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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:187113113-224487119
GRCh38:
Chr1:187143981-224299417
HLX-AS1, LAD1, LOC122152294, LOC120908903, LOC122152297, RABIF, LOC122128411, LOC122149331, LOC112577527, ATF3, LINC02767, PIGR, ELF3-AS1, LOC112577542, LOC122149355, FAM72A, LOC112577533, BLACAT1, LOC120908908, RCOR3, ERLNC1, LINC00260, TRK-TTT8-1, LOC122149358, LINC01710, ELK4, LOC112577523, PLEKHA6, LEMD1-DT, FBXO28, RGS18, RGS1, KCNH1, LINC02779, CCDC185, SYT14, ADIPOR1, LOC122152298, LINC00467, MIR205HG, LOC120893176, MIR181A1, C1orf115, FLVCR1-DT, LOC110121257, LOC120908904, CDK18, NVL, LOC121725072, LOC113939983, C1orf74, SERTAD4-AS1, LINC01031, DYRK3, KCNH1-IT1, LOC121725074, BTG2-DT, LOC121725068, USH2A-AS2, LOC122149493, LOC115804237, LOC122152295, RPS6KC1, GPR25, GPATCH2, LOC122149344, TNNI1, MIR6769B, NFASC, LINC01221, ATP6V1G3, GPR37L1, SERTAD4, TRAF5, ARL8A, LOC122149348, ESRRG, NUCKS1, MYOG, MDM4, SCARNA18B, LOC111365207, PFKFB2, LOC115804243, BTG2, LOC122149488, LOC122152306, LOC112577534, LOC120893174, MIR181A1HG, CENPF, CACNA1S, KCNK2, AVPR1B, CTSE, LOC122152302, LOC122149489, PTPN7, LOC110121306, SPATA45, RO60, LOC111429612, BRINP3-DT, LOC111721704, LOC112577531, LOC115804245, RHEX, MIR4735, LINC00303, PPP1R15B, LRRN2, LINC02817, LAX1, SPATA17-AS1, LOC122149360, MFSD4A-AS1, ETNK2, DDX59, CFHR2, PIK3C2B, INTS7, PROX1, BPNT1, LOC121725069, LOC122149361, LINC02257, MYBPH, LINC00862, B3GALT2, LOC120908906, LOC284581, FCMR, EIF2D, CR2, LOC122149338, PPP2R5A, KCNT2, LOC110121042, CR1L, LINC00538, LOC107988045, CAMK1G, CSRP1, LOC122152304, ZBED6, LOC112577535, LOC110121057, LINC01655, MIR29B2CHG, YOD1, LOC122149494, LOC111556116, LOC112577537, MIR320B2, LOC112577530, NENF, LOC111429603, LINC01680, NEK2-DT, RGS13, ASPM, DENND1B, LOC101927164, RGS21, LOC122152299, DTL, CDC73, RGS2, SLC30A1, LOC122152301, PPP1R12B, NUAK2, KISS1, NR5A2, LMOD1, PROX1-AS1, TLR5, CSRP1-AS1, FLVCR1, LOC122152305, TRT-TGT2-1, LINC02602, IL20, FCAMR, EPRS1, TGFB2, LOC110120807, RRP15, LOC120893169, IKBKE, LOC121725070, C4BPB, BMNCR, CAMSAP2, MIR135B, CNTN2, UTP25, RNPEP, KDM5B, LOC120807609, LOC122152308, LINC01696, ZC3H11B, UBE2T, PRELP, REN, LINC02771, IPO9-AS1, LOC122149352, NAV1, LOC115804240, LOC122149345, LINC01693, LHX9, LOC120893171, MIR181B1, DEGS1, PCAT6, LOC122149353, LINC02474, LINC02869, MIR6739, SLC30A10, IRF6, FAM177B, LOC122149337, BROX, KIF14, TP53BP2, RAB29, HSD11B1-AS1, LOC101927143, LINC01698, GLRX2, TGFB2-AS1, LINC01774, PLXNA2, LOC122149359, LOC122149350, CFHR1, LOC122149333, LOC122149351, DISP1, ADORA1, IPO9, LOC122149490, LOC110120610, LOC122149354, LOC122152300, USH2A-AS1, LINC02773, FMOD, RBBP5, KCTD3, LOC122149362, CR1, LOC110121081, TRAF3IP3, LOC122149491, LOC115804239, TAF1A, DYRK3-AS1, SHISA4, LOC107325942, SUSD4, MIR205, LYPLAL1-DT, NSL1, LOC122149343, MYOPARR, C4BPA, LOC120893170, LOC148696, MFSD4A, CYB5R1, LOC114827844, SLC41A1, CAPN8, LOC120807610, SPATA17, LOC122152293, ELF3, OPTC, CFH, CAPN2, HHIPL2, PHLDA3, SLC26A9, MAPKAPK2, PTPN14, TMEM9, LINC01037, GARIN4, LINC01653, NEK7, KLHL12, LOC122149339, SNRPE, ZNF281, LOC122149340, TMEM183A, LOC122152307, SOX13, MIR3122, LOC112577538, MIR1231, RGS2-AS1, LEMD1-AS1, LOC121725073, TMEM81, IL10, LOC108281163, MIR4260, DUSP10, LOC120893172, TGFB2-OT1, LOC122149341, BRINP3, LOC122149346, DDX59-AS1, LINC00210, LOC122152303, LOC122149335, MTARC1, TNNT2, LOC121725071, LOC120893173, KLHDC8A, MIR29C, HHAT, ASCL5, CD46, SNORA16B, LOC121725067, LOC113939984, CFHR5, LINC01353, LINC01717, UCHL5, MTARC2, LOC112577526, PTPRC, TMCC2-AS1, LOC111429604, LINC02789, LINC01740, SNORA77, G0S2, LINC01352, LOC110121056, MIR5191, CRB1, LYPLAL1, SNORA70H, LOC115804238, LOC122149357, CFHR4, SNORA36B, LOC120893175, LINC01222, HSD11B1, TIMM17A, CFHR3, LOC122149487, LOC122149497, LAMB3, PACC1, LINC02769, LOC120908910, LINC02608, LOC112577536, BATF3, RASSF5, CHI3L1, LOC120908905, LOC107548112, IL24, LYPLAL1-AS1, ZBTB41, LOC122149356, C1orf116, LINC01036, LOC115804242, SLC45A3, MIR215, LOC107325941, LOC122149495, MIR1278, TRK-TTT3-1, LOC122094914, LOC120908909, F13B, GOLT1A, LOC122149334, PKP1, LOC120908907, LOC122149496, AIDA, LPGAT1-AS1, MIR29B2, LOC112577529, SMYD2, MIR194-1, LOC112577528, RD3, TAF1A-AS1, LOC122152296, TATDN3, DSTYK, NEK2, LGR6, LOC122149336, HLX, MIR4426, PM20D1, LOC122149342, ATP2B4, LOC108281185, LOC103021295, LINC01724, LOC122149349, LOC112577532, LINC00628, SLC26A9-AS1, LOC115804246, C1orf147, ZC3H11A, SRGAP2, LOC115804244, C1orf53, USH2A, LINC01720, PPFIA4, RAB7B, SYT2, INAVA, LEMD1, MIR6740, LOC122149492, ANGEL2, KIF21B, RAB3GAP2, VASH2, CD55, CD34, LOC112577543, LOC122149332, MIR664A, IARS2, TMCC2, TRK-TTT3-2, IL19, LOC122149347, MIA3, LPGAT1, MARK1, IGFN1, CHIT1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058112
2.
GRCh37:
Chr1:204734042-225596400
GRCh38:
Chr1:204764914-225408698
AIDA, ANGEL2, ATF3, AVPR1B, BATF3, BLACAT1, BPNT1, BROX, C1orf115, C1orf116, C1orf147, C1orf74, C4BPA, C4BPB, CAMK1G, CAPN2, CAPN8, CCDC185, CD34, CD46, CD55, CDK18, CENPF, CNIH3, CNIH3-AS1, CNIH3-AS2, CNIH4, CNTN2, CR1, CR1L, CR2, CTSE, DEGS1, DISP1, DNAH14, DSTYK, DTL, DUSP10, DYRK3, DYRK3-AS1, EIF2D, ELK4, EPRS1, ESRRG, FAM177B, FAM72A, FBXO28, FCAMR, FCMR, FLVCR1, FLVCR1-DT, G0S2, GARIN4, GPATCH2, HHAT, HHIPL2, HLX, HLX-AS1, HSD11B1, HSD11B1-AS1, IARS2, IKBKE, IL10, IL19, IL20, IL24, INTS7, IRF6, KCNH1, KCNH1-IT1, KCNK2, KCTD3, KLHDC8A, LAMB3, LBR, LEMD1, LEMD1-AS1, LEMD1-DT, LINC00210, LINC00467, LINC00538, LINC01352, LINC01653, LINC01655, LINC01693, LINC01696, LINC01698, LINC01710, LINC01717, LINC01740, LINC01774, LINC02257, LINC02474, LINC02602, LINC02608, LINC02767, LINC02769, LINC02771, LINC02773, LINC02779, LINC02817, LINC02869, LOC101927143, LOC101927164, LOC103021295, LOC107325941, LOC107325942, LOC110120610, LOC110120807, LOC110121042, LOC110121057, LOC110121257, LOC110121306, LOC111429604, LOC112577532, LOC112577533, LOC112577534, LOC112577535, LOC112577536, LOC112577537, LOC112577538, LOC112577542, LOC112577543, LOC112577544, LOC113939983, LOC113939984, LOC115804244, LOC115804245, LOC115804246, LOC120807609, LOC120807610, LOC120893176, LOC120908903, LOC120908904, LOC120908905, LOC120908906, LOC120908907, LOC120908908, LOC120908909, LOC120908910, LOC121725070, LOC121725071, LOC121725072, LOC121725073, LOC121725074, LOC122094914, LOC122128411, LOC122149352, LOC122149353, LOC122149354, LOC122149355, LOC122149356, LOC122149357, LOC122149358, LOC122149359, LOC122149360, LOC122149361, LOC122149362, LOC122149487, LOC122149488, LOC122149489, LOC122149490, LOC122149491, LOC122149492, LOC122149493, LOC122149494, LOC122149495, LOC122149496, LOC122149497, LOC122152293, LOC122152294, LOC122152295, LOC122152296, LOC122152297, LOC122152298, LOC122152299, LOC122152300, LOC122152301, LOC122152302, LOC122152303, LOC122152304, LOC122152305, LOC122152306, LOC122152307, LOC122152308, LOC148696, LOC284581, LPGAT1, LPGAT1-AS1, LYPLAL1, LYPLAL1-AS1, LYPLAL1-DT, MAPKAPK2, MARK1, MFSD4A, MFSD4A-AS1, MIA3, MIR135B, MIR194-1, MIR205, MIR205HG, MIR215, MIR29B2, MIR29B2CHG, MIR29C, MIR3122, MIR320B2, MIR4260, MIR4742, MIR664A, MIR6769B, MTARC1, MTARC2, NEK2, NEK2-DT, NENF, NFASC, NSL1, NUAK2, NUCKS1, NVL, PACC1, PFKFB2, PIGR, PLXNA2, PM20D1, PPP2R5A, PROX1, PROX1-AS1, PTPN14, RAB29, RAB3GAP2, RAB7B, RASSF5, RBBP5, RCOR3, RD3, RHEX, RPS6KC1, RRP15, SERTAD4, SERTAD4-AS1, SLC26A9, SLC26A9-AS1, SLC30A1, SLC30A10, SLC41A1, SLC45A3, SMYD2, SNORA16B, SNORA36B, SPATA17, SPATA17-AS1, SPATA45, SRGAP2, SUSD4, SYT14, TAF1A, TAF1A-AS1, TATDN3, TGFB2, TGFB2-AS1, TGFB2-OT1, TLR5, TMCC2, TMCC2-AS1, TMEM81, TP53BP2, TRAF3IP3, TRAF5, TRK-TTT8-1, TRT-TGT2-1, USH2A, USH2A-AS1, USH2A-AS2, UTP25, VASH2, WDR26, YOD1, ZC3H11B
See casesPathogenic
(Sep 18, 2013)
no assertion criteria providedVCV000153790
3.
GRCh37:
Chr1:207519987-249224684
GRCh38:
Chr1:207346642-248930485
SDE2, SERTAD4, SERTAD4-AS1, SH3BP5L, SIPA1L2, SLC30A1, SLC30A10, SLC35F3, SLC35F3-AS1, SMYD2, SMYD3, SMYD3-AS1, SNAP47, SNORA100, SNORA14B, SNORA16B, SNORA36B, SPATA17, SPATA17-AS1, SPATA45, SPHAR, SPRTN, SRP9, STUM, SUSD4, SYT14, TAF1A, TAF1A-AS1, TAF5L, TARBP1, TATDN3, TBCE, TFB2M, TGFB2, TGFB2-AS1, TGFB2-OT1, TLR5, TMEM63A, TMEM78, TOMM20, TP53BP2, TRAF3IP3, TRAF5, TRE-CTC2-1, TRIM11, TRIM17, TRIM58, TRIM67, TRIM67-AS1, TRL-CAA4-1, TRT-TGT2-1, TSNAX, TSNAX-DISC1, TTC13, URB2, USH2A, USH2A-AS1, USH2A-AS2, UTP25, VASH2, VN1R5, WDR26, WDR64, WNT3A, WNT9A, ZBTB18, ZC3H11B, ZNF124, ZNF496, ZNF496-DT, ZNF669, ZNF670, ZNF670-ZNF695, ZNF672, ZNF678, ZNF692, ZNF695, ZP4, ABCB10, ACBD3, ACBD3-AS1, ACTA1, ACTN2, ADSS2, AGT, AHCTF1, AIDA, AKT3, ANGEL2, ARF1, ARID4B, ARV1, ATF3, B3GALNT2, BATF3, BECN2, BPNT1, BROX, BTNL10, C1orf100, C1orf115, C1orf131, C1orf198, C1orf35, C1orf74, CAMK1G, CAPN2, CAPN8, CAPN9, CATSPERE, CCDC185, CCSAP, CD34, CD46, CD55, CDC42BPA, CENPF, CEP170, CHML, CHRM3, CHRM3-AS1, CHRM3-AS2, CNIH3, CNIH3-AS1, CNIH3-AS2, CNIH4, CNST, COA6, COA6-AS1, COG2, COQ8A, COX20, CR1, CR1L, CR2, DEGS1, DESI2, DISC1, DISC1-IT1, DISC2, DISP1, DNAH14, DTL, DUSP10, EDARADD, EFCAB2, EGLN1, ENAH, EPHX1, EPRS1, ERO1B, ESRRG, EXO1, EXOC8, FAM177B, FAM89A, FBXO28, FH, FLJ39095, FLVCR1, FLVCR1-DT, FMN2, G0S2, GALNT2, GARIN4, GCSAML, GCSAML-AS1, GGPS1, GJC2, GNG4, GNPAT, GPATCH2, GPR137B, GREM2, GUK1, H2AW, H2BU1, H3-3A, H3-4, HEATR1, HHAT, HHIPL2, HLX, HLX-AS1, HNRNPU, HNRNPU-AS1, HSD11B1, HSD11B1-AS1, IARS2, IBA57, IBA57-DT, INTS7, IRF2BP2, IRF6, ITPKB, ITPKB-IT1, JMJD4, KCNH1, KCNH1-IT1, KCNK1, KCNK2, KCTD3, KIF26B, KIF26B-AS1, KMO, LAMB3, LBR, LEFTY1, LEFTY2, LGALS8, LGALS8-AS1, LIN9, LINC00184, LINC00210, LINC00467, LINC00538, LINC00582, LINC01132, LINC01139, LINC01341, LINC01347, LINC01348, LINC01352, LINC01354, LINC01641, LINC01653, LINC01655, LINC01682, LINC01693, LINC01696, LINC01698, LINC01703, LINC01710, LINC01717, LINC01736, LINC01737, LINC01740, LINC01743, LINC01744, LINC01745, LINC01774, LINC02257, LINC02474, LINC02602, LINC02608, LINC02765, LINC02767, LINC02768, LINC02769, LINC02771, LINC02773, LINC02774, LINC02779, LINC02809, LINC02815, LINC02817, LINC02869, LINC02897, LINC02961, LOC100130093, LOC101927143, LOC101927164, LOC101927604, LOC101927787, LOC101927851, LOC101928068, LOC105373289, LOC107325941, LOC107325942, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC107985355, LOC108004528, LOC110120610, LOC110120698, LOC110120807, LOC110121042, LOC110121057, LOC110121205, LOC110121251, LOC110121257, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC110121306, LOC110121307, 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, LOC121725072, LOC121725073, LOC121725074, LOC121725075, LOC121725076, LOC122149487, LOC122149488, LOC122149489, LOC122149490, LOC122149491, LOC122149492, LOC122149493, LOC122149494, LOC122149495, LOC122149496, LOC122149497, LOC122152293, LOC122152294, LOC122152295, LOC122152296, LOC122152297, LOC122152298, LOC122152299, LOC122152300, LOC122152301, LOC122152302, LOC122152303, LOC122152304, LOC122152305, LOC122152306, LOC122152307, LOC122152308, LOC122152309, LOC122152310, LOC122152311, LOC122152312, LOC122152313, LOC122152314, LOC122152315, LOC122152316, LOC122152317, LOC122152318, LOC122152319, LOC122152320, LOC122152321, LOC122152322, LOC122152332, LOC122152333, LOC122152334, LOC122152335, LOC122152336, LOC122152337, LOC122152338, LOC122152339, LOC122152340, LOC122152341, LOC122152342, LOC122152343, LOC122152344, LOC122152345, LOC122152346, LOC122152347, LOC122152348, LOC122152349, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC122152355, LOC122152356, LOC122152357, LOC122152358, LOC122152359, LOC122152360, LOC122152361, LOC122152362, LOC122455338, LOC122526782, LOC148696, LPGAT1, LPGAT1-AS1, LYPD8, LYPLAL1, LYPLAL1-AS1, LYPLAL1-DT, LYST, MAP10, MAP1LC3C, MAP3K21, MARK1, MIA3, MIR1182, MIR1537, MIR194-1, MIR205, MIR205HG, MIR215, MIR29B2, MIR29B2CHG, MIR29C, MIR3122, MIR3123, MIR3124, MIR320B2, MIR3620, MIR3916, MIR4260, MIR4427, MIR4428, MIR4666A, MIR4671, MIR4677, MIR4742, MIR4753, MIR5008, MIR664A, MIR6741, MIR6742, MIXL1, MRPL55, MT1HL1, MTARC1, MTARC2, MTR, NEK2, NEK2-DT, NENF, NID1, NLRP3, NSL1, NTPCR, NUP133, NUP133-DT, NVL, OBSCN, OBSCN-AS1, OPN3, OR11L1, OR13G1, OR14A16, OR14A2, OR14C36, OR14I1, OR14K1, OR14L1P, OR1C1, OR2AJ1, OR2AK2, OR2B11, OR2C3, OR2G2, OR2G3, OR2G6, OR2L13, OR2L2, OR2L3, OR2L5, OR2L8, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T7, OR2T8, OR2W3, OR6F1, OR9H1P, PACC1, PARP1, PCNX2, PGBD2, PGBD5, PLD5, PLXNA2, PPP2R5A, PROX1, PROX1-AS1, PRSS38, PSEN2, PTPN14, PYCR2, RAB3GAP2, RAB4A, RAB4A-AS1, RBM34, RCOR3, RD3, RGS7, RHOU, RNA5S1, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNF187, RPS6KC1, RRP15, RYR2, SCCPDH, SDCCAG8
See casesPathogenic
(Mar 10, 2014)
no assertion criteria providedVCV000155660
4.
GRCh37:
Chr1:209819552-249225312
GRCh38:
Chr1:209646207-248931113
CNIH3-AS2, LOC120908911, TGFB2-OT1, LOC120908904, SCCPDH, LEFTY2, GNPAT, LOC112577537, RNA5S11, LOC122152294, OR14A2, MIXL1, FAM89A, LYPD8, LINC01736, LOC120908919, TMEM78, RAB3GAP2, LOC122152315, LOC122152303, LOC122152347, H3-3A, LOC120908910, NUP133-DT, LOC111828504, LOC122152342, LOC112577557, KMO, OR6F1, RAB4A, HEATR1, LOC110121257, MIR320B2, LOC122152310, LOC110121205, LOC121725074, OR2L13, LINC01347, LINC01653, LINC01693, LOC122152302, RBM34, LOC122152336, LOC110120698, LOC113939984, TRIM11, LINC02869, ZNF670, ACBD3, LOC115804246, IARS2, LOC112577560, ZNF670-ZNF695, LOC112577535, NTPCR, HHIPL2, WDR64, OR1C1, LOC122149494, TRIM67-AS1, SNORA36B, ITPKB-IT1, OR14A16, MIR4742, PCNX2, TRT-TGT2-1, RYR2, ZBTB18, KCNK2, ARF1, OR2M7, SDCCAG8, CHRM3, SLC30A1, MIR3620, LOC111429604, LOC107546780, LOC122152305, PYCR2, OR2T12, BTNL10, LOC122152346, SPHAR, LOC115804247, CNIH3-AS1, DISC2, OR2L3, LOC120947224, MIR4677, LEFTY1, MIR6741, CNST, LOC108004528, MIR1182, LOC120908905, EXO1, LOC100130093, ARV1, LINC02897, LOC120908916, LOC122149497, LINC01744, LOC113939983, ZNF678, NEK2, LOC107546745, OR2T33, LINC00210, LINC01737, CAPN9, ERO1B, CHML, LOC110121057, LIN9, LOC122152351, LPGAT1, SNORA100, RNA5S14, IRF2BP2, GJC2, LINC01682, MIR4428, ACTN2, RHOU, KCNH1, SMYD2, LINC02774, PRSS38, OR2T1, NSL1, G0S2, LOC122152334, LGALS8-AS1, MIR6742, CAPN2, OR2G6, LOC120908915, LOC120908921, LOC110121263, PARP1, LOC122152306, LOC120908917, SPATA45, COX20, MIR4427, GGPS1, ANGEL2, MTARC1, LINC00582, OR2T5, RAB4A-AS1, LOC121725072, RNA5S1, MARK1, PROX1, LOC122152320, LOC120908914, LOC107985355, SLC35F3, ATF3, OR2M5, OR14C36, MIR3916, C1orf100, DEGS1, LOC121725073, HNRNPU-AS1, LOC122152311, LYST, SLC30A10, LOC122152344, LOC112577538, RNA5S12, LOC122152307, LINC02771, OR2L5, GREM2, CNIH4, SUSD4, URB2, WDR26, RNA5S10, OR2W3, LOC122152340, MIR215, LOC122152319, USH2A, ABCB10, OR2M2, LINC01352, LINC01743, EDARADD, MAP1LC3C, CDC42BPA, MTARC2, MIR4666A, VN1R5, SMYD3-AS1, LOC112577548, LINC02768, LOC122149492, LOC115804250, LOC121725075, GARIN4, OR14I1, TRIM58, AGT, ZNF695, RNA5S3, LOC120908920, RNA5S7, LINC01132, LOC107325941, LOC122152296, LOC122152341, DNAH14, LOC122152355, CENPF, PGBD2, LOC112577568, MIR3124, LOC122152300, LOC112577544, STUM, LOC112577567, LOC120807610, LOC122152359, IBA57, LOC121725076, USH2A-AS1, ZNF669, ZNF124, SLC35F3-AS1, LOC122152316, LOC110121251, LOC115804252, LOC110121042, LINC00538, RNA5S8, PACC1, LOC112577561, LOC115804249, LOC112577555, COG2, RNA5S13, LOC120908907, LOC112577545, BROX, LOC110121307, NLRP3, OR11L1, SPATA17, DUSP10, LOC112577547, LINC01139, CNIH3, CAPN8, TFB2M, LOC120908903, LOC122152362, LOC112577552, IRF6, OR2L8, EGLN1, TRIM67, FAM177B, EXOC8, ZNF496, LOC122152361, MIR664A, ZP4, RGS7, LINC02961, RNA5S4, RNA5S16, LOC122152358, MTR, NVL, FH, TAF1A, TATDN3, CHRM3-AS1, RNA5S15, H2AW, LOC122152350, TARBP1, TP53BP2, PROX1-AS1, HLX, LYPLAL1-AS1, SRP9, GPATCH2, MIA3, CHRM3-AS2, HSD11B1-AS1, LOC122152333, KCTD3, FLJ39095, MIR3123, LOC101927164, LOC122149495, GALNT2, HNRNPU, TAF1A-AS1, LINC02815, OR2T2, BATF3, ACTA1, KCNH1-IT1, LINC02608, OR2T34, LOC122152357, GCSAML-AS1, LOC122152299, OR2AJ1, SERTAD4-AS1, B3GALNT2, LOC101928068, VASH2, LOC113939987, SIPA1L2, LOC101927787, LOC107546778, LINC01341, LOC101927851, LOC122152313, GCSAML, LOC122152349, TGFB2-AS1, LOC110121265, PLD5, LYPLAL1-DT, LOC122149496, COA6-AS1, LOC122152345, LOC107546746, LAMB3, LOC122152343, DISC1-IT1, ZC3H11B, ADSS2, LOC122152308, LOC107325942, NID1, HLX-AS1, INTS7, LINC02257, LPGAT1-AS1, ZNF672, HSD11B1, OR2T29, LOC122152318, PGBD5, TMEM63A, CCSAP, EPRS1, OBSCN, LOC112577559, LINC02817, C1orf35, PTPN14, ESRRG, AKT3, LINC01354, TLR5, MAP3K21, LOC101927604, LOC122152309, ENAH, SNORA16B, LOC122152348, KIF26B, LOC122149491, FLVCR1-DT, LOC110120807, TTC13, MIR4671, RPS6KC1, GUK1, DISP1, ARID4B, LOC112577566, COQ8A, LOC101927143, LOC120908906, LOC110120610, LOC122152338, LYPLAL1, MIR4753, ZNF496-DT, TRE-CTC2-1, SH3BP5L, RNA5S2, OR2C3, OR2B11, ITPKB, OBSCN-AS1, LOC122152352, LOC122152360, LOC110121266, OR2T6, LOC122152293, ACBD3-AS1, FLVCR1, MRPL55, LOC107546747, LOC112577536, RNA5S6, IBA57-DT, LOC105373289, HHAT, LOC112577546, SPRTN, SERTAD4, FBXO28, LOC111365197, OR2T11, LINC01710, LOC122152314, LOC122152297, LOC122152312, LOC107548103, OR2T27, LOC122455338, NUP133, LOC115804256, AHCTF1, WNT9A, GNG4, DTL, LOC122526782, LINC02474, LOC122152356, OR14L1P, LINC01655, LINC02773, LINC01703, OR2G3, SPATA17-AS1, TSNAX-DISC1, JMJD4, LOC122152321, TRAF5, C1orf198, LINC01745, LOC122149493, LOC115804253, NENF, TRL-CAA4-1, LOC110121264, LOC122152354, TAF5L, OR2T10, OR2M4, LOC122152332, MIR1537, LOC112577558, OPN3, LOC120908918, OR2M3, SNAP47, LOC120908909, PPP2R5A, TGFB2, LINC00184, LOC112577569, MIR3122, LOC111365208, LINC01348, OR9H1P, LOC120908912, LOC112577565, TBCE, LINC00467, LBR, LOC115804251, TOMM20, KCNK1, H2BU1, CEP170, LINC02765, SNORA14B, C1orf115, C1orf74, OR2L2, LOC120807606, TSNAX, BPNT1, OR2T8, LOC115804248, LGALS8, MIR194-1, LOC120908922, LINC01740, LINC02602, C1orf131, FMN2, TRIM17, DESI2, OR2T4, CATSPERE, RNA5S5, RRP15, LOC112577556, MT1HL1, OR14K1, AIDA, OR13G1, SDE2, OR2T35, WNT3A, LOC122152304, OR2T7, LOC120908913, RD3, GPR137B, LOC110121306, MIR5008, TRAF3IP3, LOC120908923, LOC122152337, RCOR3, ZNF692, COA6, KIF26B-AS1, SYT14, OR2T3, PSEN2, OR2G2, LINC01641, USH2A-AS2, RNA5S17, LOC122152335, LOC112577554, DISC1, LINC02809, LOC122152317, UTP25, LOC112577543, BECN2, H3-4, LOC122152301, RNA5S9, EFCAB2, LOC115804254, MAP10, LINC02779, SMYD3, LOC115804245, LOC122152298, LOC115804255, LOC122152339, NEK2-DT, LOC122152322, LOC120908908, OR2AK2, RNF187, LOC112577542, LOC122152295, CCDC185, LOC122152353, EPHX1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058116
5.
