UGT1A9[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 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
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 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 618469	NM_019076.5(UGT1A8):c.855+64203C>A	UGT1A7, UGT1A8 +3 more (N276K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1679448	NM_019075.4(UGT1A10):c.855+45414T>C	UGT1A, UGT1A10 +3 more (M285T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1679437	NM_019075.4(UGT1A10):c.855+45435G>A	UGT1A8, UGT1A +3 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2428588	NM_001072.4(UGT1A6):c.18_19delinsTG (p.Ser7Ala)	UGT1A7, UGT1A6 +4 more (S7A)	Indel (missense variant +1 more)	not provided	GLikely benign
Select item 440378	NM_019076.5(UGT1A8):c.856-74011T>G	UGT1A9, UGT1A8 +4 more (S7A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 810915	NM_001072.4(UGT1A6):c.105C>T (p.Asp35=)	UGT1A7, UGT1A8 +4 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2464005	NM_001072.4(UGT1A6):c.124A>G (p.Met42Val)	UGT1A, UGT1A10 +4 more (M42V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 811907	NM_001072.4(UGT1A6):c.146T>G (p.Leu49Arg)	UGT1A9, UGT1A8 +4 more (L49R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2405375	NM_001072.4(UGT1A6):c.154C>T (p.Arg52Trp)	UGT1A6, UGT1A10 +4 more (R52W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1330907	NM_001072.4(UGT1A6):c.159del (p.His54fs)	UGT1A9, UGT1A +4 more (H54fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2480793	NM_001072.4(UGT1A6):c.206A>G (p.Glu69Gly)	UGT1A, UGT1A10 +4 more (E69G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 994070	NM_001072.4(UGT1A6):c.214T>C (p.Tyr72His)	UGT1A, UGT1A10 +4 more (Y72H)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 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
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 2369994	NM_001072.4(UGT1A6):c.293A>G (p.His98Arg)	UGT1A10, UGT1A6 +4 more (H98R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 440379	NM_019076.5(UGT1A8):c.856-73715A>G	UGT1A, UGT1A9 +4 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 618468	NM_001072.4(UGT1A6):c.348G>C (p.Met116Ile)	UGT1A, UGT1A9 +4 more (M116I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2404566	NM_001072.4(UGT1A6):c.371T>A (p.Ile124Asn)	UGT1A, UGT1A9 +4 more (I124N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206502	NM_001072.4(UGT1A6):c.433G>C (p.Asp145His)	UGT1A10, UGT1A6 +4 more (D145H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2254557	NM_001072.4(UGT1A6):c.454G>A (p.Ala152Thr)	UGT1A10, UGT1A9 +4 more (A152T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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