ClinVar for Gene (Select 2709) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281464	NM_005268.4(GJB5):c.563T>G (p.Leu188Arg)	GJB5 (L188R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281463	NM_005268.4(GJB5):c.674T>C (p.Met225Thr)	GJB5 (M225T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3281462	NM_005268.4(GJB5):c.607G>A (p.Val203Met)	GJB5 (V203M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281461	NM_005268.4(GJB5):c.370C>T (p.Arg124Trp)	GJB5 (R124W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099981	NM_005268.4(GJB5):c.83T>C (p.Val28Ala)	GJB5 (V28A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099980	NM_005268.4(GJB5):c.586A>G (p.Ile196Val)	GJB5 (I196V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3099978	NM_005268.4(GJB5):c.125G>A (p.Arg42His)	GJB5 (R42H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2607769	NM_005268.4(GJB5):c.310A>G (p.Arg104Gly)	GJB5 (R104G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606146	NM_005268.4(GJB5):c.491G>A (p.Cys164Tyr)	GJB5 (C164Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542372	NM_005268.4(GJB5):c.787C>T (p.Arg263Cys)	GJB5 (R263C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532646	NM_005268.4(GJB5):c.88A>G (p.Ile30Val)	GJB5 (I30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484648	NM_005268.4(GJB5):c.362G>T (p.Gly121Val)	GJB5 (G121V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484254	NM_005268.4(GJB5):c.767A>G (p.His256Arg)	GJB5 (H256R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460222	NM_005268.4(GJB5):c.365A>G (p.Lys122Arg)	GJB5 (K122R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404661	NM_005268.4(GJB5):c.64C>T (p.Arg22Cys)	GJB5 (R22C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379423	NM_005268.4(GJB5):c.224G>A (p.Arg75His)	GJB5 (R75H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349235	NM_005268.4(GJB5):c.421G>A (p.Val141Met)	GJB5 (V141M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303745	NM_005268.4(GJB5):c.548A>G (p.Lys183Arg)	GJB5 (K183R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295361	NM_005268.4(GJB5):c.420C>A (p.Ser140Arg)	GJB5 (S140R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285914	NM_005268.4(GJB5):c.292C>T (p.Arg98Trp)	GJB5 (R98W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262922	NM_005268.4(GJB5):c.199G>A (p.Glu67Lys)	GJB5 (E67K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235373	NM_005268.4(GJB5):c.26T>C (p.Leu9Pro)	GJB5 (L9P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228593	NM_005268.4(GJB5):c.512A>G (p.Asn171Ser)	GJB5 (N171S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209070	NM_005268.4(GJB5):c.788G>A (p.Arg263His)	GJB5 (R263H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1808707	GRCh37/hg19 1p34.3(chr1:35104233-37357913)x1	ADPRS, AGO1 +32 more	Copy number loss	not provided	GPathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 686407	GRCh37/hg19 1p34.3(chr1:34915050-36163162)x3	DLGAP3, GJA4 +13 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 625764	GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915)	YARS1, ZBTB8A +41 more	Copy number loss	not provided	GPathogenic
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395434	GRCh37/hg19 1p34.3(chr1:34830287-36945093)x1	ADPRS, AGO1 +31 more	Copy number loss	See cases	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 148904	GRCh38/hg38 1p34.3(chr1:34753938-36055310)x1	AGO1, AGO3 +70 more	Copy number loss	See cases	GLikely pathogenic

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Links from Gene

Items: 36