"Women's Health and Genetics/Laboratory Corporation of America, LabCor - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1723397	NM_000045.4(ARG1):c.314_345delinsATGCAAGCATCAGGATGACT (p.Ile105_His115delinsAsnAlaSerIleArgMetThr)	MED23, ARG1	Indel (inframe_indel +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 632472	NM_000045.4(ARG1):c.383A>G (p.Asp128Gly)	ARG1, MED23 (D128G +1 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 802268	NM_000045.4(ARG1):c.404C>T (p.Thr135Ile)	ARG1, MED23 (T135I +1 more)	Single nucleotide variant (missense variant +2 more)	See cases +1 more	GConflicting classifications of pathogenicity
Select item 1355302	NM_000045.4(ARG1):c.665+4G>A	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency +1 more	GUncertain significance
Select item 966411	NM_000045.4(ARG1):c.798A>C (p.Lys266Asn)	ARG1, MED23 (K274N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GUncertain significance
Select item 550679	NM_000045.4(ARG1):c.923G>A (p.Arg308Gln)	ARG1, MED23 (R308Q +2 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GPathogenic
Select item 459925	NM_000045.4(ARG1):c.938del (p.Lys313fs)	MED23, ARG1 (K313fs +2 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 620500	NM_004830.4(MED23):c.3353C>G (p.Ser1118Ter)	MED23 (S1124* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 18 +1 more	GPathogenic/Likely pathogenic