ClinVar for MedGen (Select 371512) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24440531.	NM_004637.6(RAB7A):c.467C>T (p.Ala156Val) GRCh37: Chr3:128526453 GRCh38: Chr3:128807610	RAB7A	A156V	Charcot-Marie-Tooth disease type 2B	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 21858402.	NM_004637.6(RAB7A):c.53+14G>T GRCh37: Chr3:128514277 GRCh38: Chr3:128795434	RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Oct 2, 2022)	criteria provided, single submitter
Select item 21841913.	NM_004637.6(RAB7A):c.57C>T (p.Val19=) GRCh37: Chr3:128516789 GRCh38: Chr3:128797946	RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 21647714.	NM_004637.6(RAB7A):c.54-9C>T GRCh37: Chr3:128516777 GRCh38: Chr3:128797934	RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 21428575.	NM_004637.6(RAB7A):c.400-16C>G GRCh37: Chr3:128526370 GRCh38: Chr3:128807527	RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Jun 9, 2022)	criteria provided, single submitter
Select item 20728506.	NM_004637.6(RAB7A):c.400-13CTT[2] GRCh37: Chr3:128526373-128526375 GRCh38: Chr3:128807530-128807532	RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 20612817.	NM_004637.6(RAB7A):c.400-11T>G GRCh37: Chr3:128526375 GRCh38: Chr3:128807532	RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Jul 2, 2022)	criteria provided, single submitter
Select item 20570298.	NM_004637.6(RAB7A):c.74T>C (p.Met25Thr) GRCh37: Chr3:128516806 GRCh38: Chr3:128797963	RAB7A	M25T	Charcot-Marie-Tooth disease type 2B	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 19836349.	NM_004637.6(RAB7A):c.544C>A (p.Leu182Met) GRCh37: Chr3:128532185 GRCh38: Chr3:128813342	RAB7A, LOC112872299	L182M	Charcot-Marie-Tooth disease type 2B	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 198259310.	NM_004637.6(RAB7A):c.300T>C (p.Asp100=) GRCh37: Chr3:128525334 GRCh38: Chr3:128806491	RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 197883811.	NM_004637.6(RAB7A):c.528+20C>T GRCh37: Chr3:128526534 GRCh38: Chr3:128807691	RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 193577812.	NM_004637.6(RAB7A):c.366G>T (p.Val122=) GRCh37: Chr3:128525400 GRCh38: Chr3:128806557	RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 192284413.	NM_004637.6(RAB7A):c.591G>C (p.Arg197=) GRCh37: Chr3:128532232 GRCh38: Chr3:128813389	LOC112872299, RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 190839914.	NM_004637.6(RAB7A):c.489G>C (p.Glu163Asp) GRCh37: Chr3:128526475 GRCh38: Chr3:128807632	RAB7A	E163D	Charcot-Marie-Tooth disease type 2B	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 170764315.	NM_004637.6(RAB7A):c.544C>G (p.Leu182Val) GRCh37: Chr3:128532185 GRCh38: Chr3:128813342	LOC112872299, RAB7A	L182V	Charcot-Marie-Tooth disease type 2B	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 162384116.	NM_004637.6(RAB7A):c.54-20T>C GRCh37: Chr3:128516766 GRCh38: Chr3:128797923	RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 162336717.	NM_004637.6(RAB7A):c.174A>G (p.Thr58=) GRCh37: Chr3:128516906 GRCh38: Chr3:128798063	RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Nov 17, 2020)	criteria provided, single submitter
Select item 159662518.	NM_004637.6(RAB7A):c.375C>T (p.Asn125=) GRCh37: Chr3:128525409 GRCh38: Chr3:128806566	RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Jan 30, 2021)	criteria provided, single submitter
Select item 159553919.	NM_004637.6(RAB7A):c.543G>A (p.Glu181=) GRCh37: Chr3:128532184 GRCh38: Chr3:128813341	LOC112872299, RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Jul 21, 2021)	criteria provided, single submitter
Select item 158882620.	NM_004637.6(RAB7A):c.529-14G>C GRCh37: Chr3:128532156 GRCh38: Chr3:128813313	LOC112872299, RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (May 12, 2021)	criteria provided, single submitter
Select item 155129421.	NM_004637.6(RAB7A):c.399+19A>G GRCh37: Chr3:128525452 GRCh38: Chr3:128806609	RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Apr 16, 2021)	criteria provided, single submitter
Select item 150282722.	NM_004637.6(RAB7A):c.572A>G (p.Lys191Arg) GRCh37: Chr3:128532213 GRCh38: Chr3:128813370	LOC112872299, RAB7A	K191R	Charcot-Marie-Tooth disease type 2B	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 149832223.	NM_004637.6(RAB7A):c.434G>A (p.Ser145Asn) GRCh37: Chr3:128526420 GRCh38: Chr3:128807577	RAB7A	S145N	Charcot-Marie-Tooth disease type 2B	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 147482224.	NM_004637.6(RAB7A):c.152T>C (p.Met51Thr) GRCh37: Chr3:128516884 GRCh38: Chr3:128798041	RAB7A	M51T	Charcot-Marie-Tooth disease type 2B	Uncertain significance (Sep 29, 2021)	criteria provided, single submitter
Select item 147132925.	NM_004637.6(RAB7A):c.592G>T (p.Ala198Ser) GRCh37: Chr3:128532233 GRCh38: Chr3:128813390	LOC112872299, RAB7A	A198S	Charcot-Marie-Tooth disease type 2B	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 144762426.	NM_004637.6(RAB7A):c.180+4A>T GRCh37: Chr3:128516916 GRCh38: Chr3:128798073	RAB7A		Charcot-Marie-Tooth disease type 2B	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 138191927.	NM_004637.6(RAB7A):c.605C>G (p.Ala202Gly) GRCh37: Chr3:128532246 GRCh38: Chr3:128813403	LOC112872299, RAB7A	A202G	Charcot-Marie-Tooth disease type 2B	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 137305128.	NM_004637.6(RAB7A):c.508G>A (p.Ala170Thr) GRCh37: Chr3:128526494 GRCh38: Chr3:128807651	RAB7A	A170T	Charcot-Marie-Tooth disease type 2B	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 137079029.	NM_004637.6(RAB7A):c.602C>T (p.Ser201Leu) GRCh37: Chr3:128532243 GRCh38: Chr3:128813400	LOC112872299, RAB7A	S201L	Charcot-Marie-Tooth disease type 2B	Uncertain significance (Oct 20, 2022)	criteria provided, single submitter
Select item 115917030.	NM_004637.6(RAB7A):c.400-10C>T GRCh37: Chr3:128526376 GRCh38: Chr3:128807533	RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 113747131.	NM_004637.6(RAB7A):c.529-6G>A GRCh37: Chr3:128532164 GRCh38: Chr3:128813321	LOC112872299, RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Sep 25, 2019)	criteria provided, single submitter
Select item 113442632.	NM_004637.6(RAB7A):c.534G>A (p.Thr178=) GRCh37: Chr3:128532175 GRCh38: Chr3:128813332	LOC112872299, RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 113075633.	NM_004637.6(RAB7A):c.205C>A (p.Arg69=) GRCh37: Chr3:128525239 GRCh38: Chr3:128806396	RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 112648434.	NM_004637.6(RAB7A):c.18A>G (p.Lys6=) GRCh37: Chr3:128514228 GRCh38: Chr3:128795385	RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Jul 30, 2020)	criteria provided, single submitter
Select item 112513835.	NM_004637.6(RAB7A):c.603G>C (p.Ser201=) GRCh37: Chr3:128532244 GRCh38: Chr3:128813401	LOC112872299, RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Oct 14, 2020)	criteria provided, single submitter
Select item 112051236.	NM_004637.6(RAB7A):c.531A>G (p.Glu177=) GRCh37: Chr3:128532172 GRCh38: Chr3:128813329	LOC112872299, RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Jan 30, 2020)	criteria provided, single submitter
Select item 111006937.	NM_004637.6(RAB7A):c.53+7T>C GRCh37: Chr3:128514270 GRCh38: Chr3:128795427	RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Aug 8, 2020)	criteria provided, single submitter
Select item 110135538.	NM_004637.6(RAB7A):c.252C>T (p.Cys84=) GRCh37: Chr3:128525286 GRCh38: Chr3:128806443	RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 109104939.	NM_004637.6(RAB7A):c.589C>G (p.Arg197Gly) GRCh37: Chr3:128532230 GRCh38: Chr3:128813387	LOC112872299, RAB7A	R197G	Charcot-Marie-Tooth disease type 2B	Likely benign (Dec 7, 2019)	criteria provided, single submitter
Select item 107743840.	NM_004637.6(RAB7A):c.504G>A (p.Thr168=) GRCh37: Chr3:128526490 GRCh38: Chr3:128807647	RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 105777941.	NM_004637.6(RAB7A):c.467C>G (p.Ala156Gly) GRCh37: Chr3:128526453 GRCh38: Chr3:128807610	RAB7A	A156G	Charcot-Marie-Tooth disease type 2B	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 104664642.	NM_004637.6(RAB7A):c.503C>T (p.Thr168Met) GRCh37: Chr3:128526489 GRCh38: Chr3:128807646	RAB7A	T168M	Charcot-Marie-Tooth disease type 2B	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 104182143.	NM_004637.6(RAB7A):c.481A>G (p.Asn161Asp) GRCh37: Chr3:128526467 GRCh38: Chr3:128807624	RAB7A	N161D	Charcot-Marie-Tooth disease type 2B	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 103996044.	NM_004637.6(RAB7A):c.403G>A (p.Ala135Thr) GRCh37: Chr3:128526389 GRCh38: Chr3:128807546	RAB7A	A135T	Charcot-Marie-Tooth disease type 2B	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 101529645.	NM_004637.6(RAB7A):c.533C>T (p.Thr178Met) GRCh37: Chr3:128532174 GRCh38: Chr3:128813331	LOC112872299, RAB7A	T178M	Charcot-Marie-Tooth disease type 2B	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 96316846.	NM_004637.6(RAB7A):c.448C>A (p.Pro150Thr) GRCh37: Chr3:128526434 GRCh38: Chr3:128807591	RAB7A	P150T	Charcot-Marie-Tooth disease type 2B	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 93902847.	NM_004637.6(RAB7A):c.589C>T (p.Arg197Trp) GRCh37: Chr3:128532230 GRCh38: Chr3:128813387	LOC112872299, RAB7A	R197W	Inborn genetic diseases, Charcot-Marie-Tooth disease type 2B	Uncertain significance (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 93383948.	NM_004637.6(RAB7A):c.377A>G (p.Lys126Arg) GRCh37: Chr3:128525411 GRCh38: Chr3:128806568	RAB7A	K126R	Charcot-Marie-Tooth disease type 2B	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 91724549.	NM_004637.6(RAB7A):c.400-17C>G GRCh37: Chr3:128526369 GRCh38: Chr3:128807526	RAB7A		Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2B	Likely benign (Oct 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90354650.	NM_004637.6(RAB7A):c.*831A>G GRCh37: Chr3:128533096 GRCh38: Chr3:128814253	RAB7A		Charcot-Marie-Tooth disease type 2B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90354551.	NM_004637.6(RAB7A):c.*819C>A GRCh37: Chr3:128533084 GRCh38: Chr3:128814241	RAB7A		Charcot-Marie-Tooth disease type 2B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90354452.	NM_004637.6(RAB7A):c.*402T>A GRCh37: Chr3:128532667 GRCh38: Chr3:128813824	RAB7A		Charcot-Marie-Tooth disease type 2B	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 90354353.	NM_004637.6(RAB7A):c.*317A>G GRCh37: Chr3:128532582 GRCh38: Chr3:128813739	RAB7A		Charcot-Marie-Tooth disease type 2B	Uncertain significance (Apr 20, 2018)	criteria provided, single submitter
Select item 90166054.	NM_004637.6(RAB7A):c.*1344G>A GRCh37: Chr3:128533609 GRCh38: Chr3:128814766	RAB7A		Charcot-Marie-Tooth disease type 2B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90165955.	NM_004637.6(RAB7A):c.*1343C>T GRCh37: Chr3:128533608 GRCh38: Chr3:128814765	RAB7A		Charcot-Marie-Tooth disease type 2B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90165856.	NM_004637.6(RAB7A):c.*1219C>T GRCh37: Chr3:128533484 GRCh38: Chr3:128814641	RAB7A		Charcot-Marie-Tooth disease type 2B	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90160457.	NM_004637.6(RAB7A):c.*274G>A GRCh37: Chr3:128532539 GRCh38: Chr3:128813696	RAB7A		Charcot-Marie-Tooth disease type 2B	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90160358.	NM_004637.6(RAB7A):c.*229C>T GRCh37: Chr3:128532494 GRCh38: Chr3:128813651	RAB7A		Charcot-Marie-Tooth disease type 2B	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90111759.	NM_004637.6(RAB7A):c.*1141C>T GRCh37: Chr3:128533406 GRCh38: Chr3:128814563	RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90111660.	NM_004637.6(RAB7A):c.*1079C>T GRCh37: Chr3:128533344 GRCh38: Chr3:128814501	RAB7A		Charcot-Marie-Tooth disease type 2B	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90111561.	NM_004637.6(RAB7A):c.*1026G>A GRCh37: Chr3:128533291 GRCh38: Chr3:128814448	RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90105662.	NM_004637.6(RAB7A):c.456T>G (p.Phe152Leu) GRCh37: Chr3:128526442 GRCh38: Chr3:128807599	RAB7A	F152L	Charcot-Marie-Tooth disease type 2B	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89994663.	NM_004637.6(RAB7A):c.*989C>G GRCh37: Chr3:128533254 GRCh38: Chr3:128814411	RAB7A		Charcot-Marie-Tooth disease type 2B	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89994564.	NM_004637.6(RAB7A):c.*974A>G GRCh37: Chr3:128533239 GRCh38: Chr3:128814396	RAB7A		Charcot-Marie-Tooth disease type 2B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89994465.	NM_004637.6(RAB7A):c.*956G>A GRCh37: Chr3:128533221 GRCh38: Chr3:128814378	RAB7A		Charcot-Marie-Tooth disease type 2B	Uncertain significance (Mar 23, 2018)	criteria provided, single submitter
Select item 89994366.	NM_004637.6(RAB7A):c.*908A>C GRCh37: Chr3:128533173 GRCh38: Chr3:128814330	RAB7A		Charcot-Marie-Tooth disease type 2B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89994267.	NM_004637.6(RAB7A):c.*846A>G GRCh37: Chr3:128533111 GRCh38: Chr3:128814268	RAB7A		Charcot-Marie-Tooth disease type 2B	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89987568.	NM_004637.6(RAB7A):c.54-15T>C GRCh37: Chr3:128516771 GRCh38: Chr3:128797928	RAB7A		Charcot-Marie-Tooth disease type 2B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89987469.	NM_004637.6(RAB7A):c.-61G>A GRCh37: Chr3:128445150 GRCh38: Chr3:128726307	RAB7A		Charcot-Marie-Tooth disease type 2B	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89987370.	NM_004637.6(RAB7A):c.-146G>C GRCh37: Chr3:128445065 GRCh38: Chr3:128726222	RAB7A		Charcot-Marie-Tooth disease type 2B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 84687071.	NM_004637.6(RAB7A):c.482A>G (p.Asn161Ser) GRCh37: Chr3:128526468 GRCh38: Chr3:128807625	RAB7A	N161S	Charcot-Marie-Tooth disease type 2B	Uncertain significance (Jul 8, 2022)	criteria provided, single submitter
