Related gene-specific medical variations for Gene (Select 54749) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275859	NM_017549.5(EPDR1):c.223C>A (p.Arg75Ser)	EPDR1, LOC129998266 (R75S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275856	NM_017549.5(EPDR1):c.219C>G (p.Asn73Lys)	EPDR1, LOC129998266 (N73K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089473	NM_017549.5(EPDR1):c.13G>T (p.Ala5Ser)	EPDR1, LOC129998266 (A5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515796	NM_017549.5(EPDR1):c.139C>A (p.Gln47Lys)	EPDR1, LOC129998266 (Q47K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472026	NM_017549.5(EPDR1):c.56T>C (p.Leu19Pro)	EPDR1, LOC129998266 (L19P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266881	NM_017549.5(EPDR1):c.116C>A (p.Pro39Gln)	EPDR1, LOC129998266 (P39Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238345	NM_017549.5(EPDR1):c.179G>C (p.Gly60Ala)	EPDR1, LOC129998266 (G60A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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