ClinVar for MedGen (Select 1626645) - 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 24177634.	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 24145585.	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 21990776.	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 21817587.	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 21796708.	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 21777959.	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 216804110.	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 216158611.	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 215463312.	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 215243113.	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 214394414.	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 212736715.	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 212466416.	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 211896317.	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 211874918.	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 209828619.	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 209566020.	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 207844421.	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 207153922.	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 207069223.	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 206703824.	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 205144625.	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 205016126.	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 204952027.	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 204940828.	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 204603729.	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 204056730.	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 203811931.	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 203142932.	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 202995533.	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 202238134.	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 201399035.	NM_004208.4(AIFM1):c.474+3A>G GRCh37: ChrX:129281724 GRCh38: ChrX:130147749	RAB33A, AIFM1		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Uncertain significance (Jul 4, 2022)	criteria provided, single submitter
Select item 201139436.	NM_004208.4(AIFM1):c.605+13A>G GRCh37: ChrX:129281455 GRCh38: ChrX:130147480	RAB33A, AIFM1, LOC126863317		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Likely benign (Nov 28, 2021)	criteria provided, single submitter
Select item 200864337.	NM_004208.4(AIFM1):c.397C>A (p.Pro133Thr) GRCh37: ChrX:129281804 GRCh38: ChrX:130147829	RAB33A, AIFM1	P129T, P133T	Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 200511438.	NM_004208.4(AIFM1):c.106+3dup GRCh37: ChrX:129299521-129299522 GRCh38: ChrX:130165547-130165548	AIFM1, LOC130068679, RAB33A		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 200263439.	NM_004208.4(AIFM1):c.875G>A (p.Ser292Asn) GRCh37: ChrX:129272660 GRCh38: ChrX:130138685	RAB33A, AIFM1	S288N, S292N	Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 199306740.	NM_004208.4(AIFM1):c.42G>A (p.Gln14=) GRCh37: ChrX:129299589 GRCh38: ChrX:130165615	AIFM1, LOC130068679, RAB33A		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Likely benign (May 11, 2022)	criteria provided, single submitter
Select item 199096341.	NM_004208.4(AIFM1):c.1630C>T (p.Pro544Ser) GRCh37: ChrX:129264085 GRCh38: ChrX:130130110	RAB33A, AIFM1	P544S, P205S, P540S	Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 198543942.	NM_004208.4(AIFM1):c.967+15G>A GRCh37: ChrX:129272553 GRCh38: ChrX:130138578	AIFM1, RAB33A		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 197577443.	NM_004208.4(AIFM1):c.350-16G>A GRCh37: ChrX:129281867 GRCh38: ChrX:130147892	RAB33A, AIFM1		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Dec 28, 2021)	criteria provided, single submitter
Select item 195417244.	NM_004208.4(AIFM1):c.174T>A (p.Gly58=) GRCh37: ChrX:129290510 GRCh38: ChrX:130156536	AIFM1, RAB33A		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 194847945.	NM_004208.4(AIFM1):c.606-12T>C GRCh37: ChrX:129279556 GRCh38: ChrX:130145581	RAB33A, AIFM1		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 194797346.	NM_004208.4(AIFM1):c.23C>T (p.Ala8Val) GRCh37: ChrX:129299608 GRCh38: ChrX:130165634	AIFM1, LOC130068679, RAB33A	A8V	Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Uncertain significance (Jul 4, 2022)	criteria provided, single submitter
Select item 193914747.	NM_004208.4(AIFM1):c.106+10C>T GRCh37: ChrX:129299515 GRCh38: ChrX:130165541	AIFM1, LOC130068679, RAB33A		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 193080048.	NM_004208.4(AIFM1):c.1770+7G>T GRCh37: ChrX:129263938 GRCh38: ChrX:130129963	RAB33A, AIFM1		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Likely benign (Mar 28, 2022)	criteria provided, single submitter
Select item 192915249.	NM_004208.4(AIFM1):c.1334T>C (p.Ile445Thr) GRCh37: ChrX:129267402 GRCh38: ChrX:130133427	RAB33A, AIFM1	I106T, I445T, I441T	Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 192782150.	NM_004208.4(AIFM1):c.409A>G (p.Ile137Val) GRCh37: ChrX:129281792 GRCh38: ChrX:130147817	AIFM1, RAB33A	I137V, I133V	Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Dec 25, 2021)	criteria provided, single submitter
Select item 192516151.	NM_004208.4(AIFM1):c.1449-10C>G GRCh37: ChrX:129265784 GRCh38: ChrX:130131809	AIFM1, RAB33A		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 191818352.	NM_004208.4(AIFM1):c.1695C>T (p.Ile565=) GRCh37: ChrX:129264020 GRCh38: ChrX:130130045	AIFM1, RAB33A		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 190927153.	NM_004208.4(AIFM1):c.46C>T (p.Leu16=) GRCh37: ChrX:129299585 GRCh38: ChrX:130165611	AIFM1, LOC130068679, RAB33A		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Likely benign (Jan 23, 2022)	criteria provided, single submitter
Select item 190760754.	NM_004208.4(AIFM1):c.19C>T (p.Leu7=) GRCh37: ChrX:129299612 GRCh38: ChrX:130165638	AIFM1, LOC130068679, RAB33A		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 177282855.	NM_004208.4(AIFM1):c.1448+5T>C GRCh37: ChrX:129267283 GRCh38: ChrX:130133308	RAB33A, AIFM1		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency, Inborn genetic diseases	Uncertain significance (Jul 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171901656.	NM_004208.4(AIFM1):c.818C>T (p.Ala273Val) GRCh37: ChrX:129273810 GRCh38: ChrX:130139835	AIFM1, RAB33A	A269V, A273V	Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 170786457.	NM_004208.4(AIFM1):c.1636A>G (p.Ser546Gly) GRCh37: ChrX:129264079 GRCh38: ChrX:130130104	AIFM1, RAB33A	S207G, S542G, S546G	not provided, Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Mar 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167340958.	NM_004208.4(AIFM1):c.870T>C (p.Phe290=) GRCh37: ChrX:129272665 GRCh38: ChrX:130138690	RAB33A, AIFM1		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 162904559.	NM_004208.4(AIFM1):c.696+15C>T GRCh37: ChrX:129279439 GRCh38: ChrX:130145464	AIFM1, RAB33A		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 162891960.	NM_004208.4(AIFM1):c.1305+9G>T GRCh37: ChrX:129270011 GRCh38: ChrX:130136036	AIFM1, RAB33A		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Oct 27, 2021)	criteria provided, single submitter
Select item 162572361.	NM_004208.4(AIFM1):c.859-13T>C GRCh37: ChrX:129272689 GRCh38: ChrX:130138714	RAB33A, AIFM1		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Likely benign (Jun 5, 2022)	criteria provided, single submitter
Select item 162220662.	NM_004208.4(AIFM1):c.828G>A (p.Glu276=) GRCh37: ChrX:129273800 GRCh38: ChrX:130139825	AIFM1, RAB33A		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Dec 19, 2020)	criteria provided, single submitter
