ClinVar for MedGen (Select 90999) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25064271.	NM_003060.4(SLC22A5):c.503G>C (p.Gly168Ala) GRCh37: Chr5:131719844 GRCh38: Chr5:132384152	SLC22A5	G192A	Renal carnitine transport defect	Likely pathogenic	criteria provided, single submitter
Select item 25011392.	NM_003060.4(SLC22A5):c.278C>A (p.Ser93Ter) GRCh37: Chr5:131705942 GRCh38: Chr5:132370250	SLC22A5	S93*	Renal carnitine transport defect	Likely pathogenic (Mar 19, 2023)	criteria provided, single submitter
Select item 24996723.	NM_003060.4(SLC22A5):c.821G>A (p.Trp274Ter) GRCh37: Chr5:131721188 GRCh38: Chr5:132385496	SLC22A5	W274, W298	Renal carnitine transport defect	Likely pathogenic	criteria provided, single submitter
Select item 24995814.	NM_003060.4(SLC22A5):c.1053-11C>G GRCh37: Chr5:131726371 GRCh38: Chr5:132390679	SLC22A5		Renal carnitine transport defect	Uncertain significance (Apr 20, 2023)	criteria provided, single submitter
Select item 24995805.	NM_003060.4(SLC22A5):c.1390G>A (p.Gly464Arg) GRCh37: Chr5:131728247 GRCh38: Chr5:132392555	SLC22A5	G464R, G488R	Renal carnitine transport defect	Uncertain significance (Apr 20, 2023)	criteria provided, single submitter
Select item 24246196.	NC_000005.9:g.(?_131705516)_(131729964_?)del GRCh37: Chr5:131705516-131729964	SLC22A5		Renal carnitine transport defect	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 24246187.	NC_000005.9:g.(?_131726362)_(131729964_?)dup GRCh37: Chr5:131726362-131729964	SLC22A5		Renal carnitine transport defect	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 24212938.	NM_003060.4(SLC22A5):c.1497C>G (p.Thr499=) GRCh37: Chr5:131729414 GRCh38: Chr5:132393722	SLC22A5		Renal carnitine transport defect	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 24200229.	NM_003060.4(SLC22A5):c.152G>A (p.Arg51Gln) GRCh37: Chr5:131705816 GRCh38: Chr5:132370124	SLC22A5	R51Q	Renal carnitine transport defect	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 241966310.	NM_003060.4(SLC22A5):c.1168G>A (p.Ala390Thr) GRCh37: Chr5:131726497 GRCh38: Chr5:132390805	SLC22A5	A390T, A414T	Renal carnitine transport defect	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 220340311.	NM_003060.4(SLC22A5):c.1006C>A (p.Arg336=) GRCh37: Chr5:131724667 GRCh38: Chr5:132388975	SLC22A5		Renal carnitine transport defect	Uncertain significance (Dec 19, 2021)	criteria provided, single submitter
Select item 220252112.	NM_003060.4(SLC22A5):c.952-17T>C GRCh37: Chr5:131724596 GRCh38: Chr5:132388904	SLC22A5		Renal carnitine transport defect	Likely benign (Aug 25, 2022)	criteria provided, single submitter
Select item 220214313.	NM_003060.4(SLC22A5):c.1073A>G (p.Tyr358Cys) GRCh37: Chr5:131726402 GRCh38: Chr5:132390710	SLC22A5	Y382C, Y358C	Renal carnitine transport defect	Pathogenic (Oct 4, 2022)	criteria provided, single submitter
Select item 220155814.	NM_003060.4(SLC22A5):c.733G>A (p.Val245Met) GRCh37: Chr5:131721100 GRCh38: Chr5:132385408	SLC22A5	V245M, V269M	Renal carnitine transport defect	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 219710715.	NM_003060.4(SLC22A5):c.1582A>C (p.Lys528Gln) GRCh37: Chr5:131729499 GRCh38: Chr5:132393807	SLC22A5	K552Q, K528Q	Renal carnitine transport defect	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 219656216.	NM_003060.4(SLC22A5):c.1055T>C (p.Met352Thr) GRCh37: Chr5:131726384 GRCh38: Chr5:132390692	SLC22A5	M352T, M376T	Renal carnitine transport defect	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 219586617.	NM_003060.4(SLC22A5):c.1361A>T (p.Tyr454Phe) GRCh37: Chr5:131728218 GRCh38: Chr5:132392526	SLC22A5	Y454F, Y478F	Renal carnitine transport defect	Uncertain significance (Dec 18, 2021)	criteria provided, single submitter
