"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "LOC1268599 - ClinVar - NCBI

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Search results

Items: 12

	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=)	LOC126859913, DLL1	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)	DLL1, LOC126859913 (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 disorder +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)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2657150	NM_005618.4(DLL1):c.1970C>T (p.Ala657Val)	DLL1, LOC126859913 (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