ClinVar for Gene (Select 83444) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3109752	NM_031288.4(INO80B):c.83C>T (p.Ala28Val)	INO80B, INO80B-WBP1 (A28V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3109751	NM_031288.4(INO80B):c.577C>T (p.Pro193Ser)	INO80B, INO80B-WBP1 (P193S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3109750	NM_031288.4(INO80B):c.22G>A (p.Gly8Arg)	INO80B, INO80B-WBP1 +1 more (G8R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3109749	NM_031288.4(INO80B):c.199C>T (p.Pro67Ser)	INO80B, INO80B-WBP1 (P67S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3109748	NM_031288.4(INO80B):c.1061T>G (p.Leu354Trp)	INO80B, INO80B-WBP1 (L354W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 2555962	NM_031288.4(INO80B):c.902C>G (p.Ser301Cys)	INO80B, INO80B-WBP1 (S301C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2555836	NM_031288.4(INO80B):c.86G>A (p.Gly29Asp)	INO80B, INO80B-WBP1 (G29D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2547595	NM_031288.4(INO80B):c.770C>T (p.Ala257Val)	INO80B, INO80B-WBP1 +1 more (A257V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2541315	NM_031288.4(INO80B):c.736G>A (p.Ala246Thr)	INO80B, INO80B-WBP1 +1 more (A246T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2538568	NM_031288.4(INO80B):c.563G>A (p.Arg188Gln)	INO80B, INO80B-WBP1 (R188Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2520996	NM_031288.4(INO80B):c.916C>T (p.Pro306Ser)	INO80B, INO80B-WBP1 (P306S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2498869	GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1	ACTG2, ALMS1 +35 more	Copy number loss	not provided	GUncertain significance
Select item 2484759	NM_031288.4(INO80B):c.517G>A (p.Glu173Lys)	INO80B, INO80B-WBP1 (E173K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2483346	NM_031288.4(INO80B):c.919C>T (p.Pro307Ser)	INO80B, INO80B-WBP1 (P307S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2470447	NM_031288.4(INO80B):c.172G>A (p.Gly58Arg)	INO80B, INO80B-WBP1 (G58R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2467646	NM_031288.4(INO80B):c.823T>C (p.Tyr275His)	INO80B, INO80B-WBP1 +1 more (Y275H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 2425561	NC_000002.11:g.(?_72359356)_(74779761_?)del	INO80B, LBX2 +42 more	Deletion	not provided	GPathogenic
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 2406425	NM_031288.4(INO80B):c.953G>T (p.Arg318Leu)	INO80B, INO80B-WBP1 (R318L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2366318	NM_031288.4(INO80B):c.571C>T (p.Pro191Ser)	INO80B, INO80B-WBP1 (P191S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2304382	NM_031288.4(INO80B):c.907T>A (p.Ser303Thr)	INO80B, INO80B-WBP1 (S303T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2291290	NM_031288.4(INO80B):c.512T>C (p.Ile171Thr)	INO80B, INO80B-WBP1 (I171T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2290164	NM_031288.4(INO80B):c.913C>G (p.Pro305Ala)	INO80B, INO80B-WBP1 (P305A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2286533	NM_031288.4(INO80B):c.802G>A (p.Ala268Thr)	INO80B, INO80B-WBP1 +1 more (A268T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2270815	NM_031288.4(INO80B):c.559G>T (p.Ala187Ser)	INO80B, INO80B-WBP1 (A187S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2265799	NM_031288.4(INO80B):c.814A>T (p.Met272Leu)	INO80B, INO80B-WBP1 +1 more (M272L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic
Select item 155389	GRCh38/hg38 2p13.1-12(chr2:74375779-75517520)x1	AUP1, C2orf81 +86 more	Copy number loss	See cases	GLikely pathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 147468	GRCh38/hg38 2p13.1-12(chr2:74432069-75181627)x3	AUP1, CCDC142 +66 more	Copy number gain	See cases	GUncertain significance
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 40