ClinVar for MedGen (Select 850742) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24224561.	NC_000010.10:g.(?_123239371)_(124813281_?)del GRCh37: Chr10:123239371-124813281	BTBD16, FAM24A, ARMS2, CUZD1, TACC2, IKZF5, ATE1, C10orf120, FAM24B, FGFR2, C10orf88, ACADSB, PSTK, HTRA1, DMBT1, NSMCE4A, PLEKHA1		FGFR2-related craniosynostosis	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 22030882.	NM_000141.5(FGFR2):c.415G>A (p.Gly139Ser) GRCh37: Chr10:123324055 GRCh38: Chr10:121564541	FGFR2	G139S, G50S	FGFR2-related craniosynostosis	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 22026443.	NM_000141.5(FGFR2):c.1274G>A (p.Arg425Gln) GRCh37: Chr10:123274644 GRCh38: Chr10:121515130	FGFR2	R310Q, R336Q, R426Q, R313Q, R197Q, R337Q, R425Q	FGFR2-related craniosynostosis, Autosomal dominant syndrome including deafness	Conflicting interpretations of pathogenicity (Feb 28, 2023)	criteria provided, conflicting interpretations
Select item 21980484.	NM_000141.5(FGFR2):c.376+20C>A GRCh37: Chr10:123324932 GRCh38: Chr10:121565418	FGFR2		FGFR2-related craniosynostosis	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 21965005.	NM_000141.5(FGFR2):c.1748G>C (p.Gly583Ala) GRCh37: Chr10:123256161 GRCh38: Chr10:121496647	FGFR2	G468A, G471A, G467A, G581A, G583A, G584A, G494A, G355A, G466A, G495A	FGFR2-related craniosynostosis	Uncertain significance (Sep 14, 2022)	criteria provided, single submitter
Select item 21944336.	NM_000141.5(FGFR2):c.1561+14C>T GRCh37: Chr10:123260326 GRCh38: Chr10:121500812	FGFR2		FGFR2-related craniosynostosis	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 21940987.	NM_000141.5(FGFR2):c.288C>T (p.Gly96=) GRCh37: Chr10:123325040 GRCh38: Chr10:121565526	FGFR2		FGFR2-related craniosynostosis	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 21885068.	NM_000141.5(FGFR2):c.728C>T (p.Thr243Met) GRCh37: Chr10:123298126 GRCh38: Chr10:121538612	FGFR2	T154M, T128M, T243M	FGFR2-related craniosynostosis	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 21861709.	NM_000141.5(FGFR2):c.1120G>A (p.Asp374Asn) GRCh37: Chr10:123274798 GRCh38: Chr10:121515284	FGFR2	D146N, D375N, D262N, D286N, D259N, D285N, D374N	FGFR2-related craniosynostosis	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 218608610.	NM_000141.5(FGFR2):c.455-9C>T GRCh37: Chr10:123310982 GRCh38: Chr10:121551468	FGFR2		FGFR2-related craniosynostosis	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 218383611.	NM_000141.5(FGFR2):c.2016A>T (p.Pro672=) GRCh37: Chr10:123246909 GRCh38: Chr10:121487395	FGFR2		FGFR2-related craniosynostosis	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 217759412.	NM_000141.5(FGFR2):c.1164C>T (p.Ile388=) GRCh37: Chr10:123274754 GRCh38: Chr10:121515240	FGFR2		FGFR2-related craniosynostosis	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 217742813.	NM_000141.5(FGFR2):c.1023G>A (p.Thr341=) GRCh37: Chr10:123276894 GRCh38: Chr10:121517380	FGFR2		FGFR2-related craniosynostosis	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 217292714.	NM_000141.5(FGFR2):c.544G>T (p.Gly182Trp) GRCh37: Chr10:123310884 GRCh38: Chr10:121551370	FGFR2	G182W, G93W, G67W	FGFR2-related craniosynostosis, not provided	Uncertain significance (Sep 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216313615.	NM_000141.5(FGFR2):c.222G>A (p.Lys74=) GRCh37: Chr10:123325106 GRCh38: Chr10:121565592	FGFR2		FGFR2-related craniosynostosis	Likely benign (Dec 22, 2021)	criteria provided, single submitter
Select item 216256216.	NM_000141.5(FGFR2):c.657A>G (p.Glu219=) GRCh37: Chr10:123298197 GRCh38: Chr10:121538683	FGFR2		FGFR2-related craniosynostosis	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 214860817.	NM_000141.5(FGFR2):c.2223T>C (p.His741=) GRCh37: Chr10:123243290 GRCh38: Chr10:121483776	FGFR2		FGFR2-related craniosynostosis	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 214284218.	NM_000141.5(FGFR2):c.1392C>T (p.Ser464=) GRCh37: Chr10:123263351 GRCh38: Chr10:121503837	FGFR2		FGFR2-related craniosynostosis	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 213693619.	NM_000141.5(FGFR2):c.1084+1G>A GRCh37: Chr10:123276832 GRCh38: Chr10:121517318	FGFR2		FGFR2-related condition, FGFR2-related craniosynostosis	Pathogenic (Aug 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 213693520.	NM_000141.5(FGFR2):c.1084+2T>C GRCh37: Chr10:123276831 GRCh38: Chr10:121517317	FGFR2		FGFR2-related craniosynostosis	Pathogenic (Oct 6, 2022)	criteria provided, single submitter
Select item 213146821.	NM_000141.5(FGFR2):c.720C>T (p.Ile240=) GRCh37: Chr10:123298134 GRCh38: Chr10:121538620	FGFR2		FGFR2-related craniosynostosis	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 213138122.	NM_000141.5(FGFR2):c.1023_1024delinsAG (p.Cys342Gly) GRCh37: Chr10:123276893-123276894 GRCh38: Chr10:121517379-121517380	FGFR2	C114G, C342G, C227G, C253G	FGFR2-related craniosynostosis	Pathogenic (Apr 28, 2022)	criteria provided, single submitter
Select item 213136823.	NM_000141.5(FGFR2):c.1211C>T (p.Thr404Ile) GRCh37: Chr10:123274707 GRCh38: Chr10:121515193	FGFR2	T315I, T404I, T405I, T316I, T176I, T289I, T292I	FGFR2-related craniosynostosis	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 211518624.	NM_000141.5(FGFR2):c.2340A>G (p.Ser780=) GRCh37: Chr10:123239497 GRCh38: Chr10:121479983	FGFR2		FGFR2-related craniosynostosis	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 210578825.	NM_000141.5(FGFR2):c.1014_1015insATT (p.Gly338_Glu339insIle) GRCh37: Chr10:123276902-123276903 GRCh38: Chr10:121517388-121517389	FGFR2		FGFR2-related craniosynostosis	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 210471126.	NM_000141.5(FGFR2):c.2000T>C (p.Val667Ala) GRCh37: Chr10:123246925 GRCh38: Chr10:121487411	FGFR2	V550A, V555A, V578A, V579A, V439A, V551A, V552A, V665A, V667A, V668A	FGFR2-related craniosynostosis	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 210339527.	NM_000141.5(FGFR2):c.1066T>G (p.Trp356Gly) GRCh37: Chr10:123276851 GRCh38: Chr10:121517337	FGFR2	W356G, W241G, W128G, W267G	FGFR2-related craniosynostosis	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 210103428.	NM_000141.5(FGFR2):c.837G>A (p.Lys279=) GRCh37: Chr10:123279595 GRCh38: Chr10:121520081	FGFR2		FGFR2-related craniosynostosis	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 209648629.	NM_000141.5(FGFR2):c.1493C>T (p.Ala498Val) GRCh37: Chr10:123260408 GRCh38: Chr10:121500894	FGFR2	A381V, A382V, A410V, A383V, A270V, A386V, A496V, A498V, A409V, A499V	FGFR2-related craniosynostosis	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 209370130.	NM_000141.5(FGFR2):c.1025_1027del (p.Cys342del) GRCh37: Chr10:123276890-123276892 GRCh38: Chr10:121517376-121517378	FGFR2	C253del, C342del, C227del, C114del	FGFR2-related craniosynostosis	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 208764031.	NM_000141.5(FGFR2):c.748+14T>A GRCh37: Chr10:123298092 GRCh38: Chr10:121538578	FGFR2		FGFR2-related craniosynostosis	Likely benign (Jul 2, 2022)	criteria provided, single submitter
Select item 208601232.	NM_000141.5(FGFR2):c.903C>T (p.Tyr301=) GRCh37: Chr10:123279529 GRCh38: Chr10:121520015	FGFR2		FGFR2-related craniosynostosis	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 207632433.	NM_000141.5(FGFR2):c.143A>C (p.Glu48Ala) GRCh37: Chr10:123325185 GRCh38: Chr10:121565671	FGFR2	E48A	FGFR2-related craniosynostosis	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 207385234.	NM_000141.5(FGFR2):c.939+11T>A GRCh37: Chr10:123279482 GRCh38: Chr10:121519968	FGFR2		FGFR2-related craniosynostosis	Likely benign (May 26, 2022)	criteria provided, single submitter
