UGT1A8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC126806461, LOC126806467 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	OR6B3, OTOS +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	AAMP, ABCB6 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	LOC122861320, LOC122889004 +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	ALPG, ALPI +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088830, LOC132088831 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	UGT1A6, UGT1A7 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	LOC129935990, LOC129935991 +361 more	Copy number loss	See cases	GPathogenic
Select item 57177	GRCh38/hg38 2q37.1(chr2:233420162-233761780)x3	DGKD, DNAJB3 +16 more	Copy number gain	See cases	GUncertain significance
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	ACKR3, AGAP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 2392476	NM_019076.5(UGT1A8):c.101A>T (p.Asp34Val)	UGT1A8, UGT1A (D34V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471252	NM_019076.5(UGT1A8):c.142C>T (p.Leu48Phe)	UGT1A, UGT1A8 (L48F)	Single nucleotide variant (missense variant)	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 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 2461200	NM_019076.5(UGT1A8):c.304G>A (p.Val102Ile)	UGT1A, UGT1A8 (V102I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 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 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 2376116	NM_019076.5(UGT1A8):c.451G>A (p.Asp151Asn)	UGT1A8, UGT1A (D151N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410881	NM_019076.5(UGT1A8):c.470T>A (p.Val157Asp)	UGT1A, UGT1A8 (V157D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254626	NM_019076.5(UGT1A8):c.491C>T (p.Pro164Leu)	UGT1A, UGT1A8 (P164L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487554	NM_019076.5(UGT1A8):c.526T>C (p.Tyr176His)	UGT1A, UGT1A8 (Y176H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377922	NM_019076.5(UGT1A8):c.721G>A (p.Ala241Thr)	UGT1A8, UGT1A (A241T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 773665	NM_019076.5(UGT1A8):c.765A>G (p.Thr255=)	UGT1A, UGT1A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2366279	NM_019076.5(UGT1A8):c.821G>C (p.Gly274Ala)	UGT1A, UGT1A8 (G274A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205121	NM_019075.4(UGT1A10):c.28G>A (p.Val10Ile)	UGT1A10, UGT1A8 +1 more (V10I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257028	NM_019075.4(UGT1A10):c.31C>G (p.Pro11Ala)	UGT1A, UGT1A8 +1 more (P11A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2248099	NM_019075.4(UGT1A10):c.53T>C (p.Leu18Pro)	UGT1A8, UGT1A +1 more (L18P)	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 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 2486578	NM_019075.4(UGT1A10):c.370T>C (p.Cys124Arg)	UGT1A, UGT1A10 +1 more (C124R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282869	NM_019075.4(UGT1A10):c.586G>C (p.Gly196Arg)	UGT1A, UGT1A10 +1 more (G196R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 775833	NM_019075.4(UGT1A10):c.597T>C (p.Asp199=)	UGT1A, UGT1A10 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2262154	NM_019075.4(UGT1A10):c.634G>C (p.Val212Leu)	UGT1A10, UGT1A8 +1 more (V212L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307228	NM_019075.4(UGT1A10):c.649C>A (p.His217Asn)	UGT1A10, UGT1A +1 more (H217N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2290627	NM_019075.4(UGT1A10):c.691G>A (p.Ala231Thr)	UGT1A10, UGT1A +1 more (A231T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259850	NM_019075.4(UGT1A10):c.782A>G (p.Tyr261Cys)	UGT1A, UGT1A10 +1 more (Y261C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1263192	NM_019076.5(UGT1A8):c.855+51220C>T	UGT1A, UGT1A10 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2246962	NM_021027.3(UGT1A9):c.70G>A (p.Glu24Lys)	UGT1A10, UGT1A +2 more (E24K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 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 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 790441	NM_021027.3(UGT1A9):c.225G>A (p.Lys75=)	UGT1A, UGT1A10 +2 more	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2457562	NM_021027.3(UGT1A9):c.377G>A (p.Ser126Asn)	UGT1A8, UGT1A9 +2 more (S126N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241585	NM_021027.3(UGT1A9):c.397T>A (p.Leu133Ile)	UGT1A10, UGT1A +2 more (L133I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 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 2327957	NM_021027.3(UGT1A9):c.463T>G (p.Leu155Val)	UGT1A10, UGT1A8 +2 more (L155V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 2455120	NM_021027.3(UGT1A9):c.524A>G (p.His175Arg)	UGT1A8, UGT1A9 +2 more (H175R)	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 2269188	NM_021027.3(UGT1A9):c.662A>G (p.His221Arg)	UGT1A9, UGT1A8 +2 more (H221R)	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 1289436	NM_019076.5(UGT1A8):c.855+63270T>G	UGT1A, UGT1A10 +2 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 440384	NM_019076.5(UGT1A8):c.855+63319T>G	UGT1A10, UGT1A8 +2 more	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 440385	NM_019076.5(UGT1A8):c.855+63408C>A	UGT1A9, UGT1A +3 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2288007	NM_019077.3(UGT1A7):c.68C>A (p.Ala23Asp)	UGT1A8, UGT1A10 +3 more (A23D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 811843	NM_019075.4(UGT1A10):c.855+44683G>A	UGT1A8, UGT1A7 +3 more (M41I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348238	NM_019077.3(UGT1A7):c.172G>T (p.Val58Phe)	UGT1A8, UGT1A7 +3 more (V58F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 993651	NM_019075.4(UGT1A10):c.855+44822C>T	UGT1A10, UGT1A7 +3 more (R88W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 811972	NM_019075.4(UGT1A10):c.855+44828T>C	UGT1A8, UGT1A10 +3 more (F90L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252023	NM_019077.3(UGT1A7):c.283G>A (p.Asp95Asn)	UGT1A10, UGT1A7 +3 more (D95N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
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 1679510	NM_019076.5(UGT1A8):c.855+63718G>A	UGT1A, UGT1A10 +3 more (G115S)	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 618470	NM_019077.3(UGT1A7):c.352G>T (p.Asp118Tyr)	UGT1A, UGT1A10 +3 more (D118Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2241508	NM_019077.3(UGT1A7):c.364T>C (p.Ser122Pro)	UGT1A10, UGT1A7 +3 more (S122P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1330751	NM_019076.5(UGT1A8):c.855+63761_855+63762delinsGG	UGT1A8, UGT1A9 +3 more (N129R)	Indel (missense variant +1 more)	not provided	GLikely benign
Select item 1330729	NM_019076.5(UGT1A8):c.855+63761A>G	UGT1A, UGT1A10 +3 more (N129S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 440386	NM_019076.5(UGT1A8):c.855+63762T>G	UGT1A7, UGT1A8 +3 more (N129K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1333166	NM_019076.5(UGT1A8):c.855+63766_855+63767delinsAA	UGT1A, UGT1A10 +3 more (R131K)	Indel (missense variant +1 more)	not provided	GBenign
Select item 440387	NM_019076.5(UGT1A8):c.855+63766C>A	UGT1A8, UGT1A +3 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 440388	NM_019076.5(UGT1A8):c.855+63767G>A	UGT1A9, UGT1A10 +3 more (R131Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1330505	NM_019076.5(UGT1A8):c.855+63792G>C	UGT1A10, UGT1A7 +3 more (E139D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1330921	NM_019075.4(UGT1A10):c.855+44982G>C	UGT1A, UGT1A10 +3 more (C141S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2466343	NM_019077.3(UGT1A7):c.467T>C (p.Ile156Thr)	UGT1A, UGT1A10 +3 more (I156T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458203	NM_019077.3(UGT1A7):c.476A>G (p.Lys159Arg)	UGT1A, UGT1A10 +3 more (K159R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 618471	NM_019077.3(UGT1A7):c.565T>C (p.Tyr189His)	UGT1A7, UGT1A +3 more (Y189H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2357994	NM_019077.3(UGT1A7):c.602T>A (p.Met201Lys)	UGT1A, UGT1A9 +3 more (M201K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 440389	NM_019076.5(UGT1A8):c.855+63997T>C	UGT1A, UGT1A10 +3 more (W208R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2276662	NM_019077.3(UGT1A7):c.636G>T (p.Met212Ile)	UGT1A10, UGT1A7 +3 more (M212I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2428597	NM_019075.4(UGT1A10):c.855+45220C>T	UGT1A, UGT1A10 +3 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1330672	NM_019075.4(UGT1A10):c.855+45231T>C	UGT1A10, UGT1A8 +3 more (F224S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2215584	NM_019077.3(UGT1A7):c.676A>G (p.Asn226Asp)	UGT1A9, UGT1A7 +3 more (N226D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 440390	NM_019076.5(UGT1A8):c.855+64131G>A	UGT1A, UGT1A8 +3 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 2354908	NM_019077.3(UGT1A7):c.802A>C (p.Asn268His)	UGT1A, UGT1A10 +3 more (N268H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

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