"Genetic Services Laboratory, University of Chicago"[submitter] AND "U - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12275	UGT1A1*28	UGT1A, UGT1A1 +8 more	Microsatellite (intron variant)	Crigler-Najjar syndrome, type II +4 more	GConflicting classifications of pathogenicity; drug response; other
Select item 437206	NM_000463.3(UGT1A1):c.72G>A (p.Val24=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GLikely benign
Select item 160234	NM_000463.3(UGT1A1):c.141C>T (p.Ile47=)	UGT1A9, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 160233	NM_000463.3(UGT1A1):c.141C>A (p.Ile47=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	Hyperbilirubinemia	GUncertain significance
Select item 12280	UGT1A1*6	UGT1A, UGT1A1 +8 more (G71R)	Single nucleotide variant (missense variant +1 more)	Crigler-Najjar syndrome, type II +4 more	GConflicting classifications of pathogenicity; drug response
Select item 437210	NM_000463.3(UGT1A1):c.222C>A (p.Tyr74Ter)	UGT1A, UGT1A1 +8 more (Y74*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 212544	NM_000463.3(UGT1A1):c.238_239insGTAC (p.Pro80fs)	UGT1A, UGT1A3 +8 more (P80fs)	Insertion (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 1338452	NM_000463.3(UGT1A1):c.269_270del (p.Glu90fs)	UGT1A, UGT1A1 +8 more (E90fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 160236	NM_000463.3(UGT1A1):c.322C>T (p.Arg108Cys)	UGT1A, UGT1A1 +8 more (R108C)	Single nucleotide variant (missense variant +1 more)	Hyperbilirubinemia +4 more	GUncertain significance
Select item 160237	NM_000463.3(UGT1A1):c.476T>C (p.Ile159Thr)	UGT1A, UGT1A1 +8 more (I159T)	Single nucleotide variant (missense variant +1 more)	Hyperbilirubinemia	GUncertain significance
Select item 160238	NM_000463.3(UGT1A1):c.479T>A (p.Val160Glu)	UGT1A, UGT1A1 +8 more (V160E)	Single nucleotide variant (missense variant +1 more)	Hyperbilirubinemia	GUncertain significance
Select item 1338467	NM_000463.3(UGT1A1):c.530G>A (p.Cys177Tyr)	UGT1A, UGT1A1 +8 more (C177Y)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 289602	NM_000463.3(UGT1A1):c.540A>G (p.Glu180=)	UGT1A10, UGT1A3 +8 more	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1338627	NM_000463.3(UGT1A1):c.573del (p.Tyr192fs)	UGT1A, UGT1A1 +8 more (Y192fs)	Deletion (intron variant +1 more)	not provided	GLikely pathogenic
Select item 437207	NM_000463.3(UGT1A1):c.592T>C (p.Ser198Pro)	UGT1A, UGT1A1 +8 more (S198P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 437208	NM_000463.3(UGT1A1):c.609_632del (p.His203_Lys211delinsGln)	UGT1A1, UGT1A10 +8 more	Deletion (intron variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 437209	NM_000463.3(UGT1A1):c.622_625dup (p.Arg209fs)	UGT1A, UGT1A1 +8 more (R209fs)	Duplication (intron variant +1 more)	not provided +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 160239	NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly)	UGT1A, UGT1A1 +8 more (V225G)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity; other
Select item 12274	NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln)	UGT1A, UGT1A1 +8 more (P229Q)	Single nucleotide variant (missense variant +1 more)	UGT1A1-related disorder +2 more	GConflicting classifications of pathogenicity; other
Select item 212545	NM_000463.3(UGT1A1):c.722_723del (p.Glu241fs)	UGT1A, UGT1A1 +8 more (E241fs)	Microsatellite (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 160240	NM_000463.3(UGT1A1):c.748T>C (p.Ser250Pro)	UGT1A5, UGT1A6 +8 more (S250P)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 12270	NM_000463.3(UGT1A1):c.992A>G (p.Gln331Arg)	UGT1A, UGT1A6 +8 more (Q331R +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1338357	NM_000463.3(UGT1A1):c.996+2_996+5del	UGT1A, UGT1A1 +8 more	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 160241	NM_000463.3(UGT1A1):c.996+15T>C	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 12269	NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter)	UGT1A5, UGT1A +8 more (R341* +4 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1338379	NM_000463.3(UGT1A1):c.1043del (p.Asn348fs)	UGT1A, UGT1A1 +8 more (N345fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 160229	NM_000463.3(UGT1A1):c.1084+1G>T	UGT1A4, UGT1A5 +8 more	Single nucleotide variant (splice donor variant)	Hyperbilirubinemia +1 more	GPathogenic/Likely pathogenic
Select item 212543	NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)	UGT1A9, UGT1A +8 more (P361L +4 more)	Single nucleotide variant (missense variant)	Gilbert syndrome +8 more	GConflicting classifications of pathogenicity; other
Select item 1338358	NM_000463.3(UGT1A1):c.1130G>T (p.Gly377Val)	UGT1A10, UGT1A +8 more (G109V +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 160230	NM_000463.3(UGT1A1):c.1231G>T (p.Val411Leu)	UGT1A, UGT1A1 +8 more (V143L +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 160231	NM_000463.3(UGT1A1):c.1354G>T (p.Val452Leu)	UGT1A, UGT1A1 +8 more (V184L +4 more)	Single nucleotide variant (missense variant)	Hyperbilirubinemia	GUncertain significance
Select item 1338434	NM_000463.3(UGT1A1):c.1381T>C (p.Trp461Arg)	UGT1A3, UGT1A4 +8 more (W193R +4 more)	Single nucleotide variant (missense variant)	UGT1A1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 160232	NM_000463.3(UGT1A1):c.1413G>A (p.Ala471=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant)	Hyperbilirubinemia	GUncertain significance
Select item 160235	NM_000463.3(UGT1A1):c.1428C>T (p.Pro476=)	UGT1A5, UGT1A6 +8 more	Single nucleotide variant (synonymous variant)	Gilbert syndrome +4 more	GConflicting classifications of pathogenicity
Select item 12281	NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp)	UGT1A, UGT1A1 +8 more (Y486D +4 more)	Single nucleotide variant (missense variant)	UGT1A1-related disorder +7 more	GPathogenic/Likely pathogenic

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Items: 36