ClinVar for MedGen (Select 91000) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26272271.	NM_000387.6(SLC25A20):c.241G>A (p.Gly81Arg) GRCh37: Chr3:48921515 GRCh38: Chr3:48884082	SLC25A20	G81R	Carnitine acylcarnitine translocase deficiency	Likely pathogenic (Sep 14, 2023)	criteria provided, single submitter
Select item 24284032.	NM_000387.6(SLC25A20):c.632G>A (p.Arg211Gln) GRCh37: Chr3:48896611 GRCh38: Chr3:48859178	SLC25A20	R211Q	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 24229993.	NC_000003.11:g.(?_48936103)_(48936227_?)dup GRCh37: Chr3:48936103-48936227	SLC25A20		Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 24229984.	NC_000003.11:g.(?_48916771)_(48921577_?)del GRCh37: Chr3:48916771-48921577	SLC25A20		Carnitine acylcarnitine translocase deficiency	Pathogenic (Mar 9, 2022)	criteria provided, single submitter
Select item 24229975.	NC_000003.11:g.(?_48929393)_(48929525_?)del GRCh37: Chr3:48929393-48929525	SLC25A20		Carnitine acylcarnitine translocase deficiency	Pathogenic (Feb 19, 2022)	criteria provided, single submitter
Select item 24220896.	NM_000387.6(SLC25A20):c.254T>A (p.Met85Lys) GRCh37: Chr3:48921502 GRCh38: Chr3:48884069	SLC25A20	M85K	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Apr 3, 2022)	criteria provided, single submitter
Select item 24141787.	NM_000387.6(SLC25A20):c.881T>C (p.Leu294Pro) GRCh37: Chr3:48895168 GRCh38: Chr3:48857735	SLC25A20	L294P	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 22033908.	NM_000387.6(SLC25A20):c.260C>T (p.Ala87Val) GRCh37: Chr3:48921496 GRCh38: Chr3:48884063	SLC25A20	A87V	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 21989139.	NM_000387.6(SLC25A20):c.99G>A (p.Thr33=) GRCh37: Chr3:48936129 GRCh38: Chr3:48898696	SLC25A20		Carnitine acylcarnitine translocase deficiency	Likely benign (Mar 21, 2022)	criteria provided, single submitter
Select item 219536910.	NM_000387.6(SLC25A20):c.497G>A (p.Arg166Gln) GRCh37: Chr3:48900013 GRCh38: Chr3:48862580	SLC25A20	R166Q	Carnitine acylcarnitine translocase deficiency	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 218875211.	NM_000387.6(SLC25A20):c.327-7A>G GRCh37: Chr3:48916888 GRCh38: Chr3:48879455	SLC25A20		Carnitine acylcarnitine translocase deficiency	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 218004612.	NM_000387.6(SLC25A20):c.669C>T (p.Asn223=) GRCh37: Chr3:48896574 GRCh38: Chr3:48859141	SLC25A20		Carnitine acylcarnitine translocase deficiency	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 217910113.	NM_000387.6(SLC25A20):c.591C>T (p.Phe197=) GRCh37: Chr3:48897005 GRCh38: Chr3:48859572	SLC25A20		Carnitine acylcarnitine translocase deficiency	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 217368814.	NM_000387.6(SLC25A20):c.803G>C (p.Gly268Ala) GRCh37: Chr3:48895980 GRCh38: Chr3:48858547	SLC25A20	G268A	Carnitine acylcarnitine translocase deficiency	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 214749515.	NM_000387.6(SLC25A20):c.895C>G (p.Pro299Ala) GRCh37: Chr3:48895154 GRCh38: Chr3:48857721	SLC25A20	P299A	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 214695116.	NM_000387.6(SLC25A20):c.536-10C>T GRCh37: Chr3:48897070 GRCh38: Chr3:48859637	SLC25A20		Carnitine acylcarnitine translocase deficiency	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 214077617.	NM_000387.6(SLC25A20):c.619C>T (p.Leu207Phe) GRCh37: Chr3:48896624 GRCh38: Chr3:48859191	SLC25A20	L207F	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 213696518.	NM_000387.6(SLC25A20):c.131G>A (p.Ser44Asn) GRCh37: Chr3:48929480 GRCh38: Chr3:48892047	SLC25A20	S44N	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 213319619.	NM_000387.6(SLC25A20):c.645dup (p.Gly216fs) GRCh37: Chr3:48896597-48896598 GRCh38: Chr3:48859164-48859165	SLC25A20	G216fs	Carnitine acylcarnitine translocase deficiency	Pathogenic (May 3, 2022)	criteria provided, single submitter
