ClinVar for Gene (Select 29071) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3026056	NM_001011551.3(C1GALT1C1):c.193A>G (p.Lys65Glu)	C1GALT1C1 (K30E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	TMEM31, TMEM35A +488 more	Copy number gain	not provided	GPathogenic
Select item 2961365	NM_001011551.3(C1GALT1C1):c.338T>C (p.Met113Thr)	C1GALT1C1 (M113T +1 more)	Single nucleotide variant (missense variant)	Polyagglutinable erythrocyte syndrome	GUncertain significance
Select item 2863738	NM_001011551.3(C1GALT1C1):c.135A>G (p.Gln45=)	C1GALT1C1	Single nucleotide variant (synonymous variant)	Polyagglutinable erythrocyte syndrome	GLikely benign
Select item 2766586	NM_001011551.3(C1GALT1C1):c.440C>T (p.Thr147Met)	C1GALT1C1 (T147M +1 more)	Single nucleotide variant (missense variant)	Polyagglutinable erythrocyte syndrome	GLikely benign
Select item 2693892	NM_001011551.3(C1GALT1C1):c.430C>T (p.Arg144Cys)	C1GALT1C1 (R109C +1 more)	Single nucleotide variant (missense variant)	Polyagglutinable erythrocyte syndrome	GUncertain significance
Select item 2685761	GRCh37/hg19 Xq23-25(chrX:110921170-124327177)x2	AGTR2, AKAP14 +66 more	Copy number gain	not provided	GPathogenic
Select item 2685718	GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	ABCD1, ACTRT1 +246 more	Copy number loss	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	GPathogenic
Select item 2685715	GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	ACSL4, AGTR2 +175 more	Copy number loss	not provided	GPathogenic
Select item 2685006	GRCh37/hg19 Xq24(chrX:119728920-119996014)x3	C1GALT1C1, MCTS1	Copy number gain	not provided	GUncertain significance
Select item 2605789	NM_001011551.3(C1GALT1C1):c.755G>A (p.Gly252Glu)	C1GALT1C1 (G217E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603253	NM_001011551.3(C1GALT1C1):c.515C>G (p.Thr172Ser)	C1GALT1C1 (T172S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552478	NM_001011551.3(C1GALT1C1):c.763A>G (p.Ile255Val)	C1GALT1C1 (I220V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545286	NM_001011551.3(C1GALT1C1):c.513C>A (p.His171Gln)	C1GALT1C1 (H171Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506572	NM_001011551.3(C1GALT1C1):c.266C>T (p.Thr89Ile)	C1GALT1C1 (T54I +1 more)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GPathogenic
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2427183	NC_000023.10:g.(?_118708675)_(119761021_?)dup	ATP1B4, AKAP14 +18 more	Duplication	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2425675	NC_000023.10:g.(?_117629935)_(119761021_?)dup	AKAP14, ATP1B4 +27 more	Duplication	not provided	GUncertain significance
Select item 2424705	NC_000023.10:g.(?_117629935)_(119761021_?)del	AKAP14, ATP1B4 +27 more	Deletion	X-linked intellectual disability Cabezas type	GPathogenic
Select item 2280473	NM_001011551.3(C1GALT1C1):c.391G>A (p.Asp131Asn)	C1GALT1C1 (D96N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204275	NM_001011551.3(C1GALT1C1):c.597C>G (p.Ser199Arg)	C1GALT1C1 (S199R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2086085	NM_001011551.3(C1GALT1C1):c.441G>A (p.Thr147=)	C1GALT1C1	Single nucleotide variant (synonymous variant)	Polyagglutinable erythrocyte syndrome	GLikely benign
Select item 2053791	NM_001011551.3(C1GALT1C1):c.606T>A (p.Asn202Lys)	C1GALT1C1 (N167K +1 more)	Single nucleotide variant (missense variant)	Polyagglutinable erythrocyte syndrome +1 more	GUncertain significance
Select item 2051173	NM_001011551.3(C1GALT1C1):c.666G>C (p.Gln222His)	C1GALT1C1 (Q187H +1 more)	Single nucleotide variant (missense variant)	Polyagglutinable erythrocyte syndrome +1 more	GLikely benign
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1706520	GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	NXF5, NXT2 +414 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	H2AB3, H2BW1 +502 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1675199	NM_001011551.3(C1GALT1C1):c.59C>A (p.Ala20Asp)	C1GALT1C1 (A20D)	Single nucleotide variant (missense variant)	Abnormal protein O-linked glycosylation	GLikely pathogenic
Select item 1553756	NM_001011551.3(C1GALT1C1):c.894A>G (p.Ala298=)	C1GALT1C1	Single nucleotide variant (synonymous variant)	Polyagglutinable erythrocyte syndrome	GLikely benign
