Related gene-specific medical variations for Gene (Select 317671) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2464786	NM_001131066.2(RFESD):c.325C>T (p.Arg109Cys)	RFESD, SPATA9 (R109C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388304	NM_001131066.2(RFESD):c.317T>C (p.Met106Thr)	SPATA9, RFESD (M106T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387430	NM_001131066.2(RFESD):c.250A>G (p.Arg84Gly)	SPATA9, RFESD (R31G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367480	NM_001131066.2(RFESD):c.401C>G (p.Pro134Arg)	RFESD, SPATA9 (P134R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279221	NM_001131066.2(RFESD):c.400C>T (p.Pro134Ser)	RFESD, SPATA9 (P81S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257218	NM_001131066.2(RFESD):c.325C>A (p.Arg109Ser)	SPATA9, RFESD (R109S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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