ClinVar for Gene (Select 51480) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370372	GRCh38/hg38 Xp22.31(chrX:7852595-8327609)x2	LOC106029241, LOC121627957 +9 more	Copy number gain	Intellectual disability	GUncertain significance
Select item 3370370	GRCh38/hg38 Xp22.31(chrX:7837966-8196762)x2	LOC106029241, LOC121627957 +10 more	Copy number gain	Intellectual disability	GUncertain significance
Select item 3370369	GRCh38/hg38 Xp22.33-22.2(chrX:11091-10219826)x1	AKAP17A, ANOS1 +145 more	Copy number loss	Intellectual disability	GPathogenic
Select item 3331968	NM_016378.3(VCX2):c.243C>A (p.Ser81Arg)	LOC106029241, VCX2 (S81R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331967	NM_016378.3(VCX2):c.410G>A (p.Ser137Asn)	LOC106029241, VCX2 (S137N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331966	NM_016378.3(VCX2):c.208G>A (p.Ala70Thr)	LOC106029241, VCX2 (A70T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3188384	NM_016378.3(VCX2):c.89A>G (p.Asp30Gly)	LOC106029241, VCX2 (D30G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188383	NM_016378.3(VCX2):c.392T>A (p.Phe131Tyr)	LOC106029241, VCX2 (F131Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3188382	NM_016378.3(VCX2):c.374C>T (p.Thr125Ile)	LOC106029241, VCX2 (T125I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188381	NM_016378.3(VCX2):c.374C>G (p.Thr125Ser)	LOC106029241, VCX2 (T125S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188379	NM_016378.3(VCX2):c.272C>T (p.Pro91Leu)	LOC106029241, VCX2 (P91L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188378	NM_016378.3(VCX2):c.23C>T (p.Ser8Leu)	LOC106029241, VCX2 (S8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188377	NM_016378.3(VCX2):c.190G>A (p.Ala64Thr)	LOC106029241, VCX2 (A64T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188376	NM_016378.3(VCX2):c.151G>A (p.Gly51Arg)	LOC106029241, VCX2 (G51R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188375	NM_016378.3(VCX2):c.149G>T (p.Arg50Leu)	LOC106029241, VCX2 (R50L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188374	NM_016378.3(VCX2):c.148C>T (p.Arg50Cys)	LOC106029241, VCX2 (R50C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148914	GRCh37/hg19 Xp22.31(chrX:6455151-8143319)x2	PNPLA4, PUDP +3 more	Copy number gain	See cases	GUncertain significance
Select item 3148904	GRCh37/hg19 Xp22.31(chrX:6455152-8141076)x0	PNPLA4, PUDP +3 more	Copy number loss	not provided	GUncertain significance
Select item 3148845	GRCh37/hg19 Xp22.31(chrX:6140022-8599803)x3	ANOS1, VCX2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062505	GRCh37/hg19 Xp22.31-22.2(chrX:6759774-10831816)	WWC3, ANOS1 +13 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 2685730	GRCh37/hg19 Xp22.31(chrX:8135645-8525949)x2	VCX2, ANOS1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2685727	GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2	ACE2, ACOT9 +120 more	Copy number gain	not provided	GPathogenic
Select item 2685692	GRCh37/hg19 Xp22.31(chrX:6591135-9498909)x1	PNPLA4, PUDP +8 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2685332	GRCh37/hg19 Xp22.31(chrX:7814664-8428908)x0	PNPLA4, VCX2	Copy number loss	not provided	GUncertain significance
Select item 2685110	GRCh37/hg19 Xp22.31(chrX:6591135-9498909)x0	ANOS1, FAM9A +8 more	Copy number loss	not provided	GPathogenic
Select item 2659929	NM_016378.3(VCX2):c.216G>A (p.Ala72=)	LOC106029241, VCX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659928	NM_016378.3(VCX2):c.225C>A (p.Gly75=)	LOC106029241, VCX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659927	NM_016378.3(VCX2):c.273G>A (p.Pro91=)	LOC106029241, VCX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659926	NM_016378.3(VCX2):c.309C>A (p.Pro103=)	LOC106029241, VCX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659925	NM_016378.3(VCX2):c.396C>T (p.Ser132=)	LOC106029241, VCX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619715	NM_016378.3(VCX2):c.218C>T (p.Ala73Val)	LOC106029241, VCX2 (A73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613676	NM_016378.3(VCX2):c.164C>T (p.Ala55Val)	LOC106029241, VCX2 (A55V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594660	NM_016378.3(VCX2):c.247G>C (p.Glu83Gln)	LOC106029241, VCX2 (E83Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531213	NM_016378.3(VCX2):c.415G>C (p.Asp139His)	LOC106029241, VCX2 (D139H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516392	NM_016378.3(VCX2):c.127A>G (p.Lys43Glu)	LOC106029241, VCX2 (K43E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506547	GRCh37/hg19 Xp22.31(chrX:6968337-8434424)	PNPLA4, PUDP +4 more	Copy number loss	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2499663	GRCh38/hg38 Xp22.31(chrX:7873079-8504515)	LOC106029241, LOC121627957 +12 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2486897	NM_016378.3(VCX2):c.226C>T (p.Pro76Ser)	LOC106029241, VCX2 (P76S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484982	NM_016378.3(VCX2):c.307C>A (p.Pro103Thr)	LOC106029241, VCX2 (P103T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476071	NM_016378.3(VCX2):c.149G>A (p.Arg50His)	LOC106029241, VCX2 (R50H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471911	NM_016378.3(VCX2):c.274G>A (p.Glu92Lys)	LOC106029241, VCX2 (E92K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411588	NM_016378.3(VCX2):c.400G>A (p.Val134Ile)	LOC106029241, VCX2 (V134I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2410713	NM_016378.3(VCX2):c.167C>G (p.Ala56Gly)	LOC106029241, VCX2 (A56G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408962	NM_016378.3(VCX2):c.345T>A (p.Ser115Arg)	LOC106029241, VCX2 (S115R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405942	NM_016378.3(VCX2):c.269C>T (p.Pro90Leu)	LOC106029241, VCX2 (P90L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388647	NM_016378.3(VCX2):c.233A>G (p.Asp78Gly)	LOC106029241, VCX2 (D78G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378483	NM_016378.3(VCX2):c.223G>A (p.Gly75Ser)	LOC106029241, VCX2 (G75S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377078	NM_016378.3(VCX2):c.184G>A (p.Val62Met)	LOC106029241, VCX2 (V62M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364155	NM_016378.3(VCX2):c.173A>G (p.Lys58Arg)	LOC106029241, VCX2 (K58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359826	NM_016378.3(VCX2):c.301C>G (p.His101Asp)	LOC106029241, VCX2 (H101D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346185	NM_016378.3(VCX2):c.235C>A (p.Gln79Lys)	LOC106029241, VCX2 (Q79K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330075	NM_016378.3(VCX2):c.220C>A (p.Pro74Thr)	LOC106029241, VCX2 (P74T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320275	NM_016378.3(VCX2):c.104C>A (p.Thr35Asn)	LOC106029241, VCX2 (T35N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303724	NM_016378.3(VCX2):c.288C>G (p.Ser96Arg)	LOC106029241, VCX2 (S96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279573	NM_016378.3(VCX2):c.343A>C (p.Ser115Arg)	LOC106029241, VCX2 (S115R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279149	NM_016378.3(VCX2):c.400G>C (p.Val134Leu)	LOC106029241, VCX2 (V134L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269070	NM_016378.3(VCX2):c.350A>G (p.Glu117Gly)	LOC106029241, VCX2 (E117G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244946	NM_016378.3(VCX2):c.289G>A (p.Glu97Lys)	LOC106029241, VCX2 (E97K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221726	NM_016378.3(VCX2):c.293G>A (p.Gly98Glu)	LOC106029241, VCX2 (G98E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221362	NM_016378.3(VCX2):c.303C>G (p.His101Gln)	LOC106029241, VCX2 (H101Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221361	NM_016378.3(VCX2):c.296C>G (p.Thr99Ser)	LOC106029241, VCX2 (T99S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2208595	NM_016378.3(VCX2):c.211C>T (p.Pro71Ser)	LOC106029241, VCX2 (P71S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809291	GRCh37/hg19 Xp22.31(chrX:6647161-8760719)x1	ANOS1, FAM9A +6 more	Copy number loss	not provided	GPathogenic
Select item 1808678	GRCh37/hg19 Xp22.33-22.2(chrX:2703633-14515021)x2	AMELX, ANOS1 +42 more	Copy number gain	not provided	GPathogenic
Select item 1808630	GRCh37/hg19 Xp22.33-22.2(chrX:1932788-9676331)x1	ANOS1, ARSD +19 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807764	GRCh37/hg19 Xp22.31(chrX:6658781-8760719)x1	ANOS1, FAM9A +6 more	Copy number loss	not provided	GPathogenic
Select item 1708462	GRCh37/hg19 Xp22.31(chrX:6677961-8144721)x3	PNPLA4, PUDP +3 more	Copy number gain	See cases	GPathogenic
Select item 1707443	GRCh37/hg19 Xp22.33-22.2(chrX:168546-11080743)x1	ANOS1, ARSD +24 more	Copy number loss	See cases	GPathogenic
Select item 1706494	GRCh37/hg19 Xp22.33-22.2(chrX:168546-10368820)x1	GYG2, ANOS1 +23 more	Copy number loss	See cases	GPathogenic
Select item 1705880	GRCh37/hg19 Xp22.31(chrX:6467006-8131810)x3	PNPLA4, PUDP +4 more	Copy number gain	Global developmental delay	GLikely benign
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 1341138	GRCh37/hg19 Xp22.31(chrX:7514750-8141076)x3	PNPLA4, VCX +1 more	Copy number gain	not provided	GLikely benign
Select item 1340211	GRCh37/hg19 Xp22.31(chrX:7810716-8428908)x0	PNPLA4, VCX +1 more	Copy number loss	not provided	GUncertain significance
Select item 1340200	GRCh37/hg19 Xp22.31(chrX:6112444-8257510)x2	NLGN4X, PNPLA4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1339830	GRCh37/hg19 Xp22.31(chrX:6455149-8143242)x1	PNPLA4, PUDP +3 more	Copy number loss	X-linked ichthyosis with steryl-sulfatase deficiency	Gnot provided
Select item 1300213	GRCh37/hg19 Xp22.31(chrX:6456940-8135053)x0	PNPLA4, PUDP +4 more	Copy number loss	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 1300212	GRCh37/hg19 Xp22.31(chrX:6575924-8173248)x0	PNPLA4, PUDP +3 more	Copy number loss	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 1206227	NM_016378.3(VCX2):c.271C>T (p.Pro91Ser)	LOC106029241, VCX2 (P91S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 1172822	Single allele	PNPLA4, PUDP +4 more	Deletion	Cerebral palsy	GPathogenic
Select item 992647	GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	ACE2, ACOT9 +309 more	Copy number loss	not provided	GPathogenic
Select item 983193	GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	ACE2, ACOT9 +304 more	Copy number loss	See cases	GPathogenic
Select item 980838	GRCh37/hg19 Xp22.31(chrX:7863476-9234976)x1	ANOS1, FAM9A +4 more	Copy number loss	not provided	GPathogenic
Select item 929313	GRCh37/hg19 Xp22.31(chrX:6450700-8138035)x2	PNPLA4, PUDP +4 more	Copy number gain	See cases	GLikely pathogenic
Select item 816622	GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1	FANCB, ARSD-AS1 +125 more	Copy number loss	not provided	GPathogenic
Select item 816523	GRCh37/hg19 Xp22.31(chrX:7906287-8432715)x2	VCX2	Copy number gain	See cases	GLikely benign
Select item 816295	GRCh37/hg19 Xp22.31(chrX:8135644-8747411)x2	VCX2, ANOS1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 816281	GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2	FAM9B, AMELX +82 more	Copy number gain	not provided	GPathogenic

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