ClinVar for MedGen (Select 371512) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3020502	NM_004637.6(RAB7A):c.529-20T>G	LOC112872299, RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 3012538	NM_004637.6(RAB7A):c.570C>G (p.Ile190Met)	LOC112872299, RAB7A (I190M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 3008781	NM_004637.6(RAB7A):c.421G>A (p.Ala141Thr)	RAB7A (A141T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 3006054	NM_004637.6(RAB7A):c.249C>T (p.Cys83=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 2989252	NM_004637.6(RAB7A):c.351C>G (p.Asn117Lys)	RAB7A (N117K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 2957564	NM_004637.6(RAB7A):c.89A>G (p.Asn30Ser)	RAB7A (N30S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 2910345	NM_004637.6(RAB7A):c.53+9C>G	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 2896404	NM_004637.6(RAB7A):c.399+12C>T	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 2893827	NM_004637.6(RAB7A):c.621C>T (p.Cys207=)	LOC112872299, RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 2865155	NM_004637.6(RAB7A):c.400-6T>C	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 2864652	NM_004637.6(RAB7A):c.399+17A>C	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 2851165	NM_004637.6(RAB7A):c.138G>C (p.Leu46=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 2839728	NM_004637.6(RAB7A):c.151A>G (p.Met51Val)	RAB7A (M51V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 2836032	NM_004637.6(RAB7A):c.528+2dup	RAB7A	Duplication (splice donor variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 2834054	NM_004637.6(RAB7A):c.181-9C>T	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 2825934	NM_004637.6(RAB7A):c.311A>G (p.Asp104Gly)	RAB7A (D104G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 2814829	NM_004637.6(RAB7A):c.294C>G (p.Thr98=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 2732945	NM_004637.6(RAB7A):c.399+14A>G	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 2716551	NM_004637.6(RAB7A):c.400-15T>G	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 2699344	NM_004637.6(RAB7A):c.99C>T (p.Phe33=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 2695449	NM_004637.6(RAB7A):c.464G>A (p.Ser155Asn)	RAB7A (S155N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 2444053	NM_004637.6(RAB7A):c.467C>T (p.Ala156Val)	RAB7A (A156V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 2389107	NM_004637.6(RAB7A):c.592G>A (p.Ala198Thr)	LOC112872299, RAB7A (A198T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B +1 more	GConflicting classifications of pathogenicity
Select item 2185840	NM_004637.6(RAB7A):c.53+14G>T	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 2184191	NM_004637.6(RAB7A):c.57C>T (p.Val19=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 2164771	NM_004637.6(RAB7A):c.54-9C>T	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 2142857	NM_004637.6(RAB7A):c.400-16C>G	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 2072850	NM_004637.6(RAB7A):c.400-13CTT[2]	RAB7A	Microsatellite (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 2061281	NM_004637.6(RAB7A):c.400-11T>G	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 2057029	NM_004637.6(RAB7A):c.74T>C (p.Met25Thr)	RAB7A (M25T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 1983634	NM_004637.6(RAB7A):c.544C>A (p.Leu182Met)	LOC112872299, RAB7A (L182M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 1982593	NM_004637.6(RAB7A):c.300T>C (p.Asp100=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1978838	NM_004637.6(RAB7A):c.528+20C>T	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1935778	NM_004637.6(RAB7A):c.366G>T (p.Val122=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1922844	NM_004637.6(RAB7A):c.591G>C (p.Arg197=)	RAB7A, LOC112872299	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1908399	NM_004637.6(RAB7A):c.489G>C (p.Glu163Asp)	RAB7A (E163D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 1707643	NM_004637.6(RAB7A):c.544C>G (p.Leu182Val)	LOC112872299, RAB7A (L182V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 1623841	NM_004637.6(RAB7A):c.54-20T>C	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1623367	NM_004637.6(RAB7A):c.174A>G (p.Thr58=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1596625	NM_004637.6(RAB7A):c.375C>T (p.Asn125=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1595539	NM_004637.6(RAB7A):c.543G>A (p.Glu181=)	LOC112872299, RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1588826	NM_004637.6(RAB7A):c.529-14G>C	LOC112872299, RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1551294	NM_004637.6(RAB7A):c.399+19A>G	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1502827	NM_004637.6(RAB7A):c.572A>G (p.Lys191Arg)	LOC112872299, RAB7A (K191R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 1498322	NM_004637.6(RAB7A):c.434G>A (p.Ser145Asn)	RAB7A (S145N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 1474822	NM_004637.6(RAB7A):c.152T>C (p.Met51Thr)	RAB7A (M51T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 1471329	NM_004637.6(RAB7A):c.592G>T (p.Ala198Ser)	RAB7A, LOC112872299 (A198S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 1447624	NM_004637.6(RAB7A):c.180+4A>T	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 1381919	NM_004637.6(RAB7A):c.605C>G (p.Ala202Gly)	LOC112872299, RAB7A (A202G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 1373051	NM_004637.6(RAB7A):c.508G>A (p.Ala170Thr)	RAB7A (A170T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 1370790	NM_004637.6(RAB7A):c.602C>T (p.Ser201Leu)	LOC112872299, RAB7A (S201L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 1159170	NM_004637.6(RAB7A):c.400-10C>T	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1137471	NM_004637.6(RAB7A):c.529-6G>A	LOC112872299, RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1134426	NM_004637.6(RAB7A):c.534G>A (p.Thr178=)	LOC112872299, RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1130756	NM_004637.6(RAB7A):c.205C>A (p.Arg69=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1126484	NM_004637.6(RAB7A):c.18A>G (p.Lys6=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1125138	NM_004637.6(RAB7A):c.603G>C (p.Ser201=)	LOC112872299, RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1120512	NM_004637.6(RAB7A):c.531A>G (p.Glu177=)	LOC112872299, RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1110069	NM_004637.6(RAB7A):c.53+7T>C	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1101355	NM_004637.6(RAB7A):c.252C>T (p.Cys84=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1091049	NM_004637.6(RAB7A):c.589C>G (p.Arg197Gly)	LOC112872299, RAB7A (R197G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1077438	NM_004637.6(RAB7A):c.504G>A (p.Thr168=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1057779	NM_004637.6(RAB7A):c.467C>G (p.Ala156Gly)	RAB7A (A156G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 1046646	NM_004637.6(RAB7A):c.503C>T (p.Thr168Met)	RAB7A (T168M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1041821	NM_004637.6(RAB7A):c.481A>G (p.Asn161Asp)	RAB7A (N161D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 1039960	NM_004637.6(RAB7A):c.403G>A (p.Ala135Thr)	RAB7A (A135T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 1015296	NM_004637.6(RAB7A):c.533C>T (p.Thr178Met)	LOC112872299, RAB7A (T178M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 963168	NM_004637.6(RAB7A):c.448C>A (p.Pro150Thr)	RAB7A (P150T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 939028	NM_004637.6(RAB7A):c.589C>T (p.Arg197Trp)	LOC112872299, RAB7A (R197W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 933839	NM_004637.6(RAB7A):c.377A>G (p.Lys126Arg)	RAB7A (K126R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 917245	NM_004637.6(RAB7A):c.400-17C>G	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 903546	NM_004637.6(RAB7A):c.*831A>G	RAB7A	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 903545	NM_004637.6(RAB7A):c.*819C>A	RAB7A	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 903544	NM_004637.6(RAB7A):c.*402T>A	RAB7A	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 903543	NM_004637.6(RAB7A):c.*317A>G	RAB7A	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 901660	NM_004637.6(RAB7A):c.*1344G>A	RAB7A	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 901659	NM_004637.6(RAB7A):c.*1343C>T	RAB7A	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 901658	NM_004637.6(RAB7A):c.*1219C>T	RAB7A	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 901604	NM_004637.6(RAB7A):c.*274G>A	RAB7A	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 901603	NM_004637.6(RAB7A):c.*229C>T	RAB7A	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2B	GBenign
Select item 901117	NM_004637.6(RAB7A):c.*1141C>T	RAB7A	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 901116	NM_004637.6(RAB7A):c.*1079C>T	RAB7A	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 901115	NM_004637.6(RAB7A):c.*1026G>A	RAB7A	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 901056	NM_004637.6(RAB7A):c.456T>G (p.Phe152Leu)	RAB7A (F152L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 899946	NM_004637.6(RAB7A):c.*989C>G	RAB7A	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 899945	NM_004637.6(RAB7A):c.*974A>G	RAB7A	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 899944	NM_004637.6(RAB7A):c.*956G>A	RAB7A	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 899943	NM_004637.6(RAB7A):c.*908A>C	RAB7A	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 899942	NM_004637.6(RAB7A):c.*846A>G	RAB7A	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 2B	GBenign
Select item 899875	NM_004637.6(RAB7A):c.54-15T>C	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 899874	NM_004637.6(RAB7A):c.-61G>A	RAB7A	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 899873	NM_004637.6(RAB7A):c.-146G>C	RAB7A	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 846870	NM_004637.6(RAB7A):c.482A>G (p.Asn161Ser)	RAB7A (N161S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 846631	NM_004637.6(RAB7A):c.471G>T (p.Lys157Asn)	RAB7A (K157N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GPathogenic
Select item 841119	NM_004637.6(RAB7A):c.590G>A (p.Arg197Gln)	LOC112872299, RAB7A (R197Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 837693	NM_004637.6(RAB7A):c.181-3C>T	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 834755	NM_004637.6(RAB7A):c.148G>A (p.Val50Met)	RAB7A (V50M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 805267	NM_004637.6(RAB7A):c.466G>A (p.Ala156Thr)	RAB7A (A156T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B +1 more	GConflicting classifications of pathogenicity
Select item 798031	NM_004637.6(RAB7A):c.180+7A>G	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 763663	NM_004637.6(RAB7A):c.181-4A>T	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign

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