GRCh37:
Chr1:210136970-249212668
GRCh38:
Chr1:209963625-248918469
CEP170, CHML, CHRM3, CHRM3-AS1, CHRM3-AS2, CNIH3, CNIH3-AS1, CNIH3-AS2, CNIH4, CNST, COA6, COA6-AS1, COG2, COQ8A, COX20, DEGS1, DESI2, DISC1, DISC1-IT1, DISC2, DISP1, DNAH14, DTL, DUSP10, EDARADD, EFCAB2, EGLN1, ENAH, EPHX1, EPRS1, ERO1B, ESRRG, EXO1, EXOC8, FAM177B, FAM89A, FBXO28, FH, FLJ39095, FLVCR1, FLVCR1-DT, FMN2, GALNT2, GARIN4, GCSAML, GCSAML-AS1, GGPS1, GJC2, GNG4, GNPAT, GPATCH2, GPR137B, GREM2, GUK1, H2AW, H2BU1, H3-3A, H3-4, HEATR1, HHAT, HHIPL2, HLX, HLX-AS1, HNRNPU, HNRNPU-AS1, IARS2, IBA57, IBA57-DT, INTS7, IRF2BP2, ITPKB, ITPKB-IT1, JMJD4, KCNH1, KCNH1-IT1, KCNK1, KCNK2, KCTD3, KIF26B, KIF26B-AS1, KMO, LBR, LEFTY1, LEFTY2, LGALS8, LGALS8-AS1, LIN9, LINC00184, LINC00210, LINC00467, LINC00538, LINC00582, LINC01132, LINC01139, LINC01341, LINC01347, LINC01348, LINC01352, LINC01354, LINC01641, LINC01653, LINC01655, LINC01682, LINC01693, LINC01703, LINC01710, LINC01736, LINC01737, LINC01740, LINC01743, LINC01744, LINC01745, LINC02257, LINC02474, LINC02602, LINC02608, LINC02765, LINC02768, LINC02771, LINC02773, LINC02774, LINC02779, LINC02809, LINC02815, LINC02817, LINC02869, LINC02897, LINC02961, LOC100130093, LOC101927143, LOC101927164, LOC101927604, LOC101927787, LOC101927851, LOC101928068, LOC105373289, LOC107325941, LOC107325942, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC107985355, LOC108004528, LOC110120610, LOC110120698, LOC110121042, LOC110121057, LOC110121205, LOC110121251, LOC110121257, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC110121306, LOC110121307, 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, LOC121725072, LOC121725073, LOC121725074, LOC121725075, LOC121725076, LOC122149491, LOC122149492, LOC122149493, LOC122149494, LOC122149495, LOC122149496, LOC122149497, LOC122152293, LOC122152294, LOC122152295, LOC122152296, LOC122152297, LOC122152298, LOC122152299, LOC122152300, LOC122152301, LOC122152302, LOC122152303, LOC122152304, LOC122152305, LOC122152306, LOC122152307, LOC122152308, LOC122152309, LOC122152310, LOC122152311, LOC122152312, LOC122152313, LOC122152314, LOC122152315, LOC122152316, LOC122152317, LOC122152318, LOC122152319, LOC122152320, LOC122152321, LOC122152322, LOC122152332, LOC122152333, LOC122152334, LOC122152335, LOC122152336, LOC122152337, LOC122152338, LOC122152339, LOC122152340, LOC122152341, LOC122152342, LOC122152343, LOC122152344, LOC122152345, LOC122152346, LOC122152347, LOC122152348, LOC122152349, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC122152355, LOC122152356, LOC122152357, LOC122152358, LOC122152359, LOC122152360, LOC122152361, LOC122152362, LOC122455338, LOC122526782, LPGAT1, LPGAT1-AS1, LYPD8, LYPLAL1, LYPLAL1-AS1, LYPLAL1-DT, LYST, MAP10, MAP1LC3C, MAP3K21, MARK1, MIA3, MIR1182, MIR1537, MIR194-1, MIR215, MIR3122, MIR3123, MIR3124, MIR320B2, MIR3620, MIR3916, MIR4427, MIR4428, MIR4666A, MIR4671, MIR4677, MIR4742, MIR4753, MIR5008, MIR664A, MIR6741, MIR6742, MIXL1, MRPL55, MT1HL1, MTARC1, MTARC2, MTR, NEK2, NEK2-DT, NENF, NID1, NLRP3, NSL1, NTPCR, NUP133, NUP133-DT, NVL, OBSCN, OBSCN-AS1, OPN3, OR11L1, OR13G1, OR14A16, OR14A2, OR14C36, OR14I1, OR14K1, OR14L1P, OR1C1, OR2AJ1, OR2AK2, OR2B11, OR2C3, OR2G2, OR2G3, OR2G6, OR2L13, OR2L2, OR2L3, OR2L5, OR2L8, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T7, OR2T8, OR2W3, OR6F1, OR9H1P, PACC1, PARP1, PCNX2, PGBD2, PGBD5, PLD5, PPP2R5A, PROX1, PROX1-AS1, PRSS38, PSEN2, PTPN14, PYCR2, RAB3GAP2, RAB4A, RAB4A-AS1, RBM34, RCOR3, RD3, RGS7, RHOU, RNA5S1, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNF187, RPS6KC1, RRP15, RYR2, SCCPDH, SDCCAG8, SDE2, SERTAD4, SERTAD4-AS1, SH3BP5L, SIPA1L2, SLC30A1, SLC30A10, SLC35F3, SLC35F3-AS1, SMYD2, SMYD3, SMYD3-AS1, SNAP47, SNORA100, SNORA14B, SNORA16B, SNORA36B, SPATA17, SPATA17-AS1, SPATA45, SPHAR, SPRTN, SRP9, STUM, SUSD4, SYT14, TAF1A, TAF1A-AS1, TAF5L, TARBP1, TATDN3, TBCE, TFB2M, TGFB2, TGFB2-AS1, TGFB2-OT1, TLR5, TMEM63A, TMEM78, TOMM20, TP53BP2, TRAF5, TRE-CTC2-1, TRIM11, TRIM17, TRIM58, TRIM67, TRIM67-AS1, TRL-CAA4-1, TRT-TGT2-1, TSNAX, TSNAX-DISC1, TTC13, URB2, USH2A, USH2A-AS1, USH2A-AS2, VASH2, VN1R5, WDR26, WDR64, WNT3A, WNT9A, ZBTB18, ZC3H11B, ZNF124, ZNF496, ZNF496-DT, ZNF669, ZNF670, ZNF670-ZNF695, ZNF672, ZNF678, ZNF692, ZNF695, ZP4, ABCB10, ACBD3, ACBD3-AS1, ACTA1, ACTN2, ADSS2, AGT, AHCTF1, AIDA, AKT3, ANGEL2, ARF1, ARID4B, ARV1, ATF3, B3GALNT2, BATF3, BECN2, BPNT1, BROX, BTNL10, C1orf100, C1orf115, C1orf131, C1orf198, C1orf35, CAPN2, CAPN8, CAPN9, CATSPERE, CCDC185, CCSAP, CDC42BPA, CENPF
See casesPathogenic
(Jan 5, 2011)
no assertion criteria providedVCV000145652
6.
