2908[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997640, LOC129997641 +564 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	IGF2R, KIF25 +540 more	Copy number loss	See cases	GPathogenic
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	LOC126859858, LOC126859859 +340 more	Copy number loss	See cases	GPathogenic
Select item 58456	GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1	AFDN, AFDN-DT +322 more	Copy number loss	See cases	GPathogenic
Select item 150838	GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1	LOC129997629, LOC129997630 +323 more	Copy number loss	See cases	GPathogenic
Select item 58458	GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1	AFDN, AFDN-DT +300 more	Copy number loss	See cases	GPathogenic
Select item 144539	GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1	AFDN, AFDN-DT +298 more	Copy number loss	See cases	GPathogenic
Select item 155552	GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1	AFDN, AFDN-DT +278 more	Copy number loss	See cases	GPathogenic
Select item 2579276	GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1	AFDN, AFDN-DT +255 more	Copy number loss	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GPathogenic
Select item 58468	GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1	LOC129997659, LOC129997660 +248 more	Copy number loss	See cases	GPathogenic
Select item 58469	GRCh38/hg38 6q26-27(chr6:162789915-170602152)x1	AFDN, AFDN-DT +244 more	Copy number loss	See cases	GPathogenic
Select item 58470	GRCh38/hg38 6q26-27(chr6:163420224-170608818)x1	AFDN, AFDN-DT +225 more	Copy number loss	See cases	GPathogenic
Select item 146089	GRCh38/hg38 6q27(chr6:164790270-170612001)x1	AFDN, AFDN-DT +204 more	Copy number loss	See cases	GPathogenic
Select item 58472	GRCh38/hg38 6q27(chr6:166370159-170602152)x1	AFDN, AFDN-DT +169 more	Copy number loss	See cases	GPathogenic
Select item 148449	GRCh38/hg38 6q27(chr6:167145050-170714507)x1	AFDN, AFDN-DT +112 more	Copy number loss	See cases	GPathogenic
Select item 155515	GRCh38/hg38 6q27(chr6:167760366-170610394)x1	AFDN, AFDN-DT +87 more	Copy number loss	See cases	GPathogenic
Select item 152206	GRCh38/hg38 6q27(chr6:167896913-170714507)x1	AFDN, C6orf120 +78 more	Copy number loss	See cases	GPathogenic
Select item 58474	GRCh38/hg38 6q27(chr6:167924952-170602152)x1	PHF10, PSMB1 +77 more	Copy number loss	See cases	GPathogenic
Select item 150709	GRCh38/hg38 6q27(chr6:167963618-170597678)x1	AFDN, C6orf120 +77 more	Copy number loss	See cases	GPathogenic
Select item 58475	GRCh38/hg38 6q27(chr6:168180473-170583214)x1	C6orf120, DACT2 +68 more	Copy number loss	See cases	GPathogenic
Select item 57303	GRCh38/hg38 6q27(chr6:168524169-170612001)x1	C6orf120, DLL1 +60 more	Copy number loss	See cases	GPathogenic
Select item 151758	GRCh38/hg38 6q27(chr6:168581259-170610394)x1	C6orf120, DLL1 +60 more	Copy number loss	See cases	GPathogenic
Select item 148570	GRCh38/hg38 6q27(chr6:168802993-170714507)x1	C6orf120, DLL1 +57 more	Copy number loss	See cases	GLikely pathogenic
Select item 148678	GRCh38/hg38 6q27(chr6:168881467-170602152)x1	C6orf120, DLL1 +56 more	Copy number loss	See cases	GPathogenic
Select item 58487	GRCh38/hg38 6q27(chr6:169021176-170602152)x1	C6orf120, DLL1 +54 more	Copy number loss	See cases	GPathogenic
Select item 57021	GRCh38/hg38 6q27(chr6:169441378-170612001)x1	C6orf120, DLL1 +40 more	Copy number loss	See cases	GPathogenic
Select item 57508	GRCh38/hg38 6q27(chr6:169641704-170612001)x1	C6orf120, DLL1 +37 more	Copy number loss	See cases	GPathogenic
Select item 147670	GRCh38/hg38 6q27(chr6:169688809-170583214)x1	C6orf120, DLL1 +34 more	Copy number loss	See cases	GPathogenic
Select item 150245	GRCh38/hg38 6q27(chr6:170014772-170714507)x1	DLL1, FAM120B +22 more	Copy number loss	See cases	GUncertain significance
Select item 153688	GRCh38/hg38 6q27(chr6:170187559-170610394)x3	DLL1, FAM120B +17 more	Copy number gain	See cases	GUncertain significance
Select item 148324	GRCh38/hg38 6q27(chr6:170210927-170714507)x1	DLL1, FAM120B +18 more	Copy number loss	See cases	GLikely pathogenic
Select item 146631	GRCh38/hg38 6q27(chr6:170230802-170358419)x1	DLL1, FAM120B +6 more	Copy number loss	See cases	GBenign
Select item 148348	GRCh38/hg38 6q27(chr6:170257060-170714507)x1	DLL1, FAM120B +18 more	Copy number loss	See cases	GUncertain significance
Select item 149760	GRCh38/hg38 6q27(chr6:170282502-170499171)x1	DLL1, FAM120B +6 more	Copy number loss	See cases	GUncertain significance
Select item 1268928	NM_005618.4(DLL1):c.*194C>T	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 1267364	NM_005618.4(DLL1):c.*39A>C	DLL1, LOC126859913	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1542633	NM_005618.4(DLL1):c.2167-3del	DLL1, LOC126859913	Deletion (intron variant)	not provided	GBenign/Likely 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 2415911	NM_005618.4(DLL1):c.2167-8C>T	DLL1, LOC126859913	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232797	NM_005618.4(DLL1):c.2167-42T>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 1919366	NM_005618.4(DLL1):c.2166+20G>A	DLL1, LOC126859913	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1653252	NM_005618.4(DLL1):c.2166+19C>T	DLL1, LOC126859913	Single nucleotide variant (intron variant)	not provided	GBenign
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 1639588	NM_005618.4(DLL1):c.2151C>T (p.Cys717=)	DLL1, LOC126859913	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2747068	NM_005618.4(DLL1):c.2143G>A (p.Asp715Asn)	DLL1, LOC126859913 (D715N)	Single nucleotide variant (missense 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 777173	NM_005618.4(DLL1):c.2133C>T (p.Ser711=)	LOC126859913, DLL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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)	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 235090	NM_005618.4(DLL1):c.2117C>T (p.Ser706Leu)	LOC126859913, DLL1 (S706L)	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 746258	NM_005618.4(DLL1):c.2082G>C (p.Ser694=)	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 2907626	NM_005618.4(DLL1):c.2076G>T (p.Pro692=)	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 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 1720797	NM_005618.4(DLL1):c.2074C>G (p.Pro692Ala)	DLL1, LOC126859913 (P692A)	Single nucleotide variant (missense variant)	not provided	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 2992632	NM_005618.4(DLL1):c.2051G>C (p.Gly684Ala)	DLL1, LOC126859913 (G684A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955148	NM_005618.4(DLL1):c.2049-16T>C	DLL1, LOC126859913	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2700159	NM_005618.4(DLL1):c.2049-17C>A	DLL1, LOC126859913	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272949	NM_005618.4(DLL1):c.2048+26G>C	DLL1, LOC126859913	Single nucleotide variant (intron variant)	not provided	GBenign
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 1237493	NM_005618.4(DLL1):c.2048+11C>T	DLL1, LOC126859913	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1402132	NM_005618.4(DLL1):c.2048+4C>T	DLL1, LOC126859913	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1978101	NM_005618.4(DLL1):c.2045G>C (p.Arg682Thr)	DLL1, LOC126859913 (R682T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3001663	NM_005618.4(DLL1):c.2044A>G (p.Arg682Gly)	DLL1, LOC126859913 (R682G)	Single nucleotide variant (missense variant)	not provided	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 2969612	NM_005618.4(DLL1):c.2034G>A (p.Pro678=)	DLL1, LOC126859913	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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)	not provided	GLikely benign
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 1996302	NM_005618.4(DLL1):c.2024A>G (p.Lys675Arg)	DLL1, LOC126859913 (K675R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1446977	NM_005618.4(DLL1):c.2019G>A (p.Glu673=)	DLL1, LOC126859913	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1704851	NM_005618.4(DLL1):c.2008T>C (p.Ser670Pro)	DLL1, LOC126859913 (S670P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2781242	NM_005618.4(DLL1):c.2001C>T (p.Pro667=)	DLL1, LOC126859913	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2840257	NM_005618.4(DLL1):c.1998G>T (p.Gln666His)	DLL1, LOC126859913 (Q666H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2700564	NM_005618.4(DLL1):c.1985A>G (p.Asp662Gly)	DLL1, LOC126859913 (D662G)	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 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 1954420	NM_005618.4(DLL1):c.1974C>T (p.His658=)	DLL1, LOC126859913	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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