ClinVar for MedGen (Select 75551) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 1 to 100 of 145

<< First< Prev

Page of 2

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25034361.	NM_001365902.3(NFIX):c.486C>A (p.Cys162Ter) GRCh37: Chr19:13136293 GRCh38: Chr19:13025479	NFIX	C115, C154, C161, C162, C170, C178	Marshall-Smith syndrome	Likely pathogenic (Apr 1, 2023)	no assertion criteria provided
Select item 24417612.	NM_001365902.3(NFIX):c.1090dup (p.Ala364fs) GRCh37: Chr19:13192502-13192503 GRCh38: Chr19:13081688-13081689	NFIX	A317fs, A323fs, A356fs, A363fs, A364fs, A372fs, A380fs	Marshall-Smith syndrome	Pathogenic (Dec 1, 2022)	criteria provided, single submitter
Select item 24313523.	NM_001365902.3(NFIX):c.697+3_697+6del GRCh37: Chr19:13184310-13184313 GRCh38: Chr19:13073496-13073499	NFIX		Malan overgrowth syndrome, Marshall-Smith syndrome, Malan overgrowth syndrome	Uncertain significance (Jul 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 24240614.	NC_000019.9:g.(?_13136156)_(13151380_?)del GRCh37: Chr19:13136156-13151380	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Likely pathogenic (Nov 10, 2021)	criteria provided, single submitter
Select item 24237565.	NC_000019.9:g.(?_13135448)_(13419362_?)dup GRCh37: Chr19:13135448-13419362	CACNA1A, IER2, LYL1, NACC1, NFIX, STX10, TRMT1		Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42, Marshall-Smith syndrome, Malan overgrowth syndrome	Uncertain significance (Apr 14, 2022)	criteria provided, single submitter
Select item 21965986.	NM_001365902.3(NFIX):c.28-322A>G GRCh37: Chr19:13135513 GRCh38: Chr19:13024699	NFIX	T19A	Marshall-Smith syndrome, Malan overgrowth syndrome	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 21607907.	NM_001365902.3(NFIX):c.28-370G>A GRCh37: Chr19:13135465 GRCh38: Chr19:13024651	NFIX	A3T	Marshall-Smith syndrome, Malan overgrowth syndrome	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 21531858.	NM_001365902.3(NFIX):c.288G>A (p.Thr96=) GRCh37: Chr19:13136095 GRCh38: Chr19:13025281	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 21523109.	NM_001365902.3(NFIX):c.559G>T (p.Glu187Ter) GRCh37: Chr19:13136366 GRCh38: Chr19:13025552	NFIX	E187, E179, E186, E140, E195, E203	Marshall-Smith syndrome, Malan overgrowth syndrome	Pathogenic (Apr 9, 2022)	criteria provided, single submitter
Select item 214939710.	NM_001365902.3(NFIX):c.393G>A (p.Leu131=) GRCh37: Chr19:13136200 GRCh38: Chr19:13025386	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Likely benign (Jul 9, 2022)	criteria provided, single submitter
Select item 214738411.	NM_001365902.3(NFIX):c.622+8C>G GRCh37: Chr19:13183931 GRCh38: Chr19:13073117	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Uncertain significance (Sep 17, 2022)	criteria provided, single submitter
Select item 214607712.	NM_001365902.3(NFIX):c.1267G>A (p.Gly423Ser) GRCh37: Chr19:13198815 GRCh38: Chr19:13088001	NFIX	G431S, G415S, G423S, G439S, G422S	Marshall-Smith syndrome, Malan overgrowth syndrome	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 214361513.	NM_001365902.3(NFIX):c.28-368G>T GRCh37: Chr19:13135467 GRCh38: Chr19:13024653	NFIX	R7L	Marshall-Smith syndrome, Malan overgrowth syndrome	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 213825314.	NM_001365902.3(NFIX):c.463C>T (p.Gln155Ter) GRCh37: Chr19:13136270 GRCh38: Chr19:13025456	NFIX	Q155, Q171, Q108, Q147, Q163, Q154	Marshall-Smith syndrome, Malan overgrowth syndrome	Pathogenic (Aug 12, 2022)	criteria provided, single submitter
Select item 212079315.	NM_001365902.3(NFIX):c.28-15G>A GRCh37: Chr19:13135820 GRCh38: Chr19:13025006	NFIX	A4T	Marshall-Smith syndrome, Malan overgrowth syndrome	Benign (Sep 1, 2022)	criteria provided, single submitter
Select item 209914916.	NM_001365902.3(NFIX):c.28-16G>A GRCh37: Chr19:13135819 GRCh38: Chr19:13025005	NFIX		Inborn genetic diseases, Marshall-Smith syndrome, Malan overgrowth syndrome	Conflicting interpretations of pathogenicity (Sep 10, 2022)	criteria provided, conflicting interpretations
Select item 209263417.	NM_001365902.3(NFIX):c.187G>A (p.Glu63Lys) GRCh37: Chr19:13135994 GRCh38: Chr19:13025180	NFIX	E16K, E55K, E63K, E62K, E71K, E79K	Marshall-Smith syndrome, Malan overgrowth syndrome	Likely pathogenic (Mar 7, 2022)	criteria provided, single submitter
Select item 208783618.	NM_001365902.3(NFIX):c.1179C>T (p.His393=) GRCh37: Chr19:13192594 GRCh38: Chr19:13081780	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Likely benign (Jan 18, 2022)	criteria provided, single submitter
Select item 207676119.	NM_001365902.3(NFIX):c.1495-15T>C GRCh37: Chr19:13205434 GRCh38: Chr19:13094620	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 207361920.	NM_001365902.3(NFIX):c.1174CAC[5] (p.His395_Gly396insHis) GRCh37: Chr19:13192586-13192587 GRCh38: Chr19:13081772-13081773	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 206847521.	NM_001365902.3(NFIX):c.1494+16C>G GRCh37: Chr19:13201220 GRCh38: Chr19:13090406	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Uncertain significance (May 23, 2022)	criteria provided, single submitter
Select item 206822722.	NM_001365902.3(NFIX):c.687_688dup (p.Val230fs) GRCh37: Chr19:13184296-13184297 GRCh38: Chr19:13073482-13073483	NFIX	V230fs, V238fs, V183fs, V222fs, V229fs, V246fs	Marshall-Smith syndrome, Malan overgrowth syndrome	Pathogenic (Jul 4, 2022)	criteria provided, single submitter
Select item 206553623.	NM_001365902.3(NFIX):c.426G>A (p.Leu142=) GRCh37: Chr19:13136233 GRCh38: Chr19:13025419	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 206430124.	NM_001365902.3(NFIX):c.422C>G (p.Pro141Arg) GRCh37: Chr19:13136229 GRCh38: Chr19:13025415	NFIX	P149R, P141R, P94R, P157R, P133R, P140R	Marshall-Smith syndrome, Malan overgrowth syndrome	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 206253825.	NM_001365902.3(NFIX):c.360G>A (p.Leu120=) GRCh37: Chr19:13136167 GRCh38: Chr19:13025353	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 205686426.	NM_001365902.3(NFIX):c.564C>T (p.Ser188=) GRCh37: Chr19:13183865 GRCh38: Chr19:13073051	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Benign (Aug 10, 2022)	criteria provided, single submitter
Select item 205172227.	NM_001365902.3(NFIX):c.1305G>A (p.Pro435=) GRCh37: Chr19:13198853 GRCh38: Chr19:13088039	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 204928528.	NM_001365902.3(NFIX):c.559+18A>G GRCh37: Chr19:13136384 GRCh38: Chr19:13025570	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 204809929.	NM_001365902.3(NFIX):c.1495-18T>C GRCh37: Chr19:13205431 GRCh38: Chr19:13094617	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Uncertain significance (Sep 4, 2022)	criteria provided, single submitter
