C0017551[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12287	NM_000463.3(UGT1A1):c.44T>G (p.Leu15Arg)	UGT1A3, UGT1A9 +8 more (L15R)	Single nucleotide variant (missense variant +1 more)	Crigler-Najjar syndrome, type II +4 more	GLikely pathogenic
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 291189	NM_000463.3(UGT1A1):c.137C>T (p.Ala46Val)	UGT1A, UGT1A1 +8 more (A46V)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
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 212543	NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)	UGT1A3, UGT1A +8 more (P361L +4 more)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity; other
Select item 288098	NM_000463.3(UGT1A1):c.1099C>T (p.Arg367Cys)	UGT1A4, UGT1A5 +8 more (R367C +4 more)	Single nucleotide variant (missense variant)	UGT1A1-related disorder +6 more	GUncertain significance
Select item 498359	NM_000463.3(UGT1A1):c.1207C>T (p.Arg403Cys)	UGT1A, UGT1A4 +8 more (R403C +4 more)	Single nucleotide variant (missense variant)	Lucey-Driscoll syndrome +5 more	GUncertain significance
Select item 286999	NM_000463.3(UGT1A1):c.1324C>T (p.Arg442Cys)	UGT1A, UGT1A1 +8 more (R442C +4 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 197672	NM_000463.3(UGT1A1):c.1352C>T (p.Pro451Leu)	UGT1A10, UGT1A3 +8 more (P183L +4 more)	Single nucleotide variant (missense variant)	Bilirubin, serum level of, quantitative trait locus 1 +5 more	GConflicting classifications of pathogenicity
Select item 12281	NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp)	UGT1A10, UGT1A3 +8 more (Y486D +4 more)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic