24163[HGNC] - ClinVar

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Items: 71

	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 162009	NC_000014.9:g.100489287_100900640del411354	MIR431, MIR432 +27 more	Deletion	Paternal uniparental disomy of chromosome 14	GPathogenic
Select item 2536399	NM_001385089.1(BEGAIN):c.1765C>G (p.Arg589Gly)	BEGAIN (R542G +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464976	NM_001385089.1(BEGAIN):c.1712C>G (p.Ala571Gly)	BEGAIN (A564G +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133667	NM_001385089.1(BEGAIN):c.1630G>A (p.Gly544Arg)	BEGAIN (G510R +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133666	NM_001385089.1(BEGAIN):c.1610G>C (p.Gly537Ala)	BEGAIN (G454A +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260771	NM_001385089.1(BEGAIN):c.1608G>C (p.Glu536Asp)	BEGAIN (E453D +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 707933	NM_001385089.1(BEGAIN):c.1590C>T (p.Pro530=)	BEGAIN	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2381998	NM_001385089.1(BEGAIN):c.1571G>A (p.Arg524His)	BEGAIN (R441H +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133665	NM_001385089.1(BEGAIN):c.1549G>A (p.Asp517Asn)	BEGAIN (D470N +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284176	NM_001385089.1(BEGAIN):c.1411G>C (p.Ala471Pro)	BEGAIN (A443P +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133664	NM_001385089.1(BEGAIN):c.1406G>T (p.Gly469Val)	BEGAIN (G422V +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223495	NM_001385089.1(BEGAIN):c.1369C>T (p.Arg457Cys)	BEGAIN (R374C +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605585	NM_001385089.1(BEGAIN):c.1241C>A (p.Pro414Gln)	BEGAIN (P374Q +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395657	NM_001385089.1(BEGAIN):c.1237C>T (p.Pro413Ser)	BEGAIN (P330S +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246178	NM_001385089.1(BEGAIN):c.1174T>A (p.Ser392Thr)	BEGAIN (S309T +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293766	NM_001385089.1(BEGAIN):c.1165C>T (p.Arg389Trp)	BEGAIN (R355W +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 689690	NM_001385089.1(BEGAIN):c.1162G>A (p.Gly388Arg)	BEGAIN (G369R +13 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3260772	NM_001385089.1(BEGAIN):c.1159T>C (p.Phe387Leu)	BEGAIN (F381L +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133663	NM_001385089.1(BEGAIN):c.1144G>A (p.Glu382Lys)	BEGAIN (E342K +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260774	NM_001385089.1(BEGAIN):c.869A>T (p.Glu290Val)	BEGAIN (E207V +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207277	NM_001385089.1(BEGAIN):c.854C>G (p.Ala285Gly)	BEGAIN (A202G +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133670	NM_001385089.1(BEGAIN):c.779G>C (p.Arg260Pro)	BEGAIN (R213P +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 720693	NM_001385089.1(BEGAIN):c.710C>A (p.Pro237Gln)	BEGAIN (P218Q +13 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3133669	NM_001385089.1(BEGAIN):c.662C>G (p.Ala221Gly)	BEGAIN (A174G +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549486	NM_001385089.1(BEGAIN):c.658G>A (p.Asp220Asn)	BEGAIN (D243N +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511968	NM_001385089.1(BEGAIN):c.601G>A (p.Val201Ile)	BEGAIN (V167I +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 708412	NM_001385089.1(BEGAIN):c.583G>A (p.Asp195Asn)	BEGAIN (D176N +13 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2318951	NM_001385089.1(BEGAIN):c.529A>T (p.Met177Leu)	BEGAIN (M149L +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260773	NM_001385089.1(BEGAIN):c.469G>A (p.Gly157Ser)	BEGAIN (G138S +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2324242	NM_001385089.1(BEGAIN):c.292T>C (p.Tyr98His)	BEGAIN (Y92H +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386140	NM_001385089.1(BEGAIN):c.252G>C (p.Met84Ile)	BEGAIN (M114I +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	LOC130056480, LOC130056481 +571 more	Copy number loss	See cases	GPathogenic
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 2685500	GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1	IGHV3-23, INF2 +91 more	Copy number loss	not provided	GPathogenic
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 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: 71