ClinVar for Gene (Select 137886) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330743	NM_001077619.2(UBXN2B):c.41G>C (p.Arg14Thr)	UBXN2B (R14T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330742	NM_001077619.2(UBXN2B):c.962T>C (p.Ile321Thr)	UBXN2B (I275T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330741	NM_001077619.2(UBXN2B):c.488A>G (p.Tyr163Cys)	UBXN2B (Y163C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185917	NM_001077619.2(UBXN2B):c.172C>T (p.Arg58Trp)	UBXN2B (R58W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185916	NM_001077619.2(UBXN2B):c.111T>A (p.Asp37Glu)	UBXN2B (D37E)	Single nucleotide variant (missense variant +1 more)	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 2600406	NM_001077619.2(UBXN2B):c.17G>C (p.Gly6Ala)	LOC130000441, UBXN2B (G6A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2567599	NM_001077619.2(UBXN2B):c.727A>G (p.Ile243Val)	UBXN2B (I197V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542643	NM_001077619.2(UBXN2B):c.435G>T (p.Leu145Phe)	UBXN2B (L145F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528192	NM_001077619.2(UBXN2B):c.17G>T (p.Gly6Val)	LOC130000441, UBXN2B (G6V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513850	NM_001077619.2(UBXN2B):c.801T>A (p.Ser267Arg)	UBXN2B (S267R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461045	NM_001077619.2(UBXN2B):c.646A>G (p.Ser216Gly)	UBXN2B (S216G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2395867	NM_001077619.2(UBXN2B):c.187C>T (p.Arg63Trp)	UBXN2B (R63W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387897	NM_001077619.2(UBXN2B):c.74G>A (p.Arg25Gln)	LOC130000442, UBXN2B (R25Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382750	NM_001077619.2(UBXN2B):c.24G>T (p.Glu8Asp)	LOC130000441, UBXN2B (E8D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2318792	NM_001077619.2(UBXN2B):c.731T>C (p.Leu244Pro)	UBXN2B (L244P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273114	NM_001077619.2(UBXN2B):c.184C>G (p.Gln62Glu)	UBXN2B (Q62E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249479	NM_001077619.2(UBXN2B):c.901G>T (p.Val301Leu)	UBXN2B (V255L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222021	NM_001077619.2(UBXN2B):c.341C>T (p.Ser114Leu)	UBXN2B (S114L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205760	NM_001077619.2(UBXN2B):c.724T>A (p.Ser242Thr)	UBXN2B (S242T +1 more)	Single nucleotide variant (missense variant +1 more)	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 1527433	GRCh37/hg19 8q12.1(chr8:58247706-60355217)	CYP7A1, FAM110B +5 more	Copy number loss	not specified	GUncertain significance
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 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 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 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	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 60363	GRCh38/hg38 8q12.1-12.3(chr8:56925812-61691859)x1	ASPH, BPNT2 +108 more	Copy number loss	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 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	ADHFE1, ARFGEF1 +421 more	Copy number gain	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: 46