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Items: 19

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:164700803
GRCh38:
Chr3:164983015
SISucrase-isomaltase deficiencyGO-ESP:0.00154(C)
GMAF:0.00040(C)
Pathogenic
(Jan 1, 2006)
no assertion criteria provided
2.
GRCh37:
Chr3:164735409
GRCh38:
Chr3:165017621
SISucrase-isomaltase deficiencyPathogenic
(Jan 1, 2006)
no assertion criteria provided
3.
GRCh37:
Chr3:164737520
GRCh38:
Chr3:165019732
SISucrase-isomaltase deficiencyPathogenic
(Feb 1, 1996)
no assertion criteria provided
4.
GRCh37:
Chr3:164739053
GRCh38:
Chr3:165021265
SISucrase-isomaltase deficiencyGO-ESP:0.00177(T)Pathogenic
(Jan 1, 2006)
no assertion criteria provided
5.
GRCh37:
Chr3:164758793
GRCh38:
Chr3:165041005
SIMalignant tumor of prostateUncertain significanceno assertion criteria provided
6.
GRCh37:
Chr3:164764657
GRCh38:
Chr3:165046869
SISucrase-isomaltase deficiencyPathogenic
(Dec 1, 2003)
no assertion criteria provided
7.
GRCh37:
Chr3:164764786
GRCh38:
Chr3:165046998
SISucrase-isomaltase deficiencyGO-ESP:0.00100(C)
GMAF:0.00040(C)
Pathogenic
(Jan 1, 2006)
no assertion criteria provided
8.
GRCh37:
Chr3:164777814
GRCh38:
Chr3:165060026
SISucrase-isomaltase deficiencyPathogenic
(Jul 1, 2000)
no assertion criteria provided
9.
GRCh37:
Chr3:164786889
GRCh38:
Chr3:165069101
SISucrase-isomaltase deficiencyPathogenic
(Jun 29, 2001)
no assertion criteria provided
10.
GRCh37:
Chr3:155836230-197851986
GRCh38:
Chr3:156118441-198125115
ACTL6A, AHSG, APOD, BCHE, BCL6, BDH1, AP2M1, CLCN2, CPN2, CRYGS, DGKG, DLG1, DVL3, ECT2, EHHADH, EIF4A2, EIF4G1, EPHB3, ETV5, MECOM, FGF12, GHSR, GP5, HRG, HES1, IL1RAP, IL12A, KNG1, KPNA4, LPP, MELTF, MLF1, MUC4, NDUFB5, OPA1, CLDN11, PAK2, PCYT1A, SERPINI1, SERPINI2, PIK3CA, PLD1, POLR2H, PPP1R2, PRKCI, MASP1, PSMD2, PTX3, RARRES1, RFC4, SNORA63, RPL35A, TRA2B, SHOX2, SI, ST6GAL1, SKIL, SLC2A2, SOX2, SSR3, SST, TERC, TFRC, THPO, SEC62, KCNAB1, FXR1, TP63, CHRD, B3GALNT1, TNFSF10, EIF2B5, USP13, CLDN1, MAP3K13, ADIPOQ, RUBCN, ECE2, SMC4, ABCC5, TNK2, ALG3, KCNMB2, IGF2BP2, CLDN16, PDCD10, SLITRK3, NLGN1, NCBP2, TNIK, MCF2L2, ATP11B, VPS8, ACAP2, TIPARP, UBXN7, GPR160, FETUB, LAMP3, KCNMB3, GOLIM4, SCHIP1, NMD3, ZNF639, RSRC1, PEX5L, DNAJB11, DCUN1D1, KLHL24, PIGX, TBCCD1, P3H2, ABCF3, LSG1, PARL, MFN1, YEATS2, MYNN, EIF5A2, MCCC1, LXN, CCNL1, HRASLS, MRPL47, NCEH1, IFT80, SLC7A14, SENP2, GNB4, RTP4, MAGEF1, ZMAT3, MFSD1, FNDC3B, ATP13A3, VEPH1, TBL1XR1, ZBBX, LRRC31, MAP6D1, PHC3, ARL14, PIGZ, SPATA16, B3GNT5, IQCG, ATP13A4, FYTTD1, ACTRT3, MGC2889, LRCH3, CEP19, GFM1, LMLN, KLHL6, VWA5B2, TMEM41A, TMEM44, CAMK2N2, TM4SF19, RPL39L, DNAJC19, OTOL1, FAM131A, ZDHHC19, LRRC15, FAM43A, TMEM207, RTP1, TTC14, PPM1L, WDR49, LRRC34, MB21D2, XXYLT1, PQLC2L, CCDC50, PYDC2, NCBP2-AS2, SPTSSB, RNF168, HTR3C, LIPH, HTR3D, RPL22L1, SLC51A, FBXO45, MUC20, SENP5, LOC253573, NAALADL2, TCTEX1D2, SMCO1, UTS2B, HTR3E, C3orf70, TPRG1, LOC285389, TRIM59, CCDC39, LINC00880, EHHADH-AS1, LPP-AS2, LRRIQ4, SAMD7, RTP2, OSTN, ATP13A5, SOX2-OT, WDR53, NRROS, LEKR1, TMEM212, C3orf80, FLJ46066, FLJ42393, LINC00884, LINC00885, MIR15B, MIR16-2, MIR28, LINC00969, SNORD2, SNORA4, IGF2BP2-AS1, LINC01192, GMNC, LOC647323, IQCJ, SCARNA7, SNORA81, SNORD66, MIR551B, MIR569, MIR570, LINC00886, LINC01100, MIR922, MIR944, TNK2-AS1, LINC00887, LOC100131635, SNAR-I, MIR1224, TRV-AAC1-1, TIPARP-AS1, LOC100287290, MIR1248, MIR1263, RNU6-42P, MIR3137, LINC00881, MIR3919, IQCJ-SCHIP1, LINC01208, LINC00578, LOC100505609, LINC00888, LOC100505920, MFI2-AS1, DLG1-AS1, TMEM44-AS1, LOC100507391, LOC100507661, TM4SF19-TCTEX1D2, MIR4448, MIR4797, MIR4789, LINC00501, MIR5588, MIR548AQ, NAALADL2-AS3, LPP-AS1, OPA1-AS1, LMLN-AS1, ABCC5-AS1, FGF12-AS1, FGF12-AS3, NLGN1-AS1, KLHL6-AS1, TPRG1-AS2, UBXN7-AS1, TPRG1-AS1, EIF2B5-AS1, KCNAB1-AS2, KCNAB1-AS1, ADIPOQ-AS1, TM4SF19-AS1, ATP13A5-AS1, TMEM212-AS1, NAALADL2-AS2, NAALADL2-AS1, LINC01014, IQCJ-SCHIP1-AS1, XXYLT1-AS1, LOC100996447, LINC01206, LOC101243545, XXYLT1-AS2, IL12A-AS1, LOC101928583, LINC01209, LOC101928739, PEX5L-AS2, LOC101928882, LOC101928992, LOC101929106, LOC101929130, P3H2-AS1, ATP13A4-AS1, LOC101929337, LOC101929697, LINC01063, MIR6828, MIR7977, MIR6829, TUBB8P8, KCCAT211, LOC102724604, LOC102724699, LINCR-0002, LINC01322, LINC01327, LINC01324, KCNMB2-AS1, LOC105374177, LOC105374194, LOC105374205, LOC105374244, LOC105374250, LOC105374266, LOC105374297, HTR3E-AS1, OSTN-AS1
See casesPathogenic
(Mar 18, 2014)
no assertion criteria provided
11.
