"PreventionGenetics, part of Exact Sciences"[submitter] AND "ASS1"[gen - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 254750	NM_054012.4(ASS1):c.99C>T (p.Ala33=)	ASS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 197098	NM_054012.4(ASS1):c.106-10T>G	ASS1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 254743	NM_054012.4(ASS1):c.174+21A>G	ASS1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 254744	NM_054012.4(ASS1):c.363+16A>G	ASS1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 254745	NM_054012.4(ASS1):c.364-6T>C	ASS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 365254	NM_054012.4(ASS1):c.420+13T>G	ASS1	Single nucleotide variant (intron variant)	Citrullinemia type I +3 more	GConflicting classifications of pathogenicity
Select item 254746	NM_054012.4(ASS1):c.421-28C>T	ASS1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1089006	NM_054012.4(ASS1):c.438G>A (p.Arg146=)	ASS1	Single nucleotide variant (synonymous variant)	ASS1-related disorder +1 more	GLikely benign
Select item 92369	NM_054012.4(ASS1):c.501C>T (p.His167=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia type I +2 more	GBenign
Select item 6335	NM_054012.4(ASS1):c.535T>C (p.Trp179Arg)	ASS1 (W179R)	Single nucleotide variant (missense variant)	Citrullinemia type I +3 more	GPathogenic
Select item 682528	NM_054012.4(ASS1):c.566+18C>G	ASS1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 254747	NM_054012.4(ASS1):c.597+8C>T	ASS1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 92370	NM_054012.4(ASS1):c.597+18A>G	ASS1	Single nucleotide variant (intron variant)	Citrullinemia type I +3 more	GBenign
Select item 679427	NM_054012.4(ASS1):c.622A>G (p.Thr208Ala)	ASS1 (T208A)	Single nucleotide variant (missense variant)	ASS1-related disorder +3 more	GBenign/Likely benign
Select item 203630	NM_054012.4(ASS1):c.675C>T (p.Ile225=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia type I +2 more	GBenign
Select item 193550	NM_054012.4(ASS1):c.688+4T>C	ASS1	Single nucleotide variant (intron variant)	Citrullinemia type I +2 more	GBenign
Select item 385432	NM_054012.4(ASS1):c.765C>T (p.Asn255=)	ASS1	Single nucleotide variant (synonymous variant)	ASS1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3037953	NM_054012.4(ASS1):c.773+59C>A	ASS1	Single nucleotide variant (intron variant)	ASS1-related disorder	GLikely benign
Select item 813462	NM_054012.4(ASS1):c.774-2A>G	ASS1	Single nucleotide variant (splice acceptor variant)	Citrullinemia type I +2 more	GPathogenic/Likely pathogenic
Select item 254748	NM_054012.4(ASS1):c.804C>T (p.Ile268=)	ASS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2636500	NM_054012.4(ASS1):c.824G>T (p.Gly275Val)	ASS1 (G275V)	Single nucleotide variant (missense variant)	ASS1-related disorder	GUncertain significance
Select item 254749	NM_054012.4(ASS1):c.838+38A>G	ASS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 92376	NM_054012.4(ASS1):c.876T>C (p.His292=)	ASS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 6327	NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)	ASS1 (G324S)	Single nucleotide variant (missense variant)	Citrullinemia +3 more	GPathogenic/Likely pathogenic
Select item 3060244	NM_054012.4(ASS1):c.1036G>T (p.Glu346Ter)	ASS1 (E346*)	Single nucleotide variant (nonsense)	ASS1-related disorder	GLikely pathogenic

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Items: 25