ClinVar for MedGen (Select 75556) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 1 to 100 of 170

<< First< Prev

Page of 2

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25765911.	NM_004586.3(RPS6KA3):c.406+1G>T GRCh37: ChrX:20213182 GRCh38: ChrX:20195064	RPS6KA3		Coffin-Lowry syndrome	Likely pathogenic (Aug 11, 2023)	criteria provided, single submitter
Select item 25052512.	NM_004586.3(RPS6KA3):c.407-1G>T GRCh37: ChrX:20212387 GRCh38: ChrX:20194269	RPS6KA3		Coffin-Lowry syndrome	Pathogenic (Jan 30, 2023)	criteria provided, single submitter
Select item 24995963.	NM_004586.3(RPS6KA3):c.2101-2A>G GRCh37: ChrX:20173640 GRCh38: ChrX:20155522	RPS6KA3		Coffin-Lowry syndrome	Pathogenic (Apr 20, 2023)	criteria provided, single submitter
Select item 24441624.	NM_004586.3(RPS6KA3):c.2204T>A (p.Ile735Asn) GRCh37: ChrX:20173535 GRCh38: ChrX:20155417	RPS6KA3	I735N	Coffin-Lowry syndrome	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24251805.	NC_000023.10:g.(?_20173516)_(20252952_?)dup GRCh37: ChrX:20173516-20252952	RPS6KA3		Coffin-Lowry syndrome, Intellectual disability, X-linked 19	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 24251796.	NC_000023.10:g.(?_20173516)_(20195222_?)dup GRCh37: ChrX:20173516-20195222	RPS6KA3		Coffin-Lowry syndrome, Intellectual disability, X-linked 19	Uncertain significance (Aug 8, 2021)	criteria provided, single submitter
Select item 24251787.	NC_000023.10:g.(?_20173516)_(20174387_?)del GRCh37: ChrX:20173516-20174387	RPS6KA3		Coffin-Lowry syndrome, Intellectual disability, X-linked 19	Pathogenic (Dec 1, 2021)	criteria provided, single submitter
Select item 24204328.	NM_004586.3(RPS6KA3):c.2100+5G>A GRCh37: ChrX:20174222 GRCh38: ChrX:20156104	RPS6KA3		Coffin-Lowry syndrome, Intellectual disability, X-linked 19	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 24171169.	NM_004586.3(RPS6KA3):c.1446A>C (p.Val482=) GRCh37: ChrX:20185863 GRCh38: ChrX:20167745	RPS6KA3		Coffin-Lowry syndrome, Intellectual disability, X-linked 19	Benign (Aug 19, 2022)	criteria provided, single submitter
Select item 241434010.	NM_004586.3(RPS6KA3):c.2100+15A>G GRCh37: ChrX:20174212 GRCh38: ChrX:20156094	RPS6KA3		Coffin-Lowry syndrome, Intellectual disability, X-linked 19	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 219898911.	NM_004586.3(RPS6KA3):c.1219A>G (p.Ile407Val) GRCh37: ChrX:20193290 GRCh38: ChrX:20175172	RPS6KA3	I407V	Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Benign (Mar 12, 2022)	criteria provided, single submitter
Select item 218636912.	NM_004586.3(RPS6KA3):c.1038T>C (p.Pro346=) GRCh37: ChrX:20194432 GRCh38: ChrX:20176314	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 218446013.	NM_004586.3(RPS6KA3):c.1413A>G (p.Gly471=) GRCh37: ChrX:20187550 GRCh38: ChrX:20169432	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 218300314.	NM_004586.3(RPS6KA3):c.846-13A>G GRCh37: ChrX:20195215 GRCh38: ChrX:20177097	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 216035315.	NM_004586.3(RPS6KA3):c.1593C>T (p.His531=) GRCh37: ChrX:20185716 GRCh38: ChrX:20167598	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Benign (Dec 23, 2021)	criteria provided, single submitter
Select item 215500316.	NM_004586.3(RPS6KA3):c.406+13C>T GRCh37: ChrX:20213170 GRCh38: ChrX:20195052	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Benign (May 13, 2022)	criteria provided, single submitter
