ClinVar for MedGen (Select 388083) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25009291.	NM_002180.3(IGHMBP2):c.1235+600_1235+601insCTGGAGCCCTGATGCG GRCh37: Chr11:68697425-68697426 GRCh38: Chr11:68929957-68929958	IGHMBP2		Autosomal recessive distal spinal muscular atrophy 1	Uncertain significance (May 2, 2023)	criteria provided, single submitter
Select item 25009232.	NM_002180.3(IGHMBP2):c.256+138A>G GRCh37: Chr11:68673844 GRCh38: Chr11:68906376	IGHMBP2		Autosomal recessive distal spinal muscular atrophy 1	Benign (May 2, 2023)	criteria provided, single submitter
Select item 24243653.	NC_000011.9:g.(?_68682271)_(68682511_?)del GRCh37: Chr11:68682271-68682511	IGHMBP2		Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Pathogenic (Aug 6, 2021)	criteria provided, single submitter
Select item 24243644.	NC_000011.9:g.(?_68673517)_(68682511_?)del GRCh37: Chr11:68673517-68682511	IGHMBP2		Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Pathogenic (Sep 28, 2022)	criteria provided, single submitter
Select item 24243635.	NC_000011.9:g.(?_68671421)_(68679091_?)del GRCh37: Chr11:68671421-68679091	IGHMBP2		Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Pathogenic (Apr 13, 2022)	criteria provided, single submitter
Select item 24153736.	NM_002180.3(IGHMBP2):c.87-9G>A GRCh37: Chr11:68673528 GRCh38: Chr11:68906060	IGHMBP2		Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 24135027.	NM_002180.3(IGHMBP2):c.12A>G (p.Ala4=) GRCh37: Chr11:68671432 GRCh38: Chr11:68903964	IGHMBP2		Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 21989588.	NM_002180.3(IGHMBP2):c.1632+15T>A GRCh37: Chr11:68702041 GRCh38: Chr11:68934573	IGHMBP2, LOC126861245		Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 21971819.	NM_002180.3(IGHMBP2):c.1638C>T (p.Asp546=) GRCh37: Chr11:68702772 GRCh38: Chr11:68935304	IGHMBP2		Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 219458510.	NM_002180.3(IGHMBP2):c.2785-8C>T GRCh37: Chr11:68706994 GRCh38: Chr11:68939526	IGHMBP2		Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 219364911.	NM_002180.3(IGHMBP2):c.1617G>A (p.Ser539=) GRCh37: Chr11:68702011 GRCh38: Chr11:68934543	LOC126861245, IGHMBP2		Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 219319512.	NM_002180.3(IGHMBP2):c.2607C>T (p.Ala869=) GRCh37: Chr11:68704555 GRCh38: Chr11:68937087	IGHMBP2		Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 219023113.	NM_002180.3(IGHMBP2):c.2183A>G (p.His728Arg) GRCh37: Chr11:68704131 GRCh38: Chr11:68936663	IGHMBP2	H728R	Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Uncertain significance (Dec 19, 2021)	criteria provided, single submitter
Select item 218282414.	NM_002180.3(IGHMBP2):c.1095C>T (p.Pro365=) GRCh37: Chr11:68696685 GRCh38: Chr11:68929217	IGHMBP2		Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 217958715.	NM_002180.3(IGHMBP2):c.2785-13G>C GRCh37: Chr11:68706989 GRCh38: Chr11:68939521	IGHMBP2		Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 216722116.	NM_002180.3(IGHMBP2):c.1503G>T (p.Leu501=) GRCh37: Chr11:68701347 GRCh38: Chr11:68933879	IGHMBP2		Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 216678717.	NM_002180.3(IGHMBP2):c.1713G>A (p.Glu571=) GRCh37: Chr11:68702847 GRCh38: Chr11:68935379	IGHMBP2		Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 216422518.	NM_002180.3(IGHMBP2):c.2392G>A (p.Gly798Arg) GRCh37: Chr11:68704340 GRCh38: Chr11:68936872	IGHMBP2	G798R	Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 215755519.	NM_002180.3(IGHMBP2):c.1969dup (p.Gln657fs) GRCh37: Chr11:68703914-68703915 GRCh38: Chr11:68936446-68936447	IGHMBP2	Q657fs	Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Pathogenic (Aug 23, 2022)	criteria provided, single submitter
Select item 215721920.	NM_002180.3(IGHMBP2):c.553C>T (p.Leu185=) GRCh37: Chr11:68678913 GRCh38: Chr11:68911445	IGHMBP2		Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Likely benign (Mar 5, 2022)	criteria provided, single submitter