GRCh37:
Chr1:213031614
GRCh38:
Chr1:212858272
FLVCR1Posterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000295306
7.
GRCh37:
Chr1:213031627
GRCh38:
Chr1:212858285
FLVCR1Posterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000876706
8.
GRCh37:
Chr1:213031629
GRCh38:
Chr1:212858287
FLVCR1Posterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000876707
9.
GRCh37:
Chr1:213031639
GRCh38:
Chr1:212858297
FLVCR1Posterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000295307
10.
GRCh37:
Chr1:213031641
GRCh38:
Chr1:212858299
FLVCR1Posterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000876708
11.
GRCh37:
Chr1:213031691
GRCh38:
Chr1:212858349
FLVCR1Posterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000876709
12.
GRCh37:
Chr1:213031708
GRCh38:
Chr1:212858366
FLVCR1Posterior column ataxia-retinitis pigmentosa syndromeLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000295308
13.
GRCh37:
Chr1:213031709
GRCh38:
Chr1:212858367
FLVCR1Posterior column ataxia-retinitis pigmentosa syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000295309
14.
GRCh37:
Chr1:213031759
GRCh38:
Chr1:212858417
FLVCR1Posterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000295310
15.
GRCh37:
Chr1:213031788
GRCh38:
Chr1:212858446
FLVCR1not providedUncertain significance
(Feb 5, 2018)
criteria provided, single submitterVCV000585883
16.
GRCh37:
Chr1:213031796
GRCh38:
Chr1:212858454
FLVCR1M1TPosterior column ataxia-retinitis pigmentosa syndrome, Inborn genetic diseasesPathogenic/Likely pathogenic
(Apr 8, 2021)
criteria provided, multiple submitters, no conflictsVCV000521372
17.
GRCh37:
Chr1:213031797
GRCh38:
Chr1:212858455
FLVCR1M1Inot provided, Inborn genetic diseasesPathogenic
(Apr 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000521373
18.
GRCh37:
Chr1:213031800
GRCh38:
Chr1:212858458
FLVCR1not providedLikely benign
(Oct 14, 2020)
criteria provided, single submitterVCV001124244
19.
GRCh37:
Chr1:213031801
GRCh38:
Chr1:212858459
FLVCR1R3Wnot provided, Inborn genetic diseases, Retinal dystrophy
Uncertain significance
(Apr 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000521374
20.
GRCh37:
Chr1:213031812
GRCh38:
Chr1:212858470
FLVCR1D6Enot providedUncertain significance
(Oct 30, 2019)
criteria provided, single submitterVCV000994877
21.
GRCh37:
Chr1:213031819
GRCh38:
Chr1:212858477
FLVCR1G9Rnot provided, Retinal dystrophyUncertain significance
(Feb 14, 2020)
criteria provided, multiple submitters, no conflictsVCV000865989
22.
GRCh37:
Chr1:213031820
GRCh38:
Chr1:212858478
FLVCR1G9Enot providedUncertain significance
(Dec 24, 2019)
criteria provided, single submitterVCV000851111
23.
GRCh37:
Chr1:213031824
GRCh38:
Chr1:212858482
FLVCR1not providedUncertain significance
(Sep 1, 2016)
criteria provided, single submitterVCV000806344
24.
GRCh37:
Chr1:213031834
GRCh38:
Chr1:212858492
FLVCR1P14Snot providedUncertain significance
(Oct 9, 2020)
criteria provided, single submitterVCV000835909
25.
GRCh37:
Chr1:213031836
GRCh38:
Chr1:212858494
FLVCR1not provided, Posterior column ataxia-retinitis pigmentosa syndromeConflicting interpretations of pathogenicity
(Aug 18, 2020)
criteria provided, conflicting interpretationsVCV000295311
26.
GRCh37:
Chr1:213031843
GRCh38:
Chr1:212858501
FLVCR1P17Anot providedUncertain significance
(Feb 7, 2020)
criteria provided, multiple submitters, no conflictsVCV000804813
27.
GRCh37:
Chr1:213031845
GRCh38:
Chr1:212858503
FLVCR1Posterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000295312
28.
GRCh37:
Chr1:213031863
GRCh38:
Chr1:212858521
FLVCR1not providedLikely benign
(Oct 4, 2020)
criteria provided, single submitterVCV000735691
29.
GRCh37:
Chr1:213031865
GRCh38:
Chr1:212858523
FLVCR1P24Lnot providedUncertain significance
(Dec 6, 2019)
criteria provided, multiple submitters, no conflictsVCV000804814
30.
GRCh37:
Chr1:213031869
GRCh38:
Chr1:212858527
FLVCR1not providedLikely benign
(Dec 24, 2019)
criteria provided, single submitterVCV001102544
31.
GRCh37:
Chr1:213031876
GRCh38:
Chr1:212858534
FLVCR1G28Snot provided, Posterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Oct 10, 2020)
criteria provided, multiple submitters, no conflictsVCV000873876
32.
GRCh37:
Chr1:213031881
GRCh38:
Chr1:212858539
FLVCR1Jeune thoracic dystrophyLikely pathogenicno assertion criteria providedVCV000617855
33.
GRCh37:
Chr1:213031906
GRCh38:
Chr1:212858564
FLVCR1L38Vnot providedUncertain significance
(Aug 5, 2020)
criteria provided, single submitterVCV001003452
34.
