ClinVar for Gene (Select 114786) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333427	NM_052898.2(XKR4):c.1432T>C (p.Tyr478His)	XKR4 (Y478H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333426	NM_052898.2(XKR4):c.563C>T (p.Pro188Leu)	XKR4 (P188L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333425	NM_052898.2(XKR4):c.1099A>G (p.Ile367Val)	XKR4 (I367V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191127	NM_052898.2(XKR4):c.818C>T (p.Thr273Ile)	XKR4 (T273I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191126	NM_052898.2(XKR4):c.704G>C (p.Gly235Ala)	XKR4 (G235A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191125	NM_052898.2(XKR4):c.592G>A (p.Gly198Ser)	XKR4 (G198S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3191124	NM_052898.2(XKR4):c.512T>G (p.Phe171Cys)	XKR4 (F171C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191123	NM_052898.2(XKR4):c.314G>A (p.Arg105Gln)	XKR4 (R105Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +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 2555384	NM_052898.2(XKR4):c.1105T>C (p.Tyr369His)	XKR4 (Y369H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554784	NM_052898.2(XKR4):c.697A>G (p.Ser233Gly)	XKR4 (S233G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534746	NM_052898.2(XKR4):c.718A>G (p.Ser240Gly)	XKR4 (S240G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534745	NM_052898.2(XKR4):c.673G>A (p.Ala225Thr)	XKR4 (A225T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534744	NM_052898.2(XKR4):c.388G>A (p.Val130Ile)	XKR4 (V130I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2534743	NM_052898.2(XKR4):c.167C>G (p.Pro56Arg)	XKR4 (P56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483487	NM_052898.2(XKR4):c.1577G>A (p.Cys526Tyr)	XKR4 (C526Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408447	NM_052898.2(XKR4):c.229T>G (p.Ser77Ala)	XKR4 (S77A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403819	NM_052898.2(XKR4):c.1480G>A (p.Val494Met)	XKR4 (V494M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328528	NM_052898.2(XKR4):c.530C>T (p.Ala177Val)	XKR4 (A177V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314535	NM_052898.2(XKR4):c.569C>T (p.Ala190Val)	XKR4 (A190V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290052	NM_052898.2(XKR4):c.1906G>A (p.Asp636Asn)	XKR4 (D636N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261492	NM_052898.2(XKR4):c.1620C>G (p.Asp540Glu)	XKR4 (D540E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2242322	NM_052898.2(XKR4):c.1522A>G (p.Met508Val)	XKR4 (M508V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232343	NM_052898.2(XKR4):c.481G>A (p.Val161Met)	XKR4 (V161M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225397	NM_052898.2(XKR4):c.439C>A (p.Leu147Ile)	XKR4 (L147I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212184	NM_052898.2(XKR4):c.1864G>A (p.Ala622Thr)	XKR4 (A622T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 832547	NC_000008.10:g.(?_54978308)_(56436786_?)dup	MRPL15, RP1 +3 more	Duplication	not provided	GUncertain significance
Select item 778942	NM_052898.2(XKR4):c.1677C>A (p.Arg559=)	XKR4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 685558	GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3	IDO1, IDO2 +78 more	Copy number gain	not provided	GPathogenic
Select item 563496	GRCh37/hg19 8q12.1(chr8:56288969-56854172)x3	XKR4, TGS1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
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)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 393993	GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	ADAM18, ADAM2 +133 more	Copy number gain	See cases	GUncertain significance
Select item 253344	GRCh37/hg19 8q12.1(chr8:56405320-57358911)x1	TGS1, PENK +8 more	Copy number loss	See cases	GLikely pathogenic
Select item 252969	GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3	ALKAL1, ASPH +36 more	Copy number gain	See cases	GPathogenic
Select item 155115	GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1	ASPH, ATP6V1H +228 more	Copy number loss	See cases	GPathogenic
Select item 154925	GRCh38/hg38 8q12.1(chr8:54764950-56785299)x1	CERNA3, CHCHD7 +69 more	Copy number loss	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154575	GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1	ALKAL1, ATP6V1H +175 more	Copy number loss	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 151958	GRCh38/hg38 8q12.1-12.2(chr8:54821357-61146302)x1	BPNT2, CA8 +175 more	Copy number loss	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 148601	GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3	ASPH, BHLHE22 +222 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 more	Copy number gain	See cases	GPathogenic
Select item 60362	GRCh38/hg38 8q12.1(chr8:55423413-58836753)x1	BPNT2, CERNA3 +105 more	Copy number loss	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 56