Related gene-specific medical variations for Gene (Select 54657) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367007	NM_000463.3(UGT1A1):c.1544G>A (p.Arg515Gln)	UGT1A, UGT1A1 +8 more (R247Q +4 more)	Single nucleotide variant (missense variant)	Lucey-Driscoll syndrome	GUncertain significance
Select item 3357706	NM_000463.3(UGT1A1):c.576C>T (p.Tyr192=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	UGT1A1-related disorder	GLikely benign
Select item 3357567	NM_000463.3(UGT1A1):c.864+5G>T	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	UGT1A1-related disorder	GLikely pathogenic
Select item 3357495	NM_000463.3(UGT1A1):c.161G>T (p.Gly54Val)	UGT1A, UGT1A1 +8 more (G54V)	Single nucleotide variant (missense variant +1 more)	UGT1A1-related disorder	GUncertain significance
Select item 3349632	NM_000463.3(UGT1A1):c.996+23C>G	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	UGT1A1-related disorder	GLikely benign
Select item 3349302	NM_000463.3(UGT1A1):c.996+24C>G	UGT1A5, UGT1A +8 more	Single nucleotide variant (intron variant)	UGT1A1-related disorder	GLikely benign
Select item 3347827	NM_000463.3(UGT1A1):c.1524A>G (p.Lys508=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant)	UGT1A1-related disorder	GLikely benign
Select item 3347178	NM_000463.3(UGT1A1):c.1435del (p.His479fs)	UGT1A, UGT1A1 +8 more (H211fs +4 more)	Deletion (frameshift variant)	UGT1A1-related disorder	GLikely pathogenic
Select item 3347138	NM_000463.3(UGT1A1):c.807G>A (p.Met269Ile)	UGT1A, UGT1A1 +8 more (M269I)	Single nucleotide variant (missense variant +1 more)	UGT1A1-related disorder	GUncertain significance
Select item 3347050	NM_000463.3(UGT1A1):c.950A>G (p.Lys317Arg)	UGT1A, UGT1A1 +8 more (K314R +4 more)	Single nucleotide variant (missense variant)	UGT1A1-related disorder	GUncertain significance
Select item 3346245	NM_000463.3(UGT1A1):c.700_701delinsAA (p.Ala234Asn)	UGT1A, UGT1A1 +8 more (A234N)	Indel (missense variant +1 more)	UGT1A1-related disorder	GUncertain significance
Select item 3346165	NM_000463.3(UGT1A1):c.755_756del (p.Ser252fs)	UGT1A, UGT1A1 +8 more (S252fs)	Deletion (frameshift variant +1 more)	UGT1A1-related disorder	GPathogenic
Select item 3339532	NM_000463.3(UGT1A1):c.554A>C (p.Gln185Pro)	UGT1A, UGT1A1 +8 more (Q185P)	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 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 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 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 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 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 3256186	NM_000463.3(UGT1A1):c.185C>G (p.Pro62Arg)	UGT1A, UGT1A1 +8 more (P62R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242206	NM_000463.3(UGT1A1):c.247T>C (p.Phe83Leu)	UGT1A, UGT1A1 +8 more (F83L)	Single nucleotide variant (missense variant +1 more)	Crigler-Najjar syndrome type 1 +1 more	GPathogenic/Likely pathogenic
Select item 3235021	NM_000463.3(UGT1A1):c.92T>G (p.Leu31Arg)	UGT1A1, UGT1A +8 more (L31R)	Single nucleotide variant (missense variant +1 more)	Crigler-Najjar syndrome type 1	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 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 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 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 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 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 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 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 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 3066040	NM_000463.3(UGT1A1):c.1216_1225del (p.Thr406fs)	UGT1A, UGT1A1 +8 more (T138fs +4 more)	Deletion (frameshift variant)	Crigler-Najjar syndrome, type II +3 more	GPathogenic
Select item 3057417	NC_000002.12:g.233756997A>G	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	UGT1A1-related disorder	GLikely benign
Select item 3054763	NM_000463.3(UGT1A1):c.21C>T (p.Gly7=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	UGT1A1-related disorder	GLikely benign
Select item 3054675	NM_000463.3(UGT1A1):c.864+10G>A	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	UGT1A1-related disorder	GLikely benign
Select item 3053921	NM_000463.3(UGT1A1):c.1047G>A (p.Thr349=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant)	UGT1A1-related disorder	GLikely benign
Select item 3042221	NM_007120.3(UGT1A4):c.1425G>A (p.Leu475=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant)	UGT1A4-related disorder	GLikely benign
Select item 3040289	NM_000463.3(UGT1A1):c.125G>A (p.Ser42Asn)	UGT1A, UGT1A1 +8 more (S42N)	Single nucleotide variant (missense variant +1 more)	UGT1A1-related disorder	GUncertain significance
Select item 3032879	NM_000463.3(UGT1A1):c.78T>C (p.His26=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	UGT1A1-related disorder	GLikely benign
Select item 3032638	NM_000463.3(UGT1A1):c.1353G>A (p.Pro451=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant)	UGT1A1-related disorder	GLikely benign
Select item 3031294	NM_021027.3(UGT1A9):c.918A>G (p.Ser306=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant)	UGT1A9-related disorder	GLikely benign
Select item 3030595	NM_000463.3(UGT1A1):c.45G>C (p.Leu15=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	UGT1A1-related disorder	GLikely benign
Select item 3029932	NM_000463.3(UGT1A1):c.196T>C (p.Leu66=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	UGT1A1-related disorder	GLikely benign
Select item 3029105	NC_000002.12:g.233758933C>T	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	UGT1A1-related disorder	GLikely benign
Select item 3028950	NM_000463.3(UGT1A1):c.1038G>A (p.Ala346=)	UGT1A, UGT1A3 +8 more	Single nucleotide variant (synonymous variant)	UGT1A1-related disorder	GLikely benign
Select item 3025340	NM_019093.4(UGT1A3):c.396A>G (p.Leu132=)	UGT1A, UGT1A10 +7 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3021895	NM_000463.3(UGT1A1):c.1319T>A (p.Ile440Asn)	UGT1A, UGT1A1 +8 more (I439N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2921109	NM_000463.3(UGT1A1):c.1211T>C (p.Met404Thr)	UGT1A, UGT1A1 +8 more (M403T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2921095	NM_019076.5(UGT1A8):c.1299C>T (p.Tyr433=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920967	NM_019076.5(UGT1A8):c.1075+20T>G	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920928	NM_019076.5(UGT1A8):c.1502T>A (p.Phe501Tyr)	UGT1A, UGT1A1 +8 more (F503Y +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909068	NM_000463.3(UGT1A1):c.1590C>T (p.Ser530=)	UGT1A3, UGT1A +8 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898004	NM_000463.3(UGT1A1):c.1229G>A (p.Gly410Glu)	UGT1A4, UGT1A5 +8 more (G411E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890537	NM_000463.3(UGT1A1):c.977T>C (p.Leu326Ser)	UGT1A, UGT1A1 +8 more (L325S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884836	NM_000463.3(UGT1A1):c.1491C>T (p.Ala497=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884494	NM_000463.3(UGT1A1):c.687G>A (p.Pro229=)	UGT1A3, UGT1A4 +8 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2827280	NM_000463.3(UGT1A1):c.1242T>A (p.Asn414Lys)	UGT1A, UGT1A1 +8 more (N146K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2734431	NM_000463.3(UGT1A1):c.118T>C (p.Trp40Arg)	UGT1A, UGT1A1 +8 more (W40R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2734430	NM_000463.3(UGT1A1):c.110G>T (p.Gly37Val)	UGT1A, UGT1A1 +8 more (G37V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2690418	NM_000463.3(UGT1A1):c.611T>C (p.Met204Thr)	UGT1A, UGT1A1 +8 more (M204T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2690417	NM_000463.3(UGT1A1):c.194C>T (p.Ser65Leu)	UGT1A, UGT1A1 +8 more (S65L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2690416	NM_000463.3(UGT1A1):c.89T>C (p.Ile30Thr)	UGT1A10, UGT1A +8 more (I30T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2683779	NM_000463.2(UGT1A1):c.-41_-40insGT	UGT1A, UGT1A1 +8 more	Insertion (intron variant)	not provided	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 2672867	NM_007120.3(UGT1A4):c.150G>C (p.Glu50Asp)	UGT1A, UGT1A10 +6 more (E50D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2652022	NM_019093.4(UGT1A3):c.804A>G (p.Pro268=)	UGT1A, UGT1A10 +7 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652021	NM_007120.3(UGT1A4):c.699T>C (p.Ser233=)	UGT1A, UGT1A10 +6 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652020	NM_007120.3(UGT1A4):c.42A>G (p.Thr14=)	UGT1A, UGT1A10 +6 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2636430	NM_000463.3(UGT1A1):c.254G>A (p.Arg85Lys)	UGT1A5, UGT1A +8 more (R85K)	Single nucleotide variant (missense variant +1 more)	UGT1A1-related disorder	GUncertain significance
Select item 2634837	NM_000463.3(UGT1A1):c.1450T>C (p.Tyr484His)	UGT1A, UGT1A1 +8 more (Y216H +4 more)	Single nucleotide variant (missense variant)	UGT1A1-related disorder	GUncertain significance
Select item 2634549	NM_000463.3(UGT1A1):c.1525T>G (p.Cys509Gly)	UGT1A, UGT1A1 +8 more (C506G +4 more)	Single nucleotide variant (missense variant)	UGT1A1-related disorder	GUncertain significance
Select item 2634101	NM_000463.2(UGT1A1):c.-85_-83dupCAT	UGT1A3, UGT1A +8 more	Duplication (intron variant)	UGT1A1-related disorder	GPathogenic
Select item 2632333	NM_000463.3(UGT1A1):c.1405A>C (p.Lys469Gln)	UGT1A, UGT1A1 +8 more (K201Q +4 more)	Single nucleotide variant (missense variant)	UGT1A1-related disorder	GUncertain significance
Select item 2629913	NM_000463.3(UGT1A1):c.506T>A (p.Val169Glu)	UGT1A, UGT1A1 +8 more (V169E)	Single nucleotide variant (missense variant +1 more)	UGT1A1-related disorder	GUncertain significance
Select item 2629503	NM_000463.3(UGT1A1):c.614C>T (p.Thr205Ile)	UGT1A, UGT1A1 +8 more (T205I)	Single nucleotide variant (missense variant +1 more)	UGT1A1-related disorder	GUncertain significance
Select item 2627409	NM_000463.3(UGT1A1):c.418del (p.Leu140fs)	UGT1A, UGT1A1 +8 more (L140fs)	Deletion (frameshift variant +1 more)	Crigler-Najjar syndrome, type II	GLikely pathogenic
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 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 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 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 2581463	NM_000463.3(UGT1A1):c.1458C>A (p.Tyr486Ter)	UGT1A, UGT1A1 +8 more (Y218* +4 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2577291	NM_000463.3(UGT1A1):c.1469A>C (p.Asp490Ala)	UGT1A, UGT1A1 +8 more (D222A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2573332	NC_000002.12:g.233760235TA[5_11]	UGT1A, UGT1A1 +8 more	Microsatellite	Levothyroxine response	Gother
Select item 2573331	NM_019093.4(UGT1A3):c.-66T>C	UGT1A6, UGT1A7 +7 more	Single nucleotide variant (5 prime UTR variant +1 more)	Levothyroxine response	Gother
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 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 2504646	NM_000463.3(UGT1A1):c.179T>C (p.Leu60Pro)	UGT1A, UGT1A1 +8 more (L60P)	Single nucleotide variant (missense variant +1 more)	Lucey-Driscoll syndrome	GUncertain significance
Select item 2502841	NM_000463.3(UGT1A1):c.1184G>T (p.Gly395Val)	UGT1A, UGT1A1 +8 more (G127V +4 more)	Single nucleotide variant (missense variant)	Crigler-Najjar syndrome	GPathogenic
Select item 2502840	NM_000463.3(UGT1A1):c.1156G>T (p.Val386Phe)	UGT1A, UGT1A1 +8 more (V118F +4 more)	Single nucleotide variant (missense variant)	Crigler-Najjar syndrome	GPathogenic
Select item 2502824	NM_000463.3(UGT1A1):c.110G>A (p.Gly37Asp)	UGT1A, UGT1A1 +8 more (G37D)	Single nucleotide variant (missense variant +1 more)	Crigler-Najjar syndrome, type II	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 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 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 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 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 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 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 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 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

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