Select item 214136317.	NM_004586.3(RPS6KA3):c.775-17A>G GRCh37: ChrX:20204501 GRCh38: ChrX:20186383	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 213848718.	NM_004586.3(RPS6KA3):c.845+5G>A GRCh37: ChrX:20204409 GRCh38: ChrX:20186291	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Pathogenic (Jul 18, 2022)	criteria provided, single submitter
Select item 213848619.	NM_004586.3(RPS6KA3):c.2005_2008del (p.Thr669fs) GRCh37: ChrX:20174319-20174322 GRCh38: ChrX:20156201-20156204	RPS6KA3	T669fs	Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Pathogenic (May 20, 2022)	criteria provided, single submitter
Select item 213736820.	NM_004586.3(RPS6KA3):c.1354-17A>C GRCh37: ChrX:20187626 GRCh38: ChrX:20169508	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Likely benign (Apr 13, 2022)	criteria provided, single submitter
Select item 213507621.	NM_004586.3(RPS6KA3):c.325+6T>A GRCh37: ChrX:20222134 GRCh38: ChrX:20204016	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 211995122.	NM_004586.3(RPS6KA3):c.771A>G (p.Leu257=) GRCh37: ChrX:20205949 GRCh38: ChrX:20187831	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Likely benign (Mar 31, 2022)	criteria provided, single submitter
Select item 210940423.	NM_004586.3(RPS6KA3):c.2142G>A (p.Gln714=) GRCh37: ChrX:20173597 GRCh38: ChrX:20155479	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Benign (Apr 20, 2022)	criteria provided, single submitter
Select item 210847724.	NM_004586.3(RPS6KA3):c.1602+2dup GRCh37: ChrX:20185704-20185705 GRCh38: ChrX:20167586-20167587	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Pathogenic (Apr 11, 2022)	criteria provided, single submitter
Select item 210665925.	NM_004586.3(RPS6KA3):c.709C>T (p.Pro237Ser) GRCh37: ChrX:20206011 GRCh38: ChrX:20187893	RPS6KA3	P237S	Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Pathogenic (Jun 2, 2022)	criteria provided, single submitter
Select item 210474426.	NM_004586.3(RPS6KA3):c.341G>A (p.Arg114Gln) GRCh37: ChrX:20213248 GRCh38: ChrX:20195130	RPS6KA3	R114Q	Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 210207027.	NM_004586.3(RPS6KA3):c.885G>A (p.Ala295=) GRCh37: ChrX:20195163 GRCh38: ChrX:20177045	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Benign (Jul 15, 2022)	criteria provided, single submitter
Select item 207903628.	NM_004586.3(RPS6KA3):c.83T>C (p.Ile28Thr) GRCh37: ChrX:20252919 GRCh38: ChrX:20234801	RPS6KA3	I28T	Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 207896129.	NM_004586.3(RPS6KA3):c.243+19C>T GRCh37: ChrX:20227387 GRCh38: ChrX:20209269	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 207763830.	NM_004586.3(RPS6KA3):c.124A>G (p.Thr42Ala) GRCh37: ChrX:20252878 GRCh38: ChrX:20234760	RPS6KA3	T42A	Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Uncertain significance (Jan 10, 2022)	criteria provided, single submitter
Select item 207507531.	NM_004586.3(RPS6KA3):c.1920C>T (p.Leu640=) GRCh37: ChrX:20179801 GRCh38: ChrX:20161683	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 207425632.	NM_004586.3(RPS6KA3):c.2022C>T (p.Leu674=) GRCh37: ChrX:20174305 GRCh38: ChrX:20156187	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Benign (Oct 13, 2022)	criteria provided, single submitter
Select item 206805733.	NM_004586.3(RPS6KA3):c.126+19C>T GRCh37: ChrX:20252857 GRCh38: ChrX:20234739	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 206563234.	NM_004586.3(RPS6KA3):c.1000-10T>C GRCh37: ChrX:20194480 GRCh38: ChrX:20176362	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 206486035.	NM_004586.3(RPS6KA3):c.1842-7A>G GRCh37: ChrX:20179886 GRCh38: ChrX:20161768	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Benign (Sep 2, 2022)	criteria provided, single submitter
