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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
OTCOrnithine carbamoyltransferase deficiencyPathogenic
(Aug 1, 1990)
no assertion criteria providedVCV000010986
2.
GRCh37:
ChrX:15323210-153542100
ABCB7, AGTR2, NR0B1, ALAS2, ABCD1, SLC25A5, XIAP, AR, ARAF, ARHGAP4, ARR3, ATP2B3, ATP7A, ATRX, AVPR2, BGN, BMX, BRS3, BTK, CACNA1F, S100G, CAPN6, CD40LG, CDR1, CDX4, CETN2, CHM, CSTF2, CLCN5, CNGA2, COL4A5, COL4A6, COX7B, TEX28, CYBB, CYLC1, DCX, DDX3X, TIMM8A, DIAPH2, DLG3, DMD, DRP2, TSC22D3, DUSP9, EDA, EFNB1, EIF1AX, EIF2S3, ELF4, ELK1, F9, ACSL4, GPC4, FGD1, FGF13, FHL1, VEGFD, FMR1, AFF2, CENPI, GAGE1, GABRA3, GABRE, GAGE2C, GATA1, OPN1MW, GJB1, GK, GLA, GPC3, GLUD2, CXCR3, LPAR4, GPR34, GRIA3, GRPR, GUCY2F, HSD17B10, HCFC1, HMGB3, HNRNPH2, HPRT1, ERAS, HTR2C, IDH3G, IDS, IGBP1, IGSF1, IL2RG, IL13RA1, IL13RA2, IRAK1, KCND1, L1CAM, LAMP2, PRICKLE3, SH2D1A, MAGEA1, MAGEA2, MAGEA3, MAGEA4, MAGEA5, MAGEA6, MAGEA8, MAGEA9, MAGEA10, MAGEA11, MAGEA12, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MAOA, MAOB, MCF2, MECP2, FOXO4, CITED1, MSN, MTM1, NAP1L2, NAP1L3, NDP, NDUFA1, NHS, NONO, TBC1D25, OCRL, OPHN1, OTC, P2RY4, PAK3, CDK16, PDHA1, PDK3, CFP, PFKFB1, PGK1, PHEX, PHKA1, PHKA2, PIGA, PIN4, PLP1, PLP2, PLS3, PLXNB3, POLA1, POU3F4, PPEF1, PRPS1, PRRG1, PSMD10, RBBP7, RBM3, OPN1LW, RENBP, RP2, RPGR, RPL39, RPL36A, RPS4X, RPS6KA3, RS1, SAT1, SCML1, SH3BGRL, SLC6A8, SLC16A2, SMARCA1, SMS, SOX3, SSR4, SSX1, SSX2, SSX5, SSX4, CDKL5, SUV39H1, SYN1, SYP, TAF1, SERPINA7, DYNLT3, TFE3, TIMP1, TSPAN7, TSPAN6, TRO, TRPC5, UBA1, UBE2A, SLC35A2, KDM6A, WAS, XIST, XK, XPNPEP2, ZFX, ZIC3, ZNF711, ZNF182, ZNF41, ZNF75D, ZNF157, RNF113A, ZNF185, ZXDA, ZRSR2, USP11, USP9X, RBM10, KDM5C, SMC1A, NAA10, TMEM187, TKTL1, SRPX, UXT, CUL4B, IRS4, OGT, PIR, INE2, INE1, CASK, PAGE1, MTMR1, FGF16, AKAP4, APLN, AP1S2, RTL8C, SLC25A14, CLDN2, RGN, AIFM1, REPS2, ZMYM3, BMP15, GPR50, MED14, TCEAL1, RAB33A, TSIX, ITM2A, ARHGEF6, PCYT1B, MAGED1, XAGE2, PAGE4, MORF4L2, GPRASP1, STARD8, JADE3, ARMCX2, HEPH, MAGEC1, AMMECR1, MED12, ZBTB33, HDAC6, MAMLD1, HUWE1, PQBP1, BCAP31, ADGRG2, ATP6AP2, TENM1, SSX3, TIMM17B, RRAGB, SCML2, SLC9A6, ENOX2, PRDX4, EBP, STAG2, RAI2, PLAC1, CYSLTR1, UTP14A, ZNF275, PGRMC1, MAGED2, TMSB15A, PIM2, MID2, IL1RAPL1, WDR45, TREX2, PRAF2, CA5B, SLC6A14, KLF8, VSIG4, CNKSR2, IQSEC2, PHF8, SEPTIN6, ARHGEF9, ATP1B4, ACOT9, KCNE5, LDOC1, SMPX, GSPT2, KIF4A, FTSJ1, HYPM, RTL8A, IL1RAPL2, ITGB1BP2, SRPK3, GAGE12I, GAGE2E, BEX3, NOX1, FAM155B, GPR82, GPKOW, SRPX2, APEX2, RBMX, PCDH11X, RPS6KA6, P2RY10, HTATSF1, PCSK1N, CCDC22, MCTS1, MAGEH1, FAM156A, C1GALT1C1, SNX12, RPA4, PNMA3, UBQLN2, SH3KBP1, SPANXA1, NSDHL, FOXP3, TBX22, ZDHHC9, RLIM, TCEAL9, RAB9B, LUZP4, PDZD11, PBDC1, TFDP3, ARMCX1, MBTPS2, MAGEC2, VGLL1, ARMCX3, TAF9B, RBMX2, STK26, CPXCR1, CHIC1, FTHL17, GPR173, NLGN3, SASH3, TAF7L, SPIN2A, ARMCX6, WDR44, NDUFB11, GNL3L, ERCC6L, NUP62CL, GDPD2, BCOR, TBC1D8B, FAM120C, CT55, TMEM255A, RADX, NUDT11, RBM41, SAGE1, HAUS7, OTUD5, ZNF280C, MTMR8, KRBOX4, TXLNG, MBNL3, BEX1, HDAC8, GABRQ, ZC4H2, NXT2, NKRF, NXF5, NXF3, NXF2, KLHL4, TEX13B, TEX13A, TEX11, MOSPD1, BEX4, CTPS2, CHST7, TCEAL7, GRIPAP1, THOC2, ZNF630, CLTRN, SHROOM4, KIAA1210, MID1IP1, PCDH19, RTL9, PDZD4, LRCH2, MAGEE1, RAP2C, ACE2, TMEM35A, EDA2R, NYX, BCORL1, DUSP21, CXorf56, DMRTC1, TSPYL2, TNMD, PJA1, SPANXD, SPANXC, WDR13, PORCN, ARMCX5, UPF3B, WNK3, PRRG3, APOO, HMGN5, NKAP, RNF128, MAP7D3, MORC4, DIPK2B, LONRF3, ALG13, MAGIX, TCEAL4, TRMT2B, POF1B, CXorf21, EFHC2, KLHL15, ESX1, BHLHB9, MAGED4B, LAS1L, GPR101, TMEM47, CD99L2, USP26, MAGT1, TMEM164, PHF6, FRMPD3, ZMAT1, RHOXF2, TMEM185A, SLITRK2, GPR174, SLC9A7, BEX2, SLC7A3, PNMA6A, TCEAL3, CCNB3, PPP1R3F, FATE1, CCDC120, TSR2, HS6ST2, FRMD7, KLHL13, TGIF2LX, FAM104B, PAGE5, TCEAL8, CHRDL1, CXorf40A, CCNQ, RIPPLY1, SLC38A5, MMGT1, GCNA, SYAP1, SYTL4, SYTL5, PNMA5, GPRASP2, ATG4A, DACH2, SLITRK4, SPANXN3, MAGEC3, BEND2, PASD1, DCAF12L1, DGKK, PIH1D3, PWWP3B, FAM199X, AMER1, APOOL, HDX, FUNDC1, ADGRG4, PTCHD1, MAGEB10, DCAF8L1, OTUD6A, UPRT, MAGEE2, MAGEB16, FOXR2, PNCK, ZFP92, ACTRT1, GPR119, PAGE3, RBMXL3, DOCK11, SPIN4, ASB11, TCEAL2, PABPC5, RAB40A, ASB12, AMOT, CBLL2, CSAG1, FMR1NB, FAAH2, ZXDB, FAM47A, ARHGAP36, RIBC1, AKAP14, RHOXF1, MAGEB6, CXorf65, AWAT1, AWAT2, ZDHHC15, USP51, TCEAL6, H2BFWT, CXorf38, FAM122B, FAM122C, DDX53, TENT5D, SPIN3, FAM47B, CXorf22, SUPT20HL2, ZCCHC12, ARX, XAGE3, XAGE5, NUDT10, CT83, LINC01560, SLC25A43, RTL3, NRK, INTS6L, ZNF449, VMA21, TMEM31, PAGE2, BRWD3, CXorf58, CT47A11, BCLAF3, MAP7D2, KLHL34, TAB3, MAGEA2B, SSX7, RAB40AL, ATP11C, H2BFM, YIPF6, CFAP47, FAM133A, MAGEB18, TMSB15B, RTL5, NHSL2, PABPC1L2A, NEXMIF, BEX5, TCEAL5, VSIG1, ZC3H12B, SATL1, DCAF12L2, RTL4, LHFPL1, ZNF81, ITIH6, LANCL3, MPC1L, DCAF8L2, SOWAHD, OR13H1, CCDC160, CXorf66, DGAT2L6, RAB41, MAGEB5, MAP3K15, SPACA5, USP27X, PAGE2B, ZCCHC13, UBE2NL, CSAG3, GLOD5, ARL13A, SLC25A53, XKRX, YY2, MIRLET7F2, MIR105-1, MIR105-2, MIR106A, MIR19B2, MIR221, MIR222, MIR223, MIR224, MIR98, FTHL18, GLRA4, RTL8B, CT45A3, CT45A5, SPANXN4, PGAM4, FAM47C, SPIN2B, SPANXN1, SPANXN2, SPANXN5, MIR424, CT45A6, CT45A1, CXorf40B, SSX4B, JPX, MIR448, MIR502, MIR503, MIR506, MIR508, MIR509-1, MIR510, ZNF674, DANT2, CT47B1, ZCCHC18, SMIM10, GAGE2B, GAGE13, GAGE12G, CXorf30, MAGEB17, PABPC1L2B, PNMA6E, XAGE1B, XAGE1A, CT47A7, SNORA11, MIR532, SSX2B, FAM156B, RHOXF2B, CT47A10, CT47A9, CT47A8, CT47A6, CT47A5, CT47A4, CT47A3, CT47A2, CT47A1, MAGED4, MAGEA9B, NXF2B, OPN1MW2, DMRTC1B, SPANXB1, SPANXA2, CT45A2, SPACA5B, GAGE12J, GAGE2D, GAGE12C, GAGE12B, GAGE12E, GAGE12H, GAGE2A, GAGE12F, GAGE8, FMR1-AS1, MIR509-3, ARMCX3-AS1, GPR50-AS1, CXorf51A, HSFX2, SUPT20HL1, CXorf49, PRR32, ARMCX4, GAGE12D, CXorf49B, CXorf51B, FTX, TRPC5OS, MTRNR2L10, HSFX1, CT47A12, LOC100509091, ARMCX5-GPRASP2, RPL36A-HNRNPH2, TCP11X2
MECP2 duplication syndromePathogenicno assertion criteria providedVCV000626291
3.
GRCh37:
ChrX:36649710-136649711
ABCB7, AGTR2, ALAS2, SLC25A5, XIAP, AR, ARAF, ARR3, ATP7A, ATRX, BRS3, BTK, CACNA1F, CAPN6, CD40LG, CDX4, CHM, COX7B, CSTF2, CYBB, CYLC1, DCX, DDX3X, TIMM8A, DIAPH2, DLG3, DRP2, TSC22D3, EDA, EFNB1, ELF4, ELK1, ACSL4, GPC4, FGD1, FHL1, CENPI, GAGE1, GAGE2C, GATA1, GJB1, GLA, GPC3, GLUD2, CXCR3, LPAR4, GPR34, GRIA3, GUCY2F, HSD17B10, HNRNPH2, HPRT1, ERAS, HTR2C, IGBP1, IGSF1, IL2RG, IL13RA1, IL13RA2, KCND1, LAMP2, PRICKLE3, SH2D1A, MAOA, MAOB, FOXO4, CITED1, MSN, NAP1L2, NAP1L3, NDP, NDUFA1, NONO, TBC1D25, OCRL, OPHN1, OTC, P2RY4, PAK3, CDK16, CFP, PFKFB1, PGK1, PHKA1, PIN4, PLP1, PLP2, PLS3, POU3F4, PRPS1, PRRG1, PSMD10, RBM3, RP2, RPGR, RPL39, RPL36A, RPS4X, SH3BGRL, SLC16A2, SMARCA1, SSX1, SSX2, SSX5, SSX4, SUV39H1, SYN1, SYP, TAF1, SERPINA7, DYNLT3, TFE3, TIMP1, TSPAN7, TSPAN6, TRO, TRPC5, UBA1, UBE2A, SLC35A2, KDM6A, WAS, XIST, XK, XPNPEP2, ZIC3, ZNF711, ZNF182, ZNF41, ZNF75D, ZNF157, RNF113A, ZXDA, USP11, USP9X, RBM10, KDM5C, SMC1A, SRPX, UXT, CUL4B, IRS4, OGT, INE1, CASK, PAGE1, FGF16, AKAP4, APLN, RTL8C, SLC25A14, CLDN2, RGN, AIFM1, ZMYM3, BMP15, MED14, TCEAL1, RAB33A, TSIX, ITM2A, ARHGEF6, MAGED1, XAGE2, PAGE4, MORF4L2, GPRASP1, STARD8, JADE3, ARMCX2, HEPH, AMMECR1, MED12, ZBTB33, HDAC6, HUWE1, PQBP1, ATP6AP2, TENM1, SSX3, TIMM17B, RRAGB, SLC9A6, ENOX2, EBP, STAG2, PLAC1, CYSLTR1, UTP14A, PGRMC1, MAGED2, TMSB15A, PIM2, MID2, WDR45, PRAF2, SLC6A14, KLF8, VSIG4, IQSEC2, PHF8, SEPTIN6, ARHGEF9, ATP1B4, KCNE5, GSPT2, KIF4A, FTSJ1, HYPM, RTL8A, IL1RAPL2, ITGB1BP2, GAGE12I, GAGE2E, BEX3, NOX1, FAM155B, GPR82, GPKOW, SRPX2, APEX2, RBMX, PCDH11X, RPS6KA6, P2RY10, HTATSF1, PCSK1N, CCDC22, MCTS1, MAGEH1, FAM156A, C1GALT1C1, SNX12, RPA4, UBQLN2, FOXP3, TBX22, ZDHHC9, RLIM, TCEAL9, RAB9B, LUZP4, PDZD11, PBDC1, TFDP3, ARMCX1, VGLL1, ARMCX3, TAF9B, RBMX2, STK26, CPXCR1, CHIC1, GPR173, NLGN3, SASH3, TAF7L, SPIN2A, ARMCX6, WDR44, NDUFB11, GNL3L, ERCC6L, NUP62CL, CLCN5, COL4A5, COL4A6, GDPD2, BCOR, TBC1D8B, FAM120C, CT55, TMEM255A, RADX, NUDT11, RBM41, SAGE1, OTUD5, ZNF280C, MTMR8, KRBOX4, MBNL3, BEX1, HDAC8, ZC4H2, NXT2, NKRF, NXF5, NXF3, NXF2, KLHL4, TEX13B, TEX13A, TEX11, MOSPD1, BEX4, CHST7, TCEAL7, GRIPAP1, THOC2, ZNF630, SHROOM4, KIAA1210, PCDH19, RTL9, LRCH2, MAGEE1, RAP2C, MID1IP1, TMEM35A, EDA2R, NYX, BCORL1, DUSP21, CXorf56, DMRTC1, TSPYL2, TNMD, PJA1, WDR13, PORCN, ARMCX5, UPF3B, WNK3, HMGN5, NKAP, RNF128, MAP7D3, MORC4, DIPK2B, LONRF3, ALG13, MAGIX, TCEAL4, TRMT2B, POF1B, EFHC2, ESX1, BHLHB9, MAGED4B, LAS1L, GPR101, USP26, MAGT1, TMEM164, PHF6, FRMPD3, ZMAT1, RHOXF2, GPR174, SLC9A7, BEX2, SLC7A3, TCEAL3, CCNB3, PPP1R3F, CCDC120, TSR2, HS6ST2, FRMD7, KLHL13, TGIF2LX, FAM104B, PAGE5, TCEAL8, CHRDL1, RIPPLY1, SLC38A5, MMGT1, GCNA, SYTL4, SYTL5, GPRASP2, ATG4A, DACH2, DCAF12L1, DGKK, PIH1D3, PWWP3B, FAM199X, AMER1, APOOL, HDX, FUNDC1, ADGRG4, OTUD6A, UPRT, MAGEE2, FOXR2, ACTRT1, GPR119, PAGE3, RBMXL3, DOCK11, SPIN4, TCEAL2, PABPC5, RAB40A, ASB12, AMOT, FAAH2, ZXDB, ARHGAP36, RIBC1, AKAP14, RHOXF1, CXorf65, AWAT1, AWAT2, ZDHHC15, USP51, TCEAL6, H2BFWT, CXorf38, FAM122B, FAM122C, TENT5D, SPIN3, ZCCHC12, XAGE3, XAGE5, NUDT10, CT83, LINC01560, SLC25A43, RTL3, NRK, INTS6L, ZNF449, TMEM31, PAGE2, BRWD3, CT47A11, SSX7, RAB40AL, H2BFM, YIPF6, FAM133A, TMSB15B, RTL5, NHSL2, PABPC1L2A, NEXMIF, BEX5, TCEAL5, VSIG1, ZC3H12B, SATL1, DCAF12L2, RTL4, LHFPL1, ZNF81, ITIH6, LANCL3, MPC1L, SOWAHD, OR13H1, CCDC160, DGAT2L6, RAB41, SPACA5, USP27X, PAGE2B, ZCCHC13, GLOD5, ARL13A, SLC25A53, XKRX, MIRLET7F2, MIR106A, MIR19B2, MIR221, MIR222, MIR223, MIR98, FTHL18, GLRA4, RTL8B, CT45A3, CT45A5, PGAM4, FAM47C, SPIN2B, SPANXN5, MIR424, CT45A6, CT45A1, SSX4B, JPX, MIR448, MIR502, MIR503, ZNF674, DANT2, CT47B1, ZCCHC18, SMIM10, GAGE2B, GAGE13, GAGE12G, PABPC1L2B, XAGE1B, XAGE1A, CT47A7, SNORA11, MIR532, SSX2B, FAM156B, RHOXF2B, CT47A10, CT47A9, CT47A8, CT47A6, CT47A5, CT47A4, CT47A3, CT47A2, CT47A1, MAGED4, NXF2B, DMRTC1B, CT45A2, SPACA5B, GAGE12J, GAGE2D, GAGE12C, GAGE12B, GAGE12E, GAGE12H, GAGE2A, GAGE12F, GAGE8, ARMCX3-AS1, CXorf49, PRR32, ARMCX4, GAGE12D, CXorf49B, FTX, TRPC5OS, MTRNR2L10, CT47A12, ARMCX5-GPRASP2, RPL36A-HNRNPH2, TCP11X2
Heterotaxy, visceral, X-linkedPathogenic
(May 28, 2018)
no assertion criteria providedVCV000545551
4.
GRCh37:
ChrX:38211509
GRCh38:
ChrX:38352256
OTCnot specifiedBenign
(Feb 12, 2018)
criteria provided, single submitterVCV000516560
5.
GRCh37:
ChrX:38211584
GRCh38:
ChrX:38352331
OTCOrnithine carbamoyltransferase deficiency, not specifiedBenign/Likely benign
(Oct 23, 2017)
criteria provided, multiple submitters, no conflictsVCV000516756
6.
GRCh37:
ChrX:38211585
GRCh38:
ChrX:38352332
OTCnot specifiedBenign
(Dec 2, 2015)
criteria provided, single submitterVCV000380178
7.
GRCh37:
ChrX:38211591
GRCh38:
ChrX:38352338
OTCnot specifiedBenign
(Feb 12, 2018)
criteria provided, single submitterVCV000516401
8.
GRCh37:
ChrX:38211793
GRCh38:
ChrX:38352540
OTCOrnithine carbamoyltransferase deficiencyLikely pathogenic
(Dec 12, 2017)
no assertion criteria providedVCV000487480
9.
GRCh37:
ChrX:38211808
GRCh38:
ChrX:38352555
OTCOrnithine carbamoyltransferase deficiencyLikely pathogenic
(Dec 12, 2017)
no assertion criteria providedVCV000487342
10.
GRCh37:
ChrX:38211811
GRCh38:
ChrX:38352558
OTCOrnithine carbamoyltransferase deficiencyLikely pathogenic
(Dec 12, 2017)
no assertion criteria providedVCV000487341
11.
GRCh37:
ChrX:38211834
GRCh38:
ChrX:38352581
OTCOrnithine carbamoyltransferase deficiencyLikely pathogenic
(Dec 12, 2017)
no assertion criteria providedVCV000487343
12.
GRCh37:
ChrX:38211835
GRCh38:
ChrX:38352582
OTCOrnithine carbamoyltransferase deficiencyLikely pathogenic
(Dec 12, 2017)
no assertion criteria providedVCV000487344
13.
GRCh37:
ChrX:38211844
GRCh38:
ChrX:38352591
OTCnot provided, Ornithine carbamoyltransferase deficiencyUncertain significance
(Dec 12, 2017)
criteria provided, single submitterVCV000487338
14.
GRCh37:
ChrX:38211902
GRCh38:
ChrX:38352649
OTCOrnithine carbamoyltransferase deficiencyLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000368256
15.
GRCh37:
ChrX:38211946
GRCh38:
ChrX:38352693
OTCnot providedUncertain significance
(Jul 10, 2014)
criteria provided, single submitterVCV000203868
16.
GRCh37:
ChrX:38211950
GRCh38:
ChrX:38352697
OTCM1Lnot providedPathogenicno assertion criteria providedVCV000097131
17.
GRCh37:
ChrX:38211950
GRCh38:
ChrX:38352697
OTCM1Vnot providedPathogenicno assertion criteria providedVCV000097130
18.
GRCh37:
ChrX:38211951
GRCh38:
ChrX:38352698
OTCM1Tnot providedPathogenicno assertion criteria providedVCV000097164
19.
GRCh37:
ChrX:38211952
GRCh38:
ChrX:38352699
OTCM1Inot providedPathogenicno assertion criteria providedVCV000097189
20.
GRCh37:
ChrX:38211977-38211980
GRCh38:
ChrX:38352724-38352727
OTCnot providedPathogenicno assertion criteria providedVCV000097157
21.
GRCh37:
ChrX:38211989
GRCh38:
ChrX:38352736
OTCnot providedPathogenicno assertion criteria providedVCV000097194
22.
GRCh37:
ChrX:38212002
GRCh38:
ChrX:38352749
OTCnot providedPathogenicno assertion criteria providedVCV000097239
23.
GRCh37:
ChrX:38212016
GRCh38:
ChrX:38352763
OTCR23*not providedPathogenic
(Jun 7, 2017)
criteria provided, single submitterVCV000097292
24.
GRCh37:
ChrX:38212021-38212044
GRCh38:
ChrX:38352768-38352791
OTCOrnithine carbamoyltransferase deficiencyPathogenic
(Jul 6, 2015)
no assertion criteria providedVCV000217299
25.
