ClinVar for Gene (Select 57596) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 3244102	NC_000014.8:g.(?_99375322)_(101142891_?)dup	BCL11B, BEGAIN +13 more	Duplication	not provided	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 707933	NM_001385089.1(BEGAIN):c.1590C>T (p.Pro530=)	BEGAIN	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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
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	LOC130056480, LOC130056481 +571 more	Copy number loss	See cases	GPathogenic
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 154707	GRCh38/hg38 14q32.2-32.31(chr14:99930669-101022599)x1	BEGAIN, DEGS2 +131 more	Copy number loss	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 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 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 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 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	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 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	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 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056535, LOC130056536 +671 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 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +632 more	Copy number loss	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 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 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 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LOC130056672, LOC130056673 +667 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 71