Select item 162177563.	NM_004208.4(AIFM1):c.1771-13C>T GRCh37: ChrX:129263616 GRCh38: ChrX:130129641	AIFM1, RAB33A		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 161573364.	NM_004208.4(AIFM1):c.1305+8_1305+9del GRCh37: ChrX:129270011-129270012 GRCh38: ChrX:130136036-130136037	AIFM1, RAB33A		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Nov 9, 2021)	criteria provided, single submitter
Select item 161451065.	NM_004208.4(AIFM1):c.1164+11A>C GRCh37: ChrX:129270607 GRCh38: ChrX:130136632	AIFM1, RAB33A		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Oct 13, 2021)	criteria provided, single submitter
Select item 161428966.	NM_004208.4(AIFM1):c.106+15C>G GRCh37: ChrX:129299510 GRCh38: ChrX:130165536	LOC130068679, RAB33A, AIFM1		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 159931567.	NM_004208.4(AIFM1):c.250-4G>A GRCh37: ChrX:129283547 GRCh38: ChrX:130149572	AIFM1, RAB33A		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Benign (Jul 12, 2022)	criteria provided, single submitter
Select item 159755168.	NM_004208.4(AIFM1):c.1448+11T>C GRCh37: ChrX:129267277 GRCh38: ChrX:130133302	AIFM1, RAB33A		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 159669769.	NM_004208.4(AIFM1):c.1771-11C>T GRCh37: ChrX:129263614 GRCh38: ChrX:130129639	AIFM1, RAB33A		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Likely benign (Apr 10, 2021)	criteria provided, single submitter
Select item 159277070.	NM_004208.4(AIFM1):c.1198C>T (p.Leu400=) GRCh37: ChrX:129270127 GRCh38: ChrX:130136152	RAB33A, AIFM1		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 159213271.	NM_004208.4(AIFM1):c.507G>A (p.Pro169=) GRCh37: ChrX:129281566 GRCh38: ChrX:130147591	AIFM1, RAB33A		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Likely benign (Nov 3, 2022)	criteria provided, single submitter
Select item 159202372.	NM_004208.4(AIFM1):c.1650T>A (p.Val550=) GRCh37: ChrX:129264065 GRCh38: ChrX:130130090	AIFM1, RAB33A		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Likely benign (Dec 30, 2021)	criteria provided, single submitter
Select item 158576873.	NM_004208.4(AIFM1):c.1305+17A>G GRCh37: ChrX:129270003 GRCh38: ChrX:130136028	RAB33A, AIFM1		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 158284974.	NM_004208.4(AIFM1):c.1448+16C>G GRCh37: ChrX:129267272 GRCh38: ChrX:130133297	AIFM1, RAB33A		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Likely benign (Oct 4, 2021)	criteria provided, single submitter
Select item 158182675.	NM_004208.4(AIFM1):c.75C>T (p.Val25=) GRCh37: ChrX:129299556 GRCh38: ChrX:130165582	AIFM1, LOC130068679, RAB33A		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 158053676.	NM_004208.4(AIFM1):c.1662C>T (p.Pro554=) GRCh37: ChrX:129264053 GRCh38: ChrX:130130078	AIFM1, RAB33A		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Likely benign (Aug 27, 2021)	criteria provided, single submitter
Select item 157627377.	NM_004208.4(AIFM1):c.1734A>G (p.Leu578=) GRCh37: ChrX:129263981 GRCh38: ChrX:130130006	AIFM1, RAB33A		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Jul 31, 2021)	criteria provided, single submitter
Select item 157406678.	NM_004208.4(AIFM1):c.498T>C (p.Pro166=) GRCh37: ChrX:129281575 GRCh38: ChrX:130147600	AIFM1, RAB33A		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Jul 26, 2021)	criteria provided, single submitter
Select item 157089779.	NM_004208.4(AIFM1):c.782-18T>C GRCh37: ChrX:129273864 GRCh38: ChrX:130139889	RAB33A, AIFM1		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Likely benign (Jun 22, 2021)	criteria provided, single submitter
Select item 156914680.	NM_004208.4(AIFM1):c.1448+14G>C GRCh37: ChrX:129267274 GRCh38: ChrX:130133299	AIFM1, RAB33A		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Likely benign (Sep 26, 2021)	criteria provided, single submitter
Select item 156738081.	NM_004208.4(AIFM1):c.1473C>T (p.Gly491=) GRCh37: ChrX:129265750 GRCh38: ChrX:130131775	AIFM1, RAB33A		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Dec 12, 2021)	criteria provided, single submitter