GRCh37:
ChrX:38212025
GRCh38:
ChrX:38352772
OTCR26Wnot provided, Ornithine carbamoyltransferase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflictsVCV000368257
26.
GRCh37:
ChrX:38212026
GRCh38:
ChrX:38352773
OTCR26Pnot providedPathogenicno assertion criteria providedVCV000097319
27.
GRCh37:
ChrX:38212026
GRCh38:
ChrX:38352773
OTCR26Qnot provided, Ornithine carbamoyltransferase deficiencyPathogenic
(Jan 26, 2017)
criteria provided, single submitterVCV000010993
28.
GRCh37:
ChrX:38212027
GRCh38:
ChrX:38352774
OTCnot providedPathogenicno assertion criteria providedVCV000097314
29.
GRCh37:
ChrX:38212027
GRCh38:
ChrX:38352774
OTCnot providedPathogenicno assertion criteria providedVCV000097313
30.
GRCh37:
ChrX:38212028
GRCh38:
ChrX:38352775
OTCOrnithine carbamoyltransferase deficiencyLikely pathogenic
(Apr 2, 2018)
criteria provided, single submitterVCV000567293
31.
GRCh37:
ChrX:38212029-38212032
GRCh38:
ChrX:38352776-38352779
OTCnot providedPathogenicno assertion criteria providedVCV000097315
32.
GRCh37:
ChrX:38212030
GRCh38:
ChrX:38352777
OTCnot providedPathogenicno assertion criteria providedVCV000097316
33.
GRCh37:
ChrX:38212031
GRCh38:
ChrX:38352778
OTCnot providedPathogenicno assertion criteria providedVCV000097317
34.
GRCh37:
ChrX:38212035
GRCh38:
ChrX:38352782
OTCnot specifiedLikely benign
(Jun 21, 2017)
criteria provided, single submitterVCV000510531
35.
GRCh37:
ChrX:38226541
GRCh38:
ChrX:38367288
OTCnot providedPathogenicno assertion criteria providedVCV000097321
36.
GRCh37:
ChrX:38226543
GRCh38:
ChrX:38367290
OTCnot providedPathogenicno assertion criteria providedVCV000097320
37.
GRCh37:
ChrX:38226553
GRCh38:
ChrX:38367300
OTCnot specifiedLikely benign
(Dec 21, 2016)
criteria provided, single submitterVCV000392139
38.
GRCh37:
ChrX:38226560
GRCh38:
ChrX:38367307
OTCQ32*not providedPathogenicno assertion criteria providedVCV000097369
39.
GRCh37:
ChrX:38226572
GRCh38:
ChrX:38367319
OTCQ36*not providedPathogenicno assertion criteria providedVCV000097105
40.
GRCh37:
ChrX:38226580
GRCh38:
ChrX:38367327
OTCnot specifiedLikely benign
(Mar 28, 2016)
criteria provided, single submitterVCV000384579
41.
GRCh37:
ChrX:38226581
GRCh38:
ChrX:38367328
OTCG39Cnot providedPathogenicno assertion criteria providedVCV000097106
42.
GRCh37:
ChrX:38226584
GRCh38:
ChrX:38367331
OTCR40Cnot provided, Ornithine carbamoyltransferase deficiencyLikely pathogenic
(Feb 1, 2001)
criteria provided, multiple submitters, no conflictsVCV000011013
43.
GRCh37:
ChrX:38226585
GRCh38:
ChrX:38367332
OTCR40Hnot provided, Ornithine carbamoyltransferase deficiencyPathogenic
(Nov 1, 2001)
criteria provided, multiple submitters, no conflictsVCV000011014
44.
GRCh37:
ChrX:38226588
GRCh38:
ChrX:38367335
OTCD41Vnot providedUncertain significance
(Apr 15, 2016)
criteria provided, single submitterVCV000287258
45.
GRCh37:
ChrX:38226588
GRCh38:
ChrX:38367335
OTCD41Gnot providedPathogenicno assertion criteria providedVCV000097107
46.
GRCh37:
ChrX:38226593
GRCh38:
ChrX:38367340
OTCL43Fnot providedPathogenicno assertion criteria providedVCV000097108
47.
GRCh37:
ChrX:38226597
GRCh38:
ChrX:38367344
OTCT44Inot providedPathogenicno assertion criteria providedVCV000097109
48.
GRCh37:
ChrX:38226599
GRCh38:
ChrX:38367346
OTCL45Vnot providedPathogenicno assertion criteria providedVCV000097110
49.
GRCh37:
ChrX:38226600
GRCh38:
ChrX:38367347
OTCL45Pnot provided, Ornithine carbamoyltransferase deficiencyPathogenic
(Jan 26, 2017)
no assertion criteria providedVCV000010992
50.