Select item 206414536.	NM_004586.3(RPS6KA3):c.70-19C>A GRCh37: ChrX:20252951 GRCh38: ChrX:20234833	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 205773737.	NM_004586.3(RPS6KA3):c.2205C>T (p.Ile735=) GRCh37: ChrX:20173534 GRCh38: ChrX:20155416	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 205374238.	NM_004586.3(RPS6KA3):c.126+13T>C GRCh37: ChrX:20252863 GRCh38: ChrX:20234745	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Benign (Jun 10, 2022)	criteria provided, single submitter
Select item 205365739.	NM_004586.3(RPS6KA3):c.51C>T (p.Ser17=) GRCh37: ChrX:20284700 GRCh38: ChrX:20266582	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 205140240.	NM_004586.3(RPS6KA3):c.1227+14T>C GRCh37: ChrX:20193268 GRCh38: ChrX:20175150	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 205002341.	NM_004586.3(RPS6KA3):c.1814G>A (p.Gly605Asp) GRCh37: ChrX:20181109 GRCh38: ChrX:20162991	RPS6KA3	G605D	Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Pathogenic (Feb 22, 2022)	criteria provided, single submitter
Select item 204926042.	NM_004586.3(RPS6KA3):c.1248T>G (p.Ile416Met) GRCh37: ChrX:20190969 GRCh38: ChrX:20172851	RPS6KA3	I416M	Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Benign (Feb 8, 2022)	criteria provided, single submitter
Select item 204859043.	NM_004586.3(RPS6KA3):c.1296C>T (p.Ser432=) GRCh37: ChrX:20190921 GRCh38: ChrX:20172803	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Benign (Oct 4, 2022)	criteria provided, single submitter
Select item 204672344.	NM_004586.3(RPS6KA3):c.1353+5A>T GRCh37: ChrX:20190859 GRCh38: ChrX:20172741	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Benign (Sep 21, 2022)	criteria provided, single submitter
Select item 203712845.	NM_004586.3(RPS6KA3):c.70-20G>A GRCh37: ChrX:20252952 GRCh38: ChrX:20234834	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Benign (Jul 7, 2022)	criteria provided, single submitter
Select item 203338846.	NM_004586.3(RPS6KA3):c.244-4G>T GRCh37: ChrX:20222225 GRCh38: ChrX:20204107	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 202744247.	NM_004586.3(RPS6KA3):c.1603-19T>G GRCh37: ChrX:20183197 GRCh38: ChrX:20165079	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 202259948.	NM_004586.3(RPS6KA3):c.70-15C>T GRCh37: ChrX:20252947 GRCh38: ChrX:20234829	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Likely benign (Aug 17, 2022)	criteria provided, single submitter
Select item 201930549.	NM_004586.3(RPS6KA3):c.642A>G (p.Leu214=) GRCh37: ChrX:20206078 GRCh38: ChrX:20187960	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Benign (Jul 23, 2022)	criteria provided, single submitter
Select item 199261350.	NM_004586.3(RPS6KA3):c.1960-16A>T GRCh37: ChrX:20174383 GRCh38: ChrX:20156265	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Likely benign (May 10, 2022)	criteria provided, single submitter
Select item 198072051.	NM_004586.3(RPS6KA3):c.845+10C>T GRCh37: ChrX:20204404 GRCh38: ChrX:20186286	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Benign (Apr 10, 2022)	criteria provided, single submitter
Select item 196037152.	NM_004586.3(RPS6KA3):c.1602+17C>T GRCh37: ChrX:20185690 GRCh38: ChrX:20167572	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 195873153.	NM_004586.3(RPS6KA3):c.2037C>T (p.Ile679=) GRCh37: ChrX:20174290 GRCh38: ChrX:20156172	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 195701354.	NM_004586.3(RPS6KA3):c.631+17C>T GRCh37: ChrX:20206598 GRCh38: ChrX:20188480	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 194209855.	NM_004586.3(RPS6KA3):c.387T>C (p.Phe129=) GRCh37: ChrX:20213202 GRCh38: ChrX:20195084	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 191276156.	NM_004586.3(RPS6KA3):c.1402C>G (p.Leu468Val) GRCh37: ChrX:20187561 GRCh38: ChrX:20169443	RPS6KA3	L468V	Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Uncertain significance (Sep 25, 2022)	criteria provided, single submitter