Select item 84663172.	NM_004637.6(RAB7A):c.471G>T (p.Lys157Asn) GRCh37: Chr3:128526457 GRCh38: Chr3:128807614	RAB7A	K157N	Charcot-Marie-Tooth disease type 2B	Pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 84111973.	NM_004637.6(RAB7A):c.590G>A (p.Arg197Gln) GRCh37: Chr3:128532231 GRCh38: Chr3:128813388	LOC112872299, RAB7A	R197Q	Charcot-Marie-Tooth disease type 2B	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 83769374.	NM_004637.6(RAB7A):c.181-3C>T GRCh37: Chr3:128525212 GRCh38: Chr3:128806369	RAB7A		Charcot-Marie-Tooth disease type 2B	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 83475575.	NM_004637.6(RAB7A):c.148G>A (p.Val50Met) GRCh37: Chr3:128516880 GRCh38: Chr3:128798037	RAB7A	V50M	Charcot-Marie-Tooth disease type 2B	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 80526776.	NM_004637.6(RAB7A):c.466G>A (p.Ala156Thr) GRCh37: Chr3:128526452 GRCh38: Chr3:128807609	RAB7A	A156T	not provided, Charcot-Marie-Tooth disease type 2B	Conflicting interpretations of pathogenicity (Dec 14, 2021)	criteria provided, conflicting interpretations
Select item 79803177.	NM_004637.6(RAB7A):c.180+7A>G GRCh37: Chr3:128516919 GRCh38: Chr3:128798076	RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Dec 31, 2019)	criteria provided, single submitter
Select item 76366378.	NM_004637.6(RAB7A):c.181-4A>T GRCh37: Chr3:128525211 GRCh38: Chr3:128806368	RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Jul 26, 2018)	criteria provided, single submitter
Select item 70544379.	NM_004637.6(RAB7A):c.357A>G (p.Pro119=) GRCh37: Chr3:128525391 GRCh38: Chr3:128806548	RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Jul 2, 2018)	criteria provided, single submitter
Select item 70506780.	NM_004637.6(RAB7A):c.528+9C>T GRCh37: Chr3:128526523 GRCh38: Chr3:128807680	RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (May 6, 2018)	criteria provided, single submitter
Select item 70434981.	NM_004637.6(RAB7A):c.603G>A (p.Ser201=) GRCh37: Chr3:128532244 GRCh38: Chr3:128813401	LOC112872299, RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 70167882.	NM_004637.6(RAB7A):c.6C>G (p.Thr2=) GRCh37: Chr3:128514216 GRCh38: Chr3:128795373	RAB7A		Charcot-Marie-Tooth disease type 2B	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 66505683.	NC_000003.11:g.(?_128514201)_(128631967_?)dup GRCh37: Chr3:128514201-128631967 GRCh38: Chr3:128795358-128913124	ACAD9-DT, CFAP92, LOC112872299, LOC126806807, LOC129389132, LOC129937528, LOC129937529, MIR12124, RAB7A, ACAD9		Charcot-Marie-Tooth disease type 2B	Uncertain significance (Oct 25, 2018)	criteria provided, single submitter
Select item 63740484.	NM_004637.6(RAB7A):c.482A>T (p.Asn161Ile) GRCh37: Chr3:128526468 GRCh38: Chr3:128807625	RAB7A	N161I	Charcot-Marie-Tooth disease type 2B	Pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 57406785.	NM_004637.6(RAB7A):c.568A>G (p.Ile190Val) GRCh37: Chr3:128532209 GRCh38: Chr3:128813366	LOC112872299, RAB7A	I190V	Inborn genetic diseases, Charcot-Marie-Tooth disease type 2B	Conflicting interpretations of pathogenicity (Oct 18, 2022)	criteria provided, conflicting interpretations