Select item 215361921.	NM_002180.3(IGHMBP2):c.2442G>A (p.Gln814=) GRCh37: Chr11:68704390 GRCh38: Chr11:68936922	IGHMBP2		Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Likely benign (Jul 4, 2022)	criteria provided, single submitter
Select item 215294822.	NM_002180.3(IGHMBP2):c.254C>T (p.Ser85Phe) GRCh37: Chr11:68673704 GRCh38: Chr11:68906236	IGHMBP2	S85F	Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 214836423.	NM_002180.3(IGHMBP2):c.1086G>A (p.Lys362=) GRCh37: Chr11:68696676 GRCh38: Chr11:68929208	IGHMBP2		Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 214493224.	NM_002180.3(IGHMBP2):c.1011T>G (p.Ala337=) GRCh37: Chr11:68685302 GRCh38: Chr11:68917834	IGHMBP2		Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 214034825.	NM_002180.3(IGHMBP2):c.712-13T>C GRCh37: Chr11:68682278 GRCh38: Chr11:68914810	IGHMBP2		Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 214034726.	NM_002180.3(IGHMBP2):c.1632+13C>T GRCh37: Chr11:68702039 GRCh38: Chr11:68934571	LOC126861245, IGHMBP2		Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 213918827.	NM_002180.3(IGHMBP2):c.2781C>T (p.Pro927=) GRCh37: Chr11:68705819 GRCh38: Chr11:68938351	IGHMBP2		Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 213526828.	NM_002180.3(IGHMBP2):c.617A>G (p.Gln206Arg) GRCh37: Chr11:68678977 GRCh38: Chr11:68911509	IGHMBP2	Q206R	Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 213395629.	NM_002180.3(IGHMBP2):c.1235+13T>C GRCh37: Chr11:68696838 GRCh38: Chr11:68929370	IGHMBP2		Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 213344430.	NM_002180.3(IGHMBP2):c.2946C>T (p.Asn982=) GRCh37: Chr11:68707163 GRCh38: Chr11:68939695	IGHMBP2		Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 213051331.	NM_002180.3(IGHMBP2):c.1919_1920dup (p.Glu641fs) GRCh37: Chr11:68703865-68703866 GRCh38: Chr11:68936397-68936398	IGHMBP2	E641fs	Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Pathogenic (Apr 26, 2022)	criteria provided, single submitter
Select item 212971332.	NM_002180.3(IGHMBP2):c.1244T>A (p.Leu415Gln) GRCh37: Chr11:68700775 GRCh38: Chr11:68933307	IGHMBP2	L415Q	Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 212375733.	NM_002180.3(IGHMBP2):c.2349C>T (p.Ser783=) GRCh37: Chr11:68704297 GRCh38: Chr11:68936829	IGHMBP2		Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 211974334.	NM_002180.3(IGHMBP2):c.364C>A (p.His122Asn) GRCh37: Chr11:68675720 GRCh38: Chr11:68908252	IGHMBP2	H122N	Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 211184035.	NM_002180.3(IGHMBP2):c.1460C>G (p.Pro487Arg) GRCh37: Chr11:68701304 GRCh38: Chr11:68933836	IGHMBP2	P487R	Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 210929436.	NM_002180.3(IGHMBP2):c.435C>T (p.Tyr145=) GRCh37: Chr11:68675791 GRCh38: Chr11:68908323	IGHMBP2		Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 210609537.	NM_002180.3(IGHMBP2):c.1214C>G (p.Pro405Arg) GRCh37: Chr11:68696804 GRCh38: Chr11:68929336	IGHMBP2	P405R	Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 210593838.	NM_002180.3(IGHMBP2):c.2963G>A (p.Arg988Lys) GRCh37: Chr11:68707180 GRCh38: Chr11:68939712	IGHMBP2	R988K	Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 210284339.	NM_002180.3(IGHMBP2):c.2852A>G (p.Tyr951Cys) GRCh37: Chr11:68707069 GRCh38: Chr11:68939601	IGHMBP2	Y951C	Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Uncertain significance (Jul 8, 2022)	criteria provided, single submitter
Select item 210278840.	NM_002180.3(IGHMBP2):c.2266C>T (p.Leu756=) GRCh37: Chr11:68704214 GRCh38: Chr11:68936746	IGHMBP2		Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 209575341.	NM_002180.3(IGHMBP2):c.521C>T (p.Ser174Phe) GRCh37: Chr11:68676073 GRCh38: Chr11:68908605	IGHMBP2	S174F	Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Uncertain significance (Mar 5, 2022)	criteria provided, single submitter
Select item 209002642.	NM_002180.3(IGHMBP2):c.1859A>G (p.His620Arg) GRCh37: Chr11:68703807 GRCh38: Chr11:68936339	IGHMBP2	H620R	Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 208927043.	NM_002180.3(IGHMBP2):c.1060+18T>A GRCh37: Chr11:68685369 GRCh38: Chr11:68917901	IGHMBP2		Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 208458344.	NM_002180.3(IGHMBP2):c.70G>A (p.Glu24Lys) GRCh37: Chr11:68671490 GRCh38: Chr11:68904022	IGHMBP2	E24K	Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Uncertain significance (Jan 20, 2022)	criteria provided, single submitter
Select item 208065545.	NM_002180.3(IGHMBP2):c.2788C>T (p.His930Tyr) GRCh37: Chr11:68707005 GRCh38: Chr11:68939537	IGHMBP2	H930Y	Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 208054546.	NM_002180.3(IGHMBP2):c.1413C>G (p.Leu471=) GRCh37: Chr11:68700944 GRCh38: Chr11:68933476	IGHMBP2		Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 207982247.	NM_002180.3(IGHMBP2):c.1061-20C>A GRCh37: Chr11:68696631 GRCh38: Chr11:68929163	IGHMBP2		Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 207832048.	NM_002180.3(IGHMBP2):c.257-10G>C GRCh37: Chr11:68675603 GRCh38: Chr11:68908135	IGHMBP2		Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 207812049.	NM_002180.3(IGHMBP2):c.2437G>A (p.Ala813Thr) GRCh37: Chr11:68704385 GRCh38: Chr11:68936917	IGHMBP2	A813T	Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Uncertain significance (Jan 12, 2022)	criteria provided, single submitter
Select item 207685650.	NM_002180.3(IGHMBP2):c.2784+15C>A GRCh37: Chr11:68705837 GRCh38: Chr11:68938369	IGHMBP2		Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 207515651.	NM_002180.3(IGHMBP2):c.926A>T (p.Lys309Met) GRCh37: Chr11:68685217 GRCh38: Chr11:68917749	IGHMBP2	K309M	Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Uncertain significance (Jan 13, 2022)	criteria provided, single submitter
Select item 207514152.	NM_002180.3(IGHMBP2):c.2240C>G (p.Pro747Arg) GRCh37: Chr11:68704188 GRCh38: Chr11:68936720	IGHMBP2	P747R	Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Uncertain significance (Jan 5, 2022)	criteria provided, single submitter
Select item 207357553.	NM_002180.3(IGHMBP2):c.1419-10T>C GRCh37: Chr11:68701253 GRCh38: Chr11:68933785	IGHMBP2		Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Likely benign (Jan 20, 2022)	criteria provided, single submitter
Select item 207013254.	NM_002180.3(IGHMBP2):c.2863G>A (p.Gly955Arg) GRCh37: Chr11:68707080 GRCh38: Chr11:68939612	IGHMBP2	G955R	Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 206782755.	NM_002180.3(IGHMBP2):c.2785-7_2785-4del GRCh37: Chr11:68706993-68706996 GRCh38: Chr11:68939525-68939528	IGHMBP2		Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Uncertain significance (Dec 31, 2021)	criteria provided, single submitter
Select item 206630756.	NM_002180.3(IGHMBP2):c.849T>C (p.Val283=) GRCh37: Chr11:68682428 GRCh38: Chr11:68914960	IGHMBP2		Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 206629557.	NM_002180.3(IGHMBP2):c.712-10C>T GRCh37: Chr11:68682281 GRCh38: Chr11:68914813	IGHMBP2		Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Likely benign (Oct 24, 2020)	criteria provided, single submitter
Select item 206481358.	NM_002180.3(IGHMBP2):c.1681A>G (p.Ile561Val) GRCh37: Chr11:68702815 GRCh38: Chr11:68935347	IGHMBP2	I561V	Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 205766159.	NM_002180.3(IGHMBP2):c.2427C>T (p.Pro809=) GRCh37: Chr11:68704375 GRCh38: Chr11:68936907	IGHMBP2		Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Likely benign (Sep 4, 2022)	criteria provided, single submitter
Select item 205592660.	NM_002180.3(IGHMBP2):c.264C>T (p.Ile88=) GRCh37: Chr11:68675620 GRCh38: Chr11:68908152	IGHMBP2		Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 205375661.	NM_002180.3(IGHMBP2):c.2132G>C (p.Ser711Thr) GRCh37: Chr11:68704080 GRCh38: Chr11:68936612	IGHMBP2	S711T	Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Uncertain significance (Dec 22, 2021)	criteria provided, single submitter
Select item 205341062.	NM_002180.3(IGHMBP2):c.912+4G>C GRCh37: Chr11:68682495 GRCh38: Chr11:68915027	IGHMBP2		Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 205279763.	NM_002180.3(IGHMBP2):c.1160T>A (p.Ile387Asn) GRCh37: Chr11:68696750 GRCh38: Chr11:68929282	IGHMBP2	I387N	Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Uncertain significance (Dec 22, 2021)	criteria provided, single submitter
Select item 205138064.	NM_002180.3(IGHMBP2):c.538A>G (p.Ser180Gly) GRCh37: Chr11:68676090 GRCh38: Chr11:68908622	IGHMBP2	S180G	Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 205098265.	NM_002180.3(IGHMBP2):c.257-11T>C GRCh37: Chr11:68675602 GRCh38: Chr11:68908134	IGHMBP2		Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 204635366.	NM_002180.3(IGHMBP2):c.2558A>G (p.Gln853Arg) GRCh37: Chr11:68704506 GRCh38: Chr11:68937038	IGHMBP2	Q853R	Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Uncertain significance (Dec 18, 2021)	criteria provided, single submitter
Select item 204454067.	NM_002180.3(IGHMBP2):c.613T>C (p.Ser205Pro) GRCh37: Chr11:68678973 GRCh38: Chr11:68911505	IGHMBP2	S205P	Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 204275768.	NM_002180.3(IGHMBP2):c.1372C>T (p.Leu458Phe) GRCh37: Chr11:68700903 GRCh38: Chr11:68933435	IGHMBP2	L458F	Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 204229869.	NM_002180.3(IGHMBP2):c.2809C>T (p.Arg937Cys) GRCh37: Chr11:68707026 GRCh38: Chr11:68939558	IGHMBP2	R937C	Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Uncertain significance (Feb 1, 2022)	criteria provided, single submitter
Select item 203925770.	NM_002180.3(IGHMBP2):c.1291G>A (p.Gly431Ser) GRCh37: Chr11:68700822 GRCh38: Chr11:68933354	IGHMBP2	G431S	Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 203620371.	NM_002180.3(IGHMBP2):c.486A>G (p.Pro162=) GRCh37: Chr11:68676038 GRCh38: Chr11:68908570	IGHMBP2		Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 203342472.	NM_002180.3(IGHMBP2):c.1757-17C>T GRCh37: Chr11:68703688 GRCh38: Chr11:68936220	IGHMBP2		Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 203301073.	NM_002180.3(IGHMBP2):c.317_318insA (p.Thr107fs) GRCh37: Chr11:68675673-68675674 GRCh38: Chr11:68908205-68908206	IGHMBP2	T107fs	Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Pathogenic (Sep 27, 2022)	criteria provided, single submitter
Select item 203118274.	NM_002180.3(IGHMBP2):c.449+13G>A GRCh37: Chr11:68675818 GRCh38: Chr11:68908350	IGHMBP2		Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 203095975.	NM_002180.3(IGHMBP2):c.1418+4_1418+5del GRCh37: Chr11:68700952-68700953 GRCh38: Chr11:68933484-68933485	IGHMBP2		Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Uncertain significance (Sep 17, 2022)	criteria provided, single submitter
Select item 203076076.	NM_002180.3(IGHMBP2):c.375G>T (p.Gln125His) GRCh37: Chr11:68675731 GRCh38: Chr11:68908263	IGHMBP2	Q125H	Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Uncertain significance (Sep 3, 2022)	criteria provided, single submitter
Select item 203057877.	NM_002180.3(IGHMBP2):c.1236-17C>T GRCh37: Chr11:68700750 GRCh38: Chr11:68933282	IGHMBP2		Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 202338978.	NM_002180.3(IGHMBP2):c.449+8G>C GRCh37: Chr11:68675813 GRCh38: Chr11:68908345	IGHMBP2		Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 201460479.	NM_002180.3(IGHMBP2):c.2711C>T (p.Ala904Val) GRCh37: Chr11:68705749 GRCh38: Chr11:68938281	IGHMBP2	A904V	Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 201460080.	NM_002180.3(IGHMBP2):c.2894A>G (p.Lys965Arg) GRCh37: Chr11:68707111 GRCh38: Chr11:68939643	IGHMBP2	K965R	Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 200279881.	NM_002180.3(IGHMBP2):c.1892C>G (p.Thr631Arg) GRCh37: Chr11:68703840 GRCh38: Chr11:68936372	IGHMBP2	T631R	Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 199887982.	NM_002180.3(IGHMBP2):c.2452C>A (p.Pro818Thr) GRCh37: Chr11:68704400 GRCh38: Chr11:68936932	IGHMBP2	P818T	Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 199428783.	NM_002180.3(IGHMBP2):c.1328G>C (p.Arg443Pro) GRCh37: Chr11:68700859 GRCh38: Chr11:68933391	IGHMBP2	R443P	Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 199358684.	NM_002180.3(IGHMBP2):c.189G>C (p.Leu63=) GRCh37: Chr11:68673639 GRCh38: Chr11:68906171	IGHMBP2		Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 198896585.	NM_002180.3(IGHMBP2):c.1633-15C>T GRCh37: Chr11:68702752 GRCh38: Chr11:68935284	IGHMBP2		Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 198543786.	NM_002180.3(IGHMBP2):c.548-9C>T GRCh37: Chr11:68678899 GRCh38: Chr11:68911431	IGHMBP2		Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 198389687.	NM_002180.3(IGHMBP2):c.2152G>C (p.Glu718Gln) GRCh37: Chr11:68704100 GRCh38: Chr11:68936632	IGHMBP2	E718Q	Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 197555388.	NM_002180.3(IGHMBP2):c.746A>G (p.Asp249Gly) GRCh37: Chr11:68682325 GRCh38: Chr11:68914857	IGHMBP2	D249G	Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 196973689.	NM_002180.3(IGHMBP2):c.711+16C>T GRCh37: Chr11:68679087 GRCh38: Chr11:68911619	IGHMBP2		Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Likely benign (Feb 27, 2022)	criteria provided, single submitter
Select item 196823290.	NM_002180.3(IGHMBP2):c.1757-9C>T GRCh37: Chr11:68703696 GRCh38: Chr11:68936228	IGHMBP2		Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Likely benign (Sep 5, 2022)	criteria provided, single submitter
Select item 196779391.	NM_002180.3(IGHMBP2):c.516C>T (p.Gly172=) GRCh37: Chr11:68676068 GRCh38: Chr11:68908600	IGHMBP2		Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 196323192.	NM_002180.3(IGHMBP2):c.1235+1G>T GRCh37: Chr11:68696826 GRCh38: Chr11:68929358	IGHMBP2		Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Likely pathogenic (Aug 13, 2022)	criteria provided, single submitter
Select item 196019193.	NM_002180.3(IGHMBP2):c.660A>T (p.Lys220Asn) GRCh37: Chr11:68679020 GRCh38: Chr11:68911552	IGHMBP2	K220N	Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Uncertain significance (Apr 27, 2022)	criteria provided, single submitter
Select item 194896894.	NM_002180.3(IGHMBP2):c.551C>G (p.Pro184Arg) GRCh37: Chr11:68678911 GRCh38: Chr11:68911443	IGHMBP2	P184R	Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 194519095.	NM_002180.3(IGHMBP2):c.891del (p.Lys298fs) GRCh37: Chr11:68682469 GRCh38: Chr11:68915001	IGHMBP2	K298fs	Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Pathogenic (Apr 7, 2022)	criteria provided, single submitter
Select item 194013496.	NM_002180.3(IGHMBP2):c.1218C>G (p.Pro406=) GRCh37: Chr11:68696808 GRCh38: Chr11:68929340	IGHMBP2		Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 193137197.	NM_002180.3(IGHMBP2):c.1633-12C>G GRCh37: Chr11:68702755 GRCh38: Chr11:68935287	IGHMBP2		Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 193101098.	NM_002180.3(IGHMBP2):c.547+15G>A GRCh37: Chr11:68676114 GRCh38: Chr11:68908646	IGHMBP2		Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 192804599.	NM_002180.3(IGHMBP2):c.273G>A (p.Leu91=) GRCh37: Chr11:68675629 GRCh38: Chr11:68908161	IGHMBP2		Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 1923932100.	NM_002180.3(IGHMBP2):c.87-11G>A GRCh37: Chr11:68673526 GRCh38: Chr11:68906058	IGHMBP2		Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S	Likely benign (Apr 7, 2022)	criteria provided, single submitter

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