DLL4[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 291

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1190192	NC_000015.10:g.40929184G>A	DLL4, LOC130056885	Single nucleotide variant	not provided	GLikely benign
Select item 1193817	NM_019074.4(DLL4):c.-105C>G	DLL4	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1370359	NM_019074.4(DLL4):c.5C>T (p.Ala2Val)	DLL4 (A2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115746	NM_019074.4(DLL4):c.12G>A (p.Ala4=)	DLL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892071	NM_019074.4(DLL4):c.18G>A (p.Arg6=)	DLL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2132934	NM_019074.4(DLL4):c.35C>T (p.Ala12Val)	DLL4 (A12V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1598777	NM_019074.4(DLL4):c.39A>T (p.Leu13=)	DLL4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1356035	NM_019074.4(DLL4):c.55C>T (p.Leu19Phe)	DLL4 (L19F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1462937	NM_019074.4(DLL4):c.59G>T (p.Trp20Leu)	DLL4 (W20L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1210759	NM_019074.4(DLL4):c.66+55C>T	DLL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168604	NM_019074.4(DLL4):c.67-20C>T	DLL4	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1475892	NM_019074.4(DLL4):c.67-10T>C	DLL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1583316	NM_019074.4(DLL4):c.68G>A (p.Arg23His)	DLL4 (R23H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 992895	NM_019074.4(DLL4):c.82G>C (p.Gly28Arg)	DLL4 (G28R)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 6	GLikely pathogenic
Select item 722549	NM_019074.4(DLL4):c.156C>T (p.Pro52=)	DLL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3066222	NM_019074.4(DLL4):c.187A>G (p.Lys63Glu)	DLL4 (K63E)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 6	GLikely pathogenic
Select item 1707857	NM_019074.4(DLL4):c.200C>T (p.Ala67Val)	DLL4 (A67V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1997548	NM_019074.4(DLL4):c.204C>A (p.Val68=)	DLL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2357441	NM_019074.4(DLL4):c.205G>T (p.Val69Phe)	DLL4 (V69F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2790140	NM_019074.4(DLL4):c.233C>A (p.Thr78Asn)	DLL4 (T78N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 523604	NM_019074.4(DLL4):c.265_267del (p.Phe89del)	DLL4 (F89del)	Deletion (inframe_deletion)	Adams-Oliver syndrome 6	GUncertain significance
Select item 2402414	NM_019074.4(DLL4):c.293G>C (p.Gly98Ala)	DLL4 (G98A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2093079	NM_019074.4(DLL4):c.297G>C (p.Gly99=)	DLL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1314310	NM_019074.4(DLL4):c.305C>A (p.Pro102His)	DLL4 (P102H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2186778	NM_019074.4(DLL4):c.315G>A (p.Leu105=)	DLL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3254751	NM_019074.4(DLL4):c.329C>T (p.Thr110Ile)	DLL4 (T110I)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 6	GLikely pathogenic
Select item 1309608	NM_019074.4(DLL4):c.336+6C>T	DLL4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2876913	NM_019074.4(DLL4):c.336+8C>A	DLL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3604819	NM_019074.4(DLL4):c.336+11C>T	DLL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1624428	NM_019074.4(DLL4):c.336+17C>T	DLL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290722	NM_019074.4(DLL4):c.336+173G>C	DLL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1574583	NM_019074.4(DLL4):c.337-20C>T	DLL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 741654	NM_019074.4(DLL4):c.337-10C>T	DLL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1544316	NM_019074.4(DLL4):c.337-6del	DLL4	Deletion (intron variant)	not provided	GLikely benign
Select item 2101441	NM_019074.4(DLL4):c.353del (p.Ile118fs)	DLL4 (I118fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3272322	NM_019074.4(DLL4):c.357C>G (p.Ile119Met)	DLL4 (I119M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 204375	NM_019074.4(DLL4):c.361G>C (p.Ala121Pro)	DLL4 (A121P)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome	GPathogenic
Select item 731630	NM_019074.4(DLL4):c.369C>T (p.His123=)	DLL4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1939365	NM_019074.4(DLL4):c.375A>G (p.Pro125=)	DLL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1412189	NM_019074.4(DLL4):c.381C>A (p.Asp127Glu)	DLL4 (D127E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1345645	NM_019074.4(DLL4):c.382G>A (p.Asp128Asn)	DLL4 (D128N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2552795	NM_019074.4(DLL4):c.384C>A (p.Asp128Glu)	DLL4 (D128E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3640652	NM_019074.4(DLL4):c.392C>G (p.Pro131Arg)	DLL4 (P131R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3607362	NM_019074.4(DLL4):c.393A>G (p.Pro131=)	DLL4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1661332	NM_019074.4(DLL4):c.395-19C>T	DLL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1619405	NM_019074.4(DLL4):c.395-18G>C	DLL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1659625	NM_019074.4(DLL4):c.395-6C>T	DLL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2749790	NM_019074.4(DLL4):c.395-5C>G	DLL4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1609720	NM_019074.4(DLL4):c.398C>A (p.Ala133Asp)	DLL4 (A133D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1432601	NM_019074.4(DLL4):c.430G>A (p.Ala144Thr)	DLL4 (A144T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419323	NM_019074.4(DLL4):c.441C>G (p.Gly147=)	DLL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1100342	NM_019074.4(DLL4):c.469T>C (p.Leu157=)	DLL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1356748	NM_019074.4(DLL4):c.470T>C (p.Leu157Ser)	DLL4 (L157S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3082935	NM_019074.4(DLL4):c.471G>C (p.Leu157Phe)	DLL4 (L157F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1404858	NM_019074.4(DLL4):c.472G>A (p.Asp158Asn)	DLL4 (D158N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1384820	NM_019074.4(DLL4):c.482C>G (p.Thr161Ser)	DLL4 (T161S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1365984	NM_019074.4(DLL4):c.488C>G (p.Thr163Ser)	DLL4 (T163S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645188	NM_019074.4(DLL4):c.490C>T (p.Leu164Phe)	DLL4 (L164F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 737790	NM_019074.4(DLL4):c.499C>T (p.Leu167=)	DLL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844816	NM_019074.4(DLL4):c.507C>T (p.Tyr169=)	DLL4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 734190	NM_019074.4(DLL4):c.516G>C (p.Arg172=)	DLL4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1663291	NM_019074.4(DLL4):c.522C>T (p.Ile174=)	DLL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744447	NM_019074.4(DLL4):c.534C>T (p.Asn178=)	DLL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 204373	NM_019074.4(DLL4):c.556C>T (p.Arg186Cys)	DLL4 (R186C)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome	GPathogenic
Select item 1464693	NM_019074.4(DLL4):c.557G>A (p.Arg186His)	DLL4 (R186H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2630670	NM_019074.4(DLL4):c.572G>A (p.Arg191His)	DLL4 (R191H)	Single nucleotide variant (missense variant)	DLL4-related disorder	GLikely pathogenic
Select item 1940709	NM_019074.4(DLL4):c.576T>C (p.Asn192=)	DLL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742910	NM_019074.4(DLL4):c.582C>T (p.His194=)	DLL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 204376	NM_019074.4(DLL4):c.583T>C (p.Phe195Leu)	DLL4 (F195L)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome	GPathogenic
Select item 2174088	NM_019074.4(DLL4):c.585C>T (p.Phe195=)	DLL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1940943	NM_019074.4(DLL4):c.595G>C (p.Val199Leu)	DLL4 (V199L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1916133	NM_019074.4(DLL4):c.595G>A (p.Val199Met)	DLL4 (V199M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810996	NM_019074.4(DLL4):c.628C>A (p.Pro210Thr)	DLL4 (P210T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1493393	NM_019074.4(DLL4):c.631G>A (p.Gly211Ser)	DLL4 (G211S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307432	NM_019074.4(DLL4):c.647A>G (p.Tyr216Cys)	DLL4 (Y216C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3030780	NM_019074.4(DLL4):c.658+3A>G	DLL4	Single nucleotide variant (intron variant)	DLL4-related disorder	GUncertain significance
Select item 1607387	NM_019074.4(DLL4):c.658+10C>G	DLL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286196	NM_019074.4(DLL4):c.658+160G>A	DLL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281869	NM_019074.4(DLL4):c.659-89G>T	DLL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264929	NM_019074.4(DLL4):c.659-77C>T	DLL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2122026	NM_019074.4(DLL4):c.659-20G>C	DLL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2385918	NM_019074.4(DLL4):c.661A>G (p.Ile221Val)	DLL4 (I221V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1511153	NM_019074.4(DLL4):c.671C>T (p.Ser224Leu)	DLL4 (S224L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 713007	NM_019074.4(DLL4):c.672G>A (p.Ser224=)	DLL4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3082936	NM_019074.4(DLL4):c.682G>C (p.Glu228Gln)	DLL4 (E228Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2153937	NM_019074.4(DLL4):c.704A>C (p.Lys235Thr)	DLL4 (K235T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1571774	NM_019074.4(DLL4):c.708A>C (p.Pro236=)	DLL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880644	NM_019074.4(DLL4):c.714G>T (p.Glu238Asp)	DLL4 (E238D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3611974	NM_019074.4(DLL4):c.719+14A>G	DLL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1929807	NM_019074.4(DLL4):c.720-16C>G	DLL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 722663	NM_019074.4(DLL4):c.720-10T>C	DLL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2005085	NM_019074.4(DLL4):c.720-9G>C	DLL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3663528	NM_019074.4(DLL4):c.720-4C>G	DLL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1499019	NM_019074.4(DLL4):c.742C>T (p.Arg248Trp)	DLL4 (R248W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 708693	NM_019074.4(DLL4):c.743G>A (p.Arg248Gln)	DLL4 (R248Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2046251	NM_019074.4(DLL4):c.753C>T (p.Asn251=)	DLL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1947340	NM_019074.4(DLL4):c.754G>A (p.Glu252Lys)	DLL4 (E252K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 724263	NM_019074.4(DLL4):c.762C>T (p.Ile254=)	DLL4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1903325	NM_019074.4(DLL4):c.782A>G (p.His261Arg)	DLL4 (H261R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320129	NM_019074.4(DLL4):c.784G>A (p.Gly262Ser)	DLL4 (G262S)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 6	GLikely pathogenic

<< First< Prev

Page of 3