Related gene-specific medical variations for Gene (Select 28514) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382651	NM_005618.4(DLL1):c.883del (p.His295fs)	DLL1 (H295fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GPathogenic
Select item 3382046	NM_005618.4(DLL1):c.845G>T (p.Gly282Val)	DLL1 (G282V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GUncertain significance
Select item 3366304	NM_005618.4(DLL1):c.1480del (p.Ala494fs)	DLL1 (A494fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3364479	NM_005618.4(DLL1):c.1952A>T (p.Asp651Val)	DLL1, LOC126859913 (D651V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361548	NM_005618.4(DLL1):c.577C>T (p.Arg193Cys)	DLL1 (R193C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359007	NM_005618.4(DLL1):c.552C>G (p.Tyr184Ter)	DLL1 (Y184*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GPathogenic
Select item 3246193	NC_000006.11:g.(?_170589990)_(170599227_?)dup	DLL1	Duplication	not provided	GUncertain significance
Select item 3246192	NC_000006.11:g.(?_170589990)_(170599227_?)del	DLL1	Deletion	not provided	GPathogenic
Select item 3236650	NM_005618.4(DLL1):c.76G>A (p.Glu26Lys)	DLL1 (E26K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 3082908	NM_005618.4(DLL1):c.2150G>A (p.Cys717Tyr)	DLL1, LOC126859913 (C717Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068130	NM_005618.4(DLL1):c.73T>C (p.Phe25Leu)	DLL1 (F25L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GUncertain significance
Select item 3065912	NM_005618.4(DLL1):c.1492G>A (p.Glu498Lys)	DLL1 (E498K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	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 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 3001663	NM_005618.4(DLL1):c.2044A>G (p.Arg682Gly)	DLL1, LOC126859913 (R682G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992632	NM_005618.4(DLL1):c.2051G>C (p.Gly684Ala)	DLL1, LOC126859913 (G684A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969612	NM_005618.4(DLL1):c.2034G>A (p.Pro678=)	DLL1, LOC126859913	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955148	NM_005618.4(DLL1):c.2049-16T>C	DLL1, LOC126859913	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907626	NM_005618.4(DLL1):c.2076G>T (p.Pro692=)	DLL1, LOC126859913	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887739	NM_005618.4(DLL1):c.1969G>A (p.Ala657Thr)	DLL1, LOC126859913 (A657T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2885191	NM_005618.4(DLL1):c.2148G>C (p.Glu716Asp)	DLL1, LOC126859913 (E716D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2871737	NM_005618.4(DLL1):c.2039C>A (p.Thr680Lys)	DLL1, LOC126859913 (T680K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2840257	NM_005618.4(DLL1):c.1998G>T (p.Gln666His)	DLL1, LOC126859913 (Q666H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2793353	NM_005618.4(DLL1):c.1981C>A (p.Arg661Ser)	DLL1, LOC126859913 (R661S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781242	NM_005618.4(DLL1):c.2001C>T (p.Pro667=)	DLL1, LOC126859913	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747068	NM_005618.4(DLL1):c.2143G>A (p.Asp715Asn)	DLL1, LOC126859913 (D715N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700564	NM_005618.4(DLL1):c.1985A>G (p.Asp662Gly)	DLL1, LOC126859913 (D662G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700159	NM_005618.4(DLL1):c.2049-17C>A	DLL1, LOC126859913	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2688944	NM_005618.4(DLL1):c.140G>A (p.Gly47Glu)	DLL1 (G47E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GUncertain significance
Select item 2688943	NM_005618.4(DLL1):c.1988C>T (p.Thr663Ile)	DLL1, LOC126859913 (T663I)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GUncertain significance
Select item 2688942	NM_005618.4(DLL1):c.2131T>C (p.Ser711Pro)	DLL1, LOC126859913 (S711P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GUncertain significance
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 2657150	NM_005618.4(DLL1):c.1970C>T (p.Ala657Val)	DLL1, LOC126859913 (A657V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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 2605370	NM_005618.4(DLL1):c.2026G>C (p.Gly676Arg)	DLL1, LOC126859913 (G676R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582420	NM_005618.4(DLL1):c.541G>A (p.Glu181Lys)	DLL1 (E181K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GUncertain significance
Select item 2545079	NM_005618.4(DLL1):c.2000C>A (p.Pro667His)	DLL1, LOC126859913 (P667H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532774	NM_005618.4(DLL1):c.1973A>G (p.His658Arg)	DLL1, LOC126859913 (H658R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504541	NM_005618.4(DLL1):c.2066_2069del (p.Arg689fs)	DLL1, LOC126859913 (R689fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2500147	NM_005618.4(DLL1):c.2134G>T (p.Glu712Ter)	DLL1, LOC126859913 (E712*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GUncertain significance
Select item 2443996	NM_005618.4(DLL1):c.351+1G>T	DLL1	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GPathogenic
Select item 2442177	NM_005618.4(DLL1):c.413-3T>G	DLL1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GUncertain significance
Select item 2441870	NM_005618.4(DLL1):c.788G>A (p.Cys263Tyr)	DLL1 (C263Y)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GUncertain significance
Select item 2440811	NM_005618.4(DLL1):c.1508A>G (p.Tyr503Cys)	DLL1 (Y503C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GUncertain significance
Select item 2440809	NM_005618.4(DLL1):c.218C>T (p.Pro73Leu)	DLL1 (P73L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GUncertain significance
Select item 2419959	NM_005618.4(DLL1):c.2125G>A (p.Val709Ile)	DLL1, LOC126859913 (V709I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2415911	NM_005618.4(DLL1):c.2167-8C>T	DLL1, LOC126859913	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2185014	NM_005618.4(DLL1):c.1956C>T (p.Thr652=)	DLL1, LOC126859913	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2160196	NM_005618.4(DLL1):c.1957G>A (p.Ala653Thr)	DLL1, LOC126859913 (A653T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2083585	NM_005618.4(DLL1):c.2033C>T (p.Pro678Leu)	DLL1, LOC126859913 (P678L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070237	NM_005618.4(DLL1):c.1951G>A (p.Asp651Asn)	DLL1, LOC126859913 (D651N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2064099	NM_005618.4(DLL1):c.1960G>A (p.Val654Ile)	DLL1, LOC126859913 (V654I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1996302	NM_005618.4(DLL1):c.2024A>G (p.Lys675Arg)	DLL1, LOC126859913 (K675R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992340	NM_005618.4(DLL1):c.235T>G (p.Tyr79Asp)	DLL1 (Y79D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 1992084	NM_005618.4(DLL1):c.2152G>A (p.Val718Ile)	DLL1, LOC126859913 (V718I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978101	NM_005618.4(DLL1):c.2045G>C (p.Arg682Thr)	DLL1, LOC126859913 (R682T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1964222	NM_005618.4(DLL1):c.1943A>T (p.Lys648Met)	DLL1, LOC126859913 (K648M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1954420	NM_005618.4(DLL1):c.1974C>T (p.His658=)	DLL1, LOC126859913	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1952626	NM_005618.4(DLL1):c.2167-7C>T	DLL1, LOC126859913	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1947722	NM_005618.4(DLL1):c.2048+17G>A	DLL1, LOC126859913	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1933006	NM_005618.4(DLL1):c.2048+12G>A	DLL1, LOC126859913	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925216	NM_005618.4(DLL1):c.2022G>C (p.Glu674Asp)	DLL1, LOC126859913 (E674D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919366	NM_005618.4(DLL1):c.2166+20G>A	DLL1, LOC126859913	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1806673	NM_005618.4(DLL1):c.1968C>G (p.Asp656Glu)	DLL1, LOC126859913 (D656E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1720797	NM_005618.4(DLL1):c.2074C>G (p.Pro692Ala)	DLL1, LOC126859913 (P692A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1718591	NM_005618.4(DLL1):c.2116T>C (p.Ser706Pro)	DLL1, LOC126859913 (S706P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704851	NM_005618.4(DLL1):c.2008T>C (p.Ser670Pro)	DLL1, LOC126859913 (S670P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700086	NM_005618.4(DLL1):c.386_387del (p.Thr129fs)	DLL1 (T129fs)	Microsatellite (frameshift variant)	Neurodevelopmental delay	GPathogenic
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 1676438	NM_005618.4(DLL1):c.76G>T (p.Glu26Ter)	DLL1 (E26*)	Single nucleotide variant	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 1653252	NM_005618.4(DLL1):c.2166+19C>T	DLL1, LOC126859913	Single nucleotide variant (intron variant)	not provided	GBenign
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 1552785	NM_005618.4(DLL1):c.2081C>T (p.Ser694Leu)	DLL1, LOC126859913 (S694L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1542633	NM_005618.4(DLL1):c.2167-3del	DLL1, LOC126859913	Deletion (intron variant)	not provided	GBenign/Likely benign
Select item 1446977	NM_005618.4(DLL1):c.2019G>A (p.Glu673=)	DLL1, LOC126859913	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1402132	NM_005618.4(DLL1):c.2048+4C>T	DLL1, LOC126859913	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1319865	NM_005618.4(DLL1):c.461_462del (p.Thr154fs)	DLL1 (T154fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1305879	NM_005618.4(DLL1):c.2048+2T>C	DLL1, LOC126859913	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1298343	NM_005618.4(DLL1):c.1964G>A (p.Arg655Lys)	DLL1, LOC126859913 (R655K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GUncertain significance
Select item 1272949	NM_005618.4(DLL1):c.2048+26G>C	DLL1, LOC126859913	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269335	NM_005618.4(DLL1):c.2167-53G>C	DLL1, LOC126859913	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268928	NM_005618.4(DLL1):c.*194C>T	DLL1, LOC126859913	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1267364	NM_005618.4(DLL1):c.*39A>C	DLL1, LOC126859913	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1254894	NM_005618.4(DLL1):c.*184C>T	DLL1, LOC126859913	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1237493	NM_005618.4(DLL1):c.2048+11C>T	DLL1, LOC126859913	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232797	NM_005618.4(DLL1):c.2167-42T>C	DLL1, LOC126859913	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217947	NM_005618.4(DLL1):c.1981C>T (p.Arg661Cys)	DLL1, LOC126859913 (R661C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 987099	NM_005618.4(DLL1):c.625dup (p.Glu209fs)	DLL1 (E209fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 985068	NM_005618.4(DLL1):c.2044_2045del (p.Arg682fs)	DLL1, LOC126859913 (R682fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 800563	NM_005618.4(DLL1):c.2013_2014del (p.Glu673fs)	DLL1, LOC126859913 (E673fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 777173	NM_005618.4(DLL1):c.2133C>T (p.Ser711=)	LOC126859913, DLL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 761122	NM_005618.4(DLL1):c.1995C>T (p.Cys665=)	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)	not provided	GLikely benign
Select item 746258	NM_005618.4(DLL1):c.2082G>C (p.Ser694=)	DLL1, LOC126859913	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732964	NM_005618.4(DLL1):c.1959C>T (p.Ala653=)	DLL1, LOC126859913	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 712913	NM_005618.4(DLL1):c.1968C>T (p.Asp656=)	DLL1, LOC126859913	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 712643	NM_005618.4(DLL1):c.2076G>A (p.Pro692=)	DLL1, LOC126859913	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 235090	NM_005618.4(DLL1):c.2117C>T (p.Ser706Leu)	LOC126859913, DLL1 (S706L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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