Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_003060.4(SLC22A5):c.396G>A (p.Trp132Ter)	SNV Germline	Chr5:132378380	Pathogenic/Likely pathogenic	Renal carnitine transport defect Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA340577	rs_72552727	8 SubmittersRCV000006780 RCV004589498
NM_003060.4(SLC22A5):c.844C>T (p.Arg282Ter)	SNV Germline	Chr5:132387044	Pathogenic	Renal carnitine transport defect Condition: not provided SLC22A5-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA340580	rs_121908886	12 SubmittersRCV000006785 RCV000579046 RCV004754250
NM_003060.4(SLC22A5):c.1433C>T (p.Pro478Leu)	SNV Germline	Chr5:132392598	Pathogenic/Likely pathogenic	Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts	CA340584	rs_72552735	3 SubmittersRCV000006788
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys)	SNV Germline	Chr5:132384281	Pathogenic/Likely pathogenic	Renal carnitine transport defect Condition: not provided Decreased circulating carnitine concentration	Criteria Provided Multiple Submitters No Conflicts	CA312941	rs_121908888	9 SubmittersRCV000006789 RCV000186136 RCV002226443
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln)	SNV Germline	Chr5:132384155	Pathogenic	Renal carnitine transport defect Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA312938	rs_121908889	10 SubmittersRCV000006790 RCV000186134
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp)	SNV Germline	Chr5:132384154	Pathogenic/Likely pathogenic	Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts	CA340585	rs_121908890	9 SubmittersRCV000006791
NM_003060.4(SLC22A5):c.1051T>C (p.Trp351Arg)	SNV Germline	Chr5:132389020	Pathogenic	Renal carnitine transport defect	No Assertion Criteria Provided	CA340586	rs_68018207	1 SubmittersRCV000006792
NM_003060.4(SLC22A5):c.1196G>A (p.Arg399Gln)	SNV Germline	Chr5:132390833	Pathogenic	Renal carnitine transport defect Condition: not provided Decreased circulating carnitine concentration	Criteria Provided Multiple Submitters No Conflicts	CA340587	rs_121908891	8 SubmittersRCV000006793 RCV001532526 RCV002226444
NM_003060.4(SLC22A5):c.3G>T (p.Met1Ile)	SNV Germline	Chr5:132369975	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter	CA340588	rs_121908892	2 SubmittersRCV000006794
NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter)	SNV Germline	Chr5:132385435	Pathogenic	Renal carnitine transport defect Condition: not provided not specified	Criteria Provided Multiple Submitters No Conflicts	CA340590	rs_121908893	13 SubmittersRCV000006795 RCV000490002 RCV000506929
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp)	SNV Germline	Chr5:132390832	Pathogenic/Likely pathogenic	Renal carnitine transport defect Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA312953	rs_267607054	11 SubmittersRCV000006796 RCV000186144
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp)	SNV Germline	Chr5:132370015	Pathogenic/Likely pathogenic	Renal carnitine transport defect Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA312963	rs_267607052	12 SubmittersRCV000006798 RCV000186150
NM_003060.4(SLC22A5):c.-149G>A	SNV Germline	Chr5:132369824	Pathogenic	Renal carnitine transport defect Condition: not provided SLC22A5-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA342598	rs_57262206	12 SubmittersRCV000022286 RCV001268199 RCV003407353 RCV004955257
NM_003060.4(SLC22A5):c.12C>G (p.Tyr4Ter)	SNV Germline	Chr5:132369984	Pathogenic/Likely pathogenic	Renal carnitine transport defect SLC22A5-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA342604	rs_72552722	7 SubmittersRCV000022293 RCV003398556
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser)	SNV Germline	Chr5:132370006	Conflicting classifications of pathogenicity	Renal carnitine transport defect Condition: not provided not specified Decreased circulating carnitine concentration	Criteria Provided Conflicting Classifications	CA312960	rs_139203363	17 SubmittersRCV000022295 RCV000786404 RCV002298449 RCV004772831