Select item 209098720.	NM_000387.6(SLC25A20):c.27C>T (p.Ser9=) GRCh37: Chr3:48936201 GRCh38: Chr3:48898768	SLC25A20		Carnitine acylcarnitine translocase deficiency	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 207652421.	NM_000387.6(SLC25A20):c.719-18T>C GRCh37: Chr3:48896082 GRCh38: Chr3:48858649	SLC25A20		Carnitine acylcarnitine translocase deficiency	Likely benign (Jun 16, 2022)	criteria provided, single submitter
Select item 206661722.	NM_000387.6(SLC25A20):c.854T>G (p.Leu285Arg) GRCh37: Chr3:48895195 GRCh38: Chr3:48857762	SLC25A20	L285R	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 206401923.	NM_000387.6(SLC25A20):c.306A>G (p.Lys102=) GRCh37: Chr3:48921450 GRCh38: Chr3:48884017	SLC25A20		Carnitine acylcarnitine translocase deficiency	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 204813324.	NM_000387.6(SLC25A20):c.832C>T (p.Pro278Ser) GRCh37: Chr3:48895951 GRCh38: Chr3:48858518	SLC25A20	P278S	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 204797325.	NM_000387.6(SLC25A20):c.772C>T (p.Arg258Trp) GRCh37: Chr3:48896011 GRCh38: Chr3:48858578	SLC25A20	R258W	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 203154926.	NM_000387.6(SLC25A20):c.106-2A>G GRCh37: Chr3:48929507 GRCh38: Chr3:48892074	SLC25A20		Carnitine acylcarnitine translocase deficiency	Pathogenic (Sep 21, 2022)	criteria provided, single submitter
Select item 202322427.	NM_000387.6(SLC25A20):c.647G>T (p.Gly216Val) GRCh37: Chr3:48896596 GRCh38: Chr3:48859163	SLC25A20	G216V	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 202188128.	NM_000387.6(SLC25A20):c.198+4G>A GRCh37: Chr3:48929409 GRCh38: Chr3:48891976	SLC25A20		Carnitine acylcarnitine translocase deficiency	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 202181929.	NM_000387.6(SLC25A20):c.139_147del (p.Gly47_Pro49del) GRCh37: Chr3:48929464-48929472 GRCh38: Chr3:48892031-48892039	SLC25A20		Carnitine acylcarnitine translocase deficiency	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 199060230.	NM_000387.6(SLC25A20):c.611T>C (p.Val204Ala) GRCh37: Chr3:48896632 GRCh38: Chr3:48859199	SLC25A20	V204A	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 197625531.	NM_000387.6(SLC25A20):c.535+13G>A GRCh37: Chr3:48899962 GRCh38: Chr3:48862529	SLC25A20		Carnitine acylcarnitine translocase deficiency	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 197430032.	NM_000387.6(SLC25A20):c.106-20A>G GRCh37: Chr3:48929525 GRCh38: Chr3:48892092	SLC25A20		Carnitine acylcarnitine translocase deficiency	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 197052233.	NM_000387.6(SLC25A20):c.868G>A (p.Ala290Thr) GRCh37: Chr3:48895181 GRCh38: Chr3:48857748	SLC25A20	A290T	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 195821134.	NM_000387.6(SLC25A20):c.812C>T (p.Ala271Val) GRCh37: Chr3:48895971 GRCh38: Chr3:48858538	SLC25A20	A271V	Carnitine acylcarnitine translocase deficiency	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 195703335.	