ClinVar for MedGen (Select 334012) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627522	NM_018972.4(GDAP1):c.827T>G (p.Leu276Trp)	GDAP1 (L167W +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate A	GUncertain significance
Select item 2444286	NM_018972.4(GDAP1):c.760dup (p.Thr254fs)	GDAP1 (T145fs +3 more)	Duplication (frameshift variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate A	GLikely pathogenic
Select item 912243	NM_018972.2(GDAP1):c.*2542A>G	GDAP1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 912173	NM_018972.4(GDAP1):c.*1819T>C	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +2 more	GLikely benign
Select item 912109	NM_018972.4(GDAP1):c.*1289T>C	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 912108	NM_018972.4(GDAP1):c.*1183G>A	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 912056	NM_018972.4(GDAP1):c.*860T>C	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 911999	NM_018972.4(GDAP1):c.*331C>T	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 911998	NM_018972.4(GDAP1):c.*195T>C	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 911944	NM_018972.4(GDAP1):c.296A>T (p.Gln99Leu)	GDAP1 (Q31L +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 911012	NM_018972.4(GDAP1):c.*2298A>C	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 911011	NM_018972.4(GDAP1):c.*2244T>C	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GBenign
Select item 910949	NM_018972.4(GDAP1):c.*1639A>T	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GLikely benign
Select item 910883	NM_018972.4(GDAP1):c.*1165C>G	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 910882	NM_018972.4(GDAP1):c.*1141C>T	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 910780	NM_018972.4(GDAP1):c.*61C>T	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +2 more	GBenign/Likely benign
Select item 910779	NM_018972.4(GDAP1):c.*18C>T	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 910123	NM_018972.4(GDAP1):c.*2125A>C	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 909995	NM_018972.4(GDAP1):c.*1080G>A	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 909994	NM_018972.4(GDAP1):c.*1043G>C	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 909993	NM_018972.4(GDAP1):c.*1006C>T	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GLikely benign
Select item 909933	NM_018972.4(GDAP1):c.*723G>A	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GLikely benign
Select item 909932	NM_018972.4(GDAP1):c.*697A>G	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 909881	NM_018972.4(GDAP1):c.719G>C (p.Cys240Ser)	GDAP1 (C131S +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate A +2 more	GUncertain significance
Select item 909153	NM_018972.4(GDAP1):c.*926C>A	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 909152	NM_018972.4(GDAP1):c.*920C>G	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GBenign
Select item 909078	NM_018972.4(GDAP1):c.*644G>T	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 909077	NM_018972.4(GDAP1):c.*451C>T	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 909017	NM_018972.4(GDAP1):c.471T>G (p.Thr157=)	GDAP1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate A +2 more	GConflicting classifications of pathogenicity
Select item 908239	NM_018972.2(GDAP1):c.*2702T>C	GDAP1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 908238	NM_018972.2(GDAP1):c.*2675C>T	GDAP1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 908167	NM_018972.4(GDAP1):c.*1968C>T	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 908166	NM_018972.4(GDAP1):c.*1905A>G	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 908105	NM_018972.4(GDAP1):c.*1415C>T	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 908104	NM_018972.4(GDAP1):c.*1372A>G	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 908103	NM_018972.4(GDAP1):c.*1301A>G	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 848093	NM_018972.4(GDAP1):c.872A>G (p.Lys291Arg)	GDAP1 (K182R +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate A +2 more	GUncertain significance
Select item 845803	NM_018972.4(GDAP1):c.1039A>G (p.Met347Val)	GDAP1 (M238V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 804866	NM_018972.4(GDAP1):c.931G>A (p.Val311Met)	GDAP1 (V243M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 670531	NM_018972.4(GDAP1):c.694+24C>T	GDAP1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2K +4 more	GBenign
Select item 670530	NM_018972.4(GDAP1):c.117+28G>A	GDAP1, LOC130000622	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2K +5 more	GBenign
Select item 655978	NM_018972.4(GDAP1):c.721G>A (p.Gly241Ser)	GDAP1 (G241S +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A +4 more	GUncertain significance
Select item 637122	NM_018972.4(GDAP1):c.349dup (p.Tyr117fs)	GDAP1 (Y117fs +2 more)	Duplication (frameshift variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate A	GPathogenic
Select item 637109	NM_018972.4(GDAP1):c.439del (p.Thr147fs)	GDAP1 (T38fs +2 more)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 618662	NM_018972.4(GDAP1):c.767A>G (p.His256Arg)	GDAP1 (H256R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic
Select item 549689	NM_001362931.2(GDAP1):c.694+932_694+1314del	GDAP1	Deletion (intron variant)	Charcot-Marie-Tooth disease recessive intermediate A	GPathogenic
Select item 467776	NM_018972.4(GDAP1):c.965C>T (p.Thr322Met)	GDAP1 (T322M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 467772	NM_018972.4(GDAP1):c.776A>G (p.Lys259Arg)	GDAP1 (K259R +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate A +2 more	GUncertain significance
Select item 467754	NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser)	GDAP1 (A336S +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A +4 more	GUncertain significance
Select item 424778	NM_018972.2(GDAP1):c.[347T>C];[62delA]			Charcot-Marie-Tooth disease recessive intermediate A +3 more	GPathogenic
Select item 406136	NM_018972.4(GDAP1):c.786del (p.Phe263fs)	GDAP1 (F195fs +3 more)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease type 4A +2 more	GPathogenic/Likely pathogenic