Select item 207260135.	NM_000141.5(FGFR2):c.293C>T (p.Thr98Met) GRCh37: Chr10:123325035 GRCh38: Chr10:121565521	FGFR2	T98M	FGFR2-related craniosynostosis	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 207251836.	NM_000141.5(FGFR2):c.1191G>A (p.Leu397=) GRCh37: Chr10:123274727 GRCh38: Chr10:121515213	FGFR2		FGFR2-related craniosynostosis	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 207144037.	NM_000141.5(FGFR2):c.1531G>A (p.Ala511Thr) GRCh37: Chr10:123260370 GRCh38: Chr10:121500856	FGFR2	A509T, A512T, A396T, A399T, A422T, A423T, A511T, A283T, A394T, A395T	FGFR2-related craniosynostosis	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 206612738.	NM_000141.5(FGFR2):c.2399C>T (p.Pro800Leu) GRCh37: Chr10:123239438 GRCh38: Chr10:121479924	FGFR2	P572L, P684L, P800L, P683L, P685L, P798L, P688L, P711L, P801L	FGFR2-related craniosynostosis	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 206579539.	NM_000141.5(FGFR2):c.2078T>C (p.Met693Thr) GRCh37: Chr10:123245026 GRCh38: Chr10:121485512	FGFR2	M577T, M604T, M694T, M576T, M605T, M578T, M581T, M693T, M465T, M691T	FGFR2-related craniosynostosis	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 206413940.	NM_000141.5(FGFR2):c.361A>G (p.Met121Val) GRCh37: Chr10:123324967 GRCh38: Chr10:121565453	FGFR2	M121V	FGFR2-related craniosynostosis	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 206394941.	NM_000141.5(FGFR2):c.1562-9_1562-8delinsAA GRCh37: Chr10:123258127-123258128 GRCh38: Chr10:121498613-121498614	FGFR2		FGFR2-related craniosynostosis	Uncertain significance (May 14, 2022)	criteria provided, single submitter
Select item 206394742.	NM_000141.5(FGFR2):c.1562-6del GRCh37: Chr10:123258125 GRCh38: Chr10:121498611	FGFR2		FGFR2-related craniosynostosis	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 206013643.	NM_000141.5(FGFR2):c.1455G>A (p.Lys485=) GRCh37: Chr10:123260446 GRCh38: Chr10:121500932	FGFR2		FGFR2-related craniosynostosis	Likely benign (Jul 27, 2022)	criteria provided, single submitter
Select item 205369244.	NM_000141.5(FGFR2):c.984T>C (p.Tyr328=) GRCh37: Chr10:123276933 GRCh38: Chr10:121517419	FGFR2		FGFR2-related craniosynostosis	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 205064845.	NM_000141.5(FGFR2):c.990G>T (p.Arg330=) GRCh37: Chr10:123276927 GRCh38: Chr10:121517413	FGFR2		FGFR2-related craniosynostosis	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 204692046.	NM_000141.5(FGFR2):c.242C>T (p.Pro81Leu) GRCh37: Chr10:123325086 GRCh38: Chr10:121565572	FGFR2	P81L	FGFR2-related craniosynostosis	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 204433647.	NM_000141.5(FGFR2):c.399T>C (p.Asp133=) GRCh37: Chr10:123324071 GRCh38: Chr10:121564557	FGFR2		not provided, FGFR2-related craniosynostosis	Benign/Likely benign (Apr 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 203766248.	NM_000141.5(FGFR2):c.711C>T (p.Tyr237=) GRCh37: Chr10:123298143 GRCh38: Chr10:121538629	FGFR2		FGFR2-related craniosynostosis	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 202609449.	NM_000141.5(FGFR2):c.2302-17C>T GRCh37: Chr10:123239552 GRCh38: Chr10:121480038	FGFR2		FGFR2-related craniosynostosis	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 202599450.	NM_000141.5(FGFR2):c.1287+1G>T GRCh37: Chr10:123274630 GRCh38: Chr10:121515116	FGFR2		FGFR2-related craniosynostosis	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 202251951.	NM_000141.5(FGFR2):c.1536C>T (p.Val512=) GRCh37: Chr10:123260365 GRCh38: Chr10:121500851	FGFR2		FGFR2-related craniosynostosis	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 201900352.	NM_000141.5(FGFR2):c.1672+20G>A GRCh37: Chr10:123257989 GRCh38: Chr10:121498475	FGFR2		FGFR2-related craniosynostosis	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 200568053.	NM_000141.5(FGFR2):c.564C>G (p.Thr188=) GRCh37: Chr10:123310864 GRCh38: Chr10:121551350	FGFR2		FGFR2-related craniosynostosis	Benign (Sep 13, 2022)	criteria provided, single submitter