NM_003060.4(SLC22A5):c.51C>G (p.Phe17Leu)	SNV Germline	Chr5:132370023	Pathogenic	Renal carnitine transport defect Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342607	rs_11568520	13 SubmittersRCV000022297 RCV000489029
NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro)	SNV Germline	Chr5:132370028	Conflicting classifications of pathogenicity	Renal carnitine transport defect Condition: not provided	Criteria Provided Conflicting Classifications	CA342608	rs_72552723	5 SubmittersRCV000022298 RCV000730713
NM_003060.4(SLC22A5):c.59T>A (p.Leu20His)	SNV Germline	Chr5:132370031	Conflicting classifications of pathogenicity	Renal carnitine transport defect Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA342609	rs_144020613	6 SubmittersRCV000022299 RCV000838010 RCV001194405
NM_003060.4(SLC22A5):c.83G>T (p.Ser28Ile)	SNV Germline	Chr5:132370055	Pathogenic	Renal carnitine transport defect Condition: not provided SLC22A5-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA342613	rs_72552724	5 SubmittersRCV000022301 RCV001549353 RCV004754274
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser)	SNV Germline	Chr5:132370067	Pathogenic	Renal carnitine transport defect Condition: not provided not specified	Criteria Provided Multiple Submitters No Conflicts	CA342615	rs_72552725	14 SubmittersRCV000022302 RCV000414281 RCV000506183
NM_003060.4(SLC22A5):c.136C>G (p.Pro46Ala)	SNV Germline	Chr5:132370108	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_202088921	1 SubmittersRCV003615732
NM_003060.4(SLC22A5):c.137C>T (p.Pro46Leu)	SNV Germline	Chr5:132370109	Conflicting classifications of pathogenicity	Renal carnitine transport defect Condition: not provided	Criteria Provided Conflicting Classifications	CA342618	rs_377767445	3 SubmittersRCV000022304 RCV000595593
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu)	SNV Germline	Chr5:132370220	Conflicting classifications of pathogenicity	Renal carnitine transport defect Condition: not provided Carnitine deficiency	Criteria Provided Conflicting Classifications	CA312935	rs_72552726	14 SubmittersRCV000022308 RCV000186132 RCV004798743
NM_003060.4(SLC22A5):c.287G>C (p.Gly96Ala)	SNV Germline	Chr5:132370259	Conflicting classifications of pathogenicity	Renal carnitine transport defect Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA312936	rs_377767450	7 SubmittersRCV000022311 RCV000859563 RCV001260361
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)	SNV Germline	Chr5:132370336	Conflicting classifications of pathogenicity	Renal carnitine transport defect Condition: not provided not specified Abnormality of the nervous system	Criteria Provided Conflicting Classifications	CA312977	rs_201082652	16 SubmittersRCV000022318 RCV000186160 RCV000613614 RCV001814008
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)	SNV Germline	Chr5:132378408	Conflicting classifications of pathogenicity	Renal carnitine transport defect Condition: not provided	Criteria Provided Conflicting Classifications	CA342631	rs_151231558	11 SubmittersRCV000022320 RCV000723414
NM_003060.4(SLC22A5):c.451G>A (p.Val151Met)	SNV Germline	Chr5:132378435	Conflicting classifications of pathogenicity	Renal carnitine transport defect Condition: not provided SLC22A5-related disorder	Criteria Provided Conflicting Classifications	CA342632	rs_386134193	6 SubmittersRCV000022322 RCV000727563 RCV003398557
NM_003060.4(SLC22A5):c.453G>A (p.Val151=)	SNV Germline	Chr5:132378437	Conflicting classifications of pathogenicity	Renal carnitine transport defect	Criteria Provided Conflicting Classifications	CA312933	rs_386134194	5 SubmittersRCV000022323
NM_003060.4(SLC22A5):c.414C>T (p.Asp138=)	SNV Germline	Chr5:132378398	Conflicting classifications of pathogenicity	Renal carnitine transport defect Condition: not provided	Criteria Provided Conflicting Classifications	CA342634	rs_150705788	6 SubmittersRCV000022325 RCV001711135
NM_003060.4(SLC22A5):c.652+1G>A	SNV Germline	Chr5:132384302	Pathogenic	Renal carnitine transport defect Decreased circulating carnitine concentration Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342640	rs_386134200	7 SubmittersRCV000022334 RCV002226445 RCV003329234
NM_003060.4(SLC22A5):c.653-2A>C	SNV Germline	Chr5:132385326	Pathogenic/Likely pathogenic	Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts	CA342642	rs_386134201	3 SubmittersRCV000022337
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met)	SNV Germline	Chr5:132385370	Pathogenic/Likely pathogenic	Renal carnitine transport defect Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342644	rs_114269482	15 SubmittersRCV000022339 RCV000438010
NM_003060.4(SLC22A5):c.725G>T (p.Gly242Val)	SNV Germline	Chr5:132385400	Conflicting classifications of pathogenicity	Renal carnitine transport defect	Criteria Provided Conflicting Classifications	CA342645	rs_72552728	4 SubmittersRCV000022340
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln)	SNV Germline	Chr5:132385436	Conflicting classifications of pathogenicity	Renal carnitine transport defect Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA342646	rs_200699819	13 SubmittersRCV000022342 RCV000725646 RCV002265567
NM_003060.4(SLC22A5):c.768G>A (p.Trp256Ter)	SNV Unknown	Chr5:132385443	Pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_386134202	1 SubmittersRCV004573606
NM_003060.4(SLC22A5):c.769C>T (p.Arg257Trp)	SNV Germline	Chr5:132385444	Conflicting classifications of pathogenicity	Renal carnitine transport defect	Criteria Provided Conflicting Classifications	CA312947	rs_386134203	5 SubmittersRCV000022344
NM_003060.4(SLC22A5):c.825G>A (p.Trp275Ter)	SNV Germline	Chr5:132387025	Pathogenic/Likely pathogenic	Renal carnitine transport defect Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342657	rs_386134207	4 SubmittersRCV000022350 RCV003229802
NM_003060.4(SLC22A5):c.839C>T (p.Ser280Phe)	SNV Germline	Chr5:132387039	Pathogenic/Likely pathogenic	Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts		rs_386134208	2 SubmittersRCV002035333
NM_003060.4(SLC22A5):c.845G>A (p.Arg282Gln)	SNV Germline	Chr5:132387045	Pathogenic	Renal carnitine transport defect Condition: not provided Inborn genetic diseases SLC22A5-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA342661	rs_386134210	11 SubmittersRCV000022354 RCV000413524 RCV003258656 RCV004754275
NM_003060.4(SLC22A5):c.847T>C (p.Trp283Arg)	SNV Germline	Chr5:132387047	Pathogenic/Likely pathogenic	Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts		rs_72552729	2 SubmittersRCV001924005
NM_003060.4(SLC22A5):c.849G>T (p.Trp283Cys)	SNV Germline	Chr5:132387049	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_386134211	1 SubmittersRCV003508832
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter)	SNV Germline	Chr5:132387065	Pathogenic	Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts	CA312948	rs_386134212	7 SubmittersRCV000022357
NM_003060.4(SLC22A5):c.902C>A (p.Ala301Asp)	SNV Germline	Chr5:132387102	Pathogenic	Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts		rs_72552730	2 SubmittersRCV001975156
NM_003060.4(SLC22A5):c.1043T>C (p.Ile348Thr)	SNV Germline	Chr5:132389012	Conflicting classifications of pathogenicity	Renal carnitine transport defect Condition: not provided	Criteria Provided Conflicting Classifications	CA342666	rs_150544263	9 SubmittersRCV000022361 RCV001552646
NM_003060.4(SLC22A5):c.1088T>C (p.Leu363Pro)	SNV Germline	Chr5:132390725	Conflicting classifications of pathogenicity	not specified Renal carnitine transport defect	Criteria Provided Conflicting Classifications	CA342668	rs_386134214	2 SubmittersRCV000506707 RCV003507248
NM_003060.4(SLC22A5):c.1161T>G (p.Tyr387Ter)	SNV Germline	Chr5:132390798	Pathogenic	Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts		rs_72552731	2 SubmittersRCV003472775
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu)	SNV Germline	Chr5:132390830	Pathogenic/Likely pathogenic	Renal carnitine transport defect Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342672	rs_144547521	11 SubmittersRCV000022365 RCV000224074
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met)	SNV Germline	Chr5:132392484	Pathogenic	Renal carnitine transport defect Condition: not provided Inborn genetic diseases Decreased circulating carnitine concentration SLC22A5-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA342675	rs_72552732	17 SubmittersRCV000022372 RCV000519322 RCV000622549 RCV002226446 RCV004754276
NM_003060.4(SLC22A5):c.1336G>T (p.Val446Phe)	SNV Germline	Chr5:132392501	Pathogenic/Likely pathogenic	Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts		rs_72552733	3 SubmittersRCV001924022
NM_003060.4(SLC22A5):c.1340A>G (p.Tyr447Cys)	SNV Germline	Chr5:132392505	Pathogenic/Likely pathogenic	Renal carnitine transport defect Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342677	rs_386134218	7 SubmittersRCV000022374 RCV000478826
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp)	SNV Germline	Chr5:132392510	Conflicting classifications of pathogenicity	Renal carnitine transport defect Condition: not provided See cases	Criteria Provided Conflicting Classifications	CA285513	rs_11568514	13 SubmittersRCV000022376 RCV000080049 RCV002251921
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys)	SNV Germline	Chr5:132392519	Conflicting classifications of pathogenicity	Renal carnitine transport defect Condition: not provided	Criteria Provided Conflicting Classifications	CA234953	rs_72552734	9 SubmittersRCV000022377 RCV000153964
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys)	SNV Germline	Chr5:132392565	Pathogenic/Likely pathogenic	Renal carnitine transport defect Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342681	rs_60376624	15 SubmittersRCV000022379 RCV000414447
NM_003060.4(SLC22A5):c.1403C>G (p.Thr468Arg)	SNV Germline	Chr5:132392568	Pathogenic/Likely pathogenic	Renal carnitine transport defect Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342682	rs_386134221	6 SubmittersRCV000022380 RCV001091583
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe)	SNV Germline	Chr5:132392574	Conflicting classifications of pathogenicity	Renal carnitine transport defect Condition: not provided	Criteria Provided Conflicting Classifications	CA342683	rs_386134222	9 SubmittersRCV000022381 RCV000513827
NM_003060.4(SLC22A5):c.1412G>A (p.Arg471His)	SNV Germline	Chr5:132392577	Pathogenic/Likely pathogenic	Renal carnitine transport defect Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342685	rs_386134223	7 SubmittersRCV000022382 RCV004700266
NM_003060.4(SLC22A5):c.1451-1G>A	SNV Germline	Chr5:132393675	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter	CA342689	rs_386134224	2 SubmittersRCV000022385
NM_003060.4(SLC22A5):c.1586+1G>T	SNV Germline	Chr5:132393812	Pathogenic	Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts		rs_386134226	2 SubmittersRCV002671958
NM_003060.4(SLC22A5):c.629A>G (p.Asn210Ser)	SNV Germline	Chr5:132384278	Pathogenic/Likely pathogenic	Renal carnitine transport defect Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342638	rs_386134198	6 SubmittersRCV000022330 RCV001564243
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val)	SNV Germline	Chr5:132384290	Conflicting classifications of pathogenicity	Renal carnitine transport defect Condition: not provided Decreased circulating carnitine concentration	Criteria Provided Conflicting Classifications	CA312942	rs_386134199	12 SubmittersRCV000022332 RCV000186137 RCV002226449
NM_003060.4(SLC22A5):c.557T>C (p.Leu186Pro)	SNV Germline	Chr5:132384206	Conflicting classifications of pathogenicity	Renal carnitine transport defect	Criteria Provided Conflicting Classifications	CA342637	rs_386134197	5 SubmittersRCV000022329
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)	SNV Germline	Chr5:132393688	Conflicting classifications of pathogenicity	Renal carnitine transport defect Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA090920	rs_28383481	18 SubmittersRCV000022386 RCV000426334 RCV000826038
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr)	SNV Germline	Chr5:132370310	Conflicting classifications of pathogenicity	Condition: not provided Renal carnitine transport defect Decreased circulating carnitine concentration	Criteria Provided Conflicting Classifications	CA234950	rs_727504159	8 SubmittersRCV000153959 RCV000411999 RCV002226458
NM_003060.4(SLC22A5):c.394-2A>C	SNV Germline	Chr5:132378376	Pathogenic	Condition: not provided Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts	CA346123	rs_377724489	2 SubmittersRCV000153961 RCV001850109
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)	SNV Germline	Chr5:132370108	Pathogenic/Likely pathogenic	Renal carnitine transport defect Condition: not provided See cases	Criteria Provided Multiple Submitters No Conflicts	CA312966	rs_202088921	25 SubmittersRCV000173299 RCV000186152 RCV004584363
NM_003060.4(SLC22A5):c.42G>A (p.Trp14Ter)	SNV Germline	Chr5:132370014	Pathogenic/Likely pathogenic	Condition: not provided Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts	CA312961	rs_796052036	3 SubmittersRCV000186149 RCV003474944
NM_003060.4(SLC22A5):c.419G>A (p.Trp140Ter)	SNV Germline	Chr5:132378403	Pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_796052039	1 SubmittersRCV001382067
NM_003060.4(SLC22A5):c.1053-2A>C	SNV Germline	Chr5:132390688	Pathogenic/Likely pathogenic	Condition: not provided not specified Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts	CA312952	rs_777004046	7 SubmittersRCV000186143 RCV000506945 RCV000984217
NM_003060.4(SLC22A5):c.1451G>T (p.Gly484Val)	SNV Germline	Chr5:132393676	Conflicting classifications of pathogenicity	Condition: not provided Renal carnitine transport defect High myopia not specified SLC22A5-related disorder	Criteria Provided Conflicting Classifications	CA312956	rs_28383480	12 SubmittersRCV000186146 RCV000549976 RCV000785735 RCV002307436 RCV004754341
NM_003060.4(SLC22A5):c.659A>T (p.Glu220Val)	SNV Germline	Chr5:132385334	Likely pathogenic	Renal carnitine transport defect	No Assertion Criteria Provided	CA10581560	rs_878853249	1 SubmittersRCV000225039
NM_003060.4(SLC22A5):c.395G>A (p.Trp132Ter)	SNV Germline	Chr5:132378379	Pathogenic	Condition: not provided Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts	CA10602951	rs_886041277	3 SubmittersRCV000376321 RCV001274463
NM_003060.4(SLC22A5):c.1085C>T (p.Ser362Leu)	SNV Germline	Chr5:132390722	Conflicting classifications of pathogenicity	Condition: not provided Renal carnitine transport defect Decreased circulating carnitine concentration Dilated cardiomyopathy 1A	Criteria Provided Conflicting Classifications	CA10603800	rs_886042092	7 SubmittersRCV000275675 RCV000635344 RCV002226461 RCV002261028
NM_003060.4(SLC22A5):c.523G>A (p.Val175Met)	SNV Germline	Chr5:132384172	Conflicting classifications of pathogenicity	not specified Renal carnitine transport defect Condition: not provided	Criteria Provided Conflicting Classifications	CA3403917	rs_781721860	6 SubmittersRCV000390290 RCV000555036 RCV000725701
NM_003060.4(SLC22A5):c.1621A>T (p.Met541Leu)	SNV Germline	Chr5:132394219	Conflicting classifications of pathogenicity	Condition: not provided Renal carnitine transport defect	Criteria Provided Conflicting Classifications	CA3404222	rs_758158685	3 SubmittersRCV000316258 RCV001859650
NM_003060.4(SLC22A5):c.1229G>A (p.Gly410Asp)	SNV Germline	Chr5:132390866	Conflicting classifications of pathogenicity	Condition: not provided Renal carnitine transport defect Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3404102	rs_200125400	6 SubmittersRCV000334950 RCV001086123 RCV004021261
NM_003060.4(SLC22A5):c.572A>G (p.Lys191Arg)	SNV Germline	Chr5:132384221	Conflicting classifications of pathogenicity	Condition: not provided Renal carnitine transport defect	Criteria Provided Conflicting Classifications	CA3403926	rs_200290813	5 SubmittersRCV000304455 RCV001081338
