"Ambry Genetics"[submitter] AND "RPS6KA3"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2232045	NM_004586.3(RPS6KA3):c.2203dup (p.Ile735fs)	RPS6KA3 (I735fs)	Duplication (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 11658	NM_004586.3(RPS6KA3):c.2186G>A (p.Arg729Gln)	RPS6KA3 (R729Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 212070	NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His)	RPS6KA3 (R723H)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 3156209	NM_004586.3(RPS6KA3):c.2167C>T (p.Arg723Cys)	RPS6KA3 (R723C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3156208	NM_004586.3(RPS6KA3):c.2076_2079del (p.Gln693fs)	RPS6KA3 (Q693fs)	Microsatellite (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1247341	NM_004586.3(RPS6KA3):c.2073C>T (p.Asn691=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
Select item 2479037	NM_004586.3(RPS6KA3):c.2012C>T (p.Ala671Val)	RPS6KA3 (A671V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 212068	NM_004586.3(RPS6KA3):c.1989C>T (p.Asp663=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Coffin-Lowry syndrome +4 more	GBenign/Likely benign
Select item 985211	NM_004586.3(RPS6KA3):c.1970C>G (p.Ser657Ter)	RPS6KA3 (S657*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 287016	NM_004586.3(RPS6KA3):c.1884A>T (p.Glu628Asp)	RPS6KA3 (E628D)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 2603726	NM_004586.3(RPS6KA3):c.1859del (p.Asn620fs)	RPS6KA3 (N620fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 521533	NM_004586.3(RPS6KA3):c.1699C>T (p.Gln567Ter)	RPS6KA3 (Q567*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2291663	NM_004586.3(RPS6KA3):c.1672C>T (p.Arg558Ter)	RPS6KA3 (R558*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 521312	NM_004586.3(RPS6KA3):c.1633A>G (p.Ile545Val)	RPS6KA3 (I545V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 986010	NM_004586.3(RPS6KA3):c.1612del (p.Arg538fs)	RPS6KA3 (R538fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2260684	NM_004586.3(RPS6KA3):c.1594G>A (p.Ala532Thr)	RPS6KA3 (A532T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 523475	NM_004586.3(RPS6KA3):c.1522C>T (p.Gln508Ter)	RPS6KA3 (Q508*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +7 more	GPathogenic
Select item 588167	NM_004586.3(RPS6KA3):c.1380A>G (p.Pro460=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1348599	NM_004586.3(RPS6KA3):c.1269A>T (p.Glu423Asp)	RPS6KA3 (E423D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 436558	NM_004586.3(RPS6KA3):c.1242C>T (p.Asn414=)	RPS6KA3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 2198989	NM_004586.3(RPS6KA3):c.1219A>G (p.Ile407Val)	RPS6KA3 (I407V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 767319	NM_004586.3(RPS6KA3):c.1212A>G (p.Val404=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 589297	NM_004586.3(RPS6KA3):c.1143T>C (p.Leu381=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 588901	NM_004586.3(RPS6KA3):c.1086T>C (p.Thr362=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 588089	NM_004586.3(RPS6KA3):c.1080G>A (p.Glu360=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2478975	NM_004586.3(RPS6KA3):c.1034A>C (p.Lys345Thr)	RPS6KA3 (K345T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 588482	NM_004586.3(RPS6KA3):c.1023T>C (p.His341=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
Select item 1765232	NM_004586.3(RPS6KA3):c.894T>C (p.Leu298=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 985772	NM_004586.3(RPS6KA3):c.890G>A (p.Ser297Asn)	RPS6KA3 (S297N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 95152	NM_004586.3(RPS6KA3):c.798C>A (p.Leu266=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Coffin-Lowry syndrome +4 more	GBenign
Select item 985882	NM_004586.3(RPS6KA3):c.774+1G>A	RPS6KA3	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GPathogenic
Select item 803733	NM_004586.3(RPS6KA3):c.748G>A (p.Asp250Asn)	RPS6KA3 (D250N)	Single nucleotide variant (missense variant)	Coffin-Lowry syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3315319	NM_004586.3(RPS6KA3):c.731_739delinsT (p.Gly244fs)	RPS6KA3 (G244fs)	Indel (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2401294	NM_004586.3(RPS6KA3):c.736A>G (p.Thr246Ala)	RPS6KA3 (T246A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 522031	NM_004586.3(RPS6KA3):c.712G>T (p.Glu238Ter)	RPS6KA3 (E238*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 95150	NM_004586.3(RPS6KA3):c.632-1G>C	RPS6KA3	Single nucleotide variant (splice acceptor variant)	Coffin-Lowry syndrome +2 more	GPathogenic/Likely pathogenic
Select item 593642	NM_004586.3(RPS6KA3):c.594-10dup	RPS6KA3	Duplication (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1749931	NM_004586.3(RPS6KA3):c.582A>G (p.Leu194=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 985093	NM_004586.3(RPS6KA3):c.486G>A (p.Glu162=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GPathogenic
Select item 521925	NM_004586.3(RPS6KA3):c.326-11A>G	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1798275	NM_004586.3(RPS6KA3):c.296T>C (p.Met99Thr)	RPS6KA3 (M99T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 500983	NM_004586.3(RPS6KA3):c.244-5T>C	RPS6KA3	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 19 +4 more	GBenign/Likely benign
Select item 212069	NM_004586.3(RPS6KA3):c.213A>G (p.Leu71=)	RPS6KA3	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 1305045	NM_004586.3(RPS6KA3):c.137G>A (p.Ser46Asn)	RPS6KA3 (S46N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 95147	NM_004586.3(RPS6KA3):c.113T>G (p.Ile38Ser)	RPS6KA3 (I38S)	Single nucleotide variant (missense variant)	Coffin-Lowry syndrome +4 more	GBenign
Select item 2621617	NM_004586.3(RPS6KA3):c.7C>G (p.Leu3Val)	LOC130068032, RPS6KA3 (L3V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1756616	NM_004586.3(RPS6KA3):c.-6G>A	RPS6KA3	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance

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Items: 47