Select item 200527854.	NM_000141.5(FGFR2):c.976G>A (p.Val326Ile) GRCh37: Chr10:123276941 GRCh38: Chr10:121517427	FGFR2	V326I, V98I, V211I, V237I	FGFR2-related craniosynostosis	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 199511155.	NM_000141.5(FGFR2):c.868T>A (p.Trp290Arg) GRCh37: Chr10:123279564 GRCh38: Chr10:121520050	FGFR2	W175R, W62R, W201R, W290R	FGFR2-related craniosynostosis	Pathogenic (May 16, 2022)	criteria provided, single submitter
Select item 198697156.	NM_000141.5(FGFR2):c.1085-9G>A GRCh37: Chr10:123274842 GRCh38: Chr10:121515328	FGFR2		FGFR2-related craniosynostosis	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 197154157.	NM_000141.5(FGFR2):c.1486G>A (p.Val496Ile) GRCh37: Chr10:123260415 GRCh38: Chr10:121500901	FGFR2	V381I, V384I, V268I, V380I, V496I, V379I, V407I, V408I, V494I, V497I	FGFR2-related craniosynostosis	Uncertain significance (Nov 3, 2022)	criteria provided, single submitter
Select item 197036058.	NM_000141.5(FGFR2):c.2421A>G (p.Pro807=) GRCh37: Chr10:123239416 GRCh38: Chr10:121479902	FGFR2		FGFR2-related craniosynostosis	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 196609159.	NM_000141.5(FGFR2):c.257T>G (p.Val86Gly) GRCh37: Chr10:123325071 GRCh38: Chr10:121565557	FGFR2	V86G	FGFR2-related craniosynostosis	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 196374260.	NM_000141.5(FGFR2):c.1064C>T (p.Ala355Val) GRCh37: Chr10:123276853 GRCh38: Chr10:121517339	FGFR2	A127V, A266V, A240V, A355V	FGFR2-related craniosynostosis	Uncertain significance (Aug 5, 2021)	criteria provided, single submitter
Select item 196130761.	NM_000141.5(FGFR2):c.141A>G (p.Pro47=) GRCh37: Chr10:123325187 GRCh38: Chr10:121565673	FGFR2		FGFR2-related craniosynostosis	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 196122362.	NM_000141.5(FGFR2):c.940-4C>G GRCh37: Chr10:123276981 GRCh38: Chr10:121517467	FGFR2		FGFR2-related craniosynostosis	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 195900363.	NM_000141.5(FGFR2):c.748+15C>T GRCh37: Chr10:123298091 GRCh38: Chr10:121538577	FGFR2		FGFR2-related craniosynostosis	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 195245064.	NM_000141.5(FGFR2):c.1085-13A>G GRCh37: Chr10:123274846 GRCh38: Chr10:121515332	FGFR2		FGFR2-related craniosynostosis	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 195026965.	NM_000141.5(FGFR2):c.2196-5C>T GRCh37: Chr10:123243322 GRCh38: Chr10:121483808	FGFR2		FGFR2-related craniosynostosis	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 194364766.	NM_000141.5(FGFR2):c.1863+14A>G GRCh37: Chr10:123256032 GRCh38: Chr10:121496518	FGFR2		FGFR2-related craniosynostosis	Likely benign (Mar 24, 2022)	criteria provided, single submitter
Select item 193882467.	NM_000141.5(FGFR2):c.810C>T (p.Val270=) GRCh37: Chr10:123279622 GRCh38: Chr10:121520108	FGFR2		FGFR2-related craniosynostosis	Likely benign (Oct 28, 2022)	criteria provided, single submitter
Select item 193460568.	NM_000141.5(FGFR2):c.1603A>T (p.Met535Leu) GRCh37: Chr10:123258078 GRCh38: Chr10:121498564	FGFR2	M418L, M419L, M420L, M447L, M533L, M536L, M307L, M446L, M423L, M535L	FGFR2-related craniosynostosis	Uncertain significance (Aug 27, 2022)	criteria provided, single submitter
Select item 193386569.	NM_000141.5(FGFR2):c.376+15C>T GRCh37: Chr10:123324937 GRCh38: Chr10:121565423	FGFR2		FGFR2-related craniosynostosis	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 191436670.	NM_000141.5(FGFR2):c.82G>A (p.Val28Ile) GRCh37: Chr10:123353250 GRCh38: Chr10:121593736	FGFR2	V28I	FGFR2-related craniosynostosis	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 190359371.	NM_000141.5(FGFR2):c.1342A>G (p.Thr448Ala) GRCh37: Chr10:123263401 GRCh38: Chr10:121503887	FGFR2	T331A, T333A, T336A, T449A, T220A, T360A, T448A, T332A, T359A, T446A	not provided, FGFR2-related craniosynostosis	Uncertain significance (Jan 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 172150672.	NM_000141.5(FGFR2):c.664G>A (p.Val222Ile) GRCh37: Chr10:123298190 GRCh38: Chr10:121538676	FGFR2	V107I, V133I, V222I	FGFR2-related craniosynostosis	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 172129473.	NM_000141.5(FGFR2):c.1482A>T (p.Gln494His) GRCh37: Chr10:123260419 GRCh38: Chr10:121500905	FGFR2	Q266H, Q377H, Q378H, Q379H, Q382H, Q405H, Q406H, Q492H, Q494H, Q495H	FGFR2-related craniosynostosis	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 171783374.	NM_000141.5(FGFR2):c.1661G>C (p.Cys554Ser) GRCh37: Chr10:123258020 GRCh38: Chr10:121498506	FGFR2	C326S, C437S, C438S, C439S, C442S, C465S, C466S, C552S, C554S, C555S	FGFR2-related craniosynostosis	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 171638875.	NM_000141.5(FGFR2):c.1772A>G (p.Asn591Ser) GRCh37: Chr10:123256137 GRCh38: Chr10:121496623	FGFR2	N363S, N474S, N475S, N476S, N479S, N502S, N503S, N589S, N591S, N592S	FGFR2-related craniosynostosis	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 171359276.	NM_000141.5(FGFR2):c.1687A>G (p.Ile563Val) GRCh37: Chr10:123256222 GRCh38: Chr10:121496708	FGFR2	I335V, I446V, I447V, I448V, I451V, I474V, I475V, I561V, I563V, I564V	FGFR2-related craniosynostosis	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 169821177.	NM_000141.5(FGFR2):c.1977G>T (p.Lys659Asn) GRCh37: Chr10:123247514 GRCh38: Chr10:121488000	FGFR2	K431N, K542N, K543N, K544N, K547N, K570N, K571N, K657N, K659N, K660N	not provided, FGFR2-related craniosynostosis	Pathogenic (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167361478.	NM_000141.5(FGFR2):c.1987-20A>T GRCh37: Chr10:123246958 GRCh38: Chr10:121487444	FGFR2		FGFR2-related craniosynostosis, Bent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type, Craniofacial dysostosis, Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, Jackson-Weiss syndrome, Levy-Hollister syndrome, Stomach cancerPfeiffer syndrome, ...see more	Likely benign (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167274879.	NM_000141.5(FGFR2):c.109+12790G>A GRCh37: Chr10:123340433 GRCh38: Chr10:121580919	FGFR2, LOC124416922		FGFR2-related craniosynostosis	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 166848180.	NM_000141.5(FGFR2):c.109+4561_109+4562delinsCA GRCh37: Chr10:123348661-123348662 GRCh38: Chr10:121589147-121589148	FGFR2		FGFR2-related craniosynostosis	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 166534881.	NM_000141.5(FGFR2):c.455-20_455-15del GRCh37: Chr10:123310988-123310993 GRCh38: Chr10:121551474-121551479	FGFR2		FGFR2-related craniosynostosis	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 166343882.	NM_000141.5(FGFR2):c.109+4561A>C GRCh37: Chr10:123348662 GRCh38: Chr10:121589148	FGFR2		FGFR2-related craniosynostosis	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 166341883.	NM_000141.5(FGFR2):c.109+4561A>T GRCh37: Chr10:123348662 GRCh38: Chr10:121589148	FGFR2		FGFR2-related craniosynostosis	Benign (Jul 6, 2022)	criteria provided, single submitter
