"Ambry Genetics"[submitter] AND "UGT2A2"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2374899	NM_001252275.3(UGT2A1):c.1463C>A (p.Ser488Tyr)	UGT2A2, UGT2A1 (S444Y +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343860	NM_001105677.2(UGT2A2):c.824G>A (p.Arg275His)	UGT2A2, UGT2A1 (R266H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512349	NM_001105677.2(UGT2A2):c.637A>G (p.Met213Val)	UGT2A1, UGT2A2 (M213V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406614	NM_001105677.2(UGT2A2):c.451G>C (p.Gly151Arg)	UGT2A2, UGT2A1 (G151R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209279	NM_001105677.2(UGT2A2):c.440G>A (p.Arg147Lys)	UGT2A2, UGT2A1 (R147K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227882	NM_001105677.2(UGT2A2):c.353A>G (p.Lys118Arg)	UGT2A2, UGT2A1 (K118R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2468684	NM_001105677.2(UGT2A2):c.205T>C (p.Phe69Leu)	UGT2A1, UGT2A2 (F69L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316791	NM_001105677.2(UGT2A2):c.140T>C (p.Ile47Thr)	UGT2A2, UGT2A1 (I47T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2621636	NM_001105677.2(UGT2A2):c.133A>G (p.Ile45Val)	UGT2A1, UGT2A2 (I45V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327526	NM_001105677.2(UGT2A2):c.26T>G (p.Met9Arg)	UGT2A2, UGT2A1 (M9R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2617714	NM_001105677.2(UGT2A2):c.10A>G (p.Ile4Val)	UGT2A1, UGT2A2 (I4V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance