Related gene-specific medical variations for Gene (Select 83460) - ClinVar - NCBI

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Items: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2535886	NM_031298.4(EMC6):c.283A>C (p.Thr95Pro)	EMC6, P2RX5-TAX1BP3 (T95P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2495507	NM_031298.4(EMC6):c.23G>T (p.Arg8Leu)	EMC6, P2RX5-TAX1BP3 (R8L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364174	NM_031298.4(EMC6):c.55G>T (p.Val19Leu)	EMC6, P2RX5-TAX1BP3 (V19L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance

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