"Ambry Genetics"[submitter] AND "E2F2"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2240314	NM_004091.4(E2F2):c.1271A>G (p.Asp424Gly)	E2F2 (D424G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347985	NM_004091.4(E2F2):c.1208T>G (p.Phe403Cys)	E2F2 (F403C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216611	NM_004091.4(E2F2):c.1184C>T (p.Ala395Val)	E2F2 (A395V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086735	NM_004091.4(E2F2):c.1135C>T (p.His379Tyr)	E2F2 (H379Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619235	NM_004091.4(E2F2):c.1069C>G (p.Gln357Glu)	E2F2 (Q357E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403274	NM_004091.4(E2F2):c.1067C>T (p.Pro356Leu)	E2F2 (P356L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086734	NM_004091.4(E2F2):c.1034C>T (p.Thr345Ile)	E2F2 (T345I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304110	NM_004091.4(E2F2):c.934A>C (p.Ser312Arg)	E2F2 (S312R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274103	NM_004091.4(E2F2):c.919G>A (p.Val307Met)	E2F2 (V307M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616475	NM_004091.4(E2F2):c.887G>A (p.Gly296Glu)	E2F2 (G296E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274282	NM_004091.4(E2F2):c.854A>G (p.Asp285Gly)	E2F2 (D285G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260991	NM_004091.4(E2F2):c.797T>C (p.Val266Ala)	E2F2 (V266A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086738	NM_004091.4(E2F2):c.736A>G (p.Arg246Gly)	E2F2, LOC126805658 (R246G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561310	NM_004091.4(E2F2):c.668C>T (p.Ala223Val)	E2F2, LOC126805658 (A223V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274283	NM_004091.4(E2F2):c.616A>G (p.Lys206Glu)	E2F2, LOC126805658 (K206E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086737	NM_004091.4(E2F2):c.460G>A (p.Asp154Asn)	E2F2, LOC101928163 +1 more (D154N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2526057	NM_004091.4(E2F2):c.439G>A (p.Glu147Lys)	E2F2, LOC101928163 +1 more (E147K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2291428	NM_004091.4(E2F2):c.350G>T (p.Ser117Ile)	E2F2, LOC101928163 (S117I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301279	NM_004091.4(E2F2):c.295G>A (p.Val99Ile)	E2F2, LOC101928163 (V99I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236883	NM_004091.4(E2F2):c.292G>A (p.Val98Ile)	E2F2, LOC101928163 (V98I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599792	NM_004091.4(E2F2):c.281T>C (p.Ile94Thr)	E2F2, LOC101928163 (I94T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086736	NM_004091.4(E2F2):c.236C>G (p.Pro79Arg)	E2F2 (P79R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305439	NM_004091.4(E2F2):c.236C>T (p.Pro79Leu)	E2F2 (P79L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263193	NM_004091.4(E2F2):c.62C>T (p.Ala21Val)	E2F2 (A21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247125	NM_004091.4(E2F2):c.37G>C (p.Gly13Arg)	E2F2 (G13R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274281	NM_004091.4(E2F2):c.13C>T (p.Pro5Ser)	E2F2 (P5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 26