Related gene-specific medical variations for Gene (Select 51481) - ClinVar

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Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3188399	NM_001001888.4(VCX3B):c.83C>T (p.Pro28Leu)	LOC106029240, VCX3A (P28L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188398	NM_001001888.4(VCX3B):c.534C>G (p.Ser178Arg)	LOC106029240, VCX3A (S178R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188397	NM_001001888.4(VCX3B):c.525T>G (p.Ser175Arg)	LOC106029240, VCX3A (S175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188396	NM_016379.3:c.521T>C	LOC106029240, VCX3A (L174P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188395	NM_001001888.4(VCX3B):c.511G>A (p.Glu171Lys)	LOC106029240, VCX3A (E171K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188394	NM_001001888.4(VCX3B):c.504C>A (p.Ser168Arg)	LOC106029240, VCX3A (S168R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188393	NM_001001888.4(VCX3B):c.421G>A (p.Glu141Lys)	LOC106029240, VCX3A (E141K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188392	NM_001001888.4(VCX3B):c.368C>T (p.Pro123Leu)	LOC106029240, VCX3A (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_016379.3:c.322A>G	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_001001888.4(VCX3B):c.190G>A (p.Ala64Thr)	LOC106029240, VCX3A (A64T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188386	NM_001001888.4(VCX3B):c.149G>A (p.Arg50His)	LOC106029240, VCX3A (R50H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188385	NM_001001888.4(VCX3B):c.118A>C (p.Lys40Gln)	LOC106029240, VCX3A (K40Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060492	NM_016379.4(VCX3A):c.*9C>G	LOC106029240, VCX3A	Single nucleotide variant (3 prime UTR variant)	VCX3A-related condition	GLikely benign
Select item 3058916	NM_016379.4(VCX3A):c.*8G>A	LOC106029240, VCX3A	Single nucleotide variant (3 prime UTR variant)	VCX3A-related condition	GLikely benign
Select item 3057107	NM_016379.4(VCX3A):c.*2C>T	LOC106029240, VCX3A	Single nucleotide variant (3 prime UTR variant)	VCX3A-related condition	GLikely benign
Select item 3056669	NM_001001888.4(VCX3B):c.15G>C (p.Pro5=)	LOC106029240, VCX3A	Single nucleotide variant (synonymous variant)	VCX3A-related condition	GLikely benign
Select item 3047456	NM_001001888.4(VCX3B):c.288C>T (p.Ser96=)	LOC106029240, VCX3A	Single nucleotide variant (synonymous variant)	VCX3A-related condition	GLikely benign
Select item 3042675	NM_001001888.4(VCX3B):c.93G>A (p.Pro31=)	LOC106029240, VCX3A	Single nucleotide variant (synonymous variant)	VCX3A-related condition	GLikely benign
Select item 3034320	NM_001001888.4(VCX3B):c.222C>A (p.Pro74=)	LOC106029240, VCX3A	Single nucleotide variant (synonymous variant)	VCX3A-related condition	GLikely benign
Select item 3030020	NM_001001888.4(VCX3B):c.249G>A (p.Glu83=)	LOC106029240, VCX3A	Single nucleotide variant (synonymous variant)	VCX3A-related condition	GLikely benign
Select item 3025092	Single allele	LOC106029240, VCX3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659911	NM_001001888.4(VCX3B):c.44A>G (p.Lys15Arg)	LOC106029240, VCX3A (K15R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659910	NM_001001888.4(VCX3B):c.333G>A (p.Glu111=)	LOC106029240, VCX3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659909	NM_001001888.4(VCX3B):c.354C>T (p.Ser118=)	LOC106029240, VCX3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659908	E139Q	LOC106029240, VCX3A (E139Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659907	NM_001001888.4(VCX3B):c.538G= (p.Val180=)	LOC106029240, VCX3A (M180V)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2624087	NM_001001888.4(VCX3B):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_001001888.4(VCX3B):c.503G>A (p.Ser168Asn)	LOC106029240, VCX3A (S168N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558741	NM_016379.3:c.127A>G	LOC106029240, VCX3A (K43E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553642	NM_001001888.4(VCX3B):c.506A>G (p.Glu169Gly)	LOC106029240, VCX3A (E169G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550185	NM_001001888.4(VCX3B):c.55A>G (p.Lys19Glu)	LOC106029240, VCX3A (K19E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544277	NM_001001888.4(VCX3B):c.218C>T (p.Ala73Val)	LOC106029240, VCX3A (A73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534016	NM_001001888.4(VCX3B):c.193C>G (p.Pro65Ala)	LOC106029240, VCX3A (P65A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516636	NM_016379.3:c.184G>A	LOC106029240, VCX3A (V62M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471625	NM_001001888.4(VCX3B):c.502A>G (p.Ser168Gly)	LOC106029240, VCX3A (S168G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464356	NM_001001888.4(VCX3B):c.473G>C (p.Ser158Thr)	LOC106029240, VCX3A (S158T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458313	NM_001001888.4(VCX3B):c.208G>A (p.Gly70Arg)	LOC106029240, VCX3A (G70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405205	NM_001001888.4(VCX3B):c.46G>A (p.Glu16Lys)	LOC106029240, VCX3A (E16K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399232	NM_001001888.4(VCX3B):c.497A>G (p.Gln166Arg)	LOC106029240, VCX3A (Q166R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367126	NM_001001888.4(VCX3B):c.483G>T (p.Glu161Asp)	LOC106029240, VCX3A (E161D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364156	NM_001001888.4(VCX3B):c.173A>G (p.Lys58Arg)	LOC106029240, VCX3A (K58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354449	NM_001001888.4(VCX3B):c.139A>G (p.Arg47Gly)	LOC106029240, VCX3A (R47G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2348138	NM_001001888.4(VCX3B):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_001001888.4(VCX3B):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_001001888.4(VCX3B):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_001001888.4(VCX3B):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_001001888.4(VCX3B):c.414C>A (p.Ser138Arg)	LOC106029240, VCX3A (S138R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222248	NM_001001888.4(VCX3B):c.493A>T (p.Ser165Cys)	LOC106029240, VCX3A (S165C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220062	NM_001001888.4(VCX3B):c.355G>C (p.Glu119Gln)	LOC106029240, VCX3A (E119Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1341136	GRCh37/hg19 Xp22.31(chrX:6449752-6593566)x3	VCX3A	Copy number gain	not provided	GLikely benign
Select item 1328307	NM_016379.4(VCX3A):c.388G>C (p.Val130Leu)	LOC106029240, VCX3A (V130L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1206081	NM_016379.4(VCX3A):c.505C>G (p.Gln169Glu)	LOC106029240, VCX3A (Q169E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 594234	NM_016379.4(VCX3A):c.417G>C (p.Glu139Asp)	LOC106029240, VCX3A (E139D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 395665	GRCh37/hg19 Xp22.31(chrX:6453036-6507660)x3	VCX3A	Copy number gain	See cases	GBenign
Select item 395414	GRCh37/hg19 Xp22.31(chrX:6453036-6653705)x3	VCX3A	Copy number gain	See cases	GBenign
Select item 395241	GRCh37/hg19 Xp22.31(chrX:6453036-6570937)x3	VCX3A	Copy number gain	See cases	GBenign
Select item 395151	GRCh37/hg19 Xp22.31(chrX:6453036-6844519)x3	VCX3A	Copy number gain	See cases	GLikely benign
Select item 252705	NM_016379.4(VCX3A):c.478G>A (p.Val160Met)	LOC106029240, VCX3A (V160M)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 218737	NM_016379.4(VCX3A):c.461T>C (p.Leu154Pro)	VCX3A, LOC106029240 (L154P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 218736	NM_016379.4(VCX3A):c.418G>A (p.Val140Met)	LOC106029240, VCX3A (V140M)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 218735	NM_016379.4(VCX3A):c.385C>G (p.Gln129Glu)	LOC106029240, VCX3A (Q129E)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 150086	GRCh38/hg38 Xp22.31(chrX:6534640-6535067)x3	LOC106029240, VCX3A	Copy number gain	See cases	GLikely benign

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Links from Gene

Items: 70