"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "RPS6KA3 - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2057737	NM_004586.3(RPS6KA3):c.2205C>T (p.Ile735=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 19 +1 more	GLikely benign
Select item 709385	NM_004586.3(RPS6KA3):c.2193T>C (p.Gly731=)	RPS6KA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 212070	NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His)	RPS6KA3 (R723H)	Single nucleotide variant (missense variant)	Coffin-Lowry syndrome +4 more	GBenign/Likely benign
Select item 1476999	NM_004586.3(RPS6KA3):c.2142_2145dup (p.Pro716fs)	RPS6KA3 (P716fs)	Duplication (frameshift variant)	Coffin-Lowry syndrome +1 more	GPathogenic
Select item 2109404	NM_004586.3(RPS6KA3):c.2142G>A (p.Gln714=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Coffin-Lowry syndrome +1 more	GBenign
Select item 2930243	NM_004586.3(RPS6KA3):c.2118A>G (p.Thr706=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Coffin-Lowry syndrome +1 more	GLikely benign
Select item 2949567	NM_004586.3(RPS6KA3):c.2101-19C>A	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GLikely benign
Select item 2414340	NM_004586.3(RPS6KA3):c.2100+15A>G	RPS6KA3	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 19 +1 more	GLikely benign
Select item 2420432	NM_004586.3(RPS6KA3):c.2100+5G>A	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GUncertain significance
Select item 2949172	NM_004586.3(RPS6KA3):c.2095G>A (p.Val699Ile)	RPS6KA3 (V699I)	Single nucleotide variant (missense variant)	Coffin-Lowry syndrome +1 more	GUncertain significance
Select item 2951625	NM_004586.3(RPS6KA3):c.2093dup (p.Val699fs)	RPS6KA3 (V699fs)	Duplication (frameshift variant)	Coffin-Lowry syndrome +1 more	GPathogenic
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 1958731	NM_004586.3(RPS6KA3):c.2037C>T (p.Ile679=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 19 +1 more	GLikely benign
Select item 2074256	NM_004586.3(RPS6KA3):c.2022C>T (p.Leu674=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Coffin-Lowry syndrome +1 more	GBenign
Select item 2138486	NM_004586.3(RPS6KA3):c.2005_2008del (p.Thr669fs)	RPS6KA3 (T669fs)	Microsatellite (frameshift variant)	Coffin-Lowry syndrome +1 more	GPathogenic
Select item 2951274	NM_004586.3(RPS6KA3):c.2000G>A (p.Arg667Lys)	RPS6KA3 (R667K)	Single nucleotide variant (missense variant)	Coffin-Lowry syndrome +1 more	GUncertain significance
Select item 652883	NM_004586.3(RPS6KA3):c.1996C>T (p.Gln666Ter)	RPS6KA3 (Q666*)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 19 +1 more	GPathogenic
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 449093	NM_004586.3(RPS6KA3):c.1960-3C>T	RPS6KA3	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 1992613	NM_004586.3(RPS6KA3):c.1960-16A>T	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GLikely benign
Select item 2923588	NM_004586.3(RPS6KA3):c.1959+17A>C	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GLikely benign
Select item 2929448	NM_004586.3(RPS6KA3):c.1952C>T (p.Thr651Ile)	RPS6KA3 (T651I)	Single nucleotide variant (missense variant)	Coffin-Lowry syndrome +1 more	GUncertain significance
Select item 2075075	NM_004586.3(RPS6KA3):c.1920C>T (p.Leu640=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Coffin-Lowry syndrome +1 more	GLikely benign
Select item 426465	NM_004586.3(RPS6KA3):c.1894C>T (p.Arg632Ter)	RPS6KA3 (R632*)	Single nucleotide variant (nonsense)	not provided +2 more	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 1511435	NM_004586.3(RPS6KA3):c.1858A>G (p.Asn620Asp)	RPS6KA3 (N620D)	Single nucleotide variant (missense variant)	Coffin-Lowry syndrome +1 more	GUncertain significance
Select item 2924003	NM_004586.3(RPS6KA3):c.1851A>G (p.Pro617=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Coffin-Lowry syndrome +1 more	GLikely benign
Select item 566835	NM_004586.3(RPS6KA3):c.1845del (p.Gly614_Tyr615insTer)	RPS6KA3	Deletion (nonsense)	Coffin-Lowry syndrome +1 more	GPathogenic
Select item 2064860	NM_004586.3(RPS6KA3):c.1842-7A>G	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GBenign
Select item 2935685	NM_004586.3(RPS6KA3):c.1842-20T>C	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GLikely benign
Select item 2050023	NM_004586.3(RPS6KA3):c.1814G>A (p.Gly605Asp)	RPS6KA3 (G605D)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 19 +1 more	GPathogenic
Select item 945691	NM_004586.3(RPS6KA3):c.1765-2A>C	RPS6KA3	Single nucleotide variant (splice acceptor variant)	Coffin-Lowry syndrome +1 more	GPathogenic
Select item 2922319	NM_004586.3(RPS6KA3):c.1762G>A (p.Glu588Lys)	RPS6KA3 (E588K)	Single nucleotide variant (missense variant)	Coffin-Lowry syndrome +1 more	GUncertain significance
Select item 2660140	NM_004586.3(RPS6KA3):c.1710G>A (p.Ala570=)	RPS6KA3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2922599	NM_004586.3(RPS6KA3):c.1662G>A (p.Pro554=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Coffin-Lowry syndrome +1 more	GBenign
Select item 579151	NM_004586.3(RPS6KA3):c.1603-5A>G	RPS6KA3	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2027442	NM_004586.3(RPS6KA3):c.1603-19T>G	RPS6KA3	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 19 +1 more	GLikely benign
Select item 1960371	NM_004586.3(RPS6KA3):c.1602+17C>T	RPS6KA3	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 19 +1 more	GLikely benign
Select item 2932880	NM_004586.3(RPS6KA3):c.1602+13A>C	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GLikely benign
Select item 2108477	NM_004586.3(RPS6KA3):c.1602+2dup	RPS6KA3	Duplication (splice donor variant)	Coffin-Lowry syndrome +1 more	GPathogenic
Select item 1475573	NM_004586.3(RPS6KA3):c.1602+2del	RPS6KA3	Deletion (splice donor variant)	Coffin-Lowry syndrome +1 more	GLikely pathogenic
Select item 2160353	NM_004586.3(RPS6KA3):c.1593C>T (p.His531=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 19 +1 more	GBenign
Select item 2944446	NM_004586.3(RPS6KA3):c.1566_1567insTG (p.Ile523Ter)	RPS6KA3 (I523*)	Insertion (nonsense)	Coffin-Lowry syndrome +1 more	GPathogenic
Select item 2930383	NM_004586.3(RPS6KA3):c.1483C>A (p.Leu495Ile)	RPS6KA3 (L495I)	Single nucleotide variant (missense variant)	Coffin-Lowry syndrome +1 more	GConflicting classifications of pathogenicity
Select item 742509	NM_004586.3(RPS6KA3):c.1467G>A (p.Val489=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 19 +1 more	GLikely benign
Select item 2417116	NM_004586.3(RPS6KA3):c.1446A>C (p.Val482=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 19 +1 more	GBenign
Select item 779552	NM_004586.3(RPS6KA3):c.1444-4A>T	RPS6KA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 436557	NM_004586.3(RPS6KA3):c.1444-5T>C	RPS6KA3	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2950782	NM_004586.3(RPS6KA3):c.1422A>G (p.Pro474=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Coffin-Lowry syndrome +1 more	GLikely benign
Select item 2184460	NM_004586.3(RPS6KA3):c.1413A>G (p.Gly471=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Coffin-Lowry syndrome +1 more	GLikely benign
Select item 1912761	NM_004586.3(RPS6KA3):c.1402C>G (p.Leu468Val)	RPS6KA3 (L468V)	Single nucleotide variant (missense variant)	Coffin-Lowry syndrome +1 more	GUncertain significance
Select item 2950187	NM_004586.3(RPS6KA3):c.1377C>T (p.Asp459=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Coffin-Lowry syndrome +1 more	GLikely benign
Select item 1509111	NM_004586.3(RPS6KA3):c.1362T>G (p.Asp454Glu)	RPS6KA3 (D454E)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 19 +2 more	GConflicting classifications of pathogenicity
Select item 2936279	NM_004586.3(RPS6KA3):c.1354-15A>G	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GLikely benign
Select item 2137368	NM_004586.3(RPS6KA3):c.1354-17A>C	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GLikely benign
Select item 1623551	NM_004586.3(RPS6KA3):c.1353+13dup	RPS6KA3	Duplication (intron variant)	Coffin-Lowry syndrome +1 more	GBenign
Select item 2925309	NM_004586.3(RPS6KA3):c.1353+6T>A	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GUncertain significance
Select item 2046723	NM_004586.3(RPS6KA3):c.1353+5A>T	RPS6KA3	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 19 +1 more	GBenign
Select item 2937146	NM_004586.3(RPS6KA3):c.1336A>G (p.Met446Val)	RPS6KA3 (M446V)	Single nucleotide variant (missense variant)	Coffin-Lowry syndrome +1 more	GUncertain significance
Select item 2048590	NM_004586.3(RPS6KA3):c.1296C>T (p.Ser432=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 19 +1 more	GBenign
Select item 1717062	NM_004586.3(RPS6KA3):c.1291G>T (p.Gly431Cys)	RPS6KA3 (G431C)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 19 +1 more	GUncertain significance
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 2049260	NM_004586.3(RPS6KA3):c.1248T>G (p.Ile416Met)	RPS6KA3 (I416M)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 19 +1 more	GBenign
Select item 1192861	NM_004586.3(RPS6KA3):c.1246A>G (p.Ile416Val)	RPS6KA3 (I416V)	Single nucleotide variant (missense variant)	Coffin-Lowry syndrome +2 more	GBenign/Likely benign
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 2930854	NM_004586.3(RPS6KA3):c.1227+18T>C	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GLikely benign
Select item 2051402	NM_004586.3(RPS6KA3):c.1227+14T>C	RPS6KA3	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 19 +1 more	GLikely benign
Select item 2950186	NM_004586.3(RPS6KA3):c.1227+7G>A	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GLikely 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 971974	NM_004586.3(RPS6KA3):c.1151G>T (p.Gly384Val)	RPS6KA3 (G384V)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 19 +1 more	GUncertain significance
Select item 2935349	NM_004586.3(RPS6KA3):c.1103-10C>T	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GBenign
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 2946929	NM_004586.3(RPS6KA3):c.1062A>G (p.Thr354=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Coffin-Lowry syndrome +1 more	GLikely benign
Select item 2186369	NM_004586.3(RPS6KA3):c.1038T>C (p.Pro346=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 19 +1 more	GLikely benign
Select item 2934795	NM_004586.3(RPS6KA3):c.1029A>G (p.Pro343=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Coffin-Lowry syndrome +1 more	GBenign
Select item 2930779	NM_004586.3(RPS6KA3):c.1026G>A (p.Pro342=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Coffin-Lowry syndrome +1 more	GBenign
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 842764	NM_004586.3(RPS6KA3):c.1004T>C (p.Leu335Pro)	RPS6KA3 (L335P)	Single nucleotide variant (missense variant)	Coffin-Lowry syndrome +1 more	GUncertain significance
Select item 459261	NM_004586.3(RPS6KA3):c.1000-7C>T	RPS6KA3	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 19 +1 more	GLikely benign
Select item 2934693	NM_004586.3(RPS6KA3):c.1000-8C>T	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GLikely benign
Select item 597225	NM_004586.3(RPS6KA3):c.1000-19dup	RPS6KA3	Duplication (intron variant)	Coffin-Lowry syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2065632	NM_004586.3(RPS6KA3):c.1000-10T>C	RPS6KA3	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 19 +1 more	GLikely benign
Select item 1646062	NM_004586.3(RPS6KA3):c.1000-10del	RPS6KA3	Deletion (intron variant)	Coffin-Lowry syndrome +1 more	GBenign
Select item 2924375	NM_004586.3(RPS6KA3):c.1000-18T>C	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GLikely benign
Select item 860809	NM_004586.3(RPS6KA3):c.999+2dup	RPS6KA3	Duplication (splice donor variant)	Coffin-Lowry syndrome +1 more	GUncertain significance
Select item 1561527	NM_004586.3(RPS6KA3):c.987G>A (p.Thr329=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Coffin-Lowry syndrome +1 more	GBenign
Select item 740761	NM_004586.3(RPS6KA3):c.960A>G (p.Glu320=)	RPS6KA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2950102	NM_004586.3(RPS6KA3):c.955G>T (p.Glu319Ter)	RPS6KA3 (E319*)	Single nucleotide variant (nonsense)	Coffin-Lowry syndrome +1 more	GPathogenic
Select item 2952385	NM_004586.3(RPS6KA3):c.934+14_934+17del	RPS6KA3	Deletion (intron variant)	Intellectual disability, X-linked 19 +1 more	GLikely benign
Select item 225519	NM_004586.3(RPS6KA3):c.913C>T (p.Arg305Ter)	RPS6KA3 (R305*)	Single nucleotide variant (nonsense)	Coffin-Lowry syndrome +2 more	GPathogenic
Select item 816947	NM_004586.3(RPS6KA3):c.898C>T (p.Arg300Ter)	RPS6KA3 (R300*)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 19 +2 more	GPathogenic
Select item 2102070	NM_004586.3(RPS6KA3):c.885G>A (p.Ala295=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Coffin-Lowry syndrome +1 more	GBenign
Select item 2944367	NM_004586.3(RPS6KA3):c.877C>G (p.Pro293Ala)	RPS6KA3 (P293A)	Single nucleotide variant (missense variant)	Coffin-Lowry syndrome +1 more	GLikely benign
Select item 1717414	NM_004586.3(RPS6KA3):c.846A>C (p.Lys282Asn)	RPS6KA3 (K282N)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 19 +1 more	GUncertain significance
Select item 735156	NM_004586.3(RPS6KA3):c.846-6A>G	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GBenign
Select item 2183003	NM_004586.3(RPS6KA3):c.846-13A>G	RPS6KA3	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 19 +1 more	GLikely benign
Select item 1980720	NM_004586.3(RPS6KA3):c.845+10C>T	RPS6KA3	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 19 +1 more	GBenign
Select item 2138487	NM_004586.3(RPS6KA3):c.845+5G>A	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GPathogenic

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