ClinVar for MedGen (Select 468447) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24250401.	NC_000023.10:g.(?_129263532)_(129272696_?)dup GRCh37: ChrX:129263532-129272696	AIFM1		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 24250392.	NC_000023.10:g.(?_129263532)_(129299630_?)dup GRCh37: ChrX:129263532-129299630	AIFM1		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 24250383.	NC_000023.10:g.(?_129263532)_(129299630_?)del GRCh37: ChrX:129263532-129299630	AIFM1		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 24245314.	NC_000023.10:g.(?_106871859)_(106872000_?)dup GRCh37: ChrX:106871859-106872000	PRPS1		Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 24245305.	NC_000023.10:g.(?_106456106)_(106959200_?)dup GRCh37: ChrX:106456106-106959200	DNAAF6, FRMPD3, PRPS1, TSC22D3		Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 24245296.	NC_000023.10:g.(?_106046084)_(108868249_?)del GRCh37: ChrX:106046084-108868249	DNAAF6, FRMPD3, GUCY2F, IRS4, ATG4A, CLDN2, COL4A5, COL4A6, KCNE5, MID2, MORC4, NUP62CL, NXT2, PRPS1, PSMD10, RBM41, RIPPLY1, TBC1D8B, TEX13B, TSC22D3, VSIG1		Charcot-Marie-Tooth Neuropathy X	Pathogenic (Aug 15, 2022)	criteria provided, single submitter
Select item 24225037.	NC_000023.10:g.(?_70443558)_(70444409_?)del GRCh37: ChrX:70443558-70444409	GJB1		Charcot-Marie-Tooth Neuropathy X	Pathogenic (Sep 28, 2022)	criteria provided, single submitter
Select item 24177638.	NM_004208.4(AIFM1):c.250-9G>A GRCh37: ChrX:129283552 GRCh38: ChrX:130149577	AIFM1, RAB33A		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 24158669.	NM_000166.6(GJB1):c.148T>G (p.Ser50Ala) GRCh37: ChrX:70443705 GRCh38: ChrX:71223855	GJB1	S50A	Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 241455810.	NM_004208.4(AIFM1):c.1073G>A (p.Arg358Gln) GRCh37: ChrX:129271055 GRCh38: ChrX:130137080	AIFM1, RAB33A	R19Q, R354Q, R358Q	Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 219907711.	NM_004208.4(AIFM1):c.1820T>A (p.Leu607Gln) GRCh37: ChrX:129263554 GRCh38: ChrX:130129579	AIFM1, RAB33A	L607Q, L268Q, L603Q	Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 219580712.	NM_000166.6(GJB1):c.54T>C (p.Thr18=) GRCh37: ChrX:70443611 GRCh38: ChrX:71223761	GJB1		Charcot-Marie-Tooth Neuropathy X	Likely benign (Jan 6, 2022)	criteria provided, single submitter
Select item 219484513.	NM_002764.4(PRPS1):c.111C>T (p.Asn37=) GRCh37: ChrX:106871969 GRCh38: ChrX:107628739	PRPS1		Charcot-Marie-Tooth Neuropathy X	Likely benign (Dec 13, 2021)	criteria provided, single submitter
Select item 219134314.	NM_002764.4(PRPS1):c.624G>A (p.Val208=) GRCh37: ChrX:106888500 GRCh38: ChrX:107645270	PRPS1		Charcot-Marie-Tooth Neuropathy X	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 218793015.	NM_000166.6(GJB1):c.625G>T (p.Val209Leu) GRCh37: ChrX:70444182 GRCh38: ChrX:71224332	GJB1	V209L	Charcot-Marie-Tooth Neuropathy X	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 218188816.	NM_002764.4(PRPS1):c.499A>G (p.Ile167Val) GRCh37: ChrX:106885689 GRCh38: ChrX:107642459	PRPS1	I167V	Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 218175817.	NM_004208.4(AIFM1):c.474+8G>A GRCh37: ChrX:129281719 GRCh38: ChrX:130147744	RAB33A, AIFM1		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Likely benign (May 31, 2022)	criteria provided, single submitter
Select item 217967018.	NM_004208.4(AIFM1):c.310C>T (p.Leu104=) GRCh37: ChrX:129283483 GRCh38: ChrX:130149508	AIFM1, RAB33A		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 217779519.	NM_004208.4(AIFM1):c.1035C>G (p.Pro345=) GRCh37: ChrX:129271093 GRCh38: ChrX:130137118	AIFM1, RAB33A		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Jun 29, 2022)	criteria provided, single submitter
Select item 217534320.	NM_002764.4(PRPS1):c.405+14C>T GRCh37: ChrX:106884244 GRCh38: ChrX:107641014	PRPS1		Charcot-Marie-Tooth Neuropathy X	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 217018521.	NM_002764.4(PRPS1):c.531-15C>A GRCh37: ChrX:106888392 GRCh38: ChrX:107645162	PRPS1		Charcot-Marie-Tooth Neuropathy X	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 216804122.	NM_004208.4(AIFM1):c.1770+11G>A GRCh37: ChrX:129263934 GRCh38: ChrX:130129959	AIFM1, RAB33A		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 216158623.	NM_004208.4(AIFM1):c.1378G>A (p.Val460Met) GRCh37: ChrX:129267358 GRCh38: ChrX:130133383	AIFM1, RAB33A	V456M, V121M, V460M	Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 215955924.	NM_000166.6(GJB1):c.136G>A (p.Asp46Asn) GRCh37: ChrX:70443693 GRCh38: ChrX:71223843	GJB1	D46N	GJB1-related condition, Charcot-Marie-Tooth Neuropathy X	Conflicting interpretations of pathogenicity (Mar 7, 2023)	criteria provided, conflicting interpretations
Select item 215760325.	NM_000166.6(GJB1):c.228G>A (p.Leu76=) GRCh37: ChrX:70443785 GRCh38: ChrX:71223935	GJB1		Charcot-Marie-Tooth Neuropathy X	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 215642226.	NM_000166.6(GJB1):c.791G>A (p.Arg264His) GRCh37: ChrX:70444348 GRCh38: ChrX:71224498	GJB1	R264H	Charcot-Marie-Tooth Neuropathy X, Inborn genetic diseases	Uncertain significance (Aug 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 215633527.	NM_000166.6(GJB1):c.803G>C (p.Gly268Ala) GRCh37: ChrX:70444360 GRCh38: ChrX:71224510	GJB1	G268A	Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 215463328.	NM_004208.4(AIFM1):c.475-8G>A GRCh37: ChrX:129281606 GRCh38: ChrX:130147631	AIFM1, RAB33A		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 215243129.	NM_004208.4(AIFM1):c.249+20G>A GRCh37: ChrX:129290415 GRCh38: ChrX:130156441	RAB33A, AIFM1		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Oct 12, 2022)	criteria provided, single submitter
Select item 214844830.	NM_000166.6(GJB1):c.480T>C (p.Tyr160=) GRCh37: ChrX:70444037 GRCh38: ChrX:71224187	GJB1		Charcot-Marie-Tooth Neuropathy X	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 214469931.	NM_002764.4(PRPS1):c.405+13G>A GRCh37: ChrX:106884243 GRCh38: ChrX:107641013	PRPS1		Charcot-Marie-Tooth Neuropathy X	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 214394432.	NM_004208.4(AIFM1):c.722A>G (p.Asn241Ser) GRCh37: ChrX:129274567 GRCh38: ChrX:130140592	AIFM1, RAB33A	N237S, N241S	Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Uncertain significance (Feb 12, 2022)	criteria provided, single submitter
Select item 213860933.	NM_000166.6(GJB1):c.554C>T (p.Thr185Ile) GRCh37: ChrX:70444111 GRCh38: ChrX:71224261	GJB1	T185I	Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 213860734.	NM_000166.6(GJB1):c.526A>C (p.Thr176Pro) GRCh37: ChrX:70444083 GRCh38: ChrX:71224233	GJB1	T176P	Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 213860635.	NM_000166.6(GJB1):c.412A>G (p.Ser138Gly) GRCh37: ChrX:70443969 GRCh38: ChrX:71224119	GJB1	S138G	Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 213860536.	NM_000166.6(GJB1):c.5A>G (p.Asn2Ser) GRCh37: ChrX:70443562 GRCh38: ChrX:71223712	GJB1	N2S	Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 213860437.	NM_000166.6(GJB1):c.3G>C (p.Met1Ile) GRCh37: ChrX:70443560 GRCh38: ChrX:71223710	GJB1	M1I	Charcot-Marie-Tooth Neuropathy X	Pathogenic (Jul 5, 2022)	criteria provided, single submitter
Select item 213860338.	NM_000166.6(GJB1):c.-16-1G>A GRCh37: ChrX:70443541 GRCh38: ChrX:71223691	GJB1		Charcot-Marie-Tooth Neuropathy X	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 213819239.	NM_000166.6(GJB1):c.81C>T (p.Val27=) GRCh37: ChrX:70443638 GRCh38: ChrX:71223788	GJB1		Charcot-Marie-Tooth Neuropathy X	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 213498340.	NM_000166.6(GJB1):c.329G>T (p.Gly110Val) GRCh37: ChrX:70443886 GRCh38: ChrX:71224036	GJB1	G110V	Charcot-Marie-Tooth Neuropathy X	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 212744541.	NM_002764.4(PRPS1):c.796T>C (p.Phe266Leu) GRCh37: ChrX:106890927 GRCh38: ChrX:107647697	PRPS1	F266L, F62L	Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 212736742.	NM_004208.4(AIFM1):c.98_103del (p.Arg33_Leu34del) GRCh37: ChrX:129299528-129299533 GRCh38: ChrX:130165554-130165559	AIFM1, LOC130068679, RAB33A		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 212687943.	NM_002764.4(PRPS1):c.307-6A>G GRCh37: ChrX:106884126 GRCh38: ChrX:107640896	PRPS1		Charcot-Marie-Tooth Neuropathy X	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 212466444.	NM_004208.4(AIFM1):c.1574-3C>T GRCh37: ChrX:129264144 GRCh38: ChrX:130130169	RAB33A, AIFM1		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 212450145.	NM_000166.6(GJB1):c.240G>T (p.Gln80His) GRCh37: ChrX:70443797 GRCh38: ChrX:71223947	GJB1	Q80H	Charcot-Marie-Tooth Neuropathy X	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 212417346.	NM_002764.4(PRPS1):c.183C>A (p.Gly61=) GRCh37: ChrX:106882585 GRCh38: ChrX:107639355	PRPS1		Charcot-Marie-Tooth Neuropathy X	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 212402847.	NM_000166.6(GJB1):c.562dup (p.Thr188fs) GRCh37: ChrX:70444115-70444116 GRCh38: ChrX:71224265-71224266	GJB1	T188fs	Charcot-Marie-Tooth Neuropathy X	Pathogenic (Apr 10, 2022)	criteria provided, single submitter
Select item 212214448.	NM_002764.4(PRPS1):c.570del (p.Ala190_Leu191insTer) GRCh37: ChrX:106888445 GRCh38: ChrX:107645215	PRPS1		Charcot-Marie-Tooth Neuropathy X	Pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 212213249.	NM_002764.4(PRPS1):c.286C>T (p.Arg96Trp) GRCh37: ChrX:106882688 GRCh38: ChrX:107639458	PRPS1	R96W	Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 212010650.	NM_000166.6(GJB1):c.157del (p.Cys53fs) GRCh37: ChrX:70443714 GRCh38: ChrX:71223864	GJB1	C53fs	Charcot-Marie-Tooth Neuropathy X	Pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 211896351.	NM_004208.4(AIFM1):c.781+9T>C GRCh37: ChrX:129274499 GRCh38: ChrX:130140524	AIFM1, RAB33A		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Mar 28, 2022)	criteria provided, single submitter
Select item 211874952.	NM_004208.4(AIFM1):c.1771-12T>C GRCh37: ChrX:129263615 GRCh38: ChrX:130129640	RAB33A, AIFM1		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Mar 28, 2022)	criteria provided, single submitter
Select item 211853953.	NM_002764.4(PRPS1):c.940A>T (p.Ser314Cys) GRCh37: ChrX:106893245 GRCh38: ChrX:107650015	PRPS1	S110C, S314C	Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 211560054.	NM_002764.4(PRPS1):c.758T>A (p.Phe253Tyr) GRCh37: ChrX:106890889 GRCh38: ChrX:107647659	PRPS1	F253Y, F49Y	Charcot-Marie-Tooth Neuropathy X	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 211355855.	NM_000166.6(GJB1):c.788T>C (p.Leu263Pro) GRCh37: ChrX:70444345 GRCh38: ChrX:71224495	GJB1	L263P	Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 211263356.	NM_002764.4(PRPS1):c.366T>C (p.Asp122=) GRCh37: ChrX:106884191 GRCh38: ChrX:107640961	PRPS1		Charcot-Marie-Tooth Neuropathy X	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 210928257.	NM_000166.6(GJB1):c.301A>C (p.Ile101Leu) GRCh37: ChrX:70443858 GRCh38: ChrX:71224008	GJB1	I101L	Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 210757058.	NM_000166.6(GJB1):c.364A>C (p.Arg122=) GRCh37: ChrX:70443921 GRCh38: ChrX:71224071	GJB1		Charcot-Marie-Tooth Neuropathy X	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 210700459.	NM_002764.4(PRPS1):c.492C>T (p.Asn164=) GRCh37: ChrX:106885682 GRCh38: ChrX:107642452	PRPS1		Charcot-Marie-Tooth Neuropathy X	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 210062060.	NM_000166.6(GJB1):c.512A>G (p.Tyr171Cys) GRCh37: ChrX:70444069 GRCh38: ChrX:71224219	GJB1	Y171C	Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 209925061.	NM_002764.4(PRPS1):c.827C>A (p.Pro276His) GRCh37: ChrX:106890958 GRCh38: ChrX:107647728	PRPS1	P276H, P72H	Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 209922562.	NM_000166.6(GJB1):c.526A>G (p.Thr176Ala) GRCh37: ChrX:70444083 GRCh38: ChrX:71224233	GJB1	T176A	Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Jul 4, 2022)	criteria provided, single submitter
Select item 209828663.	NM_004208.4(AIFM1):c.1181T>C (p.Ile394Thr) GRCh37: ChrX:129270144 GRCh38: ChrX:130136169	AIFM1, RAB33A	I55T, I394T, I390T	Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 209566064.	NM_004208.4(AIFM1):c.474+5G>A GRCh37: ChrX:129281722 GRCh38: ChrX:130147747	RAB33A, AIFM1		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 209221765.	NM_002764.4(PRPS1):c.785A>G (p.Asn262Ser) GRCh37: ChrX:106890916 GRCh38: ChrX:107647686	PRPS1	N58S, N262S	Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 208559566.	NM_000166.6(GJB1):c.372G>T (p.Lys124Asn) GRCh37: ChrX:70443929 GRCh38: ChrX:71224079	GJB1	K124N	Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 208175667.	NM_000166.6(GJB1):c.300C>T (p.His100=) GRCh37: ChrX:70443857 GRCh38: ChrX:71224007	GJB1		Charcot-Marie-Tooth Neuropathy X	Likely benign (Sep 8, 2022)	criteria provided, single submitter