Select item 204595430.	NM_001365902.3(NFIX):c.231C>T (p.Ala77=) GRCh37: Chr19:13136038 GRCh38: Chr19:13025224	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Likely benign (Aug 17, 2022)	criteria provided, single submitter
Select item 204267831.	NM_001365902.3(NFIX):c.1263T>C (p.Gly421=) GRCh37: Chr19:13198811 GRCh38: Chr19:13087997	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Likely benign (Aug 26, 2022)	criteria provided, single submitter
Select item 204156932.	NM_001365902.3(NFIX):c.28-326G>A GRCh37: Chr19:13135509 GRCh38: Chr19:13024695	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Benign (Aug 30, 2022)	criteria provided, single submitter
Select item 202945133.	NM_001365902.3(NFIX):c.559+18A>T GRCh37: Chr19:13136384 GRCh38: Chr19:13025570	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 202599734.	NM_001365902.3(NFIX):c.846T>C (p.Asp282=) GRCh37: Chr19:13186376 GRCh38: Chr19:13075562	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 202595035.	NM_001365902.3(NFIX):c.1059del (p.Ala355fs) GRCh37: Chr19:13189530 GRCh38: Chr19:13078716	NFIX	A371fs, A308fs, A347fs, A354fs, A355fs, A363fs	Marshall-Smith syndrome, Malan overgrowth syndrome	Pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 201870036.	NM_001365902.3(NFIX):c.235C>T (p.Leu79=) GRCh37: Chr19:13136042 GRCh38: Chr19:13025228	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 200784637.	NM_001365902.3(NFIX):c.819-3C>T GRCh37: Chr19:13186346 GRCh38: Chr19:13075532	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 200722038.	NM_001365902.3(NFIX):c.818+16C>T GRCh37: Chr19:13184856 GRCh38: Chr19:13074042	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 200187839.	NM_001365902.3(NFIX):c.67G>C (p.Val23Leu) GRCh37: Chr19:13135874 GRCh38: Chr19:13025060	NFIX	V23L, V15L, V22L, V31L, V39L	Marshall-Smith syndrome, Malan overgrowth syndrome	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 198744640.	NM_001365902.3(NFIX):c.559+23del GRCh37: Chr19:13136385 GRCh38: Chr19:13025571	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Benign (Aug 16, 2022)	criteria provided, single submitter
Select item 198552641.	NM_001365902.3(NFIX):c.129G>A (p.Lys43=) GRCh37: Chr19:13135936 GRCh38: Chr19:13025122	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 198352142.	NM_001365902.3(NFIX):c.1185C>T (p.His395=) GRCh37: Chr19:13192600 GRCh38: Chr19:13081786	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 198022343.	NM_001365902.3(NFIX):c.42G>A (p.Pro14=) GRCh37: Chr19:13135849 GRCh38: Chr19:13025035	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Likely benign (Jan 2, 2022)	criteria provided, single submitter
