C0268548[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 555971	NM_000045.4(ARG1):c.2T>C (p.Met1Thr)	ARG1 (M1T)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 549899	NM_000045.4(ARG1):c.58-2A>C	ARG1, MED23	Single nucleotide variant (splice acceptor variant +1 more)	Arginase deficiency	GLikely pathogenic
Select item 551041	NM_000045.4(ARG1):c.80G>A (p.Gly27Asp)	ARG1, MED23 (G27D)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GConflicting classifications of pathogenicity
Select item 554020	NM_000045.4(ARG1):c.124_126del (p.Glu42del)	MED23, ARG1 (E42del)	Deletion (intron variant)	Arginase deficiency	GUncertain significance
Select item 557931	NM_000045.4(ARG1):c.129del (p.Glu44fs)	ARG1, MED23 (E44fs)	Deletion (frameshift variant +1 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 555785	NM_000045.4(ARG1):c.130+1G>T	ARG1, MED23	Single nucleotide variant (splice donor variant +1 more)	Arginase deficiency	GLikely pathogenic
Select item 558164	NM_000045.4(ARG1):c.131-9dup	ARG1, MED23 (L49fs)	Duplication (frameshift variant +1 more)	Arginase deficiency	GUncertain significance
Select item 552641	NM_000045.4(ARG1):c.131-7_131-2del	ARG1, MED23	Deletion (splice acceptor variant +1 more)	Arginase deficiency	GUncertain significance
Select item 554422	NM_000045.4(ARG1):c.212G>C (p.Arg71Thr)	ARG1, MED23 (R71T +1 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GUncertain significance
Select item 203606	NM_000045.4(ARG1):c.272dup (p.Arg92fs)	ARG1, MED23 (R92fs +1 more)	Duplication (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 551529	NM_000045.4(ARG1):c.295G>A (p.Gly99Arg)	ARG1, MED23 (G99R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 553898	NM_000045.4(ARG1):c.372dup (p.Ala125fs)	ARG1, MED23 (A125fs +1 more)	Duplication (frameshift variant +2 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 557470	NM_000045.4(ARG1):c.422A>T (p.His141Leu)	ARG1, MED23 (H141L +1 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GUncertain significance
Select item 556022	NM_000045.4(ARG1):c.425G>A (p.Gly142Glu)	ARG1, MED23 (G142E +1 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GConflicting classifications of pathogenicity
Select item 553986	NM_000045.4(ARG1):c.435_437dup (p.Ser146_Phe147insSer)	ARG1, MED23	Duplication (non-coding transcript variant +1 more)	Arginase deficiency	GUncertain significance
Select item 557567	NM_000045.4(ARG1):c.466-2A>G	ARG1, MED23	Single nucleotide variant (splice acceptor variant +1 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 556728	NM_000045.4(ARG1):c.560+5G>A	ARG1, MED23	Single nucleotide variant (intron variant)	Arginase deficiency	GUncertain significance
Select item 556790	NM_000045.4(ARG1):c.575_577dup (p.Thr192_Leu193insPro)	ARG1, MED23	Duplication (non-coding transcript variant +1 more)	Arginase deficiency	GUncertain significance
Select item 553543	NM_000045.4(ARG1):c.640_643dup (p.Thr215fs)	ARG1, MED23 (T215fs +2 more)	Duplication (frameshift variant +2 more)	Arginase deficiency	GLikely pathogenic
Select item 558545	NM_000045.4(ARG1):c.693del (p.Phe231fs)	ARG1, MED23 (F239fs +2 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GLikely pathogenic
Select item 419417	NM_000045.4(ARG1):c.703G>A (p.Gly235Arg)	MED23, ARG1 (G235R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic
Select item 551012	NM_000045.4(ARG1):c.767_769del (p.Glu256del)	ARG1, MED23 (E256del +2 more)	Deletion (non-coding transcript variant +1 more)	Arginase deficiency	GUncertain significance
Select item 557951	NM_000045.4(ARG1):c.787G>T (p.Glu263Ter)	ARG1, MED23 (E263* +2 more)	Single nucleotide variant (nonsense +2 more)	Arginase deficiency	GLikely pathogenic
Select item 550456	NM_000045.4(ARG1):c.860AAG[1] (p.Glu288del)	ARG1, MED23 (E288del +2 more)	Microsatellite (non-coding transcript variant +1 more)	Arginase deficiency	GConflicting classifications of pathogenicity
Select item 2388	NM_000045.4(ARG1):c.871C>T (p.Arg291Ter)	ARG1, MED23 (R291* +2 more)	Single nucleotide variant (nonsense +2 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 554834	NM_000045.4(ARG1):c.874del (p.Thr292fs)	ARG1, MED23 (T300fs +2 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GLikely pathogenic
Select item 419034	NM_000045.4(ARG1):c.892G>C (p.Ala298Pro)	ARG1, MED23 (A298P +2 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 552439	NM_000045.4(ARG1):c.913G>A (p.Gly305Arg)	ARG1, MED23 (G305R +2 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GConflicting classifications of pathogenicity
Select item 550134	NM_000045.4(ARG1):c.913G>C (p.Gly305Arg)	ARG1, MED23 (G305R +2 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	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 553262	NM_000045.4(ARG1):c.945dup (p.Asp316Ter)	ARG1, MED23 (D324* +2 more)	Duplication (nonsense +2 more)	Arginase deficiency	GUncertain significance
Select item 555762	NM_000045.4(ARG1):c.959_962del (p.Pro320fs)	ARG1, MED23 (P320fs +2 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GUncertain significance

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Items: 32