ClinVar for MedGen (Select 419718) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066040	NM_000463.3(UGT1A1):c.1216_1225del (p.Thr406fs)	UGT1A, UGT1A1 +8 more (T138fs +4 more)	Deletion (frameshift variant)	Crigler-Najjar syndrome, type II +3 more	GPathogenic
Select item 2627409	NM_000463.3(UGT1A1):c.418del (p.Leu140fs)	UGT1A, UGT1A1 +8 more (L140fs)	Deletion (frameshift variant +1 more)	Crigler-Najjar syndrome, type II	GLikely pathogenic
Select item 2502824	NM_000463.3(UGT1A1):c.110G>A (p.Gly37Asp)	UGT1A, UGT1A1 +8 more (G37D)	Single nucleotide variant (missense variant +1 more)	Crigler-Najjar syndrome, type II	GUncertain significance
Select item 2412815	NM_000463.3(UGT1A1):c.1349G>T (p.Arg450Leu)	UGT1A10, UGT1A +8 more (R182L +4 more)	Single nucleotide variant (missense variant)	Crigler-Najjar syndrome, type II	GLikely pathogenic
Select item 1694445	NM_000463.3(UGT1A1):c.725del (p.Val242fs)	UGT1A, UGT1A1 +8 more (V242fs)	Deletion (frameshift variant +1 more)	Gilbert syndrome +3 more	GPathogenic
Select item 1409267	NM_000463.3(UGT1A1):c.686C>T (p.Pro229Leu)	UGT1A, UGT1A1 +8 more (P229L)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1339104	NM_000463.3(UGT1A1):c.358T>C (p.Ser120Pro)	UGT1A, UGT1A1 +8 more (S120P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1333431	NM_000463.3(UGT1A1):c.826G>C (p.Gly276Arg)	UGT1A, UGT1A1 +8 more (G276R)	Single nucleotide variant (missense variant +1 more)	Crigler-Najjar syndrome, type II	GPathogenic
Select item 1206193	NM_000463.3(UGT1A1):c.1220del (p.Lys407fs)	UGT1A, UGT1A1 +8 more (K139fs +4 more)	Deletion (frameshift variant)	Crigler-Najjar syndrome, type II +1 more	GPathogenic
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 498359	NM_000463.3(UGT1A1):c.1207C>T (p.Arg403Cys)	UGT1A, UGT1A1 +8 more (R403C +4 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 498039	NM_000463.3(UGT1A1):c.835A>T (p.Asn279Tyr)	UGT1A, UGT1A1 +8 more (N279Y)	Single nucleotide variant (missense variant +1 more)	Crigler-Najjar syndrome, type II +1 more	GConflicting classifications of pathogenicity
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 437206	NM_000463.3(UGT1A1):c.72G>A (p.Val24=)	UGT1A4, UGT1A5 +8 more	Single nucleotide variant (synonymous variant +1 more)	Lucey-Driscoll syndrome +5 more	GLikely benign
Select item 420162	NM_000463.3(UGT1A1):c.1084G>A (p.Gly362Ser)	UGT1A, UGT1A1 +8 more (G362S +4 more)	Single nucleotide variant (missense variant)	Crigler-Najjar syndrome, type II +2 more	GConflicting classifications of pathogenicity
Select item 291189	NM_000463.3(UGT1A1):c.137C>T (p.Ala46Val)	UGT1A, UGT1A1 +8 more (A46V)	Single nucleotide variant (missense variant +1 more)	Lucey-Driscoll syndrome +5 more	GUncertain significance
Select item 288098	NM_000463.3(UGT1A1):c.1099C>T (p.Arg367Cys)	UGT1A, UGT1A1 +8 more (R367C +4 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
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 212543	NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)	UGT1A, UGT1A1 +8 more (P361L +4 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity; other
Select item 197672	NM_000463.3(UGT1A1):c.1352C>T (p.Pro451Leu)	UGT1A, UGT1A1 +8 more (P183L +4 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 160236	NM_000463.3(UGT1A1):c.322C>T (p.Arg108Cys)	UGT1A, UGT1A1 +8 more (R108C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 12288	NM_001072.4(UGT1A6):c.862-10021T>G	UGT1A4, UGT1A +8 more	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 12287	NM_000463.3(UGT1A1):c.44T>G (p.Leu15Arg)	UGT1A, UGT1A1 +8 more (L15R)	Single nucleotide variant (missense variant +1 more)	Gilbert syndrome +4 more	GLikely pathogenic
Select item 12286	NM_000463.3(UGT1A1):c.1198A>G (p.Asn400Asp)	UGT1A, UGT1A1 +8 more (N400D +4 more)	Single nucleotide variant (missense variant)	UGT1A1-related disorder	GUncertain significance
Select item 12285	NM_000463.3(UGT1A1):c.524T>A (p.Leu175Gln)	UGT1A3, UGT1A4 +8 more (L175Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic; other
Select item 12284	UGT1A1, 1-BP DEL, 1223A	UGT1A1	Deletion	Crigler-Najjar syndrome, type II	GPathogenic
Select item 12281	NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp)	UGT1A10, UGT1A9 +8 more (Y486D +4 more)	Single nucleotide variant (missense variant)	Hyperbilirubinemia +6 more	GPathogenic/Likely pathogenic
Select item 12280	UGT1A1*6	UGT1A4, UGT1A5 +8 more (G71R)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity; drug response
Select item 12275	UGT1A1*28	UGT1A1, UGT1A7 +8 more	Microsatellite (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity; drug response; other
Select item 12274	NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln)	UGT1A4, UGT1A5 +8 more (P229Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity; other
Select item 12270	NM_000463.3(UGT1A1):c.992A>G (p.Gln331Arg)	UGT1A, UGT1A1 +8 more (Q331R +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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Items: 31