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Did you mean COG2 as a gene symbol? Search ClinVar for COG2

See COG2 component of oligomeric golgi complex 2 in the Gene database

Search results

Items: 1 to 100 of 117

  • The following term was not found in ClinVar: Met434Ilefs*46.
VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:207519987-249224684
GRCh38:
Chr1:207346642-248930485
ACTA1, ACTN2, PARP1, ADSS2, AGT, ARF1, ATF3, CAPN2, CD34, CENPF, CHML, LYST, CHRM3, CR1, CR1L, CR2, CD55, EPHX1, EPRS1, ESRRG, FH, GALNT2, GNG4, GUK1, H3-3A, HLX, HNRNPU, HSD11B1, IRF6, ITPKB, KCNH1, KCNK1, KCNK2, LAMB3, LBR, LGALS8, MARK1, CD46, MTR, NEK2, NID1, NVL, PLXNA2, PPP2R5A, PROX1, PSEN2, PTPN14, RAB4A, RGS7, RYR2, SRP9, TARBP1, TBCE, TGFB2, LEFTY2, TLR5, GPR137B, TP53BP2, TRAF5, TSNAX, USH2A, WNT9A, ZNF124, SLC30A1, H3-4, GNPAT, CDC42BPA, DEGS1, KMO, TAF1A, EXO1, GGPS1, TMEM63A, TOMM20, URB2, CEP170, LPGAT1, AKT3, BPNT1, ZBTB18, LEFTY1, SPHAR, CAPN9, SDCCAG8, DUSP10, COG2, RBM34, FBXO28, ABCB10, OPN3, RAB3GAP2, TRIM58, INTS7, AHCTF1, NSL1, OR1C1, OR2M4, OR2L2, OR2T1, RPS6KC1, UTP25, TAF5L, DISC2, DISC1, FLVCR1, CNIH4, PYCR2, NENF, G0S2, RRP15, DESI2, SCCPDH, TRIM17, KCTD3, DTL, ARID4B, EGLN1, MAP10, MTARC2, SUSD4, KIF26B, GPATCH2, HEATR1, PACC1, BATF3, SLC30A10, ZNF692, IARS2, HHAT, ENAH, NUP133, RCOR3, SERTAD4, ERO1B, FMN2, SMYD2, COQ8A, ZNF695, GJC2, CAMK1G, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, MTARC1, ARV1, AIDA, JMJD4, C1orf35, TTC13, PGBD5, C1orf115, HHIPL2, VASH2, ZNF669, ZNF672, PCNX2, WDR26, TRAF3IP3, SH3BP5L, OR9H1P, OR2T7, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, MAP3K21, LINC00467, ZNF496, C1orf198, DISP1, WNT3A, ANGEL2, NEK2-DT, H2AW, ZNF670, NLRP3, COX20, SNAP47, CCSAP, LYPLAL1, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, OR2AJ1, OR2B11, WDR64, C1orf131, SPATA17, EDARADD, MRPL55, H2BU1, TATDN3, C1orf74, BROX, SLC35F3, LOC148696, B3GALNT2, GCSAML, GCSAML-AS1, CNIH3, LINC01341, EXOC8, TRIM67-AS1, RNF187, SPATA45, FAM71A, SDE2, CNST, CCDC185, PLD5, C1orf100, IBA57, OR2T6, LINC01743, SYT14, CATSPERE, PGBD2, OR2L13, OR14A16, HNRNPU-AS1, LIN9, VN1R5, ZNF678, PRSS38, LINC02774, LINC01139, RD3, OR6F1, OR14K1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, MIA3, STUM, FAM89A, CAPN8, COA6, LINC02897, OR14A2, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, LINC02817, FLJ39095, FAM177B, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, MIR194-1, MIR205, MIR215, MIR29B2, MIR29C, LINC02869, TRIM67, MAP1LC3C, BECN2, OR13G1, SERTAD4-AS1, OBSCN-AS1, IBA57-DT, MIR205HG, FLVCR1-DT, ZC3H11B, LYPLAL1-DT, MT1HL1, LYPD8, SNORA14B, SNORA36B, SNORA16B, TGFB2-AS1, LINC01347, LINC01348, MIR29B2CHG, BTNL10, LOC100130093, PP2672, RNA5S1, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, TRL-CAA4-1, TRT-TGT2-1, TRE-CTC2-1, LINC00582, LGALS8-AS1, MIR1182, MIR1537, MIR664A, LINC00184, TSNAX-DISC1, MIR320B2, MIR3123, MIR3124, MIR4260, MIR3122, MIR3620, MIR3916, PROX1-AS1, TAF1A-AS1, ITPKB-IT1, LINC02809, LINC01354, LINC01132, CHRM3-AS2, ZNF670-ZNF695, MIR4428, MIR4753, MIR4666A, MIR4677, MIR4671, MIR4427, MIR4742, MIR5008, LINC00538, HLX-AS1, CHRM3-AS1, KCNH1-IT1, LINC00210, LOC101927143, LOC101927164, LOC101927478, LINC01682, LINC01736, LINC01737, LOC101927604, LINC01744, COA6-AS1, LOC101927787, LOC101927851, LOC101928068, SMYD3-AS1, LINC01698, LINC02608, LINC01740, LINC01653, LINC01352, LINC01655, HSD11B1-AS1, MIR6742, MIR6741, LPGAT1-AS1, LINC02773, CNIH3-AS2, USH2A-AS2, LYPLAL1-AS1, SLC35F3-AS1, TGFB2-OT1, SPATA17-AS1, DISC1-IT1, LINC02767, LINC02769, LINC01717, LINC01774, LINC01696, LINC02771, USH2A-AS1, LINC01710, LINC02779, LINC02257, CNIH3-AS1, LINC02765, LINC01703, LINC02815, LOC105373159, LINC01745, LINC02768, LOC105373289, LINC01693, SNORA100, LOC107325941, LOC107325942, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC107985115, LINC02602, ACBD3-AS1, LOC107985355, LINC01641, LOC108004528, LOC110120610, LOC110120698, LOC110120807, LOC110121042, LOC110121057, LOC110121205, LOC110121251, LOC110121257, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC110121306, LOC110121307, LINC02474, KIF26B-AS1, LOC111365197, LOC111365208, LOC111429604, LOC111828504, LOC112577533, LOC112577534, LOC112577535, LOC112577536, LOC112577537, LOC112577538, LOC112577542, LOC112577543, LOC112577544, LOC112577545, LOC112577546, LOC112577547, LOC112577548, LOC112577552, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC113939983, LOC113939984, LOC113939987, LOC115804244, LOC115804245, LOC115804246, LOC115804247, LOC115804248, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC115804254, LOC115804255, LOC115804256, LOC120807606, LOC120807610, LOC120908903, LOC120908904, LOC120908905, LOC120908906, LOC120908907, LOC120908908, LOC120908909, LOC120908910, LOC120908911, LOC120908912, LOC120908913, LOC120908914, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC120947224
See casesPathogenic
(Mar 10, 2014)
no assertion criteria providedVCV000155660
2.
GRCh37:
Chr1:209819552-249225312
GRCh38:
Chr1:209646207-248931113
ACTA1, ACTN2, PARP1, ADSS2, AGT, ARF1, ATF3, CAPN2, CENPF, CHML, LYST, CHRM3, EPHX1, EPRS1, ESRRG, FH, GALNT2, GNG4, GUK1, H3-3A, HLX, HNRNPU, HSD11B1, IRF6, ITPKB, KCNH1, KCNK1, KCNK2, LAMB3, LBR, LGALS8, MARK1, MTR, NEK2, NID1, NVL, PPP2R5A, PROX1, PSEN2, PTPN14, RAB4A, RGS7, RYR2, SRP9, TARBP1, TBCE, TGFB2, LEFTY2, TLR5, GPR137B, TP53BP2, TRAF5, TSNAX, USH2A, WNT9A, ZNF124, SLC30A1, H3-4, GNPAT, CDC42BPA, DEGS1, KMO, TAF1A, EXO1, GGPS1, TMEM63A, TOMM20, URB2, CEP170, LPGAT1, AKT3, BPNT1, ZBTB18, LEFTY1, SPHAR, CAPN9, SDCCAG8, DUSP10, COG2, RBM34, FBXO28, ABCB10, OPN3, RAB3GAP2, TRIM58, INTS7, AHCTF1, NSL1, OR1C1, OR2M4, OR2L2, OR2T1, RPS6KC1, UTP25, TAF5L, DISC2, DISC1, FLVCR1, CNIH4, PYCR2, NENF, G0S2, RRP15, DESI2, SCCPDH, TRIM17, KCTD3, DTL, ARID4B, EGLN1, MAP10, MTARC2, SUSD4, KIF26B, GPATCH2, HEATR1, PACC1, BATF3, SLC30A10, ZNF692, IARS2, HHAT, ENAH, NUP133, RCOR3, SERTAD4, ERO1B, FMN2, SMYD2, COQ8A, ZNF695, GJC2, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, MTARC1, ARV1, AIDA, JMJD4, C1orf35, TTC13, PGBD5, C1orf115, HHIPL2, VASH2, ZNF669, ZNF672, PCNX2, WDR26, TRAF3IP3, SH3BP5L, OR9H1P, OR2T7, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, MAP3K21, LINC00467, ZNF496, C1orf198, DISP1, WNT3A, ANGEL2, NEK2-DT, H2AW, ZNF670, NLRP3, COX20, SNAP47, CCSAP, LYPLAL1, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, OR2AJ1, OR2B11, WDR64, C1orf131, SPATA17, EDARADD, MRPL55, H2BU1, TATDN3, C1orf74, BROX, SLC35F3, B3GALNT2, GCSAML, GCSAML-AS1, CNIH3, LINC01341, EXOC8, TRIM67-AS1, RNF187, SPATA45, FAM71A, SDE2, CNST, CCDC185, PLD5, C1orf100, IBA57, OR2T6, LINC01743, SYT14, CATSPERE, PGBD2, OR2L13, OR14A16, HNRNPU-AS1, LIN9, VN1R5, ZNF678, PRSS38, LINC02774, LINC01139, RD3, OR6F1, OR14K1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, MIA3, STUM, FAM89A, CAPN8, COA6, LINC02897, OR14A2, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, LINC02817, FLJ39095, FAM177B, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, MIR194-1, MIR215, LINC02869, TRIM67, MAP1LC3C, BECN2, OR13G1, SERTAD4-AS1, OBSCN-AS1, IBA57-DT, FLVCR1-DT, ZC3H11B, LYPLAL1-DT, MT1HL1, LYPD8, SNORA14B, SNORA36B, SNORA16B, TGFB2-AS1, LINC01347, LINC01348, BTNL10, LOC100130093, PP2672, RNA5S1, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, TRL-CAA4-1, TRT-TGT2-1, TRE-CTC2-1, LINC00582, LGALS8-AS1, MIR1182, MIR1537, MIR664A, LINC00184, TSNAX-DISC1, MIR320B2, MIR3123, MIR3124, MIR3122, MIR3620, MIR3916, PROX1-AS1, TAF1A-AS1, ITPKB-IT1, LINC02809, LINC01354, LINC01132, CHRM3-AS2, ZNF670-ZNF695, MIR4428, MIR4753, MIR4666A, MIR4677, MIR4671, MIR4427, MIR4742, MIR5008, LINC00538, HLX-AS1, CHRM3-AS1, KCNH1-IT1, LINC00210, LOC101927143, LOC101927164, LOC101927478, LINC01682, LINC01736, LINC01737, LOC101927604, LINC01744, COA6-AS1, LOC101927787, LOC101927851, LOC101928068, SMYD3-AS1, LINC02608, LINC01740, LINC01653, LINC01352, LINC01655, HSD11B1-AS1, MIR6742, MIR6741, LPGAT1-AS1, LINC02773, CNIH3-AS2, USH2A-AS2, LYPLAL1-AS1, SLC35F3-AS1, TGFB2-OT1, SPATA17-AS1, DISC1-IT1, LINC02771, USH2A-AS1, LINC01710, LINC02779, LINC02257, CNIH3-AS1, LINC02765, LINC01703, LINC02815, LOC105373159, LINC01745, LINC02768, LOC105373289, LINC01693, SNORA100, LOC107325941, LOC107325942, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC107985115, LINC02602, ACBD3-AS1, LOC107985355, LINC01641, LOC108004528, LOC110120610, LOC110120698, LOC110120807, LOC110121042, LOC110121057, LOC110121205, LOC110121251, LOC110121257, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC110121306, LOC110121307, LINC02474, KIF26B-AS1, LOC111365197, LOC111365208, LOC111429604, LOC111828504, LOC112577535, LOC112577536, LOC112577537, LOC112577538, LOC112577542, LOC112577543, LOC112577544, LOC112577545, LOC112577546, LOC112577547, LOC112577548, LOC112577552, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC113939983, LOC113939984, LOC113939987, LOC115804245, LOC115804246, LOC115804247, LOC115804248, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC115804254, LOC115804255, LOC115804256, LOC120807606, LOC120807610, LOC120908903, LOC120908904, LOC120908905, LOC120908906, LOC120908907, LOC120908908, LOC120908909, LOC120908910, LOC120908911, LOC120908912, LOC120908913, LOC120908914, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC120947224
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058116
3.
GRCh37:
Chr1:210136970-249212668
GRCh38:
Chr1:209963625-248918469
LOC110121257, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC110121306, LOC110121307, LINC02474, KIF26B-AS1, LOC111365197, LOC111365208, LOC111429604, LOC111828504, LOC112577535, LOC112577536, LOC112577537, LOC112577538, LOC112577542, LOC112577543, LOC112577544, LOC112577545, LOC112577546, LOC112577547, LOC112577548, LOC112577552, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC113939984, LOC113939987, LOC115804245, LOC115804246, LOC115804247, LOC115804248, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC115804254, LOC115804255, LOC115804256, LOC120807606, LOC120807610, LOC120908904, LOC120908905, LOC120908906, LOC120908907, LOC120908908, LOC120908909, LOC120908910, LOC120908911, LOC120908912, LOC120908913, LOC120908914, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC120947224, ACTA1, ACTN2, PARP1, ADSS2, AGT, ARF1, ATF3, CAPN2, CENPF, CHML, LYST, CHRM3, EPHX1, EPRS1, ESRRG, FH, GALNT2, GNG4, GUK1, H3-3A, HLX, HNRNPU, ITPKB, KCNH1, KCNK1, KCNK2, LBR, LGALS8, MARK1, MTR, NEK2, NID1, NVL, PPP2R5A, PROX1, PSEN2, PTPN14, RAB4A, RGS7, RYR2, SRP9, TARBP1, TBCE, TGFB2, LEFTY2, TLR5, GPR137B, TP53BP2, TRAF5, TSNAX, USH2A, WNT9A, ZNF124, SLC30A1, H3-4, GNPAT, CDC42BPA, DEGS1, KMO, TAF1A, EXO1, GGPS1, TMEM63A, TOMM20, URB2, CEP170, LPGAT1, AKT3, BPNT1, ZBTB18, LEFTY1, SPHAR, CAPN9, SDCCAG8, DUSP10, COG2, RBM34, FBXO28, ABCB10, OPN3, RAB3GAP2, TRIM58, INTS7, AHCTF1, NSL1, OR1C1, OR2M4, OR2L2, OR2T1, RPS6KC1, TAF5L, DISC2, DISC1, FLVCR1, CNIH4, PYCR2, NENF, RRP15, DESI2, SCCPDH, TRIM17, KCTD3, DTL, ARID4B, EGLN1, MAP10, MTARC2, SUSD4, KIF26B, GPATCH2, HEATR1, PACC1, BATF3, SLC30A10, ZNF692, IARS2, HHAT, ENAH, NUP133, RCOR3, SERTAD4, ERO1B, FMN2, SMYD2, COQ8A, ZNF695, GJC2, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, MTARC1, ARV1, AIDA, JMJD4, C1orf35, TTC13, PGBD5, C1orf115, HHIPL2, VASH2, ZNF669, ZNF672, PCNX2, WDR26, SH3BP5L, OR9H1P, OR2T7, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, MAP3K21, LINC00467, ZNF496, C1orf198, DISP1, WNT3A, ANGEL2, NEK2-DT, H2AW, ZNF670, NLRP3, COX20, SNAP47, CCSAP, LYPLAL1, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, OR2AJ1, OR2B11, WDR64, C1orf131, SPATA17, EDARADD, MRPL55, H2BU1, TATDN3, BROX, SLC35F3, B3GALNT2, GCSAML, GCSAML-AS1, CNIH3, LINC01341, EXOC8, TRIM67-AS1, RNF187, SPATA45, FAM71A, SDE2, CNST, CCDC185, PLD5, C1orf100, IBA57, OR2T6, LINC01743, SYT14, CATSPERE, PGBD2, OR2L13, OR14A16, HNRNPU-AS1, LIN9, VN1R5, ZNF678, PRSS38, LINC02774, LINC01139, RD3, OR6F1, OR14K1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, MIA3, STUM, FAM89A, CAPN8, COA6, LINC02897, OR14A2, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, LINC02817, FLJ39095, FAM177B, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, MIR194-1, MIR215, LINC02869, TRIM67, MAP1LC3C, BECN2, OR13G1, SERTAD4-AS1, OBSCN-AS1, IBA57-DT, FLVCR1-DT, ZC3H11B, LYPLAL1-DT, MT1HL1, LYPD8, SNORA14B, SNORA36B, SNORA16B, TGFB2-AS1, LINC01347, LINC01348, BTNL10, LOC100130093, PP2672, RNA5S1, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, TRL-CAA4-1, TRT-TGT2-1, TRE-CTC2-1, LINC00582, LGALS8-AS1, MIR1182, MIR1537, MIR664A, LINC00184, TSNAX-DISC1, MIR320B2, MIR3123, MIR3124, MIR3122, MIR3620, MIR3916, PROX1-AS1, TAF1A-AS1, ITPKB-IT1, LINC02809, LINC01354, LINC01132, CHRM3-AS2, ZNF670-ZNF695, MIR4428, MIR4753, MIR4666A, MIR4677, MIR4671, MIR4427, MIR4742, MIR5008, LINC00538, HLX-AS1, CHRM3-AS1, KCNH1-IT1, LINC00210, LOC101927143, LOC101927164, LOC101927478, LINC01682, LINC01736, LINC01737, LOC101927604, LINC01744, COA6-AS1, LOC101927787, LOC101927851, LOC101928068, SMYD3-AS1, LINC02608, LINC01740, LINC01653, LINC01352, LINC01655, MIR6742, MIR6741, LPGAT1-AS1, LINC02773, CNIH3-AS2, USH2A-AS2, LYPLAL1-AS1, SLC35F3-AS1, TGFB2-OT1, SPATA17-AS1, DISC1-IT1, LINC02771, USH2A-AS1, LINC01710, LINC02779, LINC02257, CNIH3-AS1, LINC02765, LINC01703, LINC02815, LOC105373159, LINC01745, LINC02768, LOC105373289, LINC01693, SNORA100, LOC107325941, LOC107325942, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC107985115, LINC02602, ACBD3-AS1, LOC107985355, LINC01641, LOC108004528, LOC110120610, LOC110120698, LOC110121042, LOC110121057, LOC110121205, LOC110121251
See casesPathogenic
(Jan 5, 2011)
no assertion criteria providedVCV000145652
4.
