"Ambry Genetics"[submitter] AND "DLL3"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3082923	NM_203486.3(DLL3):c.31T>C (p.Ser11Pro)	DLL3 (S11P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 893094	NM_203486.3(DLL3):c.100A>T (p.Ile34Phe)	DLL3 (I34F)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2517070	NM_203486.3(DLL3):c.119G>A (p.Gly40Asp)	DLL3 (G40D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272316	NM_203486.3(DLL3):c.184G>T (p.Val62Phe)	DLL3 (V62F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281829	NM_203486.3(DLL3):c.319C>T (p.Leu107Phe)	DLL3 (L107F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324523	NM_203486.3(DLL3):c.344C>T (p.Ala115Val)	DLL3 (A115V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3082924	NM_203486.3(DLL3):c.369C>G (p.Ile123Met)	DLL3 (I123M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3082925	NM_203486.3(DLL3):c.415G>A (p.Ala139Thr)	DLL3, LOC130064417 (A139T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217809	NM_203486.3(DLL3):c.431C>T (p.Ala144Val)	DLL3, LOC130064417 (A144V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 894146	NM_203486.3(DLL3):c.478C>T (p.Arg160Trp)	DLL3, LOC130064417 (R160W)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 1, autosomal recessive +3 more	GUncertain significance
Select item 2250283	NM_203486.3(DLL3):c.602G>A (p.Gly201Asp)	DLL3, LOC130064417 (G201D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 501672	NM_203486.3(DLL3):c.616C>G (p.Pro206Ala)	DLL3, LOC130064417 (P206A)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 329233	NM_203486.3(DLL3):c.620G>A (p.Cys207Tyr)	DLL3, LOC130064417 (C207Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2345347	NM_203486.3(DLL3):c.623C>A (p.Ala208Glu)	DLL3, LOC130064417 (A208E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1408625	NM_203486.3(DLL3):c.713G>A (p.Arg238Gln)	DLL3 (R238Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2181555	NM_203486.3(DLL3):c.751C>T (p.Pro251Ser)	DLL3 (P251S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 329234	NM_203486.3(DLL3):c.779C>A (p.Pro260His)	DLL3 (P260H)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 1, autosomal recessive +3 more	GUncertain significance
Select item 2384536	NM_203486.3(DLL3):c.788C>T (p.Pro263Leu)	DLL3 (P263L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3082926	NM_203486.3(DLL3):c.835G>C (p.Asp279His)	DLL3 (D279H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492594	NM_203486.3(DLL3):c.836A>T (p.Asp279Val)	DLL3 (D279V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380818	NM_203486.3(DLL3):c.896C>T (p.Thr299Ile)	DLL3 (T299I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1441209	NM_203486.3(DLL3):c.904C>T (p.Arg302Cys)	DLL3 (R302C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1965999	NM_203486.3(DLL3):c.923G>A (p.Arg308Gln)	DLL3 (R308Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1414309	NM_203486.3(DLL3):c.937G>A (p.Gly313Arg)	DLL3 (G313R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3082917	NM_203486.3(DLL3):c.1030G>A (p.Gly344Ser)	DLL3 (G344S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 289692	NM_203486.3(DLL3):c.1066C>T (p.Arg356Trp)	DLL3 (R356W)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 1, autosomal recessive +3 more	GUncertain significance
Select item 2558354	NM_203486.3(DLL3):c.1073G>A (p.Ser358Asn)	DLL3 (S358N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3082918	NM_203486.3(DLL3):c.1120G>A (p.Ala374Thr)	DLL3 (A374T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3082919	NM_203486.3(DLL3):c.1132C>G (p.Arg378Gly)	DLL3 (R378G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1401812	NM_203486.3(DLL3):c.1171G>A (p.Asp391Asn)	DLL3 (D391N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 894612	NM_203486.3(DLL3):c.1189G>C (p.Gly397Arg)	DLL3 (G397R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2259586	NM_203486.3(DLL3):c.1214C>T (p.Thr405Met)	DLL3, LOC130064418 (T405M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272318	NM_203486.3(DLL3):c.1258G>A (p.Gly420Ser)	DLL3, LOC130064418 (G420S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272317	NM_203486.3(DLL3):c.1294C>A (p.Pro432Thr)	DLL3, LOC130064418 (P432T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1393194	NM_203486.3(DLL3):c.1319A>C (p.His440Pro)	DLL3 (H440P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2533968	NM_203486.3(DLL3):c.1330T>G (p.Cys444Gly)	DLL3 (C444G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1000251	NM_203486.3(DLL3):c.1337C>T (p.Ala446Val)	DLL3 (A446V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2281659	NM_203486.3(DLL3):c.1442C>G (p.Pro481Arg)	DLL3 (P481R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1055474	NM_203486.3(DLL3):c.1483C>T (p.Pro495Ser)	DLL3, LOC130064419 (P495S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2380242	NM_203486.3(DLL3):c.1498C>T (p.Leu500Phe)	LOC130064419, DLL3 (L500F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3082920	NM_203486.3(DLL3):c.1516G>A (p.Ala506Thr)	DLL3, LOC130064419 (A506T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378281	NM_203486.3(DLL3):c.1525G>A (p.Ala509Thr)	DLL3, LOC130064419 (A509T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3082921	NM_203486.3(DLL3):c.1532T>G (p.Leu511Trp)	DLL3, LOC130064419 (L511W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526347	NM_203486.3(DLL3):c.1544T>A (p.Val515Glu)	DLL3, LOC130064419 (V515E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307332	NM_203486.3(DLL3):c.1603C>T (p.Pro535Ser)	DLL3, LOC130064419 (P535S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272315	NM_203486.3(DLL3):c.1694G>A (p.Arg565His)	DLL3 (R565H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1416450	NM_203486.3(DLL3):c.1729A>G (p.Ile577Val)	DLL3 (I577V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 47