Select item 207844468.	NM_004208.4(AIFM1):c.376G>A (p.Asp126Asn) GRCh37: ChrX:129281825 GRCh38: ChrX:130147850	RAB33A, AIFM1	D122N, D126N	Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Jan 14, 2022)	criteria provided, single submitter
Select item 207628569.	NM_000166.6(GJB1):c.52A>T (p.Thr18Ser) GRCh37: ChrX:70443609 GRCh38: ChrX:71223759	GJB1	T18S	Charcot-Marie-Tooth Neuropathy X	Likely pathogenic (Jan 6, 2022)	criteria provided, single submitter
Select item 207479570.	NM_002764.4(PRPS1):c.269C>T (p.Pro90Leu) GRCh37: ChrX:106882671 GRCh38: ChrX:107639441	PRPS1	P90L	Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 207153971.	NM_004208.4(AIFM1):c.1779G>A (p.Lys593=) GRCh37: ChrX:129263595 GRCh38: ChrX:130129620	AIFM1, RAB33A		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Likely benign (Jul 31, 2022)	criteria provided, single submitter
Select item 207145172.	NM_000166.6(GJB1):c.428T>G (p.Leu143Arg) GRCh37: ChrX:70443985 GRCh38: ChrX:71224135	GJB1	L143R	Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 207069273.	NM_004208.4(AIFM1):c.106+12A>C GRCh37: ChrX:129299513 GRCh38: ChrX:130165539	AIFM1, LOC130068679, RAB33A		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 206703874.	NM_004208.4(AIFM1):c.1075+18A>G GRCh37: ChrX:129271035 GRCh38: ChrX:130137060	AIFM1, RAB33A		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Likely benign (Dec 28, 2021)	criteria provided, single submitter
Select item 206504375.	NM_002764.4(PRPS1):c.480T>C (p.Ser160=) GRCh37: ChrX:106885670 GRCh38: ChrX:107642440	PRPS1		Charcot-Marie-Tooth Neuropathy X	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 206404976.	NM_002764.4(PRPS1):c.63C>T (p.Asp21=) GRCh37: ChrX:106871921 GRCh38: ChrX:107628691	PRPS1		Charcot-Marie-Tooth Neuropathy X	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 205737277.	NM_000166.6(GJB1):c.30C>G (p.Leu10=) GRCh37: ChrX:70443587 GRCh38: ChrX:71223737	GJB1		Charcot-Marie-Tooth Neuropathy X	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 205144678.	NM_004208.4(AIFM1):c.552C>T (p.Asp184=) GRCh37: ChrX:129281521 GRCh38: ChrX:130147546	AIFM1, RAB33A		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 205016179.	NM_004208.4(AIFM1):c.606-14T>C GRCh37: ChrX:129279558 GRCh38: ChrX:130145583	RAB33A, AIFM1		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Likely benign (Apr 13, 2022)	criteria provided, single submitter
Select item 204952080.	NM_004208.4(AIFM1):c.1306-4A>G GRCh37: ChrX:129267434 GRCh38: ChrX:130133459	AIFM1, RAB33A		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Aug 26, 2022)	criteria provided, single submitter
Select item 204940881.	NM_004208.4(AIFM1):c.1586G>T (p.Arg529Leu) GRCh37: ChrX:129264129 GRCh38: ChrX:130130154	RAB33A, AIFM1	R190L, R529L, R525L	Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 204873582.	NM_000166.6(GJB1):c.409A>G (p.Ile137Val) GRCh37: ChrX:70443966 GRCh38: ChrX:71224116	GJB1	I137V	Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Jan 6, 2022)	criteria provided, single submitter