Select item 53274386.	NM_004637.6(RAB7A):c.321C>T (p.Leu107=) GRCh37: Chr3:128525355 GRCh38: Chr3:128806512	RAB7A		Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2B, Inborn genetic diseases	Likely benign (Jan 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 53274287.	NM_004637.6(RAB7A):c.414G>T (p.Arg138=) GRCh37: Chr3:128526400 GRCh38: Chr3:128807557	RAB7A		Charcot-Marie-Tooth disease type 2B, Inborn genetic diseases	Likely benign (Aug 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 53274188.	NM_004637.6(RAB7A):c.551A>G (p.Asn184Ser) GRCh37: Chr3:128532192 GRCh38: Chr3:128813349	LOC112872299, RAB7A	N184S	not provided, Charcot-Marie-Tooth disease type 2B	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 46409589.	NM_004637.6(RAB7A):c.577G>A (p.Asp193Asn) GRCh37: Chr3:128532218 GRCh38: Chr3:128813375	LOC112872299, RAB7A	D193N	Charcot-Marie-Tooth disease type 2B	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 46409490.	NM_004637.6(RAB7A):c.21G>A (p.Val7=) GRCh37: Chr3:128514231 GRCh38: Chr3:128795388	RAB7A		Inborn genetic diseases, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2B, not provided	Likely benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 46409391.	NM_004637.6(RAB7A):c.180+9A>G GRCh37: Chr3:128516921 GRCh38: Chr3:128798078	RAB7A		Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2B, not specified, not provided	Likely benign (Feb 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45081392.	NM_004637.6(RAB7A):c.506T>C (p.Ile169Thr) GRCh37: Chr3:128526492 GRCh38: Chr3:128807649	RAB7A	I169T	Charcot-Marie-Tooth disease type 2B, not provided	Uncertain significance (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38822693.	NM_004637.6(RAB7A):c.54-17T>C GRCh37: Chr3:128516769 GRCh38: Chr3:128797926	RAB7A		Charcot-Marie-Tooth disease type 2B, not specified	Likely benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 38719994.	NM_004637.6(RAB7A):c.213G>A (p.Gln71=) GRCh37: Chr3:128525247 GRCh38: Chr3:128806404	RAB7A		Charcot-Marie-Tooth disease type 2B, Inborn genetic diseases, not provided	Benign/Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38212795.	NM_004637.6(RAB7A):c.183A>C (p.Ile61=) GRCh37: Chr3:128525217 GRCh38: Chr3:128806374	RAB7A		Inborn genetic diseases, Charcot-Marie-Tooth disease, not specified, Charcot-Marie-Tooth disease type 2B	Likely benign (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34318596.	NM_004637.6(RAB7A):c.*1374G>A GRCh37: Chr3:128533639 GRCh38: Chr3:128814796	RAB7A		Charcot-Marie-Tooth disease type 2B	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34318497.	NM_004637.6(RAB7A):c.*1301A>G GRCh37: Chr3:128533566 GRCh38: Chr3:128814723	RAB7A		Charcot-Marie-Tooth disease type 2B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34318398.	NM_004637.6(RAB7A):c.*1161C>T GRCh37: Chr3:128533426 GRCh38: Chr3:128814583	RAB7A		Charcot-Marie-Tooth disease type 2B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34318299.	NM_004637.6(RAB7A):c.*1142G>A GRCh37: Chr3:128533407 GRCh38: Chr3:128814564	RAB7A		Charcot-Marie-Tooth disease type 2B	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 343181100.	NM_004637.6(RAB7A):c.*1029A>G GRCh37: Chr3:128533294 GRCh38: Chr3:128814451	RAB7A		Charcot-Marie-Tooth disease type 2B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter

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