Select item 1479927	NM_001011551.3(C1GALT1C1):c.152A>G (p.Asp51Gly)	C1GALT1C1 (D51G)	Single nucleotide variant (missense variant)	Polyagglutinable erythrocyte syndrome	GUncertain significance
Select item 1402703	NM_001011551.3(C1GALT1C1):c.317A>G (p.Lys106Arg)	C1GALT1C1 (K106R)	Single nucleotide variant (missense variant)	Polyagglutinable erythrocyte syndrome	GUncertain significance
Select item 1341314	GRCh37/hg19 Xq24-25(chrX:119173583-126584360)x2	ATP1B4, C1GALT1C1 +31 more	Copy number gain	not provided	GPathogenic
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1340748	GRCh37/hg19 Xq24(chrX:119448146-119899748)x2	ATP1B4, C1GALT1C1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic
Select item 1078297	NM_001011551.3(C1GALT1C1):c.636G>A (p.Gly212=)	C1GALT1C1	Single nucleotide variant (synonymous variant)	Polyagglutinable erythrocyte syndrome	GLikely benign
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	ABCB7, ABCD1 +510 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ABCB7, ABCD1 +514 more	Copy number gain	See cases	GPathogenic
Select item 980319	GRCh37/hg19 Xq24-26.1(chrX:117120780-129850994)x3	C1GALT1C1, CT47A1 +69 more	Copy number gain	not provided	GPathogenic
Select item 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	GPathogenic
Select item 979829	GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1	ACSL4, ACTRT1 +201 more	Copy number loss	not provided	GPathogenic
Select item 934543	NM_001011551.3(C1GALT1C1):c.662A>G (p.Lys221Arg)	C1GALT1C1 (K221R)	Single nucleotide variant (missense variant)	Polyagglutinable erythrocyte syndrome	GUncertain significance
Select item 934542	NM_001011551.3(C1GALT1C1):c.178C>T (p.Arg60Cys)	C1GALT1C1 (R60C)	Single nucleotide variant (missense variant)	Polyagglutinable erythrocyte syndrome	GUncertain significance
Select item 873539	NM_001011551.3(C1GALT1C1):c.540T>G (p.Tyr180Ter)	C1GALT1C1 (Y180*)	Single nucleotide variant (nonsense)	Polyagglutinable erythrocyte syndrome	GPathogenic
Select item 849367	NM_001011551.3(C1GALT1C1):c.940G>C (p.Gly314Arg)	C1GALT1C1 (G314R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 816382	GRCh37/hg19 Xq24-26.1(chrX:117119895-129850963)x2	ACTRT1, AIFM1 +69 more	Copy number gain	not provided	GPathogenic
Select item 816368	GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1	ABCD1, ACSL4 +398 more	Copy number loss	not provided	GPathogenic
Select item 816364	GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	ABCD1, ACSL4 +410 more	Copy number loss	not provided	GPathogenic
Select item 791741	NM_001011551.3(C1GALT1C1):c.302G>A (p.Ser101Asn)	C1GALT1C1 (S101N)	Single nucleotide variant (missense variant)	C1GALT1C1-related disorder +1 more	GBenign
Select item 760426	NM_001011551.3(C1GALT1C1):c.216T>C (p.Ile72=)	C1GALT1C1	Single nucleotide variant (synonymous variant)	Polyagglutinable erythrocyte syndrome	GLikely benign
Select item 739307	NM_001011551.3(C1GALT1C1):c.70A>G (p.Met24Val)	C1GALT1C1 (M24V)	Single nucleotide variant (missense variant)	Polyagglutinable erythrocyte syndrome	GBenign
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RBMXL3, RENBP +821 more	Copy number loss	not provided	GPathogenic
Select item 687519	GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	RBMX2, RBMXL3 +525 more	Copy number loss	not provided	GUncertain significance
Select item 687132	GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1	ABCD1, ACTRT1 +262 more	Copy number loss	not provided	GPathogenic
Select item 686250	GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1	ABCD1, ACSL4 +320 more	Copy number loss	not provided	GPathogenic
Select item 685566	GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	AMOT, APLN +503 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	ZNF275, ZNF280C +821 more	Copy number gain	not provided	GPathogenic
Select item 684964	GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1	AIFM1, CXorf51A +389 more	Copy number loss	not provided	GPathogenic
Select item 648495	NM_001011551.3(C1GALT1C1):c.139C>T (p.Pro47Ser)	C1GALT1C1 (P47S)	Single nucleotide variant (missense variant)	Polyagglutinable erythrocyte syndrome	GUncertain significance
Select item 626291	Single allele	PAGE2B, PAGE3 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 564888	GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3	ACTRT1, ADGRG4 +122 more	Copy number gain	not provided	GPathogenic
Select item 564884	GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1	FMR1-AS1, FMR1NB +297 more	Copy number loss	not provided	GPathogenic
Select item 564874	GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1	ABCD1, ACSL4 +385 more	Copy number loss	not provided	GPathogenic
Select item 564868	GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1	ABCD1, ACSL4 +390 more	Copy number loss	not provided	GPathogenic
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	ADGRG4, ACTRT1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 488014	Single allele	ARMCX3, CT47A11 +2631 more	Duplication	Autism +1 more	GPathogenic
Select item 460285	NM_001011551.3(C1GALT1C1):c.428C>T (p.Ala143Val)	C1GALT1C1 (A143V)	Single nucleotide variant (missense variant)	Polyagglutinable erythrocyte syndrome	GBenign
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	TBL1X, TBX22 +818 more	Copy number gain	See cases	GPathogenic
Select item 443630	GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1	LRCH2, LUZP4 +277 more	Copy number loss	See cases	GPathogenic
Select item 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	ABCB7, ABCD1 +695 more	Copy number loss	See cases	GPathogenic
Select item 443017	GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3	RBMX2, RBMXL3 +509 more	Copy number gain	See cases	GPathogenic
Select item 442945	GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1	ABCD1, ACSL4 +410 more	Copy number loss	See cases	GPathogenic
Select item 442821	GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3	ACSL4, ACTRT1 +303 more	Copy number gain	See cases	GUncertain significance
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	HDAC8, HDX +731 more	Copy number loss	See cases	GPathogenic
Select item 442712	GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1	ABCD1, ACSL4 +384 more	Copy number loss	See cases	GPathogenic
Select item 442646	GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3	LHFPL1, LONRF3 +505 more	Copy number gain	See cases	GPathogenic
Select item 442531	GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3	MECP2, MED12 +523 more	Copy number gain	See cases	GPathogenic
Select item 442422	GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1	ATP11C, ATP1B4 +393 more	Copy number loss	See cases	GPathogenic
Select item 442321	GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	ABCB7, ABCD1 +505 more	Copy number gain	See cases	GPathogenic
Select item 442262	GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1	ABCD1, ACTRT1 +266 more	Copy number loss	See cases	GPathogenic
Select item 442001	GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1	ABCD1, ACSL4 +406 more	Copy number loss	See cases	GPathogenic
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance
Select item 395718	GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	FAM133A, FAM156A +819 more	Copy number loss	See cases	GPathogenic
Select item 395687	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	FOXO4, FOXP3 +819 more	Copy number loss	See cases	GPathogenic
Select item 395686	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	TMSB4X, TNMD +819 more	Copy number gain	See cases	GPathogenic
Select item 395246	GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1	ABCD1, ACSL4 +387 more	Copy number loss	See cases	GPathogenic
Select item 395066	GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1	ABCD1, ACSL4 +314 more	Copy number loss	See cases	GPathogenic
Select item 394846	GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3	ACSL4, ACTRT1 +180 more	Copy number gain	See cases	GPathogenic
Select item 394706	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	GPKOW, PIN4 +819 more	Copy number gain	See cases	GPathogenic
Select item 394672	GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	CT47A11, CT47A12 +818 more	Copy number loss	See cases	GPathogenic
Select item 394066	GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4	CT47A2, CT47A3 +299 more	Copy number gain	See cases	GPathogenic
Select item 394013	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	CT45A2, PIN4 +819 more	Copy number loss	See cases	GPathogenic
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic

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