ClinVar for Gene (Select 129936948) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 669536	NM_000925.4(PDHB):c.792+172A>T	LOC129936948, PDHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 653525	NC_000003.12:g.(?_58428014)_(58431813_?)del	LOC129936948, PDHB	Deletion	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 150755	GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1	ABHD6, ACOX2 +155 more	Copy number loss	See cases	GPathogenic
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +218 more	Copy number loss	See cases	GPathogenic

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