Related gene-specific medical variations for Gene (Select 340706) - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3350646	NM_001272046.2(VWA2):c.1071C>T (p.Asp357=)	AFAP1L2, VWA2	Single nucleotide variant (synonymous variant)	VWA2-related disorder	GLikely benign
Select item 3067187	NM_001272046.2(VWA2):c.2204G>A (p.Arg735His)	AFAP1L2, VWA2 (R735H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3060525	NM_001272046.2(VWA2):c.1870G>A (p.Val624Ile)	AFAP1L2, VWA2 (V624I)	Single nucleotide variant (missense variant)	VWA2-related disorder	GUncertain significance
Select item 3058012	NM_001272046.2(VWA2):c.1246C>T (p.Arg416Cys)	AFAP1L2, VWA2 (R416C)	Single nucleotide variant (missense variant)	VWA2-related disorder	GLikely benign
Select item 3056283	NM_001272046.2(VWA2):c.1554C>T (p.Cys518=)	AFAP1L2, VWA2	Single nucleotide variant (synonymous variant)	VWA2-related disorder	GLikely benign
Select item 3051730	NM_001272046.2(VWA2):c.948C>T (p.Asp316=)	AFAP1L2, VWA2	Single nucleotide variant (synonymous variant)	VWA2-related disorder	GLikely benign
Select item 3051444	NM_001272046.2(VWA2):c.1116C>T (p.Ala372=)	AFAP1L2, VWA2	Single nucleotide variant (synonymous variant)	VWA2-related disorder	GLikely benign
Select item 3049868	NM_001272046.2(VWA2):c.1366C>T (p.His456Tyr)	AFAP1L2, VWA2 (H456Y)	Single nucleotide variant (missense variant)	VWA2-related disorder	GBenign
Select item 3046717	NM_001272046.2(VWA2):c.1293G>C (p.Glu431Asp)	AFAP1L2, VWA2 (E431D)	Single nucleotide variant (missense variant)	VWA2-related disorder	GLikely benign
Select item 3046505	NM_001272046.2(VWA2):c.1307G>T (p.Ser436Ile)	AFAP1L2, VWA2 (S436I)	Single nucleotide variant (missense variant)	VWA2-related disorder	GUncertain significance
Select item 3046160	NM_001272046.2(VWA2):c.1708G>T (p.Val570Phe)	AFAP1L2, VWA2 (V570F)	Single nucleotide variant (missense variant)	VWA2-related disorder	GLikely benign
Select item 3045576	NM_001272046.2(VWA2):c.1253G>A (p.Gly418Asp)	AFAP1L2, VWA2 (G418D)	Single nucleotide variant (missense variant)	VWA2-related disorder	GUncertain significance
Select item 3041109	NM_001272046.2(VWA2):c.1395G>A (p.Ala465=)	AFAP1L2, VWA2	Single nucleotide variant (synonymous variant)	VWA2-related disorder	GLikely benign
Select item 3039596	NM_001272046.2(VWA2):c.1924G>A (p.Gly642Arg)	AFAP1L2, VWA2 (G642R)	Single nucleotide variant (missense variant)	VWA2-related disorder	GBenign
Select item 3037467	NM_001272046.2(VWA2):c.2027_2035dup (p.Leu678_Ala679insGlyArgLeu)	AFAP1L2, VWA2	Duplication	not provided	GLikely benign
Select item 3036976	NM_001272046.2(VWA2):c.1365A>C (p.Ser455=)	AFAP1L2, VWA2	Single nucleotide variant (synonymous variant)	VWA2-related disorder	GLikely benign
Select item 3032392	NM_001272046.2(VWA2):c.1778C>T (p.Ala593Val)	AFAP1L2, VWA2 (A593V)	Single nucleotide variant (missense variant)	VWA2-related disorder	GUncertain significance
Select item 3031073	NM_001272046.2(VWA2):c.1500C>T (p.Tyr500=)	AFAP1L2, VWA2	Single nucleotide variant (synonymous variant)	VWA2-related disorder	GLikely benign
Select item 3029315	NM_001272046.2(VWA2):c.1549C>T (p.Leu517=)	AFAP1L2, VWA2	Single nucleotide variant (synonymous variant)	VWA2-related disorder	GLikely benign
Select item 2672418	NM_001272046.2(VWA2):c.2143C>T (p.Leu715Phe)	AFAP1L2, VWA2 (L715F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2640861	NM_001272046.2(VWA2):c.1293G>A (p.Glu431=)	AFAP1L2, VWA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635809	NM_001272046.2(VWA2):c.1112G>A (p.Arg371Gln)	AFAP1L2, VWA2 (R371Q)	Single nucleotide variant (missense variant)	VWA2-related disorder	GUncertain significance
Select item 2635682	NM_001272046.2(VWA2):c.959G>A (p.Cys320Tyr)	AFAP1L2, VWA2 (C320Y)	Single nucleotide variant (missense variant)	VWA2-related disorder	GUncertain significance
Select item 785330	NM_001272046.2(VWA2):c.1486C>T (p.His496Tyr)	AFAP1L2, VWA2 (H496Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780912	NM_001272046.2(VWA2):c.1447G>A (p.Val483Met)	AFAP1L2, VWA2 (V483M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780141	NM_001272046.2(VWA2):c.2182G>C (p.Val728Leu)	AFAP1L2, VWA2 (V728L)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 778416	NM_001272046.2(VWA2):c.1095C>T (p.Phe365=)	AFAP1L2, VWA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 774687	NM_001272046.2(VWA2):c.1096G>A (p.Val366Met)	AFAP1L2, VWA2 (V366M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 774564	NM_001272046.2(VWA2):c.2044C>T (p.Arg682Trp)	AFAP1L2, VWA2 (R682W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769373	NM_001272046.2(VWA2):c.1056G>A (p.Ala352=)	AFAP1L2, VWA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769372	NM_001272046.2(VWA2):c.993C>T (p.Asn331=)	AFAP1L2, VWA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 747819	NM_001272046.2(VWA2):c.1923C>G (p.Gly641=)	AFAP1L2, VWA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729720	NM_001272046.2(VWA2):c.1771C>T (p.Arg591Trp)	AFAP1L2, VWA2 (R591W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 725234	NM_001272046.2(VWA2):c.1882G>T (p.Ala628Ser)	AFAP1L2, VWA2 (A628S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 716934	NM_001272046.2(VWA2):c.1933G>A (p.Ala645Thr)	AFAP1L2, VWA2 (A645T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 716164	NM_001272046.2(VWA2):c.1632C>T (p.Pro544=)	AFAP1L2, VWA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 714488	NM_001272046.2(VWA2):c.2073C>T (p.Tyr691=)	AFAP1L2, VWA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712383	NM_001272046.2(VWA2):c.998-4G>A	AFAP1L2, VWA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 709107	NM_001272046.2(VWA2):c.1360del (p.Glu454fs)	AFAP1L2, VWA2 (E454fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 684663	NM_001272046.2(VWA2):c.1336C>T (p.Arg446Cys)	AFAP1L2, VWA2 (R446C)	Single nucleotide variant (missense variant)	Vesicoureteral reflux	GLikely pathogenic

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Items: 40