Select item 406135	NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu)	GDAP1 (P153L +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A +4 more	GPathogenic/Likely pathogenic
Select item 379724	NM_018972.4(GDAP1):c.693A>T (p.Pro231=)	GDAP1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +4 more	GConflicting classifications of pathogenicity
Select item 363763	NM_018972.2(GDAP1):c.*2723T>C	GDAP1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 363761	NM_018972.4(GDAP1):c.*2463A>G	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate A +1 more	GBenign
Select item 363760	NM_018972.4(GDAP1):c.*2408G>A	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GLikely benign
Select item 363759	NM_018972.4(GDAP1):c.*2298A>G	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate A +1 more	GUncertain significance
Select item 363758	NM_018972.4(GDAP1):c.*2214A>G	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate A +1 more	GBenign
Select item 363757	NM_018972.4(GDAP1):c.*2210C>T	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 363756	NM_018972.4(GDAP1):c.*2170A>G	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate A +1 more	GUncertain significance
Select item 363755	NM_018972.4(GDAP1):c.*1976C>T	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 363754	NM_018972.4(GDAP1):c.*1923C>T	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate A +1 more	GUncertain significance
Select item 363753	NM_018972.4(GDAP1):c.*1878G>T	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GBenign
Select item 363752	NM_018972.4(GDAP1):c.*1855A>G	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +2 more	GBenign
Select item 363751	NM_018972.4(GDAP1):c.*1779G>T	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate A +1 more	GUncertain significance
Select item 363750	NM_018972.4(GDAP1):c.*1701T>C	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate A +1 more	GLikely benign
Select item 363749	NM_018972.4(GDAP1):c.*1647C>T	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +2 more	GBenign
Select item 363748	NM_018972.4(GDAP1):c.*1639A>G	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 363747	NM_018972.4(GDAP1):c.*1570G>C	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate A +1 more	GUncertain significance
Select item 363746	NM_018972.4(GDAP1):c.*1527G>A	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate A +1 more	GUncertain significance
Select item 363744	NM_018972.4(GDAP1):c.*1437A>C	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 363743	NM_018972.4(GDAP1):c.*1430T>A	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 363742	NM_018972.4(GDAP1):c.*1429A>G	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate A +1 more	GBenign
Select item 363741	NM_018972.4(GDAP1):c.*1416G>A	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate A +1 more	GUncertain significance
Select item 363740	NM_018972.4(GDAP1):c.*1377C>T	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate A +1 more	GUncertain significance
Select item 363739	NM_018972.4(GDAP1):c.*1173G>T	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate A +1 more	GBenign
Select item 363738	NM_018972.4(GDAP1):c.*1162T>C	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate A +1 more	GLikely benign
Select item 363737	NM_018972.4(GDAP1):c.*1124G>T	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate A +1 more	GUncertain significance
Select item 363736	NM_018972.4(GDAP1):c.*1030T>C	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate A +1 more	GUncertain significance
Select item 363735	NM_018972.4(GDAP1):c.*961G>C	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate A +1 more	GUncertain significance
Select item 363733	NM_018972.4(GDAP1):c.*931A>G	GDAP1	Single nucleotide variant (intron variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate A +1 more	GUncertain significance
Select item 363732	NM_018972.4(GDAP1):c.*898A>G	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 363731	NM_018972.4(GDAP1):c.*873T>C	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 363730	NM_018972.4(GDAP1):c.*864G>C	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 363729	NM_018972.4(GDAP1):c.*858G>T	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 363728	NM_018972.4(GDAP1):c.*830C>G	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease recessive intermediate A +1 more	GBenign
Select item 363727	NM_018972.4(GDAP1):c.*797A>G	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GBenign
Select item 363726	NM_018972.4(GDAP1):c.*751A>G	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 363725	NM_018972.4(GDAP1):c.*663T>C	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 363724	NM_018972.4(GDAP1):c.*618C>T	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 363723	NM_018972.4(GDAP1):c.*561C>G	GDAP1	Single nucleotide variant (intron variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GBenign
Select item 363722	NM_018972.4(GDAP1):c.*444A>G	GDAP1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GUncertain significance
Select item 363721	NM_018972.4(GDAP1):c.*357A>G	GDAP1	Single nucleotide variant (intron variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +1 more	GBenign
Select item 363720	NM_018972.4(GDAP1):c.485-6T>C	GDAP1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 363719	NM_018972.4(GDAP1):c.374G>A (p.Arg125Gln)	GDAP1 (R125Q +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +2 more	GUncertain significance
Select item 261065	NM_018972.4(GDAP1):c.507T>G (p.Ser169=)	GDAP1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4A +6 more	GBenign
Select item 245608	NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter)	GDAP1 (R257* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 220379	NM_018972.4(GDAP1):c.579+1G>A	GDAP1	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease +2 more	GPathogenic
Select item 217229	NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter)	GDAP1 (R125* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +4 more	GPathogenic
Select item 216707	NM_018972.4(GDAP1):c.556A>G (p.Ile186Val)	GDAP1 (I186V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance

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