UGT1A (UDP glucuronosyltransferase family 1 member A complex locus)

Gene: UGT1A (UDP glucuronosyltransferase family 1 member A complex locus) Homo sapiens

Analyze

Symbol:

UGT1A

Name:

UDP glucuronosyltransferase family 1 member A complex locus

RGD ID:

70821

HGNC Page

HGNC:12529

Description:

This RefSeq represents a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. [provided by RefSeq, Jul 2008]

Type:

gene

RefSeq Status:

REVIEWED

Previously known as:

GNT1; UDP glycosyltransferase 1 family, polypeptide A1; UGT; UGT1; UGT1A@

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	2	233,585,439 - 233,773,299 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	2	234,494,085 - 234,681,945 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Cytogenetic Map	2	q37.1	NCBI
HuRef	2	226,294,071 - 226,481,779 (+)	NCBI		HuRef
CHM1_1	2	234,499,900 - 234,683,097 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	2	234,074,082 - 234,261,928 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

bilirubin metabolic disorder (IAGP)

Crigler Najjar Syndrome, Type 2 (IAGP)

Crigler-Najjar syndrome (IAGP)

genetic disease (IAGP)

Gilbert syndrome (EXP,IAGP)

Hyperbilirubinemia, Transient Familial Neonatal (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

3,4,8-Trimethyl-1H,2H,3H-imidazo[4,5-F]quinoxalin-2-imine (EXP)

beta-naphthoflavone (EXP)

Calphostin C (EXP)

carbamazepine (EXP)

curcumin (EXP)

irinotecan (EXP)

N-hydroxy-PhIP (EXP)

PhIP (EXP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Hyperbilirubinemia (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:1339448	PMID:9295054	PMID:10836148	PMID:11325819	PMID:11434514	PMID:11465080	PMID:12439739	PMID:14672974	PMID:15643497	PMID:15801936	PMID:15987428	PMID:16909274
PMID:18004212	PMID:18463975	PMID:18478930	PMID:18480185	PMID:19010793	PMID:19364959	PMID:20041166	PMID:20053997	PMID:20972438	PMID:21472492	PMID:21646302	PMID:21691256
PMID:21886157	PMID:22086872	PMID:22154984	PMID:22213127	PMID:22385482	PMID:22407023	PMID:22532026	PMID:22535333	PMID:22558097	PMID:22943825	PMID:23052946	PMID:23143693
PMID:23360619	PMID:23408116	PMID:23468910	PMID:23642732	PMID:23880823	PMID:24163127	PMID:24625756	PMID:24822274	PMID:24897286	PMID:25151207	PMID:25175642	PMID:25203739
PMID:25210794	PMID:26010150	PMID:28049773	PMID:28294511	PMID:28300668	PMID:29172698	PMID:29210323	PMID:33432840	PMID:37328712

