Related gene-specific medical variations for Gene (Select 101928445) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2599264	NM_025158.5(RUFY1):c.1735C>A (p.Leu579Met)	LOC128966623, RUFY1 +1 more (L471M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558698	NM_025158.5(RUFY1):c.1543G>A (p.Ala515Thr)	LOC128966623, RUFY1 +1 more (A407T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523266	NM_025158.5(RUFY1):c.1810G>A (p.Glu604Lys)	LOC128966623, RUFY1 +1 more (E496K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382367	NM_025158.5(RUFY1):c.1594G>A (p.Ala532Thr)	LOC128966623, RUFY1 +1 more (A532T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377294	NM_025158.5(RUFY1):c.1528C>T (p.Arg510Trp)	LOC128966623, RUFY1 +1 more (R402W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2303932	NM_025158.5(RUFY1):c.1529G>A (p.Arg510Gln)	LOC128966623, RUFY1 +1 more (R402Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264105	NM_025158.5(RUFY1):c.1666G>C (p.Glu556Gln)	LOC128966623, RUFY1 +1 more (E448Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar