8788[Gene ID] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ESRRB, EVL +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	ZFYVE21, ZNF839 +662 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	SNORD114-11, SNORD114-12 +754 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056455, LOC130056456 +670 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	ADSS1, AHNAK2 +666 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	ADSS1, AHNAK2 +653 more	Copy number gain	See cases	GPathogenic
Select item 153097	GRCh38/hg38 14q32.2-32.31(chr14:99794337-100944567)x1	LOC125078039, LOC126862047 +96 more	Copy number loss	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	LOC130056511, LOC130056512 +631 more	Copy number loss	See cases	GPathogenic
Select item 154707	GRCh38/hg38 14q32.2-32.31(chr14:99930669-101022599)x1	BEGAIN, DEGS2 +130 more	Copy number loss	See cases	GPathogenic
Select item 152326	GRCh38/hg38 14q32.2(chr14:100236766-100743192)x3	BEGAIN, DLK1 +36 more	Copy number gain	See cases	GUncertain significance
Select item 150931	GRCh38/hg38 14q32.2-32.31(chr14:100262836-102500697)x1	BEGAIN, CINP +215 more	Copy number loss	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	LOC126862061, LOC126862062 +530 more	Copy number gain	See cases	GPathogenic
Select item 57267	GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	ADSS1, AHNAK2 +582 more	Copy number loss	See cases	GPathogenic
Select item 162009	NC_000014.9:g.100489287_100900640del411354	MIR431, MIR432 +27 more	Deletion	Paternal uniparental disomy of chromosome 14	GPathogenic
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	PPP2R5C, RCOR1 +571 more	Copy number loss	See cases	GPathogenic
Select item 162007	NC_000014.9:g.100720531_100829298del108768	DLK1, LOC112163682 +3 more	Deletion	Paternal uniparental disomy of chromosome 14	GPathogenic
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 condition +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 condition	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)	DLK1-related condition +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 condition	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)	not provided +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 condition	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 condition	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 condition	GBenign
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 3063330	GRCh37/hg19 14q32.2(chr14:100678749-101242671)x1	BEGAIN, DLK1 +5 more	Copy number loss	not specified	GPathogenic
Select item 3063318	GRCh37/hg19 14q32.2-32.32(chr14:97705251-103682578)x3	AMN, ANKRD9 +54 more	Copy number gain	not specified	GUncertain significance
Select item 2685500	GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1	DIO3OS, WDR20 +91 more	Copy number loss	not provided	GPathogenic
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	ADSS1, AHNAK2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2578330	GRCh37/hg19 14q32.2-32.31(chr14:100397006-101488936)x1	BEGAIN, DEGS2 +25 more	Copy number loss	Motor developmental delay due to 14q32.2 paternally expressed gene defect	GPathogenic
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1340262	GRCh37/hg19 14q32.13-32.31(chr14:95871795-102457523)x1	AK7, ATG2B +56 more	Copy number loss	not provided	GPathogenic
Select item 983280	GRCh37/hg19 14q32.2(chr14:101201380-101290903)x1	DLK1	Copy number loss	See cases	GPathogenic
Select item 929832	GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1	PPP2R5C, RCOR1 +112 more	Copy number loss	See cases	GPathogenic
Select item 688581	GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3	ADSS1, AHNAK2 +104 more	Copy number gain	not provided	GPathogenic
Select item 687996	GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	BTBD6, MIR369 +164 more	Copy number gain	not provided	GPathogenic
Select item 625815	GRCh37/hg19 14q32.2-32.31(chr14:99737888-101847855)	BEGAIN, CCDC85C +35 more	Copy number gain	not provided	GLikely pathogenic
Select item 625744	GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934)	ADSS1, AHNAK2 +98 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 443644	GRCh37/hg19 14q32.2-32.33(chr14:100661319-107285437)x1	ADSS1, AHNAK2 +96 more	Copy number loss	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic

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Items: 97