ClinVar for Gene (Select 55113) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3351145	NM_018053.4(XKR8):c.86C>T (p.Thr29Ile)	XKR8 (T29I)	Single nucleotide variant (missense variant)	XKR8-related condition	GLikely benign
Select item 3333454	NM_018053.4(XKR8):c.593G>A (p.Gly198Asp)	XKR8 (G198D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333453	NM_018053.4(XKR8):c.64G>T (p.Ala22Ser)	XKR8 (A22S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333452	NM_018053.4(XKR8):c.191G>C (p.Ser64Thr)	XKR8 (S64T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333451	NM_018053.4(XKR8):c.547C>T (p.Arg183Trp)	XKR8 (R183W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333450	NM_018053.4(XKR8):c.242C>T (p.Pro81Leu)	XKR8 (P81L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333449	NM_018053.4(XKR8):c.244C>T (p.Arg82Cys)	XKR8 (R82C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191174	NM_018053.4(XKR8):c.980T>G (p.Phe327Cys)	XKR8 (F327C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191173	NM_018053.4(XKR8):c.772G>A (p.Glu258Lys)	XKR8 (E258K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191172	NM_018053.4(XKR8):c.683A>C (p.Tyr228Ser)	XKR8 (Y228S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191171	NM_018053.4(XKR8):c.601G>A (p.Val201Met)	XKR8 (V201M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191170	NM_018053.4(XKR8):c.584T>C (p.Leu195Pro)	XKR8 (L195P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191168	NM_018053.4(XKR8):c.1092G>T (p.Glu364Asp)	XKR8 (E364D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191167	NM_018053.4(XKR8):c.1073G>A (p.Arg358Gln)	XKR8 (R358Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2613617	NM_018053.4(XKR8):c.548G>A (p.Arg183Gln)	XKR8 (R183Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611708	NM_018053.4(XKR8):c.172G>T (p.Val58Leu)	XKR8 (V58L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568885	NM_018053.4(XKR8):c.267T>G (p.His89Gln)	XKR8 (H89Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562239	NM_018053.4(XKR8):c.763C>T (p.Pro255Ser)	XKR8 (P255S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557660	NM_018053.4(XKR8):c.544C>T (p.His182Tyr)	XKR8 (H182Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548302	NM_018053.4(XKR8):c.655G>A (p.Ala219Thr)	XKR8 (A219T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522179	NM_018053.4(XKR8):c.176C>G (p.Ala59Gly)	XKR8 (A59G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480139	NM_018053.4(XKR8):c.472C>T (p.Arg158Trp)	XKR8 (R158W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404133	NM_018053.4(XKR8):c.850C>T (p.Arg284Trp)	XKR8 (R284W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356006	NM_018053.4(XKR8):c.452C>G (p.Ala151Gly)	XKR8 (A151G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345447	NM_018053.4(XKR8):c.1110G>C (p.Gln370His)	XKR8 (Q370H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341280	NM_018053.4(XKR8):c.425C>T (p.Thr142Met)	XKR8 (T142M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294088	NM_018053.4(XKR8):c.538G>A (p.Asp180Asn)	XKR8 (D180N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287035	NM_018053.4(XKR8):c.370G>A (p.Asp124Asn)	XKR8 (D124N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276666	NM_018053.4(XKR8):c.1036T>C (p.Cys346Arg)	XKR8 (C346R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2247804	NM_018053.4(XKR8):c.973G>A (p.Gly325Ser)	XKR8 (G325S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	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 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 253760	GRCh37/hg19 1p35.3(chr1:28292253-28969539)x3	RCC1, EYA3 +12 more	Copy number gain	See cases	GUncertain significance
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 148510	GRCh38/hg38 1p35.3(chr1:27919199-28607226)x3	ATP5IF1, DNAJC8 +51 more	Copy number gain	See cases	GUncertain significance
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 57753	GRCh38/hg38 1p35.3(chr1:27952842-28193956)x3	EYA3, LOC129388479 +13 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 40