Related gene-specific medical variations for Gene (Select 54658) - 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 3362357	NM_000463.3(UGT1A1):c.1243G>T (p.Val415Phe)	UGT1A1 (V147F +4 more)	Single nucleotide variant (missense variant)	Crigler-Najjar syndrome type 1	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 2438474	NM_000463.3(UGT1A1):c.286G>A (p.Gly96Arg)	UGT1A, UGT1A1 +8 more (G96R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438473	NM_000463.3(UGT1A1):c.706G>C (p.Glu236Gln)	UGT1A, UGT1A1 +8 more (E236Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438472	NM_000463.3(UGT1A1):c.164A>G (p.His55Arg)	UGT1A, UGT1A1 +8 more (H55R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438471	NM_000463.3(UGT1A1):c.354G>T (p.Lys118Asn)	UGT1A, UGT1A1 +8 more (K118N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438470	NM_000463.3(UGT1A1):c.387C>G (p.His129Gln)	UGT1A, UGT1A1 +8 more (H129Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438469	NM_000463.3(UGT1A1):c.355G>A (p.Asp119Asn)	UGT1A, UGT1A1 +8 more (D119N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438468	NM_000463.3(UGT1A1):c.396_401del (p.His132_Lys134delinsGln)	UGT1A, UGT1A1 +8 more	Deletion (inframe_indel +1 more)	not provided	GUncertain significance
Select item 2438467	NM_000463.3(UGT1A1):c.695C>A (p.Thr232Asn)	UGT1A, UGT1A1 +8 more (T232N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438466	NM_000463.3(UGT1A1):c.677T>C (p.Val226Ala)	UGT1A4, UGT1A +8 more (V226A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2434430	NM_000463.3(UGT1A1):c.300del (p.Phe100fs)	UGT1A, UGT1A1 +8 more (F100fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2428752	NM_000463.3(UGT1A1):c.510C>A (p.Phe170Leu)	UGT1A, UGT1A1 +8 more (F170L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2428647	NM_000463.3(UGT1A1):c.741A>G (p.Leu247=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2428552	NM_000463.3(UGT1A1):c.57G>A (p.Val19=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2428544	NM_000463.3(UGT1A1):c.107A>G (p.Asp36Gly)	UGT1A, UGT1A1 +8 more (D36G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2417532	NM_000463.3(UGT1A1):c.1002del (p.Trp335fs)	UGT1A, UGT1A1 +8 more (W332fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2417123	NM_000463.3(UGT1A1):c.1382G>A (p.Trp461Ter)	UGT1A, UGT1A1 +8 more (W193* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2415349	NM_000463.3(UGT1A1):c.757G>T (p.Val253Phe)	UGT1A, UGT1A1 +8 more (V253F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2412815	NM_000463.3(UGT1A1):c.1349G>T (p.Arg450Leu)	UGT1A10, UGT1A +8 more (R182L +4 more)	Single nucleotide variant (missense variant)	Crigler-Najjar syndrome, type II	GLikely pathogenic
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 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 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 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 2203288	NM_000463.3(UGT1A1):c.1388A>T (p.Glu463Val)	UGT1A, UGT1A1 +8 more (E195V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2203287	NM_000463.3(UGT1A1):c.615del (p.Phe206fs)	UGT1A5, UGT1A6 +8 more (F206fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2185932	NM_000463.3(UGT1A1):c.1084+4T>C	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2182511	NM_000463.3(UGT1A1):c.997G>A (p.Val333Ile)	UGT1A, UGT1A1 +8 more (V334I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172618	NM_000463.3(UGT1A1):c.1024C>T (p.Pro342Ser)	UGT1A3, UGT1A4 +8 more (P341S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2161778	NM_000463.3(UGT1A1):c.1389G>C (p.Glu463Asp)	UGT1A, UGT1A1 +8 more (E462D +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2159391	NM_000463.3(UGT1A1):c.1112C>T (p.Thr371Ile)	UGT1A, UGT1A1 +8 more (T103I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2149849	NM_000463.3(UGT1A1):c.1581C>A (p.Ala527=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2119343	NM_000463.3(UGT1A1):c.164dup (p.His55fs)	UGT1A, UGT1A1 +8 more (H55fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2080991	NM_000463.3(UGT1A1):c.1560A>G (p.Lys520=)	UGT1A1, UGT1A +8 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2080677	NM_000463.3(UGT1A1):c.111C>A (p.Gly37=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2041388	NM_000463.3(UGT1A1):c.244C>G (p.Pro82Ala)	UGT1A, UGT1A1 +8 more (P82A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2029994	NM_000463.3(UGT1A1):c.149T>G (p.Leu50Arg)	UGT1A, UGT1A1 +8 more (L50R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1965088	NM_000463.3(UGT1A1):c.1305-7T>A	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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