ClinVar for Gene (Select 54576) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066040	NM_000463.3(UGT1A1):c.1216_1225del (p.Thr406fs)	UGT1A, UGT1A1 +8 more (T138fs +4 more)	Deletion (frameshift variant)	Gilbert syndrome +3 more	GPathogenic
Select item 3057417	NM_001072.4(UGT1A6):c.862-10037A>G	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	UGT1A1-related condition	GLikely benign
Select item 3055972	NM_021027.3(UGT1A9):c.196C>T (p.Leu66=)	UGT1A, UGT1A10 +2 more	Single nucleotide variant (synonymous variant +1 more)	UGT1A9-related condition	GBenign
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 condition	GLikely benign
Select item 3054675	NM_000463.3(UGT1A1):c.864+10G>A	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	UGT1A1-related condition	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 condition	GLikely benign
Select item 3046264	NM_021027.3(UGT1A9):c.500T>C (p.Val167Ala)	UGT1A, UGT1A10 +2 more (V167A)	Single nucleotide variant (missense variant +1 more)	UGT1A9-related condition	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 condition	GLikely benign
Select item 3041957	NM_021027.3(UGT1A9):c.423T>G (p.Ser141=)	UGT1A, UGT1A10 +2 more	Single nucleotide variant (synonymous variant +1 more)	UGT1A9-related condition	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 condition	GUncertain significance
Select item 3038913	NM_021027.3(UGT1A9):c.432A>G (p.Ala144=)	UGT1A, UGT1A10 +2 more	Single nucleotide variant (synonymous variant +1 more)	UGT1A9-related condition	GLikely benign
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 condition	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 condition	GLikely benign
Select item 3032294	NM_021027.3(UGT1A9):c.417G>A (p.Glu139=)	UGT1A, UGT1A10 +2 more	Single nucleotide variant (synonymous variant +1 more)	UGT1A9-related condition	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 condition	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 condition	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 condition	GLikely benign
Select item 3029105	NM_001072.4(UGT1A6):c.862-8101C>T	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	UGT1A1-related condition	GLikely benign
Select item 3028950	NM_000463.3(UGT1A1):c.1038G>A (p.Ala346=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant)	UGT1A1-related condition	GLikely benign
Select item 3025340	NM_019093.4(UGT1A3):c.396A>G (p.Leu132=)	UGT1A, UGT1A3 +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)	UGT1A9, UGT1A5 +8 more (I439N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2921109	NM_019076.5(UGT1A8):c.1202T>C (p.Met401Thr)	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=)	UGT1A5, UGT1A6 +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 2920909	NM_019076.5(UGT1A8):c.855+64104T>C	UGT1A, UGT1A10 +3 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2920849	NM_019076.5(UGT1A8):c.855+64228A>G	UGT1A, UGT1A10 +3 more (M285V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2920843	NM_019076.5(UGT1A8):c.855+63716A>G	UGT1A, UGT1A10 +3 more (N114S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2920754	NM_019076.5(UGT1A8):c.856-73523C>T	UGT1A, UGT1A10 +4 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2909068	NM_000463.3(UGT1A1):c.1590C>T (p.Ser530=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2898004	NM_000463.3(UGT1A1):c.1229G>A (p.Gly410Glu)	UGT1A, UGT1A1 +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=)	UGT1A10, UGT1A +8 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884494	NM_000463.3(UGT1A1):c.687G>A (p.Pro229=)	UGT1A, UGT1A1 +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 (intron 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 (intron variant +1 more)	not provided	GUncertain significance
Select item 2690429	NM_019077.3(UGT1A7):c.243C>A (p.Tyr81Ter)	UGT1A, UGT1A10 +3 more (Y81*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2690428	NM_019077.3(UGT1A7):c.817_821dup (p.Ile275fs)	UGT1A, UGT1A10 +3 more (I275fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2690427	NM_019077.3(UGT1A7):c.192G>A (p.Trp64Ter)	UGT1A, UGT1A10 +3 more (W64*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2690426	NM_019077.3(UGT1A7):c.503del (p.Phe168fs)	UGT1A, UGT1A10 +3 more (F168fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2690425	NM_019077.3(UGT1A7):c.760C>T (p.Arg254Ter)	UGT1A, UGT1A10 +3 more (R254*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2690424	NM_001072.4(UGT1A6):c.29G>A (p.Arg10Lys)	UGT1A, UGT1A10 +4 more (R10K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2690423	NM_001072.4(UGT1A6):c.61T>C (p.Trp21Arg)	UGT1A, UGT1A10 +4 more (W21R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2690422	NM_001072.4(UGT1A6):c.16C>T (p.Arg6Cys)	UGT1A, UGT1A10 +4 more (R6C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2690421	NM_001072.4(UGT1A6):c.263A>G (p.Lys88Arg)	UGT1A, UGT1A10 +4 more (K88R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2690420	NM_001072.4(UGT1A6):c.622C>T (p.Arg208Ter)	UGT1A, UGT1A10 +4 more (R208*)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2690419	NM_001072.4(UGT1A6):c.269G>A (p.Arg90His)	UGT1A, UGT1A10 +4 more (R90H)	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 (intron variant +1 more)	not provided	GUncertain significance
Select item 2690416	NM_000463.3(UGT1A1):c.89T>C (p.Ile30Thr)	UGT1A, UGT1A1 +8 more (I30T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2685879	GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	ACKR3, AGAP1 +79 more	Copy number gain	not provided	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2683779	NM_001072.4(UGT1A6):c.862-6787_862-6786insGT	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	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 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
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, UGT1A9 +6 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652019	NM_021027.3(UGT1A9):c.98T>C (p.Met33Thr)	UGT1A9, UGT1A +2 more (M33T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2636430	NM_000463.3(UGT1A1):c.254G>A (p.Arg85Lys)	UGT1A, UGT1A1 +8 more (R85K)	Single nucleotide variant (missense variant +1 more)	UGT1A1-related condition	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 condition	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 condition	GUncertain significance
Select item 2634101	NM_001072.4(UGT1A6):c.862-6831_862-6829dup	UGT1A, UGT1A1 +8 more	Duplication (intron variant)	UGT1A1-related condition	GPathogenic
Select item 2632333	NM_000463.3(UGT1A1):c.1405A>C (p.Lys469Gln)	UGT1A3, UGT1A +8 more (K201Q +4 more)	Single nucleotide variant (missense variant)	UGT1A1-related condition	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 condition	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 condition	GUncertain significance
Select item 2627409	NM_000463.3(UGT1A1):c.418del (p.Leu140fs)	UGT1A10, UGT1A +8 more (L140fs)	Deletion (frameshift variant +1 more)	Crigler-Najjar syndrome, type II	GLikely pathogenic
Select item 2615931	NM_019078.2(UGT1A5):c.23C>T (p.Pro8Leu)	UGT1A, UGT1A10 +5 more (P8L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2613576	NM_019076.5(UGT1A8):c.262C>T (p.Arg88Trp)	UGT1A, UGT1A8 (R88W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609730	NM_019093.4(UGT1A3):c.275A>G (p.His92Arg)	UGT1A3, UGT1A5 +7 more (H92R)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608714	NM_000463.3(UGT1A1):c.395A>G (p.His132Arg)	UGT1A1, UGT1A +8 more (H132R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608310	NM_001072.4(UGT1A6):c.831C>G (p.Ile277Met)	UGT1A, UGT1A10 +4 more (I277M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2604126	NM_021027.3(UGT1A9):c.512G>T (p.Gly171Val)	UGT1A, UGT1A10 +2 more (G171V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2598606	NM_019093.4(UGT1A3):c.29C>T (p.Pro10Leu)	UGT1A4, UGT1A5 +7 more (P10L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593604	NM_019076.5(UGT1A8):c.338C>T (p.Ser113Phe)	UGT1A, UGT1A8 (S113F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593034	NM_019077.3(UGT1A7):c.782A>G (p.Tyr261Cys)	UGT1A, UGT1A10 +3 more (Y261C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591293	NM_021027.3(UGT1A9):c.224A>G (p.Lys75Arg)	UGT1A8, UGT1A9 +2 more (K75R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2590176	NM_019076.5(UGT1A8):c.341A>G (p.Asn114Ser)	UGT1A, UGT1A8 (N114S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2581463	NM_000463.3(UGT1A1):c.1458C>A (p.Tyr486Ter)	UGT1A1, UGT1A +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	UGT1A, UGT1A10 +7 more	Single nucleotide variant (5 prime UTR variant +1 more)	Levothyroxine response	Gother
Select item 2559086	NM_019076.5(UGT1A8):c.263G>A (p.Arg88Gln)	UGT1A, UGT1A8 (R88Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556431	NM_021027.3(UGT1A9):c.217A>G (p.Thr73Ala)	UGT1A, UGT1A10 +2 more (T73A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2551367	NM_019093.4(UGT1A3):c.131T>A (p.Met44Lys)	UGT1A8, UGT1A9 +7 more (M44K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2538648	NM_019076.5(UGT1A8):c.338C>A (p.Ser113Tyr)	UGT1A, UGT1A8 (S113Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538376	NM_001072.4(UGT1A6):c.754G>T (p.Val252Phe)	UGT1A, UGT1A10 +4 more (V252F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537207	NM_021027.3(UGT1A9):c.616A>G (p.Arg206Gly)	UGT1A, UGT1A10 +2 more (R206G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535303	NM_019077.3(UGT1A7):c.827A>G (p.Asn276Ser)	UGT1A, UGT1A10 +3 more (N276S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535022	NM_001072.4(UGT1A6):c.229A>G (p.Ile77Val)	UGT1A, UGT1A10 +4 more (I77V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2526400	NM_019075.4(UGT1A10):c.77G>A (p.Gly26Glu)	UGT1A, UGT1A10 +1 more (G26E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522678	NM_019075.4(UGT1A10):c.62G>C (p.Gly21Ala)	UGT1A10, UGT1A8 +1 more (G21A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520043	NM_021027.3(UGT1A9):c.769T>G (p.Phe257Val)	UGT1A, UGT1A10 +2 more (F257V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519846	NM_001072.4(UGT1A6):c.268C>T (p.Arg90Cys)	UGT1A, UGT1A10 +4 more (R90C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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