Select item 197367044.	NM_001365902.3(NFIX):c.555T>G (p.Thr185=) GRCh37: Chr19:13136362 GRCh38: Chr19:13025548	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 196011845.	NM_001365902.3(NFIX):c.28-355G>A GRCh37: Chr19:13135480 GRCh38: Chr19:13024666	NFIX	G8R	Marshall-Smith syndrome, Malan overgrowth syndrome	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 195120746.	NM_001365902.3(NFIX):c.33G>A (p.Glu11=) GRCh37: Chr19:13135840 GRCh38: Chr19:13025026	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 193398747.	NM_001365902.3(NFIX):c.401T>C (p.Val134Ala) GRCh37: Chr19:13136208 GRCh38: Chr19:13025394	NFIX	V134A, V87A, V142A, V126A, V133A, V150A	Marshall-Smith syndrome, Malan overgrowth syndrome	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 191981448.	NM_001365902.3(NFIX):c.523C>T (p.Leu175=) GRCh37: Chr19:13136330 GRCh38: Chr19:13025516	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 189539149.	NM_001365902.3(NFIX):c.1155_1156delinsAA (p.His386Asn) GRCh37: Chr19:13192570-13192571 GRCh38: Chr19:13081756-13081757	NFIX	H339N, H345N, H378N, H385N, H386N, H394N, H402N	Marshall-Smith syndrome, Malan overgrowth syndrome	Likely pathogenic	criteria provided, single submitter
Select item 170810250.	NM_001365902.3(NFIX):c.1311_1313dup (p.Pro438_Val439insPro) GRCh37: Chr19:13198856-13198857 GRCh38: Chr19:13088042-13088043	NFIX		Marshall-Smith syndrome	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 169445651.	NM_001365902.3(NFIX):c.226_242del (p.Leu76fs) GRCh37: Chr19:13136033-13136049 GRCh38: Chr19:13025219-13025235	NFIX	L29fs, L68fs, L75fs, L76fs, L84fs, L92fs	Marshall-Smith syndrome, Malan overgrowth syndrome	Pathogenic	criteria provided, single submitter
Select item 168597952.	NM_001365902.3(NFIX):c.163del (p.Ala55fs) GRCh37: Chr19:13135968 GRCh38: Chr19:13025154	NFIX	A47fs, A54fs, A55fs, A63fs, A71fs, A8fs	Marshall-Smith syndrome	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 167961053.	NM_001365902.3(NFIX):c.26A>C (p.Gln9Pro) GRCh37: Chr19:13106677 GRCh38: Chr19:12995863	NFIX	Q9P	Marshall-Smith syndrome, Malan overgrowth syndrome	Uncertain significance (May 20, 2021)	criteria provided, single submitter
Select item 166136954.	NM_001365902.3(NFIX):c.105G>A (p.Ala35=) GRCh37: Chr19:13135912 GRCh38: Chr19:13025098	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Likely benign (Apr 28, 2021)	criteria provided, single submitter
Select item 163009855.	NM_001365902.3(NFIX):c.786G>A (p.Gly262=) GRCh37: Chr19:13184808 GRCh38: Chr19:13073994	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 161331056.	NM_001365902.3(NFIX):c.1026G>A (p.Pro342=) GRCh37: Chr19:13189497 GRCh38: Chr19:13078683	NFIX		Malan overgrowth syndrome, Marshall-Smith syndrome	Benign (Aug 8, 2022)	criteria provided, single submitter
Select item 160473557.	NM_001365902.3(NFIX):c.690A>G (p.Val230=) GRCh37: Chr19:13184303 GRCh38: Chr19:13073489	NFIX		Malan overgrowth syndrome, Marshall-Smith syndrome	Likely benign (Sep 15, 2021)	criteria provided, single submitter
Select item 158597358.	NM_001365902.3(NFIX):c.1079-10G>T GRCh37: Chr19:13192484 GRCh38: Chr19:13081670	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 158323059.	NM_001365902.3(NFIX):c.604A>G (p.Ile202Val) GRCh37: Chr19:13183905 GRCh38: Chr19:13073091	NFIX	I210V, I218V, I155V, I194V, I201V, I202V	Marshall-Smith syndrome, Malan overgrowth syndrome	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 154039860.	NM_001365902.3(NFIX):c.1079-10G>C GRCh37: Chr19:13192484 GRCh38: Chr19:13081670	NFIX		Malan overgrowth syndrome, Marshall-Smith syndrome	Likely benign (Aug 17, 2021)	criteria provided, single submitter
