"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "DLL1"[gene - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1542633	NM_005618.4(DLL1):c.2167-3del	DLL1, LOC126859913	Deletion (intron variant)	not provided	GBenign/Likely benign
Select item 1639588	NM_005618.4(DLL1):c.2151C>T (p.Cys717=)	DLL1, LOC126859913	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 777173	NM_005618.4(DLL1):c.2133C>T (p.Ser711=)	DLL1, LOC126859913	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 732846	NM_005618.4(DLL1):c.2124C>T (p.Tyr708=)	DLL1, LOC126859913	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1552785	NM_005618.4(DLL1):c.2081C>T (p.Ser694Leu)	LOC126859913, DLL1 (S694L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1679618	NM_005618.4(DLL1):c.2075C>T (p.Pro692Leu)	DLL1, LOC126859913 (P692L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures +1 more	GConflicting classifications of pathogenicity
Select item 2657149	NM_005618.4(DLL1):c.2031C>T (p.Thr677=)	DLL1, LOC126859913	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 751057	NM_005618.4(DLL1):c.2031C>A (p.Thr677=)	DLL1, LOC126859913	Single nucleotide variant (synonymous variant)	DLL1-related condition +1 more	GLikely benign
Select item 800563	NM_005618.4(DLL1):c.2013_2014del (p.Glu673fs)	DLL1, LOC126859913 (E673fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures +1 more	GPathogenic/Likely pathogenic
Select item 1217947	NM_005618.4(DLL1):c.1981C>T (p.Arg661Cys)	DLL1, LOC126859913 (R661C)	Single nucleotide variant (missense variant)	DLL1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2657150	NM_005618.4(DLL1):c.1970C>T (p.Ala657Val)	LOC126859913, DLL1 (A657V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2657151	NM_005618.4(DLL1):c.1950C>T (p.Asp650=)	DLL1, LOC126859913	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2579014	NM_005618.4(DLL1):c.1877_1885del (p.Ser626_Asp628del)	DLL1	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 738806	NM_005618.4(DLL1):c.1881C>T (p.Ala627=)	DLL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1365645	NM_005618.4(DLL1):c.1873C>A (p.His625Asn)	DLL1 (H625N)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 722088	NM_005618.4(DLL1):c.1866C>T (p.His622=)	DLL1	Single nucleotide variant (synonymous variant)	DLL1-related condition +1 more	GLikely benign
Select item 2657152	NM_005618.4(DLL1):c.1859A>G (p.Asp620Gly)	DLL1 (D620G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067272	NM_005618.4(DLL1):c.1856C>T (p.Ala619Val)	DLL1 (A619V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 738615	NM_005618.4(DLL1):c.1833G>A (p.Gln611=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1572361	NM_005618.4(DLL1):c.1829C>T (p.Thr610Met)	DLL1 (T610M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1676052	NM_005618.4(DLL1):c.1822G>A (p.Gly608Arg)	DLL1 (G608R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 235089	NM_005618.4(DLL1):c.1802_1804del (p.Asp601_Ile602delinsVal)	DLL1	Deletion (inframe_indel)	not provided +1 more	GBenign/Likely benign
Select item 2059222	NM_005618.4(DLL1):c.1793G>A (p.Arg598His)	DLL1 (R598H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579015	NM_005618.4(DLL1):c.1775del (p.Asn592fs)	DLL1 (N592fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1584267	NM_005618.4(DLL1):c.1704C>T (p.Cys568=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725883	NM_005618.4(DLL1):c.1650C>T (p.Ala550=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2190174	NM_005618.4(DLL1):c.1641C>T (p.Ala547=)	DLL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 778929	NM_005618.4(DLL1):c.1564G>A (p.Glu522Lys)	DLL1 (E522K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 719437	NM_005618.4(DLL1):c.1563C>T (p.Pro521=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1335655	NM_005618.4(DLL1):c.1558C>T (p.Leu520Phe)	DLL1 (L520F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679791	NM_005618.4(DLL1):c.1551G>C (p.Gln517His)	DLL1 (Q517H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures +1 more	GUncertain significance
Select item 2079255	NM_005618.4(DLL1):c.1533C>T (p.Tyr511=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 800562	NM_005618.4(DLL1):c.1525C>T (p.Arg509Ter)	DLL1 (R509*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures +2 more	GPathogenic
Select item 782106	NM_005618.4(DLL1):c.1518G>A (p.Glu506=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1582693	NM_005618.4(DLL1):c.1516G>A (p.Glu506Lys)	DLL1 (E506K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1504454	NM_005618.4(DLL1):c.1462G>A (p.Ala488Thr)	DLL1 (A488T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 720128	NM_005618.4(DLL1):c.1455C>T (p.Cys485=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2177952	NM_005618.4(DLL1):c.1428G>A (p.Arg476=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1959046	NM_005618.4(DLL1):c.1424G>A (p.Gly475Asp)	DLL1 (G475D)	Single nucleotide variant (missense variant)	DLL1-related condition +1 more	GUncertain significance
Select item 2072207	NM_005618.4(DLL1):c.1421C>T (p.Thr474Met)	DLL1 (T474M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2657153	NM_005618.4(DLL1):c.1362C>T (p.Asn454=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 757389	NM_005618.4(DLL1):c.1352C>T (p.Pro451Leu)	DLL1 (P451L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2042937	NM_005618.4(DLL1):c.1329C>T (p.Asn443=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1979229	NM_005618.4(DLL1):c.1323C>T (p.Asp441=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1695177	NM_005618.4(DLL1):c.1308G>A (p.Ser436=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2583042	NM_005618.4(DLL1):c.1277C>T (p.Ala426Val)	DLL1 (A426V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299059	NM_005618.4(DLL1):c.1221C>T (p.Asp407=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722112	NM_005618.4(DLL1):c.1194C>T (p.Ser398=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2657154	NM_005618.4(DLL1):c.1177T>C (p.Cys393Arg)	DLL1 (C393R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695178	NM_005618.4(DLL1):c.1158T>C (p.Asp386=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1564217	NM_005618.4(DLL1):c.1155C>T (p.Pro385=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2499030	NM_005618.4(DLL1):c.1139G>A (p.Arg380Gln)	DLL1 (R380Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 738971	NM_005618.4(DLL1):c.1131C>T (p.Asn377=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2046070	NM_005618.4(DLL1):c.1116C>T (p.Asp372=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1335656	NM_005618.4(DLL1):c.1077C>T (p.Tyr359=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189902	NM_005618.4(DLL1):c.1038C>T (p.Leu346=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1645981	NM_005618.4(DLL1):c.1033-6G>A	DLL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 778931	NM_005618.4(DLL1):c.1017C>T (p.Asn339=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1534913	NM_005618.4(DLL1):c.991G>A (p.Glu331Lys)	DLL1 (E331K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 735630	NM_005618.4(DLL1):c.978G>A (p.Glu326=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790320	NM_005618.4(DLL1):c.921G>A (p.Thr307=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2167792	NM_005618.4(DLL1):c.862+6C>A	DLL1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2657155	NM_005618.4(DLL1):c.844G>T (p.Gly282Cys)	DLL1 (G282C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 708938	NM_005618.4(DLL1):c.813C>T (p.Pro271=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2571269	NM_005618.4(DLL1):c.768G>A (p.Glu256=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2583043	NM_005618.4(DLL1):c.577dup (p.Arg193fs)	DLL1 (R193fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 721276	NM_005618.4(DLL1):c.573C>T (p.Phe191=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1878299	NM_005618.4(DLL1):c.515A>G (p.Lys172Arg)	DLL1 (K172R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 749608	NM_005618.4(DLL1):c.507G>A (p.Thr169=)	DLL1	Single nucleotide variant (synonymous variant)	DLL1-related condition +1 more	GLikely benign
Select item 3026496	NM_005618.4(DLL1):c.400G>A (p.Asp134Asn)	DLL1 (D134N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2499031	NM_005618.4(DLL1):c.327_351+36del	DLL1	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2657156	NM_005618.4(DLL1):c.207C>T (p.Ala69=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1588204	NM_005618.4(DLL1):c.171G>A (p.Arg57=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657157	NM_005618.4(DLL1):c.153A>C (p.Pro51=)	DLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1335657	NM_005618.4(DLL1):c.55-6G>C	DLL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1695179	NM_005618.4(DLL1):c.54+6_54+13del	DLL1	Deletion (intron variant)	DLL1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3024639	GRCh37/hg19 6q26-27(chr6:162124972-170893669)x1	CEP43, DACT2 +33 more	Copy number loss	not provided	GPathogenic
Select item 2583044	GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1	AFDN, AGPAT4 +37 more	Copy number loss	not provided	GPathogenic
Select item 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	AFDN, AGPAT4 +54 more	Copy number gain	not provided	GUncertain significance
Select item 1711652	GRCh37/hg19 6q26-27(chr6:163836226-170893669)x1	PDCD2, PDE10A +31 more	Copy number loss	not provided	GPathogenic

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Items: 80