ClinVar for Gene (Select 51471) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3298485	NR_132338.2(NAT8B):n.362C>G	NAT8B	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3298484	NR_132338.2(NAT8B):n.703C>T	NAT8B	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3298482	NR_132338.2(NAT8B):n.415C>T	NAT8B	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3298481	NR_132338.2(NAT8B):n.266T>C	NAT8B	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3176576	NR_132338.2(NAT8B):n.283G>T	NAT8B	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3176564	NR_132338.2(NAT8B):n.760A>C	NAT8B	Single nucleotide variant (non-coding transcript variant)	not specified	GLikely benign
Select item 3176550	NR_132338.2(NAT8B):n.614G>A	NAT8B	Single nucleotide variant (non-coding transcript variant)	not specified	GLikely benign
Select item 3176527	NR_132338.2(NAT8B):n.460T>A	NAT8B	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3176521	NR_132338.2(NAT8B):n.455C>T	NAT8B	Single nucleotide variant (non-coding transcript variant)	not specified	GLikely benign
Select item 3176506	NR_132338.2(NAT8B):n.355G>C	NAT8B	Single nucleotide variant (non-coding transcript variant)	not specified	GLikely benign
Select item 3176497	NR_132338.2(NAT8B):n.347T>A	NAT8B	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3176485	NR_132338.2(NAT8B):n.314T>C	NAT8B	Single nucleotide variant (non-coding transcript variant)	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 2600297	NR_132338.2(NAT8B):n.470T>C	NAT8B	Single nucleotide variant (non-coding transcript variant)	not specified	GLikely benign
Select item 2551749	NR_132338.2(NAT8B):n.275G>A	NAT8B	Single nucleotide variant (non-coding transcript variant)	not specified	GLikely benign
Select item 2542367	NR_132338.2(NAT8B):n.451T>C	NAT8B	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2533914	NR_132338.2(NAT8B):n.835C>T	NAT8B	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2529310	NR_132338.2(NAT8B):n.421C>G	NAT8B	Single nucleotide variant (non-coding transcript variant)	not specified	GLikely benign
Select item 2528918	NR_132338.2(NAT8B):n.521G>T	NAT8B	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2527519	NR_132338.2(NAT8B):n.487A>G	NAT8B	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2516334	NR_132338.2(NAT8B):n.464T>C	NAT8B	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
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 2465203	NR_132338.2(NAT8B):n.658C>A	NAT8B	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2463371	NR_132338.2(NAT8B):n.311G>A	NAT8B	Single nucleotide variant (non-coding transcript variant)	not specified	GLikely benign
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 2403695	NR_132338.2(NAT8B):n.218A>G	NAT8B	Single nucleotide variant	not specified	GUncertain significance
Select item 2401985	NR_132338.2(NAT8B):n.874C>G	NAT8B	Single nucleotide variant	not specified	GUncertain significance
Select item 2395197	NR_132338.2(NAT8B):n.883C>A	NAT8B	Single nucleotide variant	not specified	GUncertain significance
Select item 2384585	NR_132338.2(NAT8B):n.479G>A	NAT8B	Single nucleotide variant	not specified	GUncertain significance
Select item 2357878	NR_132338.2(NAT8B):n.307C>T	NAT8B	Single nucleotide variant	not specified	GLikely benign
Select item 2348520	NR_132338.2(NAT8B):n.352G>T	NAT8B	Single nucleotide variant	not specified	GUncertain significance
Select item 2332961	NR_132338.2(NAT8B):n.764G>C	NAT8B	Single nucleotide variant	not specified	GLikely benign
Select item 2302765	NR_132338.2(NAT8B):n.398T>C	NAT8B	Single nucleotide variant	not specified	GUncertain significance
Select item 2275722	NR_132338.2(NAT8B):n.548C>A	NAT8B	Single nucleotide variant	not specified	GUncertain significance
Select item 2239770	NR_132338.2(NAT8B):n.836T>G	NAT8B	Single nucleotide variant	not specified	GUncertain significance
Select item 2219910	NR_132338.2(NAT8B):n.218A>T	NAT8B	Single nucleotide variant	not specified	GUncertain significance
Select item 2209021	NR_132338.2(NAT8B):n.651C>G	NAT8B	Single nucleotide variant	not specified	GUncertain significance
Select item 2205296	NR_132338.2(NAT8B):n.259G>A	NAT8B	Single nucleotide variant	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 1526818	GRCh37/hg19 2p13.2-13.1(chr2:73477212-74065941)	ALMS1, C2orf78 +8 more	Copy number loss	not specified	GUncertain significance
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 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

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Links from Gene

Items: 49