ClinVar for MedGen (Select 208676) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 193

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382821	NM_004586.3(RPS6KA3):c.2162T>G (p.Val721Gly)	RPS6KA3 (V721G)	Single nucleotide variant (missense variant)	Coffin-Lowry syndrome +1 more	GUncertain significance
Select item 3382009	NM_004586.3(RPS6KA3):c.5_13del (p.Pro2_Ala4del)	LOC130068032, RPS6KA3	Deletion (inframe_deletion +1 more)	Intellectual disability, X-linked 19 +1 more	GUncertain significance
Select item 3258099	NM_004586.3(RPS6KA3):c.598C>T (p.Leu200Phe)	RPS6KA3 (L200F)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 19	GUncertain significance
Select item 3243878	NC_000023.10:g.(?_20173516)_(20213283_?)dup	RPS6KA3	Duplication	Coffin-Lowry syndrome +1 more	GUncertain significance
Select item 3243867	NC_000023.10:g.(?_17393881)_(20284750_?)del	ADGRG2, BCLAF3 +15 more	Deletion	Coffin-Lowry syndrome +5 more	GPathogenic
Select item 3024302	NM_004586.3(RPS6KA3):c.1148G>C (p.Arg383Pro)	RPS6KA3 (R383P)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 19 +1 more	GUncertain significance
Select item 2953019	NM_004586.3(RPS6KA3):c.594-18T>C	RPS6KA3	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 19 +1 more	GLikely benign
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 2952379	NM_004586.3(RPS6KA3):c.840_845+3del	RPS6KA3	Deletion (splice donor variant)	Intellectual disability, X-linked 19 +1 more	GLikely pathogenic
Select item 2951625	NM_004586.3(RPS6KA3):c.2093dup (p.Val699fs)	RPS6KA3 (V699fs)	Duplication (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 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 2950599	NM_004586.3(RPS6KA3):c.318A>G (p.Thr106=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Coffin-Lowry syndrome +1 more	GLikely benign
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 2950186	NM_004586.3(RPS6KA3):c.1227+7G>A	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	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 2949567	NM_004586.3(RPS6KA3):c.2101-19C>A	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GLikely benign
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 2948948	NM_004586.3(RPS6KA3):c.127-19C>G	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GLikely benign
Select item 2948296	NM_004586.3(RPS6KA3):c.244-7A>C	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GLikely 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 2944446	NM_004586.3(RPS6KA3):c.1566_1567insTG (p.Ile523Ter)	RPS6KA3 (I523*)	Insertion (nonsense)	Coffin-Lowry syndrome +1 more	GPathogenic
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 2944359	NM_004586.3(RPS6KA3):c.300G>T (p.Lys100Asn)	RPS6KA3 (K100N)	Single nucleotide variant (missense variant)	Coffin-Lowry syndrome +1 more	GUncertain significance
Select item 2940405	NM_004586.3(RPS6KA3):c.593+16A>G	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GBenign
Select item 2940404	NM_004586.3(RPS6KA3):c.765T>A (p.Gly255=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Coffin-Lowry syndrome +1 more	GLikely benign
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 2936952	NM_004586.3(RPS6KA3):c.243+6T>G	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GUncertain significance
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 2935955	NM_004586.3(RPS6KA3):c.326-20A>C	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GLikely benign
Select item 2935829	NM_004586.3(RPS6KA3):c.426G>A (p.Lys142=)	RPS6KA3	Single nucleotide variant (synonymous 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 2935349	NM_004586.3(RPS6KA3):c.1103-10C>T	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GBenign
Select item 2934962	NM_004586.3(RPS6KA3):c.244-17C>T	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GLikely benign
Select item 2934809	NM_004586.3(RPS6KA3):c.406+12C>A	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GBenign
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 2934693	NM_004586.3(RPS6KA3):c.1000-8C>T	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +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 2931774	NM_004586.3(RPS6KA3):c.304T>C (p.Leu102=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Coffin-Lowry syndrome +1 more	GBenign
Select item 2931283	NM_004586.3(RPS6KA3):c.631+12del	RPS6KA3	Deletion (intron variant)	Coffin-Lowry syndrome +1 more	GBenign
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 2930779	NM_004586.3(RPS6KA3):c.1026G>A (p.Pro342=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Coffin-Lowry syndrome +1 more	GBenign
Select item 2930428	NM_004586.3(RPS6KA3):c.486+20T>G	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GLikely benign
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 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 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 2929433	NM_004586.3(RPS6KA3):c.593+7A>C	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GLikely benign
Select item 2929399	NM_004586.3(RPS6KA3):c.244-20T>C	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GLikely benign
Select item 2928365	NM_004586.3(RPS6KA3):c.618C>T (p.His206=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Coffin-Lowry syndrome +1 more	GBenign
Select item 2926450	NM_004586.3(RPS6KA3):c.406+14G>A	RPS6KA3	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 19 +1 more	GLikely benign
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 2924375	NM_004586.3(RPS6KA3):c.1000-18T>C	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GLikely benign
Select item 2924229	NM_004586.3(RPS6KA3):c.325+16A>G	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GLikely benign
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 2923588	NM_004586.3(RPS6KA3):c.1959+17A>C	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GLikely 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 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 2431747	NM_004586.3(RPS6KA3):c.2100+10C>T	RPS6KA3	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 19	GUncertain significance
Select item 2425180	NC_000023.10:g.(?_20173516)_(20252952_?)dup	RPS6KA3	Duplication	Coffin-Lowry syndrome +1 more	GUncertain significance
Select item 2425179	NC_000023.10:g.(?_20173516)_(20195222_?)dup	RPS6KA3	Duplication	Coffin-Lowry syndrome +1 more	GUncertain significance
Select item 2425178	NC_000023.10:g.(?_20173516)_(20174387_?)del	RPS6KA3	Deletion	Coffin-Lowry syndrome +1 more	GPathogenic
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 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 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 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 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 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 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 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 2155003	NM_004586.3(RPS6KA3):c.406+13C>T	RPS6KA3	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 19 +1 more	GBenign
Select item 2141363	NM_004586.3(RPS6KA3):c.775-17A>G	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GLikely benign
Select item 2138487	NM_004586.3(RPS6KA3):c.845+5G>A	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GPathogenic
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 2137368	NM_004586.3(RPS6KA3):c.1354-17A>C	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GLikely benign
Select item 2135076	NM_004586.3(RPS6KA3):c.325+6T>A	RPS6KA3	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 19 +1 more	GUncertain significance
Select item 2119951	NM_004586.3(RPS6KA3):c.771A>G (p.Leu257=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Coffin-Lowry syndrome +1 more	GLikely benign
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 2108477	NM_004586.3(RPS6KA3):c.1602+2dup	RPS6KA3	Duplication (splice donor variant)	Coffin-Lowry syndrome +1 more	GPathogenic
Select item 2106659	NM_004586.3(RPS6KA3):c.709C>T (p.Pro237Ser)	RPS6KA3 (P237S)	Single nucleotide variant (missense variant)	Coffin-Lowry syndrome +1 more	GPathogenic
Select item 2104744	NM_004586.3(RPS6KA3):c.341G>A (p.Arg114Gln)	RPS6KA3 (R114Q)	Single nucleotide variant (missense variant)	Coffin-Lowry syndrome +1 more	GUncertain significance
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 2079036	NM_004586.3(RPS6KA3):c.83T>C (p.Ile28Thr)	RPS6KA3 (I28T)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 19 +2 more	GConflicting classifications of pathogenicity
Select item 2078961	NM_004586.3(RPS6KA3):c.243+19C>T	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GLikely benign
Select item 2077638	NM_004586.3(RPS6KA3):c.124A>G (p.Thr42Ala)	RPS6KA3 (T42A)	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 2074256	NM_004586.3(RPS6KA3):c.2022C>T (p.Leu674=)	RPS6KA3	Single nucleotide variant (synonymous variant)	Coffin-Lowry syndrome +1 more	GBenign
Select item 2068057	NM_004586.3(RPS6KA3):c.126+19C>T	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GLikely benign
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 2064860	NM_004586.3(RPS6KA3):c.1842-7A>G	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GBenign
Select item 2064145	NM_004586.3(RPS6KA3):c.70-19C>A	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GLikely benign
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 2053742	NM_004586.3(RPS6KA3):c.126+13T>C	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GBenign
Select item 2053657	NM_004586.3(RPS6KA3):c.51C>T (p.Ser17=)	LOC130068032, RPS6KA3	Single nucleotide variant (synonymous variant)	not specified +2 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 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 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 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 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 2037128	NM_004586.3(RPS6KA3):c.70-20G>A	RPS6KA3	Single nucleotide variant (intron variant)	Coffin-Lowry syndrome +1 more	GBenign

<< First< Prev

Page of 2