"GeneDx"[submitter] AND "LOC130063256"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	GPathogenic
Select item 1526386	NM_205767.3(MICOS13):c.150del (p.Ala51fs)	LOC130063256, MICOS13 (A51fs +1 more)	Deletion (frameshift variant)	Combined oxidative phosphorylation deficiency 37 +1 more	GConflicting classifications of pathogenicity

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