ClinVar for MedGen (Select 347821) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24239241.	NM_018972.4(GDAP1):c.1A>G (p.Met1Val) GRCh37: Chr8:75262697 GRCh38: Chr8:74350462	GDAP1	M1V	Charcot-Marie-Tooth disease type 4A	Pathogenic (Jul 22, 2022)	criteria provided, single submitter
Select item 21999232.	NM_018972.4(GDAP1):c.387C>T (p.Asp129=) GRCh37: Chr8:75272448 GRCh38: Chr8:74360213	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 21765263.	NM_018972.4(GDAP1):c.714G>A (p.Trp238Ter) GRCh37: Chr8:75276239 GRCh38: Chr8:74364004	GDAP1	W180, W238, W170, W129	Charcot-Marie-Tooth disease type 4A	Pathogenic (Aug 23, 2022)	criteria provided, single submitter
Select item 21736004.	NM_018972.4(GDAP1):c.695-20A>G GRCh37: Chr8:75276200 GRCh38: Chr8:74363965	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 21721815.	NM_018972.4(GDAP1):c.966G>C (p.Thr322=) GRCh37: Chr8:75276491 GRCh38: Chr8:74364256	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 21614436.	NM_018972.4(GDAP1):c.77T>C (p.Leu26Pro) GRCh37: Chr8:75262773 GRCh38: Chr8:74350538	GDAP1	L26P	Charcot-Marie-Tooth disease type 4A	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 21596697.	NM_018972.4(GDAP1):c.951A>C (p.Pro317=) GRCh37: Chr8:75276476 GRCh38: Chr8:74364241	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 21570148.	NM_018972.4(GDAP1):c.695-19T>C GRCh37: Chr8:75276201 GRCh38: Chr8:74363966	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 21490019.	NM_018972.4(GDAP1):c.117+19G>A GRCh37: Chr8:75262832 GRCh38: Chr8:74350597	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (May 10, 2022)	criteria provided, single submitter
Select item 214604810.	NM_018972.4(GDAP1):c.913C>T (p.Leu305=) GRCh37: Chr8:75276438 GRCh38: Chr8:74364203	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Mar 28, 2022)	criteria provided, single submitter
Select item 212754511.	NM_018972.4(GDAP1):c.975G>A (p.Val325=) GRCh37: Chr8:75276500 GRCh38: Chr8:74364265	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 211208112.	NM_018972.4(GDAP1):c.96G>T (p.Thr32=) GRCh37: Chr8:75262792 GRCh38: Chr8:74350557	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 210998213.	NM_018972.4(GDAP1):c.484+6_484+19dup GRCh37: Chr8:75272549-75272550 GRCh38: Chr8:74360314-74360315	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 210124814.	NM_018972.4(GDAP1):c.118-9C>A GRCh37: Chr8:75263500 GRCh38: Chr8:74351265	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Oct 28, 2022)	criteria provided, single submitter
Select item 209918815.	NM_018972.4(GDAP1):c.549del (p.Ala184fs) GRCh37: Chr8:75274182 GRCh38: Chr8:74361947	GDAP1	A116fs, A126fs, A75fs, A184fs	Charcot-Marie-Tooth disease type 4A	Pathogenic (Feb 19, 2022)	criteria provided, single submitter
Select item 208924616.	NM_018972.4(GDAP1):c.367del (p.His123fs) GRCh37: Chr8:75272428 GRCh38: Chr8:74360193	GDAP1	H14fs, H55fs, H123fs	Charcot-Marie-Tooth disease type 4A	Pathogenic (Jan 23, 2022)	criteria provided, single submitter
Select item 207736617.	NM_018972.4(GDAP1):c.238C>T (p.Leu80Phe) GRCh37: Chr8:75263629 GRCh38: Chr8:74351394	GDAP1	L12F, L80F	Charcot-Marie-Tooth disease type 4A	Uncertain significance (Sep 11, 2022)	criteria provided, single submitter
Select item 207673018.	NM_018972.4(GDAP1):c.257T>A (p.Ile86Lys) GRCh37: Chr8:75263648 GRCh38: Chr8:74351413	GDAP1	I86K, I18K	Inborn genetic diseases, Charcot-Marie-Tooth disease type 4A	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 205459419.	NM_018972.4(GDAP1):c.484+19G>A GRCh37: Chr8:75272564 GRCh38: Chr8:74360329	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 205273520.	NM_018972.4(GDAP1):c.456C>G (p.Ile152Met) GRCh37: Chr8:75272517 GRCh38: Chr8:74360282	GDAP1	I84M, I43M, I152M	Charcot-Marie-Tooth disease type 4A	Uncertain significance (Dec 22, 2021)	criteria provided, single submitter
Select item 204777821.	NM_018972.4(GDAP1):c.921A>G (p.Thr307=) GRCh37: Chr8:75276446 GRCh38: Chr8:74364211	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Mar 25, 2022)	criteria provided, single submitter
Select item 203860222.	NM_018972.4(GDAP1):c.456C>T (p.Ile152=) GRCh37: Chr8:75272517 GRCh38: Chr8:74360282	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 202896923.	NM_018972.4(GDAP1):c.934del (p.Ala312fs) GRCh37: Chr8:75276458 GRCh38: Chr8:74364223	GDAP1	A244fs, A254fs, A203fs, A312fs	Charcot-Marie-Tooth disease type 4A	Pathogenic (Sep 4, 2022)	criteria provided, single submitter
Select item 202018724.	NM_018972.4(GDAP1):c.694+8C>A GRCh37: Chr8:75275296 GRCh38: Chr8:74363061	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 202015825.	NM_018972.4(GDAP1):c.117+3A>G GRCh37: Chr8:75262816 GRCh38: Chr8:74350581	GDAP1		Charcot-Marie-Tooth disease type 4A	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 201708726.	NM_018972.4(GDAP1):c.118-8T>G GRCh37: Chr8:75263501 GRCh38: Chr8:74351266	GDAP1		Charcot-Marie-Tooth disease type 4A	Uncertain significance (Jul 24, 2022)	criteria provided, single submitter
Select item 201649527.	NM_018972.4(GDAP1):c.484+3A>G GRCh37: Chr8:75272548 GRCh38: Chr8:74360313	GDAP1		Charcot-Marie-Tooth disease type 4A	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 200474828.	NM_018972.4(GDAP1):c.857G>C (p.Arg286Thr) GRCh37: Chr8:75276382 GRCh38: Chr8:74364147	GDAP1	R228T, R218T, R177T, R286T	Charcot-Marie-Tooth disease type 4A	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 200134329.	NM_018972.4(GDAP1):c.178T>G (p.Leu60Val) GRCh37: Chr8:75263569 GRCh38: Chr8:74351334	GDAP1	L60V	Charcot-Marie-Tooth disease type 4A	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 200057730.	NM_018972.4(GDAP1):c.1del (p.Met1fs) GRCh37: Chr8:75262697 GRCh38: Chr8:74350462	GDAP1	M1fs	Charcot-Marie-Tooth disease type 4A	Pathogenic (Jul 29, 2022)	criteria provided, single submitter
Select item 200033331.	NM_018972.4(GDAP1):c.485-2del GRCh37: Chr8:75274117 GRCh38: Chr8:74361882	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely pathogenic (May 29, 2022)	criteria provided, single submitter
Select item 197117632.	NM_018972.4(GDAP1):c.244C>A (p.His82Asn) GRCh37: Chr8:75263635 GRCh38: Chr8:74351400	GDAP1	H82N, H14N	Charcot-Marie-Tooth disease type 4A	Uncertain significance (Oct 20, 2022)	criteria provided, single submitter
Select item 196642833.	NM_018972.4(GDAP1):c.118-15T>C GRCh37: Chr8:75263494 GRCh38: Chr8:74351259	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 196386834.	NM_018972.4(GDAP1):c.446A>C (p.Asp149Ala) GRCh37: Chr8:75272507 GRCh38: Chr8:74360272	GDAP1	D149A, D81A, D40A	Charcot-Marie-Tooth disease type 4A	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 194582035.	NM_018972.4(GDAP1):c.1048G>A (p.Ala350Thr) GRCh37: Chr8:75276573 GRCh38: Chr8:74364338	GDAP1	A241T, A282T, A292T, A350T	Charcot-Marie-Tooth disease type 4A	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 193840936.	NM_018972.4(GDAP1):c.580-15T>C GRCh37: Chr8:75275159 GRCh38: Chr8:74362924	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 192453437.	NM_018972.4(GDAP1):c.391T>C (p.Leu131=) GRCh37: Chr8:75272452 GRCh38: Chr8:74360217	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 190474638.	NM_018972.4(GDAP1):c.311-11G>A GRCh37: Chr8:75272361 GRCh38: Chr8:74360126	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 190375039.	NM_018972.4(GDAP1):c.921A>C (p.Thr307=) GRCh37: Chr8:75276446 GRCh38: Chr8:74364211	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 190196940.	NM_018972.4(GDAP1):c.200G>T (p.Trp67Leu) GRCh37: Chr8:75263591 GRCh38: Chr8:74351356	GDAP1	W67L	Charcot-Marie-Tooth disease type 4A	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 189615141.	NM_018972.4(GDAP1):c.506C>T (p.Ser169Phe) GRCh37: Chr8:75274140 GRCh38: Chr8:74361905	GDAP1	S101F, S60F, S111F, S169F	Charcot-Marie-Tooth disease type 4A	Uncertain significance (Aug 18, 2022)	criteria provided, single submitter
Select item 173367842.	NM_018972.4(GDAP1):c.363ACA[1] (p.Gln122del) GRCh37: Chr8:75272424-75272426 GRCh38: Chr8:74360189-74360191	GDAP1	Q122del, Q54del, Q13del	Charcot-Marie-Tooth disease type 4A, Inborn genetic diseases	Uncertain significance (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172215643.	NM_018972.4(GDAP1):c.643G>T (p.Val215Phe) GRCh37: Chr8:75275237 GRCh38: Chr8:74363002	GDAP1	V106F, V147F, V157F, V215F	Charcot-Marie-Tooth disease type 4A	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 172154844.	NM_018972.4(GDAP1):c.793A>G (p.Arg265Gly) GRCh37: Chr8:75276318 GRCh38: Chr8:74364083	GDAP1	R156G, R197G, R207G, R265G	Charcot-Marie-Tooth disease type 4A	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 171806245.	NM_018972.4(GDAP1):c.404C>G (p.Ala135Gly) GRCh37: Chr8:75272465 GRCh38: Chr8:74360230	GDAP1	A135G, A26G, A67G	Charcot-Marie-Tooth disease type 4A	Uncertain significance (Aug 27, 2022)	criteria provided, single submitter
Select item 171739646.	NM_018972.4(GDAP1):c.373C>G (p.Arg125Gly) GRCh37: Chr8:75272434 GRCh38: Chr8:74360199	GDAP1	R125G, R16G, R57G	Charcot-Marie-Tooth disease type 4A	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 171496047.	NM_018972.4(GDAP1):c.250G>C (p.Glu84Gln) GRCh37: Chr8:75263641 GRCh38: Chr8:74351406	GDAP1	E16Q, E84Q	Charcot-Marie-Tooth disease type 4A	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 167625848.	NM_018972.4(GDAP1):c.653A>C (p.Gln218Pro) GRCh37: Chr8:75275247 GRCh38: Chr8:74363012	GDAP1	Q109P, Q150P, Q160P, Q218P	Charcot-Marie-Tooth disease type 4A	Uncertain significance (Jul 2, 2021)	criteria provided, single submitter
Select item 166104849.	NM_018972.4(GDAP1):c.834C>G (p.Thr278=) GRCh37: Chr8:75276359 GRCh38: Chr8:74364124	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Dec 12, 2020)	criteria provided, single submitter
Select item 162536350.	NM_018972.4(GDAP1):c.72T>G (p.Val24=) GRCh37: Chr8:75262768 GRCh38: Chr8:74350533	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Mar 10, 2021)	criteria provided, single submitter
Select item 162310251.	NM_018972.4(GDAP1):c.763T>C (p.Leu255=) GRCh37: Chr8:75276288 GRCh38: Chr8:74364053	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 160885652.	NM_018972.4(GDAP1):c.571C>A (p.Arg191=) GRCh37: Chr8:75274205 GRCh38: Chr8:74361970	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Oct 7, 2021)	criteria provided, single submitter
Select item 160809253.	NM_018972.4(GDAP1):c.408T>C (p.Tyr136=) GRCh37: Chr8:75272469 GRCh38: Chr8:74360234	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Jan 14, 2021)	criteria provided, single submitter
Select item 159665454.	NM_018972.4(GDAP1):c.942A>G (p.Lys314=) GRCh37: Chr8:75276467 GRCh38: Chr8:74364232	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 158958355.	NM_018972.4(GDAP1):c.633G>A (p.Glu211=) GRCh37: Chr8:75275227 GRCh38: Chr8:74362992	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Nov 4, 2021)	criteria provided, single submitter
Select item 156770956.	NM_018972.4(GDAP1):c.531A>G (p.Glu177=) GRCh37: Chr8:75274165 GRCh38: Chr8:74361930	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Nov 1, 2021)	criteria provided, single submitter
Select item 152329857.	NM_018972.4(GDAP1):c.457C>T (p.Pro153Ser) GRCh37: Chr8:75272518 GRCh38: Chr8:74360283	GDAP1	P153S, P44S, P85S	Charcot-Marie-Tooth disease type 4A	Likely pathogenic (Oct 14, 2021)	criteria provided, single submitter
Select item 152037358.	NM_018972.4(GDAP1):c.484+6T>C GRCh37: Chr8:75272551 GRCh38: Chr8:74360316	GDAP1		Charcot-Marie-Tooth disease type 4A	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 151888959.	NM_018972.4(GDAP1):c.61G>A (p.Asp21Asn) GRCh37: Chr8:75262757 GRCh38: Chr8:74350522	GDAP1	D21N	Inborn genetic diseases, Charcot-Marie-Tooth disease type 4A	Uncertain significance (Jun 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 151637460.	NM_018972.4(GDAP1):c.1042A>G (p.Ile348Val) GRCh37: Chr8:75276567 GRCh38: Chr8:74364332	GDAP1	I239V, I290V, I348V, I280V	Charcot-Marie-Tooth disease type 4A	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 150726461.	NM_018972.4(GDAP1):c.445G>C (p.Asp149His) GRCh37: Chr8:75272506 GRCh38: Chr8:74360271	GDAP1	D40H, D81H, D149H	not provided, Charcot-Marie-Tooth disease type 4A	Conflicting interpretations of pathogenicity (Oct 19, 2022)	criteria provided, conflicting interpretations
Select item 149702762.	NM_018972.4(GDAP1):c.191A>G (p.Asn64Ser) GRCh37: Chr8:75263582 GRCh38: Chr8:74351347	GDAP1	N64S	Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K	Conflicting interpretations of pathogenicity (Aug 21, 2022)	criteria provided, conflicting interpretations
Select item 149141663.	NM_018972.4(GDAP1):c.196C>T (p.Pro66Ser) GRCh37: Chr8:75263587 GRCh38: Chr8:74351352	GDAP1	P66S	Charcot-Marie-Tooth disease type 4A	Likely pathogenic (Sep 17, 2021)	criteria provided, single submitter
Select item 146296664.	NM_018972.4(GDAP1):c.618G>T (p.Lys206Asn) GRCh37: Chr8:75275212 GRCh38: Chr8:74362977	GDAP1	K148N, K206N, K138N, K97N	Charcot-Marie-Tooth disease type 4A	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 145880965.	NM_018972.4(GDAP1):c.27_28del (p.Gly10fs) GRCh37: Chr8:75262719-75262720 GRCh38: Chr8:74350484-74350485	GDAP1	G10fs	Charcot-Marie-Tooth disease type 4A	Pathogenic (Aug 30, 2021)	criteria provided, single submitter
Select item 145796366.	NM_018972.4(GDAP1):c.928C>T (p.Arg310Trp) GRCh37: Chr8:75276453 GRCh38: Chr8:74364218	GDAP1	R310W, R201W, R242W, R252W	Charcot-Marie-Tooth disease type 4A	Pathogenic (Dec 10, 2021)	criteria provided, single submitter
Select item 145664667.	NC_000008.10:g.(?_75262697)_(75276602_?)del GRCh37: Chr8:75262697-75276602	GDAP1		Charcot-Marie-Tooth disease type 4A	Pathogenic (Jul 22, 2021)	criteria provided, single submitter
Select item 145572368.	NM_018972.4(GDAP1):c.13C>T (p.Gln5Ter) GRCh37: Chr8:75262709 GRCh38: Chr8:74350474	GDAP1	Q5*	Charcot-Marie-Tooth disease type 4A	Pathogenic (Jun 28, 2022)	criteria provided, single submitter