GRCh37:
Chr1:213031927
GRCh38:
Chr1:212858585
FLVCR1G45SRetinal dystrophy, not providedUncertain significance
(Sep 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000391253
35.
GRCh37:
Chr1:213031937
GRCh38:
Chr1:212858595
FLVCR1P48Lnot providedUncertain significance
(Oct 14, 2019)
criteria provided, single submitterVCV000994876
36.
GRCh37:
Chr1:213031948
GRCh38:
Chr1:212858606
FLVCR1A52Pnot specified, Posterior column ataxia-retinitis pigmentosa syndrome, not provided
Benign
(Aug 10, 2021)
criteria provided, multiple submitters, no conflictsVCV000129102
37.
GRCh37:
Chr1:213031963
GRCh38:
Chr1:212858621
FLVCR1L57Vnot providedUncertain significance
(Sep 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000960843
38.
GRCh37:
Chr1:213031971
GRCh38:
Chr1:212858629
FLVCR1not providedLikely benign
(Dec 11, 2019)
criteria provided, single submitterVCV001085283
39.
GRCh37:
Chr1:213031972-213031973
GRCh38:
Chr1:212858630-212858631
FLVCR1A60Inot providedUncertain significance
(May 7, 2020)
criteria provided, single submitterVCV001021896
40.
GRCh37:
Chr1:213031972
GRCh38:
Chr1:212858630
FLVCR1A60Snot providedUncertain significance
(Aug 14, 2020)
criteria provided, single submitterVCV001006567
41.
GRCh37:
Chr1:213031992
GRCh38:
Chr1:212858650
FLVCR1not providedLikely benign
(Nov 26, 2019)
criteria provided, single submitterVCV001094540
42.
GRCh37:
Chr1:213031995
GRCh38:
Chr1:212858653
FLVCR1not providedLikely benign
(Feb 14, 2020)
criteria provided, single submitterVCV001159326
43.
GRCh37:
Chr1:213031996
GRCh38:
Chr1:212858654
FLVCR1Q68Enot providedUncertain significance
(Mar 11, 2020)
criteria provided, single submitterVCV000863677
44.
GRCh37:
Chr1:213032010
GRCh38:
Chr1:212858668
FLVCR1not providedLikely benign
(Mar 30, 2018)
criteria provided, single submitterVCV000738292
45.
GRCh37:
Chr1:213032030
GRCh38:
Chr1:212858688
FLVCR1A79VPosterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jun 13, 2018)
criteria provided, single submitterVCV001033256
46.
GRCh37:
Chr1:213032035
GRCh38:
Chr1:212858693
FLVCR1Posterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Apr 20, 2018)
criteria provided, single submitterVCV000873877
47.
GRCh37:
Chr1:213032048
GRCh38:
Chr1:212858706
FLVCR1G85Anot providedUncertain significance
(Dec 17, 2019)
criteria provided, single submitterVCV000841285
48.
GRCh37:
Chr1:213032061
GRCh38:
Chr1:212858719
FLVCR1not specifiedUncertain significance
(Jul 17, 2017)
criteria provided, single submitterVCV000447350
49.
GRCh37:
Chr1:213032064
GRCh38:
Chr1:212858722
FLVCR1Posterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000873878
50.
GRCh37:
Chr1:213032073
GRCh38:
Chr1:212858731
FLVCR1not providedLikely benign
(Sep 8, 2020)
criteria provided, single submitterVCV001139163
51.
GRCh37:
Chr1:213032073
GRCh38:
Chr1:212858731
FLVCR1not providedLikely benign
(Mar 5, 2020)
criteria provided, single submitterVCV001119225
52.
GRCh37:
Chr1:213032088
GRCh38:
Chr1:212858746
FLVCR1not providedLikely benign
(Jun 6, 2018)
criteria provided, single submitterVCV000749172
53.
GRCh37:
Chr1:213032097
GRCh38:
Chr1:212858755
FLVCR1not providedLikely benign
(Jul 3, 2018)
criteria provided, single submitterVCV000756055
54.
GRCh37:
Chr1:213032100
GRCh38:
Chr1:212858758
FLVCR1not providedLikely benign
(Dec 28, 2019)
criteria provided, single submitterVCV001149959
55.
GRCh37:
Chr1:213032101
GRCh38:
Chr1:212858759
FLVCR1L103Fnot providedUncertain significance
(Dec 24, 2019)
criteria provided, single submitterVCV000848207
56.
GRCh37:
Chr1:213032116
GRCh38:
Chr1:212858774
FLVCR1F108Vnot providedUncertain significance
(Feb 7, 2020)
criteria provided, single submitterVCV001053646
57.
GRCh37:
Chr1:213032140
GRCh38:
Chr1:212858798
FLVCR1not providedConflicting interpretations of pathogenicity
(Oct 20, 2020)
criteria provided, conflicting interpretationsVCV000994878
58.
GRCh37:
Chr1:213032155
GRCh38:
Chr1:212858813
FLVCR1N121DPosterior column ataxia-retinitis pigmentosa syndrome, not providedPathogenic
(Dec 31, 2019)
criteria provided, single submitterVCV000018418
59.
GRCh37:
Chr1:213032156
GRCh38:
Chr1:212858814
FLVCR1N121Snot providedUncertain significance
(Aug 7, 2020)
criteria provided, single submitterVCV001004724
60.
GRCh37:
Chr1:213032158
GRCh38:
Chr1:212858816
FLVCR1A122Tnot specifiedUncertain significance
(Mar 14, 2017)
criteria provided, single submitterVCV000447351
61.
GRCh37:
Chr1:213032160
GRCh38:
Chr1:212858818
FLVCR1not providedLikely benign
(Jul 30, 2020)
criteria provided, single submitterVCV001150387
62.
GRCh37:
Chr1:213032163
GRCh38:
Chr1:212858821
FLVCR1F123Lnot providedUncertain significance
(Oct 7, 2020)
criteria provided, single submitterVCV000999892
63.
GRCh37:
Chr1:213032166
GRCh38:
Chr1:212858824
FLVCR1not providedLikely benign
(Sep 21, 2019)
criteria provided, single submitterVCV001124053
64.
GRCh37:
Chr1:213032179
GRCh38:
Chr1:212858837
FLVCR1S129GPosterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000295313
65.
GRCh37:
Chr1:213032185
GRCh38:
Chr1:212858843
FLVCR1I131Vnot providedUncertain significance
(Nov 10, 2017)
criteria provided, single submitterVCV000585879
66.
GRCh37:
Chr1:213032192
GRCh38:
Chr1:212858850
FLVCR1N133Tnot providedUncertain significance
(Sep 8, 2019)
criteria provided, single submitterVCV000936766
67.
GRCh37:
Chr1:213032270
GRCh38:
Chr1:212858928
FLVCR1P159Rnot providedUncertain significance
(Sep 12, 2019)
criteria provided, single submitterVCV000938073
68.