Genomics

Variants

Variants in UGT1A
500 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_019075.4(UGT1A10):c.53T>C (p.Leu18Pro)	single nucleotide variant	not specified [RCV004106765]	Chr2:233636575 [GRCh38] Chr2:234545221 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.907G>A (p.Val303Met)	single nucleotide variant	UGT1A1-related condition [RCV003411667]\|not provided [RCV000728134]	Chr2:233767076 [GRCh38] Chr2:234675722 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1174C>T (p.Pro392Ser)	single nucleotide variant	not provided [RCV000729132]	Chr2:233768309 [GRCh38] Chr2:234676955 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1161C>T (p.Pro387=)	single nucleotide variant	UGT1A9-related condition [RCV003905548]\|not provided [RCV000594084]	Chr2:233768296 [GRCh38] Chr2:234676942 [GRCh37] Chr2:2q37.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
UGT1A1*28	microsatellite	Bilirubin, serum level of, quantitative trait locus 1 [RCV000022809]\|Bilirubin, serum level of, quantitative trait locus 1 [RCV001269334]\|Crigler-Najjar syndrome, type II [RCV000013065]\|Gilbert syndrome [RCV000013064]\|Irinotecan response [RCV000664404]\|Lucey-Driscoll syndrome [RCV000022808]\|not provided [RCV001093257]\|not specified [RCV000249621]	Chr2:233760233..233760234 [GRCh38] Chr2:234668881 [GRCh37] Chr2:2q37.1	pathogenic\|likely pathogenic\|association\|affects\|benign\|conflicting interpretations of pathogenicity\|drug response\|no classifications from unflagged records\|other
NM_000463.3(UGT1A1):c.1445C>T (p.Thr482Ile)	single nucleotide variant	not provided [RCV001812912]	Chr2:233772402 [GRCh38] Chr2:234681048 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.862-7110C>T	single nucleotide variant	atazanavir response - Other [RCV000211430]	Chr2:233759924 [GRCh38] Chr2:234668570 [GRCh37] Chr2:2q37.1	drug response
NM_019075.4(UGT1A10):c.855+34440del	deletion	SN-38 response - Other [RCV000211185]	Chr2:233671808 [GRCh38] Chr2:234580454 [GRCh37] Chr2:2q37.1	drug response
NM_007120.3(UGT1A4):c.142T>G (p.Leu48Val)	single nucleotide variant	lamotrigine response - Other [RCV000211299]	Chr2:233718962 [GRCh38] Chr2:234627608 [GRCh37] Chr2:2q37.1	drug response
NM_000463.3(UGT1A1):c.353dup (p.Asp119fs)	duplication	Crigler-Najjar syndrome type 1 [RCV000256423]\|Gilbert syndrome [RCV003445825]\|Inborn genetic diseases [RCV000622908]\|UGT1A1-related condition [RCV003920027]\|not provided [RCV003137872]	Chr2:233760634..233760635 [GRCh38] Chr2:234669280..234669281 [GRCh37] Chr2:2q37.1	pathogenic\|likely pathogenic
NM_019075.2(UGT1A10):c.491C>T (p.Pro164Leu)	single nucleotide variant	Malignant melanoma [RCV000060516]	Chr2:233637013 [GRCh38] Chr2:234545659 [GRCh37] Chr2:234210398 [NCBI36] Chr2:2q37.1	not provided
NM_019078.1(UGT1A5):c.459C>T (p.Pro153=)	single nucleotide variant	Malignant melanoma [RCV000060517]	Chr2:233713450 [GRCh38] Chr2:234622096 [GRCh37] Chr2:234286835 [NCBI36] Chr2:2q37.1	not provided
NM_007120.2(UGT1A4):c.771C>T (p.Phe257=)	single nucleotide variant	Malignant melanoma [RCV000060518]	Chr2:233719591 [GRCh38] Chr2:234628237 [GRCh37] Chr2:234292976 [NCBI36] Chr2:2q37.1	not provided
NM_000463.2(UGT1A1):c.347T>A (p.Ile116Lys)	single nucleotide variant	Malignant melanoma [RCV000060519]	Chr2:233760634 [GRCh38] Chr2:234669280 [GRCh37] Chr2:234334019 [NCBI36] Chr2:2q37.1	not provided
NM_019076.4(UGT1A8):c.365C>T (p.Ser122Leu)	single nucleotide variant	Malignant melanoma [RCV000065474]	Chr2:233618072 [GRCh38] Chr2:234526718 [GRCh37] Chr2:234191457 [NCBI36] Chr2:2q37.1	not provided
NM_019075.2(UGT1A10):c.265G>A (p.Glu89Lys)	single nucleotide variant	Malignant melanoma [RCV000065475]	Chr2:233636787 [GRCh38] Chr2:234545433 [GRCh37] Chr2:234210172 [NCBI36] Chr2:2q37.1	not provided
NM_019075.2(UGT1A10):c.838G>A (p.Gly280Arg)	single nucleotide variant	Malignant melanoma [RCV000065476]	Chr2:233637360 [GRCh38] Chr2:234546006 [GRCh37] Chr2:234210745 [NCBI36] Chr2:2q37.1	not provided
NM_021027.2(UGT1A9):c.445C>T (p.Pro149Ser)	single nucleotide variant	Malignant melanoma [RCV000065477]	Chr2:233672379 [GRCh38] Chr2:234581025 [GRCh37] Chr2:234245764 [NCBI36] Chr2:2q37.1	not provided
NM_001072.3(UGT1A6):c.278C>T (p.Ser93Leu)	single nucleotide variant	Malignant melanoma [RCV000065478]	Chr2:233693282 [GRCh38] Chr2:234601928 [GRCh37] Chr2:234266667 [NCBI36] Chr2:2q37.1	not provided
NM_019078.2(UGT1A5):c.134G>A (p.Arg45Gln)	single nucleotide variant	not specified [RCV004479506]	Chr2:233713125 [GRCh38] Chr2:234621771 [GRCh37] Chr2:234286510 [NCBI36] Chr2:2q37.1	uncertain significance\|not provided
NM_019078.1(UGT1A5):c.572C>T (p.Ser191Phe)	single nucleotide variant	Malignant melanoma [RCV000065480]	Chr2:233713563 [GRCh38] Chr2:234622209 [GRCh37] Chr2:234286948 [NCBI36] Chr2:2q37.1	not provided
NM_000463.3(UGT1A1):c.1075G>A (p.Asp359Asn)	single nucleotide variant	Gilbert syndrome [RCV001733511]\|not provided [RCV001810752]	Chr2:233767927 [GRCh38] Chr2:234676573 [GRCh37] Chr2:234341312 [NCBI36] Chr2:2q37.1	uncertain significance\|not provided
NM_019075.2(UGT1A10):c.855+38911C>T	single nucleotide variant	Lung cancer [RCV000091953]	Chr2:233676288 [GRCh38] Chr2:234584934 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.877_890delinsA (p.Tyr293fs)	indel	Crigler-Najjar syndrome type 1 [RCV000013053]\|not provided [RCV000594259]	Chr2:233767046..233767059 [GRCh38] Chr2:234675692..234675705 [GRCh37] Chr2:2q37.1	pathogenic
NM_000463.3(UGT1A1):c.1124C>T (p.Ser375Phe)	single nucleotide variant	Crigler-Najjar syndrome [RCV003387719]\|Crigler-Najjar syndrome type 1 [RCV000013054]\|not provided [RCV001851815]	Chr2:233768259 [GRCh38] Chr2:234676905 [GRCh37] Chr2:2q37.1	pathogenic
NM_000463.3(UGT1A1):c.991C>T (p.Gln331Ter)	single nucleotide variant	Crigler-Najjar syndrome type 1 [RCV000013055]	Chr2:233767160 [GRCh38] Chr2:234675806 [GRCh37] Chr2:2q37.1	pathogenic
NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter)	single nucleotide variant	Crigler-Najjar syndrome type 1 [RCV000013056]\|Gilbert syndrome [RCV000013057]\|not provided [RCV001818151]	Chr2:233767873 [GRCh38] Chr2:234676519 [GRCh37] Chr2:2q37.1	pathogenic\|affects
NM_000463.3(UGT1A1):c.992A>G (p.Gln331Arg)	single nucleotide variant	Crigler-Najjar syndrome, type II [RCV000013058]\|not provided [RCV001818152]	Chr2:233767161 [GRCh38] Chr2:234675807 [GRCh37] Chr2:2q37.1	pathogenic\|likely pathogenic
NM_000463.3(UGT1A1):c.510CTT[1] (p.Phe171del)	microsatellite	Crigler-Najjar syndrome type 1 [RCV000013059]\|not provided [RCV003556007]	Chr2:233760795..233760797 [GRCh38] Chr2:234669441..234669443 [GRCh37] Chr2:2q37.1	pathogenic
NM_000463.3(UGT1A1):c.923G>A (p.Gly308Glu)	single nucleotide variant	Crigler-Najjar syndrome type 1 [RCV000013060]\|Gilbert syndrome [RCV002247330]\|not provided [RCV003114188]	Chr2:233767092 [GRCh38] Chr2:234675738 [GRCh37] Chr2:2q37.1	pathogenic\|likely pathogenic
NM_000463.3(UGT1A1):c.840C>A (p.Cys280Ter)	single nucleotide variant	Crigler-Najjar syndrome type 1 [RCV000013061]	Chr2:233761127 [GRCh38] Chr2:234669773 [GRCh37] Chr2:2q37.1	pathogenic
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln)	single nucleotide variant	Crigler-Najjar syndrome, type II [RCV000013063]\|Gilbert syndrome [RCV000013062]\|UGT1A1-related condition [RCV003390674]\|not provided [RCV000299521]\|not specified [RCV000147905]	Chr2:233760973 [GRCh38] Chr2:234669619 [GRCh37] Chr2:2q37.1	pathogenic\|affects\|benign\|conflicting interpretations of pathogenicity\|uncertain significance\|other
NM_000463.3(UGT1A1):c.474_475insT (p.Ile159fs)	insertion	Crigler-Najjar syndrome type 1 [RCV000013067]	Chr2:233760761..233760762 [GRCh38] Chr2:234669407..234669408 [GRCh37] Chr2:2q37.1	pathogenic
NM_000463.3(UGT1A1):c.864+1G>C	single nucleotide variant	Crigler-Najjar syndrome type 1 [RCV000013068]\|not provided [RCV000731416]	Chr2:233761152 [GRCh38] Chr2:234669798 [GRCh37] Chr2:2q37.1	pathogenic
NM_000463.3(UGT1A1):c.145C>T (p.Gln49Ter)	single nucleotide variant	Crigler-Najjar syndrome type 1 [RCV000013069]	Chr2:233760432 [GRCh38] Chr2:234669078 [GRCh37] Chr2:2q37.1	pathogenic
NM_000463.3(UGT1A1):c.1085-2A>G	single nucleotide variant	Crigler-Najjar syndrome type 1 [RCV000013070]	Chr2:233768218 [GRCh38] Chr2:234676864 [GRCh37] Chr2:2q37.1	pathogenic
UGT1A1*6	single nucleotide variant	Bilirubin, serum level of, quantitative trait locus 1 [RCV000022811]\|Crigler-Najjar syndrome, type II [RCV000987059]\|Gilbert syndrome [RCV000013071]\|Irinotecan response [RCV000664403]\|Lucey-Driscoll syndrome [RCV000022810]\|not provided [RCV001508487]\|not specified [RCV000173139]	Chr2:233760498 [GRCh38] Chr2:234669144 [GRCh37] Chr2:2q37.1	pathogenic\|likely pathogenic\|association\|affects\|benign\|likely benign\|conflicting interpretations of pathogenicity\|drug response\|other
NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp)	single nucleotide variant	Bilirubin, serum level of, quantitative trait locus 1 [RCV000763480]\|Crigler-Najjar syndrome, type II [RCV000013074]\|Gilbert syndrome [RCV000999563]\|Hyperbilirubinemia [RCV000147900]\|Lucey-Driscoll syndrome [RCV000013073]\|UGT1A1-related condition [RCV003944818]\|not provided [RCV001810853]	Chr2:233772413 [GRCh38] Chr2:234681059 [GRCh37] Chr2:2q37.1	pathogenic\|likely pathogenic
NM_001072.4(UGT1A6):c.862-8098=	single nucleotide variant	Lucey-Driscoll syndrome [RCV000013075]	Chr2:233758936 [GRCh38] Chr2:234667582 [GRCh37] Chr2:2q37.1	pathogenic
NM_000463.3(UGT1A1):c.1070A>G (p.Gln357Arg)	single nucleotide variant	Crigler-Najjar syndrome type 1 [RCV000013076]\|Gilbert syndrome [RCV003987318]\|not provided [RCV003488338]	Chr2:233767922 [GRCh38] Chr2:234676568 [GRCh37] Chr2:2q37.1	pathogenic\|likely pathogenic
NM_000463.3(UGT1A1):c.524T>A (p.Leu175Gln)	single nucleotide variant	Crigler-Najjar syndrome, type II [RCV000013078]\|UGT1A1-related condition [RCV003934828]\|not provided [RCV000726992]	Chr2:233760811 [GRCh38] Chr2:234669457 [GRCh37] Chr2:2q37.1	pathogenic\|likely pathogenic\|other
NM_000463.3(UGT1A1):c.1198A>G (p.Asn400Asp)	single nucleotide variant	Crigler-Najjar syndrome, type II [RCV000013079]\|Gilbert syndrome [RCV000013080]\|UGT1A1-Related Disorders [RCV000779315]	Chr2:233768333 [GRCh38] Chr2:234676979 [GRCh37] Chr2:2q37.1	pathogenic\|affects\|uncertain significance
NM_000463.3(UGT1A1):c.44T>G (p.Leu15Arg)	single nucleotide variant	Bilirubin, serum level of, quantitative trait locus 1 [RCV002496334]\|Crigler-Najjar syndrome, type II [RCV000013081]\|not provided [RCV001529911]	Chr2:233760331 [GRCh38] Chr2:234668977 [GRCh37] Chr2:2q37.1	pathogenic\|likely pathogenic
NM_001072.4(UGT1A6):c.862-10021T>G	single nucleotide variant	Crigler-Najjar syndrome type 1 [RCV003883117]\|Gilbert syndrome [RCV000999557]\|Gilbert syndrome, susceptibility to [RCV000013082]\|UGT1A9-related condition [RCV003914830]\|not provided [RCV001810854]	Chr2:233757013 [GRCh38] Chr2:234665659 [GRCh37] Chr2:2q37.1	pathogenic\|likely pathogenic\|risk factor\|benign\|uncertain significance
NM_000463.3(UGT1A1):c.864+2842G>T	single nucleotide variant	Bilirubin, serum level of, quantitative trait locus 1 [RCV000013083]\|Gilbert syndrome [RCV000999560]	Chr2:233763993 [GRCh38] Chr2:234672639 [GRCh37] Chr2:2q37.1	association\|benign
NC_000002.11:g.234668881_234668882TA[5][6][7][8]	microsatellite	SN-38 response - Other [RCV000211306]\|atazanavir and ritonavir response - Toxicity/ADR [RCV000211183]\|irinotecan response - Toxicity/ADR [RCV000211397]	Chr2:233760235..233760236 [GRCh38] Chr2:234668881..234668882 [GRCh37] Chr2:2q37.1	drug response
NM_000463.3(UGT1A1):c.1084+1G>T	single nucleotide variant	Hyperbilirubinemia [RCV000147893]\|not provided [RCV000733614]	Chr2:233767937 [GRCh38] Chr2:234676583 [GRCh37] Chr2:2q37.1	pathogenic\|likely pathogenic
NM_000463.3(UGT1A1):c.1231G>T (p.Val411Leu)	single nucleotide variant	Hyperbilirubinemia [RCV000147894]\|UGT1A1-related condition [RCV003927446]\|not provided [RCV000731958]	Chr2:233768366 [GRCh38] Chr2:234677012 [GRCh37] Chr2:2q37.1	likely benign\|uncertain significance
NM_000463.3(UGT1A1):c.1354G>T (p.Val452Leu)	single nucleotide variant	Hyperbilirubinemia [RCV000147895]	Chr2:233772311 [GRCh38] Chr2:234680957 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1413G>A (p.Ala471=)	single nucleotide variant	Hyperbilirubinemia [RCV000147896]	Chr2:233772370 [GRCh38] Chr2:234681016 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.141C>A (p.Ile47=)	single nucleotide variant	Hyperbilirubinemia [RCV000147897]	Chr2:233760428 [GRCh38] Chr2:234669074 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.141C>T (p.Ile47=)	single nucleotide variant	Crigler-Najjar syndrome [RCV001139759]\|Gilbert syndrome [RCV001139760]\|Hyperbilirubinemia [RCV000147898]\|Lucey-Driscoll syndrome [RCV001139758]\|UGT1A1-related condition [RCV003917459]\|not provided [RCV000963286]\|not specified [RCV000383880]	Chr2:233760428 [GRCh38] Chr2:234669074 [GRCh37] Chr2:2q37.1	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000463.3(UGT1A1):c.1428C>T (p.Pro476=)	single nucleotide variant	Crigler-Najjar syndrome [RCV001140744]\|Gilbert syndrome [RCV001140745]\|Lucey-Driscoll syndrome [RCV001140746]\|not provided [RCV000956057]\|not specified [RCV000147899]	Chr2:233772385 [GRCh38] Chr2:234681031 [GRCh37] Chr2:2q37.1	benign\|likely benign\|uncertain significance
NM_000463.3(UGT1A1):c.322C>T (p.Arg108Cys)	single nucleotide variant	Crigler-Najjar syndrome, type II [RCV003388574]\|Gilbert syndrome [RCV002288658]\|Hyperbilirubinemia [RCV000147901]\|Inborn genetic diseases [RCV002515992]\|not provided [RCV003718124]	Chr2:233760609 [GRCh38] Chr2:234669255 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.476T>C (p.Ile159Thr)	single nucleotide variant	Hyperbilirubinemia [RCV000147902]	Chr2:233760763 [GRCh38] Chr2:234669409 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.479T>A (p.Val160Glu)	single nucleotide variant	Crigler-Najjar syndrome type 1 [RCV001450052]\|Hyperbilirubinemia [RCV000147903]	Chr2:233760766 [GRCh38] Chr2:234669412 [GRCh37] Chr2:2q37.1	likely pathogenic\|uncertain significance
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly)	single nucleotide variant	Crigler-Najjar syndrome [RCV000348706]\|Crigler-Najjar syndrome type 1 [RCV001004164]\|Gilbert syndrome [RCV000313763]\|Hyperbilirubinemia [RCV000147904]\|Inborn genetic diseases [RCV002514850]\|Lucey-Driscoll syndrome [RCV000396791]\|UGT1A1-related condition [RCV003415983]\|not provided [RCV000592026]	Chr2:233760961 [GRCh38] Chr2:234669607 [GRCh37] Chr2:2q37.1	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|other
NM_000463.3(UGT1A1):c.748T>C (p.Ser250Pro)	single nucleotide variant	Crigler-Najjar syndrome [RCV001140642]\|Gilbert syndrome [RCV001142507]\|Hyperbilirubinemia [RCV000147906]\|Lucey-Driscoll syndrome [RCV001142508]\|not provided [RCV000728350]	Chr2:233761035 [GRCh38] Chr2:234669681 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.996+15T>C	single nucleotide variant	Crigler-Najjar syndrome [RCV000299727]\|Gilbert syndrome [RCV000263302]\|Hyperbilirubinemia [RCV000147907]\|Lucey-Driscoll syndrome [RCV000354615]\|not provided [RCV002055942]	Chr2:233767180 [GRCh38] Chr2:234675826 [GRCh37] Chr2:2q37.1	benign\|likely benign\|uncertain significance
GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	copy number gain	See cases [RCV000134169]	Chr2:228723579..241404867 [GRCh38] Chr2:229588295..242344282 [GRCh37] Chr2:229296539..241992955 [NCBI36] Chr2:2q36.3-37.3	pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	copy number gain	See cases [RCV000135934]	Chr2:210579676..242126245 [GRCh38] Chr2:211444400..243059659 [GRCh37] Chr2:211152645..242717069 [NCBI36] Chr2:2q34-37.3	pathogenic
GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	copy number gain	See cases [RCV000136967]	Chr2:228014149..234976424 [GRCh38] Chr2:228878865..235885068 [GRCh37] Chr2:228587109..235549807 [NCBI36] Chr2:2q36.3-37.2	pathogenic
NM_021027.3(UGT1A9):c.855+45828G>A	single nucleotide variant	not specified [RCV000202759]	Chr2:233718617 [GRCh38] Chr2:234627263 [GRCh37] Chr2:2q37.1	uncertain significance
NM_021027.3(UGT1A9):c.1420G>T (p.Ala474Ser)	single nucleotide variant	not specified [RCV000203111]	Chr2:233772386 [GRCh38] Chr2:234681032 [GRCh37] Chr2:2q37.1	uncertain significance
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	copy number gain	See cases [RCV000142307]	Chr2:189436149..241841232 [GRCh38] Chr2:190300875..242783384 [GRCh37] Chr2:190009120..242432057 [NCBI36] Chr2:2q32.2-37.3	pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	copy number gain	See cases [RCV000143216]	Chr2:218101759..242126245 [GRCh38] Chr2:218966482..243059659 [GRCh37] Chr2:218674727..242717069 [NCBI36] Chr2:2q35-37.3	pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	copy number loss	See cases [RCV000148260]	Chr2:231770279..242126245 [GRCh38] Chr2:232634989..243059659 [GRCh37] Chr2:232343233..242717069 [NCBI36] Chr2:2q37.1-37.3	pathogenic
GRCh38/hg38 2q37.1(chr2:233420162-233761780)x3	copy number gain	See cases [RCV000050828]	Chr2:233420162..233761780 [GRCh38] Chr2:234229606..234670426 [GRCh37] Chr2:233894345..234335165 [NCBI36] Chr2:2q37.1	uncertain significance
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	copy number loss	See cases [RCV000050304]	Chr2:231770279..242126245 [GRCh38] Chr2:232634989..243059659 [GRCh37] Chr2:232343233..242717069 [NCBI36] Chr2:2q37.1-37.3	pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	copy number gain	See cases [RCV000051119]	Chr2:194898783..236473913 [GRCh38] Chr2:195763507..237382556 [GRCh37] Chr2:195471752..237047295 [NCBI36] Chr2:2q32.3-37.3	pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	copy number loss	See cases [RCV000052637]	Chr2:226978129..236886599 [GRCh38] Chr2:227842845..237795242 [GRCh37] Chr2:227551089..237459981 [NCBI36] Chr2:2q36.3-37.3	pathogenic
GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	copy number loss	See cases [RCV000052638]	Chr2:227343278..235339168 [GRCh38] Chr2:228207994..236247812 [GRCh37] Chr2:227916238..235912551 [NCBI36] Chr2:2q36.3-37.2	pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231375505-242065208)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]\|See cases [RCV000052639]	Chr2:231375505..242065208 [GRCh38] Chr2:232240216..243007359 [GRCh37] Chr2:231948460..242656032 [NCBI36] Chr2:2q37.1-37.3	pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:232857728-242065349)x1	copy number loss	See cases [RCV000052640]	Chr2:232857728..242065349 [GRCh38] Chr2:233722438..243007500 [GRCh37] Chr2:233430682..242656173 [NCBI36] Chr2:2q37.1-37.3	pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	copy number gain	See cases [RCV000052958]	Chr2:188818195..242065208 [GRCh38] Chr2:189682921..243007359 [GRCh37] Chr2:189391166..242656032 [NCBI36] Chr2:2q32.2-37.3	pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	copy number loss	See cases [RCV000052641]	Chr2:233420162..242086301 [GRCh38] Chr2:233995840..243028452 [GRCh37] Chr2:233704084..242677125 [NCBI36] Chr2:2q37.1-37.3	pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	copy number loss	See cases [RCV000052642]	Chr2:233453611..242099155 [GRCh38] Chr2:234362257..243041306 [GRCh37] Chr2:234026996..242689979 [NCBI36] Chr2:2q37.1-37.3	pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	copy number gain	See cases [RCV000052959]	Chr2:190310736..241892770 [GRCh38] Chr2:191175462..242834921 [GRCh37] Chr2:190883707..242483594 [NCBI36] Chr2:2q32.2-37.3	pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]\|See cases [RCV000052960]	Chr2:193122313..241074980 [GRCh38] Chr2:193987039..242014395 [GRCh37] Chr2:193695284..241663068 [NCBI36] Chr2:2q32.3-37.3	pathogenic
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]\|See cases [RCV000052972]	Chr2:223992431..242126245 [GRCh38] Chr2:224857148..243059659 [GRCh37] Chr2:224565392..242717069 [NCBI36] Chr2:2q36.1-37.3	pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	copy number gain	See cases [RCV000052973]	Chr2:227803148..242086301 [GRCh38] Chr2:228667864..243028452 [GRCh37] Chr2:228376108..242677125 [NCBI36] Chr2:2q36.3-37.3	pathogenic
GRCh38/hg38 2q37.1(chr2:233687049-234225737)x1	copy number loss	See cases [RCV000053813]	Chr2:233687049..234225737 [GRCh38] Chr2:234595695..235134381 [GRCh37] Chr2:234260434..234799120 [NCBI36] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1122T>C (p.Gly374=)	single nucleotide variant	Crigler-Najjar syndrome [RCV000359133]\|Gilbert syndrome [RCV000324135]\|Lucey-Driscoll syndrome [RCV000264419]\|not provided [RCV000178105]	Chr2:233768257 [GRCh38] Chr2:234676903 [GRCh37] Chr2:2q37.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_000463.3(UGT1A1):c.1352C>T (p.Pro451Leu)	single nucleotide variant	Bilirubin, serum level of, quantitative trait locus 1 [RCV002478593]\|not provided [RCV000178772]	Chr2:233772309 [GRCh38] Chr2:234680955 [GRCh37] Chr2:2q37.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)	single nucleotide variant	Bilirubin, serum level of, quantitative trait locus 1 [RCV000763479]\|Crigler-Najjar syndrome type 1 [RCV001250229]\|Gilbert syndrome [RCV000999562]\|Hyperbilirubinemia [RCV000194762]\|UGT1A1-related condition [RCV003401059]\|not provided [RCV000300556]\|not specified [RCV003987438]	Chr2:233768226 [GRCh38] Chr2:234676872 [GRCh37] Chr2:2q37.1	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|other
NM_000463.3(UGT1A1):c.238_239insGTAC (p.Pro80fs)	insertion	Hyperbilirubinemia [RCV000193803]\|UGT1A1-related condition [RCV003955175]\|not provided [RCV003565392]	Chr2:233760524..233760525 [GRCh38] Chr2:234669170..234669171 [GRCh37] Chr2:2q37.1	pathogenic
NM_000463.3(UGT1A1):c.722_723del (p.Glu241fs)	microsatellite	Crigler-Najjar syndrome type 1 [RCV001450051]\|Hyperbilirubinemia [RCV000194838]\|UGT1A1-Related Disorders [RCV003315235]\|not provided [RCV000594736]	Chr2:233761003..233761004 [GRCh38] Chr2:234669649..234669650 [GRCh37] Chr2:2q37.1	pathogenic
NM_000463.3(UGT1A1):c.1069C>T (p.Gln357Ter)	single nucleotide variant	not provided [RCV000378373]	Chr2:233767921 [GRCh38] Chr2:234676567 [GRCh37] Chr2:2q37.1	pathogenic
NM_001072.4(UGT1A6):c.348G>C (p.Met116Ile)	single nucleotide variant	not provided [RCV000756864]	Chr2:233693352 [GRCh38] Chr2:234601998 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019076.5(UGT1A8):c.855+64203C>A	single nucleotide variant	not provided [RCV001811469]	Chr2:233682765 [GRCh38] Chr2:234591411 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019077.3(UGT1A7):c.352G>T (p.Asp118Tyr)	single nucleotide variant	not provided [RCV000756866]	Chr2:233682289 [GRCh38] Chr2:234590935 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019077.3(UGT1A7):c.565T>C (p.Tyr189His)	single nucleotide variant	not provided [RCV000756867]	Chr2:233682502 [GRCh38] Chr2:234591148 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.862-9898G>A	single nucleotide variant	Gilbert syndrome [RCV000999558]\|irinotecan response - Toxicity [RCV001788391]	Chr2:233757136 [GRCh38] Chr2:234665782 [GRCh37] Chr2:2q37.1	likely benign\|drug response
NM_000463.3(UGT1A1):c.864+2925T>G	single nucleotide variant	Gilbert syndrome [RCV000999561]	Chr2:233764076 [GRCh38] Chr2:234672722 [GRCh37] Chr2:2q37.1	benign
NM_000463.3(UGT1A1):c.294T>C (p.Asn98=)	single nucleotide variant	Crigler-Najjar syndrome [RCV000376048]\|Gilbert syndrome [RCV000321659]\|Lucey-Driscoll syndrome [RCV000286475]\|UGT1A1-related condition [RCV003910297]\|not provided [RCV002057676]	Chr2:233760581 [GRCh38] Chr2:234669227 [GRCh37] Chr2:2q37.1	likely benign\|uncertain significance
NM_000463.3(UGT1A1):c.1322T>C (p.Met441Thr)	single nucleotide variant	Crigler-Najjar syndrome [RCV000378763]\|Gilbert syndrome [RCV000270243]\|Lucey-Driscoll syndrome [RCV000325272]\|UGT1A9-related condition [RCV003957727]\|not provided [RCV000732528]	Chr2:233772279 [GRCh38] Chr2:234680925 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.*339G>C	single nucleotide variant	Crigler-Najjar syndrome [RCV000278221]\|Gilbert syndrome [RCV000404223]\|Lucey-Driscoll syndrome [RCV000338732]	Chr2:233772898 [GRCh38] Chr2:234681544 [GRCh37] Chr2:2q37.1	benign\|likely benign
NM_000463.3(UGT1A1):c.*440G>C	single nucleotide variant	Crigler-Najjar syndrome [RCV000303713]\|Gilbert syndrome [RCV000406231]\|Lucey-Driscoll syndrome [RCV000358476]	Chr2:233772999 [GRCh38] Chr2:234681645 [GRCh37] Chr2:2q37.1	benign\|likely benign
NM_000463.3(UGT1A1):c.300T>C (p.Phe100=)	single nucleotide variant	Crigler-Najjar syndrome [RCV000341435]\|Gilbert syndrome [RCV000287802]\|Lucey-Driscoll syndrome [RCV000381982]\|not provided [RCV000731664]	Chr2:233760587 [GRCh38] Chr2:234669233 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.*201G>A	single nucleotide variant	Crigler-Najjar syndrome [RCV000384335]\|Gilbert syndrome [RCV000331006]\|Lucey-Driscoll syndrome [RCV000289955]	Chr2:233772760 [GRCh38] Chr2:234681406 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.*211T>C	single nucleotide variant	Crigler-Najjar syndrome [RCV000350782]\|Gilbert syndrome [RCV000295923]\|Lucey-Driscoll syndrome [RCV000385532]\|not provided [RCV001636937]	Chr2:233772770 [GRCh38] Chr2:234681416 [GRCh37] Chr2:2q37.1	benign\|likely benign
NM_000463.3(UGT1A1):c.477C>T (p.Ile159=)	single nucleotide variant	Crigler-Najjar syndrome [RCV000312449]\|Gilbert syndrome [RCV000347475]\|Lucey-Driscoll syndrome [RCV000405057]\|not provided [RCV000598199]	Chr2:233760764 [GRCh38] Chr2:234669410 [GRCh37] Chr2:2q37.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_000463.3(UGT1A1):c.326T>C (p.Val109Ala)	single nucleotide variant	Crigler-Najjar syndrome [RCV001137634]\|Gilbert syndrome [RCV001137635]\|Lucey-Driscoll syndrome [RCV001137633]\|UGT1A1-related condition [RCV003897650]\|not provided [RCV000270224]	Chr2:233760613 [GRCh38] Chr2:234669259 [GRCh37] Chr2:2q37.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_000463.3(UGT1A1):c.1099C>T (p.Arg367Cys)	single nucleotide variant	Bilirubin, serum level of, quantitative trait locus 1 [RCV002480034]\|UGT1A1-related condition [RCV003417905]\|not provided [RCV000306415]	Chr2:233768234 [GRCh38] Chr2:234676880 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1073A>C (p.Asn358Thr)	single nucleotide variant	not provided [RCV000342307]	Chr2:233767925 [GRCh38] Chr2:234676571 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.577G>A (p.Val193Met)	single nucleotide variant	Crigler-Najjar syndrome [RCV001140637]\|Gilbert syndrome [RCV001139858]\|Inborn genetic diseases [RCV002518136]\|Lucey-Driscoll syndrome [RCV001140638]\|not provided [RCV000344287]	Chr2:233760864 [GRCh38] Chr2:234669510 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.138C>T (p.Ala46=)	single nucleotide variant	not provided [RCV000314468]	Chr2:233760425 [GRCh38] Chr2:234669071 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.575A>G (p.Tyr192Cys)	single nucleotide variant	not provided [RCV000315749]	Chr2:233760862 [GRCh38] Chr2:234669508 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.137C>T (p.Ala46Val)	single nucleotide variant	Bilirubin, serum level of, quantitative trait locus 1 [RCV002504027]\|not provided [RCV000386459]	Chr2:233760424 [GRCh38] Chr2:234669070 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.540A>G (p.Glu180=)	single nucleotide variant	Crigler-Najjar syndrome [RCV001139856]\|Gilbert syndrome [RCV001139855]\|Lucey-Driscoll syndrome [RCV001139857]\|not provided [RCV000727204]\|not specified [RCV000389831]	Chr2:233760827 [GRCh38] Chr2:234669473 [GRCh37] Chr2:2q37.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000463.3(UGT1A1):c.1175C>T (p.Pro392Leu)	single nucleotide variant	not provided [RCV000286346]	Chr2:233768310 [GRCh38] Chr2:234676956 [GRCh37] Chr2:2q37.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_000463.3(UGT1A1):c.1324C>T (p.Arg442Cys)	single nucleotide variant	Bilirubin, serum level of, quantitative trait locus 1 [RCV000765634]\|Crigler-Najjar syndrome [RCV001139988]\|not provided [RCV000725932]	Chr2:233772281 [GRCh38] Chr2:234680927 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019078.2(UGT1A5):c.520A>G (p.Arg174Gly)	single nucleotide variant	not specified [RCV004291452]	Chr2:233713511 [GRCh38] Chr2:234622157 [GRCh37] Chr2:2q37.1	uncertain significance
NM_007120.3(UGT1A4):c.11G>A (p.Gly4Glu)	single nucleotide variant	not specified [RCV004322361]	Chr2:233718831 [GRCh38] Chr2:234627477 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.801C>T (p.Pro267=)	single nucleotide variant	not provided [RCV000596531]	Chr2:233761088 [GRCh38] Chr2:234669734 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.*585G>T	single nucleotide variant	Crigler-Najjar syndrome [RCV000364364]\|Gilbert syndrome [RCV000304991]\|Lucey-Driscoll syndrome [RCV000394302]	Chr2:233773144 [GRCh38] Chr2:234681790 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.399C>G (p.Asn133Lys)	single nucleotide variant	not provided [RCV000598431]	Chr2:233760686 [GRCh38] Chr2:234669332 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.835A>T (p.Asn279Tyr)	single nucleotide variant	Crigler-Najjar syndrome, type II [RCV000987060]\|UGT1A1-related condition [RCV003392429]\|not provided [RCV000591882]	Chr2:233761122 [GRCh38] Chr2:234669768 [GRCh37] Chr2:2q37.1	pathogenic\|uncertain significance
NM_000463.3(UGT1A1):c.1459C>T (p.His487Tyr)	single nucleotide variant	not provided [RCV000598546]	Chr2:233772416 [GRCh38] Chr2:234681062 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1564G>A (p.Gly522Arg)	single nucleotide variant	not provided [RCV000591971]	Chr2:233772521 [GRCh38] Chr2:234681167 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.19G>A (p.Gly7Ser)	single nucleotide variant	not provided [RCV000592885]	Chr2:233760306 [GRCh38] Chr2:234668952 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1208G>A (p.Arg403His)	single nucleotide variant	not provided [RCV000593141]	Chr2:233768343 [GRCh38] Chr2:234676989 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1156G>A (p.Val386Ile)	single nucleotide variant	UGT1A1-related condition [RCV003962665]\|not provided [RCV000591349]	Chr2:233768291 [GRCh38] Chr2:234676937 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1108A>G (p.Ile370Val)	single nucleotide variant	Gilbert syndrome [RCV002289999]\|not provided [RCV000730540]	Chr2:233768243 [GRCh38] Chr2:234676889 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.838T>G (p.Cys280Gly)	single nucleotide variant	Crigler-Najjar syndrome [RCV001142509]\|Gilbert syndrome [RCV001142511]\|Lucey-Driscoll syndrome [RCV001142510]\|not provided [RCV000730662]	Chr2:233761125 [GRCh38] Chr2:234669771 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1348C>T (p.Arg450Cys)	single nucleotide variant	UGT1A1-related condition [RCV003411677]\|not provided [RCV000731951]	Chr2:233772305 [GRCh38] Chr2:234680951 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.142C>G (p.Gln48Glu)	single nucleotide variant	Crigler-Najjar syndrome [RCV001139762]\|Gilbert syndrome [RCV001139763]\|Lucey-Driscoll syndrome [RCV001139761]\|not provided [RCV000733745]	Chr2:233760429 [GRCh38] Chr2:234669075 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.22G>A (p.Gly8Arg)	single nucleotide variant	Inborn genetic diseases [RCV004027072]\|not provided [RCV000733748]	Chr2:233760309 [GRCh38] Chr2:234668955 [GRCh37] Chr2:2q37.1	likely benign\|uncertain significance
NM_000463.3(UGT1A1):c.159G>A (p.Arg53=)	single nucleotide variant	UGT1A1-related condition [RCV003955477]\|not provided [RCV000734333]	Chr2:233760446 [GRCh38] Chr2:234669092 [GRCh37] Chr2:2q37.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000463.3(UGT1A1):c.1558A>G (p.Lys520Glu)	single nucleotide variant	not provided [RCV000595503]	Chr2:233772515 [GRCh38] Chr2:234681161 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1060T>A (p.Trp354Arg)	single nucleotide variant	not provided [RCV000733106]	Chr2:233767912 [GRCh38] Chr2:234676558 [GRCh37] Chr2:2q37.1	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000463.3(UGT1A1):c.1458C>T (p.Tyr486=)	single nucleotide variant	not provided [RCV000733119]	Chr2:233772415 [GRCh38] Chr2:234681061 [GRCh37] Chr2:2q37.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_000463.3(UGT1A1):c.195G>A (p.Ser65=)	single nucleotide variant	not provided [RCV000735145]	Chr2:233760482 [GRCh38] Chr2:234669128 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1100G>T (p.Arg367Leu)	single nucleotide variant	not provided [RCV000728545]	Chr2:233768235 [GRCh38] Chr2:234676881 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.862-6799_862-6798insTA	insertion	Gilbert syndrome [RCV000999559]\|UGT1A1-Related Disorders [RCV003315252]\|not provided [RCV000730016]	Chr2:233760235..233760236 [GRCh38] Chr2:234668881..234668882 [GRCh37] Chr2:2q37.1	pathogenic\|other
NM_000463.3(UGT1A1):c.817G>T (p.Val273Phe)	single nucleotide variant	not provided [RCV000731403]	Chr2:233761104 [GRCh38] Chr2:234669750 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.167A>C (p.Glu56Ala)	single nucleotide variant	Crigler-Najjar syndrome [RCV001140529]\|Gilbert syndrome [RCV001140530]\|Lucey-Driscoll syndrome [RCV001140528]\|not provided [RCV000732295]	Chr2:233760454 [GRCh38] Chr2:234669100 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.-4C>T	single nucleotide variant	not provided [RCV000733270]	Chr2:233760284 [GRCh38] Chr2:234668930 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1110_1150delinsGC (p.Ile370_Asn384delinsMetHis)	indel	not provided [RCV000731500]	Chr2:233768245..233768285 [GRCh38] Chr2:234676891..234676931 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1160_1161delinsGT (p.Pro387Arg)	indel	not provided [RCV000733308]	Chr2:233768295..233768296 [GRCh38] Chr2:234676941..234676942 [GRCh37] Chr2:2q37.1	likely pathogenic
NM_000463.3(UGT1A1):c.1026A>T (p.Pro342=)	single nucleotide variant	not provided [RCV000734728]	Chr2:233767878 [GRCh38] Chr2:234676524 [GRCh37] Chr2:2q37.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_000463.3(UGT1A1):c.428G>A (p.Ser143Asn)	single nucleotide variant	not provided [RCV000732619]	Chr2:233760715 [GRCh38] Chr2:234669361 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.386A>G (p.His129Arg)	single nucleotide variant	Crigler-Najjar syndrome [RCV001137639]\|Gilbert syndrome [RCV001137640]\|Lucey-Driscoll syndrome [RCV001139854]\|not provided [RCV000729869]	Chr2:233760673 [GRCh38] Chr2:234669319 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1170G>A (p.Met390Ile)	single nucleotide variant	not provided [RCV000732927]	Chr2:233768305 [GRCh38] Chr2:234676951 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1470C>T (p.Asp490=)	single nucleotide variant	not provided [RCV000731910]	Chr2:233772427 [GRCh38] Chr2:234681073 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1198A>C (p.Asn400His)	single nucleotide variant	not provided [RCV000729304]	Chr2:233768333 [GRCh38] Chr2:234676979 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1455G>A (p.Gln485=)	single nucleotide variant	not provided [RCV000731934]	Chr2:233772412 [GRCh38] Chr2:234681058 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1544G>T (p.Arg515Leu)	single nucleotide variant	Inborn genetic diseases [RCV004027022]\|not provided [RCV000731935]	Chr2:233772501 [GRCh38] Chr2:234681147 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1349G>A (p.Arg450His)	single nucleotide variant	UGT1A1-related condition [RCV003420314]\|not provided [RCV000734944]	Chr2:233772306 [GRCh38] Chr2:234680952 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1084G>A (p.Gly362Ser)	single nucleotide variant	UGT1A1-related condition [RCV003419798]\|not provided [RCV000482866]	Chr2:233767936 [GRCh38] Chr2:234676582 [GRCh37] Chr2:2q37.1	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000463.3(UGT1A1):c.625C>T (p.Arg209Trp)	single nucleotide variant	Crigler-Najjar syndrome [RCV000503589]\|Crigler-Najjar syndrome, type II [RCV001727734]\|Inborn genetic diseases [RCV000623653]\|UGT1A1-related condition [RCV003403178]\|not provided [RCV002508784]	Chr2:233760912 [GRCh38] Chr2:234669558 [GRCh37] Chr2:2q37.1	pathogenic\|likely pathogenic
NM_000463.3(UGT1A1):c.1006C>T (p.Arg336Trp)	single nucleotide variant	Crigler-Najjar syndrome [RCV000503685]\|not provided [RCV000730191]	Chr2:233767858 [GRCh38] Chr2:234676504 [GRCh37] Chr2:2q37.1	pathogenic
NM_000463.3(UGT1A1):c.222C>A (p.Tyr74Ter)	single nucleotide variant	Crigler-Najjar syndrome [RCV000501478]\|not provided [RCV000597815]	Chr2:233760509 [GRCh38] Chr2:234669155 [GRCh37] Chr2:2q37.1	pathogenic
NM_000463.3(UGT1A1):c.592T>C (p.Ser198Pro)	single nucleotide variant	not specified [RCV000501526]	Chr2:233760879 [GRCh38] Chr2:234669525 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.609_632del (p.His203_Lys211delinsGln)	deletion	Crigler-Najjar syndrome [RCV000503758]\|not provided [RCV001857182]	Chr2:233760895..233760918 [GRCh38] Chr2:234669541..234669564 [GRCh37] Chr2:2q37.1	pathogenic\|likely pathogenic
NM_000463.3(UGT1A1):c.72G>A (p.Val24=)	single nucleotide variant	Bilirubin, serum level of, quantitative trait locus 1 [RCV002496961]\|not specified [RCV000499372]	Chr2:233760359 [GRCh38] Chr2:234669005 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.622_625dup (p.Arg209fs)	duplication	Crigler-Najjar syndrome [RCV000500693]\|not provided [RCV000598144]	Chr2:233760908..233760909 [GRCh38] Chr2:234669555..234669558 [GRCh37] Chr2:2q37.1	pathogenic
NM_019076.5(UGT1A8):c.855+63319T>G	single nucleotide variant	not provided [RCV001707715]	Chr2:233681881 [GRCh38] Chr2:234590527 [GRCh37] Chr2:2q37.1	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_019076.5(UGT1A8):c.856-73715A>G	single nucleotide variant	not provided [RCV001811013]	Chr2:233693319 [GRCh38] Chr2:234601965 [GRCh37] Chr2:2q37.1	benign
NM_019076.5(UGT1A8):c.855+63766C>A	single nucleotide variant	not provided [RCV001539578]	Chr2:233682328 [GRCh38] Chr2:234590974 [GRCh37] Chr2:2q37.1	benign
NM_019076.5(UGT1A8):c.855+64131G>A	single nucleotide variant	not provided [RCV001709662]	Chr2:233682693 [GRCh38] Chr2:234591339 [GRCh37] Chr2:2q37.1	benign
NM_019076.5(UGT1A8):c.856-73478A>C	single nucleotide variant	not provided [RCV001811014]	Chr2:233693556 [GRCh38] Chr2:234602202 [GRCh37] Chr2:2q37.1	benign
NM_019076.5(UGT1A8):c.855+63408C>A	single nucleotide variant	not provided [RCV001653878]	Chr2:233681970 [GRCh38] Chr2:234590616 [GRCh37] Chr2:2q37.1	benign
NM_019076.5(UGT1A8):c.856-73403G>T	single nucleotide variant	not provided [RCV001707714]	Chr2:233693631 [GRCh38] Chr2:234602277 [GRCh37] Chr2:2q37.1	benign
NM_019076.5(UGT1A8):c.855+63767G>A	single nucleotide variant	not provided [RCV000946698]	Chr2:233682329 [GRCh38] Chr2:234590975 [GRCh37] Chr2:2q37.1	benign
NM_019076.5(UGT1A8):c.856-73489A>G	single nucleotide variant	not provided [RCV001811015]	Chr2:233693545 [GRCh38] Chr2:234602191 [GRCh37] Chr2:2q37.1	benign
NM_019076.5(UGT1A8):c.856-74011T>G	single nucleotide variant	not provided [RCV001811012]	Chr2:233693023 [GRCh38] Chr2:234601669 [GRCh37] Chr2:2q37.1	benign
NM_205862.1(UGT1A6):c.61-6800_61-6799delAT	deletion	not specified [RCV000507576]	Chr2:233760234..233760235 [GRCh38] Chr2:234668880..234668881 [GRCh37] Chr2:2q37.1	benign
NM_019076.5(UGT1A8):c.855+63997T>C	single nucleotide variant	not provided [RCV001692163]	Chr2:233682559 [GRCh38] Chr2:234591205 [GRCh37] Chr2:2q37.1	benign
NM_019076.5(UGT1A8):c.855+63762T>G	single nucleotide variant	not provided [RCV001618721]	Chr2:233682324 [GRCh38] Chr2:234590970 [GRCh37] Chr2:2q37.1	benign
NM_000463.3(UGT1A1):c.996+18C>T	single nucleotide variant	not provided [RCV001523096]	Chr2:233767183 [GRCh38] Chr2:234675829 [GRCh37] Chr2:2q37.1	benign
NM_021027.3(UGT1A9):c.769T>G (p.Phe257Val)	single nucleotide variant	not specified [RCV004297027]	Chr2:233672703 [GRCh38] Chr2:234581349 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1085G>T (p.Gly362Val)	single nucleotide variant	UGT1A1-related condition [RCV003945384]\|not provided [RCV000595778]	Chr2:233768220 [GRCh38] Chr2:234676866 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1555G>A (p.Gly519Arg)	single nucleotide variant	not provided [RCV000595876]	Chr2:233772512 [GRCh38] Chr2:234681158 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019075.4(UGT1A10):c.77G>A (p.Gly26Glu)	single nucleotide variant	not specified [RCV004300663]	Chr2:233636599 [GRCh38] Chr2:234545245 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1207C>T (p.Arg403Cys)	single nucleotide variant	Bilirubin, serum level of, quantitative trait locus 1 [RCV000765633]\|not provided [RCV000595005]	Chr2:233768342 [GRCh38] Chr2:234676988 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019075.4(UGT1A10):c.62G>C (p.Gly21Ala)	single nucleotide variant	not specified [RCV004297801]	Chr2:233636584 [GRCh38] Chr2:234545230 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.210C>G (p.Asp70Glu)	single nucleotide variant	not provided [RCV000595368]	Chr2:233760497 [GRCh38] Chr2:234669143 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019078.2(UGT1A5):c.720G>C (p.Gln240His)	single nucleotide variant	not specified [RCV004305249]	Chr2:233713711 [GRCh38] Chr2:234622357 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.754G>T (p.Val252Phe)	single nucleotide variant	not specified [RCV004313416]	Chr2:233693758 [GRCh38] Chr2:234602404 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.189C>T (p.Asp63=)	single nucleotide variant	Crigler-Najjar syndrome [RCV001140532]\|Gilbert syndrome [RCV001140531]\|Lucey-Driscoll syndrome [RCV001140533]\|UGT1A1-related condition [RCV003980091]\|not provided [RCV000596864]	Chr2:233760476 [GRCh38] Chr2:234669122 [GRCh37] Chr2:2q37.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000463.3(UGT1A1):c.1001T>A (p.Leu334Gln)	single nucleotide variant	not provided [RCV000594635]	Chr2:233767853 [GRCh38] Chr2:234676499 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1495G>A (p.Val499Met)	single nucleotide variant	not provided [RCV000513472]	Chr2:233772452 [GRCh38] Chr2:234681098 [GRCh37] Chr2:2q37.1	uncertain significance
UGT1A1*1	microsatellite	Irinotecan response [RCV000664402]	Chr2:233760235..233760248 [GRCh38] Chr2:234668881..234668894 [GRCh37] Chr2:2q37.1	drug response
NM_000463.3(UGT1A1):c.1567C>T (p.Arg523Ter)	single nucleotide variant	Crigler-Najjar syndrome [RCV000661992]\|Crigler-Najjar syndrome, type II [RCV003152724]\|not provided [RCV000661993]	Chr2:233772524 [GRCh38] Chr2:234681170 [GRCh37] Chr2:2q37.1	likely pathogenic\|uncertain significance
UGT1A1*36	microsatellite	Irinotecan response [RCV000664406]\|UGT1A9-related condition [RCV003965423]\|not provided [RCV001515198]	Chr2:233760234..233760235 [GRCh38] Chr2:234668880..234668881 [GRCh37] Chr2:2q37.1	benign\|drug response
UGT1A1*37	microsatellite	Irinotecan response [RCV000664405]\|UGT1A9-related condition [RCV003892146]\|not provided [RCV001508486]	Chr2:233760233..233760234 [GRCh38] Chr2:234668879..234668880 [GRCh37] Chr2:2q37.1	pathogenic\|conflicting interpretations of pathogenicity\|drug response\|uncertain significance
NM_019078.2(UGT1A5):c.695del (p.Ala232fs)	deletion	not provided [RCV000709907]	Chr2:233713686 [GRCh38] Chr2:234622332 [GRCh37] Chr2:2q37.1	likely benign\|not provided
NM_000463.3(UGT1A1):c.1220del (p.Lys407fs)	deletion	Crigler-Najjar syndrome, type II [RCV002466687]\|not provided [RCV001573511]	Chr2:233768354 [GRCh38] Chr2:234677000 [GRCh37] Chr2:2q37.1	pathogenic
NM_019076.5(UGT1A8):c.988-82T>C	single nucleotide variant	not provided [RCV001692534]	Chr2:233767767 [GRCh38] Chr2:234676413 [GRCh37] Chr2:2q37.1	benign
NM_001072.4(UGT1A6):c.861+35946G>C	single nucleotide variant	not provided [RCV001812447]	Chr2:233729811 [GRCh38] Chr2:234638457 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019093.4(UGT1A3):c.473C>T (p.Ala158Val)	single nucleotide variant	not provided [RCV000971729]	Chr2:233729599 [GRCh38] Chr2:234638245 [GRCh37] Chr2:2q37.1	likely benign
NM_019078.2(UGT1A5):c.742C>A (p.Leu248Ile)	single nucleotide variant	not provided [RCV000949486]	Chr2:233713733 [GRCh38] Chr2:234622379 [GRCh37] Chr2:2q37.1	benign
NM_019078.2(UGT1A5):c.745G>C (p.Val249Leu)	single nucleotide variant	not provided [RCV000949487]	Chr2:233713736 [GRCh38] Chr2:234622382 [GRCh37] Chr2:2q37.1	benign
NM_019076.5(UGT1A8):c.856-53268G>C	single nucleotide variant	not provided [RCV000949488]	Chr2:233713766 [GRCh38] Chr2:234622412 [GRCh37] Chr2:2q37.1	benign
NM_019078.2(UGT1A5):c.783T>C (p.Phe261=)	single nucleotide variant	not provided [RCV000949489]	Chr2:233713774 [GRCh38] Chr2:234622420 [GRCh37] Chr2:2q37.1	benign
NM_001072.4(UGT1A6):c.862-23412C>T	single nucleotide variant	not provided [RCV000903724]	Chr2:233743622 [GRCh38] Chr2:234652268 [GRCh37] Chr2:2q37.1	benign
NM_000463.3(UGT1A1):c.672C>T (p.Asp224=)	single nucleotide variant	not provided [RCV000902971]	Chr2:233760959 [GRCh38] Chr2:234669605 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.1084+7T>C	single nucleotide variant	not provided [RCV000943280]	Chr2:233767943 [GRCh38] Chr2:234676589 [GRCh37] Chr2:2q37.1	likely benign
NM_019093.4(UGT1A3):c.-66T>C	single nucleotide variant	Levothyroxine response [RCV003317020]	Chr2:233729061 [GRCh38] Chr2:234637707 [GRCh37] Chr2:2q37.1	other
NM_000463.3(UGT1A1):c.1494C>T (p.Val498=)	single nucleotide variant	not provided [RCV000919303]	Chr2:233772451 [GRCh38] Chr2:234681097 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.414C>G (p.Ala138=)	single nucleotide variant	not provided [RCV000925296]	Chr2:233760701 [GRCh38] Chr2:234669347 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.964A>G (p.Ile322Val)	single nucleotide variant	Crigler-Najjar syndrome [RCV001142513]\|Gilbert syndrome [RCV001142514]\|Lucey-Driscoll syndrome [RCV001142512]\|not provided [RCV000898514]	Chr2:233767133 [GRCh38] Chr2:234675779 [GRCh37] Chr2:2q37.1	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_019076.5(UGT1A8):c.765A>G (p.Thr255=)	single nucleotide variant	not provided [RCV000953467]	Chr2:233618472 [GRCh38] Chr2:234527118 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.282T>C (p.Ser94=)	single nucleotide variant	UGT1A1-related condition [RCV003895536]\|not provided [RCV000909203]	Chr2:233760569 [GRCh38] Chr2:234669215 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.933C>A (p.Val311=)	single nucleotide variant	not provided [RCV000879248]	Chr2:233767102 [GRCh38] Chr2:234675748 [GRCh37] Chr2:2q37.1	likely benign
NM_021027.3(UGT1A9):c.225G>A (p.Lys75=)	single nucleotide variant	not provided [RCV000973231]\|not specified [RCV004029971]	Chr2:233672159 [GRCh38] Chr2:234580805 [GRCh37] Chr2:2q37.1	benign\|likely benign
NM_001072.4(UGT1A6):c.523C>G (p.Pro175Ala)	single nucleotide variant	not specified [RCV004287943]	Chr2:233693527 [GRCh38] Chr2:234602173 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.268C>T (p.Arg90Cys)	single nucleotide variant	not specified [RCV004294803]	Chr2:233693272 [GRCh38] Chr2:234601918 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.733C>T (p.Gln245Ter)	single nucleotide variant	UGT1A1-Related Disorders [RCV000779314]	Chr2:233761020 [GRCh38] Chr2:234669666 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.25C>T (p.Arg9Cys)	single nucleotide variant	Crigler-Najjar syndrome [RCV001139757]\|Gilbert syndrome [RCV001137542]\|Lucey-Driscoll syndrome [RCV001139756]	Chr2:233760312 [GRCh38] Chr2:234668958 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.*188T>G	single nucleotide variant	Crigler-Najjar syndrome [RCV001137855]\|Gilbert syndrome [RCV001137857]\|Lucey-Driscoll syndrome [RCV001137856]	Chr2:233772747 [GRCh38] Chr2:234681393 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.361G>C (p.Ala121Pro)	single nucleotide variant	Crigler-Najjar syndrome [RCV001137636]\|Gilbert syndrome [RCV001137638]\|Lucey-Driscoll syndrome [RCV001137637]	Chr2:233760648 [GRCh38] Chr2:234669294 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019078.2(UGT1A5):c.261C>T (p.Asp87=)	single nucleotide variant	not provided [RCV000960014]	Chr2:233713252 [GRCh38] Chr2:234621898 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.*133G>A	single nucleotide variant	Crigler-Najjar syndrome [RCV001137852]\|Gilbert syndrome [RCV001137853]\|Lucey-Driscoll syndrome [RCV001137854]	Chr2:233772692 [GRCh38] Chr2:234681338 [GRCh37] Chr2:2q37.1	uncertain significance
NC_000002.12:g.233760235TA[5_11]	microsatellite	Levothyroxine response [RCV003317021]	Chr2:233760235..233760246 [GRCh38] Chr2:2q37.1	other
NM_000463.3(UGT1A1):c.*269C>T	single nucleotide variant	Crigler-Najjar syndrome [RCV001140867]\|Gilbert syndrome [RCV001140868]\|Lucey-Driscoll syndrome [RCV001140106]	Chr2:233772828 [GRCh38] Chr2:234681474 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.*301G>A	single nucleotide variant	Crigler-Najjar syndrome [RCV001140869]\|Gilbert syndrome [RCV001140870]\|Lucey-Driscoll syndrome [RCV001140871]	Chr2:233772860 [GRCh38] Chr2:234681506 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.175G>T (p.Val59Phe)	single nucleotide variant	not provided [RCV001531353]	Chr2:233760462 [GRCh38] Chr2:234669108 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.669C>T (p.Cys223=)	single nucleotide variant	not provided [RCV000907601]	Chr2:233760956 [GRCh38] Chr2:234669602 [GRCh37] Chr2:2q37.1	likely benign
NM_019078.2(UGT1A5):c.849C>T (p.Asn283=)	single nucleotide variant	not provided [RCV000887657]	Chr2:233713840 [GRCh38] Chr2:234622486 [GRCh37] Chr2:2q37.1	benign
NM_000463.3(UGT1A1):c.1518C>A (p.Thr506=)	single nucleotide variant	Crigler-Najjar syndrome [RCV001142606]\|Gilbert syndrome [RCV001140747]\|Lucey-Driscoll syndrome [RCV001142607]	Chr2:233772475 [GRCh38] Chr2:234681121 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.*674G>A	single nucleotide variant	Crigler-Najjar syndrome [RCV001138391]\|Gilbert syndrome [RCV001138392]\|Lucey-Driscoll syndrome [RCV001138390]	Chr2:233773233 [GRCh38] Chr2:234681879 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.*84T>C	single nucleotide variant	Crigler-Najjar syndrome [RCV001142611]\|Gilbert syndrome [RCV001142613]\|Lucey-Driscoll syndrome [RCV001142612]	Chr2:233772643 [GRCh38] Chr2:234681289 [GRCh37] Chr2:2q37.1	uncertain significance
NM_021027.3(UGT1A9):c.1443C>T (p.Tyr481=)	single nucleotide variant	not provided [RCV000912430]	Chr2:233772409 [GRCh38] Chr2:234681055 [GRCh37] Chr2:2q37.1	likely benign
NM_019075.4(UGT1A10):c.597T>C (p.Asp199=)	single nucleotide variant	not provided [RCV000956056]	Chr2:233637119 [GRCh38] Chr2:234545765 [GRCh37] Chr2:2q37.1	benign
NM_001072.4(UGT1A6):c.229A>G (p.Ile77Val)	single nucleotide variant	not specified [RCV004308563]	Chr2:233693233 [GRCh38] Chr2:234601879 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019076.5(UGT1A8):c.856-6852T>C	single nucleotide variant	UGT1A1-related condition [RCV003910956]\|not provided [RCV001675212]	Chr2:233760182 [GRCh38] Chr2:234668828 [GRCh37] Chr2:2q37.1	benign
NM_019076.5(UGT1A8):c.855+51220C>T	single nucleotide variant	not provided [RCV001672009]	Chr2:233669782 [GRCh38] Chr2:234578428 [GRCh37] Chr2:2q37.1	benign
NM_019076.5(UGT1A8):c.855+63270T>G	single nucleotide variant	not provided [RCV001713991]	Chr2:233681832 [GRCh38] Chr2:234590478 [GRCh37] Chr2:2q37.1	benign
NM_019076.5(UGT1A8):c.988-100_988-99dup	duplication	not provided [RCV001655533]	Chr2:233767747..233767748 [GRCh38] Chr2:234676393..234676394 [GRCh37] Chr2:2q37.1	benign
NM_019076.5(UGT1A8):c.1076-79G>A	single nucleotide variant	not provided [RCV001718427]	Chr2:233768141 [GRCh38] Chr2:234676787 [GRCh37] Chr2:2q37.1	benign
NM_000463.3(UGT1A1):c.1548A>T (p.Lys516Asn)	single nucleotide variant	Crigler-Najjar syndrome [RCV001142608]\|Gilbert syndrome [RCV001142610]\|Lucey-Driscoll syndrome [RCV001142609]\|not provided [RCV002557037]	Chr2:233772505 [GRCh38] Chr2:234681151 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.*419T>C	single nucleotide variant	Crigler-Najjar syndrome [RCV001142717]\|Gilbert syndrome [RCV001142719]\|Lucey-Driscoll syndrome [RCV001142718]	Chr2:233772978 [GRCh38] Chr2:234681624 [GRCh37] Chr2:2q37.1	benign\|uncertain significance
NM_000463.3(UGT1A1):c.1410C>T (p.Gly470=)	single nucleotide variant	Crigler-Najjar syndrome [RCV001139989]\|Gilbert syndrome [RCV001140740]\|Lucey-Driscoll syndrome [RCV001139990]	Chr2:233772367 [GRCh38] Chr2:234681013 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1411G>A (p.Ala471Thr)	single nucleotide variant	Crigler-Najjar syndrome [RCV001140743]\|Gilbert syndrome [RCV001140741]\|Lucey-Driscoll syndrome [RCV001140742]\|UGT1A1-related condition [RCV003405344]	Chr2:233772368 [GRCh38] Chr2:234681014 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1028C>T (p.Ser343Leu)	single nucleotide variant	UGT1A1-related condition [RCV003413794]\|not provided [RCV003103885]	Chr2:233767880 [GRCh38] Chr2:234676526 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019075.4(UGT1A10):c.855+44683G>A	single nucleotide variant	not specified [RCV001002262]	Chr2:233682060 [GRCh38] Chr2:234590706 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.146T>G (p.Leu49Arg)	single nucleotide variant	not specified [RCV001002384]	Chr2:233693150 [GRCh38] Chr2:234601796 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019075.4(UGT1A10):c.855+44828T>C	single nucleotide variant	not specified [RCV001002503]	Chr2:233682205 [GRCh38] Chr2:234590851 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019076.5(UGT1A8):c.988-37T>C	single nucleotide variant	not provided [RCV001671504]	Chr2:233767812 [GRCh38] Chr2:234676458 [GRCh37] Chr2:2q37.1	benign
NM_019076.5(UGT1A8):c.1296-229A>C	single nucleotide variant	not provided [RCV001681735]	Chr2:233772033 [GRCh38] Chr2:234680679 [GRCh37] Chr2:2q37.1	benign
NM_019076.5(UGT1A8):c.988-83C>T	single nucleotide variant	not provided [RCV001694717]	Chr2:233767766 [GRCh38] Chr2:234676412 [GRCh37] Chr2:2q37.1	benign
NM_001072.4(UGT1A6):c.105C>T (p.Asp35=)	single nucleotide variant	not provided [RCV001811562]	Chr2:233693109 [GRCh38] Chr2:234601755 [GRCh37] Chr2:2q37.1	benign
NM_000463.3(UGT1A1):c.239_240insGTAC (p.Val81fs)	insertion	not specified [RCV001001244]	Chr2:233760525..233760526 [GRCh38] Chr2:234669171..234669172 [GRCh37] Chr2:2q37.1	pathogenic
NM_000463.3(UGT1A1):c.1180T>C (p.Phe394Leu)	single nucleotide variant	Crigler-Najjar syndrome [RCV001137750]\|Gilbert syndrome [RCV001139987]\|Lucey-Driscoll syndrome [RCV001139986]	Chr2:233768315 [GRCh38] Chr2:234676961 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.*461G>T	single nucleotide variant	Crigler-Najjar syndrome [RCV001137974]\|Gilbert syndrome [RCV001137973]\|Lucey-Driscoll syndrome [RCV001137975]	Chr2:233773020 [GRCh38] Chr2:234681666 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.584G>A (p.Arg195Lys)	single nucleotide variant	Crigler-Najjar syndrome [RCV001140639]\|Gilbert syndrome [RCV001140641]\|Inborn genetic diseases [RCV002556996]\|Lucey-Driscoll syndrome [RCV001140640]\|not provided [RCV001858918]	Chr2:233760871 [GRCh38] Chr2:234669517 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.288G>A (p.Gly96=)	single nucleotide variant	Crigler-Najjar syndrome [RCV001142380]\|Gilbert syndrome [RCV001142381]\|Lucey-Driscoll syndrome [RCV001140534]	Chr2:233760575 [GRCh38] Chr2:234669221 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019075.4(UGT1A10):c.855+44822C>T	single nucleotide variant	not provided [RCV001812414]	Chr2:233682199 [GRCh38] Chr2:234590845 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.931del (p.Val311fs)	deletion	Crigler-Najjar syndrome type 1 [RCV001559125]	Chr2:233767099 [GRCh38] Chr2:234675745 [GRCh37] Chr2:2q37.1	pathogenic
NM_001072.4(UGT1A6):c.554G>A (p.Ser185Asn)	single nucleotide variant	not provided [RCV001813138]	Chr2:233693558 [GRCh38] Chr2:234602204 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.557C>T (p.Pro186Leu)	single nucleotide variant	not provided [RCV001810694]	Chr2:233693561 [GRCh38] Chr2:234602207 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019076.5(UGT1A8):c.855+63766_855+63767delinsAA	indel	not provided [RCV001812622]	Chr2:233682328..233682329 [GRCh38] Chr2:234590974..234590975 [GRCh37] Chr2:2q37.1	benign
NM_001072.4(UGT1A6):c.214T>C (p.Tyr72His)	single nucleotide variant	not provided [RCV001813055]	Chr2:233693218 [GRCh38] Chr2:234601864 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.389dup (p.Leu130fs)	duplication	Crigler-Najjar syndrome type 1 [RCV001543696]	Chr2:233760674..233760675 [GRCh38] Chr2:234669320..234669321 [GRCh37] Chr2:2q37.1	pathogenic
NM_000463.3(UGT1A1):c.679dup (p.Tyr227fs)	duplication	not provided [RCV001382093]	Chr2:233760963..233760964 [GRCh38] Chr2:234669609..234669610 [GRCh37] Chr2:2q37.1	pathogenic
NM_019076.5(UGT1A8):c.856-113C>T	single nucleotide variant	not provided [RCV001715892]	Chr2:233766921 [GRCh38] Chr2:234675567 [GRCh37] Chr2:2q37.1	benign
NM_019076.5(UGT1A8):c.987+307A>G	single nucleotide variant	not provided [RCV001715863]	Chr2:233767472 [GRCh38] Chr2:234676118 [GRCh37] Chr2:2q37.1	benign
NM_019076.5(UGT1A8):c.856-5794C>T	single nucleotide variant	not provided [RCV001694434]	Chr2:233761240 [GRCh38] Chr2:234669886 [GRCh37] Chr2:2q37.1	benign
NM_000463.3(UGT1A1):c.1305-15T>C	single nucleotide variant	not provided [RCV001508488]	Chr2:233772247 [GRCh38] Chr2:234680893 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.380_381insGG (p.Cys127fs)	insertion	Crigler-Najjar syndrome type 1 [RCV001509551]	Chr2:233760666..233760667 [GRCh38] Chr2:234669312..234669313 [GRCh37] Chr2:2q37.1	pathogenic
NM_000463.3(UGT1A1):c.1304+1G>T	single nucleotide variant	Gilbert syndrome [RCV002246803]	Chr2:233768440 [GRCh38] Chr2:234677086 [GRCh37] Chr2:2q37.1	pathogenic
NM_000463.3(UGT1A1):c.1060T>G (p.Trp354Gly)	single nucleotide variant	UGT1A1-related disorder [RCV002280264]	Chr2:233767912 [GRCh38] Chr2:234676558 [GRCh37] Chr2:2q37.1	likely pathogenic
NM_019075.4(UGT1A10):c.855+45435G>A	single nucleotide variant	not provided [RCV002227316]	Chr2:233682812 [GRCh38] Chr2:234591458 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.1349G>T (p.Arg450Leu)	single nucleotide variant	Crigler-Najjar syndrome, type II [RCV003108246]	Chr2:233772306 [GRCh38] Chr2:234680952 [GRCh37] Chr2:2q37.1	likely pathogenic
NM_000463.3(UGT1A1):c.471C>T (p.Ser157=)	single nucleotide variant	UGT1A1-related condition [RCV003913381]\|not provided [RCV001811725]	Chr2:233760758 [GRCh38] Chr2:234669404 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.826G>C (p.Gly276Arg)	single nucleotide variant	Crigler-Najjar syndrome, type II [RCV001808119]	Chr2:233761113 [GRCh38] Chr2:234669759 [GRCh37] Chr2:2q37.1	pathogenic
NM_000463.3(UGT1A1):c.996+2_996+5del	deletion	not provided [RCV001817728]	Chr2:233767165..233767168 [GRCh38] Chr2:234675811..234675814 [GRCh37] Chr2:2q37.1	likely pathogenic
NM_000463.3(UGT1A1):c.1381T>C (p.Trp461Arg)	single nucleotide variant	UGT1A1-related condition [RCV003941167]\|not provided [RCV001817805]	Chr2:233772338 [GRCh38] Chr2:234680984 [GRCh37] Chr2:2q37.1	pathogenic\|likely pathogenic
NM_000463.3(UGT1A1):c.573del (p.Tyr192fs)	deletion	not provided [RCV001817998]	Chr2:233760859 [GRCh38] Chr2:234669505 [GRCh37] Chr2:2q37.1	likely pathogenic
NM_019076.5(UGT1A8):c.855+63761_855+63762delinsGG	indel	not provided [RCV001811847]	Chr2:233682323..233682324 [GRCh38] Chr2:234590969..234590970 [GRCh37] Chr2:2q37.1	likely benign
NM_019075.4(UGT1A10):c.855+44982G>C	single nucleotide variant	not provided [RCV001812513]	Chr2:233682359 [GRCh38] Chr2:234591005 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1525TGT[1] (p.Cys510del)	microsatellite	not provided [RCV001811815]	Chr2:233772482..233772484 [GRCh38] Chr2:234681128..234681130 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1130G>T (p.Gly377Val)	single nucleotide variant	not provided [RCV001817729]\|not specified [RCV003317533]	Chr2:233768265 [GRCh38] Chr2:234676911 [GRCh37] Chr2:2q37.1	pathogenic\|uncertain significance
NM_000463.3(UGT1A1):c.1043del (p.Asn348fs)	deletion	not provided [RCV001817750]	Chr2:233767894 [GRCh38] Chr2:234676540 [GRCh37] Chr2:2q37.1	pathogenic
NM_000463.3(UGT1A1):c.269_270del (p.Glu90fs)	microsatellite	not provided [RCV001817823]	Chr2:233760554..233760555 [GRCh38] Chr2:234669200..234669201 [GRCh37] Chr2:2q37.1	pathogenic
NM_000463.3(UGT1A1):c.530G>A (p.Cys177Tyr)	single nucleotide variant	not provided [RCV001817838]	Chr2:233760817 [GRCh38] Chr2:234669463 [GRCh37] Chr2:2q37.1	pathogenic
NM_000463.3(UGT1A1):c.996+1G>A	single nucleotide variant	not provided [RCV001810760]	Chr2:233767166 [GRCh38] Chr2:234675812 [GRCh37] Chr2:2q37.1	likely pathogenic
NM_001072.4(UGT1A6):c.159del (p.His54fs)	deletion	not provided [RCV001811952]	Chr2:233693163 [GRCh38] Chr2:234601809 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019076.5(UGT1A8):c.855+63792G>C	single nucleotide variant	not provided [RCV001811691]	Chr2:233682354 [GRCh38] Chr2:234591000 [GRCh37] Chr2:2q37.1	likely benign
NM_019075.4(UGT1A10):c.855+45231T>C	single nucleotide variant	not provided [RCV001811793]	Chr2:233682608 [GRCh38] Chr2:234591254 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019076.5(UGT1A8):c.855+63761A>G	single nucleotide variant	not provided [RCV001811829]	Chr2:233682323 [GRCh38] Chr2:234590969 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.131T>A (p.Leu44His)	single nucleotide variant	not provided [RCV001811920]	Chr2:233760418 [GRCh38] Chr2:234669064 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1155C>T (p.Gly385=)	single nucleotide variant	UGT1A1-related condition [RCV003968674]\|not provided [RCV002001719]	Chr2:233768290 [GRCh38] Chr2:234676936 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.686C>T (p.Pro229Leu)	single nucleotide variant	Bilirubin, serum level of, quantitative trait locus 1 [RCV002503572]\|not provided [RCV001913560]	Chr2:233760973 [GRCh38] Chr2:234669619 [GRCh37] Chr2:2q37.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_000463.3(UGT1A1):c.80_93del (p.Ala27fs)	deletion	not provided [RCV001784004]	Chr2:233760365..233760378 [GRCh38] Chr2:234669011..234669024 [GRCh37] Chr2:2q37.1	pathogenic\|likely pathogenic
NM_000463.3(UGT1A1):c.865G>A (p.Glu289Lys)	single nucleotide variant	not provided [RCV001914047]	Chr2:233767034 [GRCh38] Chr2:234675680 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.358T>C (p.Ser120Pro)	single nucleotide variant	Crigler-Najjar syndrome, type II [RCV001823558]\|not provided [RCV003136180]	Chr2:233760645 [GRCh38] Chr2:234669291 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1568G>A (p.Arg523Gln)	single nucleotide variant	UGT1A1-related condition [RCV003958457]\|not provided [RCV002022208]	Chr2:233772525 [GRCh38] Chr2:234681171 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.559C>T (p.Pro187Ser)	single nucleotide variant	not provided [RCV002043643]	Chr2:233760846 [GRCh38] Chr2:234669492 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.862-6796A>G	single nucleotide variant	not provided [RCV001924232]	Chr2:233760238 [GRCh38] Chr2:234668884 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.977T>A (p.Leu326Ter)	single nucleotide variant	not provided [RCV001963056]	Chr2:233767146 [GRCh38] Chr2:234675792 [GRCh37] Chr2:2q37.1	pathogenic
NM_000463.3(UGT1A1):c.72dup (p.Ser25fs)	duplication	not provided [RCV001956317]	Chr2:233760358..233760359 [GRCh38] Chr2:234669004..234669005 [GRCh37] Chr2:2q37.1	pathogenic
NM_000463.3(UGT1A1):c.1022G>A (p.Arg341Gln)	single nucleotide variant	Gilbert syndrome [RCV002221166]\|not provided [RCV001936126]	Chr2:233767874 [GRCh38] Chr2:234676520 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.643A>G (p.Ile215Val)	single nucleotide variant	not provided [RCV001935712]	Chr2:233760930 [GRCh38] Chr2:234669576 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.578T>A (p.Val193Glu)	single nucleotide variant	not provided [RCV001994959]	Chr2:233760865 [GRCh38] Chr2:234669511 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1361C>T (p.Pro454Leu)	single nucleotide variant	not provided [RCV002011633]	Chr2:233772318 [GRCh38] Chr2:234680964 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.287G>A (p.Gly96Glu)	single nucleotide variant	not provided [RCV001875239]	Chr2:233760574 [GRCh38] Chr2:234669220 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1071A>G (p.Gln357=)	single nucleotide variant	UGT1A1-related condition [RCV003948764]\|not provided [RCV002051308]	Chr2:233767923 [GRCh38] Chr2:234676569 [GRCh37] Chr2:2q37.1	likely benign\|uncertain significance
NM_000463.3(UGT1A1):c.182C>G (p.Ala61Gly)	single nucleotide variant	Gilbert syndrome [RCV002221165]\|not provided [RCV001884843]	Chr2:233760469 [GRCh38] Chr2:234669115 [GRCh37] Chr2:2q37.1	likely pathogenic\|uncertain significance
NM_000463.3(UGT1A1):c.1475T>C (p.Ile492Thr)	single nucleotide variant	not provided [RCV001917540]	Chr2:233772432 [GRCh38] Chr2:234681078 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1463C>T (p.Ser488Phe)	single nucleotide variant	not provided [RCV002015911]\|not specified [RCV003323971]	Chr2:233772420 [GRCh38] Chr2:234681066 [GRCh37] Chr2:2q37.1	likely pathogenic\|uncertain significance
NM_000463.3(UGT1A1):c.1307A>G (p.Tyr436Cys)	single nucleotide variant	not provided [RCV002051536]	Chr2:233772264 [GRCh38] Chr2:234680910 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.849A>G (p.Gln283=)	single nucleotide variant	not provided [RCV001884798]	Chr2:233761136 [GRCh38] Chr2:234669782 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1373C>T (p.Ala458Val)	single nucleotide variant	not provided [RCV001937913]	Chr2:233772330 [GRCh38] Chr2:234680976 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1185T>G (p.Gly395=)	single nucleotide variant	not provided [RCV002206878]	Chr2:233768320 [GRCh38] Chr2:234676966 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.1412C>T (p.Ala471Val)	single nucleotide variant	UGT1A1-related condition [RCV003971197]\|not provided [RCV002227344]	Chr2:233772369 [GRCh38] Chr2:234681015 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.900T>C (p.His300=)	single nucleotide variant	not provided [RCV002097912]	Chr2:233767069 [GRCh38] Chr2:234675715 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.2_17del (p.Met1fs)	deletion	Gilbert syndrome [RCV002226966]	Chr2:233760286..233760301 [GRCh38] Chr2:234668932..234668947 [GRCh37] Chr2:2q37.1	likely pathogenic
NM_000463.3(UGT1A1):c.990T>C (p.Pro330=)	single nucleotide variant	UGT1A1-related condition [RCV003933507]\|not provided [RCV002160468]	Chr2:233767159 [GRCh38] Chr2:234675805 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.917C>T (p.Ser306Phe)	single nucleotide variant	Gilbert syndrome [RCV002221190]	Chr2:233767086 [GRCh38] Chr2:234675732 [GRCh37] Chr2:2q37.1	likely pathogenic
NM_019076.5(UGT1A8):c.855+63718G>A	single nucleotide variant	not provided [RCV002227389]	Chr2:233682280 [GRCh38] Chr2:234590926 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.36C>T (p.Val12=)	single nucleotide variant	not provided [RCV002136316]	Chr2:233760323 [GRCh38] Chr2:234668969 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.1270G>T (p.Glu424Ter)	single nucleotide variant	Gilbert syndrome [RCV002221172]	Chr2:233768405 [GRCh38] Chr2:234677051 [GRCh37] Chr2:2q37.1	pathogenic
NM_000463.3(UGT1A1):c.200A>T (p.Tyr67Phe)	single nucleotide variant	Gilbert syndrome [RCV002221187]	Chr2:233760487 [GRCh38] Chr2:234669133 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.492_493del (p.Leu166fs)	deletion	Gilbert syndrome [RCV002221188]	Chr2:233760778..233760779 [GRCh38] Chr2:234669424..234669425 [GRCh37] Chr2:2q37.1	pathogenic
NM_000463.3(UGT1A1):c.719G>A (p.Arg240Lys)	single nucleotide variant	Gilbert syndrome [RCV002221189]	Chr2:233761006 [GRCh38] Chr2:234669652 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019075.4(UGT1A10):c.855+45414T>C	single nucleotide variant	not provided [RCV002227327]	Chr2:233682791 [GRCh38] Chr2:234591437 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.757G>T (p.Val253Phe)	single nucleotide variant	not provided [RCV003110768]	Chr2:233761044 [GRCh38] Chr2:234669690 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1382G>A (p.Trp461Ter)	single nucleotide variant	not provided [RCV003111951]	Chr2:233772339 [GRCh38] Chr2:234680985 [GRCh37] Chr2:2q37.1	pathogenic
NM_000463.3(UGT1A1):c.1002del (p.Trp335fs)	deletion	not provided [RCV003115001]	Chr2:233767854 [GRCh38] Chr2:234676500 [GRCh37] Chr2:2q37.1	pathogenic
NM_000463.3(UGT1A1):c.107A>G (p.Asp36Gly)	single nucleotide variant	not provided [RCV003120145]	Chr2:233760394 [GRCh38] Chr2:234669040 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.57G>A (p.Val19=)	single nucleotide variant	UGT1A1-related condition [RCV003946439]\|not provided [RCV003120153]	Chr2:233760344 [GRCh38] Chr2:234668990 [GRCh37] Chr2:2q37.1	likely benign
NM_001072.4(UGT1A6):c.18_19delinsTG (p.Ser7Ala)	indel	not provided [RCV003120189]	Chr2:233693022..233693023 [GRCh38] Chr2:234601668..234601669 [GRCh37] Chr2:2q37.1	likely benign
NM_019075.4(UGT1A10):c.855+45220C>T	single nucleotide variant	not provided [RCV003120198]	Chr2:233682597 [GRCh38] Chr2:234591243 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.741A>G (p.Leu247=)	single nucleotide variant	not provided [RCV003120248]	Chr2:233761028 [GRCh38] Chr2:234669674 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.510C>A (p.Phe170Leu)	single nucleotide variant	UGT1A1-related condition [RCV003900957]\|not provided [RCV003120353]	Chr2:233760797 [GRCh38] Chr2:234669443 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.179T>C (p.Leu60Pro)	single nucleotide variant	Lucey-Driscoll syndrome [RCV003233061]	Chr2:233760466 [GRCh38] Chr2:234669112 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.725del (p.Val242fs)	deletion	Crigler-Najjar syndrome type 1 [RCV002262166]	Chr2:233761012 [GRCh38] Chr2:234669658 [GRCh37] Chr2:2q37.1	pathogenic
NM_000463.3(UGT1A1):c.1208G>T (p.Arg403Leu)	single nucleotide variant	Crigler-Najjar syndrome type 1 [RCV002290144]	Chr2:233768343 [GRCh38] Chr2:234676989 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1173G>A (p.Met391Ile)	single nucleotide variant	Crigler-Najjar syndrome type 1 [RCV002290143]	Chr2:233768308 [GRCh38] Chr2:234676954 [GRCh37] Chr2:2q37.1	uncertain significance
NM_021027.3(UGT1A9):c.217A>G (p.Thr73Ala)	single nucleotide variant	not specified [RCV004325191]	Chr2:233672151 [GRCh38] Chr2:234580797 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019076.5(UGT1A8):c.338C>A (p.Ser113Tyr)	single nucleotide variant	not specified [RCV004307231]	Chr2:233618045 [GRCh38] Chr2:234526691 [GRCh37] Chr2:2q37.1	uncertain significance
NM_021027.3(UGT1A9):c.616A>G (p.Arg206Gly)	single nucleotide variant	not specified [RCV004306790]	Chr2:233672550 [GRCh38] Chr2:234581196 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019077.3(UGT1A7):c.827A>G (p.Asn276Ser)	single nucleotide variant	not specified [RCV004308792]	Chr2:233682764 [GRCh38] Chr2:234591410 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019076.5(UGT1A8):c.263G>A (p.Arg88Gln)	single nucleotide variant	not specified [RCV004327641]	Chr2:233617970 [GRCh38] Chr2:234526616 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019075.4(UGT1A10):c.586G>C (p.Gly196Arg)	single nucleotide variant	not specified [RCV004136221]	Chr2:233637108 [GRCh38] Chr2:234545754 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.862-23503A>T	single nucleotide variant	not specified [RCV004109567]	Chr2:233743531 [GRCh38] Chr2:234652177 [GRCh37] Chr2:2q37.1	uncertain significance
NM_007120.3(UGT1A4):c.140C>T (p.Ala47Val)	single nucleotide variant	not specified [RCV004237679]	Chr2:233718960 [GRCh38] Chr2:234627606 [GRCh37] Chr2:2q37.1	likely benign
NM_019076.5(UGT1A8):c.470T>A (p.Val157Asp)	single nucleotide variant	not specified [RCV004246970]	Chr2:233618177 [GRCh38] Chr2:234526823 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.164dup (p.His55fs)	duplication	not provided [RCV003033045]	Chr2:233760450..233760451 [GRCh38] Chr2:234669096..234669097 [GRCh37] Chr2:2q37.1	pathogenic
NM_000463.3(UGT1A1):c.1305-7T>A	single nucleotide variant	not provided [RCV002726545]	Chr2:233772255 [GRCh38] Chr2:234680901 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.244C>G (p.Pro82Ala)	single nucleotide variant	not provided [RCV002902942]	Chr2:233760531 [GRCh38] Chr2:234669177 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019077.3(UGT1A7):c.172G>T (p.Val58Phe)	single nucleotide variant	not specified [RCV004184883]	Chr2:233682109 [GRCh38] Chr2:234590755 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.862-6800AT[10]	microsatellite	not provided [RCV002617932]	Chr2:233760233..233760234 [GRCh38] Chr2:234668879..234668880 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019093.4(UGT1A3):c.472G>A (p.Ala158Thr)	single nucleotide variant	not specified [RCV004202875]	Chr2:233729598 [GRCh38] Chr2:234638244 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019075.4(UGT1A10):c.31C>G (p.Pro11Ala)	single nucleotide variant	not specified [RCV004110755]	Chr2:233636553 [GRCh38] Chr2:234545199 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.862-23200A>G	single nucleotide variant	not specified [RCV004100801]	Chr2:233743834 [GRCh38] Chr2:234652480 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019078.2(UGT1A5):c.496T>C (p.Ser166Pro)	single nucleotide variant	not specified [RCV004210764]	Chr2:233713487 [GRCh38] Chr2:234622133 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.244C>T (p.Pro82Ser)	single nucleotide variant	Inborn genetic diseases [RCV002860697]	Chr2:233760531 [GRCh38] Chr2:234669177 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019077.3(UGT1A7):c.283G>A (p.Asp95Asn)	single nucleotide variant	not specified [RCV004109762]	Chr2:233682220 [GRCh38] Chr2:234590866 [GRCh37] Chr2:2q37.1	likely benign
NM_019075.4(UGT1A10):c.649C>A (p.His217Asn)	single nucleotide variant	not specified [RCV004149389]	Chr2:233637171 [GRCh38] Chr2:234545817 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019093.4(UGT1A3):c.346A>G (p.Met116Val)	single nucleotide variant	not specified [RCV004200724]	Chr2:233729472 [GRCh38] Chr2:234638118 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.149T>G (p.Leu50Arg)	single nucleotide variant	not provided [RCV002881101]	Chr2:233760436 [GRCh38] Chr2:234669082 [GRCh37] Chr2:2q37.1	uncertain significance
NM_007120.3(UGT1A4):c.158C>G (p.Ala53Gly)	single nucleotide variant	not specified [RCV004147360]	Chr2:233718978 [GRCh38] Chr2:234627624 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1560A>G (p.Lys520=)	single nucleotide variant	not provided [RCV002993940]	Chr2:233772517 [GRCh38] Chr2:234681163 [GRCh37] Chr2:2q37.1	likely benign
NM_007120.3(UGT1A4):c.685G>T (p.Ala229Ser)	single nucleotide variant	not specified [RCV004158003]	Chr2:233719505 [GRCh38] Chr2:234628151 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1007G>T (p.Arg336Leu)	single nucleotide variant	Inborn genetic diseases [RCV002707874]	Chr2:233767859 [GRCh38] Chr2:234676505 [GRCh37] Chr2:2q37.1	likely pathogenic
NM_019077.3(UGT1A7):c.802A>C (p.Asn268His)	single nucleotide variant	not provided [RCV003491292]\|not specified [RCV004197412]	Chr2:233682739 [GRCh38] Chr2:234591385 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.862-23551T>C	single nucleotide variant	not specified [RCV004107188]	Chr2:233743483 [GRCh38] Chr2:234652129 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019076.5(UGT1A8):c.451G>A (p.Asp151Asn)	single nucleotide variant	not specified [RCV004213325]	Chr2:233618158 [GRCh38] Chr2:234526804 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1084+4T>C	single nucleotide variant	not provided [RCV002619885]	Chr2:233767940 [GRCh38] Chr2:234676586 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019075.4(UGT1A10):c.782A>G (p.Tyr261Cys)	single nucleotide variant	not specified [RCV004117401]	Chr2:233637304 [GRCh38] Chr2:234545950 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.596C>G (p.Ser199Cys)	single nucleotide variant	Inborn genetic diseases [RCV002707473]	Chr2:233760883 [GRCh38] Chr2:234669529 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1389G>C (p.Glu463Asp)	single nucleotide variant	not provided [RCV003078743]	Chr2:233772346 [GRCh38] Chr2:234680992 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.496C>T (p.Pro166Ser)	single nucleotide variant	not specified [RCV004113329]	Chr2:233693500 [GRCh38] Chr2:234602146 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019076.5(UGT1A8):c.721G>A (p.Ala241Thr)	single nucleotide variant	not specified [RCV004209296]	Chr2:233618428 [GRCh38] Chr2:234527074 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.997G>A (p.Val333Ile)	single nucleotide variant	not provided [RCV002592048]	Chr2:233767849 [GRCh38] Chr2:234676495 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019093.4(UGT1A3):c.667A>G (p.Ile223Val)	single nucleotide variant	not specified [RCV004237375]	Chr2:233729793 [GRCh38] Chr2:234638439 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.154C>T (p.Arg52Trp)	single nucleotide variant	not specified [RCV004239500]	Chr2:233693158 [GRCh38] Chr2:234601804 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019093.4(UGT1A3):c.380C>G (p.Ser127Cys)	single nucleotide variant	not specified [RCV004119479]	Chr2:233729506 [GRCh38] Chr2:234638152 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.111C>A (p.Gly37=)	single nucleotide variant	not provided [RCV003002110]	Chr2:233760398 [GRCh38] Chr2:234669044 [GRCh37] Chr2:2q37.1	likely benign
NM_007120.3(UGT1A4):c.476C>T (p.Ala159Val)	single nucleotide variant	not specified [RCV004204607]	Chr2:233719296 [GRCh38] Chr2:234627942 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019076.5(UGT1A8):c.101A>T (p.Asp34Val)	single nucleotide variant	not specified [RCV004227900]	Chr2:233617808 [GRCh38] Chr2:234526454 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.433G>C (p.Asp145His)	single nucleotide variant	not specified [RCV004074080]	Chr2:233693437 [GRCh38] Chr2:234602083 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019075.4(UGT1A10):c.691G>A (p.Ala231Thr)	single nucleotide variant	not specified [RCV004139672]	Chr2:233637213 [GRCh38] Chr2:234545859 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019078.2(UGT1A5):c.13C>A (p.Leu5Ile)	single nucleotide variant	not specified [RCV004083169]	Chr2:233713004 [GRCh38] Chr2:234621650 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019077.3(UGT1A7):c.364T>C (p.Ser122Pro)	single nucleotide variant	not specified [RCV004103455]	Chr2:233682301 [GRCh38] Chr2:234590947 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1388A>T (p.Glu463Val)	single nucleotide variant	UGT1A1-related condition [RCV003900879]\|not provided [RCV002664287]	Chr2:233772345 [GRCh38] Chr2:234680991 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.454G>A (p.Ala152Thr)	single nucleotide variant	not specified [RCV004110310]	Chr2:233693458 [GRCh38] Chr2:234602104 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.673G>A (p.Val225Met)	single nucleotide variant	Inborn genetic diseases [RCV002696837]\|not provided [RCV003140153]	Chr2:233760960 [GRCh38] Chr2:234669606 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.293A>G (p.His98Arg)	single nucleotide variant	not specified [RCV004209722]	Chr2:233693297 [GRCh38] Chr2:234601943 [GRCh37] Chr2:2q37.1	uncertain significance
NM_021027.3(UGT1A9):c.662A>G (p.His221Arg)	single nucleotide variant	not specified [RCV004129405]	Chr2:233672596 [GRCh38] Chr2:234581242 [GRCh37] Chr2:2q37.1	uncertain significance
NM_021027.3(UGT1A9):c.70G>A (p.Glu24Lys)	single nucleotide variant	not specified [RCV004106602]	Chr2:233672004 [GRCh38] Chr2:234580650 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019076.5(UGT1A8):c.821G>C (p.Gly274Ala)	single nucleotide variant	not specified [RCV004204671]	Chr2:233618528 [GRCh38] Chr2:234527174 [GRCh37] Chr2:2q37.1	uncertain significance
NM_007120.3(UGT1A4):c.53T>A (p.Leu18His)	single nucleotide variant	not specified [RCV004206804]	Chr2:233718873 [GRCh38] Chr2:234627519 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019077.3(UGT1A7):c.636G>T (p.Met212Ile)	single nucleotide variant	not specified [RCV004130799]	Chr2:233682573 [GRCh38] Chr2:234591219 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1024C>T (p.Pro342Ser)	single nucleotide variant	not provided [RCV003083138]	Chr2:233767876 [GRCh38] Chr2:234676522 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019077.3(UGT1A7):c.602T>A (p.Met201Lys)	single nucleotide variant	not specified [RCV004195831]	Chr2:233682539 [GRCh38] Chr2:234591185 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019093.4(UGT1A3):c.850A>G (p.Arg284Gly)	single nucleotide variant	not specified [RCV004202787]	Chr2:233729976 [GRCh38] Chr2:234638622 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.862-6792A>G	single nucleotide variant	UGT1A1-related condition [RCV003961062]\|not provided [RCV002574794]	Chr2:233760242 [GRCh38] Chr2:234668888 [GRCh37] Chr2:2q37.1	benign\|likely benign
NM_001072.4(UGT1A6):c.371T>A (p.Ile124Asn)	single nucleotide variant	not specified [RCV004241371]	Chr2:233693375 [GRCh38] Chr2:234602021 [GRCh37] Chr2:2q37.1	uncertain significance
NM_021027.3(UGT1A9):c.397T>A (p.Leu133Ile)	single nucleotide variant	not specified [RCV004103519]	Chr2:233672331 [GRCh38] Chr2:234580977 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.530C>G (p.Ser177Cys)	single nucleotide variant	not specified [RCV004176386]	Chr2:233693534 [GRCh38] Chr2:234602180 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1581C>A (p.Ala527=)	single nucleotide variant	not provided [RCV003065690]	Chr2:233772538 [GRCh38] Chr2:234681184 [GRCh37] Chr2:2q37.1	likely benign
NM_019093.4(UGT1A3):c.298T>C (p.Tyr100His)	single nucleotide variant	not specified [RCV004173161]	Chr2:233729424 [GRCh38] Chr2:234638070 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.615del (p.Phe206fs)	deletion	UGT1A1-related condition [RCV003900878]\|not provided [RCV002651625]	Chr2:233760901 [GRCh38] Chr2:234669547 [GRCh37] Chr2:2q37.1	pathogenic
NM_019075.4(UGT1A10):c.634G>C (p.Val212Leu)	single nucleotide variant	not specified [RCV004115967]	Chr2:233637156 [GRCh38] Chr2:234545802 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.623G>A (p.Arg208Gln)	single nucleotide variant	not specified [RCV004215840]	Chr2:233693627 [GRCh38] Chr2:234602273 [GRCh37] Chr2:2q37.1	uncertain significance
NM_021027.3(UGT1A9):c.463T>G (p.Leu155Val)	single nucleotide variant	not specified [RCV004169907]	Chr2:233672397 [GRCh38] Chr2:234581043 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019075.4(UGT1A10):c.28G>A (p.Val10Ile)	single nucleotide variant	not specified [RCV004072530]	Chr2:233636550 [GRCh38] Chr2:234545196 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019076.5(UGT1A8):c.491C>T (p.Pro164Leu)	single nucleotide variant	not specified [RCV004110373]	Chr2:233618198 [GRCh38] Chr2:234526844 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019077.3(UGT1A7):c.68C>A (p.Ala23Asp)	single nucleotide variant	not specified [RCV004137277]	Chr2:233682005 [GRCh38] Chr2:234590651 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019093.4(UGT1A3):c.275A>T (p.His92Leu)	single nucleotide variant	not specified [RCV004120453]	Chr2:233729401 [GRCh38] Chr2:234638047 [GRCh37] Chr2:2q37.1	likely benign
NM_019077.3(UGT1A7):c.676A>G (p.Asn226Asp)	single nucleotide variant	not specified [RCV004080430]	Chr2:233682613 [GRCh38] Chr2:234591259 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1084+12G>A	single nucleotide variant	not provided [RCV002583459]	Chr2:233767948 [GRCh38] Chr2:234676594 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.1112C>T (p.Thr371Ile)	single nucleotide variant	not provided [RCV003072789]	Chr2:233768247 [GRCh38] Chr2:234676893 [GRCh37] Chr2:2q37.1	uncertain significance
NM_007120.3(UGT1A4):c.32G>A (p.Arg11Gln)	single nucleotide variant	not specified [RCV004263193]	Chr2:233718852 [GRCh38] Chr2:234627498 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.793C>T (p.Pro265Ser)	single nucleotide variant	Inborn genetic diseases [RCV003212869]	Chr2:233761080 [GRCh38] Chr2:234669726 [GRCh37] Chr2:2q37.1	uncertain significance
NM_021027.3(UGT1A9):c.524A>G (p.His175Arg)	single nucleotide variant	not specified [RCV004248071]	Chr2:233672458 [GRCh38] Chr2:234581104 [GRCh37] Chr2:2q37.1	uncertain significance
NM_007120.3(UGT1A4):c.334A>G (p.Arg112Gly)	single nucleotide variant	not specified [RCV004261078]	Chr2:233719154 [GRCh38] Chr2:234627800 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019077.3(UGT1A7):c.467T>C (p.Ile156Thr)	single nucleotide variant	not specified [RCV004258533]	Chr2:233682404 [GRCh38] Chr2:234591050 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019078.2(UGT1A5):c.160A>G (p.Arg54Gly)	single nucleotide variant	not specified [RCV004285290]	Chr2:233713151 [GRCh38] Chr2:234621797 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019077.3(UGT1A7):c.476A>G (p.Lys159Arg)	single nucleotide variant	not specified [RCV004252866]	Chr2:233682413 [GRCh38] Chr2:234591059 [GRCh37] Chr2:2q37.1	uncertain significance
NM_021027.3(UGT1A9):c.377G>A (p.Ser126Asn)	single nucleotide variant	not specified [RCV004248700]	Chr2:233672311 [GRCh38] Chr2:234580957 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.300del (p.Phe100fs)	deletion	not provided [RCV003133071]	Chr2:233760583 [GRCh38] Chr2:234669229 [GRCh37] Chr2:2q37.1	likely pathogenic
NM_007120.3(UGT1A4):c.274G>A (p.Val92Ile)	single nucleotide variant	not specified [RCV004254806]	Chr2:233719094 [GRCh38] Chr2:234627740 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019076.5(UGT1A8):c.304G>A (p.Val102Ile)	single nucleotide variant	not specified [RCV004251464]	Chr2:233618011 [GRCh38] Chr2:234526657 [GRCh37] Chr2:2q37.1	likely benign
NM_019093.4(UGT1A3):c.235A>T (p.Thr79Ser)	single nucleotide variant	not specified [RCV004275264]	Chr2:233729361 [GRCh38] Chr2:234638007 [GRCh37] Chr2:2q37.1	uncertain significance
NM_007120.3(UGT1A4):c.257A>G (p.Gln86Arg)	single nucleotide variant	not specified [RCV004262930]	Chr2:233719077 [GRCh38] Chr2:234627723 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019076.5(UGT1A8):c.142C>T (p.Leu48Phe)	single nucleotide variant	not specified [RCV004261772]	Chr2:233617849 [GRCh38] Chr2:234526495 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1184G>T (p.Gly395Val)	single nucleotide variant	Crigler-Najjar syndrome [RCV003229499]	Chr2:233768319 [GRCh38] Chr2:234676965 [GRCh37] Chr2:2q37.1	pathogenic
NM_001072.4(UGT1A6):c.517G>A (p.Gly173Ser)	single nucleotide variant	not specified [RCV004280384]	Chr2:233693521 [GRCh38] Chr2:234602167 [GRCh37] Chr2:2q37.1	uncertain significance
NM_007120.3(UGT1A4):c.751T>C (p.Tyr251His)	single nucleotide variant	not specified [RCV004258084]	Chr2:233719571 [GRCh38] Chr2:234628217 [GRCh37] Chr2:2q37.1	likely benign
NM_019076.5(UGT1A8):c.526T>C (p.Tyr176His)	single nucleotide variant	not specified [RCV004273225]	Chr2:233618233 [GRCh38] Chr2:234526879 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.677T>C (p.Val226Ala)	single nucleotide variant	not provided [RCV003139218]	Chr2:233760964 [GRCh38] Chr2:234669610 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.695C>A (p.Thr232Asn)	single nucleotide variant	not provided [RCV003139219]	Chr2:233760982 [GRCh38] Chr2:234669628 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.396_401del (p.His132_Lys134delinsGln)	deletion	not provided [RCV003139220]	Chr2:233760682..233760687 [GRCh38] Chr2:234669328..234669333 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.355G>A (p.Asp119Asn)	single nucleotide variant	not provided [RCV003139221]	Chr2:233760642 [GRCh38] Chr2:234669288 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.387C>G (p.His129Gln)	single nucleotide variant	not provided [RCV003139222]	Chr2:233760674 [GRCh38] Chr2:234669320 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.354G>T (p.Lys118Asn)	single nucleotide variant	not provided [RCV003139223]	Chr2:233760641 [GRCh38] Chr2:234669287 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.164A>G (p.His55Arg)	single nucleotide variant	not provided [RCV003139224]	Chr2:233760451 [GRCh38] Chr2:234669097 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.706G>C (p.Glu236Gln)	single nucleotide variant	not provided [RCV003139225]	Chr2:233760993 [GRCh38] Chr2:234669639 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.286G>A (p.Gly96Arg)	single nucleotide variant	not provided [RCV003139226]	Chr2:233760573 [GRCh38] Chr2:234669219 [GRCh37] Chr2:2q37.1	uncertain significance
NM_007120.3(UGT1A4):c.745G>C (p.Val249Leu)	single nucleotide variant	not specified [RCV004258083]	Chr2:233719565 [GRCh38] Chr2:234628211 [GRCh37] Chr2:2q37.1	likely benign
NM_001072.4(UGT1A6):c.124A>G (p.Met42Val)	single nucleotide variant	not specified [RCV004258011]	Chr2:233693128 [GRCh38] Chr2:234601774 [GRCh37] Chr2:2q37.1	uncertain significance
NM_007120.3(UGT1A4):c.295G>C (p.Gly99Arg)	single nucleotide variant	not specified [RCV004278499]	Chr2:233719115 [GRCh38] Chr2:234627761 [GRCh37] Chr2:2q37.1	uncertain significance
NM_007120.3(UGT1A4):c.348T>G (p.Ile116Met)	single nucleotide variant	not specified [RCV004285216]	Chr2:233719168 [GRCh38] Chr2:234627814 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.206A>G (p.Glu69Gly)	single nucleotide variant	not specified [RCV004268002]	Chr2:233693210 [GRCh38] Chr2:234601856 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1156G>T (p.Val386Phe)	single nucleotide variant	Crigler-Najjar syndrome [RCV003229498]	Chr2:233768291 [GRCh38] Chr2:234676937 [GRCh37] Chr2:2q37.1	pathogenic
NM_019075.4(UGT1A10):c.370T>C (p.Cys124Arg)	single nucleotide variant	not specified [RCV004275194]	Chr2:233636892 [GRCh38] Chr2:234545538 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1469A>C (p.Asp490Ala)	single nucleotide variant	not specified [RCV003324368]	Chr2:233772426 [GRCh38] Chr2:234681072 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019078.2(UGT1A5):c.380C>G (p.Ser127Cys)	single nucleotide variant	not specified [RCV004294645]	Chr2:233713371 [GRCh38] Chr2:234622017 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019093.4(UGT1A3):c.131T>A (p.Met44Lys)	single nucleotide variant	not specified [RCV004316152]	Chr2:233729257 [GRCh38] Chr2:234637903 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019078.2(UGT1A5):c.773G>A (p.Arg258Gln)	single nucleotide variant	not specified [RCV004349637]	Chr2:233713764 [GRCh38] Chr2:234622410 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019076.5(UGT1A8):c.338C>T (p.Ser113Phe)	single nucleotide variant	not specified [RCV004335559]	Chr2:233618045 [GRCh38] Chr2:234526691 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.395A>G (p.His132Arg)	single nucleotide variant	Inborn genetic diseases [RCV003357827]	Chr2:233760682 [GRCh38] Chr2:234669328 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1458C>A (p.Tyr486Ter)	single nucleotide variant	not specified [RCV003331868]	Chr2:233772415 [GRCh38] Chr2:234681061 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.831C>G (p.Ile277Met)	single nucleotide variant	not specified [RCV004357405]	Chr2:233693835 [GRCh38] Chr2:234602481 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019077.3(UGT1A7):c.782A>G (p.Tyr261Cys)	single nucleotide variant	not specified [RCV004339906]	Chr2:233682719 [GRCh38] Chr2:234591365 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019076.5(UGT1A8):c.341A>G (p.Asn114Ser)	single nucleotide variant	not specified [RCV004336877]	Chr2:233618048 [GRCh38] Chr2:234526694 [GRCh37] Chr2:2q37.1	uncertain significance
NM_007120.3(UGT1A4):c.150G>C (p.Glu50Asp)	single nucleotide variant	not provided [RCV003457323]	Chr2:233718970 [GRCh38] Chr2:234627616 [GRCh37] Chr2:2q37.1	likely benign
NM_019093.4(UGT1A3):c.29C>T (p.Pro10Leu)	single nucleotide variant	not specified [RCV004343036]	Chr2:233729155 [GRCh38] Chr2:234637801 [GRCh37] Chr2:2q37.1	uncertain significance
NM_021027.3(UGT1A9):c.224A>G (p.Lys75Arg)	single nucleotide variant	not specified [RCV004337112]	Chr2:233672158 [GRCh38] Chr2:234580804 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019093.4(UGT1A3):c.275A>G (p.His92Arg)	single nucleotide variant	not specified [RCV004351478]	Chr2:233729401 [GRCh38] Chr2:234638047 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.516G>T (p.Leu172Phe)	single nucleotide variant	Inborn genetic diseases [RCV004364837]\|not provided [RCV003481688]	Chr2:233760803 [GRCh38] Chr2:234669449 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019093.4(UGT1A3):c.804A>G (p.Pro268=)	single nucleotide variant	not provided [RCV003440243]	Chr2:233729930 [GRCh38] Chr2:234638576 [GRCh37] Chr2:2q37.1	likely benign
NM_001072.4(UGT1A6):c.862-6787_862-6786insGT	insertion	not provided [RCV003482470]	Chr2:233760246..233760247 [GRCh38] Chr2:234668892..234668893 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.254G>A (p.Arg85Lys)	single nucleotide variant	UGT1A1-related condition [RCV003420918]	Chr2:233760541 [GRCh38] Chr2:234669187 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.418del (p.Leu140fs)	deletion	Crigler-Najjar syndrome, type II [RCV003388672]	Chr2:233760703 [GRCh38] Chr2:234669349 [GRCh37] Chr2:2q37.1	likely pathogenic
NM_000463.3(UGT1A1):c.1405A>C (p.Lys469Gln)	single nucleotide variant	UGT1A1-related condition [RCV003406105]	Chr2:233772362 [GRCh38] Chr2:234681008 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.862-6831_862-6829dup	duplication	UGT1A1-related condition [RCV003427827]	Chr2:233760202..233760203 [GRCh38] Chr2:234668848..234668849 [GRCh37] Chr2:2q37.1	pathogenic
NM_021027.3(UGT1A9):c.98T>C (p.Met33Thr)	single nucleotide variant	not provided [RCV003440240]	Chr2:233672032 [GRCh38] Chr2:234580678 [GRCh37] Chr2:2q37.1	benign
NM_000463.3(UGT1A1):c.1450T>C (p.Tyr484His)	single nucleotide variant	UGT1A1-related condition [RCV003408762]	Chr2:233772407 [GRCh38] Chr2:234681053 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.614C>T (p.Thr205Ile)	single nucleotide variant	UGT1A1-related condition [RCV003412217]	Chr2:233760901 [GRCh38] Chr2:234669547 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.506T>A (p.Val169Glu)	single nucleotide variant	UGT1A1-related condition [RCV003412363]	Chr2:233760793 [GRCh38] Chr2:234669439 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1525T>G (p.Cys509Gly)	single nucleotide variant	UGT1A1-related condition [RCV003392826]	Chr2:233772482 [GRCh38] Chr2:234681128 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.110G>A (p.Gly37Asp)	single nucleotide variant	Crigler-Najjar syndrome, type II [RCV003443186]	Chr2:233760397 [GRCh38] Chr2:234669043 [GRCh37] Chr2:2q37.1	uncertain significance
NM_007120.3(UGT1A4):c.699T>C (p.Ser233=)	single nucleotide variant	not provided [RCV003440242]	Chr2:233719519 [GRCh38] Chr2:234628165 [GRCh37] Chr2:2q37.1	likely benign
NM_019077.3(UGT1A7):c.243C>A (p.Tyr81Ter)	single nucleotide variant	not provided [RCV003491839]	Chr2:233682180 [GRCh38] Chr2:234590826 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019077.3(UGT1A7):c.192G>A (p.Trp64Ter)	single nucleotide variant	not provided [RCV003491837]	Chr2:233682129 [GRCh38] Chr2:234590775 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1319T>A (p.Ile440Asn)	single nucleotide variant	not provided [RCV003880478]	Chr2:233772276 [GRCh38] Chr2:234680922 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.89T>C (p.Ile30Thr)	single nucleotide variant	UGT1A1-related condition [RCV003954225]\|not provided [RCV003491826]	Chr2:233760376 [GRCh38] Chr2:234669022 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.622C>T (p.Arg208Ter)	single nucleotide variant	not provided [RCV003491830]	Chr2:233693626 [GRCh38] Chr2:234602272 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.1242T>A (p.Asn414Lys)	single nucleotide variant	not provided [RCV003691691]	Chr2:233768377 [GRCh38] Chr2:234677023 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.194C>T (p.Ser65Leu)	single nucleotide variant	not provided [RCV003491827]	Chr2:233760481 [GRCh38] Chr2:234669127 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019077.3(UGT1A7):c.760C>T (p.Arg254Ter)	single nucleotide variant	not provided [RCV003491835]	Chr2:233682697 [GRCh38] Chr2:234591343 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019077.3(UGT1A7):c.503del (p.Phe168fs)	deletion	not provided [RCV003491836]	Chr2:233682439 [GRCh38] Chr2:234591085 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.611T>C (p.Met204Thr)	single nucleotide variant	not provided [RCV003491828]	Chr2:233760898 [GRCh38] Chr2:234669544 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.269G>A (p.Arg90His)	single nucleotide variant	not provided [RCV003491829]	Chr2:233693273 [GRCh38] Chr2:234601919 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.263A>G (p.Lys88Arg)	single nucleotide variant	not provided [RCV003491831]	Chr2:233693267 [GRCh38] Chr2:234601913 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.16C>T (p.Arg6Cys)	single nucleotide variant	not provided [RCV003491832]\|not specified [RCV004364896]	Chr2:233693020 [GRCh38] Chr2:234601666 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.61T>C (p.Trp21Arg)	single nucleotide variant	not provided [RCV003491833]	Chr2:233693065 [GRCh38] Chr2:234601711 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.29G>A (p.Arg10Lys)	single nucleotide variant	not provided [RCV003491834]	Chr2:233693033 [GRCh38] Chr2:234601679 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019077.3(UGT1A7):c.817_821dup (p.Ile275fs)	duplication	not provided [RCV003491838]	Chr2:233682753..233682754 [GRCh38] Chr2:234591399..234591400 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019076.5(UGT1A8):c.1299C>T (p.Tyr433=)	single nucleotide variant	not provided [RCV003740549]	Chr2:233772265 [GRCh38] Chr2:234680911 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.1229G>A (p.Gly410Glu)	single nucleotide variant	not provided [RCV003726163]	Chr2:233768364 [GRCh38] Chr2:234677010 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019076.5(UGT1A8):c.1202T>C (p.Met401Thr)	single nucleotide variant	not provided [RCV003740558]	Chr2:233768346 [GRCh38] Chr2:234676992 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.687G>A (p.Pro229=)	single nucleotide variant	not provided [RCV003724409]	Chr2:233760974 [GRCh38] Chr2:234669620 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.1491C>T (p.Ala497=)	single nucleotide variant	not provided [RCV003716954]	Chr2:233772448 [GRCh38] Chr2:234681094 [GRCh37] Chr2:2q37.1	likely benign
NM_019076.5(UGT1A8):c.856-73523C>T	single nucleotide variant	not provided [RCV003736350]	Chr2:233693511 [GRCh38] Chr2:234602157 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.977T>C (p.Leu326Ser)	single nucleotide variant	not provided [RCV003720537]	Chr2:233767146 [GRCh38] Chr2:234675792 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019076.5(UGT1A8):c.1075+20T>G	single nucleotide variant	not provided [RCV003736494]	Chr2:233767956 [GRCh38] Chr2:234676602 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.1590C>T (p.Ser530=)	single nucleotide variant	UGT1A1-related condition [RCV003893339]\|not provided [RCV003730078]	Chr2:233772547 [GRCh38] Chr2:234681193 [GRCh37] Chr2:2q37.1	likely benign
NM_019076.5(UGT1A8):c.855+63716A>G	single nucleotide variant	not provided [RCV003736409]	Chr2:233682278 [GRCh38] Chr2:234590924 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019076.5(UGT1A8):c.855+64228A>G	single nucleotide variant	not provided [RCV003736412]	Chr2:233682790 [GRCh38] Chr2:234591436 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019076.5(UGT1A8):c.855+64104T>C	single nucleotide variant	not provided [RCV003736452]	Chr2:233682666 [GRCh38] Chr2:234591312 [GRCh37] Chr2:2q37.1	likely benign
NM_019076.5(UGT1A8):c.1502T>A (p.Phe501Tyr)	single nucleotide variant	not provided [RCV003736465]	Chr2:233772468 [GRCh38] Chr2:234681114 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.110G>T (p.Gly37Val)	single nucleotide variant	not provided [RCV003555021]	Chr2:233760397 [GRCh38] Chr2:234669043 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.118T>C (p.Trp40Arg)	single nucleotide variant	not provided [RCV003555022]	Chr2:233760405 [GRCh38] Chr2:234669051 [GRCh37] Chr2:2q37.1	uncertain significance
NM_021027.3(UGT1A9):c.196C>T (p.Leu66=)	single nucleotide variant	UGT1A9-related condition [RCV003976591]	Chr2:233672130 [GRCh38] Chr2:234580776 [GRCh37] Chr2:2q37.1	benign
NM_000463.3(UGT1A1):c.1038G>A (p.Ala346=)	single nucleotide variant	UGT1A1-related condition [RCV003893608]	Chr2:233767890 [GRCh38] Chr2:234676536 [GRCh37] Chr2:2q37.1	likely benign
NM_001072.4(UGT1A6):c.862-8101C>T	single nucleotide variant	UGT1A1-related condition [RCV003893762]	Chr2:233758933 [GRCh38] Chr2:234667579 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.78T>C (p.His26=)	single nucleotide variant	UGT1A1-related condition [RCV003894517]	Chr2:233760365 [GRCh38] Chr2:234669011 [GRCh37] Chr2:2q37.1	likely benign
NM_021027.3(UGT1A9):c.432A>G (p.Ala144=)	single nucleotide variant	UGT1A9-related condition [RCV003922299]	Chr2:233672366 [GRCh38] Chr2:234581012 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.1216_1225del (p.Thr406fs)	deletion	Crigler-Najjar syndrome type 1 [RCV003989472]	Chr2:233768347..233768356 [GRCh38] Chr2:234676993..234677002 [GRCh37] Chr2:2q37.1	pathogenic
NM_021027.3(UGT1A9):c.918A>G (p.Ser306=)	single nucleotide variant	UGT1A9-related condition [RCV003896894]	Chr2:233767096 [GRCh38] Chr2:234675742 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.125G>A (p.Ser42Asn)	single nucleotide variant	UGT1A1-related condition [RCV003924215]	Chr2:233760412 [GRCh38] Chr2:234669058 [GRCh37] Chr2:2q37.1	uncertain significance
NM_000463.3(UGT1A1):c.21C>T (p.Gly7=)	single nucleotide variant	UGT1A1-related condition [RCV003969654]	Chr2:233760308 [GRCh38] Chr2:234668954 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.1353G>A (p.Pro451=)	single nucleotide variant	UGT1A1-related condition [RCV003902322]	Chr2:233772310 [GRCh38] Chr2:234680956 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.1047G>A (p.Thr349=)	single nucleotide variant	UGT1A1-related condition [RCV003962210]	Chr2:233767899 [GRCh38] Chr2:234676545 [GRCh37] Chr2:2q37.1	likely benign
NM_021027.3(UGT1A9):c.417G>A (p.Glu139=)	single nucleotide variant	UGT1A9-related condition [RCV003901985]	Chr2:233672351 [GRCh38] Chr2:234580997 [GRCh37] Chr2:2q37.1	likely benign
NM_007120.3(UGT1A4):c.1425G>A (p.Leu475=)	single nucleotide variant	UGT1A4-related condition [RCV003924475]	Chr2:233772379 [GRCh38] Chr2:234681025 [GRCh37] Chr2:2q37.1	likely benign
NM_021027.3(UGT1A9):c.500T>C (p.Val167Ala)	single nucleotide variant	UGT1A9-related condition [RCV003943843]	Chr2:233672434 [GRCh38] Chr2:234581080 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.864+10G>A	single nucleotide variant	UGT1A1-related condition [RCV003969588]	Chr2:233761161 [GRCh38] Chr2:234669807 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.196T>C (p.Leu66=)	single nucleotide variant	UGT1A1-related condition [RCV003899182]	Chr2:233760483 [GRCh38] Chr2:234669129 [GRCh37] Chr2:2q37.1	likely benign
NM_000463.3(UGT1A1):c.45G>C (p.Leu15=)	single nucleotide variant	UGT1A1-related condition [RCV003901791]	Chr2:233760332 [GRCh38] Chr2:234668978 [GRCh37] Chr2:2q37.1	likely benign
NM_001072.4(UGT1A6):c.862-10037A>G	single nucleotide variant	UGT1A1-related condition [RCV003974278]	Chr2:233756997 [GRCh38] Chr2:234665643 [GRCh37] Chr2:2q37.1	likely benign
NM_021027.3(UGT1A9):c.423T>G (p.Ser141=)	single nucleotide variant	UGT1A9-related condition [RCV003917374]	Chr2:233672357 [GRCh38] Chr2:234581003 [GRCh37] Chr2:2q37.1	likely benign
NM_019093.4(UGT1A3):c.396A>G (p.Leu132=)	single nucleotide variant	not provided [RCV003886216]	Chr2:233729522 [GRCh38] Chr2:234638168 [GRCh37] Chr2:2q37.1	likely benign
NM_021027.3(UGT1A9):c.773T>C (p.Val258Ala)	single nucleotide variant	not specified [RCV004479537]	Chr2:233672707 [GRCh38] Chr2:234581353 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019093.4(UGT1A3):c.827T>C (p.Ile276Thr)	single nucleotide variant	not specified [RCV004340854]	Chr2:233729953 [GRCh38] Chr2:234638599 [GRCh37] Chr2:2q37.1	uncertain significance
NM_021027.3(UGT1A9):c.512G>T (p.Gly171Val)	single nucleotide variant	not specified [RCV004348438]	Chr2:233672446 [GRCh38] Chr2:234581092 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019078.2(UGT1A5):c.23C>T (p.Pro8Leu)	single nucleotide variant	not specified [RCV004358967]	Chr2:233713014 [GRCh38] Chr2:234621660 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019076.5(UGT1A8):c.262C>T (p.Arg88Trp)	single nucleotide variant	not specified [RCV004352299]	Chr2:233617969 [GRCh38] Chr2:234526615 [GRCh37] Chr2:2q37.1	uncertain significance
NM_007120.3(UGT1A4):c.42A>G (p.Thr14=)	single nucleotide variant	not provided [RCV003440241]	Chr2:233718862 [GRCh38] Chr2:234627508 [GRCh37] Chr2:2q37.1	likely benign
NM_021027.3(UGT1A9):c.553G>A (p.Ala185Thr)	single nucleotide variant	not specified [RCV004479534]	Chr2:233672487 [GRCh38] Chr2:234581133 [GRCh37] Chr2:2q37.1	uncertain significance
NM_021027.3(UGT1A9):c.680C>T (p.Ala227Val)	single nucleotide variant	not specified [RCV004479535]	Chr2:233672614 [GRCh38] Chr2:234581260 [GRCh37] Chr2:2q37.1	uncertain significance
NM_021027.3(UGT1A9):c.764C>T (p.Thr255Met)	single nucleotide variant	not specified [RCV004479536]	Chr2:233672698 [GRCh38] Chr2:234581344 [GRCh37] Chr2:2q37.1	uncertain significance
NM_007120.3(UGT1A4):c.460G>T (p.Val154Phe)	single nucleotide variant	not specified [RCV004479501]	Chr2:233719280 [GRCh38] Chr2:234627926 [GRCh37] Chr2:2q37.1	uncertain significance
NM_007120.3(UGT1A4):c.65T>C (p.Val22Ala)	single nucleotide variant	not specified [RCV004479502]	Chr2:233718885 [GRCh38] Chr2:234627531 [GRCh37] Chr2:2q37.1	uncertain significance
NM_007120.3(UGT1A4):c.711G>C (p.Glu237Asp)	single nucleotide variant	not specified [RCV004479503]	Chr2:233719531 [GRCh38] Chr2:234628177 [GRCh37] Chr2:2q37.1	uncertain significance
NM_007120.3(UGT1A4):c.803C>T (p.Pro268Leu)	single nucleotide variant	not specified [RCV004479504]	Chr2:233719623 [GRCh38] Chr2:234628269 [GRCh37] Chr2:2q37.1	uncertain significance
NM_007120.3(UGT1A4):c.862T>C (p.Ser288Pro)	single nucleotide variant	not specified [RCV004479505]	Chr2:233719682 [GRCh38] Chr2:234628328 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019078.2(UGT1A5):c.400A>G (p.Asn134Asp)	single nucleotide variant	not specified [RCV004479507]	Chr2:233713391 [GRCh38] Chr2:234622037 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.130G>C (p.Asp44His)	single nucleotide variant	not specified [RCV004479508]	Chr2:233693134 [GRCh38] Chr2:234601780 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.713A>G (p.Lys238Arg)	single nucleotide variant	not specified [RCV004479510]	Chr2:233693717 [GRCh38] Chr2:234602363 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.731T>A (p.Ile244Asn)	single nucleotide variant	not specified [RCV004479511]	Chr2:233693735 [GRCh38] Chr2:234602381 [GRCh37] Chr2:2q37.1	uncertain significance
NM_001072.4(UGT1A6):c.85C>A (p.Leu29Met)	single nucleotide variant	not specified [RCV004479513]	Chr2:233693089 [GRCh38] Chr2:234601735 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019077.3(UGT1A7):c.104G>A (p.Gly35Glu)	single nucleotide variant	not specified [RCV004479514]	Chr2:233682041 [GRCh38] Chr2:234590687 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019077.3(UGT1A7):c.274G>A (p.Val92Ile)	single nucleotide variant	not specified [RCV004479515]	Chr2:233682211 [GRCh38] Chr2:234590857 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019077.3(UGT1A7):c.475A>G (p.Lys159Glu)	single nucleotide variant	not specified [RCV004479516]	Chr2:233682412 [GRCh38] Chr2:234591058 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019077.3(UGT1A7):c.514A>G (p.Ile172Val)	single nucleotide variant	not specified [RCV004479517]	Chr2:233682451 [GRCh38] Chr2:234591097 [GRCh37] Chr2:2q37.1	likely benign
NM_019077.3(UGT1A7):c.553G>A (p.Ala185Thr)	single nucleotide variant	not specified [RCV004479518]	Chr2:233682490 [GRCh38] Chr2:234591136 [GRCh37] Chr2:2q37.1	uncertain significance
NM_021027.3(UGT1A9):c.128C>T (p.Ser43Leu)	single nucleotide variant	not specified [RCV004479531]	Chr2:233672062 [GRCh38] Chr2:234580708 [GRCh37] Chr2:2q37.1	uncertain significance
NM_021027.3(UGT1A9):c.185T>C (p.Val62Ala)	single nucleotide variant	not specified [RCV004479532]	Chr2:233672119 [GRCh38] Chr2:234580765 [GRCh37] Chr2:2q37.1	uncertain significance
NM_021027.3(UGT1A9):c.429T>G (p.Asp143Glu)	single nucleotide variant	not specified [RCV004479533]	Chr2:233672363 [GRCh38] Chr2:234581009 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019075.4(UGT1A10):c.158A>T (p.His53Leu)	single nucleotide variant	not specified [RCV004479491]	Chr2:233636680 [GRCh38] Chr2:234545326 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019075.4(UGT1A10):c.350T>C (p.Leu117Pro)	single nucleotide variant	not specified [RCV004479492]	Chr2:233636872 [GRCh38] Chr2:234545518 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019075.4(UGT1A10):c.713C>T (p.Pro238Leu)	single nucleotide variant	not specified [RCV004479493]	Chr2:233637235 [GRCh38] Chr2:234545881 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019075.4(UGT1A10):c.793G>A (p.Val265Met)	single nucleotide variant	not specified [RCV004479494]	Chr2:233637315 [GRCh38] Chr2:234545961 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019075.4(UGT1A10):c.829T>C (p.Cys277Arg)	single nucleotide variant	not specified [RCV004479495]	Chr2:233637351 [GRCh38] Chr2:234545997 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019093.4(UGT1A3):c.338G>C (p.Ser113Thr)	single nucleotide variant	not specified [RCV004479496]	Chr2:233729464 [GRCh38] Chr2:234638110 [GRCh37] Chr2:2q37.1	likely benign
NM_019077.3(UGT1A7):c.644A>G (p.Glu215Gly)	single nucleotide variant	not specified [RCV004479519]	Chr2:233682581 [GRCh38] Chr2:234591227 [GRCh37] Chr2:2q37.1	uncertain significance
NM_007120.3(UGT1A4):c.157G>T (p.Ala53Ser)	single nucleotide variant	not specified [RCV004479497]	Chr2:233718977 [GRCh38] Chr2:234627623 [GRCh37] Chr2:2q37.1	uncertain significance
NM_007120.3(UGT1A4):c.167A>G (p.His56Arg)	single nucleotide variant	not specified [RCV004479498]	Chr2:233718987 [GRCh38] Chr2:234627633 [GRCh37] Chr2:2q37.1	uncertain significance
NM_007120.3(UGT1A4):c.44G>T (p.Gly15Val)	single nucleotide variant	not specified [RCV004479499]	Chr2:233718864 [GRCh38] Chr2:234627510 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019077.3(UGT1A7):c.780G>C (p.Glu260Asp)	single nucleotide variant	not specified [RCV004479520]	Chr2:233682717 [GRCh38] Chr2:234591363 [GRCh37] Chr2:2q37.1	likely benign
NM_019077.3(UGT1A7):c.820G>A (p.Gly274Ser)	single nucleotide variant	not specified [RCV004479521]	Chr2:233682757 [GRCh38] Chr2:234591403 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019076.5(UGT1A8):c.260A>T (p.Asp87Val)	single nucleotide variant	not specified [RCV004479522]	Chr2:233617967 [GRCh38] Chr2:234526613 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019076.5(UGT1A8):c.280G>A (p.Ala94Thr)	single nucleotide variant	not specified [RCV004479523]	Chr2:233617987 [GRCh38] Chr2:234526633 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019076.5(UGT1A8):c.294G>C (p.Trp98Cys)	single nucleotide variant	not specified [RCV004479524]	Chr2:233618001 [GRCh38] Chr2:234526647 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019076.5(UGT1A8):c.359T>C (p.Phe120Ser)	single nucleotide variant	not specified [RCV004479525]	Chr2:233618066 [GRCh38] Chr2:234526712 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019076.5(UGT1A8):c.613G>A (p.Glu205Lys)	single nucleotide variant	not specified [RCV004479526]	Chr2:233618320 [GRCh38] Chr2:234526966 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019076.5(UGT1A8):c.623G>A (p.Arg208Gln)	single nucleotide variant	not specified [RCV004479527]	Chr2:233618330 [GRCh38] Chr2:234526976 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019076.5(UGT1A8):c.756G>T (p.Leu252Phe)	single nucleotide variant	not specified [RCV004479528]	Chr2:233618463 [GRCh38] Chr2:234527109 [GRCh37] Chr2:2q37.1	uncertain significance
NM_019076.5(UGT1A8):c.780C>G (p.Asp260Glu)	single nucleotide variant	not specified [RCV004479529]	Chr2:233618487 [GRCh38] Chr2:234527133 [GRCh37] Chr2:2q37.1	uncertain significance
NM_021027.3(UGT1A9):c.101A>G (p.Asp34Gly)	single nucleotide variant	not specified [RCV004479530]	Chr2:233672035 [GRCh38] Chr2:234580681 [GRCh37] Chr2:2q37.1	uncertain significance

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_002601	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC006985	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC019072	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC114812	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF313454	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY728001	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY728002	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY728003	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY728004	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY728005	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY728006	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY728007	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY728008	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY728009	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY728010	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY728011	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY728012	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068276	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ408601	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ408602	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Additional Information

External Database Links

Database	Acc Id	Source(s)
COSMIC	UGT1A	COSMIC
GTEx	UGT1A	GTEx
HGNC ID	HGNC:12529	ENTREZGENE
Human Proteome Map	UGT1A	Human Proteome Map
NCBI Gene	UGT1A	ENTREZGENE
PharmGKB	PA37173	PharmGKB, RGD

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-04-12	UGT1A	UDP glucuronosyltransferase family 1 member A complex locus	UGT1A@	UDP glycosyltransferase 1 family, polypeptide A1	Symbol and/or name change	5135510	APPROVED

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Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

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Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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