C4721769[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193371	NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr)	LOC129998833, SLC25A13 (M1T)	Single nucleotide variant (missense variant +2 more)	Citrullinemia type I +6 more	GUncertain significance
Select item 1332899	NM_054012.4(ASS1):c.286C>A (p.Pro96Thr)	ASS1 (P96T)	Single nucleotide variant (missense variant)	Citrullinemia type I +1 more	GLikely pathogenic
Select item 556029	NM_054012.4(ASS1):c.349G>A (p.Gly117Ser)	ASS1 (G117S)	Single nucleotide variant (missense variant)	Citrullinemia +1 more	GPathogenic/Likely pathogenic
Select item 813406	NM_054012.4(ASS1):c.352G>A (p.Ala118Thr)	ASS1 (A118T)	Single nucleotide variant (missense variant)	Citrullinemia type I +2 more	GPathogenic
Select item 458673	NM_054012.4(ASS1):c.370G>A (p.Asp124Asn)	ASS1 (D124N)	Single nucleotide variant (missense variant)	Citrullinemia type I +1 more	GPathogenic
Select item 365255	NM_054012.4(ASS1):c.458G>A (p.Arg153Gln)	ASS1 (R153Q)	Single nucleotide variant (missense variant)	Citrullinemia type I +1 more	GUncertain significance
Select item 6335	NM_054012.4(ASS1):c.535T>C (p.Trp179Arg)	ASS1 (W179R)	Single nucleotide variant (missense variant)	ASS1-related condition +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 1323948	NM_054012.4(ASS1):c.571G>T (p.Glu191Ter)	ASS1 (E191*)	Single nucleotide variant (nonsense)	Citrullinemia type I	GLikely pathogenic
Select item 2439268	NM_054012.4(ASS1):c.590A>G (p.Asn197Ser)	ASS1 (N197S)	Single nucleotide variant (missense variant)	Citrullinemia type I	GUncertain significance
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 840768	NM_054012.4(ASS1):c.846C>A (p.Tyr282Ter)	ASS1 (Y282*)	Single nucleotide variant (nonsense)	Citrullinemia type I +1 more	GPathogenic/Likely pathogenic
Select item 188832	NM_054012.4(ASS1):c.892del (p.Glu298fs)	ASS1 (E298fs)	Deletion (frameshift variant)	Citrullinemia type I +2 more	GPathogenic/Likely pathogenic
Select item 1323949	NM_054012.4(ASS1):c.904A>G (p.Met302Val)	ASS1 (M302V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 365260	NM_054012.4(ASS1):c.929A>G (p.Lys310Arg)	ASS1 (K310R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 6328	NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp)	ASS1 (R363W)	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)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 166704	NM_054012.4(ASS1):c.1194-1G>C	ASS1	Single nucleotide variant (splice acceptor variant)	Citrullinemia type I +2 more	GPathogenic

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Items: 23