Select item 156510282.	NM_004208.4(AIFM1):c.1821A>G (p.Leu607=) GRCh37: ChrX:129263553 GRCh38: ChrX:130129578	AIFM1, RAB33A		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Likely benign (Sep 25, 2021)	criteria provided, single submitter
Select item 155664683.	NM_004208.4(AIFM1):c.968-17C>G GRCh37: ChrX:129271177 GRCh38: ChrX:130137202	AIFM1, RAB33A		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (May 4, 2021)	criteria provided, single submitter
Select item 155038984.	NM_004208.4(AIFM1):c.1185G>C (p.Val395=) GRCh37: ChrX:129270140 GRCh38: ChrX:130136165	AIFM1, RAB33A		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Apr 12, 2021)	criteria provided, single submitter
Select item 154213885.	NM_004208.4(AIFM1):c.429T>G (p.Ala143=) GRCh37: ChrX:129281772 GRCh38: ChrX:130147797	AIFM1, RAB33A		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Oct 31, 2021)	criteria provided, single submitter
Select item 153811086.	NM_004208.4(AIFM1):c.1008G>A (p.Glu336=) GRCh37: ChrX:129271120 GRCh38: ChrX:130137145	AIFM1, RAB33A		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 153797887.	NM_004208.4(AIFM1):c.106+19G>A GRCh37: ChrX:129299506 GRCh38: ChrX:130165532	AIFM1, LOC130068679, RAB33A		Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Likely benign (Mar 1, 2021)	criteria provided, single submitter
Select item 153105088.	NM_004208.4(AIFM1):c.605+14T>C GRCh37: ChrX:129281454 GRCh38: ChrX:130147479	AIFM1, LOC126863317, RAB33A		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 153014789.	NM_004208.4(AIFM1):c.605+9G>T GRCh37: ChrX:129281459 GRCh38: ChrX:130147484	AIFM1, LOC126863317, RAB33A		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Feb 3, 2021)	criteria provided, single submitter
Select item 152075190.	NM_004208.4(AIFM1):c.271G>A (p.Asp91Asn) GRCh37: ChrX:129283522 GRCh38: ChrX:130149547	AIFM1, RAB33A	D87N, D91N	Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 151816091.	NM_004208.4(AIFM1):c.1703T>G (p.Leu568Arg) GRCh37: ChrX:129264012 GRCh38: ChrX:130130037	AIFM1, RAB33A	L229R, L568R, L564R	Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 151198692.	NM_004208.4(AIFM1):c.696+3G>A GRCh37: ChrX:129279451 GRCh38: ChrX:130145476	AIFM1, RAB33A		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Uncertain significance (Jun 21, 2021)	criteria provided, single submitter
Select item 150833893.	NM_004208.4(AIFM1):c.937A>G (p.Ser313Gly) GRCh37: ChrX:129272598 GRCh38: ChrX:130138623	AIFM1, RAB33A	S309G, S313G	Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 150326594.	NM_004208.4(AIFM1):c.74T>G (p.Val25Gly) GRCh37: ChrX:129299557 GRCh38: ChrX:130165583	AIFM1, LOC130068679, RAB33A	V25G	Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 149131895.	NM_004208.4(AIFM1):c.1165G>T (p.Val389Leu) GRCh37: ChrX:129270160 GRCh38: ChrX:130136185	RAB33A, AIFM1	V50L, V389L, V385L	Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 148999396.	NM_004208.4(AIFM1):c.214A>G (p.Ile72Val) GRCh37: ChrX:129290470 GRCh38: ChrX:130156496	AIFM1, RAB33A	I72V	Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 148191597.	NM_004208.4(AIFM1):c.1495G>T (p.Asp499Tyr) GRCh37: ChrX:129265728 GRCh38: ChrX:130131753	AIFM1, RAB33A	D160Y, D495Y, D499Y	Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X, not provided	Uncertain significance (Jan 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 148024098.	NM_004208.4(AIFM1):c.186C>T (p.Gly62=) GRCh37: ChrX:129290498 GRCh38: ChrX:130156524	AIFM1, RAB33A		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 146776399.	NM_004208.4(AIFM1):c.1729G>A (p.Val577Met) GRCh37: ChrX:129263986 GRCh38: ChrX:130130011	RAB33A, AIFM1	V577M, V238M, V573M	Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 1459766100.	NM_004208.4(AIFM1):c.606-19C>G GRCh37: ChrX:129279563 GRCh38: ChrX:130145588	AIFM1, RAB33A		Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency	Likely benign (Jul 19, 2022)	criteria provided, single submitter

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