ClinVar for MedGen (Select 388083) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065312	NM_002180.3(IGHMBP2):c.1203C>G (p.His401Gln)	IGHMBP2 (H401Q)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1	GLikely pathogenic
Select item 2954300	NM_002180.3(IGHMBP2):c.150G>T (p.Leu50=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GLikely benign
Select item 2953873	NM_002180.3(IGHMBP2):c.913-8C>G	IGHMBP2	Single nucleotide variant (intron variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GLikely benign
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 2953280	NM_002180.3(IGHMBP2):c.1494G>A (p.Leu498=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2953267	NM_002180.3(IGHMBP2):c.2811C>T (p.Arg937=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2953057	NM_002180.3(IGHMBP2):c.2611+17G>C	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2953052	NM_002180.3(IGHMBP2):c.2785-4C>T	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2952995	NM_002180.3(IGHMBP2):c.588G>A (p.Gln196=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2952982	NM_002180.3(IGHMBP2):c.1470G>A (p.Leu490=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2952866	NM_002180.3(IGHMBP2):c.1538-9T>A	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2952816	NM_002180.3(IGHMBP2):c.1236-4G>T	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
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 2951571	NM_002180.3(IGHMBP2):c.915G>C (p.Val305=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2951519	NM_002180.3(IGHMBP2):c.2892C>G (p.Ala964=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2951364	NM_002180.3(IGHMBP2):c.72G>A (p.Glu24=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2951105	NM_002180.3(IGHMBP2):c.2612-20G>A	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2951006	NM_002180.3(IGHMBP2):c.318G>A (p.Leu106=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2950984	NM_002180.3(IGHMBP2):c.1161C>T (p.Ile387=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2950766	NM_002180.3(IGHMBP2):c.638A>C (p.His213Pro)	IGHMBP2 (H213P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely pathogenic
Select item 2950577	NM_002180.3(IGHMBP2):c.712-5C>T	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2950494	NM_002180.3(IGHMBP2):c.1824G>C (p.Val608=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2950122	NM_002180.3(IGHMBP2):c.1734C>T (p.Ser578=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
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 2950043	NM_002180.3(IGHMBP2):c.1416G>A (p.Leu472=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
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 2949686	NM_002180.3(IGHMBP2):c.2601A>G (p.Lys867=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2949561	NM_002180.3(IGHMBP2):c.2612-15dup	IGHMBP2	Duplication (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2949553	NM_002180.3(IGHMBP2):c.1235+17_1235+25del	IGHMBP2	Deletion (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2949407	NM_002180.3(IGHMBP2):c.912+13G>A	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2949008	NM_002180.3(IGHMBP2):c.2445A>G (p.Thr815=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2948972	NM_002180.3(IGHMBP2):c.2611+20C>T	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2948636	NM_002180.3(IGHMBP2):c.87-13G>C	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2948237	NM_002180.3(IGHMBP2):c.2238T>C (p.Phe746=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2948158	NM_002180.3(IGHMBP2):c.1235+18_1235+27del	IGHMBP2	Deletion (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2947972	NM_002180.3(IGHMBP2):c.1443A>G (p.Thr481=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2947936	NM_002180.3(IGHMBP2):c.2827A>T (p.Arg943Ter)	IGHMBP2 (R943*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 2947727	NM_002180.3(IGHMBP2):c.171T>C (p.Thr57=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2947616	NM_002180.3(IGHMBP2):c.1287G>A (p.Glu429=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2947472	NM_002180.3(IGHMBP2):c.2882_2885dup (p.Pro963fs)	IGHMBP2 (P963fs)	Duplication (frameshift variant)	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 2947357	NM_002180.3(IGHMBP2):c.2964G>A (p.Arg988=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2947314	NM_002180.3(IGHMBP2):c.1060+8G>C	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2947305	NM_002180.3(IGHMBP2):c.1008A>G (p.Ala336=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2947155	NM_002180.3(IGHMBP2):c.547+20C>G	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2946854	NM_002180.3(IGHMBP2):c.1317G>A (p.Thr439=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
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 2946667	NM_002180.3(IGHMBP2):c.2299C>T (p.Leu767=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2946661	NM_002180.3(IGHMBP2):c.1468T>C (p.Leu490=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2946657	NM_002180.3(IGHMBP2):c.1757-4G>A	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2946472	NM_002180.3(IGHMBP2):c.2532G>C (p.Ala844=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2946410	NM_002180.3(IGHMBP2):c.636C>A (p.Ile212=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2946089	NM_002180.3(IGHMBP2):c.867T>C (p.Ser289=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2945759	NM_002180.3(IGHMBP2):c.256+14G>A	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
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 2945576	NM_002180.3(IGHMBP2):c.2785-9C>T	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2945440	NM_002180.3(IGHMBP2):c.441A>T (p.Arg147=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2945292	NM_002180.3(IGHMBP2):c.1101C>T (p.Ser367=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2945117	NM_002180.3(IGHMBP2):c.1608T>A (p.Ala536=)	IGHMBP2, LOC126861245	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
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 2945001	NM_002180.3(IGHMBP2):c.846G>A (p.Ala282=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2944915	NM_002180.3(IGHMBP2):c.256+17C>T	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2944913	NM_002180.3(IGHMBP2):c.87-20C>A	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2944811	NM_002180.3(IGHMBP2):c.1741A>C (p.Arg581=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2944755	NM_002180.3(IGHMBP2):c.2848del (p.Leu950fs)	IGHMBP2 (L950fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 2944486	NM_002180.3(IGHMBP2):c.1165C>T (p.Leu389=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2944438	NM_002180.3(IGHMBP2):c.270C>T (p.Gly90=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
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 2944074	NM_002180.3(IGHMBP2):c.1578G>A (p.Val526=)	IGHMBP2, LOC126861245	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2943959	NM_002180.3(IGHMBP2):c.855G>T (p.Ala285=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
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 2943679	NM_002180.3(IGHMBP2):c.2202G>C (p.Val734=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2943661	NM_002180.3(IGHMBP2):c.39A>G (p.Gln13=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2943632	NM_002180.3(IGHMBP2):c.1537+18T>C	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2943610	NM_002180.3(IGHMBP2):c.1164C>G (p.Pro388=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2943580	NM_002180.3(IGHMBP2):c.1989C>T (p.Ala663=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
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 2943450	NM_002180.3(IGHMBP2):c.463C>T (p.Leu155=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2942816	NM_002180.3(IGHMBP2):c.449+17G>A	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2942667	NM_002180.3(IGHMBP2):c.195C>T (p.Val65=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2942577	NM_002180.3(IGHMBP2):c.1377G>C (p.Gly459=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2942573	NM_002180.3(IGHMBP2):c.1537+13G>A	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2942551	NM_002180.3(IGHMBP2):c.1632+16T>G	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2942419	NM_002180.3(IGHMBP2):c.1061-16T>C	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2942061	NM_002180.3(IGHMBP2):c.256+7del	IGHMBP2	Deletion (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2941794	NM_002180.3(IGHMBP2):c.1235+894C>T	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2941704	NM_002180.3(IGHMBP2):c.711+17A>G	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2941320	NM_002180.3(IGHMBP2):c.1398C>G (p.Ser466=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2941206	NM_002180.3(IGHMBP2):c.2736C>T (p.Phe912=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2940920	NM_002180.3(IGHMBP2):c.1538-7C>A	LOC126861245, IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2940819	NM_002180.3(IGHMBP2):c.2850C>T (p.Leu950=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2940511	NM_002180.3(IGHMBP2):c.1632+8G>A	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2940183	NM_002180.3(IGHMBP2):c.2787C>T (p.Ile929=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2940174	NM_002180.3(IGHMBP2):c.2817T>C (p.His939=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2940013	NM_002180.3(IGHMBP2):c.1806C>T (p.Thr602=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2939841	NM_002180.3(IGHMBP2):c.2262C>T (p.Asp754=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2939829	NM_002180.3(IGHMBP2):c.453C>A (p.Ala151=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2939624	NM_002180.3(IGHMBP2):c.2230T>C (p.Leu744=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign

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