"Ambry Genetics"[submitter] AND "DVL3"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1354288	NM_004423.4(DVL3):c.41A>G (p.Glu14Gly)	DVL3 (E14G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2353364	NM_004423.4(DVL3):c.371G>A (p.Gly124Asp)	DVL3 (G124D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3086405	NM_004423.4(DVL3):c.388G>C (p.Asp130His)	DVL3 (D130H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557419	NM_004423.4(DVL3):c.400G>C (p.Glu134Gln)	DVL3 (E134Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086406	NM_004423.4(DVL3):c.446G>A (p.Arg149Lys)	DVL3 (R149K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1596630	NM_004423.4(DVL3):c.457G>C (p.Glu153Gln)	DVL3 (E153Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2482080	NM_004423.4(DVL3):c.466A>T (p.Thr156Ser)	DVL3 (T156S)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 1443235	NM_004423.4(DVL3):c.470G>A (p.Arg157Gln)	DVL3 (R157Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1518953	NM_004423.4(DVL3):c.496C>T (p.Arg166Trp)	DVL3 (R166W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2986157	NM_004423.4(DVL3):c.500G>A (p.Arg167Gln)	DVL3 (R167Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3086407	NM_004423.4(DVL3):c.503G>A (p.Arg168Gln)	DVL3 (R168Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524154	NM_004423.4(DVL3):c.508C>G (p.Pro170Ala)	DVL3 (P170A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1096088	NM_004423.4(DVL3):c.593C>T (p.Thr198Ile)	DVL3 (T198I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3274123	NM_004423.4(DVL3):c.621G>C (p.Gln207His)	DVL3 (Q207H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1522991	NM_004423.4(DVL3):c.651C>A (p.His217Gln)	DVL3 (H217Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2264599	NM_004423.4(DVL3):c.662G>A (p.Arg221Gln)	DVL3 (R221Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1445049	NM_004423.4(DVL3):c.683G>A (p.Arg228Gln)	DVL3 (R228Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 764081	NM_004423.4(DVL3):c.737A>G (p.Asn246Ser)	DVL3 (N246S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2074568	NM_004423.4(DVL3):c.820G>A (p.Gly274Ser)	DVL3 (G274S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2268891	NM_004423.4(DVL3):c.932G>T (p.Ser311Ile)	DVL3 (S311I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507427	NM_004423.4(DVL3):c.989C>T (p.Thr330Ile)	DVL3 (T330I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086401	NM_004423.4(DVL3):c.1024C>T (p.Arg342Cys)	DVL3 (R342C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086402	NM_004423.4(DVL3):c.1025G>A (p.Arg342His)	DVL3 (R342H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555138	NM_004423.4(DVL3):c.1049G>A (p.Ser350Asn)	DVL3 (S350N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2108653	NM_004423.4(DVL3):c.1075G>A (p.Ala359Thr)	DVL3 (A359T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3274125	NM_004423.4(DVL3):c.1104G>A (p.Met368Ile)	DVL3 (M368I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213521	NM_004423.4(DVL3):c.1108G>A (p.Gly370Ser)	DVL3 (G370S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3086403	NM_004423.4(DVL3):c.1238C>G (p.Ala413Gly)	DVL3 (A413G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294240	NM_004423.4(DVL3):c.1516C>T (p.Leu506Phe)	DVL3 (L506F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049029	NM_004423.4(DVL3):c.1530T>G (p.Asp510Glu)	DVL3 (D510E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1491681	NM_004423.4(DVL3):c.1635C>G (p.His545Gln)	DVL3 (H545Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2182048	NM_004423.4(DVL3):c.1645C>T (p.Pro549Ser)	DVL3 (P549S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1934256	NM_004423.4(DVL3):c.1694C>T (p.Ala565Val)	DVL3 (A565V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2308076	NM_004423.4(DVL3):c.1778C>T (p.Ala593Val)	DVL3 (A593V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3274124	NM_004423.4(DVL3):c.1796G>A (p.Gly599Glu)	DVL3 (G599E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086404	NM_004423.4(DVL3):c.1828C>T (p.Arg610Cys)	DVL3 (R610C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2048279	NM_004423.4(DVL3):c.1841G>A (p.Arg614Gln)	DVL3 (R614Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2146942	NM_004423.4(DVL3):c.1843G>A (p.Gly615Arg)	DVL3 (G615R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2303826	NM_004423.4(DVL3):c.1885G>A (p.Ala629Thr)	DVL3 (A629T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2529302	NM_004423.4(DVL3):c.1931T>C (p.Leu644Pro)	DVL3 (L644P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554053	NM_004423.4(DVL3):c.1940A>G (p.His647Arg)	DVL3 (H647R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261330	NM_004423.4(DVL3):c.1949A>G (p.His650Arg)	DVL3 (H650R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250868	NM_004423.4(DVL3):c.1952C>A (p.Pro651Gln)	DVL3 (P651Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274127	NM_004423.4(DVL3):c.2027T>C (p.Met676Thr)	DVL3 (M676T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 44