ATP5MC2[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2549485	NM_005176.7(ATP5MC2):c.376A>C (p.Met126Leu)	ATP5MC2 (M88L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532922	NM_005176.7(ATP5MC2):c.322C>G (p.Leu108Val)	ATP5MC2 (L124V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131705	NM_005176.7(ATP5MC2):c.269G>A (p.Gly90Glu)	ATP5MC2 (G52E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131704	NM_005176.7(ATP5MC2):c.205G>A (p.Asp69Asn)	ATP5MC2 (D85N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3131703	NM_005176.7(ATP5MC2):c.191T>C (p.Ile64Thr)	ATP5MC2 (F27L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329376	NM_005176.7(ATP5MC2):c.126C>G (p.Ser42Arg)	ATP5MC2 (S42R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131702	NM_005176.7(ATP5MC2):c.124A>G (p.Ser42Gly)	ATP5MC2 (S4G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2552528	NM_005176.7(ATP5MC2):c.71C>T (p.Pro24Leu)	ATP5MC2 (P24L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2458973	NM_005176.7(ATP5MC2):c.68G>A (p.Arg23His)	ATP5MC2 (R21H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3131701	NM_005176.7(ATP5MC2):c.11G>A (p.Cys4Tyr)	ATP5MC2 (C20Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3131700	NM_005176.7(ATP5MC2):c.-9C>T	ATP5MC2 (P14S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance