12737[HGNC] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	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 147468	GRCh38/hg38 2p13.1-12(chr2:74432069-75181627)x3	AUP1, CCDC142 +66 more	Copy number gain	See cases	GUncertain significance
Select item 3189683	NM_012477.4(WBP1):c.31G>A (p.Glu11Lys)	INO80B-WBP1, WBP1 (E11K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332598	NM_012477.4(WBP1):c.37G>C (p.Ala13Pro)	INO80B-WBP1, WBP1 (A13P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332599	NM_012477.4(WBP1):c.55G>A (p.Ala19Thr)	INO80B-WBP1, WBP1 (A19T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606391	NM_012477.4(WBP1):c.103C>T (p.Pro35Ser)	INO80B-WBP1, WBP1 (P35S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3189681	NM_012477.4(WBP1):c.117G>C (p.Glu39Asp)	INO80B-WBP1, WBP1 (E39D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2353112	NM_012477.4(WBP1):c.119G>A (p.Ser40Asn)	INO80B-WBP1, WBP1 (S40N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2379653	NM_012477.4(WBP1):c.226C>T (p.Arg76Cys)	INO80B-WBP1, WBP1 (R76C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2237716	NM_012477.4(WBP1):c.233G>A (p.Arg78Gln)	INO80B-WBP1, WBP1 (R78Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3189682	NM_012477.4(WBP1):c.265C>T (p.Arg89Trp)	INO80B-WBP1, WBP1 (R89W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2551154	NM_012477.4(WBP1):c.328A>G (p.Thr110Ala)	INO80B-WBP1, WBP1 (T110A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2334393	NM_012477.4(WBP1):c.418C>T (p.Pro140Ser)	INO80B-WBP1, WBP1 (P140S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3332601	NM_012477.4(WBP1):c.437G>A (p.Gly146Asp)	INO80B-WBP1, WBP1 (G146D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2250985	NM_012477.4(WBP1):c.462A>T (p.Glu154Asp)	INO80B-WBP1, WBP1 (E154D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2292625	NM_012477.4(WBP1):c.542G>C (p.Ser181Thr)	INO80B-WBP1, WBP1 (S181T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3332600	NM_012477.4(WBP1):c.551C>G (p.Pro184Arg)	INO80B-WBP1, WBP1 (P184R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3189684	NM_012477.4(WBP1):c.610C>T (p.Arg204Cys)	INO80B-WBP1, WBP1 (R204C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2281934	NM_012477.4(WBP1):c.617G>A (p.Arg206His)	INO80B-WBP1, WBP1 (R206H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2362645	NM_012477.4(WBP1):c.619C>T (p.Arg207Cys)	INO80B-WBP1, WBP1 (R207C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3189685	NM_012477.4(WBP1):c.646C>T (p.Leu216Phe)	INO80B-WBP1, WBP1 (L216F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2366143	NM_012477.4(WBP1):c.682G>T (p.Val228Phe)	INO80B-WBP1, WBP1 (V228F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3189686	NM_012477.4(WBP1):c.761C>T (p.Pro254Leu)	INO80B-WBP1, WBP1 (P254L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2256900	NM_012477.4(WBP1):c.805C>T (p.Pro269Ser)	INO80B-WBP1, WBP1 (P269S)	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 2498869	GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1	CCDC142, DCTN1 +35 more	Copy number loss	not provided	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	ACTG2, ALMS1 +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 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

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Items: 39