ClinVar for MedGen (Select 338346) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248445	NC_000019.9:g.(?_10904376)_(10941723_?)dup	DNM2, MIR199A1	Duplication	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 3248444	NC_000019.9:g.(?_10870394)_(10870507_?)dup	DNM2	Duplication	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 3248443	NC_000019.9:g.(?_10870394)_(10941723_?)del	DNM2, MIR199A1	Deletion	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 3248442	NC_000019.9:g.(?_10828919)_(10829099_?)del	DNM2	Deletion	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 3235984	NM_001005361.3(DNM2):c.1573T>G (p.Trp525Gly)	DNM2 (W521G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 3023872	NM_001005361.3(DNM2):c.1093A>G (p.Ile365Val)	DNM2 (I365V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 3021671	NM_001005361.3(DNM2):c.1545+7C>A	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 3021481	NM_001005361.3(DNM2):c.1558-16G>T	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 3019452	NM_001005361.3(DNM2):c.1782-11C>A	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 3016591	NM_001005361.3(DNM2):c.1442T>C (p.Ile481Thr)	DNM2 (I481T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 3014027	NM_001005361.3(DNM2):c.1033G>A (p.Glu345Lys)	DNM2 (E345K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 3013630	NM_001005361.3(DNM2):c.1196+686A>G	DNM2 (K421E)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 3010858	NM_001005361.3(DNM2):c.244G>A (p.Glu82Lys)	DNM2 (E82K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 3008593	NM_001005361.3(DNM2):c.849+9A>G	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 3006659	NM_001005361.3(DNM2):c.2335G>A (p.Gly779Ser)	DNM2 (G775S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 3005593	NM_001005361.3(DNM2):c.658T>G (p.Leu220Val)	DNM2 (L220V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 3004974	NM_001005361.3(DNM2):c.109G>T (p.Val37Leu)	DNM2, LOC130063529 (V37L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 3003816	NM_001005361.3(DNM2):c.789G>C (p.Pro263=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 3002611	NM_001005361.3(DNM2):c.2047A>G (p.Met683Val)	DNM2 (M679V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 3000403	NM_001005361.3(DNM2):c.997G>A (p.Val333Ile)	DNM2 (V333I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2995862	NM_001005361.3(DNM2):c.-23_12del (p.Met1fs)	DNM2, LOC130063529 (M1fs)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2994365	NM_001005361.3(DNM2):c.1992G>C (p.Val664=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2992866	NM_001005361.3(DNM2):c.1555C>T (p.Leu519=)	DNM2	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2983130	NM_001005361.3(DNM2):c.1938C>A (p.Asp646Glu)	DNM2 (D642E +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2981612	NM_001005361.3(DNM2):c.499G>A (p.Glu167Lys)	DNM2 (E167K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2978953	NM_001005361.3(DNM2):c.2174T>C (p.Met725Thr)	DNM2 (M721T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2974709	NM_001005361.3(DNM2):c.1570G>C (p.Gly524Arg)	DNM2 (G520R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2961875	NM_001005361.3(DNM2):c.2060C>T (p.Thr687Met)	DNM2 (T683M +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2920349	NM_001005361.3(DNM2):c.852A>G (p.Gln284=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2915906	NM_001005361.3(DNM2):c.454A>G (p.Ile152Val)	DNM2 (I152V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2915389	NM_001005361.3(DNM2):c.1095C>T (p.Ile365=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2915344	NM_001005361.3(DNM2):c.236-20C>T	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2911884	NM_001005361.3(DNM2):c.368G>A (p.Arg123Gln)	DNM2 (R123Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2911858	NM_001005361.3(DNM2):c.1717C>T (p.Arg573Cys)	DNM2 (R573C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2911455	NM_001005361.3(DNM2):c.1438G>C (p.Asp480His)	DNM2 (D480H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2908600	NM_001005361.3(DNM2):c.1385C>T (p.Thr462Ile)	DNM2 (T462I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2907057	NM_001005361.3(DNM2):c.1196+676C>G	DNM2	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2906990	NM_001005361.3(DNM2):c.744C>T (p.Ile248=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2902745	NM_001005361.3(DNM2):c.1196+723A>G	DNM2 (Q433R)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2899313	NM_001005361.3(DNM2):c.2397G>T (p.Gly799=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2896480	NM_001005361.3(DNM2):c.91C>T (p.Leu31=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2893741	NM_001005361.3(DNM2):c.2585G>C (p.Arg862Pro)	DNM2 (R861P +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2891187	NM_001005361.3(DNM2):c.1388A>G (p.Tyr463Cys)	DNM2 (Y463C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2885183	NM_001005361.3(DNM2):c.175C>T (p.Arg59Cys)	DNM2 (R59C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2884359	NM_001005361.3(DNM2):c.1493A>C (p.Asn498Thr)	DNM2 (N498T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2881837	NM_001005361.3(DNM2):c.1078G>A (p.Ala360Thr)	DNM2 (A360T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2874878	NM_001005361.3(DNM2):c.2259T>C (p.Asp753=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2865603	NM_001005361.3(DNM2):c.96G>T (p.Pro32=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2864767	NM_001005361.3(DNM2):c.1196+646G>A	DNM2	