GRCh37:
Chr1:214197155-249212668
GRCh38:
Chr1:214023812-248918469
SNORA36B, TGFB2-AS1, LINC01347, LINC01348, BTNL10, LOC100130093, PP2672, RNA5S1, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, TRL-CAA4-1, TRT-TGT2-1, TRE-CTC2-1, LINC00582, LGALS8-AS1, MIR1182, MIR1537, MIR664A, LINC00184, TSNAX-DISC1, MIR320B2, MIR3123, MIR3124, MIR3620, MIR3916, TAF1A-AS1, ITPKB-IT1, LINC02809, LINC01354, LINC01132, CHRM3-AS2, ZNF670-ZNF695, MIR4428, MIR4753, MIR4666A, MIR4677, MIR4671, MIR4427, MIR4742, MIR5008, HLX-AS1, CHRM3-AS1, LINC00210, LOC101927143, LOC101927164, LOC101927478, LINC01682, LINC01736, LINC01737, LOC101927604, LINC01744, COA6-AS1, LOC101927787, LOC101927851, LOC101928068, SMYD3-AS1, LINC01653, LINC01352, LINC01655, MIR6742, MIR6741, CNIH3-AS2, USH2A-AS2, LYPLAL1-AS1, SLC35F3-AS1, TGFB2-OT1, SPATA17-AS1, DISC1-IT1, USH2A-AS1, LINC01710, LINC02779, LINC02257, CNIH3-AS1, LINC02765, LINC01703, LINC02815, LOC105373159, LINC01745, LINC02768, LOC105373289, SNORA100, LOC107325941, LOC107325942, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC107985115, ACBD3-AS1, LOC107985355, LINC01641, LOC108004528, LOC110120698, LOC110121042, LOC110121205, LOC110121251, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC110121306, LOC110121307, LINC02474, KIF26B-AS1, LOC111365197, LOC111365208, LOC111429604, LOC111828504, LOC112577543, LOC112577544, LOC112577545, LOC112577546, LOC112577547, LOC112577548, LOC112577552, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC113939987, LOC115804247, LOC115804248, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC115804254, LOC115804255, LOC115804256, LOC120807606, LOC120807610, LOC120908907, LOC120908908, LOC120908909, LOC120908910, LOC120908911, LOC120908912, LOC120908913, LOC120908914, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC120947224, ACTA1, ACTN2, PARP1, ADSS2, AGT, ARF1, CAPN2, CENPF, CHML, LYST, CHRM3, EPHX1, EPRS1, ESRRG, FH, GALNT2, GNG4, GUK1, H3-3A, HLX, HNRNPU, ITPKB, KCNK1, KCNK2, LBR, LGALS8, MARK1, MTR, NID1, NVL, PROX1, PSEN2, PTPN14, RAB4A, RGS7, RYR2, SRP9, TARBP1, TBCE, TGFB2, LEFTY2, TLR5, GPR137B, TP53BP2, TSNAX, USH2A, WNT9A, ZNF124, H3-4, GNPAT, CDC42BPA, DEGS1, KMO, TAF1A, EXO1, GGPS1, TMEM63A, TOMM20, URB2, CEP170, AKT3, BPNT1, ZBTB18, LEFTY1, SPHAR, CAPN9, SDCCAG8, DUSP10, COG2, RBM34, FBXO28, ABCB10, OPN3, RAB3GAP2, TRIM58, AHCTF1, OR1C1, OR2M4, OR2L2, OR2T1, TAF5L, DISC2, DISC1, CNIH4, PYCR2, RRP15, DESI2, SCCPDH, TRIM17, KCTD3, ARID4B, EGLN1, MAP10, MTARC2, SUSD4, KIF26B, GPATCH2, HEATR1, SLC30A10, ZNF692, IARS2, ENAH, NUP133, ERO1B, FMN2, SMYD2, COQ8A, ZNF695, GJC2, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, MTARC1, ARV1, AIDA, JMJD4, C1orf35, TTC13, PGBD5, C1orf115, HHIPL2, ZNF669, ZNF672, PCNX2, WDR26, SH3BP5L, OR9H1P, OR2T7, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, MAP3K21, ZNF496, C1orf198, DISP1, WNT3A, H2AW, ZNF670, NLRP3, COX20, SNAP47, CCSAP, LYPLAL1, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, OR2AJ1, OR2B11, WDR64, C1orf131, SPATA17, EDARADD, MRPL55, H2BU1, BROX, SLC35F3, B3GALNT2, GCSAML, GCSAML-AS1, CNIH3, LINC01341, EXOC8, TRIM67-AS1, RNF187, SDE2, CNST, CCDC185, PLD5, C1orf100, IBA57, OR2T6, LINC01743, CATSPERE, PGBD2, OR2L13, OR14A16, HNRNPU-AS1, LIN9, VN1R5, ZNF678, PRSS38, LINC02774, LINC01139, OR6F1, OR14K1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, MIA3, STUM, FAM89A, CAPN8, COA6, LINC02897, OR14A2, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, LINC02817, FLJ39095, FAM177B, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, MIR194-1, MIR215, LINC02869, TRIM67, MAP1LC3C, BECN2, OR13G1, OBSCN-AS1, IBA57-DT, ZC3H11B, LYPLAL1-DT, MT1HL1, LYPD8, SNORA14B
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057302
5.
GRCh37:
Chr1:223521035-249212668
GRCh38:
Chr1:223347693-248918469
NUP133, ERO1B, EPHX1, FH, TRE-CTC2-1, LINC00582, LGALS8-AS1, OR2T10, CAPN2, CHML, PGBD5, ZNF669, ZNF124, H3-4, GNPAT, OR2T12, SDCCAG8, GGPS1, OR2L2, OR2T1, TOMM20, URB2, ARID4B, SRP9, TARBP1, ACBD3-AS1, LOC107985355, LINC01641, LOC110121251, FMN2, COQ8A, ZNF695, LOC110121263, LOC110121264, LOC110121265, H2BU1, ADSS2, TBCE, LEFTY2, GPR137B, MIR4666A, RNA5S14, RNA5S15, RNA5S16, RNA5S17, TRL-CAA4-1, OR13G1, OBSCN-AS1, IBA57-DT, LOC110121266, LOC110121307, KIF26B-AS1, LOC111365197, LOC111365208, LOC111828504, LINC02765, LINC01703, LINC02815, LOC101928068, SMYD3-AS1, MIR6742, MIR6741, LOC105373159, AGT, ARF1, NID1, NVL, WNT9A, CEP170, OR2M4, ZNF692, ENAH, ACBD3, SMYD3, SH3BP5L, OR9H1P, CAPN8, COA6, LINC02897, NTPCR, EFCAB2, MAP1LC3C, BECN2, OR2M5, OR2M3, WDR64, C1orf131, OR2M7, OR2G6, LINC01341, EXOC8, TRIM67-AS1, EDARADD, MRPL55, OR2L3, OR2M2, OR11L1, PGBD2, OR2L13, RNF187, OR2W3, OR2T8, OR2AK2, PLD5, C1orf100, B3GALNT2, GCSAML, ZNF670, NLRP3, OR14A2, LINC01745, TMEM63A, OR2T33, LINC02768, TRIM67, LYPD8, SNORA14B, SLC35F3, RNA5S2, RNA5S3, LOC112577560, LOC112577561, GCSAML-AS1, CNIH3, CHRM3-AS1, LOC101927143, LOC101927164, SDE2, CNST, CCDC185, RNA5S12, RNA5S13, MT1HL1, ZNF672, LINC01347, LINC01348, PCNX2, BTNL10, LOC100130093, WDR26, PP2672, RNA5S1, TAF5L, DISC2, ACTA1, ACTN2, PARP1, LINC01736, LINC01737, HNRNPU, ITPKB, KCNK1, LBR, LGALS8, MTR, MIR4677, IBA57, OR2T6, AKT3, ZBTB18, LEFTY1, SPHAR, CAPN9, LOC101927478, ARV1, JMJD4, DISC1, CNIH4, PYCR2, DESI2, SCCPDH, TRIM17, LINC01682, LOC112577567, LOC112577568, LOC112577569, LOC113939987, LOC115804247, LOC115804248, LOC115804249, LOC115804250, LOC107546746, LOC107546747, LOC115804251, LOC115804252, LOC115804253, LOC115804254, LOC115804255, LOC115804256, LOC120807606, LOC120908911, LOC120908912, LOC120908913, LOC120908914, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC120947224, LINC01743, CATSPERE, OR14K1, MIR1182, MIR1537, LINC00184, CHRM3-AS2, ZNF670-ZNF695, MIR4428, MIR4742, MIR5008, LOC101927604, LINC01744, COA6-AS1, DISC1-IT1, CNIH3-AS1, LOC105373289, SNORA100, LOC107546745, C1orf35, TTC13, LIN9, VN1R5, SNAP47, CCSAP, OR2L5, WNT3A, H2AW, ZNF678, PRSS38, C1orf198, OR2T4, OR2T11, OR2C3, TRIM11, OR14C36, OR2T34, RGS7, RYR2, CDC42BPA, DEGS1, MAP3K21, ZNF496, PSEN2, RAB4A, COG2, RBM34, FBXO28, OR14A16, HNRNPU-AS1, OR2T27, OR2T35, FLJ39095, OR2T2, KMO, EXO1, OR2T5, OR14I1, LOC108004528, LOC110120698, LOC110121205, LOC101927787, LOC101927851, OR2G3, OR2G2, LOC112577543, LOC112577546, LOC112577547, LOC112577548, TSNAX-DISC1, MIR320B2, OR2B11, COX20, LOC112577552, LOC112577554, LOC112577555, KIF26B, HEATR1, LOC112577544, LOC112577545, GJC2, SIPA1L2, ZP4, MIR3620, MIR3916, ITPKB-IT1, GNG4, GUK1, H3-3A, EGLN1, MAP10, SUSD4, TP53BP2, TSNAX, MIR3123, MIR3124, LINC02809, LINC01354, LINC01132, CNIH3-AS2, SLC35F3-AS1, MIR4753, DNAH14, OR2AJ1, MIR4671, MIR4427, MIXL1, SPRTN, OBSCN, OR2T7, OR2L8, LYST, CHRM3, AHCTF1, ABCB10, GREM2, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNA5S10, RNA5S11, GALNT2, OR2T3, OR2T29, IRF2BP2, STUM, LINC02774, LINC01139, OR6F1, FAM89A, TFB2M, LOC112577565, LOC112577566, RHOU, OR1C1, LOC112577556, LOC112577557, OPN3, TRIM58, LOC112577558, LOC112577559, LOC107546778, LOC107546780, LOC107548103, LOC107985115
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057010
6.
GRCh37:
Chr1:224002849-249212668
GRCh38:
Chr1:223815147-248918469
ACTA1, ACTN2, PARP1, ADSS2, AGT, ARF1, CHML, LYST, CHRM3, EPHX1, FH, GALNT2, GNG4, GUK1, H3-3A, HNRNPU, ITPKB, KCNK1, LBR, LGALS8, MTR, NID1, NVL, PSEN2, RAB4A, RGS7, RYR2, SRP9, TARBP1, TBCE, LEFTY2, GPR137B, TP53BP2, TSNAX, WNT9A, ZNF124, H3-4, GNPAT, CDC42BPA, DEGS1, KMO, EXO1, GGPS1, TMEM63A, TOMM20, URB2, CEP170, AKT3, ZBTB18, LEFTY1, SPHAR, CAPN9, SDCCAG8, COG2, RBM34, FBXO28, ABCB10, OPN3, TRIM58, AHCTF1, OR1C1, OR2M4, OR2L2, OR2T1, TAF5L, DISC2, DISC1, CNIH4, PYCR2, DESI2, SCCPDH, TRIM17, ARID4B, EGLN1, MAP10, KIF26B, HEATR1, ZNF692, ENAH, NUP133, ERO1B, FMN2, COQ8A, ZNF695, GJC2, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, ARV1, JMJD4, C1orf35, TTC13, PGBD5, ZNF669, ZNF672, PCNX2, WDR26, SH3BP5L, OR9H1P, OR2T7, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, MAP3K21, ZNF496, C1orf198, WNT3A, H2AW, ZNF670, NLRP3, COX20, SNAP47, CCSAP, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, OR2AJ1, OR2B11, WDR64, C1orf131, EDARADD, MRPL55, H2BU1, SLC35F3, B3GALNT2, GCSAML, GCSAML-AS1, CNIH3, LINC01341, EXOC8, TRIM67-AS1, RNF187, SDE2, CNST, PLD5, C1orf100, IBA57, OR2T6, LINC01743, CATSPERE, PGBD2, OR2L13, OR14A16, HNRNPU-AS1, LIN9, VN1R5, ZNF678, PRSS38, LINC02774, LINC01139, OR6F1, OR14K1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, STUM, FAM89A, COA6, LINC02897, OR14A2, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, FLJ39095, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, TRIM67, MAP1LC3C, BECN2, OR13G1, OBSCN-AS1, IBA57-DT, MT1HL1, LYPD8, SNORA14B, LINC01347, LINC01348, BTNL10, LOC100130093, PP2672, RNA5S1, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, TRL-CAA4-1, TRE-CTC2-1, LINC00582, LGALS8-AS1, MIR1182, MIR1537, LINC00184, TSNAX-DISC1, MIR320B2, MIR3123, MIR3124, MIR3620, MIR3916, ITPKB-IT1, LINC02809, LINC01354, LINC01132, CHRM3-AS2, ZNF670-ZNF695, MIR4428, MIR4753, MIR4666A, MIR4677, MIR4671, MIR4427, MIR4742, MIR5008, CHRM3-AS1, LOC101927143, LOC101927164, LOC101927478, LINC01682, LINC01736, LINC01737, LOC101927604, LINC01744, COA6-AS1, LOC101927787, LOC101927851, LOC101928068, SMYD3-AS1, MIR6742, MIR6741, CNIH3-AS2, SLC35F3-AS1, DISC1-IT1, CNIH3-AS1, LINC02765, LINC01703, LINC02815, LOC105373159, LINC01745, LINC02768, LOC105373289, SNORA100, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC107985115, ACBD3-AS1, LOC107985355, LINC01641, LOC108004528, LOC110120698, LOC110121205, LOC110121251, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC110121307, KIF26B-AS1, LOC111365197, LOC111365208, LOC111828504, LOC112577543, LOC112577544, LOC112577545, LOC112577546, LOC112577547, LOC112577548, LOC112577552, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC113939987, LOC115804247, LOC115804248, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC115804254, LOC115804255, LOC115804256, LOC120807606, LOC120908911, LOC120908912, LOC120908913, LOC120908914, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC120947224
See casesPathogenic
(Oct 19, 2010)
no assertion criteria providedVCV000146575
7.
GRCh37:
Chr1:224016202-249185508
GRCh38:
Chr1:223828500-248891309
VN1R5, ZNF678, PRSS38, LINC02774, LINC01139, OR6F1, OR14K1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, STUM, FAM89A, COA6, LINC02897, OR14A2, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, FLJ39095, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, TRIM67, MAP1LC3C, BECN2, OR13G1, OBSCN-AS1, IBA57-DT, MT1HL1, LYPD8, SNORA14B, LINC01347, LINC01348, BTNL10, LOC100130093, PP2672, RNA5S1, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, TRL-CAA4-1, TRE-CTC2-1, LINC00582, LGALS8-AS1, MIR1182, MIR1537, LINC00184, TSNAX-DISC1, MIR320B2, MIR3123, MIR3124, MIR3620, MIR3916, ITPKB-IT1, LINC02809, LINC01354, LINC01132, CHRM3-AS2, ZNF670-ZNF695, MIR4428, MIR4753, MIR4666A, MIR4677, MIR4671, MIR4427, MIR4742, MIR5008, CHRM3-AS1, LOC101927143, LOC101927164, LOC101927478, LINC01682, LINC01736, LINC01737, LOC101927604, LINC01744, COA6-AS1, LOC101927787, LOC101927851, LOC101928068, SMYD3-AS1, MIR6742, MIR6741, CNIH3-AS2, SLC35F3-AS1, DISC1-IT1, CNIH3-AS1, LINC02765, LINC01703, LINC02815, LOC105373159, LINC01745, LINC02768, LOC105373289, SNORA100, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC107985115, ACBD3-AS1, LOC107985355, LINC01641, LOC108004528, LOC110120698, LOC110121205, LOC110121251, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC110121307, KIF26B-AS1, LOC111365197, LOC111365208, LOC111828504, LOC112577543, LOC112577544, LOC112577545, LOC112577546, LOC112577547, LOC112577548, LOC112577552, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC113939987, LOC115804247, LOC115804248, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC115804254, LOC115804255, LOC115804256, LOC120807606, LOC120908911, LOC120908912, LOC120908913, LOC120908914, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC120947224, ACTA1, ACTN2, PARP1, ADSS2, AGT, ARF1, CHML, LYST, CHRM3, EPHX1, FH, GALNT2, GNG4, GUK1, H3-3A, HNRNPU, ITPKB, KCNK1, LBR, LGALS8, MTR, NID1, NVL, PSEN2, RAB4A, RGS7, RYR2, SRP9, TARBP1, TBCE, LEFTY2, GPR137B, TP53BP2, TSNAX, WNT9A, ZNF124, H3-4, GNPAT, CDC42BPA, DEGS1, KMO, EXO1, GGPS1, TMEM63A, TOMM20, URB2, CEP170, SDCCAG8, AKT3, ZBTB18, LEFTY1, SPHAR, CAPN9, COG2, RBM34, FBXO28, ABCB10, OPN3, TRIM58, AHCTF1, OR1C1, OR2M4, OR2L2, OR2T1, TAF5L, DISC2, DISC1, CNIH4, PYCR2, DESI2, SCCPDH, TRIM17, ARID4B, EGLN1, MAP10, KIF26B, HEATR1, ZNF692, ENAH, NUP133, ERO1B, FMN2, COQ8A, ZNF695, GJC2, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, ARV1, JMJD4, C1orf35, TTC13, PGBD5, ZNF669, ZNF672, PCNX2, WDR26, SH3BP5L, OR9H1P, OR2T7, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, MAP3K21, ZNF496, C1orf198, WNT3A, H2AW, ZNF670, NLRP3, COX20, SNAP47, CCSAP, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, OR2AJ1, OR2B11, WDR64, C1orf131, EDARADD, MRPL55, H2BU1, SLC35F3, B3GALNT2, GCSAML, GCSAML-AS1, CNIH3, LINC01341, EXOC8, TRIM67-AS1, RNF187, SDE2, CNST, PLD5, C1orf100, IBA57, OR2T6, LINC01743, CATSPERE, PGBD2, OR2L13, OR14A16, HNRNPU-AS1, LIN9
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058133
8.
GRCh37:
Chr1:224075482-249185508
GRCh38:
Chr1:223887780-248891309
ACTA1, ACTN2, PARP1, ADSS2, AGT, ARF1, CHML, LYST, CHRM3, EPHX1, FH, GALNT2, GNG4, GUK1, H3-3A, HNRNPU, ITPKB, KCNK1, LBR, LGALS8, MTR, NID1, NVL, PSEN2, RAB4A, RGS7, RYR2, SRP9, TARBP1, TBCE, LEFTY2, GPR137B, TSNAX, WNT9A, ZNF124, H3-4, GNPAT, CDC42BPA, DEGS1, KMO, EXO1, GGPS1, TMEM63A, TOMM20, URB2, CEP170, SDCCAG8, AKT3, ZBTB18, LEFTY1, SPHAR, CAPN9, COG2, RBM34, FBXO28, ABCB10, OPN3, TRIM58, AHCTF1, OR1C1, OR2M4, OR2L2, OR2T1, TAF5L, DISC2, DISC1, CNIH4, PYCR2, DESI2, SCCPDH, TRIM17, ARID4B, EGLN1, MAP10, KIF26B, HEATR1, ZNF692, ENAH, NUP133, ERO1B, FMN2, COQ8A, ZNF695, GJC2, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, ARV1, JMJD4, C1orf35, TTC13, PGBD5, ZNF669, ZNF672, PCNX2, WDR26, SH3BP5L, OR9H1P, OR2T7, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, MAP3K21, ZNF496, C1orf198, WNT3A, H2AW, ZNF670, NLRP3, COX20, SNAP47, CCSAP, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, OR2AJ1, OR2B11, WDR64, C1orf131, EDARADD, MRPL55, H2BU1, SLC35F3, B3GALNT2, GCSAML, GCSAML-AS1, CNIH3, LINC01341, EXOC8, TRIM67-AS1, RNF187, SDE2, CNST, PLD5, C1orf100, IBA57, OR2T6, LINC01743, CATSPERE, PGBD2, OR2L13, OR14A16, HNRNPU-AS1, LIN9, VN1R5, ZNF678, PRSS38, LINC02774, LINC01139, OR6F1, OR14K1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, STUM, FAM89A, COA6, LINC02897, OR14A2, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, FLJ39095, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, TRIM67, MAP1LC3C, BECN2, OR13G1, OBSCN-AS1, IBA57-DT, MT1HL1, LYPD8, SNORA14B, LINC01347, LINC01348, BTNL10, LOC100130093, PP2672, RNA5S1, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, TRL-CAA4-1, TRE-CTC2-1, LINC00582, LGALS8-AS1, MIR1182, MIR1537, LINC00184, TSNAX-DISC1, MIR320B2, MIR3123, MIR3124, MIR3620, MIR3916, ITPKB-IT1, LINC02809, LINC01354, LINC01132, CHRM3-AS2, ZNF670-ZNF695, MIR4428, MIR4753, MIR4666A, MIR4677, MIR4671, MIR4427, MIR4742, MIR5008, CHRM3-AS1, LOC101927143, LOC101927164, LOC101927478, LINC01682, LINC01736, LINC01737, LOC101927604, LINC01744, COA6-AS1, LOC101927787, LOC101927851, LOC101928068, SMYD3-AS1, MIR6742, MIR6741, CNIH3-AS2, SLC35F3-AS1, DISC1-IT1, CNIH3-AS1, LINC02765, LINC01703, LINC02815, LOC105373159, LINC01745, LINC02768, LOC105373289, SNORA100, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC107985115, ACBD3-AS1, LOC107985355, LINC01641, LOC108004528, LOC110120698, LOC110121205, LOC110121251, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC110121307, KIF26B-AS1, LOC111365197, LOC111365208, LOC111828504, LOC112577543, LOC112577544, LOC112577545, LOC112577546, LOC112577547, LOC112577548, LOC112577552, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC113939987, LOC115804247, LOC115804248, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC115804254, LOC115804255, LOC115804256, LOC120807606, LOC120908911, LOC120908912, LOC120908913, LOC120908914, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC120947224
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058135
9.
GRCh37:
Chr1:224210564-249212668
GRCh38:
Chr1:224022862-248918469
ACTA1, ACTN2, PARP1, ADSS2, AGT, ARF1, CHML, LYST, CHRM3, EPHX1, FH, GALNT2, GNG4, GUK1, H3-3A, HNRNPU, ITPKB, KCNK1, LBR, LGALS8, MTR, NID1, NVL, PSEN2, RAB4A, RGS7, RYR2, SRP9, TARBP1, TBCE, LEFTY2, GPR137B, TSNAX, WNT9A, ZNF124, H3-4, GNPAT, CDC42BPA, DEGS1, KMO, EXO1, GGPS1, TMEM63A, TOMM20, URB2, CEP170, AKT3, ZBTB18, LEFTY1, SPHAR, CAPN9, SDCCAG8, COG2, RBM34, FBXO28, ABCB10, OPN3, TRIM58, AHCTF1, OR1C1, OR2M4, OR2L2, OR2T1, TAF5L, DISC2, DISC1, CNIH4, PYCR2, DESI2, SCCPDH, TRIM17, ARID4B, EGLN1, MAP10, KIF26B, HEATR1, ZNF692, ENAH, NUP133, ERO1B, FMN2, COQ8A, ZNF695, GJC2, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, ARV1, JMJD4, C1orf35, TTC13, PGBD5, ZNF669, ZNF672, PCNX2, WDR26, SH3BP5L, OR9H1P, OR2T7, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, MAP3K21, ZNF496, C1orf198, WNT3A, H2AW, ZNF670, NLRP3, COX20, SNAP47, CCSAP, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, OR2AJ1, OR2B11, WDR64, C1orf131, EDARADD, MRPL55, H2BU1, SLC35F3, B3GALNT2, GCSAML, GCSAML-AS1, CNIH3, LINC01341, EXOC8, TRIM67-AS1, RNF187, SDE2, CNST, PLD5, C1orf100, IBA57, OR2T6, LINC01743, CATSPERE, PGBD2, OR2L13, OR14A16, HNRNPU-AS1, LIN9, VN1R5, ZNF678, PRSS38, LINC02774, LINC01139, OR6F1, OR14K1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, STUM, FAM89A, COA6, LINC02897, OR14A2, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, FLJ39095, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, TRIM67, MAP1LC3C, BECN2, OR13G1, OBSCN-AS1, IBA57-DT, MT1HL1, LYPD8, SNORA14B, LINC01347, LINC01348, BTNL10, LOC100130093, PP2672, RNA5S1, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, TRL-CAA4-1, TRE-CTC2-1, LINC00582, LGALS8-AS1, MIR1182, MIR1537, LINC00184, TSNAX-DISC1, MIR320B2, MIR3123, MIR3124, MIR3620, MIR3916, ITPKB-IT1, LINC02809, LINC01354, LINC01132, CHRM3-AS2, ZNF670-ZNF695, MIR4428, MIR4753, MIR4666A, MIR4677, MIR4671, MIR4427, MIR4742, MIR5008, CHRM3-AS1, LOC101927143, LOC101927164, LOC101927478, LINC01682, LINC01736, LINC01737, LOC101927604, LINC01744, COA6-AS1, LOC101927787, LOC101927851, LOC101928068, SMYD3-AS1, MIR6742, MIR6741, CNIH3-AS2, SLC35F3-AS1, DISC1-IT1, CNIH3-AS1, LINC02765, LINC01703, LINC02815, LOC105373159, LINC01745, LINC02768, LOC105373289, SNORA100, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC107985115, ACBD3-AS1, LOC107985355, LINC01641, LOC108004528, LOC110120698, LOC110121205, LOC110121251, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC110121307, KIF26B-AS1, LOC111365197, LOC111365208, LOC111828504, LOC112577543, LOC112577544, LOC112577545, LOC112577546, LOC112577547, LOC112577548, LOC112577552, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC113939987, LOC115804247, LOC115804248, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC115804254, LOC115804255, LOC115804256, LOC120807606, LOC120908911, LOC120908912, LOC120908913, LOC120908914, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC120947224
See casesPathogenic
(Sep 16, 2011)
no assertion criteria providedVCV000148701
10.
GRCh37:
Chr1:224284190-249212668
GRCh38:
Chr1:224096488-248918469
RNA5S8, RNA5S9, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, TRL-CAA4-1, TRE-CTC2-1, LINC00582, LGALS8-AS1, MIR1182, MIR1537, LINC00184, TSNAX-DISC1, MIR320B2, MIR3123, MIR3124, MIR3620, MIR3916, ITPKB-IT1, LINC02809, LINC01354, LINC01132, CHRM3-AS2, ZNF670-ZNF695, MIR4428, MIR4753, MIR4666A, MIR4677, MIR4671, MIR4427, MIR4742, MIR5008, CHRM3-AS1, LOC101927143, LOC101927164, LOC101927478, LINC01682, LINC01736, LINC01737, LOC101927604, LINC01744, COA6-AS1, LOC101927787, LOC101927851, LOC101928068, SMYD3-AS1, MIR6742, MIR6741, CNIH3-AS2, SLC35F3-AS1, DISC1-IT1, CNIH3-AS1, LINC02765, LINC01703, LINC02815, LOC105373159, LINC01745, LINC02768, LOC105373289, SNORA100, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC107985115, ACBD3-AS1, LOC107985355, LINC01641, LOC108004528, LOC110120698, LOC110121205, LOC110121251, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC110121307, KIF26B-AS1, LOC111365197, LOC111365208, LOC111828504, LOC112577543, LOC112577544, LOC112577545, LOC112577546, LOC112577547, LOC112577548, LOC112577552, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC113939987, LOC115804247, LOC115804248, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC115804254, LOC115804255, LOC115804256, LOC120807606, LOC120908911, LOC120908912, LOC120908913, LOC120908914, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC120947224, ACTA1, ACTN2, PARP1, ADSS2, AGT, ARF1, CHML, LYST, CHRM3, EPHX1, FH, GALNT2, GNG4, GUK1, H3-3A, HNRNPU, ITPKB, KCNK1, LBR, LGALS8, MTR, NID1, NVL, PSEN2, RAB4A, RGS7, RYR2, SRP9, TARBP1, TBCE, LEFTY2, GPR137B, TSNAX, WNT9A, ZNF124, H3-4, GNPAT, CDC42BPA, DEGS1, KMO, EXO1, GGPS1, TMEM63A, TOMM20, URB2, CEP170, SDCCAG8, AKT3, ZBTB18, LEFTY1, SPHAR, CAPN9, COG2, RBM34, FBXO28, ABCB10, OPN3, TRIM58, AHCTF1, OR1C1, OR2M4, OR2L2, OR2T1, TAF5L, DISC2, DISC1, CNIH4, PYCR2, DESI2, SCCPDH, TRIM17, ARID4B, EGLN1, MAP10, KIF26B, HEATR1, ZNF692, ENAH, NUP133, ERO1B, FMN2, COQ8A, ZNF695, GJC2, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, ARV1, JMJD4, C1orf35, TTC13, PGBD5, ZNF669, ZNF672, PCNX2, WDR26, SH3BP5L, OR9H1P, OR2T7, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, MAP3K21, ZNF496, C1orf198, WNT3A, H2AW, ZNF670, NLRP3, COX20, SNAP47, CCSAP, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, DNAH14, OR2AJ1, OR2B11, WDR64, C1orf131, EDARADD, MRPL55, H2BU1, SLC35F3, B3GALNT2, GCSAML, GCSAML-AS1, CNIH3, LINC01341, EXOC8, TRIM67-AS1, RNF187, SDE2, CNST, PLD5, C1orf100, IBA57, OR2T6, LINC01743, CATSPERE, PGBD2, OR2L13, OR14A16, HNRNPU-AS1, LIN9, VN1R5, ZNF678, PRSS38, LINC02774, LINC01139, OR6F1, OR14K1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, STUM, FAM89A, COA6, LINC02897, OR14A2, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, FLJ39095, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, TRIM67, MAP1LC3C, BECN2, OR13G1, OBSCN-AS1, IBA57-DT, MT1HL1, LYPD8, SNORA14B, LINC01347, LINC01348, BTNL10, LOC100130093, PP2672, RNA5S1, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058137
11.
GRCh37:
Chr1:225626182-249060210
GRCh38:
Chr1:225438480-248787200
ACTA1, ACTN2, PARP1, ADSS2, AGT, ARF1, CHML, LYST, CHRM3, EPHX1, FH, GALNT2, GNG4, GUK1, H3-3A, HNRNPU, ITPKB, KCNK1, LGALS8, MTR, NID1, PSEN2, RAB4A, RGS7, RYR2, SRP9, TARBP1, TBCE, LEFTY2, GPR137B, TSNAX, WNT9A, ZNF124, H3-4, GNPAT, CDC42BPA, KMO, EXO1, GGPS1, TMEM63A, TOMM20, URB2, CEP170, AKT3, ZBTB18, LEFTY1, SPHAR, CAPN9, SDCCAG8, COG2, RBM34, ABCB10, OPN3, TRIM58, AHCTF1, OR1C1, OR2M4, OR2L2, OR2T1, TAF5L, DISC2, DISC1, PYCR2, DESI2, SCCPDH, TRIM17, ARID4B, EGLN1, MAP10, KIF26B, HEATR1, ENAH, NUP133, ERO1B, FMN2, COQ8A, ZNF695, GJC2, SIPA1L2, ZP4, RHOU, TFB2M, GREM2, ACBD3, SMYD3, ARV1, JMJD4, C1orf35, TTC13, PGBD5, ZNF669, PCNX2, OR9H1P, OR2T7, OR2L5, OR2G3, OR2G2, OR2C3, TRIM11, MIXL1, SPRTN, OBSCN, NTPCR, EFCAB2, MAP3K21, ZNF496, C1orf198, WNT3A, H2AW, ZNF670, NLRP3, COX20, SNAP47, CCSAP, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, OR2AJ1, OR2B11, WDR64, C1orf131, EDARADD, MRPL55, H2BU1, SLC35F3, B3GALNT2, GCSAML, GCSAML-AS1, LINC01341, EXOC8, TRIM67-AS1, RNF187, SDE2, CNST, PLD5, C1orf100, IBA57, OR2T6, LINC01743, CATSPERE, OR2L13, OR14A16, HNRNPU-AS1, LIN9, VN1R5, ZNF678, PRSS38, LINC02774, LINC01139, OR6F1, OR14K1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, STUM, FAM89A, COA6, LINC02897, OR14A2, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, FLJ39095, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, TRIM67, MAP1LC3C, BECN2, OR13G1, OBSCN-AS1, IBA57-DT, MT1HL1, LYPD8, SNORA14B, LINC01347, LINC01348, BTNL10, LOC100130093, PP2672, RNA5S1, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, LINC00582, LGALS8-AS1, MIR1182, MIR1537, LINC00184, TSNAX-DISC1, MIR3123, MIR3620, MIR3916, ITPKB-IT1, LINC02809, LINC01354, LINC01132, CHRM3-AS2, ZNF670-ZNF695, MIR4428, MIR4753, MIR4666A, MIR4677, MIR4671, MIR4427, MIR5008, CHRM3-AS1, LOC101927478, LINC01682, LINC01736, LINC01737, LOC101927604, LINC01744, COA6-AS1, LOC101927787, LOC101927851, LOC101928068, SMYD3-AS1, MIR6742, MIR6741, SLC35F3-AS1, DISC1-IT1, LINC02765, LINC01703, LINC02815, LOC105373159, LINC01745, LINC02768, LOC105373289, SNORA100, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC107985115, ACBD3-AS1, LOC107985355, LINC01641, LOC108004528, LOC110120698, LOC110121205, LOC110121251, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC110121307, KIF26B-AS1, LOC111365197, LOC111365208, LOC111828504, LOC112577545, LOC112577546, LOC112577547, LOC112577548, LOC112577552, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC113939987, LOC115804247, LOC115804248, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC115804254, LOC120807606, LOC120908911, LOC120908912, LOC120908913, LOC120908914, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC120947224
See casesPathogenic
(Aug 18, 2010)
no assertion criteria providedVCV000154381
12.
GRCh37:
Chr1:226372825-233008234
GRCh38:
Chr1:226185124-232872488
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000146517
13.
