"GeneDx"[submitter] AND "LOC130004618"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58780	GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1	ACTR1A, ARL3 +121 more	Copy number loss	See cases	GPathogenic
Select item 3252861	NM_030912.3(TRIM8):c.133A>G (p.Lys45Glu)	LOC130004618, TRIM8 (K45E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1318558	NM_030912.3(TRIM8):c.154T>A (p.Cys52Ser)	LOC130004618, TRIM8 (C52S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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