GRCh37:
ChrX:38226601
GRCh38:
ChrX:38367348
OTCnot providedPathogenicno assertion criteria providedVCV000097111
51.
GRCh37:
ChrX:38226603
GRCh38:
ChrX:38367350
OTCK46Rnot specified, Ornithine carbamoyltransferase deficiency, ORNITHINE TRANSCARBAMYLASE POLYMORPHISM,
History of neurodevelopmental disorder, not provided
Benign
(Feb 5, 2016)
criteria provided, multiple submitters, no conflictsVCV000010994
52.
GRCh37:
ChrX:38226606-38226607
GRCh38:
ChrX:38367353-38367354
OTCnot providedPathogenicno assertion criteria providedVCV000097114
53.
GRCh37:
ChrX:38226606
GRCh38:
ChrX:38367353
OTCN47Inot providedPathogenicno assertion criteria providedVCV000097113
54.
GRCh37:
ChrX:38226606
GRCh38:
ChrX:38367353
OTCN47Tnot provided, Ornithine carbamoyltransferase deficiency, not specified
Uncertain significance
(Jun 23, 2016)
criteria provided, single submitterVCV000097112
55.
GRCh37:
ChrX:38226609
GRCh38:
ChrX:38367356
OTCF48Snot providedPathogenicno assertion criteria providedVCV000097115
56.
GRCh37:
ChrX:38226611
GRCh38:
ChrX:38367358
OTCT49Pnot providedPathogenicno assertion criteria providedVCV000097116
57.
GRCh37:
ChrX:38226614
GRCh38:
ChrX:38367361
OTCG50Rnot providedPathogenicno assertion criteria providedVCV000097117
58.
GRCh37:
ChrX:38226614
GRCh38:
ChrX:38367361
OTCG50*Ornithine carbamoyltransferase deficiency, not providedPathogenic
(Jul 1, 1992)
no assertion criteria providedVCV000011002
59.
GRCh37:
ChrX:38226620
GRCh38:
ChrX:38367367
OTCE52*not providedPathogenicno assertion criteria providedVCV000097119
60.
GRCh37:
ChrX:38226620
GRCh38:
ChrX:38367367
OTCE52Knot providedPathogenicno assertion criteria providedVCV000097118
61.
GRCh37:
ChrX:38226621
GRCh38:
ChrX:38367368
OTCE52Gnot providedPathogenicno assertion criteria providedVCV000097120
62.
GRCh37:
ChrX:38226622
GRCh38:
ChrX:38367369
OTCE52Dnot providedPathogenicno assertion criteria providedVCV000097121
63.
GRCh37:
ChrX:38226624
GRCh38:
ChrX:38367371
OTCI53Snot providedPathogenicno assertion criteria providedVCV000097123
64.
GRCh37:
ChrX:38226624
GRCh38:
ChrX:38367371
OTCI53Tnot providedPathogenicno assertion criteria providedVCV000097122
65.
GRCh37:
ChrX:38226629
GRCh38:
ChrX:38367376
OTCY55Dnot providedPathogenicno assertion criteria providedVCV000097124
66.
GRCh37:
ChrX:38226633
GRCh38:
ChrX:38367380
OTCM56Tnot specified, not providedLikely pathogenic
(Feb 2, 2017)
criteria provided, single submitterVCV000097125
67.
GRCh37:
ChrX:38226636
GRCh38:
ChrX:38367383
OTCL57Qnot providedPathogenicno assertion criteria providedVCV000097126
68.
GRCh37:
ChrX:38226640
GRCh38:
ChrX:38367387
OTCW58*not providedPathogenicno assertion criteria providedVCV000097127
69.
GRCh37:
ChrX:38226645
GRCh38:
ChrX:38367392
OTCS60Lnot providedPathogenicno assertion criteria providedVCV000097128
70.
GRCh37:
ChrX:38226654
GRCh38:
ChrX:38367401
OTCL63Pnot providedPathogenicno assertion criteria providedVCV000097129
71.
GRCh37:
ChrX:38226666
GRCh38:
ChrX:38367413
OTCI67Rnot providedPathogenicno assertion criteria providedVCV000097132
72.
GRCh37:
ChrX:38226671
GRCh38:
ChrX:38367418
OTCQ69*not providedPathogenic
(May 15, 2018)
criteria provided, single submitterVCV000097133
73.
GRCh37:
ChrX:38226683
GRCh38:
ChrX:38367430
OTCnot providedPathogenic
(Jan 15, 2016)
criteria provided, single submitterVCV000280295
74.
GRCh37:
ChrX:38226683
GRCh38:
ChrX:38367430
OTCnot providedPathogenicno assertion criteria providedVCV000097135
75.
GRCh37:
ChrX:38226683
GRCh38:
ChrX:38367430
OTCnot providedPathogenicno assertion criteria providedVCV000097134
76.