Select item 145236969.	NM_018972.4(GDAP1):c.250del (p.Glu84fs) GRCh37: Chr8:75263638 GRCh38: Chr8:74351403	GDAP1	E16fs, E84fs	Charcot-Marie-Tooth disease type 4A	Pathogenic (Dec 9, 2021)	criteria provided, single submitter
Select item 144099970.	NM_018972.4(GDAP1):c.908C>T (p.Ala303Val) GRCh37: Chr8:75276433 GRCh38: Chr8:74364198	GDAP1	A245V, A194V, A303V, A235V	Charcot-Marie-Tooth disease type 4A	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 142331371.	NM_018972.4(GDAP1):c.1014G>C (p.Met338Ile) GRCh37: Chr8:75276539 GRCh38: Chr8:74364304	GDAP1	M338I, M229I, M270I, M280I	Charcot-Marie-Tooth disease type 4A	Uncertain significance (Oct 28, 2022)	criteria provided, single submitter
Select item 142285872.	NC_000008.10:g.(?_74888517)_(75276602_?)dup GRCh37: Chr8:74888517-75276602	JPH1, GDAP1, LY96, TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2, Charcot-Marie-Tooth disease type 4A	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 140884273.	NM_018972.4(GDAP1):c.544C>T (p.Gln182Ter) GRCh37: Chr8:75274178 GRCh38: Chr8:74361943	GDAP1	Q114, Q124, Q73, Q182	Charcot-Marie-Tooth disease type 4A	Pathogenic (Jul 22, 2021)	criteria provided, single submitter
Select item 138543374.	NM_018972.4(GDAP1):c.874G>C (p.Val292Leu) GRCh37: Chr8:75276399 GRCh38: Chr8:74364164	GDAP1	V224L, V292L, V183L, V234L	Charcot-Marie-Tooth disease type 4A	Uncertain significance (Sep 17, 2022)	criteria provided, single submitter
Select item 137998175.	NM_018972.4(GDAP1):c.536del (p.Pro179fs) GRCh37: Chr8:75274168 GRCh38: Chr8:74361933	GDAP1	P111fs, P70fs, P121fs, P179fs	Charcot-Marie-Tooth disease type 4A	Pathogenic (Jan 13, 2021)	criteria provided, single submitter
Select item 135533776.	NM_018972.4(GDAP1):c.259A>G (p.Ile87Val) GRCh37: Chr8:75263650 GRCh38: Chr8:74351415	GDAP1	I19V, I87V	Charcot-Marie-Tooth disease type 4A	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 116852777.	NC_000008.10:g.75262607_75262608delCT GRCh37: Chr8:75262607-75262608 GRCh38: Chr8:74350372-74350373	GDAP1		Charcot-Marie-Tooth disease type 4A	Benign (Aug 31, 2022)	criteria provided, single submitter
Select item 115917178.	NM_018972.4(GDAP1):c.753C>T (p.Leu251=) GRCh37: Chr8:75276278 GRCh38: Chr8:74364043	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Oct 5, 2020)	criteria provided, single submitter
Select item 115456679.	NM_018972.4(GDAP1):c.837T>C (p.Tyr279=) GRCh37: Chr8:75276362 GRCh38: Chr8:74364127	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 115280780.	NM_018972.4(GDAP1):c.579+9A>G GRCh37: Chr8:75274222 GRCh38: Chr8:74361987	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Mar 3, 2020)	criteria provided, single submitter
Select item 113906581.	NM_018972.4(GDAP1):c.45G>A (p.Arg15=) GRCh37: Chr8:75262741 GRCh38: Chr8:74350506	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Feb 10, 2020)	criteria provided, single submitter
Select item 113860982.	NM_018972.4(GDAP1):c.864A>G (p.Thr288=) GRCh37: Chr8:75276389 GRCh38: Chr8:74364154	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 113575183.	NM_018972.4(GDAP1):c.357A>G (p.Pro119=) GRCh37: Chr8:75272418 GRCh38: Chr8:74360183	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Mar 8, 2019)	criteria provided, single submitter
Select item 112248484.	NM_018972.4(GDAP1):c.243C>T (p.Ile81=) GRCh37: Chr8:75263634 GRCh38: Chr8:74351399	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 112098785.	NM_018972.4(GDAP1):c.450C>T (p.Ser150=) GRCh37: Chr8:75272511 GRCh38: Chr8:74360276	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Mar 4, 2020)	criteria provided, single submitter
Select item 110523886.	NM_018972.4(GDAP1):c.885T>C (p.His295=) GRCh37: Chr8:75276410 GRCh38: Chr8:74364175	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Feb 4, 2020)	criteria provided, single submitter
Select item 110458787.	NM_018972.4(GDAP1):c.39C>T (p.Pro13=) GRCh37: Chr8:75262735 GRCh38: Chr8:74350500	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (May 11, 2022)	criteria provided, single submitter
Select item 109511488.	NM_018972.4(GDAP1):c.513G>A (p.Leu171=) GRCh37: Chr8:75274147 GRCh38: Chr8:74361912	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Sep 6, 2019)	criteria provided, single submitter
Select item 109121589.	NM_018972.4(GDAP1):c.915G>T (p.Leu305=) GRCh37: Chr8:75276440 GRCh38: Chr8:74364205	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 108937790.	NM_018972.4(GDAP1):c.594T>C (p.Asp198=) GRCh37: Chr8:75275188 GRCh38: Chr8:74362953	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Aug 3, 2021)	criteria provided, single submitter
Select item 108844191.	NM_018972.4(GDAP1):c.846T>A (p.Arg282=) GRCh37: Chr8:75276371 GRCh38: Chr8:74364136	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely benign (Oct 21, 2019)	criteria provided, single submitter
Select item 107657092.	NM_018972.4(GDAP1):c.22C>T (p.Gln8Ter) GRCh37: Chr8:75262718 GRCh38: Chr8:74350483	GDAP1	Q8*	Charcot-Marie-Tooth disease type 4A	Pathogenic (Sep 6, 2022)	criteria provided, single submitter
Select item 107285693.	NM_018972.4(GDAP1):c.577A>T (p.Lys193Ter) GRCh37: Chr8:75274211 GRCh38: Chr8:74361976	GDAP1	K125, K135, K193, K84	Charcot-Marie-Tooth disease type 4A	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 107120894.	NM_018972.4(GDAP1):c.235_239del (p.Val79fs) GRCh37: Chr8:75263623-75263627 GRCh38: Chr8:74351388-74351392	GDAP1	V11fs, V79fs	Charcot-Marie-Tooth disease type 4A	Pathogenic (Sep 25, 2020)	criteria provided, single submitter
Select item 106965195.	NM_018972.4(GDAP1):c.326T>A (p.Leu109Ter) GRCh37: Chr8:75272387 GRCh38: Chr8:74360152	GDAP1	L109, L41	Charcot-Marie-Tooth disease type 4A	Pathogenic (Aug 28, 2020)	criteria provided, single submitter
Select item 106922696.	NM_018972.4(GDAP1):c.361del (p.Val121fs) GRCh37: Chr8:75272420 GRCh38: Chr8:74360185	GDAP1	V121fs, V12fs, V53fs	Charcot-Marie-Tooth disease type 4A	Pathogenic (Jan 8, 2020)	criteria provided, single submitter
Select item 106754697.	NM_018972.4(GDAP1):c.117+1G>A GRCh37: Chr8:75262814 GRCh38: Chr8:74350579	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely pathogenic (Mar 5, 2021)	criteria provided, single submitter
Select item 106669998.	NC_000008.10:g.(?_75272366)_(75272551_?)del GRCh37: Chr8:75272366-75272551	GDAP1		Charcot-Marie-Tooth disease type 4A	Likely pathogenic (Aug 16, 2016)	criteria provided, single submitter
Select item 105499199.	NM_018972.4(GDAP1):c.151T>C (p.Cys51Arg) GRCh37: Chr8:75263542 GRCh38: Chr8:74351307	GDAP1	C51R	Charcot-Marie-Tooth disease type 4A	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 1053608100.	NM_018972.4(GDAP1):c.805G>A (p.Gly269Arg) GRCh37: Chr8:75276330 GRCh38: Chr8:74364095	GDAP1	G160R, G201R, G211R, G269R	Charcot-Marie-Tooth disease type 4A	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter

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