GRCh37:
Chr1:213032282
GRCh38:
Chr1:212858940
FLVCR1P163Lnot providedUncertain significance
(Jul 28, 2019)
criteria provided, multiple submitters, no conflictsVCV000585880
69.
GRCh37:
Chr1:213032295
GRCh38:
Chr1:212858953
FLVCR1not providedUncertain significance
(Jun 4, 2016)
criteria provided, single submitterVCV000287748
70.
GRCh37:
Chr1:213032319
GRCh38:
Chr1:212858977
FLVCR1not providedLikely benign
(Mar 30, 2018)
criteria provided, single submitterVCV000725857
71.
GRCh37:
Chr1:213032326
GRCh38:
Chr1:212858984
FLVCR1not providedLikely benign
(Jun 30, 2020)
criteria provided, single submitterVCV001127983
72.
GRCh37:
Chr1:213032328
GRCh38:
Chr1:212858986
FLVCR1Posterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000295314
73.
GRCh37:
Chr1:213032331
GRCh38:
Chr1:212858989
FLVCR1G180fsRetinal dystrophyLikely pathogenic
(Jun 25, 2019)
criteria provided, single submitterVCV000867175
74.
GRCh37:
Chr1:213032345
GRCh38:
Chr1:212859003
FLVCR1N184Tnot providedUncertain significance
(Oct 2, 2020)
criteria provided, single submitterVCV001061420
75.
GRCh37:
Chr1:213032348
GRCh38:
Chr1:212859006
FLVCR1C185Snot provided, Retinal dystrophyUncertain significance
(May 7, 2021)
criteria provided, multiple submitters, no conflictsVCV000867215
76.
GRCh37:
Chr1:213032357
GRCh38:
Chr1:212859015
FLVCR1A188Vnot providedUncertain significance
(Nov 20, 2019)
criteria provided, single submitterVCV000844017
77.
GRCh37:
Chr1:213032368
GRCh38:
Chr1:212859026
FLVCR1C192RPosterior column ataxia-retinitis pigmentosa syndromeLikely pathogenic
(Apr 8, 2021)
criteria provided, single submitterVCV000018420
78.
GRCh37:
Chr1:213032387
GRCh38:
Chr1:212859045
FLVCR1H198Rnot providedUncertain significance
(Mar 14, 2020)
criteria provided, single submitterVCV001039871
79.
GRCh37:
Chr1:213032389
GRCh38:
Chr1:212859047
FLVCR1L199Fnot specified, not provided, Posterior column ataxia-retinitis pigmentosa syndrome
Uncertain significance
(Mar 5, 2020)
criteria provided, multiple submitters, no conflictsVCV000295315
80.
GRCh37:
Chr1:213032405
GRCh38:
Chr1:212859063
FLVCR1M204RPosterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000295316
81.
GRCh37:
Chr1:213032436
GRCh38:
Chr1:212859094
FLVCR1Q214Hnot providedUncertain significance
(Jan 23, 2020)
criteria provided, single submitterVCV001055046
82.
GRCh37:
Chr1:213032457
GRCh38:
Chr1:212859115
FLVCR1not specified, not providedLikely benign
(Sep 5, 2020)
criteria provided, multiple submitters, no conflictsVCV000994879
83.
GRCh37:
Chr1:213032484
GRCh38:
Chr1:212859142
FLVCR1not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000794045
84.
GRCh37:
Chr1:213032486
GRCh38:
Chr1:212859144
FLVCR1P231Hnot providedUncertain significance
(Sep 17, 2019)
criteria provided, single submitterVCV000942250
85.
GRCh37:
Chr1:213032494
GRCh38:
Chr1:212859152
FLVCR1V234Lnot providedUncertain significance
(Aug 20, 2020)
criteria provided, single submitterVCV001055866
86.
GRCh37:
Chr1:213032498
GRCh38:
Chr1:212859156
FLVCR1S235YRetinal dystrophyUncertain significance
(May 15, 2018)
criteria provided, single submitterVCV000866952
87.
GRCh37:
Chr1:213032515
GRCh38:
Chr1:212859173
FLVCR1A241TPosterior column ataxia-retinitis pigmentosa syndromePathogenic
(Nov 12, 2010)
no assertion criteria providedVCV000018419
88.
GRCh37:
Chr1:213032524
GRCh38:
Chr1:212859182
FLVCR1G244SHereditary sensory and autonomic neuropathy, Retinitis pigmentosaLikely pathogenic
(Apr 23, 2020)
criteria provided, single submitterVCV000916537
89.
GRCh37:
Chr1:213032541
GRCh38:
Chr1:212859199
FLVCR1not specified, not provided, Posterior column ataxia-retinitis pigmentosa syndrome
Conflicting interpretations of pathogenicity
(Nov 16, 2020)
criteria provided, conflicting interpretationsVCV000295317
90.
GRCh37:
Chr1:213032542
GRCh38:
Chr1:212859200
FLVCR1not providedLikely benign
(Jul 8, 2020)
criteria provided, single submitterVCV001161258
91.
GRCh37:
Chr1:213037070
GRCh38:
Chr1:212863728
FLVCR1G248*not providedLikely pathogenic
(Oct 4, 2018)
criteria provided, single submitterVCV000620400
92.
GRCh37:
Chr1:213037082
GRCh38:
Chr1:212863740
FLVCR1G252fsPosterior column ataxia-retinitis pigmentosa syndrome, not providedPathogenic/Likely pathogenic
(Oct 23, 2020)
criteria provided, multiple submitters, no conflictsVCV000872563
93.
GRCh37:
Chr1:213037096
GRCh38:
Chr1:212863754
FLVCR1not providedLikely benign
(Dec 11, 2018)
criteria provided, single submitterVCV000748979
94.
GRCh37:
Chr1:213037107
GRCh38:
Chr1:212863765
FLVCR1V260APosterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000874829
95.
GRCh37:
Chr1:213037110
GRCh38:
Chr1:212863768
FLVCR1P261LPosterior column ataxia-retinitis pigmentosa syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000295318
96.
GRCh37:
Chr1:213037113
GRCh38:
Chr1:212863771
FLVCR1N262TShort Rib Polydactyly SyndromeLikely pathogenicno assertion criteria providedVCV000617856
97.
GRCh37:
Chr1:213037113
GRCh38:
Chr1:212863771
FLVCR1N262Snot providedUncertain significance
(Apr 16, 2018)
criteria provided, single submitterVCV000585881
98.
GRCh37:
Chr1:213037127
GRCh38:
Chr1:212863785
FLVCR1T267Anot providedUncertain significance
(Oct 25, 2017)
criteria provided, single submitterVCV000585882
99.
GRCh37:
Chr1:213037134
GRCh38:
Chr1:212863792
FLVCR1L269PRetinitis pigmentosaUncertain significance
(Apr 1, 2021)
criteria provided, single submitterVCV001297162
100.
GRCh37:
Chr1:213037147
GRCh38:
Chr1:212863805
FLVCR1not providedUncertain significance
(Oct 9, 2017)
criteria provided, single submitterVCV000585884
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