ClinVar for MedGen (Select 1789261) - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2502841	NM_000463.3(UGT1A1):c.1184G>T (p.Gly395Val)	UGT1A, UGT1A1 +8 more (G127V +4 more)	Single nucleotide variant (missense variant)	Crigler-Najjar syndrome	GPathogenic
Select item 2502840	NM_000463.3(UGT1A1):c.1156G>T (p.Val386Phe)	UGT1A, UGT1A1 +8 more (V118F +4 more)	Single nucleotide variant (missense variant)	Crigler-Najjar syndrome	GPathogenic
Select item 898686	NM_000463.3(UGT1A1):c.*419T>C	UGT1A, UGT1A1 +8 more	Single nucleotide variant (3 prime UTR variant)	Lucey-Driscoll syndrome +2 more	GConflicting classifications of pathogenicity
Select item 898626	NM_000463.3(UGT1A1):c.*84T>C	UGT1A, UGT1A1 +8 more	Single nucleotide variant (3 prime UTR variant)	Lucey-Driscoll syndrome +2 more	GUncertain significance
Select item 898625	NM_000463.3(UGT1A1):c.1548A>T (p.Lys516Asn)	UGT1A, UGT1A1 +8 more (K515N +4 more)	Single nucleotide variant (missense variant)	Crigler-Najjar syndrome +3 more	GUncertain significance
Select item 897537	NM_000463.3(UGT1A1):c.*301G>A	UGT1A8, UGT1A +8 more	Single nucleotide variant (3 prime UTR variant)	Lucey-Driscoll syndrome +2 more	GUncertain significance
Select item 897468	NM_000463.3(UGT1A1):c.1518C>A (p.Thr506=)	UGT1A10, UGT1A3 +8 more	Single nucleotide variant (synonymous variant)	Crigler-Najjar syndrome +2 more	GUncertain significance
Select item 897467	NM_000463.3(UGT1A1):c.1411G>A (p.Ala471Thr)	UGT1A, UGT1A1 +8 more (A468T +4 more)	Single nucleotide variant (missense variant)	Crigler-Najjar syndrome +2 more	GUncertain significance
Select item 897407	NM_000463.3(UGT1A1):c.584G>A (p.Arg195Lys)	UGT1A, UGT1A1 +8 more (R195K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 897334	NM_000463.3(UGT1A1):c.288G>A (p.Gly96=)	UGT1A8, UGT1A5 +8 more	Single nucleotide variant (synonymous variant +1 more)	Lucey-Driscoll syndrome +2 more	GUncertain significance
Select item 897054	NM_000463.3(UGT1A1):c.*269C>T	UGT1A, UGT1A1 +8 more	Single nucleotide variant (3 prime UTR variant)	Lucey-Driscoll syndrome +2 more	GUncertain significance
Select item 896983	NM_000463.3(UGT1A1):c.1410C>T (p.Gly470=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant)	Lucey-Driscoll syndrome +2 more	GUncertain significance
Select item 895991	NM_000463.3(UGT1A1):c.*674G>A	UGT1A8, UGT1A9 +8 more	Single nucleotide variant (3 prime UTR variant)	Lucey-Driscoll syndrome +2 more	GUncertain significance
Select item 895706	NM_000463.3(UGT1A1):c.*461G>T	UGT1A, UGT1A1 +8 more	Single nucleotide variant (3 prime UTR variant)	Gilbert syndrome +2 more	GUncertain significance
Select item 895639	NM_000463.3(UGT1A1):c.*188T>G	UGT1A, UGT1A1 +8 more	Single nucleotide variant (3 prime UTR variant)	Gilbert syndrome +2 more	GUncertain significance
Select item 895638	NM_000463.3(UGT1A1):c.*133G>A	UGT1A, UGT1A1 +8 more	Single nucleotide variant (3 prime UTR variant)	Gilbert syndrome +2 more	GUncertain significance
Select item 895576	NM_000463.3(UGT1A1):c.1180T>C (p.Phe394Leu)	UGT1A10, UGT1A3 +8 more (F126L +4 more)	Single nucleotide variant (missense variant)	Lucey-Driscoll syndrome +2 more	GUncertain significance
Select item 895502	NM_000463.3(UGT1A1):c.361G>C (p.Ala121Pro)	UGT1A, UGT1A1 +8 more (A121P)	Single nucleotide variant (missense variant +1 more)	Lucey-Driscoll syndrome +2 more	GUncertain significance
Select item 895439	NM_000463.3(UGT1A1):c.25C>T (p.Arg9Cys)	UGT1A, UGT1A1 +8 more (R9C)	Single nucleotide variant (missense variant +1 more)	Lucey-Driscoll syndrome +2 more	GUncertain significance
Select item 724578	NM_000463.3(UGT1A1):c.964A>G (p.Ile322Val)	UGT1A, UGT1A1 +8 more (I322V +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 597578	NM_000463.3(UGT1A1):c.142C>G (p.Gln48Glu)	UGT1A, UGT1A1 +8 more (Q48E)	Single nucleotide variant (missense variant +1 more)	Lucey-Driscoll syndrome +3 more	GUncertain significance
Select item 596451	NM_000463.3(UGT1A1):c.167A>C (p.Glu56Ala)	UGT1A6, UGT1A5 +8 more (E56A)	Single nucleotide variant (missense variant +1 more)	Gilbert syndrome +3 more	GUncertain significance
Select item 595180	NM_000463.3(UGT1A1):c.838T>G (p.Cys280Gly)	UGT1A, UGT1A1 +8 more (C280G)	Single nucleotide variant (missense variant +1 more)	Lucey-Driscoll syndrome +3 more	GUncertain significance
Select item 594558	NM_000463.3(UGT1A1):c.386A>G (p.His129Arg)	UGT1A1, UGT1A10 +8 more (H129R)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 548505	NM_000463.3(UGT1A1):c.1567C>T (p.Arg523Ter)	UGT1A, UGT1A1 +8 more (R255* +4 more)	Single nucleotide variant (nonsense)	Crigler-Najjar syndrome +1 more	GUncertain significance
Select item 500144	NM_000463.3(UGT1A1):c.189C>T (p.Asp63=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	Gilbert syndrome +3 more	GConflicting classifications of pathogenicity
Select item 437450	NM_000463.3(UGT1A1):c.1006C>T (p.Arg336Trp)	UGT1A1, UGT1A10 +8 more (R336W +4 more)	Single nucleotide variant (missense variant)	Crigler-Najjar syndrome +1 more	GPathogenic
Select item 437211	NM_000463.3(UGT1A1):c.625C>T (p.Arg209Trp)	UGT1A, UGT1A1 +8 more (R209W)	Single nucleotide variant (missense variant +1 more)	Crigler-Najjar syndrome, type II +4 more	GPathogenic/Likely pathogenic
Select item 437210	NM_000463.3(UGT1A1):c.222C>A (p.Tyr74Ter)	UGT1A, UGT1A1 +8 more (Y74*)	Single nucleotide variant (nonsense +1 more)	Crigler-Najjar syndrome +1 more	GPathogenic
Select item 437209	NM_000463.3(UGT1A1):c.622_625dup (p.Arg209fs)	UGT1A, UGT1A1 +8 more (R209fs)	Duplication (frameshift variant +1 more)	Crigler-Najjar syndrome +1 more	GPathogenic
Select item 437208	NM_000463.3(UGT1A1):c.609_632del (p.His203_Lys211delinsGln)	UGT1A, UGT1A1 +8 more	Deletion (inframe_indel +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 335087	NM_000463.3(UGT1A1):c.*585G>T	UGT1A, UGT1A1 +8 more	Single nucleotide variant (3 prime UTR variant)	Crigler-Najjar syndrome +2 more	GUncertain significance
Select item 335086	NM_000463.3(UGT1A1):c.*440G>C	UGT1A, UGT1A1 +8 more	Single nucleotide variant (3 prime UTR variant)	Crigler-Najjar syndrome +2 more	GBenign/Likely benign
Select item 335085	NM_000463.3(UGT1A1):c.*339G>C	UGT1A3, UGT1A4 +8 more	Single nucleotide variant (3 prime UTR variant)	Gilbert syndrome +2 more	GBenign/Likely benign
Select item 335084	NM_000463.3(UGT1A1):c.*211T>C	UGT1A4, UGT1A5 +8 more	Single nucleotide variant (3 prime UTR variant)	Crigler-Najjar syndrome +3 more	GBenign/Likely benign
Select item 335083	NM_000463.3(UGT1A1):c.*201G>A	UGT1A, UGT1A1 +8 more	Single nucleotide variant (3 prime UTR variant)	Crigler-Najjar syndrome +2 more	GUncertain significance
Select item 335082	NM_000463.3(UGT1A1):c.1322T>C (p.Met441Thr)	UGT1A6, UGT1A7 +8 more (M441T +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 335081	NM_000463.3(UGT1A1):c.477C>T (p.Ile159=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	Crigler-Najjar syndrome +3 more	GConflicting classifications of pathogenicity
Select item 335080	NM_000463.3(UGT1A1):c.300T>C (p.Phe100=)	UGT1A6, UGT1A7 +8 more	Single nucleotide variant (synonymous variant +1 more)	Crigler-Najjar syndrome +3 more	GUncertain significance
Select item 335079	NM_000463.3(UGT1A1):c.294T>C (p.Asn98=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 290430	NM_000463.3(UGT1A1):c.577G>A (p.Val193Met)	UGT1A3, UGT1A +8 more (V193M)	Single nucleotide variant (missense variant +1 more)	Lucey-Driscoll syndrome +4 more	GUncertain significance
Select item 289882	NM_000463.3(UGT1A1):c.326T>C (p.Val109Ala)	UGT1A, UGT1A1 +8 more (V109A)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 289602	NM_000463.3(UGT1A1):c.540A>G (p.Glu180=)	UGT1A4, UGT1A5 +8 more	Single nucleotide variant (synonymous variant +1 more)	Gilbert syndrome +4 more	GConflicting classifications of pathogenicity
Select item 286999	NM_000463.3(UGT1A1):c.1324C>T (p.Arg442Cys)	UGT1A9, UGT1A +8 more (R442C +4 more)	Single nucleotide variant (missense variant)	Lucey-Driscoll syndrome +6 more	GUncertain significance
Select item 197147	NM_000463.3(UGT1A1):c.1122T>C (p.Gly374=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant)	Gilbert syndrome +3 more	GConflicting classifications of pathogenicity
Select item 160241	NM_000463.3(UGT1A1):c.996+15T>C	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	Hyperbilirubinemia +4 more	GConflicting classifications of pathogenicity
Select item 160240	NM_000463.3(UGT1A1):c.748T>C (p.Ser250Pro)	UGT1A10, UGT1A3 +8 more (S250P)	Single nucleotide variant (missense variant +1 more)	Crigler-Najjar syndrome +4 more	GUncertain significance
Select item 160239	NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly)	UGT1A7, UGT1A8 +8 more (V225G)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity; other
Select item 160235	NM_000463.3(UGT1A1):c.1428C>T (p.Pro476=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 160234	NM_000463.3(UGT1A1):c.141C>T (p.Ile47=)	UGT1A5, UGT1A6 +8 more	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 12267	NM_000463.3(UGT1A1):c.1124C>T (p.Ser375Phe)	UGT1A10, UGT1A3 +8 more (S376F +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic

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Items: 51