ARG1[gene] and "single gene"[properties] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1201077	NC_000006.12:g.131572958G>A	ARG1	Single nucleotide variant	not provided	GLikely benign
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)	not provided +1 more	GUncertain significance
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 645245	NM_000045.4(ARG1):c.3G>A (p.Met1Ile)	ARG1 (M1I)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 1945671	NM_000045.4(ARG1):c.4A>G (p.Ser2Gly)	ARG1 (S2G)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 2007103	NM_000045.4(ARG1):c.5G>T (p.Ser2Ile)	ARG1 (S2I)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 1529356	NM_000045.4(ARG1):c.6C>T (p.Ser2=)	ARG1	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 1493188	NM_000045.4(ARG1):c.7G>A (p.Ala3Thr)	ARG1 (A3T)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 1042824	NM_000045.4(ARG1):c.7G>C (p.Ala3Pro)	ARG1 (A3P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2863052	NM_000045.4(ARG1):c.9C>G (p.Ala3=)	ARG1	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 1979830	NM_000045.4(ARG1):c.14C>G (p.Ser5Cys)	ARG1 (S5C)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 795190	NM_000045.4(ARG1):c.15C>G (p.Ser5=)	ARG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1517542	NM_000045.4(ARG1):c.16A>G (p.Arg6Gly)	ARG1 (R6G)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 1362705	NM_000045.4(ARG1):c.19A>C (p.Thr7Pro)	ARG1 (T7P)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 1060640	NM_000045.4(ARG1):c.22A>G (p.Ile8Val)	ARG1 (I8V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1044951	NM_000045.4(ARG1):c.23T>A (p.Ile8Lys)	ARG1 (I8K)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 992369	NM_000045.4(ARG1):c.30del (p.Ile11fs)	ARG1 (I11fs)	Deletion (frameshift variant +1 more)	Arginase deficiency	GLikely pathogenic
Select item 2007945	NM_000045.4(ARG1):c.30T>C (p.Ile10=)	ARG1	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 2393	NM_000045.4(ARG1):c.32T>C (p.Ile11Thr)	ARG1 (I11T)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 2713318	NM_000045.4(ARG1):c.42T>G (p.Pro14=)	ARG1	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 738539	NM_000045.4(ARG1):c.42T>A (p.Pro14=)	ARG1	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency +1 more	GLikely benign
Select item 1074774	NM_000045.4(ARG1):c.50del (p.Lys17fs)	ARG1 (K17fs)	Deletion (frameshift variant +1 more)	Arginase deficiency	GPathogenic
Select item 763789	NM_000045.4(ARG1):c.48A>C (p.Ser16=)	ARG1	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 2174625	NM_000045.4(ARG1):c.51G>C (p.Lys17Asn)	ARG1 (K17N)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GUncertain significance
Select item 2850282	NM_000045.4(ARG1):c.54A>G (p.Gly18=)	ARG1	Single nucleotide variant (synonymous variant +1 more)	Arginase deficiency	GLikely benign
Select item 1500820	NM_000045.4(ARG1):c.57+2_57+6del	ARG1	Deletion (splice donor variant)	Arginase deficiency	GLikely pathogenic
Select item 1494596	NM_000045.4(ARG1):c.56A>T (p.Gln19Leu)	ARG1 (Q19L)	Single nucleotide variant (missense 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 3240350	NM_000045.4(ARG1):c.57+1G>C	ARG1	Single nucleotide variant (splice donor variant)	Arginase deficiency	GLikely pathogenic
Select item 2102477	NM_000045.4(ARG1):c.57+1G>T	ARG1	Single nucleotide variant (splice donor variant)	Arginase deficiency	GPathogenic
Select item 2395	NM_000045.4(ARG1):c.57+1G>A	ARG1	Single nucleotide variant (splice donor variant)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 2710297	NM_000045.4(ARG1):c.57+7A>G	ARG1	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 752858	NM_000045.4(ARG1):c.57+12del	ARG1	Deletion (intron variant)	Arginase deficiency	GBenign
Select item 3023083	NM_000045.4(ARG1):c.57+12A>G	ARG1	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 2876699	NM_000045.4(ARG1):c.57+12A>T	ARG1	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 2695035	NM_000045.4(ARG1):c.57+18dup	ARG1	Duplication (intron variant)	Arginase deficiency	GLikely benign
Select item 2904388	NM_000045.4(ARG1):c.57+20T>C	ARG1	Single nucleotide variant (intron variant)	Arginase deficiency	GLikely benign
Select item 1300776	NM_000045.4(ARG1):c.57+195G>A	ARG1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 40