Select item 180503657.	NM_004586.3(RPS6KA3):c.889_890del (p.Leu298fs) GRCh37: ChrX:20195158-20195159 GRCh38: ChrX:20177040-20177041	RPS6KA3	L298fs	Coffin-Lowry syndrome	Pathogenic (May 6, 2021)	criteria provided, single submitter
Select item 171741458.	NM_004586.3(RPS6KA3):c.846A>C (p.Lys282Asn) GRCh37: ChrX:20195202 GRCh38: ChrX:20177084	RPS6KA3	K282N	Coffin-Lowry syndrome, Intellectual disability, X-linked 19	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 171706259.	NM_004586.3(RPS6KA3):c.1291G>T (p.Gly431Cys) GRCh37: ChrX:20190926 GRCh38: ChrX:20172808	RPS6KA3	G431C	Coffin-Lowry syndrome, Intellectual disability, X-linked 19	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 170540060.	NM_004586.3(RPS6KA3):c.1960-6_1971del GRCh37: ChrX:20174356-20174373 GRCh38: ChrX:20156238-20156255	RPS6KA3		Coffin-Lowry syndrome	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170177061.	NM_004586.3(RPS6KA3):c.118C>G (p.Pro40Ala) GRCh37: ChrX:20252884 GRCh38: ChrX:20234766	RPS6KA3	P40A	Coffin-Lowry syndrome, Intellectual disability, X-linked 19	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 164606262.	NM_004586.3(RPS6KA3):c.1000-10del GRCh37: ChrX:20194480 GRCh38: ChrX:20176362	RPS6KA3		Coffin-Lowry syndrome, Intellectual disability, X-linked 19	Benign (Sep 27, 2022)	criteria provided, single submitter
Select item 162355163.	NM_004586.3(RPS6KA3):c.1353+13dup GRCh37: ChrX:20190850-20190851 GRCh38: ChrX:20172732-20172733	RPS6KA3		Coffin-Lowry syndrome, Intellectual disability, X-linked 19	Benign (Sep 30, 2022)	criteria provided, single submitter
Select item 159877564.	NM_004586.3(RPS6KA3):c.631+12dup GRCh37: ChrX:20206602-20206603 GRCh38: ChrX:20188484-20188485	RPS6KA3		not provided, Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Benign/Likely benign (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 157904165.	NM_004586.3(RPS6KA3):c.17T>C (p.Leu6Pro) GRCh37: ChrX:20284734 GRCh38: ChrX:20266616	RPS6KA3	L6P	not provided, Coffin-Lowry syndrome, Intellectual disability, X-linked 19	Conflicting interpretations of pathogenicity (Aug 22, 2022)	criteria provided, conflicting interpretations
Select item 157384166.	NM_004586.3(RPS6KA3):c.631+9A>C GRCh37: ChrX:20206606 GRCh38: ChrX:20188488	RPS6KA3		Coffin-Lowry syndrome, Intellectual disability, X-linked 19	Likely benign (Dec 15, 2021)	criteria provided, single submitter
Select item 156152767.	NM_004586.3(RPS6KA3):c.987G>A (p.Thr329=) GRCh37: ChrX:20194564 GRCh38: ChrX:20176446	RPS6KA3		Coffin-Lowry syndrome, Intellectual disability, X-linked 19	Benign (Jun 27, 2022)	criteria provided, single submitter
Select item 152902568.	NM_004586.3(RPS6KA3):c.406+11G>A GRCh37: ChrX:20213172 GRCh38: ChrX:20195054	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Likely benign (Feb 1, 2021)	criteria provided, single submitter
Select item 152802469.	NM_004586.3(RPS6KA3):c.631+18G>A GRCh37: ChrX:20206597 GRCh38: ChrX:20188479	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Benign (Oct 19, 2022)	criteria provided, single submitter
Select item 151143570.	NM_004586.3(RPS6KA3):c.1858A>G (p.Asn620Asp) GRCh37: ChrX:20179863 GRCh38: ChrX:20161745	RPS6KA3	N620D	Coffin-Lowry syndrome, Intellectual disability, X-linked 19	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 150911171.	NM_004586.3(RPS6KA3):c.1362T>G (p.Asp454Glu) GRCh37: ChrX:20187601 GRCh38: ChrX:20169483	RPS6KA3	D454E	Coffin-Lowry syndrome, Intellectual disability, X-linked 19, not provided	Uncertain significance (Nov 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 147699972.	NM_004586.3(RPS6KA3):c.2142_2145dup (p.Pro716fs) GRCh37: ChrX:20173593-20173594 GRCh38: ChrX:20155475-20155476	RPS6KA3	P716fs	Coffin-Lowry syndrome, Intellectual disability, X-linked 19	Likely pathogenic (Jun 8, 2022)	criteria provided, single submitter
Select item 147557373.	NM_004586.3(RPS6KA3):c.1602+2del GRCh37: ChrX:20185705 GRCh38: ChrX:20167587	RPS6KA3		Coffin-Lowry syndrome, Intellectual disability, X-linked 19	Likely pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 145525174.	NM_004586.3(RPS6KA3):c.770_773del (p.Leu257fs) GRCh37: ChrX:20205947-20205950 GRCh38: ChrX:20187829-20187832	RPS6KA3	L257fs	Coffin-Lowry syndrome, Intellectual disability, X-linked 19	Pathogenic (Apr 14, 2021)	criteria provided, single submitter
Select item 145183675.	NM_004586.3(RPS6KA3):c.740dup (p.Ser248fs) GRCh37: ChrX:20205979-20205980 GRCh38: ChrX:20187861-20187862	RPS6KA3	S248fs	Coffin-Lowry syndrome, Intellectual disability, X-linked 19	Pathogenic (Feb 13, 2021)	criteria provided, single submitter
Select item 138172776.	NM_004586.3(RPS6KA3):c.20C>G (p.Ala7Gly) GRCh37: ChrX:20284731 GRCh38: ChrX:20266613	RPS6KA3	A7G	Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 137831177.	NM_004586.3(RPS6KA3):c.772A>G (p.Met258Val) GRCh37: ChrX:20205948 GRCh38: ChrX:20187830	RPS6KA3	M258V	Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 134859978.	NM_004586.3(RPS6KA3):c.1269A>T (p.Glu423Asp) GRCh37: ChrX:20190948 GRCh38: ChrX:20172830	RPS6KA3	E423D	Coffin-Lowry syndrome, Intellectual disability, X-linked 19, Inborn genetic diseases	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134324279.	NM_004586.3(RPS6KA3):c.1022del (p.His341fs) GRCh37: ChrX:20194448 GRCh38: ChrX:20176330	RPS6KA3	H341fs	Coffin-Lowry syndrome	Likely pathogenic (Jan 14, 2022)	criteria provided, single submitter
Select item 133282180.	NM_004586.3(RPS6KA3):c.632-2A>C GRCh37: ChrX:20206090 GRCh38: ChrX:20187972	RPS6KA3		Coffin-Lowry syndrome	Pathogenic	criteria provided, single submitter
Select item 124734181.	NM_004586.3(RPS6KA3):c.2073C>T (p.Asn691=) GRCh37: ChrX:20174254 GRCh38: ChrX:20156136	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome, not provided, Inborn genetic diseases	Benign (Aug 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 124040382.	NM_004586.3(RPS6KA3):c.1460A>T (p.Lys487Met) GRCh37: ChrX:20185849 GRCh38: ChrX:20167731	RPS6KA3	K487M	Coffin-Lowry syndrome	Uncertain significance (Apr 10, 2020)	criteria provided, single submitter
Select item 118829083.	NM_004586.3(RPS6KA3):c.62G>T (p.Ser21Ile) GRCh37: ChrX:20284689 GRCh38: ChrX:20266571	RPS6KA3	S21I	not provided, Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Uncertain significance (Mar 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117451184.	NM_004586.3(RPS6KA3):c.1376A>T (p.Asp459Val) GRCh37: ChrX:20187587 GRCh38: ChrX:20169469	RPS6KA3	D459V	Coffin-Lowry syndrome	Likely pathogenic (May 20, 2021)	no assertion criteria provided
Select item 117449185.	NM_004586.3(RPS6KA3):c.443A>T (p.Asp148Val) GRCh37: ChrX:20212350 GRCh38: ChrX:20194232	RPS6KA3	D148V	Coffin-Lowry syndrome	Likely pathogenic (Feb 8, 2021)	no assertion criteria provided
Select item 116401686.	NM_004586.3(RPS6KA3):c.1152del (p.Phe385fs) GRCh37: ChrX:20193357 GRCh38: ChrX:20175239	RPS6KA3	F385fs	Coffin-Lowry syndrome	Pathogenic (May 13, 2021)	no assertion criteria provided
Select item 107435587.	NM_004586.3(RPS6KA3):c.251del (p.Phe83_Leu84insTer) GRCh37: ChrX:20222214 GRCh38: ChrX:20204096	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Pathogenic (Jun 2, 2020)	criteria provided, single submitter
Select item 107344688.	NC_000023.10:g.(?_20204394)_(20206108_?)del GRCh37: ChrX:20204394-20206108	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Pathogenic (Aug 4, 2021)	criteria provided, single submitter
Select item 106547989.	NM_004586.3(RPS6KA3):c.432T>G (p.Tyr144Ter) GRCh37: ChrX:20212361 GRCh38: ChrX:20194243	RPS6KA3	Y144*	Coffin-Lowry syndrome	Pathogenic (Mar 5, 2020)	criteria provided, single submitter
Select item 104182490.	NC_000023.10:g.(?_17393881)_(20284750_?)dup GRCh37: ChrX:17393881-20284750	ADGRG2, BCLAF3, BEND2, CDKL5, EIF1AX, MAP3K15, MAP7D2, NHS, PDHA1, PHKA2, PPEF1, RAI2, RPS6KA3, RS1, SCML1, SCML2, SH3KBP1		Glycogen storage disease IXa1, Nance-Horan syndrome, Coffin-Lowry syndrome, Intellectual disability, X-linked 19, Developmental and epileptic encephalopathy, 2, Angelman syndrome-like, not provided	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 103082091.	NM_004586.3(RPS6KA3):c.1443+6T>C GRCh37: ChrX:20187514 GRCh38: ChrX:20169396	RPS6KA3		Coffin-Lowry syndrome	Uncertain significance (May 4, 2020)	criteria provided, single submitter
Select item 97576892.	NM_004586.3(RPS6KA3):c.1507G>C (p.Asp503His) GRCh37: ChrX:20185802 GRCh38: ChrX:20167684	RPS6KA3	D503H	Coffin-Lowry syndrome	Likely pathogenic (Jan 1, 2019)	no assertion criteria provided
Select item 97496293.	NM_004586.3(RPS6KA3):c.212T>G (p.Leu71Ter) GRCh37: ChrX:20227437 GRCh38: ChrX:20209319	RPS6KA3	L71*	not provided, Coffin-Lowry syndrome	Pathogenic/Likely pathogenic (Jul 31, 2020)	criteria provided, multiple submitters, no conflicts
Select item 97394694.	NM_004586.3(RPS6KA3):c.1823T>G (p.Leu608Arg) GRCh37: ChrX:20181100 GRCh38: ChrX:20162982	RPS6KA3	L608R	Coffin-Lowry syndrome	Likely pathogenic	criteria provided, single submitter
Select item 97197495.	NM_004586.3(RPS6KA3):c.1151G>T (p.Gly384Val) GRCh37: ChrX:20193358 GRCh38: ChrX:20175240	RPS6KA3	G384V	Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 94569196.	NM_004586.3(RPS6KA3):c.1765-2A>C GRCh37: ChrX:20181160 GRCh38: ChrX:20163042	RPS6KA3		Coffin-Lowry syndrome, Intellectual disability, X-linked 19	Pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 86080997.	NM_004586.3(RPS6KA3):c.999+2dup GRCh37: ChrX:20194549-20194550 GRCh38: ChrX:20176431-20176432	RPS6KA3		Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Uncertain significance (May 29, 2019)	criteria provided, single submitter
Select item 84276498.	NM_004586.3(RPS6KA3):c.1004T>C (p.Leu335Pro) GRCh37: ChrX:20194466 GRCh38: ChrX:20176348	RPS6KA3	L335P	Coffin-Lowry syndrome, Intellectual disability, X-linked 19	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 83272299.	NC_000023.11:g.(?_20155378)_(20176518_?)dup GRCh37: ChrX:20173496-20194636	RPS6KA3		Coffin-Lowry syndrome, Intellectual disability, X-linked 19	Uncertain significance (Dec 27, 2019)	criteria provided, single submitter
Select item 816947100.	NM_004586.3(RPS6KA3):c.898C>T (p.Arg300Ter) GRCh37: ChrX:20195150 GRCh38: ChrX:20177032	RPS6KA3	R300*	not provided, Intellectual disability, X-linked 19, Coffin-Lowry syndrome	Pathogenic (Aug 28, 2022)	criteria provided, multiple submitters, no conflicts

<< First< Prev

Page of 2