ClinVar for Gene (Select 10683) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3368657	NM_203486.3(DLL3):c.415G>T (p.Ala139Ser)	DLL3, LOC130064417 (A139S)	Single nucleotide variant (missense variant)	not provided	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 3272316	NM_203486.3(DLL3):c.184G>T (p.Val62Phe)	DLL3 (V62F)	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 3251782	NM_203486.3(DLL3):c.517T>C (p.Ser173Pro)	DLL3, LOC130064417 (S173P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250939	NM_203486.3(DLL3):c.1379T>A (p.Met460Lys)	DLL3 (M460K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3242703	NC_000019.9:g.(?_39989615)_(39991332_?)del	DLL3	Deletion	not provided	GPathogenic
Select item 3242702	NC_000019.9:g.(?_39989615)_(39998653_?)del	DLL3	Deletion	not provided	GPathogenic
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 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 3082924	NM_203486.3(DLL3):c.369C>G (p.Ile123Met)	DLL3 (I123M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 3082919	NM_203486.3(DLL3):c.1132C>G (p.Arg378Gly)	DLL3 (R378G)	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 3082917	NM_203486.3(DLL3):c.1030G>A (p.Gly344Ser)	DLL3 (G344S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065801	NM_203486.3(DLL3):c.474G>A (p.Trp158Ter)	DLL3, LOC130064417 (W158*)	Single nucleotide variant (nonsense)	Spondylocostal dysostosis 1, autosomal recessive	GLikely pathogenic
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 3053957	NM_203486.3(DLL3):c.1354G>A (p.Val452Ile)	DLL3 (V452I)	Single nucleotide variant (missense variant)	DLL3-related disorder	GLikely benign
Select item 3035099	NM_203486.3(DLL3):c.1449C>G (p.Leu483=)	DLL3	Single nucleotide variant (synonymous variant)	DLL3-related disorder	GLikely benign
Select item 3023590	NM_203486.3(DLL3):c.653-18C>T	DLL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021612	NM_203486.3(DLL3):c.1629A>G (p.Ala543=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020895	NM_203486.3(DLL3):c.409+7G>A	DLL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020631	NM_203486.3(DLL3):c.1078C>T (p.Gln360Ter)	DLL3 (Q360*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3016088	NM_203486.3(DLL3):c.414C>T (p.Pro138=)	DLL3, LOC130064417	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015954	NM_203486.3(DLL3):c.409+20G>C	DLL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015095	NM_203486.3(DLL3):c.1401A>C (p.Pro467=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014391	NM_203486.3(DLL3):c.462C>T (p.Ala154=)	DLL3, LOC130064417	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014127	NM_203486.3(DLL3):c.1673+12C>T	DLL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013138	NM_203486.3(DLL3):c.157C>A (p.Arg53=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011927	NM_203486.3(DLL3):c.352-20C>T	DLL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011905	NM_203486.3(DLL3):c.1251C>T (p.Cys417=)	DLL3, LOC130064418	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011194	NM_203486.3(DLL3):c.1518C>T (p.Ala506=)	DLL3, LOC130064419	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011020	NM_203486.3(DLL3):c.555C>A (p.Thr185=)	DLL3, LOC130064417	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010515	NM_203486.3(DLL3):c.1422C>T (p.Ser474=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009025	NM_203486.3(DLL3):c.1125G>A (p.Leu375=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007475	NM_203486.3(DLL3):c.1179C>T (p.Asp393=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006412	NM_203486.3(DLL3):c.1674-9C>G	DLL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005894	NM_203486.3(DLL3):c.1158T>G (p.Pro386=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005649	NM_203486.3(DLL3):c.630C>G (p.Leu210=)	DLL3, LOC130064417	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004781	NM_203486.3(DLL3):c.352-6A>G	DLL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004547	NM_203486.3(DLL3):c.189C>T (p.Cys63=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004348	NM_203486.3(DLL3):c.1174C>T (p.Leu392=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002344	NM_203486.3(DLL3):c.373G>T (p.Glu125Ter)	DLL3 (E125*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3000908	NM_203486.3(DLL3):c.1299C>T (p.Cys433=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998851	NM_203486.3(DLL3):c.454T>C (p.Leu152=)	DLL3, LOC130064417	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998084	NM_203486.3(DLL3):c.1620C>T (p.Leu540=)	DLL3, LOC130064419	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998046	NM_203486.3(DLL3):c.1230C>T (p.Gly410=)	DLL3, LOC130064418	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997552	NM_203486.3(DLL3):c.501C>T (p.Ala167=)	DLL3, LOC130064417	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995929	NM_203486.3(DLL3):c.1191C>T (p.Gly397=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995884	