Select item 153847161.	NM_001365902.3(NFIX):c.1078+20G>A GRCh37: Chr19:13189569 GRCh38: Chr19:13078755	NFIX		Malan overgrowth syndrome, Marshall-Smith syndrome	Benign (Oct 27, 2022)	criteria provided, single submitter
Select item 145773162.	NM_001365902.3(NFIX):c.1073_1076del (p.Arg358fs) GRCh37: Chr19:13189544-13189547 GRCh38: Chr19:13078730-13078733	NFIX	R358fs, R350fs, R374fs, R366fs, R311fs, R357fs	Marshall-Smith syndrome, Malan overgrowth syndrome	Pathogenic (Dec 1, 2020)	criteria provided, single submitter
Select item 145360363.	NM_001365902.3(NFIX):c.149_155dup (p.Glu53fs) GRCh37: Chr19:13135952-13135953 GRCh38: Chr19:13025138-13025139	NFIX	E69fs, E6fs, E45fs, E52fs, E53fs, E61fs	Marshall-Smith syndrome, Malan overgrowth syndrome	Pathogenic (May 26, 2021)	criteria provided, single submitter
Select item 141003664.	NC_000019.9:g.(?_13186329)_(13189569_?)del GRCh37: Chr19:13186329-13189569	NFIX		Malan overgrowth syndrome, Marshall-Smith syndrome	Pathogenic (Oct 15, 2021)	criteria provided, single submitter
Select item 136875765.	NM_001365902.3(NFIX):c.1078+19C>T GRCh37: Chr19:13189568 GRCh38: Chr19:13078754	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 135230366.	NM_001365902.3(NFIX):c.286_300del (p.Thr96_Pro100del) GRCh37: Chr19:13136092-13136106 GRCh38: Chr19:13025278-13025292	NFIX		Malan overgrowth syndrome, Marshall-Smith syndrome	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 134249467.	NM_001365902.3(NFIX):c.586C>T (p.Gln196Ter) GRCh37: Chr19:13183887 GRCh38: Chr19:13073073	NFIX	Q149, Q188, Q195, Q196, Q204, Q212	Malan overgrowth syndrome, Marshall-Smith syndrome, Malan overgrowth syndrome	Pathogenic (Jul 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 133383968.	NM_001365902.3(NFIX):c.912_921dup (p.Gln308fs) GRCh37: Chr19:13186434-13186435 GRCh38: Chr19:13075620-13075621	NFIX	Q261fs, Q300fs, Q307fs, Q308fs, Q316fs, Q324fs	Marshall-Smith syndrome	Likely pathogenic (Aug 26, 2019)	criteria provided, single submitter
Select item 132480569.	NM_001365902.3(NFIX):c.373A>G (p.Lys125Glu) GRCh37: Chr19:13136180 GRCh38: Chr19:13025366	NFIX	K117E, K124E, K125E, K133E, K141E, K78E	not provided, Marshall-Smith syndrome, Malan overgrowth syndrome	Pathogenic/Likely pathogenic (Jan 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 132024370.	NM_001365902.3(NFIX):c.247_270del (p.Ile83_Asp90del) GRCh37: Chr19:13136049-13136072 GRCh38: Chr19:13025235-13025258	NFIX		Marshall-Smith syndrome	Likely pathogenic (Oct 2, 2021)	criteria provided, single submitter
Select item 131991271.	NM_001365902.3(NFIX):c.697+2T>G GRCh37: Chr19:13184312 GRCh38: Chr19:13073498	NFIX		Marshall-Smith syndrome	Pathogenic (Sep 24, 2021)	no assertion criteria provided
Select item 116743972.	NM_001365902.3(NFIX):c.1284G>A (p.Pro428=) GRCh37: Chr19:13198832 GRCh38: Chr19:13088018	NFIX		Malan overgrowth syndrome, Marshall-Smith syndrome	Benign (Oct 25, 2022)	criteria provided, single submitter
Select item 109374273.	NM_001365902.3(NFIX):c.843C>T (p.Ile281=) GRCh37: Chr19:13186373 GRCh38: Chr19:13075559	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Likely benign (Sep 23, 2020)	criteria provided, single submitter
Select item 108846674.	NM_001365902.3(NFIX):c.28-327C>T GRCh37: Chr19:13135508 GRCh38: Chr19:13024694	NFIX	T17M	Marshall-Smith syndrome, Malan overgrowth syndrome	Likely benign (Aug 10, 2018)	criteria provided, single submitter
