ClinVar for MedGen (Select 896157) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233393	NM_003325.4(HIRA):c.41A>G (p.Lys14Arg)	HIRA (K14R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group T	GUncertain significance
Select item 1269291	NM_014176.4(UBE2T):c.15A>G (p.Ser5=)	UBE2T	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 929630	NM_014176.3(UBE2T):c.-65+1253_*12383del	LGR6, UBE2T	Deletion	Fanconi anemia complementation group T	GPathogenic
Select item 929629	NM_014176.4(UBE2T):c.110-280_468+264dup	UBE2T	Duplication (splice acceptor variant +1 more)	Fanconi anemia complementation group T	GPathogenic
Select item 929628	NM_014176.4(UBE2T):c.110-280_468+264del	UBE2T	Deletion (splice acceptor variant +1 more)	Fanconi anemia complementation group T	GPathogenic
Select item 199437	NM_014176.4(UBE2T):c.179+5G>A	UBE2T	Single nucleotide variant (intron variant)	Fanconi anemia complementation group T	GPathogenic
Select item 199436	NM_014176.4(UBE2T):c.4C>G (p.Gln2Glu)	UBE2T (Q2E)	Single nucleotide variant (5 prime UTR variant +1 more)	Fanconi anemia complementation group T	GPathogenic

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