GRCh37:
Chr3:156039667-197840323
GRCh38:
Chr3:156321878-198113452
ACTL6A, AHSG, APOD, BCHE, BCL6, BDH1, AP2M1, CLCN2, CPN2, CRYGS, DGKG, DLG1, DVL3, ECT2, EHHADH, EIF4A2, EIF4G1, EPHB3, ETV5, MECOM, FGF12, GHSR, GP5, HRG, HES1, IL1RAP, IL12A, KNG1, KPNA4, LPP, MELTF, MLF1, MUC4, NDUFB5, OPA1, CLDN11, PAK2, PCYT1A, SERPINI1, SERPINI2, PIK3CA, PLD1, POLR2H, PPP1R2, PRKCI, MASP1, PSMD2, PTX3, RARRES1, RFC4, SNORA63, RPL35A, TRA2B, SHOX2, SI, ST6GAL1, SKIL, SLC2A2, SOX2, SSR3, SST, TERC, TFRC, THPO, SEC62, KCNAB1, FXR1, TP63, CHRD, B3GALNT1, TNFSF10, EIF2B5, USP13, CLDN1, MAP3K13, ADIPOQ, RUBCN, ECE2, SMC4, ABCC5, TNK2, ALG3, KCNMB2, IGF2BP2, CLDN16, PDCD10, SLITRK3, NLGN1, NCBP2, TNIK, MCF2L2, ATP11B, VPS8, ACAP2, TIPARP, UBXN7, GPR160, FETUB, LAMP3, KCNMB3, GOLIM4, SCHIP1, NMD3, ZNF639, RSRC1, PEX5L, DNAJB11, DCUN1D1, KLHL24, PIGX, TBCCD1, P3H2, ABCF3, LSG1, PARL, MFN1, YEATS2, MYNN, EIF5A2, MCCC1, LXN, CCNL1, HRASLS, MRPL47, NCEH1, IFT80, SLC7A14, SENP2, GNB4, RTP4, MAGEF1, ZMAT3, MFSD1, FNDC3B, ATP13A3, VEPH1, TBL1XR1, ZBBX, LRRC31, MAP6D1, PHC3, ARL14, PIGZ, SPATA16, B3GNT5, IQCG, ATP13A4, FYTTD1, ACTRT3, MGC2889, LRCH3, CEP19, GFM1, LMLN, KLHL6, VWA5B2, TMEM41A, TMEM44, CAMK2N2, TM4SF19, RPL39L, DNAJC19, OTOL1, FAM131A, ZDHHC19, LRRC15, FAM43A, TMEM207, RTP1, TTC14, PPM1L, WDR49, LRRC34, MB21D2, XXYLT1, PQLC2L, CCDC50, PYDC2, NCBP2-AS2, SPTSSB, RNF168, HTR3C, LIPH, HTR3D, RPL22L1, SLC51A, FBXO45, MUC20, SENP5, LOC253573, NAALADL2, TCTEX1D2, SMCO1, UTS2B, HTR3E, C3orf70, TPRG1, LOC285389, TRIM59, CCDC39, LINC00880, EHHADH-AS1, LPP-AS2, LRRIQ4, SAMD7, RTP2, OSTN, ATP13A5, SOX2-OT, WDR53, NRROS, LEKR1, TMEM212, C3orf80, FLJ46066, FLJ42393, LINC00884, LINC00885, MIR15B, MIR16-2, MIR28, LINC00969, SNORD2, SNORA4, IGF2BP2-AS1, LINC01192, GMNC, LOC647323, IQCJ, SCARNA7, SNORA81, SNORD66, MIR551B, MIR569, MIR570, LINC00886, LINC01100, MIR922, MIR944, TNK2-AS1, LINC00887, LOC100131635, SNAR-I, MIR1224, TRV-AAC1-1, TIPARP-AS1, LOC100287290, MIR1248, MIR1263, RNU6-42P, MIR3137, LINC00881, MIR3919, IQCJ-SCHIP1, LINC01208, LINC00578, LOC100505609, LINC00888, LOC100505920, MFI2-AS1, DLG1-AS1, TMEM44-AS1, LOC100507391, LOC100507661, TM4SF19-TCTEX1D2, MIR4448, MIR4797, MIR4789, LINC00501, MIR5588, MIR548AQ, NAALADL2-AS3, LPP-AS1, OPA1-AS1, LMLN-AS1, ABCC5-AS1, FGF12-AS1, FGF12-AS3, NLGN1-AS1, KLHL6-AS1, TPRG1-AS2, UBXN7-AS1, TPRG1-AS1, EIF2B5-AS1, KCNAB1-AS1, ADIPOQ-AS1, TM4SF19-AS1, ATP13A5-AS1, TMEM212-AS1, NAALADL2-AS2, NAALADL2-AS1, LINC01014, IQCJ-SCHIP1-AS1, XXYLT1-AS1, LOC100996447, LINC01206, LOC101243545, XXYLT1-AS2, IL12A-AS1, LOC101928583, LINC01209, LOC101928739, PEX5L-AS2, LOC101928882, LOC101928992, LOC101929106, LOC101929130, P3H2-AS1, ATP13A4-AS1, LOC101929337, LOC101929697, LINC01063, MIR6828, MIR7977, MIR6829, KCCAT211, LOC102724604, LOC102724699, LINCR-0002, LINC01322, LINC01327, LINC01324, KCNMB2-AS1, LOC105374177, LOC105374194, LOC105374205, LOC105374244, LOC105374250, LOC105374266, LOC105374297, HTR3E-AS1, OSTN-AS1
See casesPathogenic
(Jan 14, 2013)
no assertion criteria provided
12.
