Related gene-specific medical variations for Gene (Select 81558) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2512180	NM_030802.4(FAM117A):c.47C>A (p.Pro16Gln)	FAM117A, LOC130061131 (P16Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318693	NM_030802.4(FAM117A):c.112C>T (p.Arg38Trp)	FAM117A, LOC130061131 (R38W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243088	NM_030802.4(FAM117A):c.169C>A (p.Gln57Lys)	FAM117A, LOC130061131 (Q57K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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