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2863195	NM_001005361.3(DNM2):c.2526T>G (p.Ile842Met)	DNM2 (I842M +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2854710	NM_001005361.3(DNM2):c.1483G>A (p.Gly495Arg)	DNM2 (G495R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2852202	NM_001005361.3(DNM2):c.1455C>T (p.Tyr485=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2850237	NM_001005361.3(DNM2):c.776T>C (p.Phe259Ser)	DNM2 (F259S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2848933	NM_001005361.3(DNM2):c.1723G>A (p.Val575Met)	DNM2 (V571M +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2844487	NM_001005361.3(DNM2):c.1187A>G (p.His396Arg)	DNM2 (H396R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2839268	NM_001005361.3(DNM2):c.486G>A (p.Gln162=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2836739	NM_001005361.3(DNM2):c.2110G>A (p.Asp704Asn)	DNM2 (D700N +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2836719	NM_001005361.3(DNM2):c.1128+12dup	DNM2	Duplication (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GBenign
Select item 2834294	NM_001005361.3(DNM2):c.2291+19C>T	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2832895	NM_001005361.3(DNM2):c.2034C>G (p.Thr678=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2832663	NM_001005361.3(DNM2):c.1493+7A>G	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2830664	NM_001005361.3(DNM2):c.313A>T (p.Thr105Ser)	DNM2 (T105S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2827912	NM_001005361.3(DNM2):c.1196+13A>G	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2821973	NM_001005361.3(DNM2):c.1732G>A (p.Gly578Ser)	DNM2 (G574S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2821462	NM_001005361.3(DNM2):c.1191A>C (p.Gly397=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2819421	NM_001005361.3(DNM2):c.1686G>A (p.Lys562=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2819205	NM_001005361.3(DNM2):c.2513T>G (p.Ile838Ser)	DNM2 (I834S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2817053	NM_001005361.3(DNM2):c.2252C>A (p.Pro751His)	DNM2 (P751H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2814976	NM_001005361.3(DNM2):c.208A>G (p.Ile70Val)	DNM2 (I70V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2810411	NM_001005361.3(DNM2):c.2544-12T>C	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2806344	NM_001005361.3(DNM2):c.1697C>T (p.Pro566Leu)	DNM2 (P562L +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2803893	NM_001005361.3(DNM2):c.2555C>T (p.Pro852Leu)	DNM2 (P852L +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2799503	NM_001005361.3(DNM2):c.2466T>C (p.Ser822=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2797206	NM_001005361.3(DNM2):c.1494-15G>T	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2789540	NM_001005361.3(DNM2):c.1493+18C>T	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2785394	NM_001005361.3(DNM2):c.2357G>T (p.Gly786Val)	DNM2 (G786V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2785073	NM_001005361.3(DNM2):c.114C>A (p.Gly38=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2783330	NM_001005361.3(DNM2):c.993-16T>A	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2782988	NM_001005361.3(DNM2):c.1894-13_1894-12insA	DNM2	Insertion (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2780492	NM_001005361.3(DNM2):c.1196+615G>A	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2775471	NM_001005361.3(DNM2):c.787C>T (p.Pro263Ser)	DNM2 (P263S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2770352	NM_001005361.3(DNM2):c.589+19C>A	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2767557	NM_001005361.3(DNM2):c.235+13G>T	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2760794	NM_001005361.3(DNM2):c.726T>G (p.Ile242Met)	DNM2 (I242M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2758291	NM_001005361.3(DNM2):c.1196+701A>T	DNM2 (K426*)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2757289	NM_001005361.3(DNM2):c.1336-5C>T	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2756566	NM_001005361.3(DNM2):c.105T>A (p.Ala35=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2753457	NM_001005361.3(DNM2):c.732C>G (p.Gly244=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2752399	NM_001005361.3(DNM2):c.1893+10C>A	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2745683	NM_001005361.3(DNM2):c.689-12C>T	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2744321	NM_001005361.3(DNM2):c.1344C>T (p.Ser448=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2741255	NM_001005361.3(DNM2):c.2238G>A (p.Thr746=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2731256	NM_001005361.3(DNM2):c.1696C>A (p.Pro566Thr)	DNM2 (P562T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2730965	NM_001005361.3(DNM2):c.1781+14G>A	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2730313	NM_001005361.3(DNM2):c.246G>A (p.Glu82=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2730016	NM_001005361.3(DNM2):c.1494-20T>C	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2729246	NM_001005361.3(DNM2):c.746G>A (p.Arg249His)	DNM2 (R249H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2728240	NM_001005361.3(DNM2):c.848A>G (p.Gln283Arg)	DNM2 (Q283R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2727732	NM_001005361.3(DNM2):c.1713G>T (p.Lys571Asn)	DNM2 (K571N +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2726510	NM_001005361.3(DNM2):c.2553C>T (p.Pro851=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign

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