NM_000387.6(SLC25A20):c.542C>A (p.Pro181Gln) GRCh37: Chr3:48897054 GRCh38: Chr3:48859621	SLC25A20	P181Q	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 195228236.	NM_000387.6(SLC25A20):c.514A>G (p.Thr172Ala) GRCh37: Chr3:48899996 GRCh38: Chr3:48862563	SLC25A20	T172A	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 193150437.	NM_000387.6(SLC25A20):c.73G>A (p.Val25Met) GRCh37: Chr3:48936155 GRCh38: Chr3:48898722	SLC25A20	V25M	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 193108438.	NM_000387.6(SLC25A20):c.487T>C (p.Phe163Leu) GRCh37: Chr3:48900023 GRCh38: Chr3:48862590	SLC25A20	F163L	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 193059339.	NM_000387.6(SLC25A20):c.198+13T>C GRCh37: Chr3:48929400 GRCh38: Chr3:48891967	SLC25A20		Carnitine acylcarnitine translocase deficiency	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 192164740.	NM_000387.6(SLC25A20):c.449C>T (p.Thr150Ile) GRCh37: Chr3:48900061 GRCh38: Chr3:48862628	SLC25A20	T150I	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 191985641.	NM_000387.6(SLC25A20):c.91C>T (p.Leu31=) GRCh37: Chr3:48936137 GRCh38: Chr3:48898704	SLC25A20		Carnitine acylcarnitine translocase deficiency	Likely benign (Jul 7, 2022)	criteria provided, single submitter
Select item 191651442.	NM_000387.6(SLC25A20):c.324C>T (p.Leu108=) GRCh37: Chr3:48921432 GRCh38: Chr3:48883999	SLC25A20		Carnitine acylcarnitine translocase deficiency	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 187833943.	NM_000387.6(SLC25A20):c.575G>A (p.Trp192Ter) GRCh37: Chr3:48897021 GRCh38: Chr3:48859588	SLC25A20	W192*	Carnitine acylcarnitine translocase deficiency	Likely pathogenic (Dec 19, 2022)	criteria provided, single submitter
Select item 172235044.	NM_000387.6(SLC25A20):c.823C>T (p.Arg275Ter) GRCh37: Chr3:48895960 GRCh38: Chr3:48858527	SLC25A20	R275*	Carnitine acylcarnitine translocase deficiency	Likely pathogenic (Sep 6, 2022)	criteria provided, single submitter
Select item 170449645.	NM_000387.6(SLC25A20):c.206C>T (p.Thr69Met) GRCh37: Chr3:48921550 GRCh38: Chr3:48884117	SLC25A20	T69M	not specified, Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169612946.	NM_000387.6(SLC25A20):c.625del (p.Ala209fs) GRCh37: Chr3:48896618 GRCh38: Chr3:48859185	SLC25A20	A209fs	Carnitine acylcarnitine translocase deficiency	Likely pathogenic (May 26, 2022)	criteria provided, single submitter
Select item 162847747.	NM_000387.6(SLC25A20):c.844-11T>C GRCh37: Chr3:48895216 GRCh38: Chr3:48857783	SLC25A20		Carnitine acylcarnitine translocase deficiency	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 162649048.	NM_000387.6(SLC25A20):c.198+11G>A GRCh37: Chr3:48929402 GRCh38: Chr3:48891969	SLC25A20		Carnitine acylcarnitine translocase deficiency	Likely benign (Jan 18, 2021)	criteria provided, single submitter
Select item 157508749.	NM_000387.6(SLC25A20):c.198+19G>A GRCh37: Chr3:48929394 GRCh38: Chr3:48891961	SLC25A20		Carnitine acylcarnitine translocase deficiency	Likely benign (Sep 20, 2021)	criteria provided, single submitter
