"Invitae"[submitter] AND "AGO3"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 746665	NM_024852.4(AGO3):c.429G>C (p.Arg143=)	AGO3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 796872	NM_024852.4(AGO3):c.435G>A (p.Leu145=)	AGO3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 723872	NM_024852.4(AGO3):c.510G>A (p.Leu170=)	AGO3	Single nucleotide variant (synonymous variant +1 more)	AGO3-related condition +1 more	GBenign/Likely benign
Select item 756922	NM_024852.4(AGO3):c.684A>G (p.Ala228=)	AGO3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 720219	NM_024852.4(AGO3):c.930G>A (p.Ala310=)	AGO3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 720252	NM_024852.4(AGO3):c.1002A>G (p.Glu334=)	AGO3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 774393	NM_024852.4(AGO3):c.1209G>A (p.Arg403=)	AGO3	Single nucleotide variant (synonymous variant)	AGO3-related condition +1 more	GBenign/Likely benign
Select item 738685	NM_024852.4(AGO3):c.1257C>G (p.Leu419=)	AGO3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 780766	NM_024852.4(AGO3):c.1572G>A (p.Pro524=)	AGO3	Single nucleotide variant (synonymous variant)	AGO3-related condition +1 more	GBenign
Select item 726237	NM_024852.4(AGO3):c.1660A>G (p.Ile554Val)	AGO3 (I554V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 752985	NM_024852.4(AGO3):c.1751+10G>A	AGO3, LOC126805696	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 717673	NM_024852.4(AGO3):c.1803T>C (p.His601=)	AGO3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790925	NM_024852.4(AGO3):c.1959A>G (p.Gln653=)	AGO3	Single nucleotide variant (synonymous variant)	AGO3-related condition +1 more	GBenign
Select item 780236	NM_024852.4(AGO3):c.2343G>A (p.Gln781=)	AGO3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 755490	NM_024852.4(AGO3):c.2520A>G (p.Pro840=)	AGO3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786461	NM_024852.4(AGO3):c.2577C>T (p.Phe859=)	AGO3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	CLSPN, COL8A2 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance