19710[HGNC] - 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	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	LOC130056380, LOC130056381 +755 more	Copy number loss	See cases	GPathogenic
Select item 57812	GRCh38/hg38 14q32.2(chr14:96920270-100178956)x1	BCL11B, CCDC85C +81 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056535, LOC130056536 +671 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LOC130056672, LOC130056673 +667 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056604, LOC130056605 +654 more	Copy number gain	See cases	GPathogenic
Select item 3284237	NM_001127258.3(HHIPL1):c.19G>A (p.Gly7Arg)	HHIPL1 (G7R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529262	NM_001127258.3(HHIPL1):c.35T>G (p.Leu12Arg)	HHIPL1 (L12R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352730	NM_001127258.3(HHIPL1):c.163G>A (p.Glu55Lys)	HHIPL1 (E55K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386776	NM_001127258.3(HHIPL1):c.240G>T (p.Arg80Ser)	HHIPL1 (R80S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105721	NM_001127258.3(HHIPL1):c.269A>C (p.Tyr90Ser)	HHIPL1 (Y90S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295424	NM_001127258.3(HHIPL1):c.271G>A (p.Ala91Thr)	HHIPL1 (A26T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363104	NM_001127258.3(HHIPL1):c.289G>A (p.Ala97Thr)	HHIPL1 (A97T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284621	NM_001127258.3(HHIPL1):c.292G>A (p.Glu98Lys)	HHIPL1 (E33K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237575	NM_001127258.3(HHIPL1):c.305C>T (p.Thr102Met)	HHIPL1 (T102M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315333	NM_001127258.3(HHIPL1):c.307C>A (p.Pro103Thr)	HHIPL1 (P103T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541677	NM_001127258.3(HHIPL1):c.313C>A (p.Arg105Ser)	HHIPL1 (R105S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284233	NM_001127258.3(HHIPL1):c.317C>T (p.Thr106Met)	HHIPL1 (T106M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385963	NM_001127258.3(HHIPL1):c.367C>T (p.Arg123Trp)	HHIPL1 (R123W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494854	NM_001127258.3(HHIPL1):c.370G>A (p.Gly124Arg)	HHIPL1 (G124R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455071	NM_001127258.3(HHIPL1):c.379C>T (p.Arg127Cys)	HHIPL1 (R127C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458105	NM_001127258.3(HHIPL1):c.461C>T (p.Thr154Met)	HHIPL1 (T89M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312427	NM_001127258.3(HHIPL1):c.574G>A (p.Gly192Arg)	HHIPL1 (G127R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598206	NM_001127258.3(HHIPL1):c.589G>A (p.Val197Met)	HHIPL1 (V132M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594834	NM_001127258.3(HHIPL1):c.622C>T (p.Arg208Cys)	HHIPL1 (R143C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105722	NM_001127258.3(HHIPL1):c.623G>A (p.Arg208His)	HHIPL1 (R143H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550005	NM_001127258.3(HHIPL1):c.745C>T (p.Arg249Cys)	HHIPL1 (R184C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284236	NM_001127258.3(HHIPL1):c.760A>C (p.Ile254Leu)	HHIPL1 (I189L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3105723	NM_001127258.3(HHIPL1):c.817G>T (p.Gly273Cys)	HHIPL1 (G208C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284230	NM_001127258.3(HHIPL1):c.824G>A (p.Arg275His)	HHIPL1 (R275H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105724	NM_001127258.3(HHIPL1):c.915G>T (p.Glu305Asp)	HHIPL1 (E305D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549453	NM_001127258.3(HHIPL1):c.947G>C (p.Gly316Ala)	HHIPL1 (G316A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597767	NM_001127258.3(HHIPL1):c.961G>A (p.Gly321Arg)	HHIPL1 (G256R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288442	NM_001127258.3(HHIPL1):c.973T>C (p.Tyr325His)	HHIPL1 (Y260H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404368	NM_001127258.3(HHIPL1):c.1000G>A (p.Gly334Arg)	HHIPL1 (G269R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569629	NM_001127258.3(HHIPL1):c.1049C>T (p.Ser350Leu)	HHIPL1 (S285L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219918	NM_001127258.3(HHIPL1):c.1078G>A (p.Asp360Asn)	HHIPL1 (D360N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284231	NM_001127258.3(HHIPL1):c.1096C>T (p.Arg366Cys)	HHIPL1 (R301C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105709	NM_001127258.3(HHIPL1):c.1120C>T (p.Pro374Ser)	HHIPL1 (P374S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488902	NM_001127258.3(HHIPL1):c.1169C>A (p.Ala390Asp)	HHIPL1 (A390D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644512	NM_001127258.3(HHIPL1):c.1212C>T (p.Gly404=)	HHIPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2565286	NM_001127258.3(HHIPL1):c.1217C>A (p.Pro406His)	HHIPL1 (P341H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105710	