ClinVar for PubMed (Select 14681881) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2953384	NM_002180.3(IGHMBP2):c.1082del (p.Leu361fs)	IGHMBP2 (L361fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 2952730	NM_002180.3(IGHMBP2):c.1214_1223dup (p.Val409fs)	IGHMBP2 (V409fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 2952062	NM_002180.3(IGHMBP2):c.1670del (p.Pro557fs)	IGHMBP2 (P557fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 2950068	NM_002180.3(IGHMBP2):c.797del (p.Gly266fs)	IGHMBP2 (G266fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 2949901	NM_002180.3(IGHMBP2):c.496_499del (p.Ser165_Leu166insTer)	IGHMBP2	Microsatellite (nonsense)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 2947400	NM_002180.3(IGHMBP2):c.2567C>A (p.Ser856Ter)	IGHMBP2 (S856*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 2946675	NM_002180.3(IGHMBP2):c.449+2del	IGHMBP2	Deletion (splice donor variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely pathogenic
Select item 2945664	NM_002180.3(IGHMBP2):c.1876del (p.Leu626fs)	IGHMBP2 (L626fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 2945030	NM_002180.3(IGHMBP2):c.688C>T (p.Gln230Ter)	IGHMBP2 (Q230*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 2944306	NM_002180.3(IGHMBP2):c.1230_1231del (p.His411fs)	IGHMBP2 (H411fs)	Microsatellite (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 2944127	NM_002180.3(IGHMBP2):c.1868dup (p.Leu623fs)	IGHMBP2 (L623fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 2943758	NM_002180.3(IGHMBP2):c.280_286del (p.Ala94fs)	IGHMBP2 (A94fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 2943560	NM_002180.3(IGHMBP2):c.905_912+85del	IGHMBP2	Deletion (splice donor variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely pathogenic
Select item 2938201	NM_002180.3(IGHMBP2):c.948_949del (p.Lys316_Ser317insTer)	IGHMBP2	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 2937112	NM_002180.3(IGHMBP2):c.1398del (p.Val467fs)	IGHMBP2 (V467fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 2932199	NM_002180.3(IGHMBP2):c.653del (p.Thr218fs)	IGHMBP2 (T218fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 2931459	NM_002180.3(IGHMBP2):c.86+1G>T	IGHMBP2	Single nucleotide variant (splice donor variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GLikely pathogenic
Select item 2930702	NM_002180.3(IGHMBP2):c.449+2T>A	IGHMBP2	Single nucleotide variant (splice donor variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GLikely pathogenic
Select item 2929158	NM_002180.3(IGHMBP2):c.1632+1G>T	IGHMBP2, LOC126861245	Single nucleotide variant (splice donor variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GLikely pathogenic
Select item 2928746	NM_002180.3(IGHMBP2):c.586C>T (p.Gln196Ter)	IGHMBP2 (Q196*)	Single nucleotide variant (nonsense)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 2927635	NM_002180.3(IGHMBP2):c.1354del (p.Ala452fs)	IGHMBP2 (A452fs)	Deletion (frameshift variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 2921563	NM_002180.3(IGHMBP2):c.711+1G>A	IGHMBP2	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 2635455	NM_002180.3(IGHMBP2):c.408_409del (p.Leu137fs)	IGHMBP2 (L137fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2S +2 more	GPathogenic/Likely pathogenic
Select item 2584463	NM_002180.3(IGHMBP2):c.1241_1254dup (p.Ser419fs)	IGHMBP2 (S419fs)	Duplication (frameshift variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic/Likely pathogenic
Select item 2424364	NC_000011.9:g.(?_68673517)_(68682511_?)del	IGHMBP2	Deletion	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 2424363	NC_000011.9:g.(?_68671421)_(68679091_?)del	IGHMBP2	Deletion	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 2157555	NM_002180.3(IGHMBP2):c.1969dup (p.Gln657fs)	IGHMBP2 (Q657fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 2130513	NM_002180.3(IGHMBP2):c.1919_1920dup (p.Glu641fs)	IGHMBP2 (E641fs)	Duplication (frameshift variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 2033010	NM_002180.3(IGHMBP2):c.317_318insA (p.Thr107fs)	IGHMBP2 (T107fs)	Insertion (frameshift variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 1963231	NM_002180.3(IGHMBP2):c.1235+1G>T	IGHMBP2	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely pathogenic
Select item 1945190	NM_002180.3(IGHMBP2):c.891del (p.Lys298fs)	IGHMBP2 (K298fs)	Deletion (frameshift variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 1451211	NM_002180.3(IGHMBP2):c.211C>T (p.Arg71Ter)	IGHMBP2 (R71*)	Single nucleotide variant (nonsense)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 1393140	NM_002180.3(IGHMBP2):c.467del (p.Lys156fs)	IGHMBP2 (K156fs)	Deletion (frameshift variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 1379465	NM_002180.3(IGHMBP2):c.1305_1350del (p.Arg436fs)	IGHMBP2 (R436fs)	Deletion (frameshift variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 1371633	NM_002180.3(IGHMBP2):c.696_700del (p.Lys233fs)	IGHMBP2 (K233fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 1175183	NM_002180.3(IGHMBP2):c.1061-2A>G	IGHMBP2	Single nucleotide variant (splice acceptor variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 1075876	NM_002180.3(IGHMBP2):c.373C>T (p.Gln125Ter)	IGHMBP2 (Q125*)	Single nucleotide variant (nonsense)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 1073962	NC_000011.9:g.(?_68671411)_(68707209_?)del	IGHMBP2	Deletion	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 1070991	NM_002180.3(IGHMBP2):c.763_767del (p.Leu255fs)	IGHMBP2 (L255fs)	Deletion (frameshift variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 1066593	NM_002180.3(IGHMBP2):c.1730T>G (p.Leu577Arg)	IGHMBP2 (L577R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 969391	NM_002180.3(IGHMBP2):c.673del (p.Val225fs)	IGHMBP2 (V225fs)	Deletion (frameshift variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 968421	NM_002180.3(IGHMBP2):c.1236-1G>T	IGHMBP2	Single nucleotide variant (splice acceptor variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GLikely pathogenic
Select item 954942	NM_002180.3(IGHMBP2):c.2611+1G>A	IGHMBP2	Single nucleotide variant (splice donor variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 940332	NM_002180.3(IGHMBP2):c.1225_1232del (p.Val409fs)	IGHMBP2 (V409fs)	Deletion (frameshift variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 860866	NM_002180.3(IGHMBP2):c.1702del (p.Gln568fs)	IGHMBP2 (Q568fs)	Deletion (frameshift variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 837509	NM_002180.3(IGHMBP2):c.216C>G (p.Tyr72Ter)	IGHMBP2 (Y72*)	Single nucleotide variant (nonsense)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 835758	NM_002180.3(IGHMBP2):c.2429del (p.Pro810fs)	IGHMBP2 (P810fs)	Deletion (frameshift variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 640505	NM_002180.3(IGHMBP2):c.133del (p.Val45fs)	IGHMBP2 (V45fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 637910	NM_002180.3(IGHMBP2):c.1909C>T (p.Arg637Cys)	IGHMBP2 (R637C)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GConflicting classifications of pathogenicity
Select item 637909	NM_002180.3(IGHMBP2):c.1756G>T (p.Gly586Cys)	IGHMBP2 (G586C)	Single nucleotide variant (missense variant)	Distal spinal muscular atrophy	GUncertain significance
Select item 637908	NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs)	IGHMBP2 (A786fs)	Deletion (frameshift variant)	Autosomal recessive distal spinal muscular atrophy 1 +2 more	GPathogenic
Select item 637906	NM_002180.3(IGHMBP2):c.163C>T (p.Gln55Ter)	IGHMBP2 (Q55*)	Single nucleotide variant (nonsense)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 637905	NM_002180.3(IGHMBP2):c.1748A>T (p.Asn583Ile)	IGHMBP2 (N583I)	Single nucleotide variant (missense variant)	Distal spinal muscular atrophy	GUncertain significance
Select item 637904	NM_002180.3(IGHMBP2):c.1648_1649insG (p.Gln550fs)	IGHMBP2 (Q550fs)	Insertion (frameshift variant)	Distal spinal muscular atrophy	GUncertain significance
Select item 637901	NM_002180.3(IGHMBP2):c.121del (p.Gln41fs)	IGHMBP2 (Q41fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 637900	NM_002180.3(IGHMBP2):c.1091T>C (p.Leu364Pro)	IGHMBP2 (L364P)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal dominant	GUncertain significance
Select item 637899	NM_002180.3(IGHMBP2):c.1060+1G>T	IGHMBP2	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely pathogenic
Select item 637699	NM_002180.3(IGHMBP2):c.1714_1716del (p.Lys572del)	IGHMBP2 (K572del)	Deletion (inframe_deletion)	Neuronopathy, distal hereditary motor, autosomal dominant +1 more	GUncertain significance
Select item 637698	NM_002180.3(IGHMBP2):c.114del (p.Glu39fs)	IGHMBP2 (E39fs)	Deletion (frameshift variant)	Neuronopathy, distal hereditary motor, autosomal dominant	GUncertain significance
Select item 637697	NM_002180.3(IGHMBP2):c.1000G>A (p.Glu334Lys)	IGHMBP2 (E334K)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GUncertain significance
Select item 637696	NM_002180.3(IGHMBP2):c.575T>C (p.Leu192Pro)	IGHMBP2 (L192P)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal dominant	GUncertain significance
Select item 637467	NM_002180.3(IGHMBP2):c.721T>C (p.Cys241Arg)	IGHMBP2 (C241R)	Single nucleotide variant (missense variant)	Distal spinal muscular atrophy	GUncertain significance
Select item 637465	NM_002180.3(IGHMBP2):c.661del (p.Thr221fs)	IGHMBP2 (T221fs)	Deletion (frameshift variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 637464	NM_002180.3(IGHMBP2):c.661A>G (p.Thr221Ala)	IGHMBP2 (T221A)	Single nucleotide variant (missense variant)	Distal spinal muscular atrophy	GUncertain significance
Select item 637459	NM_002180.3(IGHMBP2):c.1277T>C (p.Leu426Pro)	IGHMBP2 (L426P)	Single nucleotide variant (missense variant)	Distal spinal muscular atrophy	GUncertain significance
Select item 637456	NM_002180.3(IGHMBP2):c.1144G>A (p.Glu382Lys)	IGHMBP2 (E382K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 637270	NM_002180.3(IGHMBP2):c.780del (p.Gln260fs)	IGHMBP2 (Q260fs)	Deletion (frameshift variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 637269	NM_002180.3(IGHMBP2):c.711+1G>C	IGHMBP2	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 637264	NM_002180.3(IGHMBP2):c.1218del (p.Thr407fs)	IGHMBP2 (T407fs)	Deletion (frameshift variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 637263	NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter)	IGHMBP2 (R130*)	Single nucleotide variant (nonsense)	Autosomal recessive distal spinal muscular atrophy 1 +2 more	GPathogenic/Likely pathogenic
Select item 637262	NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter)	IGHMBP2 (R788*)	Single nucleotide variant (nonsense)	See cases +3 more	GPathogenic/Likely pathogenic
Select item 637261	NM_002180.3(IGHMBP2):c.2436del (p.Ala813fs)	IGHMBP2 (A813fs)	Deletion (frameshift variant)	Neuronopathy, distal hereditary motor, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 620136	NM_002180.3(IGHMBP2):c.1336C>T (p.Gln446Ter)	IGHMBP2 (Q446*)	Single nucleotide variant (nonsense)	Autosomal recessive distal spinal muscular atrophy 1 +3 more	GPathogenic
Select item 593474	NM_002180.3(IGHMBP2):c.242del (p.Asn81fs)	IGHMBP2 (N81fs)	Deletion (frameshift variant)	Autosomal recessive distal spinal muscular atrophy 1 +2 more	GPathogenic
Select item 582766	NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs)	IGHMBP2 (T439fs)	Duplication (frameshift variant)	Neuronopathy, distal hereditary motor, autosomal dominant 1 +2 more	GPathogenic/Likely pathogenic
Select item 581680	NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn)	IGHMBP2 (D565N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 580622	NM_002180.3(IGHMBP2):c.257-2A>G	IGHMBP2	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely pathogenic
Select item 574350	NM_002180.3(IGHMBP2):c.1516G>T (p.Glu506Ter)	IGHMBP2 (E506*)	Single nucleotide variant (nonsense)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 573404	NM_002180.3(IGHMBP2):c.1633-2A>G	IGHMBP2	Single nucleotide variant (splice acceptor variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GLikely pathogenic
Select item 571351	NM_002180.3(IGHMBP2):c.826C>T (p.Gln276Ter)	IGHMBP2 (Q276*)	Single nucleotide variant (nonsense)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 566209	NM_002180.3(IGHMBP2):c.2575C>T (p.Gln859Ter)	IGHMBP2 (Q859*)	Single nucleotide variant (nonsense)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 561032	NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter)	IGHMBP2 (R570*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 534927	NM_002180.3(IGHMBP2):c.449+1G>A	IGHMBP2	Single nucleotide variant (splice donor variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 522868	NM_002180.3(IGHMBP2):c.1730T>C (p.Leu577Pro)	IGHMBP2 (L577P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +2 more	GConflicting classifications of pathogenicity
Select item 522258	NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter)	IGHMBP2 (Q302*)	Single nucleotide variant (nonsense)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic/Likely pathogenic
Select item 521206	NM_002180.3(IGHMBP2):c.439C>T (p.Arg147Ter)	IGHMBP2 (R147*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +3 more	GPathogenic
Select item 488695	NM_002180.3(IGHMBP2):c.2368C>T (p.Arg790Ter)	IGHMBP2 (R790*)	Single nucleotide variant (nonsense)	Autosomal recessive distal spinal muscular atrophy 1 +3 more	GPathogenic
Select item 488694	NM_002180.3(IGHMBP2):c.1813C>T (p.Arg605Ter)	IGHMBP2 (R605*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 466583	NM_002180.3(IGHMBP2):c.1681dup (p.Ile561fs)	IGHMBP2 (I561fs)	Duplication (frameshift variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 424782	NM_002180.2(IGHMBP2):c.[660A>C];[92G>A]			Autosomal recessive distal spinal muscular atrophy 1	GLikely pathogenic
Select item 374169	NM_002180.3(IGHMBP2):c.958C>T (p.Arg320Ter)	IGHMBP2 (R320*)	Single nucleotide variant (nonsense)	Autosomal recessive distal spinal muscular atrophy 1 +6 more	GPathogenic/Likely pathogenic
Select item 373749	NM_002180.3(IGHMBP2):c.547+1G>A	IGHMBP2	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease axonal type 2S +2 more	GPathogenic/Likely pathogenic
Select item 287978	NM_002180.3(IGHMBP2):c.2598_2599del (p.Lys868fs)	IGHMBP2 (K868fs)	Deletion (frameshift variant)	Autosomal recessive distal spinal muscular atrophy 1 +2 more	GPathogenic
Select item 282335	NM_002180.3(IGHMBP2):c.2560C>T (p.Gln854Ter)	IGHMBP2 (Q854*)	Single nucleotide variant (nonsense)	Autosomal recessive distal spinal muscular atrophy 1 +2 more	GPathogenic
Select item 245627	NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro)	IGHMBP2 (L361P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 242499	NM_002180.3(IGHMBP2):c.92G>A (p.Trp31Ter)	IGHMBP2 (W31*)	Single nucleotide variant (nonsense)	Clonus +8 more	GPathogenic
Select item 235774	NM_002180.3(IGHMBP2):c.1808G>A (p.Arg603His)	IGHMBP2 (R603H)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +3 more	GConflicting classifications of pathogenicity
Select item 234316	NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)	IGHMBP2 (C496*)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 228355	NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter)	IGHMBP2 (R43*)	Single nucleotide variant (nonsense)	Autosomal recessive distal spinal muscular atrophy 1 +4 more	GPathogenic
Select item 217449	NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs)	IGHMBP2 (K328fs)	Microsatellite (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic

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