ClinVar for MedGen (Select 1056645) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370408	NM_001170698.2(SPATA22):c.900+1G>A	SPATA22	Single nucleotide variant (splice donor variant +1 more)	PREMATURE OVARIAN FAILURE 25	GPathogenic
Select item 3370407	NM_001170698.2(SPATA22):c.31C>T (p.Arg11Ter)	SPATA22 (R11*)	Single nucleotide variant (nonsense)	PREMATURE OVARIAN FAILURE 25	GPathogenic
Select item 3370406	NM_001170698.2(SPATA22):c.400C>T (p.Arg134Ter)	SPATA22 (R134* +2 more)	Single nucleotide variant (nonsense)	SPERMATOGENIC FAILURE 96 +1 more	GPathogenic

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