Select item 107649875.	NM_001365902.3(NFIX):c.347G>A (p.Arg116Gln) GRCh37: Chr19:13136154 GRCh38: Chr19:13025340	NFIX	R108Q, R115Q, R116Q, R124Q, R132Q, R69Q	Malan overgrowth syndrome, Marshall-Smith syndrome, Malan overgrowth syndrome	Pathogenic (Mar 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107184976.	NM_001365902.3(NFIX):c.120C>G (p.Tyr40Ter) GRCh37: Chr19:13135927 GRCh38: Chr19:13025113	NFIX	Y32, Y39, Y40, Y48, Y56*	Marshall-Smith syndrome, Malan overgrowth syndrome	Pathogenic (Oct 11, 2020)	criteria provided, single submitter
Select item 103918277.	NM_001365902.3(NFIX):c.309C>G (p.Cys103Trp) GRCh37: Chr19:13136116 GRCh38: Chr19:13025302	NFIX	C102W, C119W, C95W, C103W, C111W, C56W	Marshall-Smith syndrome, Malan overgrowth syndrome	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 100848878.	NM_001365902.3(NFIX):c.379T>C (p.Trp127Arg) GRCh37: Chr19:13136186 GRCh38: Chr19:13025372	NFIX	W119R, W126R, W127R, W135R, W143R, W80R	Marshall-Smith syndrome, Malan overgrowth syndrome	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 98271679.	NM_001365902.3(NFIX):c.220del (p.Arg74fs) GRCh37: Chr19:13136025 GRCh38: Chr19:13025211	NFIX	R27fs, R66fs, R73fs, R74fs, R82fs, R90fs	Marshall-Smith syndrome, Malan overgrowth syndrome	Pathogenic/Likely pathogenic (Sep 2, 2020)	criteria provided, single submitter
Select item 96576580.	NM_001365902.3(NFIX):c.1247C>G (p.Thr416Ser) GRCh37: Chr19:13192662 GRCh38: Chr19:13081848	NFIX	T375S, T415S, T424S, T369S, T416S, T408S, T432S	Marshall-Smith syndrome, Malan overgrowth syndrome	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 95071681.	NM_001365902.3(NFIX):c.818+5G>A GRCh37: Chr19:13184845 GRCh38: Chr19:13074031	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Uncertain significance (Jul 5, 2019)	criteria provided, single submitter
Select item 93207082.	NM_001365902.3(NFIX):c.77del (p.Phe26fs) GRCh37: Chr19:13135882 GRCh38: Chr19:13025068	NFIX	F25fs, F34fs, F42fs, F26fs, F18fs	Marshall-Smith syndrome	Pathogenic (Mar 12, 2019)	criteria provided, single submitter
Select item 93183583.	NM_001365902.3(NFIX):c.1449del (p.Ile483fs) GRCh37: Chr19:13201159 GRCh38: Chr19:13090345	NFIX	I475fs, I499fs, S426fs, S433fs, S434fs, S387fs, I483fs, I482fs, I491fs, S393fs	Marshall-Smith syndrome	Likely pathogenic (Nov 1, 2018)	criteria provided, single submitter
Select item 93037184.	NM_001365902.3(NFIX):c.1139C>T (p.Ser380Leu) GRCh37: Chr19:13192554 GRCh38: Chr19:13081740	NFIX	S339L, S396L, S379L, S333L, S372L, S380L, S388L	Marshall-Smith syndrome	Uncertain significance (Jan 1, 2016)	criteria provided, single submitter
Select item 86483985.	NM_001365902.3(NFIX):c.818+561_956-804del GRCh37: Chr19:13185396-13188618 GRCh38: Chr19:13074582-13077804	NFIX		Marshall-Smith syndrome	Pathogenic (Apr 14, 2020)	no assertion criteria provided
Select item 86483886.	NM_001365902.3(NFIX):c.819-484_1079-700del GRCh37: Chr19:13185842-13191771 GRCh38: Chr19:13075028-13080957	NFIX		Marshall-Smith syndrome	Pathogenic (Apr 14, 2020)	no assertion criteria provided
Select item 86483787.	NM_001365902.3(NFIX):c.1456del (p.Arg486fs) GRCh37: Chr19:13201163 GRCh38: Chr19:13090349	NFIX	R485fs, R494fs, T391fs, T397fs, T438fs, R502fs, T437fs, R478fs, R486fs, T430fs	Marshall-Smith syndrome	Pathogenic (Apr 14, 2020)	no assertion criteria provided