GRCh37:
Chr3:151818301-197845254
GRCh38:
Chr3:152100512-198118383
ACTL6A, AHSG, APOD, BCHE, BCL6, BDH1, AP2M1, CLCN2, CPN2, CRYGS, DGKG, DLG1, DVL3, ECT2, EHHADH, EIF4A2, EIF4G1, EPHB3, ETV5, MECOM, FGF12, GHSR, GP5, HRG, HES1, IL1RAP, IL12A, KNG1, KPNA4, LPP, MBNL1, MELTF, MLF1, MME, MUC4, NDUFB5, OPA1, CLDN11, P2RY1, PAK2, PCYT1A, SERPINI1, SERPINI2, PIK3CA, PLD1, POLR2H, PPP1R2, PRKCI, MASP1, PSMD2, PTX3, RAP2B, RARRES1, RFC4, SNORA63, RPL35A, TRA2B, SHOX2, SI, ST6GAL1, SKIL, SLC2A2, SOX2, SSR3, SST, TERC, TFRC, THPO, SEC62, KCNAB1, FXR1, TP63, CHRD, B3GALNT1, TNFSF10, GMPS, EIF2B5, USP13, CLDN1, MAP3K13, SLC33A1, ADIPOQ, RUBCN, ECE2, SMC4, ABCC5, TNK2, ALG3, KCNMB2, IGF2BP2, CLDN16, PDCD10, SLITRK3, NLGN1, NCBP2, PLCH1, TNIK, MCF2L2, ATP11B, VPS8, ACAP2, TIPARP, UBXN7, ARHGEF26, GPR160, FETUB, LAMP3, KCNMB3, GOLIM4, SCHIP1, NMD3, ZNF639, RSRC1, PEX5L, DNAJB11, DCUN1D1, KLHL24, PIGX, TBCCD1, P3H2, ABCF3, LSG1, PARL, MFN1, YEATS2, MYNN, EIF5A2, MCCC1, LXN, CCNL1, HRASLS, MRPL47, NCEH1, IFT80, SLC7A14, SENP2, GNB4, RTP4, MAGEF1, ZMAT3, MFSD1, FNDC3B, ATP13A3, VEPH1, TBL1XR1, ZBBX, LRRC31, MAP6D1, PHC3, ARL14, PIGZ, SPATA16, B3GNT5, IQCG, ATP13A4, FYTTD1, ACTRT3, MGC2889, LRCH3, CEP19, GFM1, LMLN, KLHL6, VWA5B2, TMEM41A, TMEM44, CAMK2N2, TM4SF19, RPL39L, DNAJC19, OTOL1, FAM131A, ZDHHC19, LRRC15, FAM43A, TMEM207, RTP1, TTC14, PPM1L, WDR49, LRRC34, MB21D2, XXYLT1, PQLC2L, C3orf79, CCDC50, PYDC2, NCBP2-AS2, SPTSSB, RNF168, DHX36, HTR3C, LIPH, HTR3D, RPL22L1, SLC51A, FBXO45, MUC20, SENP5, LOC253573, NAALADL2, TCTEX1D2, SMCO1, UTS2B, HTR3E, PABPC1P10, C3orf33, C3orf70, TPRG1, LOC285389, TRIM59, CCDC39, LINC00880, EHHADH-AS1, LPP-AS2, LRRIQ4, SAMD7, GPR149, RTP2, OSTN, ATP13A5, SOX2-OT, WDR53, NRROS, LEKR1, TMEM212, MBNL1-AS1, C3orf80, FLJ46066, FLJ42393, LINC00884, LINC00885, MIR15B, MIR16-2, MIR28, LINC00969, SNORD2, SNORA4, TMEM14E, IGF2BP2-AS1, LINC01192, GMNC, LOC647323, IQCJ, SCARNA7, SNORA81, SNORD66, MIR551B, MIR569, MIR570, LINC00886, LINC01100, MIR922, MIR944, TNK2-AS1, LINC00887, LOC100131635, SNAR-I, MIR1224, TRV-AAC1-1, TIPARP-AS1, LOC100287290, MIR1248, MIR1263, RNU6-42P, MIR3137, LINC00881, MIR3919, IQCJ-SCHIP1, LINC01208, LINC00578, LOC100505609, LINC00888, LOC100505920, MFI2-AS1, DLG1-AS1, TMEM44-AS1, LOC100507391, ARHGEF26-AS1, LOC100507537, LOC100507661, TM4SF19-TCTEX1D2, MIR4448, MIR4797, MIR4789, LINC00501, MIR5588, MIR548AQ, NAALADL2-AS3, LPP-AS1, OPA1-AS1, LMLN-AS1, ABCC5-AS1, FGF12-AS1, FGF12-AS3, NLGN1-AS1, KLHL6-AS1, TPRG1-AS2, UBXN7-AS1, PLCH1-AS1, PLCH1-AS2, TPRG1-AS1, EIF2B5-AS1, KCNAB1-AS2, KCNAB1-AS1, ADIPOQ-AS1, TM4SF19-AS1, ATP13A5-AS1, TMEM212-AS1, NAALADL2-AS2, NAALADL2-AS1, LINC01014, IQCJ-SCHIP1-AS1, XXYLT1-AS1, LOC100996447, LINC01206, LOC101243545, XXYLT1-AS2, LOC101928166, LINC01487, IL12A-AS1, LOC101928583, LINC01209, LOC101928739, PEX5L-AS2, LOC101928882, LOC101928992, LOC101929106, LOC101929130, P3H2-AS1, ATP13A4-AS1, LOC101929337, LOC101929697, LINC01063, MIR6828, MIR7977, MIR6829, KCCAT211, LOC102724604, LOC102724699, LINCR-0002, LINC01322, LINC01327, LINC01324, KCNMB2-AS1, LOC105374177, LOC105374194, LOC105374205, LOC105374244, LOC105374250, LOC105374266, LOC105374297, HTR3E-AS1, OSTN-AS1
See casesPathogenic
(Jun 18, 2012)
no assertion criteria provided
13.
GRCh37:
Chr3:161623097-164725782
GRCh38:
Chr3:161905309-165007994
SI, LINC01192, MIR1263, LINC01324See casesUncertain significance
(Feb 25, 2011)
no assertion criteria provided
14.
