"DLL1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2637114	NM_005618.4(DLL1):c.2125G>T (p.Val709Phe)	DLL1, LOC126859913 (V709F)	Single nucleotide variant (missense variant)	DLL1-related disorder	GUncertain significance
Select item 2419959	NM_005618.4(DLL1):c.2125G>A (p.Val709Ile)	DLL1, LOC126859913 (V709I)	Single nucleotide variant (missense variant)	DLL1-related disorder +1 more	GLikely benign
Select item 712643	NM_005618.4(DLL1):c.2076G>A (p.Pro692=)	DLL1, LOC126859913	Single nucleotide variant (synonymous variant)	DLL1-related disorder +1 more	GBenign/Likely 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 3028944	NM_005618.4(DLL1):c.2006G>C (p.Gly669Ala)	DLL1, LOC126859913 (G669A)	Single nucleotide variant (missense variant)	DLL1-related disorder	GUncertain significance
Select item 3031554	NM_005618.4(DLL1):c.2001C>G (p.Pro667=)	DLL1, LOC126859913	Single nucleotide variant (synonymous variant)	DLL1-related disorder	GLikely benign
Select item 1217947	NM_005618.4(DLL1):c.1981C>T (p.Arg661Cys)	DLL1, LOC126859913 (R661C)	Single nucleotide variant (missense variant)	DLL1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2732397	NM_005618.4(DLL1):c.1929C>T (p.Leu643=)	DLL1	Single nucleotide variant (synonymous variant)	DLL1-related disorder +1 more	GLikely benign
Select item 738806	NM_005618.4(DLL1):c.1881C>T (p.Ala627=)	DLL1	Single nucleotide variant (synonymous variant)	DLL1-related disorder +1 more	GLikely benign
Select item 2729382	NM_005618.4(DLL1):c.1878C>T (p.Ser626=)	DLL1	Single nucleotide variant (synonymous variant)	DLL1-related disorder +1 more	GLikely benign
Select item 722088	NM_005618.4(DLL1):c.1866C>T (p.His622=)	DLL1	Single nucleotide variant (synonymous variant)	DLL1-related disorder +1 more	GLikely benign
Select item 2169453	NM_005618.4(DLL1):c.1821C>T (p.Ile607=)	DLL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 235089	NM_005618.4(DLL1):c.1802_1804del (p.Asp601_Ile602delinsVal)	DLL1	Deletion (inframe_indel)	DLL1-related disorder +1 more	GBenign/Likely benign
Select item 2143496	NM_005618.4(DLL1):c.1760C>T (p.Thr587Met)	DLL1 (T587M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 1582693	NM_005618.4(DLL1):c.1516G>A (p.Glu506Lys)	DLL1 (E506K)	Single nucleotide variant (missense variant)	DLL1-related disorder +1 more	GBenign/Likely benign
Select item 3043889	NM_005618.4(DLL1):c.1494G>A (p.Glu498=)	DLL1	Single nucleotide variant (synonymous variant)	DLL1-related disorder	GLikely benign
Select item 1959046	NM_005618.4(DLL1):c.1424G>A (p.Gly475Asp)	DLL1 (G475D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3040225	NM_005618.4(DLL1):c.1356C>T (p.Cys452=)	DLL1	Single nucleotide variant (synonymous variant)	DLL1-related disorder	GLikely benign
Select item 2964229	NM_005618.4(DLL1):c.1353G>A (p.Pro451=)	DLL1	Single nucleotide variant (synonymous variant)	DLL1-related disorder +1 more	GLikely benign
Select item 787845	NM_005618.4(DLL1):c.1342G>A (p.Ala448Thr)	DLL1 (A448T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3029635	NM_005618.4(DLL1):c.1249+9G>A	DLL1	Single nucleotide variant (intron variant)	DLL1-related disorder	GLikely benign
Select item 3036909	NM_005618.4(DLL1):c.1107C>T (p.Thr369=)	DLL1	Single nucleotide variant (synonymous variant)	DLL1-related disorder	GLikely benign
Select item 3058665	NM_005618.4(DLL1):c.975C>A (p.Cys325Ter)	DLL1 (C325*)	Single nucleotide variant (nonsense)	DLL1-related disorder	GLikely pathogenic
Select item 2633012	NM_005618.4(DLL1):c.782C>T (p.Pro261Leu)	DLL1 (P261L)	Single nucleotide variant (missense variant)	DLL1-related disorder	GUncertain significance
Select item 1646346	NM_005618.4(DLL1):c.613G>A (p.Gly205Arg)	DLL1 (G205R)	Single nucleotide variant (missense variant)	DLL1-related disorder +1 more	GBenign/Likely benign
Select item 749608	NM_005618.4(DLL1):c.507G>A (p.Thr169=)	DLL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2632490	NM_005618.4(DLL1):c.453dup (p.His152fs)	DLL1 (H152fs)	Duplication (frameshift variant)	DLL1-related disorder	GLikely pathogenic
Select item 2193606	NM_005618.4(DLL1):c.351G>C (p.Pro117=)	DLL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 1208106	NM_005618.4(DLL1):c.303C>A (p.Asp101Glu)	DLL1 (D101E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3033045	NM_005618.4(DLL1):c.285C>T (p.Pro95=)	DLL1	Single nucleotide variant (synonymous variant)	DLL1-related disorder	GLikely benign
Select item 2172121	NM_005618.4(DLL1):c.283C>T (p.Pro95Ser)	DLL1 (P95S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1695179	NM_005618.4(DLL1):c.54+6_54+13del	DLL1	Deletion (intron variant)	DLL1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3051756	NM_005618.4(DLL1):c.-9C>A	DLL1	Single nucleotide variant (5 prime UTR variant)	DLL1-related disorder	GLikely benign

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Items: 34