Select item 166339784.	NM_000141.5(FGFR2):c.109+7033T>C GRCh37: Chr10:123346190 GRCh38: Chr10:121586676	FGFR2		FGFR2-related craniosynostosis	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 166338085.	NM_000141.5(FGFR2):c.109+12912G>T GRCh37: Chr10:123340311 GRCh38: Chr10:121580797	FGFR2, LOC124416922		FGFR2-related craniosynostosis	Benign (Oct 24, 2022)	criteria provided, single submitter
Select item 165982686.	NM_000141.5(FGFR2):c.109+13116T>C GRCh37: Chr10:123340107 GRCh38: Chr10:121580593	FGFR2, LOC124416922		FGFR2-related craniosynostosis	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 165981687.	NM_000141.5(FGFR2):c.109+12791del GRCh37: Chr10:123340432 GRCh38: Chr10:121580918	FGFR2, LOC124416922		FGFR2-related craniosynostosis	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 165972888.	NM_000141.5(FGFR2):c.114A>T (p.Pro38=) GRCh37: Chr10:123325214 GRCh38: Chr10:121565700	FGFR2		FGFR2-related craniosynostosis	Likely benign (Mar 17, 2021)	criteria provided, single submitter
Select item 165337189.	NM_000141.5(FGFR2):c.1987-20A>G GRCh37: Chr10:123246958 GRCh38: Chr10:121487444	FGFR2		FGFR2-related craniosynostosis	Benign (Jul 26, 2022)	criteria provided, single submitter
Select item 164891990.	NM_000141.5(FGFR2):c.940-9G>A GRCh37: Chr10:123276986 GRCh38: Chr10:121517472	FGFR2		FGFR2-related craniosynostosis	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 164608891.	NM_000141.5(FGFR2):c.924C>T (p.Tyr308=) GRCh37: Chr10:123279508 GRCh38: Chr10:121519994	FGFR2		FGFR2-related craniosynostosis	Likely benign (Dec 29, 2020)	criteria provided, single submitter
Select item 164555292.	NM_000141.5(FGFR2):c.1441C>T (p.Leu481=) GRCh37: Chr10:123260460 GRCh38: Chr10:121500946	FGFR2		FGFR2-related craniosynostosis	Benign (May 21, 2022)	criteria provided, single submitter
Select item 164527193.	NM_000141.5(FGFR2):c.1288-16_1288-15insTTG GRCh37: Chr10:123263470-123263471 GRCh38: Chr10:121503956-121503957	FGFR2		FGFR2-related craniosynostosis	Likely benign (Dec 7, 2020)	criteria provided, single submitter
Select item 162674794.	NM_000141.5(FGFR2):c.1863+19A>G GRCh37: Chr10:123256027 GRCh38: Chr10:121496513	FGFR2		FGFR2-related craniosynostosis	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 161830495.	NM_000141.5(FGFR2):c.501T>C (p.His167=) GRCh37: Chr10:123310927 GRCh38: Chr10:121551413	FGFR2		FGFR2-related craniosynostosis	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 159891396.	NM_000141.5(FGFR2):c.109+12912G>A GRCh37: Chr10:123340311 GRCh38: Chr10:121580797	FGFR2, LOC124416922		FGFR2-related craniosynostosis	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 159393197.	NM_000141.5(FGFR2):c.1485G>A (p.Val495=) GRCh37: Chr10:123260416 GRCh38: Chr10:121500902	FGFR2		FGFR2-related craniosynostosis	Likely benign (Feb 2, 2021)	criteria provided, single submitter
Select item 158465398.	NM_000141.5(FGFR2):c.1335G>T (p.Val445=) GRCh37: Chr10:123263408 GRCh38: Chr10:121503894	FGFR2		FGFR2-related craniosynostosis, Bent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type, Acrocephalosyndactyly type I, Stomach cancer, Jackson-Weiss syndrome, Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome, Levy-Hollister syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisSaethre-Chotzen syndrome, ...see more	Likely benign (Mar 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158460799.	NM_000141.5(FGFR2):c.390C>T (p.Ser130=) GRCh37: Chr10:123324080 GRCh38: Chr10:121564566	FGFR2		FGFR2-related craniosynostosis	Likely benign (Jun 23, 2021)	criteria provided, single submitter
Select item 1578672100.	NM_000141.5(FGFR2):c.1023G>T (p.Thr341=) GRCh37: Chr10:123276894 GRCh38: Chr10:121517380	FGFR2		FGFR2-related craniosynostosis	Likely benign (Dec 2, 2021)	criteria provided, single submitter

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