ClinVar for MedGen (Select 388083) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3891376	NM_002180.3(IGHMBP2):c.509T>G (p.Leu170Arg)	IGHMBP2 (L170R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GUncertain significance
Select item 3775517	NM_002180.3(IGHMBP2):c.2276del (p.His759fs)	IGHMBP2 (H759fs)	Deletion (frameshift variant)	Autosomal recessive distal spinal muscular atrophy 1	GPathogenic
Select item 3764048	NM_002180.3(IGHMBP2):c.913-12T>A	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3763972	NM_002180.3(IGHMBP2):c.2530G>A (p.Ala844Thr)	IGHMBP2 (A844T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GUncertain significance
Select item 3763566	NM_002180.3(IGHMBP2):c.1039G>A (p.Val347Met)	IGHMBP2 (V347M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GUncertain significance
Select item 3763348	NM_002180.3(IGHMBP2):c.189G>A (p.Leu63=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3763325	NM_002180.3(IGHMBP2):c.1632+5G>A	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GUncertain significance
Select item 3762360	NM_002180.3(IGHMBP2):c.1633-7G>A	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3762341	NM_002180.3(IGHMBP2):c.1224A>G (p.Thr408=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3762252	NM_002180.3(IGHMBP2):c.87-18A>G	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3762003	NM_002180.3(IGHMBP2):c.1061-17C>T	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3761769	NM_002180.3(IGHMBP2):c.257-4G>C	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3761602	NM_002180.3(IGHMBP2):c.1061-7C>T	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3760951	NM_002180.3(IGHMBP2):c.2565C>G (p.Ala855=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3759472	NM_002180.3(IGHMBP2):c.52del (p.Glu18fs)	IGHMBP2 (E18fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 3758841	NM_002180.3(IGHMBP2):c.803del (p.Pro268fs)	IGHMBP2 (P268fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 3758355	NM_002180.3(IGHMBP2):c.1296G>C (p.Ala432=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3757117	NM_002180.3(IGHMBP2):c.2003del (p.Gly668fs)	IGHMBP2 (G668fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 3756355	NM_002180.3(IGHMBP2):c.1575G>A (p.Leu525=)	IGHMBP2, LOC126861245	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3755005	NM_002180.3(IGHMBP2):c.450-4G>A	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3754694	NM_002180.3(IGHMBP2):c.1952_1953del (p.Tyr651fs)	IGHMBP2 (Y651fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 3754597	NM_002180.3(IGHMBP2):c.1692C>G (p.Val564=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3754587	NM_002180.3(IGHMBP2):c.912+15C>G	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3754572	NM_002180.3(IGHMBP2):c.1480del (p.Ala494fs)	IGHMBP2 (A494fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 3753960	NM_002180.3(IGHMBP2):c.450-4G>T	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3753753	NM_002180.3(IGHMBP2):c.1694A>G (p.Asp565Gly)	IGHMBP2 (D565G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely pathogenic
Select item 3753752	NM_002180.3(IGHMBP2):c.1154G>T (p.Cys385Phe)	IGHMBP2 (C385F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GUncertain significance
Select item 3753291	NM_002180.3(IGHMBP2):c.1351T>C (p.Trp451Arg)	IGHMBP2 (W451R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely pathogenic
Select item 3752842	NM_002180.3(IGHMBP2):c.2612-12G>A	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3752831	NM_002180.3(IGHMBP2):c.2286C>G (p.Ala762=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3752727	NM_002180.3(IGHMBP2):c.438G>A (p.Arg146=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3751873	NM_002180.3(IGHMBP2):c.450-6T>C	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3751638	NM_002180.3(IGHMBP2):c.1537+15A>C	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3751534	NM_002180.3(IGHMBP2):c.850T>C (p.Leu284=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3751450	NM_002180.3(IGHMBP2):c.1757-1G>A	IGHMBP2	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely pathogenic
Select item 3750955	NM_002180.3(IGHMBP2):c.1757-4G>T	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3750949	NM_002180.3(IGHMBP2):c.1275C>T (p.Arg425=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3750907	NM_002180.3(IGHMBP2):c.257-15T>G	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3750863	NM_002180.3(IGHMBP2):c.449+7G>T	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3749902	NM_002180.3(IGHMBP2):c.1756+16C>T	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3749004	NM_002180.3(IGHMBP2):c.1218C>T (p.Pro406=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3748939	NM_002180.3(IGHMBP2):c.612G>C (p.Leu204=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3748874	NM_002180.3(IGHMBP2):c.552G>T (p.Pro184=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3748520	NM_002180.3(IGHMBP2):c.729C>T (p.Pro243=)	IGHMBP2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3748396	NM_002180.3(IGHMBP2):c.1757-5dup	IGHMBP2	Duplication (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GBenign
Select item 3748214	NM_002180.3(IGHMBP2):c.1419-12C>T	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3573958	NM_002180.3(IGHMBP2):c.2610del (p.Gly871fs)	IGHMBP2 (G871fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely pathogenic
Select item 3573957	NM_002180.3(IGHMBP2):c.2533C>T (p.Gln845Ter)	IGHMBP2 (Q845*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely pathogenic
Select item 3573956	NM_002180.3(IGHMBP2):c.2098A>T (p.Lys700Ter)	IGHMBP2 (K700*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely pathogenic
Select item 3573954	NM_002180.3(IGHMBP2):c.1444G>A (p.Glu482Lys)	IGHMBP2 (E482K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GUncertain significance
Select item 3573953	NM_002180.3(IGHMBP2):c.1235+2T>C	IGHMBP2	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely pathogenic
Select item 3393212	NM_002180.3(IGHMBP2):c.232C>A (p.Leu78Ile)	IGHMBP2 (L78I)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1	GUncertain significance
Select item 3244648	NC_000011.9:g.(?_68696951)_(68704375_?)del	IGHMBP2	Deletion	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 3244647	NC_000011.9:g.(?_68685184)_(68685371_?)dup	IGHMBP2	Duplication	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely pathogenic
Select item 3244646	NC_000011.9:g.(?_68696631)_(68707199_?)del	IGHMBP2	Deletion	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 3244645	NC_000011.9:g.(?_68682271)_(68685371_?)del	IGHMBP2	Deletion	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 3244644	NC_000011.9:g.(?_68701912)_(68707199_?)del	IGHMBP2	Deletion	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 3234847	NM_002180.3(IGHMBP2):c.86+2T>C	IGHMBP2	Single nucleotide variant (splice donor variant)	Autosomal recessive distal spinal muscular atrophy 1	GLikely pathogenic
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)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 2953873	NM_002180.3(IGHMBP2):c.913-8C>G	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +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

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