GRCh37:
Chr3:103145726-197837049
GRCh38:
Chr3:103426882-198110178
AADAC, ACPP, ACTL6A, ADCY5, ADPRH, AGTR1, AHSG, ALCAM, APOD, ATP1B3, ATP6V1A, ATR, BCHE, BCL6, BDH1, FOXL2, CASR, CBLB, CD80, CD86, CD47, AP2M1, CLCN2, CP, CPA3, CPB1, CPN2, CRYGS, CSTA, DGKG, DLG1, DRD3, DVL3, ECT2, EHHADH, EIF4A2, EIF4G1, EPHB1, EPHB3, ETV5, MECOM, FGF12, GAP43, GATA2, GHSR, GOLGB1, GP5, GP9, GSK3B, GTF2E1, GYG1, HCLS1, HGD, HRG, HES1, IL1RAP, IL12A, ITGB5, KNG1, KPNA1, KPNA4, LPP, LSAMP, TM4SF1, MBNL1, MCM2, MELTF, MLF1, MME, CD200, MUC4, MYLK, NCK1, NDUFB4, NDUFB5, OPA1, CLDN11, P2RY1, PAK2, PCCB, PCYT1A, PFN2, SERPINI1, SERPINI2, PIK3CA, PIK3CB, PLD1, PLOD2, PLS1, PLSCR1, PLXNA1, POLR2H, PPP1R2, PPP2R3A, PRKCI, MASP1, PSMD2, PTX3, RAP2B, RARRES1, RASA2, RBP1, RBP2, RFC4, RHO, SNORA63, RPL35A, RPN1, RYK, TRA2B, SHOX2, SI, SIAH2, ST6GAL1, SKIL, SLC2A2, SLC15A2, SLCO2A1, HLTF, SOX2, SSR3, SST, TERC, TF, TFDP2, TFRC, THPO, SEC62, TM4SF4, TRH, TRPC1, UPK1B, UMPS, CLRN1, ZIC1, CNBP, ZNF80, ZNF148, RAB7A, KCNAB1, FXR1, SOX14, BFSP2, RUVBL1, TP63, CHRD, B4GALT4, B3GALNT1, SNX4, TNFSF10, GMPS, NR1I2, EIF2B5, MBD4, H1FX, USP13, KALRN, CLDN1, MAP3K13, SLC33A1, COPB2, ADIPOQ, CHST2, STXBP5L, RNF7, GUCA1C, IQCB1, DZIP3, RUBCN, ECE2, TSC22D2, P2RY14, SMC4, ABCC5, COX17, TNK2, ALG3, CD96, KCNMB2, STAG1, IGF2BP2, CLDN16, POLQ, ALDH1L1, PDIA5, TOPBP1, HHLA2, FSTL1, MRPL3, PDCD10, RNF13, MGLL, MRAS, COPG1, SLITRK3, NLGN1, NCBP2, MYH15, PLCH1, TMCC1, TNIK, MCF2L2, PLXND1, ATP11B, DNAJC13, U2SURP, VPS8, LINC01565, ACAP2, ANAPC13, ARMC8, NEPRO, WWTR1, NECTIN3, TIPARP, UBXN7, ARHGEF26, ZBTB20, FAM162A, PCOLCE2, SEC22A, GPR160, FETUB, NPHP3, ATP2C1, LAMP3, KCNMB3, MORC1, SERP1, GOLIM4, ACAD9, ASTE1, KLF15, GTPBP8, TAGLN3, GPR171, SEC61A1, SCHIP1, PIK3R4, PODXL2, TRAT1, NMD3, COMMD2, A4GNT, DBR1, ZNF639, CLDN18, TIMMDC1, RSRC1, PLA1A, AMOTL2, ACKR4, PEX5L, RAB6B, SELT, FBXO40, DNAJB11, P2RY13, IL20RB, GPR87, DCUN1D1, SEMA5B, XRN1, WDR5B, PARP14, GRAMD1C, ROPN1, KLHL24, SIDT1, SLC41A3, PIGX, SLC35A5, IFT57, MSL2, TBCCD1, FAIM, SLC25A36, DPPA4, P3H2, TMEM39A, ABCF3, LSG1, ABHD10, PARL, CDV3, MFN1, YEATS2, IFT122, CFAP44, EAF2, MYNN, EIF5A2, MUC13, SUCNR1, MCCC1, LXN, HMCES, MRPS22, POGLUT1, BBX, CCNL1, PLSCR2, PLSCR4, HRASLS, MRPL47, ISY1, HEG1, KIAA1257, ARHGAP31, NCEH1, IFT80, CCDC191, KIAA1524, SLC7A14, SRPRB, SENP2, GNB4, BPESC1, EEFSEC, CLSTN2, POPDC2, RTP4, MAGEF1, ZMAT3, ATG3, MFSD1, CCDC14, FNDC3B, P2RY12, TMEM108, ZXDC, ZBED2, ATP13A3, HSPBAP1, C3orf52, VEPH1, QTRT2, TBL1XR1, ZBBX, LRRC31, EFCC1, NEK11, UBA5, MAP6D1, PHC3, C3orf36, ARL14, NAA50, PIGZ, CEP63, CEP70, ABTB1, SLC35G2, PARP9, ESYT3, SPATA16, EIF2A, B3GNT5, ZIC4, ACAD11, IQCG, ATP13A4, FYTTD1, CHCHD6, HPS3, ACTRT3, SLC12A8, RETNLB, CCDC54, MGC2889, LRCH3, DIRC2, CEP19, BFSP2-AS1, GFM1, LMLN, KLHL6, MAATS1, PHLDB2, VWA5B2, LOC90246, EFCAB12, TMEM41A, BOC, SPSB4, PXYLP1, TMEM44, CAMK2N2, TXNRD3, OSBPL11, LRRC58, TM4SF19, TM4SF18, RPL39L, MED12L, CPNE4, CCDC58, DNAJC19, OTOL1, FAM131A, CD200R1, ZDHHC19, LRRC15, FAM43A, TPRA1, UROC1, ERICH6, NUDT16, COL6A6, GRK7, TMEM207, RTP1, H1FOO, PISRT1, TTC14, DTX3L, LINC00635, PPM1L, WDR49, LRRC34, DPPA2, CCDC80, BTLA, MB21D2, XXYLT1, ROPN1B, C3orf22, PQLC2L, C3orf79, CCDC50, PYDC2, SPICE1, NCBP2-AS2, IGSF11, C3orf30, PARP15, SPTSSB, DNAJB8, GPR156, RNF168, CHST13, KBTBD12, DHX36, HTR3C, DZIP1L, ALG1L, LIPH, HTR3D, RPL22L1, SLC51A, FBXO45, MUC20, HACD2, TIGIT, C3orf58, SENP5, USF3, ZBTB38, LOC253573, NAALADL2, ZDHHC23, TCTEX1D2, SMCO1, COL6A5, GK5, PLCXD2, GCSAM, UTS2B, TUSC7, SLC9A9, LINC00636, DNAJB8-AS1, HTR3E, RABL3, C3orf56, IGSF10, PABPC1P10, C3orf33, SLC9C1, C3orf70, TPRG1, LOC285389, ILDR1, TRIM59, TRIM42, RAB43, CCDC39, KY, LOC339874, LINC00880, EHHADH-AS1, LPP-AS2, H1FX-AS1, DUBR, LRRIQ4, SAMD7, AADACL2, GPR149, TMPRSS7, CD200R1L, PAQR9, RTP2, OSTN, ATP13A5, SOX2-OT, NME9, WDR53, CFAP100, NPHP3-AS1, NMNAT3, NRROS, PRR23B, PRR23C, PLSCR5, ANKUB1, LEKR1, TMEM212, FLJ22763, LINC01205, FOXL2NB, MBNL1-AS1, C3orf80, FLJ46066, FLJ42393, LINC00884, LINC00885, MIR15B, MIR16-2, MIR198, MIR28, LOC440982, LINC00969, ARGFX, SNORD2, SNORA4, ALG1L2, TXNRD3NB, TMEM14E, COL6A4P2, IGF2BP2-AS1, LOC646730, LOC646903, FAM188B2, LINC01192, GMNC, LOC647323, TMEM183B, IQCJ, SCARNA7, LINC00488, SNORA7B, SNORA58, SNORA81, SNORD66, MIR551B, MIR567, MIR568, MIR569, MIR570, PRR23A, LINC00886, LINC01100, MIR922, MIR944, WWTR1-AS1, TNK2-AS1, LOC100129550, ZBTB20-AS1, LINC00887, LOC100131635, SNAR-I, MIR1224, TRC-GCA6-1, TRC-GCA9-1, TRV-AAC1-1, TIPARP-AS1, LOC100287290, LOC100289361, MIR1248, MIR1263, MIR548I1, LINC00882, RNU6-42P, MIR544B, MIR3137, LINC00881, MIR3919, IQCJ-SCHIP1, LINC01208, LINC00578, LOC100505609, LINC00888, LOC100505920, PVRL3-AS1, LINC01279, LINC00901, IGSF11-AS1, MYLK-AS1, CCDC37-AS1, TMCC1-AS1, MFI2-AS1, DLG1-AS1, LOC100507210, LINC01210, LOC100507291, TMEM44-AS1, LOC100507389, LOC100507391, LOC100507461, ARHGEF26-AS1, LOC100507537, LOC100507661, NPHP3-ACAD11, ISY1-RAB43, TM4SF19-TCTEX1D2, MIR4448, MIR4445, MIR4796, MIR4797, MIR4788, MIR548AB, MIR4789, MIR4446, MIR4447, LINC00501, MIR5002, MIR5186, MIR5092, MIR5704, MIR5682, MIR5588, MIR548AQ, ALDH1L1-AS2, NAALADL2-AS3, LPP-AS1, MYLK-AS2, OPA1-AS1, HLTF-AS1, LMLN-AS1, ABCC5-AS1, FGF12-AS1, FGF12-AS3, NLGN1-AS1, KLHL6-AS1, TPRG1-AS2, CFAP44-AS1, UBXN7-AS1, PLCH1-AS1, PLCH1-AS2, TPRG1-AS1, EIF2B5-AS1, KCNAB1-AS2, KCNAB1-AS1, RUVBL1-AS1, TM4SF1-AS1, ADIPOQ-AS1, PLCXD2-AS1, ZBTB20-AS4, B4GALT4-AS1, ALDH1L1-AS1, TM4SF19-AS1, ATP13A5-AS1, TMEM212-AS1, NAALADL2-AS2, NAALADL2-AS1, ARHGAP31-AS1, LINC01014, IQCJ-SCHIP1-AS1, XXYLT1-AS1, SLC9A9-AS1, LOC100996447, LINC01206, LOC101243545, XXYLT1-AS2, LSAMP-AS1, LOC101926968, LOC101926983, LOC101927056, LOC101927123, LINC01471, GATA2-AS1, TMEM108-AS1, NCK1-AS1, CLSTN2-AS1, PAQR9-AS1, LOC101927866, LINC01213, LINC01214, ERICH6-AS1, LOC101928105, AADACL2-AS1, LOC101928166, LINC01487, IL12A-AS1, LOC101928583, LINC01209, LOC101928739, PEX5L-AS2, LOC101928882, LOC101928992, LOC101929106, LOC101929130, P3H2-AS1, ATP13A4-AS1, LOC101929337, LOC101929579, LOC101929607, LINC01215, LOC101929694, LOC101929697, LOC101929717, LOC101929754, LINC01063, MIR6083, MIR6826, MIR6828, MIR7110, MIR7976, MIR7977, MIR6829, MIR6825, MIR8076, MIR6827, LOC102723582, KCCAT211, LOC102724604, LOC102724699, LINCR-0002, LINC01391, LINC01322, LINC01327, LINC01324, ZBTB20-AS3, KCNMB2-AS1, LOC105374060, LOC105374177, LOC105374194, LOC105374205, LOC105374244, LOC105374250, LOC105374266, LOC105374297, LOC105374312, LOC105374313, HTR3E-AS1, OSTN-AS1
See casesPathogenic
(Jan 24, 2011)
no assertion criteria provided
15.
GRCh37:
Chr3:157859345-172506114
GRCh38:
Chr3:158141556-172788324
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
16.
GRCh37:
Chr3:157011167-197861598
GRCh38:
Chr3:157293378-198134727
ACTL6A, AHSG, APOD, BCHE, BCL6, BDH1, AP2M1, CLCN2, CPN2, CRYGS, DGKG, DLG1, DVL3, ECT2, EHHADH, EIF4A2, EIF4G1, EPHB3, ETV5, MECOM, FGF12, GHSR, GP5, HRG, HES1, IL1RAP, IL12A, KNG1, KPNA4, LPP, MELTF, MLF1, MUC4, NDUFB5, OPA1, CLDN11, PAK2, PCYT1A, SERPINI1, SERPINI2, PIK3CA, PLD1, POLR2H, PPP1R2, PRKCI, MASP1, PSMD2, PTX3, RARRES1, RFC4, SNORA63, RPL35A, TRA2B, SHOX2, SI, ST6GAL1, SKIL, SLC2A2, SOX2, SST, TERC, TFRC, THPO, SEC62, FXR1, TP63, CHRD, B3GALNT1, TNFSF10, EIF2B5, USP13, CLDN1, MAP3K13, ADIPOQ, RUBCN, ECE2, SMC4, ABCC5, TNK2, ALG3, KCNMB2, IGF2BP2, CLDN16, PDCD10, SLITRK3, NLGN1, NCBP2, TNIK, MCF2L2, ATP11B, VPS8, ACAP2, UBXN7, GPR160, FETUB, LAMP3, KCNMB3, GOLIM4, SCHIP1, NMD3, ZNF639, RSRC1, PEX5L, DNAJB11, DCUN1D1, KLHL24