"Illumina Laboratory Services, Illumina"[submitter] AND "ARG1"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 355314	NM_000045.3(ARG1):c.-70A>G	ARG1	Single nucleotide variant	Arginase deficiency	GUncertain significance
Select item 355315	NM_000045.3(ARG1):c.-65C>T	ARG1	Single nucleotide variant	Arginase deficiency +1 more	GBenign
Select item 355316	NM_000045.4(ARG1):c.-21A>C	ARG1	Single nucleotide variant (5 prime UTR variant +1 more)	Arginase deficiency	GUncertain significance
Select item 355317	NM_000045.4(ARG1):c.57G>A (p.Gln19=)	ARG1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 517018	NM_000045.4(ARG1):c.62G>A (p.Arg21Gln)	MED23, ARG1 (R21Q)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 355318	NM_000045.4(ARG1):c.75A>G (p.Glu25=)	ARG1, MED23	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 136419	NM_000045.4(ARG1):c.270C>T (p.Asn90=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign
Select item 907222	NM_000045.4(ARG1):c.271G>A (p.Gly91Arg)	ARG1, MED23 (G91R +1 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GUncertain significance
Select item 355319	NM_000045.4(ARG1):c.305+7T>C	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	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 903877	NM_000045.4(ARG1):c.482G>C (p.Gly161Ala)	ARG1, MED23 (G161A +1 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GUncertain significance
Select item 355320	NM_000045.4(ARG1):c.566T>A (p.Ile189Asn)	ARG1, MED23 (I189N +2 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GUncertain significance
Select item 703580	NM_000045.4(ARG1):c.594T>C (p.Phe198=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 903878	NM_000045.4(ARG1):c.804G>C (p.Gly268=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GConflicting classifications of pathogenicity
Select item 513240	NM_000045.4(ARG1):c.912C>T (p.Phe304=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency +1 more	GBenign/Likely benign
Select item 903879	NM_000045.4(ARG1):c.928G>T (p.Gly310Cys)	ARG1, MED23 (G310C +2 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GUncertain significance
Select item 903880	NM_000045.4(ARG1):c.936C>T (p.His312=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GConflicting classifications of pathogenicity
Select item 355321	NM_000045.4(ARG1):c.944T>C (p.Ile315Thr)	ARG1, MED23 (I315T +2 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 355322	NM_000045.4(ARG1):c.*73A>G	ARG1, MED23	Single nucleotide variant (3 prime UTR variant +2 more)	Arginase deficiency	GUncertain significance
Select item 355323	NM_000045.4(ARG1):c.*310A>G	ARG1, MED23	Single nucleotide variant (3 prime UTR variant +2 more)	Arginase deficiency	GUncertain significance

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Items: 20