Select item 204603783.	NM_004208.4(AIFM1):c.659T>C (p.Ile220Thr) GRCh37: ChrX:129279491 GRCh38: ChrX:130145516	AIFM1, RAB33A	I216T, I220T	Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 204056784.	NM_004208.4(AIFM1):c.1771-16_1771-13del GRCh37: ChrX:129263616-129263619 GRCh38: ChrX:130129641-130129644	RAB33A, AIFM1		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 204017685.	NM_002764.4(PRPS1):c.306+17A>T GRCh37: ChrX:106882725 GRCh38: ChrX:107639495	PRPS1		Charcot-Marie-Tooth Neuropathy X	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 203811986.	NM_004208.4(AIFM1):c.648C>T (p.Asp216=) GRCh37: ChrX:129279502 GRCh38: ChrX:130145527	AIFM1, RAB33A		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 203560687.	NM_000166.6(GJB1):c.198C>T (p.Asp66=) GRCh37: ChrX:70443755 GRCh38: ChrX:71223905	GJB1		Charcot-Marie-Tooth Neuropathy X	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 203466388.	NM_002764.4(PRPS1):c.435G>A (p.Leu145=) GRCh37: ChrX:106885625 GRCh38: ChrX:107642395	PRPS1		Charcot-Marie-Tooth Neuropathy X	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 203445089.	NM_000166.6(GJB1):c.454G>A (p.Val152Ile) GRCh37: ChrX:70444011 GRCh38: ChrX:71224161	GJB1	V152I	Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 203384990.	NM_001097642.3(GJB1):c.-16-511G>T GRCh37: ChrX:70443031 GRCh38: ChrX:71223181	GJB1		Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 203142991.	NM_004208.4(AIFM1):c.960C>T (p.Gly320=) GRCh37: ChrX:129272575 GRCh38: ChrX:130138600	AIFM1, RAB33A		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 203004892.	NM_000166.6(GJB1):c.186C>A (p.Ser62Arg) GRCh37: ChrX:70443743 GRCh38: ChrX:71223893	GJB1	S62R	Charcot-Marie-Tooth Neuropathy X	Pathogenic (Sep 11, 2022)	criteria provided, single submitter
Select item 202995593.	NM_004208.4(AIFM1):c.606-14T>A GRCh37: ChrX:129279558 GRCh38: ChrX:130145583	AIFM1, RAB33A		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 202709994.	NM_000166.6(GJB1):c.192C>A (p.Cys64Ter) GRCh37: ChrX:70443749 GRCh38: ChrX:71223899	GJB1	C64*	Charcot-Marie-Tooth Neuropathy X	Pathogenic (Aug 25, 2022)	criteria provided, single submitter
Select item 202531195.	NM_002764.4(PRPS1):c.191A>T (p.Asn64Ile) GRCh37: ChrX:106882593 GRCh38: ChrX:107639363	PRPS1	N64I	Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 202463896.	NM_002764.4(PRPS1):c.865-20T>G GRCh37: ChrX:106893150 GRCh38: ChrX:107649920	PRPS1		Charcot-Marie-Tooth Neuropathy X	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 202342297.	NM_000166.6(GJB1):c.133G>C (p.Gly45Arg) GRCh37: ChrX:70443690 GRCh38: ChrX:71223840	GJB1	G45R	Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 202238198.	NM_004208.4(AIFM1):c.350-3C>T GRCh37: ChrX:129281854 GRCh38: ChrX:130147879	RAB33A, AIFM1		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 202228299.	NM_002764.4(PRPS1):c.450T>C (p.Ala150=) GRCh37: ChrX:106885640 GRCh38: ChrX:107642410	PRPS1		Charcot-Marie-Tooth Neuropathy X	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 2019179100.	NM_002764.4(PRPS1):c.122+18A>G GRCh37: ChrX:106871998 GRCh38: ChrX:107628768	PRPS1		Charcot-Marie-Tooth Neuropathy X	Likely benign (Jul 23, 2022)	criteria provided, single submitter

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