GRCh37:
Chr1:229158656-249212668
GRCh38:
Chr1:229022909-248918469
ACTA1, ACTN2, ADSS2, AGT, CHML, LYST, CHRM3, FH, GALNT2, GNG4, HNRNPU, KCNK1, LGALS8, MTR, NID1, RAB4A, RGS7, RYR2, TARBP1, TBCE, GPR137B, TSNAX, ZNF124, GNPAT, KMO, EXO1, GGPS1, TOMM20, URB2, CEP170, AKT3, ZBTB18, SPHAR, CAPN9, SDCCAG8, COG2, RBM34, ABCB10, OPN3, TRIM58, AHCTF1, OR1C1, OR2M4, OR2L2, OR2T1, TAF5L, DISC2, DISC1, DESI2, SCCPDH, ARID4B, EGLN1, MAP10, KIF26B, HEATR1, ZNF692, NUP133, ERO1B, FMN2, ZNF695, SIPA1L2, ZP4, TFB2M, GREM2, SMYD3, ARV1, TTC13, PGBD5, ZNF669, ZNF672, PCNX2, SH3BP5L, OR9H1P, OR2T7, OR2L5, OR2G3, OR2G2, OR2C3, SPRTN, NTPCR, EFCAB2, MAP3K21, ZNF496, C1orf198, ZNF670, NLRP3, COX20, CCSAP, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, OR2AJ1, OR2B11, WDR64, C1orf131, EDARADD, SLC35F3, B3GALNT2, GCSAML, GCSAML-AS1, LINC01341, EXOC8, TRIM67-AS1, CNST, PLD5, C1orf100, OR2T6, LINC01743, CATSPERE, PGBD2, OR2L13, OR14A16, HNRNPU-AS1, VN1R5, LINC02774, LINC01139, OR6F1, OR14K1, OR2W3, OR2T8, OR2T3, OR2T29, IRF2BP2, FAM89A, COA6, LINC02897, OR14A2, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, FLJ39095, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, TRIM67, MAP1LC3C, BECN2, OR13G1, MT1HL1, LYPD8, SNORA14B, LINC01347, LINC01348, PP2672, TRL-CAA4-1, TRE-CTC2-1, LINC00582, LGALS8-AS1, MIR1182, MIR1537, LINC00184, TSNAX-DISC1, MIR3123, MIR3124, MIR3916, LINC01354, LINC01132, CHRM3-AS2, ZNF670-ZNF695, MIR4428, MIR4753, MIR4677, MIR4671, MIR4427, CHRM3-AS1, LOC101927478, LINC01682, LINC01736, LINC01737, LOC101927604, LINC01744, COA6-AS1, LOC101927787, LOC101927851, LOC101928068, SMYD3-AS1, SLC35F3-AS1, DISC1-IT1, LINC02815, LOC105373159, LINC01745, LINC02768, SNORA100, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC107985115, LOC108004528, LOC110120698, LOC110121205, LOC110121251, LOC110121263, LOC110121264, LOC110121265, LOC110121266, KIF26B-AS1, LOC111365197, LOC111365208, LOC111828504, LOC112577552, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC113939987, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC115804254, LOC115804255, LOC115804256, LOC120908912, LOC120908913, LOC120908914, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC120947224
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000147487
14.
GRCh37:
Chr1:230019552-231653299
GRCh38:
Chr1:229883805-231517553
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000057819
15.
GRCh37:
Chr1:230242018-243840585
GRCh38:
Chr1:230106271-243677283
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057387
16.
GRCh37:
Chr1:230625403-231378949
GRCh38:
Chr1:230489657-231243203
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000057820
17.
GRCh37:
Chr1:230655501-231367812
GRCh38:
Chr1:230519755-231232066
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000161003
18.
GRCh37:
Chr1:230655501-231367812
GRCh38:
Chr1:230519755-231232066
See casesUncertain significance
(May 27, 2010)
no assertion criteria providedVCV000032991
19.
GRCh37:
Chr1:230778244
GRCh38:
Chr1:230642498
COG2not providedBenign
(May 27, 2021)
no assertion criteria providedVCV001232503
20.
GRCh37:
Chr1:230778388
GRCh38:
Chr1:230642642
COG2Congenital disorder of glycosylation, type IIqLikely benign
(Sep 25, 2020)
criteria provided, single submitterVCV001138482
21.
GRCh37:
Chr1:230795200
GRCh38:
Chr1:230659454
COG2not providedLikely benign
(Apr 26, 2018)
criteria provided, single submitterVCV000724333
22.
GRCh37:
Chr1:230795253
GRCh38:
Chr1:230659507
COG2R39QCongenital disorder of glycosylation, type IIqUncertain significance
(Dec 18, 2020)
criteria provided, single submitterVCV001030210
23.
GRCh37:
Chr1:230795269
GRCh38:
Chr1:230659523
COG2not providedLikely benign
(Jun 17, 2018)
criteria provided, single submitterVCV000749838
24.
GRCh37:
Chr1:230795320
GRCh38:
Chr1:230659574
COG2Congenital disorder of glycosylation, type IIqBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000709599
25.
GRCh37:
Chr1:230795355
GRCh38:
Chr1:230659609
COG2N73SCongenital disorder of glycosylation, type IIqLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000718942
26.
GRCh37:
Chr1:230796326
GRCh38:
Chr1:230660580
COG2not providedBenign
(Sep 4, 2018)
no assertion criteria providedVCV001227643
27.
GRCh37:
Chr1:230796533
GRCh38:
Chr1:230660787
COG2Congenital disorder of glycosylation, type IIq, not providedBenign
(Nov 25, 2020)
criteria provided, multiple submitters, no conflictsVCV000672165
28.
GRCh37:
Chr1:230798877
GRCh38:
Chr1:230663131
COG2not providedLikely benign
(Oct 13, 2017)
criteria provided, single submitterVCV000719639
29.
GRCh37:
Chr1:230798878
GRCh38:
Chr1:230663132
COG2not providedLikely benign
(Jun 30, 2017)
criteria provided, single submitterVCV000770502
30.
GRCh37:
Chr1:230798971
GRCh38:
Chr1:230663225
COG2Congenital disorder of glycosylation, type IIqLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000731997
31.
GRCh37:
Chr1:230798975
GRCh38:
Chr1:230663229
COG2Congenital disorder of glycosylation, type IIqLikely benign
(Nov 13, 2019)
criteria provided, single submitterVCV000719608
32.
GRCh37:
Chr1:230800250
GRCh38:
Chr1:230664504
COG2I134Mnot providedLikely benign
(Oct 25, 2018)
criteria provided, single submitterVCV000714955
33.
GRCh37:
Chr1:230800253
GRCh38:
Chr1:230664507
COG2not provided, Congenital disorder of glycosylation, type IIqLikely benign
(Nov 6, 2018)
criteria provided, single submitterVCV000800187
34.
GRCh37:
Chr1:230800278-230800279
GRCh38:
Chr1:230664532-230664533
COG2I146fsCongenital disorder of glycosylation, type IIqPathogenic
(Jul 11, 2017)
criteria provided, single submitterVCV000568944
35.
GRCh37:
Chr1:230800283
GRCh38:
Chr1:230664537
COG2Congenital disorder of glycosylation, type IIqLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000747187
36.
GRCh37:
Chr1:230800341
GRCh38:
Chr1:230664595
COG2Congenital disorder of glycosylation, type IIqLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000784689
37.
GRCh37:
Chr1:230804503
GRCh38:
Chr1:230668757
COG2Congenital disorder of glycosylation, type IIqBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000779702
38.
GRCh37:
Chr1:230805134
GRCh38:
Chr1:230669388
COG2Congenital disorder of glycosylation, type IIqLikely benign
(Jul 1, 2020)
criteria provided, single submitterVCV000714671
39.
GRCh37:
Chr1:230805161
GRCh38:
Chr1:230669415
COG2not providedLikely benign
(May 31, 2018)
criteria provided, single submitterVCV000745705
40.
GRCh37:
Chr1:230805207-230805208
GRCh38:
Chr1:230669461-230669462
COG2Y234*Congenital disorder of glycosylation, type IIqPathogenic
(Mar 26, 2017)
no assertion criteria providedVCV000417770
41.
GRCh37:
Chr1:230805215
GRCh38:
Chr1:230669469
COG2Congenital disorder of glycosylation, type IIqBenign
(Nov 17, 2020)
criteria provided, single submitterVCV000774284
42.
GRCh37:
Chr1:230805279
GRCh38:
Chr1:230669533
COG2E258KCongenital disorder of glycosylation, type IIqUncertain significance
(Oct 11, 2018)
criteria provided, single submitterVCV000651045
43.
GRCh37:
Chr1:230805290
GRCh38:
Chr1:230669544
COG2not providedLikely benign
(Sep 25, 2018)
criteria provided, single submitterVCV000751504
44.
GRCh37:
Chr1:230807333
GRCh38:
Chr1:230671587
COG2not providedLikely benign
(Mar 30, 2018)
criteria provided, single submitterVCV000728271
45.
GRCh37:
Chr1:230810545
GRCh38:
Chr1:230674799
COG2not providedBenign
(May 19, 2021)
no assertion criteria providedVCV001231567
46.
GRCh37:
Chr1:230810756
GRCh38:
Chr1:230675010
COG2N304KCongenital disorder of glycosylation, type IIqBenign
(Dec 4, 2020)
criteria provided, single submitterVCV000478371
47.
GRCh37:
Chr1:230810780
GRCh38:
Chr1:230675034
COG2Congenital disorder of glycosylation, type IIqUncertain significance
(Jul 1, 2019)
criteria provided, single submitterVCV000941212
48.
GRCh37:
Chr1:230810834
GRCh38:
Chr1:230675088
COG2not providedLikely benign
(Apr 13, 2018)
criteria provided, single submitterVCV000791011
49.
GRCh37:
Chr1:230810858
GRCh38:
Chr1:230675112
COG2Congenital disorder of glycosylation, type IIqBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000478370
50.
GRCh37:
Chr1:230810859
GRCh38:
Chr1:230675113
COG2A339PCongenital disorder of glycosylation, type IIqUncertain significance
(Feb 11, 2020)
criteria provided, single submitterVCV001011775
51.
GRCh37:
Chr1:230810880
GRCh38:
Chr1:230675134
COG2Congenital disorder of glycosylation, type IIqLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000726967
52.
GRCh37:
Chr1:230814668
GRCh38:
Chr1:230678922
COG2I346VCongenital disorder of glycosylation, type IIqBenign
(Dec 3, 2020)
criteria provided, single submitterVCV001165357
53.
GRCh37:
Chr1:230814698
GRCh38:
Chr1:230678952
COG2R356WCongenital disorder of glycosylation, type IIq, not providedUncertain significance
(Apr 1, 2019)
criteria provided, multiple submitters, no conflictsVCV000806379
54.
GRCh37:
Chr1:230814721
GRCh38:
Chr1:230678975
COG2not providedLikely benign
(Apr 1, 2021)
criteria provided, single submitterVCV001176856
55.
GRCh37:
Chr1:230814775
GRCh38:
Chr1:230679029
COG2not providedLikely benign
(Dec 27, 2017)
criteria provided, single submitterVCV000731773
56.
GRCh37:
Chr1:230819156
GRCh38:
Chr1:230683410
COG2not providedBenign
(Jul 22, 2020)
no assertion criteria providedVCV001237873
57.
GRCh37:
Chr1:230819335
GRCh38:
Chr1:230683589
COG2Congenital disorder of glycosylation, type IIqLikely benign
(Jan 24, 2020)
criteria provided, single submitterVCV001126891
58.
GRCh37:
Chr1:230819342
GRCh38:
Chr1:230683596
COG2not providedLikely benign
(Dec 19, 2018)
criteria provided, single submitterVCV000720097
59.
GRCh37:
Chr1:230819479-230819480
GRCh38:
Chr1:230683733-230683734
COG2not providedBenign
(Jul 27, 2020)
criteria provided, single submitterVCV001178879
60.
GRCh37:
Chr1:230820763-230820764
GRCh38:
Chr1:230685017-230685018
COG2not providedBenign
(Apr 9, 2019)
no assertion criteria providedVCV001234035
61.
GRCh37:
Chr1:230820841
GRCh38:
Chr1:230685095
COG2not providedBenign
(Jul 18, 2018)
criteria provided, single submitterVCV000740649
62.
GRCh37:
Chr1:230820886
GRCh38:
Chr1:230685140
COG2R428SCongenital disorder of glycosylation, type IIqUncertain significance
(Aug 11, 2020)
criteria provided, single submitterVCV001017465
63.
GRCh37:
Chr1:230820901
GRCh38:
Chr1:230685155
COG2not providedLikely benign
(May 23, 2018)
criteria provided, single submitterVCV000748723
64.
GRCh37:
Chr1:230820960
GRCh38:
Chr1:230685214
COG2R453QCongenital disorder of glycosylation, type IIqUncertain significance
(Aug 7, 2020)
criteria provided, single submitterVCV001040914
65.
GRCh37:
Chr1:230822607
GRCh38:
Chr1:230686861
COG2not providedBenign
(Jul 27, 2018)
no assertion criteria providedVCV001221266
66.
GRCh37:
Chr1:230822671
GRCh38:
Chr1:230686925
COG2Congenital disorder of glycosylation, type IIqLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000710697
67.
GRCh37:
Chr1:230822687
GRCh38:
Chr1:230686941
COG2L463FCongenital disorder of glycosylation, type IIqUncertain significance
(Jun 7, 2019)
criteria provided, single submitterVCV000656151
68.
GRCh37:
Chr1:230822707
GRCh38:
Chr1:230686961
COG2Congenital disorder of glycosylation, type IIqLikely benign
(Sep 23, 2020)
criteria provided, single submitterVCV001116402
69.
GRCh37:
Chr1:230822828
GRCh38:
Chr1:230687082
COG2R510CCongenital disorder of glycosylation, type IIqLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000714468
70.
GRCh37:
Chr1:230822829
GRCh38:
Chr1:230687083
COG2R510LCongenital disorder of glycosylation, type IIqUncertain significance
(Dec 18, 2020)
criteria provided, single submitterVCV001030211
71.
GRCh37:
Chr1:230822832
GRCh38:
Chr1:230687086
COG2T511SCongenital disorder of glycosylation, type IIqLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000779620
72.
GRCh37:
Chr1:230823839
GRCh38:
Chr1:230688093
COG2I534NCongenital disorder of glycosylation, type IIqUncertain significance
(Oct 28, 2020)
criteria provided, single submitterVCV001009715
73.
GRCh37:
Chr1:230823860
GRCh38:
Chr1:230688114
COG2I541TCongenital disorder of glycosylation, type IIqUncertain significance
(Sep 3, 2019)
criteria provided, single submitterVCV000961335
74.
GRCh37:
Chr1:230824223
GRCh38:
Chr1:230688477
COG2K569R, K570RCongenital disorder of glycosylation, type IIqUncertain significance
(Oct 4, 2019)
criteria provided, single submitterVCV000934430
75.
GRCh37:
Chr1:230824269
GRCh38:
Chr1:230688523
COG2Congenital disorder of glycosylation, type IIqLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000712899
76.
GRCh37:
Chr1:230824279
GRCh38:
Chr1:230688533
COG2V588L, V589LCongenital disorder of glycosylation, type IIqUncertain significance
(Aug 6, 2020)
criteria provided, single submitterVCV001021470
77.
GRCh37:
Chr1:230824279
GRCh38:
Chr1:230688533
COG2V588I, V589Inot provided, Congenital disorder of glycosylation, type IIqBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000775694
78.
GRCh37:
Chr1:230824627
GRCh38:
Chr1:230688881
COG2not providedBenign
(Jul 27, 2018)
no assertion criteria providedVCV001225091
79.
GRCh37:
Chr1:230825645
GRCh38:
Chr1:230689899
COG2not providedBenign
(May 11, 2021)
no assertion criteria providedVCV001233090
80.
GRCh37:
Chr1:230825790
GRCh38:
Chr1:230690044
COG2D609N, D608Nnot provided, Congenital disorder of glycosylation, type IIqUncertain significance
(Feb 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000806380
81.
GRCh37:
Chr1:230825820
GRCh38:
Chr1:230690074
COG2Q618*, Q619*Congenital disorder of glycosylation, type IIqLikely pathogenic
(Apr 24, 2020)
criteria provided, single submitterVCV000996958
82.
GRCh37:
Chr1:230825865
GRCh38:
Chr1:230690119
COG2W634G, W633GCongenital disorder of glycosylation, type IIqPathogenic
(Mar 26, 2017)
no assertion criteria providedVCV000417771
83.
GRCh37:
Chr1:230825876
GRCh38:
Chr1:230690130
COG2not providedLikely benign
(Dec 18, 2018)
criteria provided, single submitterVCV000723753
84.
GRCh37:
Chr1:230825902
GRCh38:
Chr1:230690156
COG2Congenital disorder of glycosylation, type IIqUncertain significance
(May 21, 2018)
criteria provided, single submitterVCV000572881
85.
GRCh37:
Chr1:230827152
GRCh38:
Chr1:230691406
COG2V652I, V653Inot provided, Congenital disorder of glycosylation, type IIqLikely benign
(Oct 14, 2020)
criteria provided, single submitterVCV000729988
86.
GRCh37:
Chr1:230827221
GRCh38:
Chr1:230691475
COG2A676T, A675TCongenital disorder of glycosylation, type IIqUncertain significance
(Apr 20, 2018)
criteria provided, single submitterVCV000579951
87.
GRCh37:
Chr1:230827229
GRCh38:
Chr1:230691483
COG2Congenital disorder of glycosylation, type IIq, not providedLikely benign
(Jun 17, 2020)
criteria provided, single submitterVCV000729487
88.
GRCh37:
Chr1:230827232
GRCh38:
Chr1:230691486
COG2not providedBenign
(Nov 16, 2018)
criteria provided, single submitterVCV000739747
89.
GRCh37:
Chr1:230827256
GRCh38:
Chr1:230691510
COG2Congenital disorder of glycosylation, type IIqLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000715155
90.
GRCh37:
Chr1:230827260
GRCh38:
Chr1:230691514
COG2D688Y, D689YCongenital disorder of glycosylation, type IIqUncertain significance
(Sep 12, 2018)
criteria provided, single submitterVCV000639686
91.
GRCh37:
Chr1:230827305
GRCh38:
Chr1:230691559
COG2E703K, E704KCongenital disorder of glycosylation, type IIqLikely benign
(Mar 4, 2020)
criteria provided, single submitterVCV000752608
92.
GRCh37:
Chr1:230828873
GRCh38:
Chr1:230693127
COG2not providedBenign
(Sep 5, 2018)
no assertion criteria providedVCV001238822
93.
GRCh37:
Chr1:230828987
GRCh38:
Chr1:230693241
COG2not providedBenign
(Jul 27, 2018)
criteria provided, single submitterVCV001177936
94.
GRCh37:
Chr1:230829028
GRCh38:
Chr1:230693282
COG2not providedLikely benign
(Jun 16, 2018)
criteria provided, single submitterVCV000748225
95.
GRCh37:
Chr1:230829061
GRCh38:
Chr1:230693315
COG2not providedLikely benign
(Oct 4, 2017)
criteria provided, single submitterVCV000717647
96.
GRCh37:
Chr1:230829088
GRCh38:
Chr1:230693342
COG2Congenital disorder of glycosylation, type IIqBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000786727
97.
GRCh37:
Chr1:230829139
GRCh38:
Chr1:230693393
COG2Congenital disorder of glycosylation, type IIq, not providedBenign
(Dec 4, 2020)
criteria provided, single submitterVCV001164695
98.
GRCh37:
Chr1:230829506-230915958
GRCh38:
Chr1:230693760-230780212
AGT, CAPN9, COG2, LOC110121263See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000060111
99.
GRCh37:
Chr1:130980840-248900000