Select item 218839518.	NM_003060.4(SLC22A5):c.951+7A>C GRCh37: Chr5:131722850 GRCh38: Chr5:132387158	SLC22A5		Renal carnitine transport defect	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 218294819.	NM_003060.4(SLC22A5):c.243C>T (p.Cys81=) GRCh37: Chr5:131705907 GRCh38: Chr5:132370215	SLC22A5		Renal carnitine transport defect	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 217202920.	NM_003060.4(SLC22A5):c.1588A>G (p.Met530Val) GRCh37: Chr5:131729878 GRCh38: Chr5:132394186	SLC22A5	M530V, M554V	Renal carnitine transport defect	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 217193721.	NM_003060.4(SLC22A5):c.589G>T (p.Val197Phe) GRCh37: Chr5:131719930 GRCh38: Chr5:132384238	SLC22A5	V197F, V221F	Renal carnitine transport defect	Uncertain significance (Aug 2, 2021)	criteria provided, single submitter
Select item 217171122.	NM_003060.4(SLC22A5):c.342G>A (p.Leu114=) GRCh37: Chr5:131706006 GRCh38: Chr5:132370314	SLC22A5		Renal carnitine transport defect	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 216762423.	NM_003060.4(SLC22A5):c.79G>A (p.Ala27Thr) GRCh37: Chr5:131705743 GRCh38: Chr5:132370051	SLC22A5	A27T	Renal carnitine transport defect	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 216661424.	NM_003060.4(SLC22A5):c.1587-4A>G GRCh37: Chr5:131729873 GRCh38: Chr5:132394181	SLC22A5		Renal carnitine transport defect	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 216628025.	NM_003060.4(SLC22A5):c.802G>A (p.Val268Met) GRCh37: Chr5:131721169 GRCh38: Chr5:132385477	SLC22A5	V292M, V268M	Renal carnitine transport defect	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 216586826.	NM_003060.4(SLC22A5):c.840C>A (p.Ser280=) GRCh37: Chr5:131722732 GRCh38: Chr5:132387040	SLC22A5		Renal carnitine transport defect	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 216229627.	NM_003060.4(SLC22A5):c.1662C>T (p.Ser554=) GRCh37: Chr5:131729952 GRCh38: Chr5:132394260	SLC22A5		Renal carnitine transport defect	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 215824828.	NM_003060.4(SLC22A5):c.196A>G (p.Thr66Ala) GRCh37: Chr5:131705860 GRCh38: Chr5:132370168	SLC22A5	T66A	Renal carnitine transport defect	Uncertain significance (Dec 29, 2021)	criteria provided, single submitter
Select item 215755329.	NM_003060.4(SLC22A5):c.23C>T (p.Thr8Ile) GRCh37: Chr5:131705687 GRCh38: Chr5:132369995	SLC22A5	T8I	Renal carnitine transport defect	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 215726930.	NM_003060.4(SLC22A5):c.162C>T (p.Asp54=) GRCh37: Chr5:131705826 GRCh38: Chr5:132370134	SLC22A5		Renal carnitine transport defect	Likely benign (May 26, 2022)	criteria provided, single submitter
Select item 215679231.	NM_003060.4(SLC22A5):c.497+12G>A GRCh37: Chr5:131714185 GRCh38: Chr5:132378493	SLC22A5		Renal carnitine transport defect	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 215655832.	NM_003060.4(SLC22A5):c.1267+9C>T GRCh37: Chr5:131726605 GRCh38: Chr5:132390913	SLC22A5		Renal carnitine transport defect	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 215371733.	NM_003060.4(SLC22A5):c.285T>G (p.Leu95=) GRCh37: Chr5:131705949 GRCh38: Chr5:132370257	SLC22A5		Renal carnitine transport defect	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 215370234.	