DLK1[gene] and "single gene"[properties] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150968	GRCh38/hg38 14q32.2(chr14:100725840-100727926)x1	DLK1	Copy number loss	See cases	GLikely benign
Select item 3082891	NM_003836.7(DLK1):c.25C>G (p.Arg9Gly)	DLK1 (R9G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332604	NM_003836.7(DLK1):c.62C>T (p.Thr21Ile)	DLK1 (T21I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267911	NM_003836.7(DLK1):c.65A>G (p.Tyr22Cys)	DLK1 (Y22C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506571	NM_003836.7(DLK1):c.67+78C>T	DLK1	Single nucleotide variant (intron variant)	Central precocious puberty	GUncertain significance
Select item 731627	NM_003836.7(DLK1):c.99A>G (p.Gln33=)	DLK1	Single nucleotide variant (synonymous variant)	DLK1-related disorder +1 more	GBenign/Likely benign
Select item 1064521	NM_003836.7(DLK1):c.103G>C (p.Gly35Arg)	DLK1 (G35R)	Single nucleotide variant (missense variant)	Silver-Russell syndrome 1	GUncertain significance
Select item 1694729	NM_003836.7(DLK1):c.112G>T (p.Glu38Ter)	DLK1 (E38*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2479965	NM_003836.7(DLK1):c.117T>A (p.Asp39Glu)	DLK1 (D39E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3058541	NM_003836.7(DLK1):c.171C>T (p.Cys57=)	DLK1	Single nucleotide variant (synonymous variant)	DLK1-related disorder	GLikely benign
Select item 2362974	NM_003836.7(DLK1):c.172G>A (p.Val58Met)	DLK1 (V58M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1064522	NM_003836.7(DLK1):c.194A>G (p.His65Arg)	DLK1 (H65R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2349166	NM_003836.7(DLK1):c.206G>A (p.Gly69Glu)	DLK1 (G69E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2578723	NM_003836.7(DLK1):c.213C>T (p.Pro71=)	DLK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3082888	NM_003836.7(DLK1):c.217C>A (p.Gln73Lys)	DLK1 (Q73K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 779740	NM_003836.7(DLK1):c.218A>T (p.Gln73Leu)	DLK1 (Q73L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2549307	NM_003836.7(DLK1):c.225T>G (p.Ile75Met)	DLK1 (I75M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3082889	NM_003836.7(DLK1):c.232G>A (p.Asp78Asn)	DLK1 (D78N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3082890	NM_003836.7(DLK1):c.244G>C (p.Gly82Arg)	DLK1 (G82R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519718	NM_003836.7(DLK1):c.248A>G (p.Glu83Gly)	DLK1 (E83G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3030180	NM_003836.7(DLK1):c.262+4G>A	DLK1	Single nucleotide variant (intron variant)	DLK1-related disorder	GLikely benign
Select item 2644535	NM_003836.7(DLK1):c.262+119C>T	DLK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2602662	NM_003836.7(DLK1):c.268C>T (p.Arg90Trp)	DLK1 (R90W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569336	NM_003836.7(DLK1):c.281C>T (p.Ser94Leu)	DLK1 (S94L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782883	NM_003836.7(DLK1):c.310G>A (p.Val104Met)	DLK1 (V104M)	Single nucleotide variant (missense variant)	DLK1-related disorder +1 more	GBenign
Select item 2461121	NM_003836.7(DLK1):c.315C>A (p.Ser105Arg)	DLK1 (S105R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506570	NM_003836.7(DLK1):c.357C>G (p.Tyr119Ter)	DLK1 (Y119*)	Single nucleotide variant (nonsense)	Central precocious puberty	GLikely pathogenic
Select item 2356967	NM_003836.7(DLK1):c.359C>T (p.Ser120Leu)	DLK1 (S120L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037474	NM_003836.7(DLK1):c.402C>T (p.Asn134=)	DLK1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3082892	NM_003836.7(DLK1):c.427A>G (p.Thr143Ala)	DLK1 (T143A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 714523	NM_003836.7(DLK1):c.433G>T (p.Val145Leu)	DLK1 (V145L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3082893	NM_003836.7(DLK1):c.507C>T (p.Ile169=)	DLK1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2529448	NM_003836.7(DLK1):c.527C>A (p.Pro176His)	DLK1 (P176H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 734936	NM_003836.7(DLK1):c.537C>T (p.Cys179=)	DLK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2509446	NM_003836.7(DLK1):c.550G>A (p.Val184Ile)	DLK1 (V184I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3059696	NM_003836.7(DLK1):c.564T>C (p.Ile188=)	DLK1	Single nucleotide variant (synonymous variant)	DLK1-related disorder	GBenign
Select item 2594496	NM_003836.7(DLK1):c.565G>A (p.Gly189Arg)	DLK1 (G189R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 710044	NM_003836.7(DLK1):c.603C>T (p.Ile201=)	DLK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3082894	NM_003836.7(DLK1):c.694G>A (p.Glu232Lys)	DLK1 (E232K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3037935	NM_003836.7(DLK1):c.699T>C (p.Cys233=)	DLK1	Single nucleotide variant (synonymous variant +1 more)	DLK1-related disorder	GBenign
Select item 2375680	NM_003836.7(DLK1):c.706A>G (p.Lys236Glu)	DLK1 (K236E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3082895	NM_003836.7(DLK1):c.740A>G (p.Lys247Arg)	DLK1 (K247R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3082896	NM_003836.7(DLK1):c.742C>T (p.Arg248Cys)	DLK1 (R248C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2644536	NM_003836.7(DLK1):c.744C>T (p.Arg248=)	DLK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2286959	NM_003836.7(DLK1):c.745G>A (p.Ala249Thr)	DLK1 (A249T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3058911	NM_003836.7(DLK1):c.779G>A (p.Ser260Asn)	DLK1 (S260N)	Single nucleotide variant (missense variant +1 more)	DLK1-related disorder	GBenign
Select item 3234251	NM_003836.7(DLK1):c.780C>T (p.Ser260=)	DLK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3082897	NM_003836.7(DLK1):c.820G>C (p.Glu274Gln)	DLK1 (E274Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 786626	NM_003836.7(DLK1):c.840G>A (p.Pro280=)	DLK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2466769	NM_003836.7(DLK1):c.843G>T (p.Glu281Asp)	DLK1 (E281D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2672570	NM_003836.7(DLK1):c.874C>T (p.Leu292Phe)	DLK1 (L292F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2644537	NM_003836.7(DLK1):c.933C>A (p.Gly311=)	DLK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644538	NM_003836.7(DLK1):c.963T>C (p.Thr321=)	DLK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2234804	NM_003836.7(DLK1):c.1031G>A (p.Arg344Gln)	DLK1 (R271Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271579	NM_003836.7(DLK1):c.1063A>G (p.Ser355Gly)	DLK1 (S282G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 789822	NM_003836.7(DLK1):c.1125C>T (p.Ser375=)	DLK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 714524	NM_003836.7(DLK1):c.1138G>C (p.Asp380His)	DLK1 (D307H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2463426	NM_003836.7(DLK1):c.1141G>A (p.Glu381Lys)	DLK1 (E308K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 983280	GRCh37/hg19 14q32.2(chr14:101201380-101290903)x1	DLK1	Copy number loss	See cases	GPathogenic

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Items: 59