21064[HGNC] - ClinVar

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Items: 80

	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 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 153097	GRCh38/hg38 14q32.2-32.31(chr14:99794337-100944567)x1	LOC130056444, LOC130056445 +97 more	Copy number loss	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +632 more	Copy number loss	See cases	GPathogenic
Select item 154707	GRCh38/hg38 14q32.2-32.31(chr14:99930669-101022599)x1	BEGAIN, DEGS2 +131 more	Copy number loss	See cases	GPathogenic
Select item 152326	GRCh38/hg38 14q32.2(chr14:100236766-100743192)x3	BEGAIN, DLK1 +37 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	MIR493, MIR494 +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 2297425	NM_001161476.3(WDR25):c.13A>G (p.Thr5Ala)	WDR25 (T5A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189909	NM_001161476.3(WDR25):c.20C>A (p.Ser7Tyr)	WDR25 (S7Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290023	NM_001161476.3(WDR25):c.77A>G (p.His26Arg)	WDR25 (H26R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590689	NM_001161476.3(WDR25):c.82G>A (p.Gly28Arg)	WDR25 (G28R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553467	NM_001161476.3(WDR25):c.113A>G (p.Asp38Gly)	WDR25 (D38G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332763	NM_001161476.3(WDR25):c.134C>T (p.Pro45Leu)	WDR25 (P45L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189904	NM_001161476.3(WDR25):c.140G>A (p.Gly47Glu)	WDR25 (G47E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2521369	NM_001161476.3(WDR25):c.152C>T (p.Ala51Val)	WDR25 (A51V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489560	NM_001161476.3(WDR25):c.298G>A (p.Gly100Arg)	WDR25 (G100R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3189910	NM_001161476.3(WDR25):c.320T>C (p.Phe107Ser)	WDR25 (F107S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332762	NM_001161476.3(WDR25):c.331G>C (p.Glu111Gln)	WDR25 (E111Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349331	NM_001161476.3(WDR25):c.421A>G (p.Arg141Gly)	WDR25 (R141G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470162	NM_001161476.3(WDR25):c.527A>G (p.Tyr176Cys)	WDR25 (Y176C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526884	NM_001161476.3(WDR25):c.538A>G (p.Arg180Gly)	WDR25 (R180G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462474	NM_001161476.3(WDR25):c.589G>T (p.Val197Leu)	WDR25 (V197L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189911	NM_001161476.3(WDR25):c.623C>G (p.Pro208Arg)	WDR25 (P208R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469278	NM_001161476.3(WDR25):c.637G>A (p.Val213Met)	WDR25 (V213M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189912	NM_001161476.3(WDR25):c.668C>T (p.Pro223Leu)	WDR25 (P223L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224173	NM_001161476.3(WDR25):c.703C>A (p.Pro235Thr)	WDR25 (P235T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291044	NM_001161476.3(WDR25):c.805A>G (p.Met269Val)	WDR25 (M269V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207595	NM_001161476.3(WDR25):c.823G>T (p.Val275Leu)	WDR25 (V25L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 207867	NM_001161476.3(WDR25):c.840C>A (p.Asp280Glu)	WDR25 (D280E +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 2614104	NM_001161476.3(WDR25):c.842C>G (p.Ser281Cys)	WDR25 (S281C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332761	NM_001161476.3(WDR25):c.875C>G (p.Thr292Arg)	WDR25 (T292R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347675	NM_001161476.3(WDR25):c.895C>T (p.Arg299Trp)	WDR25 (R299W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332760	NM_001161476.3(WDR25):c.896G>A (p.Arg299Gln)	WDR25 (R299Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189913	NM_001161476.3(WDR25):c.913C>T (p.Arg305Trp)	WDR25 (R55W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189914	NM_001161476.3(WDR25):c.914G>A (p.Arg305Gln)	WDR25 (R305Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3332758	NM_001161476.3(WDR25):c.1072A>G (p.Met358Val)	WDR25 (M108V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 162009	NC_000014.9:g.100489287_100900640del411354	MIR431, MIR432 +27 more	Deletion	Paternal uniparental disomy of chromosome 14	GPathogenic
Select item 2211114	NM_001161476.3(WDR25):c.1237C>T (p.Arg413Trp)	WDR25 (R413W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542481	NM_001161476.3(WDR25):c.1293C>G (p.Ser431Arg)	WDR25 (S431R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524544	NM_001161476.3(WDR25):c.1303C>T (p.His435Tyr)	WDR25 (H185Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332759	NM_001161476.3(WDR25):c.1336A>C (p.Asn446His)	WDR25 (N196H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538628	NM_001161476.3(WDR25):c.1429G>T (p.Val477Leu)	WDR25 (V227L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461497	NM_001161476.3(WDR25):c.1507C>T (p.Arg503Cys)	WDR25 (R253C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466752	NM_001161476.3(WDR25):c.1559G>A (p.Gly520Asp)	WDR25 (G520D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343004	NM_001161476.3(WDR25):c.1568A>G (p.Tyr523Cys)	WDR25 (Y273C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189905	NM_001161476.3(WDR25):c.1576G>A (p.Val526Met)	WDR25 (V526M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189908	NM_001161476.3(WDR25):c.1594G>A (p.Ala532Thr)	WDR25 (A282T +1 more)	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 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 2684746	GRCh37/hg19 14q32.2(chr14:100744130-100910267)x3	SLC25A29, SLC25A47 +3 more	Copy number gain	not provided	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 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	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 813332	GRCh37/hg19 14q32.2(chr14:100317190-101012999)	BEGAIN, DEGS2 +7 more	Copy number loss	Gabriele de Vries syndrome	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 685016	GRCh37/hg19 14q32.2(chr14:100744400-100910248)x3	SLC25A29, SLC25A47 +3 more	Copy number gain	not provided	GUncertain significance
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)	BAG5, MIR380 +98 more	Copy number gain	not provided	GPathogenic
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 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	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 80