ClinVar for MedGen (Select 86321) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 212544	NM_000463.3(UGT1A1):c.238_239insGTAC (p.Pro80fs)	UGT1A, UGT1A1 +8 more (P80fs)	Insertion (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 212543	NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)	UGT1A5, UGT1A6 +8 more (P361L +4 more)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity; other
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 160240	NM_000463.3(UGT1A1):c.748T>C (p.Ser250Pro)	UGT1A, UGT1A1 +8 more (S250P)	Single nucleotide variant (missense variant +1 more)	Lucey-Driscoll syndrome +4 more	GUncertain significance
Select item 160239	NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly)	UGT1A, UGT1A4 +8 more (V225G)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity; other
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 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 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 160234	NM_000463.3(UGT1A1):c.141C>T (p.Ile47=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	Lucey-Driscoll syndrome +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 160232	NM_000463.3(UGT1A1):c.1413G>A (p.Ala471=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant)	Hyperbilirubinemia	GUncertain significance
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 160230	NM_000463.3(UGT1A1):c.1231G>T (p.Val411Leu)	UGT1A10, UGT1A6 +8 more (V143L +4 more)	Single nucleotide variant (missense variant)	UGT1A1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 160229	NM_000463.3(UGT1A1):c.1084+1G>T	UGT1A10, UGT1A3 +8 more	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
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
Select item 1170	NM_000505.4(F12):c.983C>G (p.Thr328Arg)	F12 (T328R)	Single nucleotide variant (missense variant)	Factor XII deficiency disease +4 more	GPathogenic