Select item 155517350.	NM_000387.6(SLC25A20):c.844-6T>C GRCh37: Chr3:48895211 GRCh38: Chr3:48857778	SLC25A20		Carnitine acylcarnitine translocase deficiency	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 154598051.	NM_000387.6(SLC25A20):c.535+18C>T GRCh37: Chr3:48899957 GRCh38: Chr3:48862524	SLC25A20		Carnitine acylcarnitine translocase deficiency, not specified	Benign/Likely benign (Aug 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 154264352.	NM_000387.6(SLC25A20):c.195A>G (p.Arg65=) GRCh37: Chr3:48929416 GRCh38: Chr3:48891983	SLC25A20		Carnitine acylcarnitine translocase deficiency	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 150927053.	NM_000387.6(SLC25A20):c.105+14G>A GRCh37: Chr3:48936109 GRCh38: Chr3:48898676	SLC25A20		Carnitine acylcarnitine translocase deficiency	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 148494454.	NM_000387.6(SLC25A20):c.843+4A>G GRCh37: Chr3:48895936 GRCh38: Chr3:48858503	SLC25A20		Carnitine acylcarnitine translocase deficiency	Uncertain significance (May 31, 2021)	criteria provided, single submitter
Select item 147406555.	NM_000387.6(SLC25A20):c.906A>G (p.Ter302Trp) GRCh37: Chr3:48895143 GRCh38: Chr3:48857710	SLC25A20		Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 146486856.	NM_000387.6(SLC25A20):c.187C>G (p.Leu63Val) GRCh37: Chr3:48929424 GRCh38: Chr3:48891991	SLC25A20	L63V	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 146285757.	NM_000387.6(SLC25A20):c.508A>C (p.Lys170Gln) GRCh37: Chr3:48900002 GRCh38: Chr3:48862569	SLC25A20	K170Q	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 144512358.	NM_000387.6(SLC25A20):c.29C>T (p.Pro10Leu) GRCh37: Chr3:48936199 GRCh38: Chr3:48898766	SLC25A20	P10L	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 143271059.	NM_000387.6(SLC25A20):c.418-3C>A GRCh37: Chr3:48900095 GRCh38: Chr3:48862662	SLC25A20		Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 141203860.	NM_000387.6(SLC25A20):c.584A>G (p.Asn195Ser) GRCh37: Chr3:48897012 GRCh38: Chr3:48859579	SLC25A20	N195S	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 140784861.	NM_000387.6(SLC25A20):c.532C>G (p.Arg178Gly) GRCh37: Chr3:48899978 GRCh38: Chr3:48862545	SLC25A20	R178G	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 139523162.	NM_000387.6(SLC25A20):c.83G>A (p.Gly28Asp) GRCh37: Chr3:48936145 GRCh38: Chr3:48898712	SLC25A20	G28D	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Nov 27, 2021)	criteria provided, single submitter
Select item 138344563.	NM_000387.6(SLC25A20):c.70C>G (p.Leu24Val) GRCh37: Chr3:48936158 GRCh38: Chr3:48898725	SLC25A20	L24V	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 137764264.	NM_000387.6(SLC25A20):c.48del (p.Gly17fs) GRCh37: Chr3:48936180 GRCh38: Chr3:48898747	SLC25A20	G17fs	Carnitine acylcarnitine translocase deficiency	Pathogenic (Jun 5, 2022)	criteria provided, single submitter
Select item 134871965.	NM_000387.6(SLC25A20):c.533G>A (p.Arg178Gln) GRCh37: Chr3:48899977 GRCh38: Chr3:48862544	SLC25A20	R178Q	Carnitine acylcarnitine translocase deficiency	Likely pathogenic (Jul 27, 2022)	criteria provided, single submitter
Select item 130688766.	NM_000387.6(SLC25A20):c.763_764delinsAT (p.Glu255Met) GRCh37: Chr3:48896019-48896020 GRCh38: Chr3:48858586-48858587	SLC25A20	E255M	Carnitine acylcarnitine translocase deficiency, not provided	Uncertain significance (Apr 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130274067.	NM_000387.6(SLC25A20):c.82G>T (p.Gly28Cys) GRCh37: Chr3:48936146 GRCh38: Chr3:48898713	SLC25A20	G28C	not provided, Carnitine acylcarnitine translocase deficiency	Conflicting interpretations of pathogenicity (Jul 27, 2023)	criteria provided, conflicting interpretations