NM_203486.3(DLL3):c.1698T>C (p.Pro566=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993416	NM_203486.3(DLL3):c.1230C>A (p.Gly410=)	DLL3, LOC130064418	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992971	NM_203486.3(DLL3):c.705T>C (p.Gly235=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992159	NM_203486.3(DLL3):c.15G>A (p.Arg5=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991336	NM_203486.3(DLL3):c.1107G>A (p.Leu369=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990176	NM_203486.3(DLL3):c.1437C>T (p.Ala479=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990093	NM_203486.3(DLL3):c.1413C>T (p.Asp471=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990028	NM_203486.3(DLL3):c.246G>C (p.Ala82=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989643	NM_203486.3(DLL3):c.70-5C>G	DLL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986928	NM_203486.3(DLL3):c.114G>T (p.Gly38=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985882	NM_203486.3(DLL3):c.1416C>T (p.Gly472=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981970	NM_203486.3(DLL3):c.444C>T (p.Gly148=)	DLL3, LOC130064417	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981489	NM_203486.3(DLL3):c.1094-16G>T	DLL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978414	NM_203486.3(DLL3):c.652+8C>T	DLL3, LOC130064417	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976876	NM_203486.3(DLL3):c.1008C>T (p.Ala336=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976430	NM_203486.3(DLL3):c.1472_1473delinsGA (p.Tyr491Ter)	DLL3 (Y491*)	Indel (nonsense)	not provided	GPathogenic
Select item 2976149	NM_203486.3(DLL3):c.1167G>A (p.Glu389=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974997	NM_203486.3(DLL3):c.9C>G (p.Ser3=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970870	NM_203486.3(DLL3):c.1094-18A>T	DLL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970402	NM_203486.3(DLL3):c.1317T>C (p.Ala439=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970358	NM_203486.3(DLL3):c.1758+18C>T	DLL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2968795	NM_203486.3(DLL3):c.681G>A (p.Glu227=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968349	NM_203486.3(DLL3):c.1245C>G (p.Cys415Trp)	DLL3, LOC130064418 (C415W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965461	NM_203486.3(DLL3):c.948T>C (p.Cys316=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963317	NM_203486.3(DLL3):c.1758+12C>A	DLL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2962237	NM_203486.3(DLL3):c.519G>T (p.Ser173=)	DLL3, LOC130064417	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960354	NM_203486.3(DLL3):c.652+9T>C	DLL3, LOC130064417	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959816	NM_203486.3(DLL3):c.1287C>G (p.Arg429=)	DLL3, LOC130064418	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959496	NM_203486.3(DLL3):c.789G>A (p.Pro263=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959072	NM_203486.3(DLL3):c.273C>T (p.Thr91=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958969	NM_203486.3(DLL3):c.1551C>T (p.Arg517=)	DLL3, LOC130064419	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958779	NM_203486.3(DLL3):c.325C>T (p.Gln109Ter)	DLL3 (Q109*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2958392	NM_203486.3(DLL3):c.1104C>T (p.Cys368=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956796	NM_203486.3(DLL3):c.1093+20A>T	DLL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955518	NM_203486.3(DLL3):c.1095C>A (p.Gly365=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954613	NM_203486.3(DLL3):c.1113G>T (p.Leu371=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919779	NM_203486.3(DLL3):c.1255C>T (p.Leu419=)	DLL3, LOC130064418	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919568	NM_203486.3(DLL3):c.211G>T (p.Glu71Ter)	DLL3 (E71*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2908677	NM_203486.3(DLL3):c.1673+7G>T	DLL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908637	NM_203486.3(DLL3):c.1296G>A (p.Pro432=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908206	NM_203486.3(DLL3):c.264G>A (p.Pro88=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907720	NM_203486.3(DLL3):c.822G>A (p.Gly274=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907613	NM_203486.3(DLL3):c.246G>T (p.Ala82=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906860	NM_203486.3(DLL3):c.1143C>G (p.Ala381=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906830	NM_203486.3(DLL3):c.307C>T (p.Leu103=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904644	NM_203486.3(DLL3):c.1470C>A (p.Arg490=)	DLL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900887	NM_203486.3(DLL3):c.1758+21C>G	DLL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2900682	NM_203486.3(DLL3):c.1758+87G>A	DLL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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