Related gene-specific medical variations for Gene (Select 51480) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 1206227	NM_016378.3(VCX2):c.271C>T (p.Pro91Ser)	LOC106029241, VCX2 (P91S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 816523	GRCh37/hg19 Xp22.31(chrX:7906287-8432715)x2	VCX2	Copy number gain	See cases	GLikely benign
Select item 769172	NM_016378.3(VCX2):c.323G>C (p.Ser108Thr)	LOC106029241, VCX2 (S108T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769171	NM_016378.3(VCX2):c.333A>G (p.Glu111=)	LOC106029241, VCX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 394786	GRCh37/hg19 Xp22.31(chrX:7920725-8151615)x3	VCX2	Copy number gain	See cases	GBenign
Select item 226282	GRCh37/hg19 Xp22.31(chrX:8075662-8148705)	VCX2	Copy number gain	Abnormal esophagus morphology	GBenign

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Links from Gene

Items: 54