"Ambry Genetics"[submitter] AND "UGT1A5"[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2218190	NM_019078.2(UGT1A5):c.13C>A (p.Leu5Ile)	UGT1A, UGT1A10 +5 more (L5I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615931	NM_019078.2(UGT1A5):c.23C>T (p.Pro8Leu)	UGT1A, UGT1A10 +5 more (P8L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186108	NM_019078.2(UGT1A5):c.134G>A (p.Arg45Gln)	UGT1A, UGT1A10 +5 more (R45Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496017	NM_019078.2(UGT1A5):c.160A>G (p.Arg54Gly)	UGT1A, UGT1A10 +5 more (R54G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518787	NM_019078.2(UGT1A5):c.380C>G (p.Ser127Cys)	UGT1A, UGT1A10 +5 more (S127C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186109	NM_019078.2(UGT1A5):c.400A>G (p.Asn134Asp)	UGT1A, UGT1A10 +5 more (N134D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374653	NM_019078.2(UGT1A5):c.496T>C (p.Ser166Pro)	UGT1A, UGT1A10 +5 more (S166P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514875	NM_019078.2(UGT1A5):c.520A>G (p.Arg174Gly)	UGT1A, UGT1A10 +5 more (R174G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529440	NM_019078.2(UGT1A5):c.720G>C (p.Gln240His)	UGT1A, UGT1A10 +5 more (Q240H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600692	NM_019078.2(UGT1A5):c.773G>A (p.Arg258Gln)	UGT1A, UGT1A10 +5 more (R258Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552288	NM_007120.3(UGT1A4):c.11G>A (p.Gly4Glu)	UGT1A, UGT1A10 +6 more (G4E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467004	NM_007120.3(UGT1A4):c.32G>A (p.Arg11Gln)	UGT1A, UGT1A10 +6 more (R11Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3186101	NM_007120.3(UGT1A4):c.44G>T (p.Gly15Val)	UGT1A, UGT1A10 +6 more (G15V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366407	NM_007120.3(UGT1A4):c.53T>A (p.Leu18His)	UGT1A, UGT1A10 +6 more (L18H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186104	NM_007120.3(UGT1A4):c.65T>C (p.Val22Ala)	UGT1A, UGT1A10 +6 more (V22A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406536	NM_007120.3(UGT1A4):c.140C>T (p.Ala47Val)	UGT1A, UGT1A10 +6 more (A47V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3186099	NM_007120.3(UGT1A4):c.157G>T (p.Ala53Ser)	UGT1A, UGT1A10 +6 more (A53S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297777	NM_007120.3(UGT1A4):c.158C>G (p.Ala53Gly)	UGT1A, UGT1A10 +6 more (A53G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186100	NM_007120.3(UGT1A4):c.167A>G (p.His56Arg)	UGT1A, UGT1A10 +6 more (H56R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465817	NM_007120.3(UGT1A4):c.257A>G (p.Gln86Arg)	UGT1A, UGT1A10 +6 more (Q86R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459401	NM_007120.3(UGT1A4):c.274G>A (p.Val92Ile)	UGT1A, UGT1A10 +6 more (V92I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483405	NM_007120.3(UGT1A4):c.295G>C (p.Gly99Arg)	UGT1A, UGT1A10 +6 more (G99R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467792	NM_007120.3(UGT1A4):c.334A>G (p.Arg112Gly)	UGT1A, UGT1A10 +6 more (R112G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495923	NM_007120.3(UGT1A4):c.348T>G (p.Ile116Met)	UGT1A, UGT1A10 +6 more (I116M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186103	NM_007120.3(UGT1A4):c.460G>T (p.Val154Phe)	UGT1A, UGT1A10 +6 more (V154F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366207	NM_007120.3(UGT1A4):c.476C>T (p.Ala159Val)	UGT1A, UGT1A10 +6 more (A159V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309708	NM_007120.3(UGT1A4):c.685G>T (p.Ala229Ser)	UGT1A, UGT1A10 +6 more (A229S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186105	NM_007120.3(UGT1A4):c.711G>C (p.Glu237Asp)	UGT1A, UGT1A10 +6 more (E237D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464085	NM_007120.3(UGT1A4):c.745G>C (p.Val249Leu)	UGT1A, UGT1A10 +6 more (V249L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2464086	NM_007120.3(UGT1A4):c.751T>C (p.Tyr251His)	UGT1A, UGT1A10 +6 more (Y251H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3186106	NM_007120.3(UGT1A4):c.803C>T (p.Pro268Leu)	UGT1A, UGT1A10 +6 more (P268L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330833	NM_007120.3(UGT1A4):c.820G>T (p.Val274Phe)	UGT1A, UGT1A10 +6 more (V274F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186107	NM_007120.3(UGT1A4):c.862T>C (p.Ser288Pro)	UGT1A, UGT1A10 +6 more (S288P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598606	NM_019093.4(UGT1A3):c.29C>T (p.Pro10Leu)	UGT1A, UGT1A10 +7 more (P10L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551367	NM_019093.4(UGT1A3):c.131T>A (p.Met44Lys)	UGT1A, UGT1A10 +7 more (M44K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486671	NM_019093.4(UGT1A3):c.235A>T (p.Thr79Ser)	UGT1A, UGT1A10 +7 more (T79S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609730	NM_019093.4(UGT1A3):c.275A>G (p.His92Arg)	UGT1A, UGT1A10 +7 more (H92R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265164	NM_019093.4(UGT1A3):c.275A>T (p.His92Leu)	UGT1A, UGT1A10 +7 more (H92L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2334391	NM_019093.4(UGT1A3):c.298T>C (p.Tyr100His)	UGT1A, UGT1A10 +7 more (Y100H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186098	NM_019093.4(UGT1A3):c.338G>C (p.Ser113Thr)	UGT1A, UGT1A10 +7 more (S113T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2359003	NM_019093.4(UGT1A3):c.346A>G (p.Met116Val)	UGT1A, UGT1A10 +7 more (M116V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260208	NM_019093.4(UGT1A3):c.380C>G (p.Ser127Cys)	UGT1A, UGT1A10 +7 more (S127C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330832	NM_019093.4(UGT1A3):c.436T>C (p.Phe146Leu)	UGT1A, UGT1A10 +7 more (F146L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368346	NM_019093.4(UGT1A3):c.472G>A (p.Ala158Thr)	UGT1A, UGT1A10 +7 more (A158T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405281	NM_019093.4(UGT1A3):c.667A>G (p.Ile223Val)	UGT1A, UGT1A10 +7 more (I223V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330831	NM_019093.4(UGT1A3):c.819G>A (p.Met273Ile)	UGT1A, UGT1A10 +7 more (M273I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588593	NM_019093.4(UGT1A3):c.827T>C (p.Ile276Thr)	UGT1A, UGT1A10 +7 more (I276T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368239	NM_019093.4(UGT1A3):c.850A>G (p.Arg284Gly)	UGT1A, UGT1A10 +7 more (R284G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250454	NM_001072.4(UGT1A6):c.862-23551T>C	DNAJB3, UGT1A +8 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2250866	NM_001072.4(UGT1A6):c.862-23503A>T	DNAJB3, UGT1A +8 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2238547	NM_001072.4(UGT1A6):c.862-23200A>G	DNAJB3, UGT1A +8 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 597581	NM_000463.3(UGT1A1):c.22G>A (p.Gly8Arg)	UGT1A, UGT1A5 +8 more (G8R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2298018	NM_000463.3(UGT1A1):c.244C>T (p.Pro82Ser)	UGT1A, UGT1A1 +8 more (P82S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 160236	NM_000463.3(UGT1A1):c.322C>T (p.Arg108Cys)	UGT1A, UGT1A1 +8 more (R108C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 266037	NM_000463.3(UGT1A1):c.353dup (p.Asp119fs)	UGT1A10, UGT1A5 +8 more (D119fs)	Duplication (frameshift variant +1 more)	Crigler-Najjar syndrome type 1 +3 more	GPathogenic/Likely pathogenic
Select item 3330827	NM_000463.3(UGT1A1):c.390A>T (p.Leu130Phe)	UGT1A, UGT1A1 +8 more (L130F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608714	NM_000463.3(UGT1A1):c.395A>G (p.His132Arg)	UGT1A, UGT1A1 +8 more (H132R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3330826	NM_000463.3(UGT1A1):c.449C>T (p.Thr150Met)	UGT1A, UGT1A1 +8 more (T150M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2682821	NM_000463.3(UGT1A1):c.516G>T (p.Leu172Phe)	UGT1A, UGT1A1 +8 more (L172F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 290430	NM_000463.3(UGT1A1):c.577G>A (p.Val193Met)	UGT1A3, UGT1A +8 more (V193M)	Single nucleotide variant (missense variant +1 more)	Lucey-Driscoll syndrome +4 more	GUncertain significance
Select item 897407	NM_000463.3(UGT1A1):c.584G>A (p.Arg195Lys)	UGT1A, UGT1A1 +8 more (R195K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 2228156	NM_000463.3(UGT1A1):c.596C>G (p.Ser199Cys)	UGT1A, UGT1A1 +8 more (S199C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 437211	NM_000463.3(UGT1A1):c.625C>T (p.Arg209Trp)	UGT1A1, UGT1A10 +8 more (R209W)	Single nucleotide variant (missense variant +1 more)	UGT1A1-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 2219234	NM_000463.3(UGT1A1):c.673G>A (p.Val225Met)	UGT1A, UGT1A1 +8 more (V225M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 160239	NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly)	UGT1A1, UGT1A10 +8 more (V225G)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity; other
Select item 3330828	NM_000463.3(UGT1A1):c.754T>C (p.Ser252Pro)	UGT1A, UGT1A1 +8 more (S252P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491735	NM_000463.3(UGT1A1):c.793C>T (p.Pro265Ser)	UGT1A, UGT1A1 +8 more (P265S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231117	NM_000463.3(UGT1A1):c.1007G>T (p.Arg336Leu)	UGT1A, UGT1A1 +8 more (R335L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 596188	NM_000463.3(UGT1A1):c.1544G>T (p.Arg515Leu)	UGT1A8, UGT1A9 +8 more (R515L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 69