Select item 130132168.	NM_000387.6(SLC25A20):c.528del (p.Met177fs) GRCh37: Chr3:48899982 GRCh38: Chr3:48862549	SLC25A20	M177fs	Carnitine acylcarnitine translocase deficiency	Pathogenic (Sep 6, 2021)	criteria provided, single submitter
Select item 109771669.	NM_000387.6(SLC25A20):c.570T>C (p.Tyr190=) GRCh37: Chr3:48897026 GRCh38: Chr3:48859593	SLC25A20		Carnitine acylcarnitine translocase deficiency	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 106710570.	NM_000387.6(SLC25A20):c.105+1G>T GRCh37: Chr3:48936122 GRCh38: Chr3:48898689	SLC25A20		Carnitine acylcarnitine translocase deficiency	Likely pathogenic (Apr 21, 2020)	criteria provided, multiple submitters, no conflicts
Select item 105660271.	NM_000387.6(SLC25A20):c.262G>A (p.Val88Met) GRCh37: Chr3:48921494 GRCh38: Chr3:48884061	SLC25A20	V88M	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 103598772.	NM_000387.6(SLC25A20):c.682A>G (p.Ile228Val) GRCh37: Chr3:48896561 GRCh38: Chr3:48859128	SLC25A20	I228V	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Mar 19, 2020)	criteria provided, single submitter
Select item 100156873.	NM_000387.6(SLC25A20):c.721C>A (p.Pro241Thr) GRCh37: Chr3:48896062 GRCh38: Chr3:48858629	SLC25A20	P241T	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 96935974.	NM_000387.6(SLC25A20):c.160_163delinsTGGG (p.Gly54_Thr55delinsTrpAla) GRCh37: Chr3:48929448-48929451 GRCh38: Chr3:48892015-48892018	SLC25A20		Carnitine acylcarnitine translocase deficiency	Pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 96644375.	NM_000387.6(SLC25A20):c.327-6A>G GRCh37: Chr3:48916887 GRCh38: Chr3:48879454	SLC25A20		Inborn genetic diseases, not provided, Carnitine acylcarnitine translocase deficiency	Uncertain significance (Aug 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94953476.	NM_000387.6(SLC25A20):c.752A>G (p.Asp251Gly) GRCh37: Chr3:48896031 GRCh38: Chr3:48858598	SLC25A20	D251G	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 94017177.	NM_000387.6(SLC25A20):c.167T>C (p.Phe56Ser) GRCh37: Chr3:48929444 GRCh38: Chr3:48892011	SLC25A20	F56S	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 93612778.	NM_000387.6(SLC25A20):c.198+2T>C GRCh37: Chr3:48929411 GRCh38: Chr3:48891978	SLC25A20		Carnitine acylcarnitine translocase deficiency	Likely pathogenic (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93367479.	NM_000387.6(SLC25A20):c.364G>C (p.Val122Leu) GRCh37: Chr3:48916844 GRCh38: Chr3:48879411	SLC25A20	V122L	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 93218480.	NM_000387.6(SLC25A20):c.658G>A (p.Gly220Arg) GRCh37: Chr3:48896585 GRCh38: Chr3:48859152	SLC25A20	G220R	not specified, Carnitine acylcarnitine translocase deficiency	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 93218381.	NM_000387.6(SLC25A20):c.397C>T (p.Arg133Trp) GRCh37: Chr3:48916811 GRCh38: Chr3:48879378	SLC25A20	R133W	Carnitine acylcarnitine translocase deficiency	Likely pathogenic (Aug 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 90364282.	NM_000387.6(SLC25A20):c.824G>A (p.Arg275Gln) GRCh37: Chr3:48895959 GRCh38: Chr3:48858526	SLC25A20	R275Q	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90364183.	NM_000387.6(SLC25A20):c.894C>A (p.Thr298=) GRCh37: Chr3:48895155 GRCh38: Chr3:48857722	SLC25A20		Carnitine acylcarnitine translocase deficiency	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90364084.	NM_000387.6(SLC25A20):c.*211T>C GRCh37: Chr3:48894932 GRCh38: Chr3:48857499	SLC25A20		Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90363985.	NM_000387.6(SLC25A20):c.*235T>C GRCh37: Chr3:48894908 GRCh38: Chr3:48857475	SLC25A20		Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90363886.	NM_000387.6(SLC25A20):c.*311C>T GRCh37: Chr3:48894832 GRCh38: Chr3:48857399	SLC25A20		Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90169087.	NM_000387.6(SLC25A20):c.*371T>G GRCh37: Chr3:48894772 GRCh38: Chr3:48857339	SLC25A20		Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90168988.	NM_000387.6(SLC25A20):c.*710G>C GRCh37: Chr3:48894433 GRCh38: Chr3:48857000	SLC25A20		Carnitine acylcarnitine translocase deficiency	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90120689.	NM_000387.6(SLC25A20):c.28C>T (p.Pro10Ser) GRCh37: Chr3:48936200 GRCh38: Chr3:48898767	SLC25A20	P10S	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90004990.	NM_000387.6(SLC25A20):c.47C>T (p.Ala16Val) GRCh37: Chr3:48936181 GRCh38: Chr3:48898748	SLC25A20	A16V	not specified, Carnitine acylcarnitine translocase deficiency	Uncertain significance (Aug 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 90004891.	NM_000387.6(SLC25A20):c.179G>A (p.Arg60Gln) GRCh37: Chr3:48929432 GRCh38: Chr3:48891999	SLC25A20	R60Q	Inborn genetic diseases, Carnitine acylcarnitine translocase deficiency	Uncertain significance (Nov 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90004792.	NM_000387.6(SLC25A20):c.424G>A (p.Ala142Thr) GRCh37: Chr3:48900086 GRCh38: Chr3:48862653	SLC25A20	A142T	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90004693.	NM_000387.6(SLC25A20):c.719-10T>C GRCh37: Chr3:48896074 GRCh38: Chr3:48858641	SLC25A20		Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90004594.	NM_000387.6(SLC25A20):c.722C>T (p.Pro241Leu) GRCh37: Chr3:48896061 GRCh38: Chr3:48858628	SLC25A20	P241L	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90004495.	NM_000387.6(SLC25A20):c.761G>A (p.Arg254Lys) GRCh37: Chr3:48896022 GRCh38: Chr3:48858589	SLC25A20	R254K	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 86198296.	NM_000387.6(SLC25A20):c.364G>A (p.Val122Ile) GRCh37: Chr3:48916844 GRCh38: Chr3:48879411	SLC25A20	V122I	Carnitine acylcarnitine translocase deficiency, Inborn genetic diseases	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85359297.	NM_000387.6(SLC25A20):c.88C>T (p.Pro30Ser) GRCh37: Chr3:48936140 GRCh38: Chr3:48898707	SLC25A20	P30S	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 83006098.	NM_000387.6(SLC25A20):c.270del (p.Phe91fs) GRCh37: Chr3:48921486 GRCh38: Chr3:48884053	SLC25A20	F91fs	Carnitine acylcarnitine translocase deficiency	Pathogenic (Jan 13, 2020)	criteria provided, multiple submitters, no conflicts
Select item 68252299.	NM_000387.6(SLC25A20):c.608+12A>G GRCh37: Chr3:48896976 GRCh38: Chr3:48859543	SLC25A20		Carnitine acylcarnitine translocase deficiency, not provided	Likely benign (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 656680100.	NM_000387.6(SLC25A20):c.668A>G (p.Asn223Ser) GRCh37: Chr3:48896575 GRCh38: Chr3:48859142	SLC25A20	N223S	Carnitine acylcarnitine translocase deficiency	Uncertain significance (Nov 26, 2021)	criteria provided, single submitter

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