ClinVar for Gene (Select 51481) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3363162	Single allele	LOC106029240, LOC113875037 +26 more	Deletion	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 3331977	NM_016379.4(VCX3A):c.506A>T (p.Gln169Leu)	LOC106029240, VCX3A (Q169L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331976	NM_016379.4(VCX3A):c.466C>A (p.Gln156Lys)	LOC106029240, VCX3A (Q156K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331975	NM_016379.4(VCX3A):c.353G>C (p.Ser118Thr)	LOC106029240, VCX3A (S118T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331974	NM_016379.4(VCX3A):c.512A>T (p.Glu171Val)	LOC106029240, VCX3A (E171V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331972	NM_016379.4(VCX3A):c.323G>A (p.Ser108Asn)	LOC106029240, VCX3A (S108N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331971	NM_016379.4(VCX3A):c.215C>T (p.Ala72Val)	LOC106029240, VCX3A (A72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331970	NM_016379.4(VCX3A):c.232G>A (p.Asp78Asn)	LOC106029240, VCX3A (D78N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331969	NM_016379.4(VCX3A):c.223G>A (p.Gly75Ser)	LOC106029240, VCX3A (G75S)	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 3242318	GRCh37/hg19 Xp22.31(chrX:6450986-8136530)x3	PNPLA4, PUDP +3 more	Copy number gain	not provided	GUncertain significance
Select item 3242304	GRCh37/hg19 Xp22.31(chrX:6451998-8136170)x1	PNPLA4, PUDP +3 more	Copy number loss	not provided	GPathogenic
Select item 3188399	NM_016379.4(VCX3A):c.83C>T (p.Pro28Leu)	LOC106029240, VCX3A (P28L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188398	NM_016379.4(VCX3A):c.534C>G (p.Ser178Arg)	LOC106029240, VCX3A (S178R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188397	NM_016379.4(VCX3A):c.525T>G (p.Ser175Arg)	LOC106029240, VCX3A (S175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188396	NM_016379.4(VCX3A):c.521T>C (p.Leu174Pro)	LOC106029240, VCX3A (L174P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188395	NM_016379.4(VCX3A):c.511G>A (p.Glu171Lys)	LOC106029240, VCX3A (E171K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188394	NM_016379.4(VCX3A):c.504C>A (p.Ser168Arg)	LOC106029240, VCX3A (S168R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188393	NM_016379.4(VCX3A):c.421G>A (p.Glu141Lys)	LOC106029240, VCX3A (E141K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188392	NM_016379.4(VCX3A):c.368C>T (p.Pro123Leu)	VCX3A, LOC106029240 (P123L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188391	NM_016379.4(VCX3A):c.323G>C (p.Ser108Thr)	LOC106029240, VCX3A (S108T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188390	NM_016379.4(VCX3A):c.322A>G (p.Ser108Gly)	LOC106029240, VCX3A (S108G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188389	NM_016379.4(VCX3A):c.306C>A (p.Asp102Glu)	LOC106029240, VCX3A (D102E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188388	NM_016379.4(VCX3A):c.272C>T (p.Pro91Leu)	LOC106029240, VCX3A (P91L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188387	NM_016379.4(VCX3A):c.190G>A (p.Ala64Thr)	LOC106029240, VCX3A (A64T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188386	NM_016379.4(VCX3A):c.149G>A (p.Arg50His)	LOC106029240, VCX3A (R50H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188385	NM_016379.4(VCX3A):c.118A>C (p.Lys40Gln)	LOC106029240, VCX3A (K40Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148931	GRCh37/hg19 Xp22.31(chrX:6440777-8127580)x3	PNPLA4, PUDP +3 more	Copy number gain	not provided	GUncertain significance
Select item 3148853	GRCh37/hg19 Xp22.31(chrX:6449837-7539155)x2	PUDP, STS +1 more	Copy number gain	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 3062488	GRCh37/hg19 Xp22.33-22.31(chrX:168546-7545375)	ARSD, ARSD-AS1 +11 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 3060492	NM_016379.4(VCX3A):c.*9C>G	LOC106029240, VCX3A	Single nucleotide variant (3 prime UTR variant)	VCX3A-related disorder	GLikely benign
Select item 3058916	NM_016379.4(VCX3A):c.*8G>A	LOC106029240, VCX3A	Single nucleotide variant (3 prime UTR variant)	VCX3A-related disorder	GLikely benign
Select item 3057107	NM_016379.4(VCX3A):c.*2C>T	LOC106029240, VCX3A	Single nucleotide variant (3 prime UTR variant)	VCX3A-related disorder	GLikely benign
Select item 3056669	NM_016379.4(VCX3A):c.15G>C (p.Pro5=)	LOC106029240, VCX3A	Single nucleotide variant (synonymous variant)	VCX3A-related disorder	GLikely benign
Select item 3047456	NM_016379.4(VCX3A):c.288C>T (p.Ser96=)	LOC106029240, VCX3A	Single nucleotide variant (synonymous variant)	VCX3A-related disorder	GLikely benign
Select item 3042675	NM_016379.4(VCX3A):c.93G>A (p.Pro31=)	LOC106029240, VCX3A	Single nucleotide variant (synonymous variant)	VCX3A-related disorder	GLikely benign
Select item 3034320	NM_016379.4(VCX3A):c.222C>A (p.Pro74=)	LOC106029240, VCX3A	Single nucleotide variant (synonymous variant)	VCX3A-related disorder	GLikely benign
Select item 3030020	NM_016379.4(VCX3A):c.249G>A (p.Glu83=)	LOC106029240, VCX3A	Single nucleotide variant (synonymous variant)	VCX3A-related disorder	GLikely benign
Select item 3025092	NM_016379.4(VCX3A):c.474C>T (p.Ser158=)	LOC106029240, VCX3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2659911	NM_016379.4(VCX3A):c.44C>G (p.Thr15Arg)	LOC106029240, VCX3A (T15R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659910	NM_016379.4(VCX3A):c.333G>A (p.Glu111=)	LOC106029240, VCX3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659909	NM_016379.4(VCX3A):c.354C>T (p.Ser118=)	LOC106029240, VCX3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659908	NM_016379.4(VCX3A):c.415G>C (p.Glu139Gln)	LOC106029240, VCX3A (E139Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659907	NM_016379.4(VCX3A):c.538A>G (p.Met180Val)	LOC106029240, VCX3A (M180V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2624087	NM_016379.4(VCX3A):c.485A>G (p.Glu162Gly)	LOC106029240, VCX3A (E162G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615436	NM_016379.4(VCX3A):c.493A>G (p.Ser165Gly)	LOC106029240, VCX3A (S165G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601608	NM_016379.4(VCX3A):c.503G>A (p.Ser168Asn)	LOC106029240, VCX3A (S168N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558741	NM_016379.4(VCX3A):c.127A>G (p.Lys43Glu)	LOC106029240, VCX3A (K43E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553642	NM_016379.4(VCX3A):c.506A>G (p.Gln169Arg)	LOC106029240, VCX3A (Q169R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550185	NM_016379.4(VCX3A):c.55A>G (p.Lys19Glu)	LOC106029240, VCX3A (K19E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544277	NM_016379.4(VCX3A):c.218C>T (p.Ala73Val)	LOC106029240, VCX3A (A73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534016	NM_016379.4(VCX3A):c.193C>G (p.Pro65Ala)	LOC106029240, VCX3A (P65A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516636	NM_016379.4(VCX3A):c.184G>A (p.Val62Met)	LOC106029240, VCX3A (V62M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2499159	GRCh37/hg19 Xp22.31(chrX:6451786-7894160)x0	PNPLA4, PUDP +3 more	Copy number loss	not provided	GPathogenic
Select item 2471625	NM_016379.4(VCX3A):c.502A>G (p.Ser168Gly)	LOC106029240, VCX3A (S168G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464356	NM_016379.4(VCX3A):c.473G>C (p.Ser158Thr)	LOC106029240, VCX3A (S158T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458313	NM_016379.4(VCX3A):c.208G>A (p.Gly70Arg)	LOC106029240, VCX3A (G70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405205	NM_016379.4(VCX3A):c.46G>A (p.Glu16Lys)	LOC106029240, VCX3A (E16K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399232	NM_016379.4(VCX3A):c.497A>G (p.Gln166Arg)	LOC106029240, VCX3A (Q166R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367126	NM_016379.4(VCX3A):c.483G>T (p.Glu161Asp)	LOC106029240, VCX3A (E161D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364156	NM_016379.4(VCX3A):c.173A>G (p.Lys58Arg)	LOC106029240, VCX3A (K58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354449	NM_016379.4(VCX3A):c.139A>G (p.Arg47Gly)	LOC106029240, VCX3A (R47G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2348138	NM_016379.4(VCX3A):c.14C>T (p.Pro5Leu)	LOC106029240, VCX3A (P5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348021	NM_016379.4(VCX3A):c.118A>G (p.Lys40Glu)	LOC106029240, VCX3A (K40E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346127	NM_016379.4(VCX3A):c.137G>A (p.Arg46His)	LOC106029240, VCX3A (R46H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326117	NM_016379.4(VCX3A):c.289G>C (p.Glu97Gln)	LOC106029240, VCX3A (E97Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300296	NM_016379.4(VCX3A):c.18A>C (p.Arg6Ser)	LOC106029240, VCX3A (R6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296427	NM_016379.4(VCX3A):c.355G>A (p.Glu119Lys)	LOC106029240, VCX3A (E119K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292780	NM_016379.4(VCX3A):c.414C>G (p.Ser138Arg)	LOC106029240, VCX3A (S138R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286658	NM_016379.4(VCX3A):c.209G>T (p.Gly70Val)	LOC106029240, VCX3A (G70V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225897	NM_016379.4(VCX3A):c.414C>A (p.Ser138Arg)	LOC106029240, VCX3A (S138R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222248	NM_016379.4(VCX3A):c.493A>T (p.Ser165Cys)	LOC106029240, VCX3A (S165C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220062	NM_016379.4(VCX3A):c.355G>C (p.Glu119Gln)	LOC106029240, VCX3A (E119Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 1807900	GRCh37/hg19 Xp22.33-22.31(chrX:1626596-7832236)x3	ARSD, ARSD-AS1 +12 more	Copy number gain	not provided	GUncertain significance
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 1707431	GRCh37/hg19 Xp22.31(chrX:6448751-8135644)x2	PNPLA4, PUDP +3 more	Copy number gain	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 1341136	GRCh37/hg19 Xp22.31(chrX:6449752-6593566)x3	VCX3A	Copy number gain	not provided	GLikely benign
Select item 1340200	GRCh37/hg19 Xp22.31(chrX:6112444-8257510)x2	NLGN4X, PNPLA4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1328307	NM_016379.4(VCX3A):c.388G>C (p.Val130Leu)	LOC106029240, VCX3A (V130L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 1206081	NM_016379.4(VCX3A):c.505C>G (p.Gln169Glu)	LOC106029240, VCX3A (Q169E)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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