UGT1A4[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 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 2467004	NM_007120.3(UGT1A4):c.32G>A (p.Arg11Gln)	UGT1A, UGT1A10 +6 more (R11Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2366407	NM_007120.3(UGT1A4):c.53T>A (p.Leu18His)	UGT1A10, UGT1A4 +6 more (L18H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406536	NM_007120.3(UGT1A4):c.140C>T (p.Ala47Val)	UGT1A8, UGT1A10 +6 more (A47V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
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 2297777	NM_007120.3(UGT1A4):c.158C>G (p.Ala53Gly)	UGT1A7, UGT1A10 +6 more (A53G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465817	NM_007120.3(UGT1A4):c.257A>G (p.Gln86Arg)	UGT1A, UGT1A10 +6 more (Q86R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459401	NM_007120.3(UGT1A4):c.274G>A (p.Val92Ile)	UGT1A, UGT1A10 +6 more (V92I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483405	NM_007120.3(UGT1A4):c.295G>C (p.Gly99Arg)	UGT1A5, UGT1A6 +6 more (G99R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467792	NM_007120.3(UGT1A4):c.334A>G (p.Arg112Gly)	UGT1A5, UGT1A6 +6 more (R112G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2366207	NM_007120.3(UGT1A4):c.476C>T (p.Ala159Val)	UGT1A6, UGT1A7 +6 more (A159V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309708	NM_007120.3(UGT1A4):c.685G>T (p.Ala229Ser)	UGT1A6, UGT1A +6 more (A229S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2464085	NM_007120.3(UGT1A4):c.745G>C (p.Val249Leu)	UGT1A, UGT1A10 +6 more (V249L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2464086	NM_007120.3(UGT1A4):c.751T>C (p.Tyr251His)	UGT1A, UGT1A10 +6 more (Y251H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
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 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 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 2486671	NM_019093.4(UGT1A3):c.235A>T (p.Thr79Ser)	UGT1A, UGT1A10 +7 more (T79S)	Single nucleotide variant (missense variant +1 more)	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 2265164	NM_019093.4(UGT1A3):c.275A>T (p.His92Leu)	UGT1A5, UGT1A8 +7 more (H92L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2334391	NM_019093.4(UGT1A3):c.298T>C (p.Tyr100His)	UGT1A, UGT1A7 +7 more (Y100H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359003	NM_019093.4(UGT1A3):c.346A>G (p.Met116Val)	UGT1A10, UGT1A7 +7 more (M116V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260208	NM_019093.4(UGT1A3):c.380C>G (p.Ser127Cys)	UGT1A9, UGT1A10 +7 more (S127C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2368346	NM_019093.4(UGT1A3):c.472G>A (p.Ala158Thr)	UGT1A5, UGT1A8 +7 more (A158T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 789161	NM_019093.4(UGT1A3):c.473C>T (p.Ala158Val)	UGT1A, UGT1A10 +7 more (A158V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2405281	NM_019093.4(UGT1A3):c.667A>G (p.Ile223Val)	UGT1A6, UGT1A5 +7 more (I223V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 993713	NM_001072.4(UGT1A6):c.861+35946G>C	UGT1A, UGT1A10 +7 more (A229P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 2368239	NM_019093.4(UGT1A3):c.850A>G (p.Arg284Gly)	UGT1A9, UGT1A7 +7 more (R284G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250454	NM_001072.4(UGT1A6):c.862-23551T>C	UGT1A5, DNAJB3 +8 more	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250866	NM_001072.4(UGT1A6):c.862-23503A>T	UGT1A7, UGT1A5 +8 more	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 729124	NM_001072.4(UGT1A6):c.862-23412C>T	DNAJB3, UGT1A +8 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2238547	NM_001072.4(UGT1A6):c.862-23200A>G	UGT1A6, UGT1A10 +8 more	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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 12288	NM_001072.4(UGT1A6):c.862-10021T>G	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	UGT1A9-related condition +5 more	GConflicting classifications of pathogenicity
Select item 810732	NM_001072.4(UGT1A6):c.862-9898G>A	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	irinotecan response - Toxicity	Gdrug response
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 12282	NM_001072.4(UGT1A6):c.862-8098=	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	Lucey-Driscoll syndrome	GPathogenic
Select item 1265916	NM_019076.5(UGT1A8):c.856-6852T>C	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	UGT1A1-related condition +1 more	GBenign
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 1923012	NM_001072.4(UGT1A6):c.862-6800AT[10]	UGT1A, UGT1A1 +8 more	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 549829	UGT1A1*37	UGT1A10, UGT1A3 +8 more	Microsatellite (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity; drug response
Select item 12275	UGT1A1*28	UGT1A, UGT1A1 +8 more	Microsatellite (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity; drug response; other
Select item 549830	UGT1A1*36	UGT1A, UGT1A1 +8 more	Microsatellite (intron variant)	Irinotecan response +2 more	GBenign; drug response
Select item 2573332	NC_000002.12:g.233760235TA[5_11]	UGT1A, UGT1A1 +8 more	Microsatellite	Levothyroxine response	Gother
Select item 594666	NM_001072.4(UGT1A6):c.862-6799_862-6798insTA	UGT1A3, UGT1A4 +8 more	Insertion (intron variant)	UGT1A1-Related Disorders +1 more	GPathogenic; other
Select item 549828	UGT1A1*1	UGT1A6, UGT1A7 +8 more	Microsatellite (intron variant)	Irinotecan response	Gdrug response
Select item 1425048	NM_001072.4(UGT1A6):c.862-6796A>G	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1895626	NM_001072.4(UGT1A6):c.862-6792A>G	UGT1A4, UGT1A1 +8 more	Single nucleotide variant (intron variant)	UGT1A1-related condition +1 more	GBenign/Likely benign
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 597216	NM_000463.3(UGT1A1):c.-4C>T	UGT1A, UGT1A1 +8 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1679369	NM_000463.3(UGT1A1):c.2_17del (p.Met1fs)	UGT1A, UGT1A1 +8 more (M1fs)	Deletion (frameshift variant +2 more)	Gilbert syndrome	GLikely pathogenic
Select item 500778	NM_000463.3(UGT1A1):c.19G>A (p.Gly7Ser)	UGT1A6, UGT1A7 +8 more (G7S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 597581	NM_000463.3(UGT1A1):c.22G>A (p.Gly8Arg)	UGT1A, UGT1A1 +8 more (G8R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 895439	NM_000463.3(UGT1A1):c.25C>T (p.Arg9Cys)	UGT1A, UGT1A1 +8 more (R9C)	Single nucleotide variant (missense variant +1 more)	Crigler-Najjar syndrome +2 more	GUncertain significance
Select item 1646107	NM_000463.3(UGT1A1):c.36C>T (p.Val12=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 12287	NM_000463.3(UGT1A1):c.44T>G (p.Leu15Arg)	UGT1A3, UGT1A9 +8 more (L15R)	Single nucleotide variant (missense variant +1 more)	Crigler-Najjar syndrome, type II +4 more	GLikely pathogenic
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 2428552	NM_000463.3(UGT1A1):c.57G>A (p.Val19=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1458334	NM_000463.3(UGT1A1):c.72dup (p.Ser25fs)	UGT1A, UGT1A1 +8 more (S25fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 437206	NM_000463.3(UGT1A1):c.72G>A (p.Val24=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	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 1325329	NM_000463.3(UGT1A1):c.80_93del (p.Ala27fs)	UGT1A, UGT1A1 +8 more (A27fs)	Deletion (intron variant +1 more)	not provided	GPathogenic/Likely pathogenic
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 2428544	NM_000463.3(UGT1A1):c.107A>G (p.Asp36Gly)	UGT1A1, UGT1A3 +8 more (D36G)	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 (intron variant +1 more)	not provided	GUncertain significance
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 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 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 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 1330862	NM_000463.3(UGT1A1):c.131T>A (p.Leu44His)	UGT1A8, UGT1A9 +8 more (L44H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 291189	NM_000463.3(UGT1A1):c.137C>T (p.Ala46Val)	UGT1A, UGT1A1 +8 more (A46V)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 289738	NM_000463.3(UGT1A1):c.138C>T (p.Ala46=)	UGT1A1, UGT1A +8 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 160234	NM_000463.3(UGT1A1):c.141C>T (p.Ile47=)	UGT1A, UGT1A4 +8 more	Single nucleotide variant (synonymous variant +1 more)	UGT1A1-related condition +6 more	GConflicting classifications of pathogenicity
Select item 160233	NM_000463.3(UGT1A1):c.141C>A (p.Ile47=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	Hyperbilirubinemia	GUncertain significance
Select item 597578	NM_000463.3(UGT1A1):c.142C>G (p.Gln48Glu)	UGT1A10, UGT1A3 +8 more (Q48E)	Single nucleotide variant (missense variant +1 more)	Lucey-Driscoll syndrome +3 more	GUncertain significance
Select item 12278	NM_000463.3(UGT1A1):c.145C>T (p.Gln49Ter)	UGT1A1, UGT1A3 +8 more (Q49*)	Single nucleotide variant (nonsense +1 more)	Crigler-Najjar syndrome type 1	GPathogenic
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

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