Related gene-specific medical variations for Gene (Select 1869) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3086733	NM_005225.3(E2F1):c.231T>G (p.Ser77Arg)	E2F1, LOC130065689 (S77R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086732	NM_005225.3(E2F1):c.182C>G (p.Pro61Arg)	E2F1, LOC130065689 (P61R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545207	NM_005225.3(E2F1):c.232G>T (p.Ala78Ser)	E2F1, LOC130065689 (A78S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527554	NM_005225.3(E2F1):c.199G>C (p.Ala67Pro)	E2F1, LOC130065689 (A67P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332142	NM_005225.3(E2F1):c.226C>T (p.Pro76Ser)	E2F1, LOC130065689 (P76S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785836	NM_005225.3(E2F1):c.261+10C>T	E2F1, LOC130065689	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 734667	NM_005225.3(E2F1):c.234G>C (p.Ala78=)	E2F1, LOC130065689	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 729545	NM_005225.3(E2F1):c.34T>A (p.Cys12Ser)	E2F1, LOC130065690 (C12S)	Single nucleotide variant (missense variant)	not provided	GBenign

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