NM_003060.4(SLC22A5):c.1541G>A (p.Gly514Asp) GRCh37: Chr5:131729458 GRCh38: Chr5:132393766	SLC22A5	G538D, G514D	Renal carnitine transport defect	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 215352335.	NM_003060.4(SLC22A5):c.131C>G (p.Ala44Gly) GRCh37: Chr5:131705795 GRCh38: Chr5:132370103	SLC22A5	A44G	Renal carnitine transport defect	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 215350536.	NM_003060.4(SLC22A5):c.1286C>T (p.Thr429Ile) GRCh37: Chr5:131728143 GRCh38: Chr5:132392451	SLC22A5	T453I, T429I	Renal carnitine transport defect	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 215110737.	NM_003060.4(SLC22A5):c.1549C>T (p.Leu517Phe) GRCh37: Chr5:131729466 GRCh38: Chr5:132393774	SLC22A5	L541F, L517F	Inborn genetic diseases, Renal carnitine transport defect	Uncertain significance (Dec 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215075138.	NM_003060.4(SLC22A5):c.140A>T (p.Glu47Val) GRCh37: Chr5:131705804 GRCh38: Chr5:132370112	SLC22A5	E47V	Renal carnitine transport defect	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 215046339.	NM_003060.4(SLC22A5):c.1331C>G (p.Ser444Cys) GRCh37: Chr5:131728188 GRCh38: Chr5:132392496	SLC22A5	S444C, S468C	Renal carnitine transport defect	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 214856440.	NM_003060.4(SLC22A5):c.394-11T>G GRCh37: Chr5:131714059 GRCh38: Chr5:132378367	SLC22A5		Renal carnitine transport defect	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 214754541.	NM_003060.4(SLC22A5):c.641C>G (p.Ala214Gly) GRCh37: Chr5:131719982 GRCh38: Chr5:132384290	SLC22A5	A238G, A214G	Renal carnitine transport defect	Likely pathogenic (Sep 6, 2022)	criteria provided, single submitter
Select item 214687642.	NM_003060.4(SLC22A5):c.1303G>A (p.Gly435Ser) GRCh37: Chr5:131728160 GRCh38: Chr5:132392468	SLC22A5	G435S, G459S	Renal carnitine transport defect	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 214687043.	NM_003060.4(SLC22A5):c.1290C>T (p.Val430=) GRCh37: Chr5:131728147 GRCh38: Chr5:132392455	SLC22A5		Renal carnitine transport defect	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 214604744.	NM_003060.4(SLC22A5):c.845G>C (p.Arg282Pro) GRCh37: Chr5:131722737 GRCh38: Chr5:132387045	SLC22A5	R282P, R306P	Renal carnitine transport defect	Pathogenic (Jun 9, 2022)	criteria provided, single submitter
Select item 214457845.	NM_003060.4(SLC22A5):c.292G>A (p.Glu98Lys) GRCh37: Chr5:131705956 GRCh38: Chr5:132370264	SLC22A5	E98K	Renal carnitine transport defect	Uncertain significance (Oct 4, 2021)	criteria provided, single submitter
Select item 214443946.	NM_003060.4(SLC22A5):c.1296G>A (p.Val432=) GRCh37: Chr5:131728153 GRCh38: Chr5:132392461	SLC22A5		Renal carnitine transport defect	Likely benign (Jul 8, 2022)	criteria provided, single submitter
Select item 214201447.	NM_003060.4(SLC22A5):c.951+9C>T GRCh37: Chr5:131722852 GRCh38: Chr5:132387160	SLC22A5		Renal carnitine transport defect	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 213633248.	NM_003060.4(SLC22A5):c.497+1G>T GRCh37: Chr5:131714174 GRCh38: Chr5:132378482	SLC22A5		Renal carnitine transport defect	Pathogenic (Mar 12, 2022)	criteria provided, single submitter
Select item 213633149.	NM_003060.4(SLC22A5):c.350G>A (p.Trp117Ter) GRCh37: Chr5:131706014 GRCh38: Chr5:132370322	SLC22A5	W117*	Renal carnitine transport defect	Pathogenic (May 25, 2022)	criteria provided, single submitter
Select item 213327850.	NM_003060.4(SLC22A5):c.765C>T (p.Asp255=) GRCh37: Chr5:131721132 GRCh38: Chr5:132385440	SLC22A5		Renal carnitine transport defect	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 213026551.	NM_003060.4(SLC22A5):c.1053-13_1053-7del GRCh37: Chr5:131726365-131726371 GRCh38: Chr5:132390673-132390679	SLC22A5		Renal carnitine transport defect	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 212995152.	NM_003060.4(SLC22A5):c.1053-7G>T GRCh37: Chr5:131726375 GRCh38: Chr5:132390683	SLC22A5		Renal carnitine transport defect	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 212791553.	NM_003060.4(SLC22A5):c.141G>A (p.Glu47=) GRCh37: Chr5:131705805 GRCh38: Chr5:132370113	SLC22A5		Renal carnitine transport defect	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 212627054.	NM_003060.4(SLC22A5):c.653-7T>C GRCh37: Chr5:131721013 GRCh38: Chr5:132385321	SLC22A5		Renal carnitine transport defect	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 212617255.	NM_003060.4(SLC22A5):c.1554A>G (p.Pro518=) GRCh37: Chr5:131729471 GRCh38: Chr5:132393779	SLC22A5		Renal carnitine transport defect	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 212025956.	NM_003060.4(SLC22A5):c.1090del (p.Asp364fs) GRCh37: Chr5:131726419 GRCh38: Chr5:132390727	SLC22A5	D364fs, D388fs	Renal carnitine transport defect	Pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 211737757.	NM_003060.4(SLC22A5):c.4C>A (p.Arg2=) GRCh37: Chr5:131705668 GRCh38: Chr5:132369976	SLC22A5		Renal carnitine transport defect	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 211669658.	NM_003060.4(SLC22A5):c.286G>A (p.Gly96Arg) GRCh37: Chr5:131705950 GRCh38: Chr5:132370258	SLC22A5	G96R	Renal carnitine transport defect	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 211546459.	NM_003060.4(SLC22A5):c.1227G>T (p.Leu409=) GRCh37: Chr5:131726556 GRCh38: Chr5:132390864	SLC22A5		Renal carnitine transport defect	Likely benign (Mar 21, 2022)	criteria provided, single submitter
Select item 211369460.	NM_003060.4(SLC22A5):c.264C>T (p.Thr88=) GRCh37: Chr5:131705928 GRCh38: Chr5:132370236	SLC22A5		Renal carnitine transport defect	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 210653161.	NM_003060.4(SLC22A5):c.951+10A>G GRCh37: Chr5:131722853 GRCh38: Chr5:132387161	SLC22A5		Renal carnitine transport defect	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 210562262.	NM_003060.4(SLC22A5):c.1044A>G (p.Ile348Met) GRCh37: Chr5:131724705 GRCh38: Chr5:132389013	SLC22A5	I348M, I372M	Renal carnitine transport defect	Uncertain significance (Mar 2, 2022)	criteria provided, single submitter
Select item 210254163.	NM_003060.4(SLC22A5):c.1242T>C (p.Leu414=) GRCh37: Chr5:131726571 GRCh38: Chr5:132390879	SLC22A5		Renal carnitine transport defect	Likely benign (Mar 6, 2022)	criteria provided, single submitter
Select item 210078864.	NM_003060.4(SLC22A5):c.1451-18C>G GRCh37: Chr5:131729350 GRCh38: Chr5:132393658	SLC22A5		Renal carnitine transport defect	Likely benign (May 11, 2022)	criteria provided, single submitter
Select item 210001565.	NM_003060.4(SLC22A5):c.1586+6A>C GRCh37: Chr5:131729509 GRCh38: Chr5:132393817	SLC22A5		Renal carnitine transport defect	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 209743566.	NM_003060.4(SLC22A5):c.1158A>G (p.Ala386=) GRCh37: Chr5:131726487 GRCh38: Chr5:132390795	SLC22A5		Renal carnitine transport defect	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 208965867.	NM_003060.4(SLC22A5):c.719C>T (p.Ala240Val) GRCh37: Chr5:131721086 GRCh38: Chr5:132385394	SLC22A5	A240V, A264V	Renal carnitine transport defect	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 208802868.	NM_003060.4(SLC22A5):c.815C>T (p.Ala272Val) GRCh37: Chr5:131721182 GRCh38: Chr5:132385490	SLC22A5	A296V, A272V	Renal carnitine transport defect	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 208670869.	NM_003060.4(SLC22A5):c.865C>A (p.Arg289=) GRCh37: Chr5:131722757 GRCh38: Chr5:132387065	SLC22A5		Renal carnitine transport defect	Likely benign (Jan 22, 2022)	criteria provided, single submitter
Select item 207533670.	NM_003060.4(SLC22A5):c.1586+2T>G GRCh37: Chr5:131729505 GRCh38: Chr5:132393813	SLC22A5		Renal carnitine transport defect	Pathogenic (Jan 5, 2022)	criteria provided, single submitter
Select item 207395971.	NM_003060.4(SLC22A5):c.1205C>G (p.Ser402Cys) GRCh37: Chr5:131726534 GRCh38: Chr5:132390842	SLC22A5	S402C, S426C	Renal carnitine transport defect	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 207227872.	NM_003060.4(SLC22A5):c.384T>C (p.Ile128=) GRCh37: Chr5:131706048 GRCh38: Chr5:132370356	SLC22A5		Renal carnitine transport defect	Likely benign (Jan 3, 2022)	criteria provided, single submitter
Select item 207195273.	NM_003060.4(SLC22A5):c.1450+8C>G GRCh37: Chr5:131728315 GRCh38: Chr5:132392623	SLC22A5		Renal carnitine transport defect	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 206575874.	NM_003060.4(SLC22A5):c.215G>A (p.Arg72Gln) GRCh37: Chr5:131705879 GRCh38: Chr5:132370187	SLC22A5	R72Q	Renal carnitine transport defect	Uncertain significance (May 14, 2022)	criteria provided, single submitter
Select item 206335275.	NM_003060.4(SLC22A5):c.608T>C (p.Val203Ala) GRCh37: Chr5:131719949 GRCh38: Chr5:132384257	SLC22A5	V203A, V227A	Renal carnitine transport defect	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 205962476.	NM_003060.4(SLC22A5):c.602T>C (p.Val201Ala) GRCh37: Chr5:131719943 GRCh38: Chr5:132384251	SLC22A5	V201A, V225A	Renal carnitine transport defect	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 205873877.	NM_003060.4(SLC22A5):c.952-13G>A GRCh37: Chr5:131724600 GRCh38: Chr5:132388908	SLC22A5		Renal carnitine transport defect	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 205457478.	NM_003060.4(SLC22A5):c.131C>A (p.Ala44Glu) GRCh37: Chr5:131705795 GRCh38: Chr5:132370103	SLC22A5	A44E	Renal carnitine transport defect	Uncertain significance (May 14, 2022)	criteria provided, single submitter
Select item 205337579.	NM_003060.4(SLC22A5):c.1011C>T (p.Thr337=) GRCh37: Chr5:131724672 GRCh38: Chr5:132388980	SLC22A5		Renal carnitine transport defect	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 205170280.	NM_003060.4(SLC22A5):c.951+15G>C GRCh37: Chr5:131722858 GRCh38: Chr5:132387166	SLC22A5		Renal carnitine transport defect	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 205016981.	NM_003060.4(SLC22A5):c.1451-4A>G GRCh37: Chr5:131729364 GRCh38: Chr5:132393672	SLC22A5		Renal carnitine transport defect	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 204826682.	NM_003060.4(SLC22A5):c.1409C>A (p.Ser470Tyr) GRCh37: Chr5:131728266 GRCh38: Chr5:132392574	SLC22A5	S470Y, S494Y	Renal carnitine transport defect	Pathogenic (Dec 19, 2021)	criteria provided, single submitter
Select item 204531083.	NM_003060.4(SLC22A5):c.1614C>T (p.His538=) GRCh37: Chr5:131729904 GRCh38: Chr5:132394212	SLC22A5		Renal carnitine transport defect	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 204465784.	NM_003060.4(SLC22A5):c.453G>T (p.Val151=) GRCh37: Chr5:131714129 GRCh38: Chr5:132378437	SLC22A5		Renal carnitine transport defect	Likely benign (Dec 22, 2021)	criteria provided, single submitter