NM_001127258.3(HHIPL1):c.1225G>A (p.Gly409Ser)	HHIPL1 (G409S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531372	NM_001127258.3(HHIPL1):c.1237G>T (p.Gly413Trp)	HHIPL1 (G348W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284238	NM_001127258.3(HHIPL1):c.1244T>A (p.Leu415His)	HHIPL1 (L350H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275375	NM_001127258.3(HHIPL1):c.1360G>A (p.Ala454Thr)	HHIPL1 (A389T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540408	NM_001127258.3(HHIPL1):c.1367C>T (p.Thr456Ile)	HHIPL1 (T391I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304692	NM_001127258.3(HHIPL1):c.1385T>G (p.Leu462Arg)	HHIPL1 (L397R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229589	NM_001127258.3(HHIPL1):c.1396G>A (p.Ala466Thr)	HHIPL1 (A401T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105711	NM_001127258.3(HHIPL1):c.1408A>G (p.Thr470Ala)	HHIPL1 (T405A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273143	NM_001127258.3(HHIPL1):c.1444C>G (p.Arg482Gly)	HHIPL1 (R482G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161519	NM_001127258.3(HHIPL1):c.1471G>C (p.Gly491Arg)	HHIPL1 (G491R +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 3284235	NM_001127258.3(HHIPL1):c.1498A>G (p.Ser500Gly)	HHIPL1 (S500G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303264	NM_001127258.3(HHIPL1):c.1564A>G (p.Met522Val)	HHIPL1 (M457V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359311	NM_001127258.3(HHIPL1):c.1642G>A (p.Glu548Lys)	HHIPL1 (E483K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550542	NM_001127258.3(HHIPL1):c.1702G>A (p.Val568Ile)	HHIPL1 (V503I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297088	NM_001127258.3(HHIPL1):c.1753C>G (p.Gln585Glu)	HHIPL1 (Q585E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105714	NM_001127258.3(HHIPL1):c.1843C>T (p.Arg615Trp)	HHIPL1 (R615W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259064	NM_001127258.3(HHIPL1):c.1885C>T (p.Arg629Cys)	HHIPL1 (R629C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284234	NM_001127258.3(HHIPL1):c.1904C>G (p.Pro635Arg)	HHIPL1 (P635R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105715	NM_001127258.3(HHIPL1):c.1906G>T (p.Ala636Ser)	HHIPL1 (A636S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405772	NM_001127258.3(HHIPL1):c.1933A>C (p.Thr645Pro)	HHIPL1 (T645P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105716	NM_001127258.3(HHIPL1):c.1999G>A (p.Ala667Thr)	HHIPL1 (A667T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105717	NM_001127258.3(HHIPL1):c.2003T>C (p.Phe668Ser)	HHIPL1 (F668S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348312	NM_001127258.3(HHIPL1):c.2030G>A (p.Arg677Gln)	HHIPL1 (R677Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404074	NM_001127258.3(HHIPL1):c.2054G>A (p.Ser685Asn)	HHIPL1 (S685N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263020	NM_001127258.3(HHIPL1):c.2060G>A (p.Arg687His)	HHIPL1 (R687H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105718	NM_001127258.3(HHIPL1):c.2074G>A (p.Val692Met)	HHIPL1 (V692M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238557	NM_001127258.3(HHIPL1):c.2080G>A (p.Gly694Arg)	HHIPL1 (G694R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328708	NM_001127258.3(HHIPL1):c.2168G>A (p.Arg723His)	HHIPL1 (R723H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105719	NM_001127258.3(HHIPL1):c.2173G>T (p.Val725Phe)	HHIPL1 (V725F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351281	NM_001127258.3(HHIPL1):c.2174T>C (p.Val725Ala)	HHIPL1 (V725A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2282917	NM_001127258.3(HHIPL1):c.2236G>C (p.Ala746Pro)	HHIPL1 (A746P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531308	NM_001127258.3(HHIPL1):c.2257C>G (p.Leu753Val)	HHIPL1 (L753V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304716	NM_001127258.3(HHIPL1):c.2273A>G (p.Asn758Ser)	HHIPL1 (N758S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105720	NM_001127258.3(HHIPL1):c.2296G>A (p.Glu766Lys)	HHIPL1 (E766K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244102	NC_000014.8:g.(?_99375322)_(101142891_?)dup	BCL11B, BEGAIN +13 more	Duplication	not provided	GUncertain significance
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 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	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	AREL1, ARF6 +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 929832	GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1	KIF26A, KLC1 +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	ATXN3, BAG5 +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 564133	GRCh37/hg19 14q32.2(chr14:98924025-101159952)x3	WDR25, LINC02914 +14 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	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	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 97