, PIGX, TBCCD1, P3H2, ABCF3, LSG1, PARL, MFN1, YEATS2, MYNN, EIF5A2, MCCC1, LXN, HRASLS, MRPL47, NCEH1, IFT80, SLC7A14, SENP2, GNB4, RTP4, MAGEF1, ZMAT3, MFSD1, FNDC3B, ATP13A3, VEPH1, TBL1XR1, ZBBX, LRRC31, MAP6D1, PHC3, ARL14, PIGZ, SPATA16, B3GNT5, IQCG, ATP13A4, FYTTD1, ACTRT3, MGC2889, LRCH3, CEP19, GFM1, LMLN, KLHL6, VWA5B2, TMEM41A, TMEM44, CAMK2N2, TM4SF19, RPL39L, DNAJC19, OTOL1, FAM131A, ZDHHC19, LRRC15, FAM43A, TMEM207, RTP1, TTC14, PPM1L, WDR49, LRRC34, MB21D2, XXYLT1, PQLC2L, CCDC50, PYDC2, NCBP2-AS2, SPTSSB, RNF168, HTR3C, LIPH, HTR3D, RPL22L1, SLC51A, FBXO45, MUC20, SENP5, LOC253573, NAALADL2, TCTEX1D2, SMCO1, UTS2B, HTR3E, C3orf70, TPRG1, LOC285389, TRIM59, CCDC39, EHHADH-AS1, LPP-AS2, LRRIQ4, SAMD7, RTP2, OSTN, ATP13A5, SOX2-OT, WDR53, NRROS, TMEM212, C3orf80, FLJ46066, FLJ42393, LINC00884, LINC00885, MIR15B, MIR16-2, MIR28, LINC00969, SNORD2, SNORA4, IGF2BP2-AS1, LINC01192, GMNC, LOC647323, IQCJ, SCARNA7, SNORA81, SNORD66, MIR551B, MIR569, MIR570, LINC01100, MIR922, MIR944, TNK2-AS1, LINC00887, LOC100131635, SNAR-I, MIR1224, TRV-AAC1-1, LOC100287290, MIR1248, MIR1263, RNU6-42P, MIR3137, MIR3919, IQCJ-SCHIP1, LINC01208, LINC00578, LOC100505609, LINC00888, LOC100505920, MFI2-AS1, DLG1-AS1, TMEM44-AS1, LOC100507391, LOC100507661, TM4SF19-TCTEX1D2, MIR4448, MIR4797, MIR4789, LINC00501, MIR5588, MIR548AQ, NAALADL2-AS3, LPP-AS1, OPA1-AS1, LMLN-AS1, ABCC5-AS1, FGF12-AS1, FGF12-AS3, NLGN1-AS1, KLHL6-AS1, TPRG1-AS2, UBXN7-AS1, TPRG1-AS1, EIF2B5-AS1, ADIPOQ-AS1, TM4SF19-AS1, ATP13A5-AS1, TMEM212-AS1, NAALADL2-AS2, NAALADL2-AS1, LINC01014, IQCJ-SCHIP1-AS1, XXYLT1-AS1, LOC100996447, LINC01206, LOC101243545, XXYLT1-AS2, IL12A-AS1, LOC101928583, LINC01209, LOC101928739, PEX5L-AS2, LOC101928882, LOC101928992, LOC101929106, LOC101929130, P3H2-AS1, ATP13A4-AS1, LOC101929337, LOC101929697, LINC01063, MIR6828, MIR7977, MIR6829, TUBB8P8, KCCAT211, LOC102724604, LOC102724699, LINCR-0002, LINC01322, LINC01327, LINC01324, KCNMB2-AS1, LOC105374194, LOC105374205, LOC105374244, LOC105374250, LOC105374266, LOC105374297, HTR3E-AS1, OSTN-AS1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
17.
GRCh37:
Chr3:147239679-197823436
GRCh38:
Chr3:147521892-198096565
AADAC, ACTL6A, AGTR1, AHSG, APOD, BCHE, BCL6, BDH1, AP2M1, CLCN2, CP, CPA3, CPB1, CPN2, CRYGS, DGKG, DLG1, DVL3, ECT2, EHHADH, EIF4A2, EIF4G1, EPHB3, ETV5, MECOM, FGF12, GHSR, GP5, GYG1, HRG, HES1, IL1RAP, IL12A, KNG1, KPNA4, LPP, TM4SF1, MBNL1, MELTF, MLF1, MME, MUC4, NDUFB5, OPA1, CLDN11, P2RY1, PAK2, PCYT1A, PFN2, SERPINI1, SERPINI2, PIK3CA, PLD1, POLR2H, PPP1R2, PRKCI, MASP1, PSMD2, PTX3, RAP2B, RARRES1, RFC4, SNORA63, RPL35A, TRA2B, SHOX2, SI, SIAH2, ST6GAL1, SKIL, SLC2A2, HLTF, SOX2, SSR3, SST, TERC, TFRC, THPO, SEC62, TM4SF4, CLRN1, KCNAB1, FXR1, TP63, CHRD, B3GALNT1, TNFSF10, GMPS, EIF2B5, USP13, CLDN1, MAP3K13, SLC33A1, ADIPOQ, RUBCN, ECE2, TSC22D2, P2RY14, SMC4, ABCC5, TNK2, ALG3, KCNMB2, IGF2BP2, CLDN16, PDCD10, RNF13, SLITRK3, NLGN1, NCBP2, PLCH1, TNIK, MCF2L2, ATP11B, VPS8, ACAP2, WWTR1, TIPARP, UBXN7, ARHGEF26, GPR160, FETUB, LAMP3, KCNMB3, SERP1, GOLIM4, GPR171, SCHIP1, NMD3, COMMD2, ZNF639, RSRC1, PEX5L, SELT, DNAJB11, P2RY13, GPR87, DCUN1D1, KLHL24, PIGX, TBCCD1, P3H2, ABCF3, LSG1, PARL, MFN1, YEATS2, MYNN, EIF5A2, SUCNR1, MCCC1, LXN, CCNL1, HRASLS, MRPL47, NCEH1, IFT80, SLC7A14, SENP2, GNB4, RTP4, MAGEF1, ZMAT3, MFSD1, FNDC3B, P2RY12, ATP13A3, VEPH1, TBL1XR1, ZBBX, LRRC31, MAP6D1, PHC3, ARL14, PIGZ, SPATA16, EIF2A, B3GNT5, IQCG, ATP13A4, FYTTD1, HPS3, ACTRT3, MGC2889, LRCH3, CEP19, GFM1, LMLN, KLHL6, VWA5B2, TMEM41A, TMEM44, CAMK2N2, TM4SF19, TM4SF18, RPL39L, MED12L, DNAJC19, OTOL1, FAM131A, ZDHHC19, LRRC15, FAM43A, ERICH6, TMEM207, RTP1, TTC14, PPM1L, WDR49, LRRC34, MB21D2, XXYLT1, PQLC2L, C3orf79, CCDC50, PYDC2, NCBP2-AS2, SPTSSB, RNF168, DHX36, HTR3C, LIPH, HTR3D, RPL22L1, SLC51A, FBXO45, MUC20, SENP5, LOC253573, NAALADL2, TCTEX1D2, SMCO1, UTS2B, HTR3E, IGSF10, PABPC1P10, C3orf33, C3orf70, TPRG1, LOC285389, TRIM59, CCDC39, LINC00880, EHHADH-AS1, LPP-AS2, LRRIQ4, SAMD7, AADACL2, GPR149, RTP2, OSTN, ATP13A5, SOX2-OT, WDR53, NRROS, ANKUB1, LEKR1, TMEM212, MBNL1-AS1, C3orf80, FLJ46066, FLJ42393, LINC00884, LINC00885, MIR15B, MIR16-2, MIR28, LINC00969, SNORD2, SNORA4, TMEM14E, IGF2BP2-AS1, LOC646903, FAM188B2, LINC01192, GMNC, LOC647323, TMEM183B, IQCJ, SCARNA7, SNORA81, SNORD66, MIR551B, MIR569, MIR570, LINC00886, LINC01100, MIR922, MIR944, WWTR1-AS1, TNK2-AS1, LINC00887, LOC100131635, SNAR-I, MIR1224, TRV-AAC1-1, TIPARP-AS1, LOC100287290, MIR1248, MIR1263, RNU6-42P, MIR3137, LINC00881, MIR3919, IQCJ-SCHIP1, LINC01208, LINC00578, LOC100505609, LINC00888, LOC100505920, MFI2-AS1, DLG1-AS1, TMEM44-AS1, LOC100507391, LOC100507461, ARHGEF26-AS1, LOC100507537, LOC100507661, TM4SF19-TCTEX1D2, MIR4448, MIR4797, MIR4789, LINC00501, MIR5186, MIR5588, MIR548AQ, NAALADL2-AS3, LPP-AS1, OPA1-AS1, HLTF-AS1, LMLN-AS1, ABCC5-AS1, FGF12-AS1, FGF12-AS3, NLGN1-AS1, KLHL6-AS1, TPRG1-AS2, UBXN7-AS1, PLCH1-AS1, PLCH1-AS2, TPRG1-AS1, EIF2B5-AS1, KCNAB1-AS2, KCNAB1-AS1, TM4SF1-AS1, ADIPOQ-AS1, TM4SF19-AS1, ATP13A5-AS1, TMEM212-AS1, NAALADL2-AS2, NAALADL2-AS1, LINC01014, IQCJ-SCHIP1-AS1, XXYLT1-AS1, LOC100996447, LINC01206, LOC101243545, XXYLT1-AS2, LINC01213, LINC01214, ERICH6-AS1, LOC101928105, AADACL2-AS1, LOC101928166, LINC01487, IL12A-AS1, LOC101928583, LINC01209, LOC101928739, PEX5L-AS2, LOC101928882, LOC101928992, LOC101929106, LOC101929130, P3H2-AS1, ATP13A4-AS1, LOC101929337, LOC101929697, LINC01063, MIR6828, MIR7977, MIR6829, KCCAT211, LOC102724604, LOC102724699, LINCR-0002, LINC01322, LINC01327, LINC01324, KCNMB2-AS1, LOC105374177, LOC105374194, LOC105374205, LOC105374244, LOC105374250, LOC105374266, LOC105374297, LOC105374313, HTR3E-AS1, OSTN-AS1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
18.
GRCh37:
Chr3:147160353-178240319
GRCh38:
Chr3:147442566-178522531
AADAC, AGTR1, BCHE, CP, CPA3, CPB1, ECT2, MECOM, GHSR, GYG1, IL12A, KPNA4, TM4SF1, MBNL1, MLF1, MME, CLDN11, P2RY1, PFN2, SERPINI1, SERPINI2, PLD1, PRKCI, PTX3, RAP2B, RARRES1, SHOX2, SI, SIAH2, SKIL, SLC2A2, HLTF, SSR3, TERC, SEC62, TM4SF4, CLRN1, KCNAB1, B3GALNT1, TNFSF10, GMPS, SLC33A1, TSC22D2, P2RY14, SMC4, PDCD10, RNF13, SLITRK3, NLGN1, PLCH1, TNIK, WWTR1, TIPARP, ARHGEF26, GPR160, SERP1, GOLIM4, GPR171, SCHIP1, NMD3, COMMD2, RSRC1, SELT, P2RY13, GPR87, MYNN, EIF5A2, SUCNR1, LXN, CCNL1, NCEH1, IFT80, SLC7A14, MFSD1, FNDC3B, P2RY12, VEPH1, TBL1XR1, ZBBX, LRRC31, PHC3, ARL14, SPATA16, EIF2A, HPS3, ACTRT3, GFM1, TM4SF18, MED12L, OTOL1, ERICH6, PPM1L, WDR49, LRRC34, PQLC2L, C3orf79, SPTSSB, DHX36, RPL22L1, NAALADL2, IGSF10, PABPC1P10, C3orf33, TRIM59, LINC00880, LRRIQ4, SAMD7, AADACL2, GPR149, ANKUB1, LEKR1, TMEM212, MBNL1-AS1, C3orf80, MIR15B, MIR16-2, LOC440982, TMEM14E, LOC646903, FAM188B2, LINC01192, TMEM183B, IQCJ, SCARNA7, MIR551B, MIR569, LINC00886, LINC01100, WWTR1-AS1, TRV-AAC1-1, TIPARP-AS1, LOC100287290, MIR1263, LINC00881, MIR3919, IQCJ-SCHIP1, LINC01208, LINC00578, LOC100507461, ARHGEF26-AS1, LOC100507537, LOC100507661, MIR4789, LINC00501, MIR5186, NAALADL2-AS3, HLTF-AS1, NLGN1-AS1, PLCH1-AS1, PLCH1-AS2, KCNAB1-AS2, KCNAB1-AS1, TM4SF1-AS1, TMEM212-AS1, NAALADL2-AS2, NAALADL2-AS1, LINC01014, IQCJ-SCHIP1-AS1, LOC100996447, LOC101243545, LINC01213, LINC01214, ERICH6-AS1, LOC101928105, AADACL2-AS1, LOC101928166, LINC01487, IL12A-AS1, LOC101928583, LINC01209, MIR6828, MIR7977, KCCAT211, LINC01322, LINC01327, LINC01324, LOC105374177, LOC105374194, LOC105374205, LOC105374313
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
19.