GRCh37:
ChrX:38226691
GRCh38:
ChrX:38367438
OTCOrnithine carbamoyltransferase deficiencyConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretationsVCV000368258
77.
GRCh37:
ChrX:38229047
GRCh38:
ChrX:38369794
OTCnot providedPathogenic
(Nov 13, 2013)
criteria provided, single submitterVCV000203869
78.
GRCh37:
ChrX:38229048
GRCh38:
ChrX:38369795
OTCOrnithine carbamoyltransferase deficiency, not providedPathogenic
(Feb 1, 2002)
no assertion criteria providedVCV000097136
79.
GRCh37:
ChrX:38229059
GRCh38:
ChrX:38369806
OTCL76Snot providedPathogenicno assertion criteria providedVCV000097137
80.
GRCh37:
ChrX:38229060
GRCh38:
ChrX:38369807
OTCL76Fnot providedLikely pathogenic
(Mar 15, 2017)
criteria provided, single submitterVCV000496896
81.
GRCh37:
ChrX:38229063
GRCh38:
ChrX:38369810
OTCL77Fnot providedPathogenicno assertion criteria providedVCV000097138
82.
GRCh37:
ChrX:38229064
GRCh38:
ChrX:38369811
OTCQ78*not providedPathogenicno assertion criteria providedVCV000097139
83.
GRCh37:
ChrX:38229068
GRCh38:
ChrX:38369815
OTCG47E, G79EOrnithine carbamoyltransferase deficiency, not providedPathogenic
(Feb 1, 2002)
no assertion criteria providedVCV000011006
84.
GRCh37:
ChrX:38229070
GRCh38:
ChrX:38369817
OTCK80Enot provided, Ornithine carbamoyltransferase deficiencyPathogenic
(Nov 5, 2012)
criteria provided, single submitterVCV000093219
85.
GRCh37:
ChrX:38229072
GRCh38:
ChrX:38369819
OTCK80Nnot providedPathogenicno assertion criteria providedVCV000097140
86.
GRCh37:
ChrX:38229075-38229077
GRCh38:
ChrX:38369822-38369824
OTCL82delnot providedPathogenicno assertion criteria providedVCV000097141
87.
GRCh37:
ChrX:38229077
GRCh38:
ChrX:38369824
OTCL82*not providedPathogenicno assertion criteria providedVCV000097142
88.
GRCh37:
ChrX:38229079
GRCh38:
ChrX:38369826
OTCG83Rnot providedPathogenicno assertion criteria providedVCV000097143
89.
GRCh37:
ChrX:38229080
GRCh38:
ChrX:38369827
OTCG83Dnot providedPathogenicno assertion criteria providedVCV000097144
90.
GRCh37:
ChrX:38229086
GRCh38:
ChrX:38369833
OTCI85TOrnithine carbamoyltransferase deficiencyLikely pathogenic
(Dec 7, 2015)
no assertion criteria providedVCV000236191
91.
GRCh37:
ChrX:38229091
GRCh38:
ChrX:38369838
OTCE87KOrnithine carbamoyltransferase deficiency, not providedPathogenic
(Jul 1, 1992)
no assertion criteria providedVCV000011001
92.
GRCh37:
ChrX:38229096
GRCh38:
ChrX:38369843
OTCK88Nnot providedPathogenicno assertion criteria providedVCV000097145
93.
GRCh37:
ChrX:38229100
GRCh38:
ChrX:38369847
OTCS90Gnot providedPathogenicno assertion criteria providedVCV000097146
94.
GRCh37:
ChrX:38229101
GRCh38:
ChrX:38369848
OTCS90Nnot providedPathogenicno assertion criteria providedVCV000097147
95.
GRCh37:
ChrX:38229102
GRCh38:
ChrX:38369849
OTCHistory of neurodevelopmental disorderLikely benign
(Oct 3, 2016)
criteria provided, single submitterVCV000589416
96.
GRCh37:
ChrX:38229102
GRCh38:
ChrX:38369849
OTCS90Rnot providedPathogenicno assertion criteria providedVCV000097148
97.
GRCh37:
ChrX:38229103
GRCh38:
ChrX:38369850
OTCnot providedPathogenicno assertion criteria providedVCV000097149
98.
GRCh37:
ChrX:38229104
GRCh38:
ChrX:38369851
OTCT91IHistory of neurodevelopmental disorderUncertain significance
(May 1, 2017)
criteria provided, single submitterVCV000589038
99.
GRCh37:
ChrX:38229106
GRCh38:
ChrX:38369853
OTCR92*not providedPathogenic
(May 21, 2018)
criteria provided, single submitterVCV000097151
100.
GRCh37:
ChrX:38229106
GRCh38:
ChrX:38369853
OTCR92Gnot providedPathogenicno assertion criteria providedVCV000097150
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