ClinVar for OMIM (Select 617442) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065532	NM_172166.4(MSH5):c.542G>A (p.Arg181Gln)	MSH5, MSH5-SAPCD1 (R181Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Premature ovarian failure 13	GUncertain significance
Select item 417969	NM_172166.4(MSH5):c.1459G>T (p.Asp487Tyr)	MSH5, MSH5-SAPCD1 (D487Y +1 more)	Single nucleotide variant (missense variant +1 more)	Premature ovarian failure 13	GPathogenic