GRCh37:
Chr3:136845824-197837049
GRCh38:
Chr3:137126982-198110178
AADAC, ACTL6A, AGTR1, AHSG, APOD, ATP1B3, ATR, BCHE, BCL6, BDH1, FOXL2, AP2M1, CLCN2, CP, CPA3, CPB1, CPN2, CRYGS, DGKG, DLG1, DVL3, ECT2, EHHADH, EIF4A2, EIF4G1, EPHB3, ETV5, MECOM, FGF12, GHSR, GP5, GYG1, HRG, HES1, IL1RAP, IL12A, KNG1, KPNA4, LPP, TM4SF1, MBNL1, MELTF, MLF1, MME, MUC4, NDUFB5, OPA1, CLDN11, P2RY1, PAK2, PCYT1A, PFN2, SERPINI1, SERPINI2, PIK3CA, PIK3CB, PLD1, PLOD2, PLS1, PLSCR1, POLR2H, PPP1R2, PRKCI, MASP1, PSMD2, PTX3, RAP2B, RARRES1, RASA2, RBP1, RBP2, RFC4, SNORA63, RPL35A, TRA2B, SHOX2, SI, SIAH2, ST6GAL1, SKIL, SLC2A2, HLTF, SOX2, SSR3, SST, TERC, TFDP2, TFRC, THPO, SEC62, TM4SF4, TRPC1, CLRN1, ZIC1, KCNAB1, FXR1, SOX14, TP63, CHRD, B3GALNT1, TNFSF10, GMPS, EIF2B5, USP13, CLDN1, MAP3K13, SLC33A1, COPB2, ADIPOQ, CHST2, RNF7, RUBCN, ECE2, TSC22D2, P2RY14, SMC4, ABCC5, TNK2, ALG3, KCNMB2, IGF2BP2, CLDN16, PDCD10, RNF13, MRAS, SLITRK3, NLGN1, NCBP2, PLCH1, TNIK, MCF2L2, ATP11B, U2SURP, VPS8, ACAP2, ARMC8, WWTR1, TIPARP, UBXN7, ARHGEF26, PCOLCE2, GPR160, FETUB, LAMP3, KCNMB3, SERP1, GOLIM4, GPR171, SCHIP1, NMD3, COMMD2, A4GNT, DBR1, ZNF639, CLDN18, RSRC1, PEX5L, SELT, DNAJB11, P2RY13, GPR87, DCUN1D1, XRN1, KLHL24, PIGX, TBCCD1, FAIM, SLC25A36, P3H2, ABCF3, LSG1, PARL, MFN1, YEATS2, MYNN, EIF5A2, SUCNR1, MCCC1, LXN, MRPS22, CCNL1, PLSCR2, PLSCR4, HRASLS, MRPL47, NCEH1, IFT80, SLC7A14, SENP2, GNB4, BPESC1, CLSTN2, RTP4, MAGEF1, ZMAT3, MFSD1, FNDC3B, P2RY12, ATP13A3, VEPH1, TBL1XR1, ZBBX, LRRC31, MAP6D1, PHC3, ARL14, PIGZ, CEP70, ESYT3, SPATA16, EIF2A, B3GNT5, ZIC4, IQCG, ATP13A4, FYTTD1, HPS3, ACTRT3, MGC2889, LRCH3, CEP19, GFM1, LMLN, KLHL6, VWA5B2, TMEM41A, SPSB4, PXYLP1, TMEM44, CAMK2N2, TM4SF19, TM4SF18, RPL39L, MED12L, DNAJC19, OTOL1, FAM131A, ZDHHC19, LRRC15, FAM43A, ERICH6, GRK7, TMEM207, RTP1, PISRT1, TTC14, PPM1L, WDR49, LRRC34, MB21D2, XXYLT1, PQLC2L, C3orf79, CCDC50, PYDC2, NCBP2-AS2, SPTSSB, RNF168, DHX36, HTR3C, DZIP1L, LIPH, HTR3D, RPL22L1, SLC51A, FBXO45, MUC20, C3orf58, SENP5, ZBTB38, LOC253573, NAALADL2, TCTEX1D2, SMCO1, GK5, UTS2B, SLC9A9, HTR3E, IGSF10, PABPC1P10, C3orf33, C3orf70, TPRG1, LOC285389, TRIM59, TRIM42, CCDC39, LINC00880, EHHADH-AS1, LPP-AS2, LRRIQ4, SAMD7, AADACL2, GPR149, PAQR9, RTP2, OSTN, ATP13A5, SOX2-OT, NME9, WDR53, NMNAT3, NRROS, PRR23B, PRR23C, PLSCR5, ANKUB1, LEKR1, TMEM212, FOXL2NB, MBNL1-AS1, C3orf80, FLJ46066, FLJ42393, LINC00884, LINC00885, MIR15B, MIR16-2, MIR28, LOC440982, LINC00969, SNORD2, SNORA4, TMEM14E, IGF2BP2-AS1, LOC646730, LOC646903, FAM188B2, LINC01192, GMNC, LOC647323, TMEM183B, IQCJ, SCARNA7, SNORA81, SNORD66, MIR551B, MIR569, MIR570, PRR23A, LINC00886, LINC01100, MIR922, MIR944, WWTR1-AS1, TNK2-AS1, LINC00887, LOC100131635, SNAR-I, MIR1224, TRV-AAC1-1, TIPARP-AS1, LOC100287290, LOC100289361, MIR1248, MIR1263, RNU6-42P, MIR3137, LINC00881, MIR3919, IQCJ-SCHIP1, LINC01208, LINC00578, LOC100505609, LINC00888, LOC100505920, MFI2-AS1, DLG1-AS1, LINC01210, LOC100507291, TMEM44-AS1, LOC100507389, LOC100507391, LOC100507461, ARHGEF26-AS1, LOC100507537, LOC100507661, TM4SF19-TCTEX1D2, MIR4448, MIR4797, MIR4789, LINC00501, MIR5186, MIR5588, MIR548AQ, NAALADL2-AS3, LPP-AS1, OPA1-AS1, HLTF-AS1, LMLN-AS1, ABCC5-AS1, FGF12-AS1, FGF12-AS3, NLGN1-AS1, KLHL6-AS1, TPRG1-AS2, UBXN7-AS1, PLCH1-AS1, PLCH1-AS2, TPRG1-AS1, EIF2B5-AS1, KCNAB1-AS2, KCNAB1-AS1, TM4SF1-AS1, ADIPOQ-AS1, TM4SF19-AS1, ATP13A5-AS1, TMEM212-AS1, NAALADL2-AS2, NAALADL2-AS1, LINC01014, IQCJ-SCHIP1-AS1, XXYLT1-AS1, SLC9A9-AS1, LOC100996447, LINC01206, LOC101243545, XXYLT1-AS2, CLSTN2-AS1, PAQR9-AS1, LOC101927866, LINC01213, LINC01214, ERICH6-AS1, LOC101928105, AADACL2-AS1, LOC101928166, LINC01487, IL12A-AS1, LOC101928583, LINC01209, LOC101928739, PEX5L-AS2, LOC101928882, LOC101928992, LOC101929106, LOC101929130, P3H2-AS1, ATP13A4-AS1, LOC101929337, LOC101929697, LINC01063, MIR6828, MIR7977, MIR6829, KCCAT211, LOC102724604, LOC102724699, LINCR-0002, LINC01391, LINC01322, LINC01327, LINC01324, KCNMB2-AS1, LOC105374177, LOC105374194, LOC105374205, LOC105374244, LOC105374250, LOC105374266, LOC105374297, LOC105374313, HTR3E-AS1, OSTN-AS1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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