54658[geneid] - 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	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +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	CCL20, CHRND +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	LOC126806558, LOC126806559 +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935965, LOC129935966 +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	ACKR3, AGAP1 +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	RAB17-DT, RAMP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 3057417	NC_000002.12:g.233756997A>G	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	UGT1A1-related disorder	GLikely benign
Select item 12288	NM_001072.4(UGT1A6):c.862-10021T>G	UGT1A4, UGT1A +8 more	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 810732	NC_000002.12:g.233757136G>A	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	irinotecan response - Toxicity	Gdrug response
Select item 3029105	NC_000002.12:g.233758933C>T	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	UGT1A1-related disorder	GLikely benign
Select item 12282	NC_000002.12:g.233758936=	UGT1A, UGT1A5 +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)	not provided	GBenign
Select item 2634101	NM_000463.2(UGT1A1):c.-85_-83dupCAT	UGT1A, UGT1A1 +8 more	Duplication (intron variant)	UGT1A1-related disorder	GPathogenic
Select item 1923012	NC_000002.12:g.233760235TA[10]	UGT1A, UGT1A1 +8 more	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 549829	UGT1A1*37	UGT1A, UGT1A1 +8 more	Microsatellite (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity; drug response
Select item 12275	UGT1A1*28	UGT1A1, UGT1A7 +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)	not provided +1 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_000463.2(UGT1A1):c.-53_-52insTA	UGT1A, UGT1A1 +8 more	Insertion (intron variant)	UGT1A1-related disorder +1 more	GPathogenic; other
Select item 549828	UGT1A1*1	UGT1A, UGT1A1 +8 more	Microsatellite (intron variant)	Irinotecan response	Gdrug response
Select item 1425048	NC_000002.12:g.233760238A>G	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1895626	NC_000002.12:g.233760242A>G	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2683779	NM_000463.2(UGT1A1):c.-41_-40insGT	UGT1A, UGT1A1 +8 more	Insertion (intron variant)	not provided	GUncertain significance
Select item 597216	NM_000463.3(UGT1A1):c.-4C>T	UGT1A1, UGT1A10 +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)	UGT1A3, UGT1A4 +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 disorder	GLikely benign
Select item 597581	NM_000463.3(UGT1A1):c.22G>A (p.Gly8Arg)	UGT1A, UGT1A5 +8 more (G8R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 895439	NM_000463.3(UGT1A1):c.25C>T (p.Arg9Cys)	UGT1A, UGT1A1 +8 more (R9C)	Single nucleotide variant (missense variant +1 more)	Lucey-Driscoll syndrome +2 more	GUncertain significance
Select item 1646107	NM_000463.3(UGT1A1):c.36C>T (p.Val12=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 12287	NM_000463.3(UGT1A1):c.44T>G (p.Leu15Arg)	UGT1A, UGT1A1 +8 more (L15R)	Single nucleotide variant (missense variant +1 more)	Gilbert syndrome +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 disorder	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 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=)	UGT1A4, UGT1A5 +8 more	Single nucleotide variant (synonymous variant +1 more)	Lucey-Driscoll syndrome +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 disorder	GLikely benign
Select item 1325329	NM_000463.3(UGT1A1):c.80_93del (p.Ala27fs)	UGT1A, UGT1A1 +8 more (A27fs)	Deletion (frameshift 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	GUncertain significance
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 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 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 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 (missense 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 disorder	GUncertain significance
Select item 1330862	NM_000463.3(UGT1A1):c.131T>A (p.Leu44His)	UGT1A, UGT1A1 +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)	Lucey-Driscoll syndrome +5 more	GUncertain significance
Select item 289738	NM_000463.3(UGT1A1):c.138C>T (p.Ala46=)	UGT1A, UGT1A1 +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=)	UGT1A5, UGT1A6 +8 more	Single nucleotide variant (synonymous variant +1 more)	not specified +5 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)	UGT1A, UGT1A1 +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)	UGT1A3, UGT1A4 +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
Select item 598040	NM_000463.3(UGT1A1):c.159G>A (p.Arg53=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
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 2119343	NM_000463.3(UGT1A1):c.164dup (p.His55fs)	UGT1A, UGT1A1 +8 more (H55fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
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 596451	NM_000463.3(UGT1A1):c.167A>C (p.Glu56Ala)	UGT1A6, UGT1A5 +8 more (E56A)	Single nucleotide variant (missense variant +1 more)	Gilbert syndrome +3 more	GUncertain significance
Select item 1175994	NM_000463.3(UGT1A1):c.175G>T (p.Val59Phe)	UGT1A, UGT1A1 +8 more (V59F)	Single nucleotide variant (missense variant +1 more)	not provided	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 1394579	NM_000463.3(UGT1A1):c.182C>G (p.Ala61Gly)	UGT1A, UGT1A1 +8 more (A61G)	Single nucleotide variant (missense variant +1 more)	not provided	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 500144	NM_000463.3(UGT1A1):c.189C>T (p.Asp63=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	Gilbert syndrome +3 more	GConflicting classifications of pathogenicity
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 598689	NM_000463.3(UGT1A1):c.195G>A (p.Ser65=)	UGT1A9, UGT1A +8 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
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 1676205	NM_000463.3(UGT1A1):c.200A>T (p.Tyr67Phe)	UGT1A4, UGT1A5 +8 more (Y67F)	Single nucleotide variant (missense variant +1 more)	Gilbert syndrome	GUncertain significance
Select item 498761	NM_000463.3(UGT1A1):c.210C>G (p.Asp70Glu)	UGT1A, UGT1A1 +8 more (D70E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 12280	UGT1A1*6	UGT1A4, UGT1A5 +8 more (G71R)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity; drug response
Select item 437210	NM_000463.3(UGT1A1):c.222C>A (p.Tyr74Ter)	UGT1A, UGT1A1 +8 more (Y74*)	Single nucleotide variant (nonsense +1 more)	Crigler-Najjar syndrome +1 more	GPathogenic
Select item 212544	NM_000463.3(UGT1A1):c.238_239insGTAC (p.Pro80fs)	UGT1A10, UGT1A3 +8 more (P80fs)	Insertion (frameshift variant +1 more)	Hyperbilirubinemia +1 more	GPathogenic
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 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 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 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 1338452	NM_000463.3(UGT1A1):c.269_270del (p.Glu90fs)	UGT1A, UGT1A1 +8 more (E90fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 733847	NM_000463.3(UGT1A1):c.282T>C (p.Ser94=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1373537	NM_000463.3(UGT1A1):c.287G>A (p.Gly96Glu)	UGT1A, UGT1A1 +8 more (G96E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 897334	NM_000463.3(UGT1A1):c.288G>A (p.Gly96=)	UGT1A8, UGT1A5 +8 more	Single nucleotide variant (synonymous variant +1 more)	Lucey-Driscoll syndrome +2 more	GUncertain significance
Select item 335079	NM_000463.3(UGT1A1):c.294T>C (p.Asn98=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 335080	NM_000463.3(UGT1A1):c.300T>C (p.Phe100=)	UGT1A6, UGT1A7 +8 more	Single nucleotide variant (synonymous variant +1 more)	Crigler-Najjar syndrome +3 more	GUncertain significance
Select item 160236	NM_000463.3(UGT1A1):c.322C>T (p.Arg108Cys)	UGT1A, UGT1A1 +8 more (R108C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 289882	NM_000463.3(UGT1A1):c.326T>C (p.Val109Ala)	UGT1A, UGT1A1 +8 more (V109A)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 266037	NM_000463.3(UGT1A1):c.353dup (p.Asp119fs)	UGT1A, UGT1A1 +8 more (D119fs)	Duplication (frameshift variant +1 more)	Gilbert syndrome +3 more	GPathogenic/Likely pathogenic
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 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 1339104	NM_000463.3(UGT1A1):c.358T>C (p.Ser120Pro)	UGT1A, UGT1A1 +8 more (S120P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 895502	NM_000463.3(UGT1A1):c.361G>C (p.Ala121Pro)	UGT1A, UGT1A1 +8 more (A121P)	Single nucleotide variant (missense variant +1 more)	Lucey-Driscoll syndrome +2 more	GUncertain significance

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