"Myriad Genetics, Inc."[submitter] AND "ASS1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 203632	NM_054012.4(ASS1):c.-4C>T	ASS1	Single nucleotide variant (5 prime UTR variant)	Citrullinemia +3 more	GConflicting classifications of pathogenicity
Select item 1726350	NM_054012.4(ASS1):c.130_132delinsA (p.Phe44fs)	ASS1 (F44fs)	Indel (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 198386	NM_054012.4(ASS1):c.421-2A>G	ASS1	Single nucleotide variant (splice acceptor variant)	Citrullinemia +2 more	GPathogenic
Select item 1724196	NM_054012.4(ASS1):c.432_433del (p.Trp145fs)	ASS1 (W145fs)	Deletion (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 1724383	NM_054012.4(ASS1):c.493A>T (p.Lys165Ter)	ASS1 (K165*)	Single nucleotide variant (nonsense)	Citrullinemia type I	GLikely pathogenic
Select item 1725488	NM_054012.4(ASS1):c.620_622delinsT (p.Tyr207fs)	ASS1 (Y207fs)	Indel (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 1723996	NM_054012.4(ASS1):c.620_622delinsCT (p.Tyr207fs)	ASS1 (Y207fs)	Indel (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 1724653	NM_054012.4(ASS1):c.844_850del (p.Tyr282fs)	ASS1 (Y282fs)	Deletion (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 1725818	NM_054012.4(ASS1):c.1042A>T (p.Lys348Ter)	ASS1 (K348*)	Single nucleotide variant (nonsense)	Citrullinemia type I	GLikely pathogenic
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)	Citrullinemia type I +3 more	GPathogenic/Likely pathogenic