"Ambry Genetics"[submitter] AND "TGIF2-RAB5IF"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2494520	NM_021809.7(TGIF2):c.28G>A (p.Glu10Lys)	TGIF2, TGIF2-RAB5IF (E10K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530805	NM_021809.7(TGIF2):c.263C>A (p.Pro88His)	TGIF2, TGIF2-RAB5IF (P88H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400407	NM_021809.7(TGIF2):c.287G>A (p.Arg96His)	TGIF2-RAB5IF, TGIF2 (R96H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2248199	NM_021809.7(TGIF2):c.311C>T (p.Ala104Val)	TGIF2, TGIF2-RAB5IF (A104V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457286	NM_021809.7(TGIF2):c.337G>A (p.Val113Met)	TGIF2, TGIF2-RAB5IF (V113M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2312347	NM_021809.7(TGIF2):c.673C>G (p.Leu225Val)	TGIF2, TGIF2-RAB5IF (L225V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar