"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ASS1"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 439417	NM_054012.4(ASS1):c.299G>A (p.Arg100His)	ASS1 (R100H)	Single nucleotide variant (missense variant)	Citrullinemia +4 more	GUncertain significance
Select item 1484114	NM_054012.4(ASS1):c.363G>A (p.Lys121=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia type I +1 more	GUncertain significance
Select item 1366187	NM_054012.4(ASS1):c.490G>A (p.Ala164Thr)	ASS1 (A164T)	Single nucleotide variant (missense variant)	Citrullinemia type I +1 more	GUncertain significance
Select item 1020538	NM_054012.4(ASS1):c.533C>T (p.Pro178Leu)	ASS1 (P178L)	Single nucleotide variant (missense variant)	Citrullinemia type I +3 more	GUncertain significance
Select item 6335	NM_054012.4(ASS1):c.535T>C (p.Trp179Arg)	ASS1 (W179R)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 6326	NM_054012.4(ASS1):c.539G>A (p.Ser180Asn)	ASS1 (S180N)	Single nucleotide variant (missense variant)	Citrullinemia type I +2 more	GPathogenic/Likely pathogenic
Select item 92372	NM_054012.4(ASS1):c.787G>A (p.Val263Met)	ASS1 (V263M)	Single nucleotide variant (missense variant)	Citrullinemia +2 more	GPathogenic/Likely pathogenic
Select item 6333	NM_054012.4(ASS1):c.835C>T (p.Arg279Ter)	ASS1 (R279*)	Single nucleotide variant (nonsense)	Citrullinemia type I +1 more	GPathogenic/Likely pathogenic
Select item 92375	NM_054012.4(ASS1):c.836G>A (p.Arg279Gln)	ASS1 (R279Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 265044	NM_054012.4(ASS1):c.919C>T (p.Arg307Cys)	ASS1 (R307C)	Single nucleotide variant (missense variant)	Citrullinemia +2 more	GConflicting classifications of pathogenicity
Select item 528371	NM_054012.4(ASS1):c.920G>A (p.Arg307His)	ASS1 (R307H)	Single nucleotide variant (missense variant)	Citrullinemia type I +3 more	GUncertain significance
Select item 6327	NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)	ASS1 (G324S)	Single nucleotide variant (missense variant)	Citrullinemia +3 more	GPathogenic/Likely pathogenic
Select item 265962	NM_054012.4(ASS1):c.970+5G>A	ASS1	Single nucleotide variant (intron variant)	Citrullinemia +3 more	GPathogenic/Likely pathogenic
Select item 528370	NM_054012.4(ASS1):c.1003C>T (p.Arg335Cys)	ASS1 (R335C)	Single nucleotide variant (missense variant)	Citrullinemia type I +1 more	GConflicting classifications of pathogenicity
Select item 528373	NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter)	ASS1 (Q357*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 6328	NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp)	ASS1 (R363W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 203631	NM_054012.4(ASS1):c.1088G>A (p.Arg363Gln)	ASS1 (R363Q)	Single nucleotide variant (missense variant)	Citrullinemia type I +2 more	GPathogenic/Likely pathogenic
Select item 6329	NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg)	ASS1 (G390R)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic