XKR9[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC130000897, LOC130000898 +1960 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	SNHG6, SNORD87 +421 more	Copy number gain	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 60364	GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1	ADHFE1, ARFGEF1 +228 more	Copy number loss	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000722, LOC130000723 +470 more	Copy number gain	See cases	GPathogenic
Select item 148965	GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3	ARFGEF1, ARFGEF1-DT +245 more	Copy number gain	See cases	GPathogenic
Select item 57153	GRCh38/hg38 8q13.2-13.3(chr8:68488015-71476177)x1	C8orf34, EYA1 +53 more	Copy number loss	See cases	GPathogenic
Select item 149198	GRCh38/hg38 8q13.2-13.3(chr8:68987835-71663466)x1	EYA1, LACTB2 +49 more	Copy number loss	See cases	GPathogenic
Select item 145425	GRCh38/hg38 8q13.2-13.3(chr8:68987881-71640028)x1	EYA1, LACTB2 +49 more	Copy number loss	See cases	GPathogenic
Select item 148605	GRCh38/hg38 8q13.3(chr8:70625656-70804655)x1	LACTB2, LACTB2-AS1 +4 more	Copy number loss	See cases	GUncertain significance
Select item 2359905	NM_001011720.2(XKR9):c.204G>C (p.Lys68Asn)	XKR9 (K68N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239047	NM_001011720.2(XKR9):c.260G>A (p.Gly87Glu)	XKR9 (G87E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307831	NM_001011720.2(XKR9):c.290A>G (p.Lys97Arg)	XKR9 (K97R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478945	NM_001011720.2(XKR9):c.305C>A (p.Ala102Glu)	XKR9 (A102E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243438	NM_001011720.2(XKR9):c.314A>C (p.Lys105Thr)	XKR9 (K105T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2528800	NM_001011720.2(XKR9):c.351A>C (p.Gln117His)	XKR9 (Q117H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372297	NM_001011720.2(XKR9):c.358C>A (p.Leu120Ile)	XKR9 (L120I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224883	NM_001011720.2(XKR9):c.479C>T (p.Ala160Val)	XKR9 (A160V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347626	NM_001011720.2(XKR9):c.499G>A (p.Ala167Thr)	XKR9 (A35T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553739	NM_001011720.2(XKR9):c.535A>G (p.Thr179Ala)	XKR9 (T179A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782855	NM_001011720.2(XKR9):c.547C>T (p.Gln183Ter)	XKR9 (Q183* +1 more)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 2658646	NM_001011720.2(XKR9):c.599G>A (p.Cys200Tyr)	XKR9 (C200Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2527861	NM_001011720.2(XKR9):c.674T>A (p.Phe225Tyr)	XKR9 (F93Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270542	NM_001011720.2(XKR9):c.737C>T (p.Ala246Val)	XKR9 (A246V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397315	NM_001011720.2(XKR9):c.787T>C (p.Tyr263His)	XKR9 (Y131H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512579	NM_001011720.2(XKR9):c.908C>G (p.Thr303Ser)	XKR9 (T303S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305836	NM_001011720.2(XKR9):c.1000C>T (p.Leu334Phe)	XKR9 (L202F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 59789	GRCh38/hg38 8q13.3-21.11(chr8:70948393-74353284)x3	C8orf89, ELOC +78 more	Copy number gain	See cases	GPathogenic
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3063003	GRCh37/hg19 8q13.2-13.3(chr8:69889747-72597645)x1	EYA1, LACTB2 +6 more	Copy number loss	not specified	GPathogenic
Select item 2685314	GRCh37/hg19 8q13.3(chr8:71556060-71631858)x1	LACTB2, XKR9	Copy number loss	not provided	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1527439	GRCh37/hg19 8q13.2-13.3(chr8:69899336-72597645)	EYA1, LACTB2 +6 more	Copy number loss	not specified	GPathogenic
Select item 1340774	GRCh37/hg19 8q13.2-13.3(chr8:69894553-72597645)x1	EYA1, LACTB2 +6 more	Copy number loss	not provided	GPathogenic
Select item 979238	GRCh37/hg19 8q13.3(chr8:71244655-71685822)x3	LACTB2, NCOA2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 815135	GRCh37/hg19 8q13.3(chr8:70848713-71632067)x3	TRAM1, PRDM14 +3 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 685677	GRCh37/hg19 8q13.3(chr8:71475270-71849895)x1	LACTB2, TRAM1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 563480	GRCh37/hg19 8q13.3(chr8:71525694-71835493)x3	LACTB2, XKR9	Copy number gain	not provided	GUncertain significance
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	PPP1R16A, PPP1R42 +593 more	Copy number gain	See cases	GPathogenic
Select item 443307	GRCh37/hg19 8q13.3(chr8:71198990-71920676)x1	LACTB2, NCOA2 +2 more	Copy number loss	See cases	GUncertain significance
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	NSD3, NSMAF +665 more	Copy number gain	See cases	GPathogenic
Select item 441934	GRCh37/hg19 8q13.2-13.3(chr8:69899336-72597645)x1	EYA1, LACTB2 +6 more	Copy number loss	See cases	GPathogenic
Select item 395535	GRCh37/hg19 8q13.3(chr8:71549662-71647145)x3	LACTB2, XKR9	Copy number gain	See cases	GLikely benign
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 253642	GRCh37/hg19 8q13.2-13.3(chr8:69955127-72552241)x1	PRDM14, SULF1 +6 more	Copy number loss	See cases	GPathogenic
Select item 253364	GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3	RPL7, XKR9 +34 more	Copy number gain	See cases	GLikely pathogenic
Select item 226194	GRCh37/hg19 8q13.3(chr8:71608781-71646728)	XKR9	Copy number loss	Abnormal esophagus morphology	GLikely benign

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Items: 59