Related gene-specific medical variations for Gene (Select 79148) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2407592	NM_145272.4(C17orf50):c.511G>C (p.Ala171Pro)	C17orf50, MMP28 (A171P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358508	NM_145272.4(C17orf50):c.225G>C (p.Gln75His)	C17orf50, LOC130060736 +1 more (Q75H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349593	NM_145272.4(C17orf50):c.185G>A (p.Gly62Asp)	C17orf50, LOC130060736 +1 more (G62D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301989	NM_145272.4(C17orf50):c.314T>C (p.Leu105Pro)	C17orf50, LOC130060736 +1 more (L105P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253283	NM_145272.4(C17orf50):c.356C>T (p.Pro119Leu)	C17orf50, LOC130060736 +1 more (P119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248117	NM_145272.4(C17orf50):c.386C>T (p.Pro129Leu)	C17orf50, LOC130060736 +1 more (P129L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246976	NM_145272.4(C17orf50):c.76G>A (p.Glu26Lys)	C17orf50, MMP28 (E26K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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