30712[HGNC] - ClinVar

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Items: 24

	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 1707458	Single allele	AAK1, ADD2 +107 more	Duplication	not specified	GUncertain significance
Select item 144474	GRCh38/hg38 2p13.3-13.2(chr2:70709155-72346899)x3	ADD2, ANKRD53 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2336448	NM_144582.3(TEX261):c.584T>C (p.Ile195Thr)	TEX261 (I195T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364259	NM_144582.3(TEX261):c.434C>T (p.Ser145Leu)	TEX261 (S145L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176385	NM_144582.3(TEX261):c.235G>A (p.Val79Ile)	TEX261 (V79I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259647	NM_144582.3(TEX261):c.207G>A (p.Met69Ile)	TEX261 (M69I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382771	NM_144582.3(TEX261):c.170T>C (p.Ile57Thr)	TEX261 (I57T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278700	NM_144582.3(TEX261):c.160G>T (p.Ala54Ser)	TEX261 (A54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289365	NM_144582.3(TEX261):c.119C>T (p.Ala40Val)	TEX261 (A40V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176388	NM_144582.3(TEX261):c.64G>A (p.Ala22Thr)	LOC129934054, TEX261 (A22T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176387	NM_144582.3(TEX261):c.29T>C (p.Leu10Pro)	LOC129934054, TEX261 (L10P)	Single nucleotide variant (missense 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 2498868	GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1	AAK1, ACTR2 +43 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 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 685892	GRCh37/hg19 2p13.3-13.2(chr2:71164124-71535431)x3	ANKRD53, ATP6V1B1 +5 more	Copy number gain	not provided	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

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Items: 24