Select item 86210088.	NM_001365902.3(NFIX):c.1423T>C (p.Ser475Pro) GRCh37: Chr19:13201133 GRCh38: Chr19:13090319	NFIX	S467P, S475P, S483P, S474P, S491P	Malan overgrowth syndrome, Marshall-Smith syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 84369789.	NM_001365902.3(NFIX):c.113G>T (p.Arg38Leu) GRCh37: Chr19:13135920 GRCh38: Chr19:13025106	NFIX	R30L, R46L, R37L, R38L, R54L	Marshall-Smith syndrome, Malan overgrowth syndrome	Uncertain significance (Mar 8, 2019)	criteria provided, single submitter
Select item 84227090.	NM_001365902.3(NFIX):c.60_75dup (p.Phe26fs) GRCh37: Chr19:13135863-13135864 GRCh38: Chr19:13025049-13025050	NFIX	F18fs, F25fs, F26fs, F42fs, F34fs	Malan overgrowth syndrome, Marshall-Smith syndrome	Pathogenic (May 25, 2019)	criteria provided, single submitter
Select item 83385891.	NM_001365902.3(NFIX):c.1235C>T (p.Ser412Leu) GRCh37: Chr19:13192650 GRCh38: Chr19:13081836	NFIX	S365L, S411L, S371L, S428L, S404L, S412L, S420L	Malan overgrowth syndrome, Marshall-Smith syndrome	Likely benign (Jul 23, 2019)	criteria provided, single submitter
Select item 83318792.	NC_000019.10:g.(?_13087969)_(13094669_?)del GRCh37: Chr19:13198783-13205483	NFIX		Malan overgrowth syndrome, Marshall-Smith syndrome	Pathogenic (Feb 23, 2019)	criteria provided, single submitter
Select item 80352993.	NM_001365902.3(NFIX):c.799_812del (p.Thr267fs) GRCh37: Chr19:13184819-13184832 GRCh38: Chr19:13074005-13074018	NFIX	T259fs, T275fs, T220fs, T267fs, T266fs, T283fs	Marshall-Smith syndrome	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 80352894.	NM_001365902.3(NFIX):c.327_340del (p.Gln110fs) GRCh37: Chr19:13136132-13136145 GRCh38: Chr19:13025318-13025331	NFIX	Q109fs, Q63fs, Q102fs, Q110fs, Q118fs, Q126fs	Marshall-Smith syndrome	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 80352795.	NM_001365902.3(NFIX):c.28-891dup GRCh37: Chr19:13134927-13134928 GRCh38: Chr19:13024113-13024114	NFIX		Marshall-Smith syndrome, not provided	Benign/Likely benign (Nov 1, 2019)	criteria provided, multiple submitters, no conflicts
Select item 78324996.	NM_001365902.3(NFIX):c.600G>A (p.Ala200=) GRCh37: Chr19:13183901 GRCh38: Chr19:13073087	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Likely benign (Sep 5, 2022)	criteria provided, single submitter
Select item 77870897.	NM_001365902.3(NFIX):c.560-6C>T GRCh37: Chr19:13183855 GRCh38: Chr19:13073041	NFIX		Marshall-Smith syndrome, Malan overgrowth syndrome	Likely benign (Nov 28, 2018)	criteria provided, single submitter
Select item 77126798.	NM_001365902.3(NFIX):c.252G>T (p.Arg84=) GRCh37: Chr19:13136059 GRCh38: Chr19:13025245	NFIX		Malan overgrowth syndrome, Marshall-Smith syndrome	Likely benign (Dec 31, 2019)	criteria provided, single submitter
Select item 76749299.	NM_001365902.3(NFIX):c.1236G>A (p.Ser412=) GRCh37: Chr19:13192651 GRCh38: Chr19:13081837	NFIX		Malan overgrowth syndrome, Marshall-Smith syndrome	Benign (Apr 8, 2022)	criteria provided, single submitter
Select item 761601100.	NM_001365902.3(NFIX):c.309C>T (p.Cys103=) GRCh37: Chr19:13136116 GRCh38: Chr19:13025302	NFIX		Malan overgrowth syndrome, Marshall-Smith syndrome	Likely benign (Jun 26, 2018)	criteria provided, single submitter

<< First< Prev

Page of 2