Select item 204369985.	NM_003060.4(SLC22A5):c.1392_1409del (p.Val465_Ser470del) GRCh37: Chr5:131728249-131728266 GRCh38: Chr5:132392557-132392574	SLC22A5		Renal carnitine transport defect	Pathogenic (Jun 1, 2022)	criteria provided, single submitter
Select item 204298886.	NM_003060.4(SLC22A5):c.245_246delinsTT (p.Arg82Leu) GRCh37: Chr5:131705909-131705910 GRCh38: Chr5:132370217-132370218	SLC22A5	R82L	Renal carnitine transport defect	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 203640287.	NM_003060.4(SLC22A5):c.393+15dup GRCh37: Chr5:131706068-131706069 GRCh38: Chr5:132370376-132370377	SLC22A5		Renal carnitine transport defect	Benign (Oct 21, 2022)	criteria provided, single submitter
Select item 203097788.	NM_003060.4(SLC22A5):c.528C>G (p.Thr176=) GRCh37: Chr5:131719869 GRCh38: Chr5:132384177	SLC22A5		Renal carnitine transport defect	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 202987489.	NM_003060.4(SLC22A5):c.636G>A (p.Val212=) GRCh37: Chr5:131719977 GRCh38: Chr5:132384285	SLC22A5		Renal carnitine transport defect	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 202388790.	NM_003060.4(SLC22A5):c.1663A>G (p.Thr555Ala) GRCh37: Chr5:131729953 GRCh38: Chr5:132394261	SLC22A5	T555A, T579A	Renal carnitine transport defect	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 202193191.	NM_003060.4(SLC22A5):c.804G>T (p.Val268=) GRCh37: Chr5:131721171 GRCh38: Chr5:132385479	SLC22A5		Renal carnitine transport defect	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 202135492.	NM_003060.4(SLC22A5):c.428del (p.Pro143fs) GRCh37: Chr5:131714101 GRCh38: Chr5:132378409	SLC22A5	P167fs, P143fs	Renal carnitine transport defect	Pathogenic (Aug 3, 2022)	criteria provided, single submitter
Select item 201827093.	NM_003060.4(SLC22A5):c.1140G>T (p.Ala380=) GRCh37: Chr5:131726469 GRCh38: Chr5:132390777	SLC22A5		Renal carnitine transport defect	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 201497894.	NM_003060.4(SLC22A5):c.1587-6T>C GRCh37: Chr5:131729871 GRCh38: Chr5:132394179	SLC22A5		Renal carnitine transport defect	Likely benign (Jul 8, 2022)	criteria provided, single submitter
Select item 201443995.	NM_003060.4(SLC22A5):c.1428G>A (p.Leu476=) GRCh37: Chr5:131728285 GRCh38: Chr5:132392593	SLC22A5		Renal carnitine transport defect	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 201243596.	NM_003060.4(SLC22A5):c.1642A>G (p.Arg548Gly) GRCh37: Chr5:131729932 GRCh38: Chr5:132394240	SLC22A5	R548G, R572G	Renal carnitine transport defect	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 200820597.	NM_003060.4(SLC22A5):c.1582A>T (p.Lys528Ter) GRCh37: Chr5:131729499 GRCh38: Chr5:132393807	SLC22A5	K528, K552	Renal carnitine transport defect	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 200760098.	NM_003060.4(SLC22A5):c.671A>T (p.Lys224Met) GRCh37: Chr5:131721038 GRCh38: Chr5:132385346	SLC22A5	K224M, K248M	Renal carnitine transport defect	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 200466599.	NM_003060.4(SLC22A5):c.912T>C (p.Asn304=) GRCh37: Chr5:131722804 GRCh38: Chr5:132387112	SLC22A5		Renal carnitine transport defect	Likely benign (Jun 11, 2022)	criteria provided, single submitter
Select item 2003829100.	NM_003060.4(SLC22A5):c.1150G>A (p.Val384Ile) GRCh37: Chr5:131726479 GRCh38: Chr5:132390787	SLC22A5	V408I, V384I	Renal carnitine transport defect	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter

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