NM_003060.4(SLC22A5):c.1377A>G (p.Arg459=)	SNV Germline	Chr5:132392542	Conflicting classifications of pathogenicity	Renal carnitine transport defect not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3404144	rs_142264458	6 SubmittersRCV000333176 RCV000610118 RCV004597785
NM_003060.4(SLC22A5):c.1587-11T>G	SNV Germline	Chr5:132394174	Conflicting classifications of pathogenicity	Renal carnitine transport defect	Criteria Provided Conflicting Classifications	CA3404214	rs_772775759	4 SubmittersRCV000385514
NM_003060.4(SLC22A5):c.522C>T (p.Phe174=)	SNV Germline	Chr5:132384171	Conflicting classifications of pathogenicity	Renal carnitine transport defect	Criteria Provided Conflicting Classifications	CA3403916	rs_145350949	3 SubmittersRCV000406956
NM_003060.4(SLC22A5):c.952-14T>C	SNV Germline	Chr5:132388907	Conflicting classifications of pathogenicity	Renal carnitine transport defect	Criteria Provided Conflicting Classifications	CA3404033	rs_373018486	2 SubmittersRCV000365359
NM_003060.4(SLC22A5):c.393+1G>A	SNV Germline	Chr5:132370366	Pathogenic/Likely pathogenic	Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts	CA16040976	rs_1057517069	3 SubmittersRCV000409176
NM_003060.4(SLC22A5):c.394-1G>T	SNV Germline	Chr5:132378377	Pathogenic/Likely pathogenic	Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts	CA16040977	rs_1057517106	3 SubmittersRCV000410584
NM_003060.4(SLC22A5):c.491C>G (p.Ser164Ter)	SNV Unknown	Chr5:132378475	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter	CA16040978	rs_1057516765	1 SubmittersRCV000411083
NM_003060.4(SLC22A5):c.498-1G>C	SNV Germline	Chr5:132384146	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts	CA3403912	rs_747592919	2 SubmittersRCV000410615
NM_003060.4(SLC22A5):c.825-1G>C	SNV Germline	Chr5:132387024	Likely pathogenic	Renal carnitine transport defect Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16040979	rs_1057516805	6 SubmittersRCV000410776 RCV001700366
NM_003060.4(SLC22A5):c.1458C>G (p.Tyr486Ter)	SNV Germline	Chr5:132393683	Pathogenic/Likely pathogenic	Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts	CA16040981	rs_763224132	2 SubmittersRCV000410528
NM_003060.4(SLC22A5):c.1587-2A>G	SNV Unknown	Chr5:132394183	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts	CA16040983	rs_1057516402	2 SubmittersRCV000411687
NM_003060.4(SLC22A5):c.1587-1G>C	SNV Unknown	Chr5:132394184	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts	CA3404217	rs_766398620	2 SubmittersRCV000410688
NM_003060.4(SLC22A5):c.1252C>T (p.Gln418Ter)	SNV Germline	Chr5:132390889	Pathogenic	Condition: not provided Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts	CA16042574	rs_1057518297	6 SubmittersRCV000414129 RCV000541077
NM_003060.4(SLC22A5):c.1188T>G (p.Tyr396Ter)	SNV Germline	Chr5:132390825	Pathogenic	Renal carnitine transport defect	No Assertion Criteria Provided	CA16044014	rs_1057519051	1 SubmittersRCV000416283
NM_003060.4(SLC22A5):c.680G>A (p.Arg227His)	SNV Germline	Chr5:132385355	Pathogenic/Likely pathogenic	Condition: not provided Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts	CA3403949	rs_185551386	8 SubmittersRCV000427349 RCV000546517
NM_003060.4(SLC22A5):c.934A>G (p.Ile312Val)	SNV Germline	Chr5:132387134	Conflicting classifications of pathogenicity	Renal carnitine transport defect Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3404011	rs_77300588	9 SubmittersRCV000540060 RCV001311676 RCV003235209
NM_003060.4(SLC22A5):c.1053-3C>T	SNV Germline	Chr5:132390687	Conflicting classifications of pathogenicity	Renal carnitine transport defect Condition: not provided	Criteria Provided Conflicting Classifications	CA3404071	rs_149201271	3 SubmittersRCV001247194 RCV001720119
NM_003060.4(SLC22A5):c.1441G>A (p.Val481Ile)	SNV Germline	Chr5:132392606	Conflicting classifications of pathogenicity	Condition: not provided Renal carnitine transport defect SLC22A5-related disorder	Criteria Provided Conflicting Classifications	CA3404155	rs_11568513	9 SubmittersRCV000512974 RCV001002320 RCV003902502
NM_003060.4(SLC22A5):c.77G>A (p.Ser26Asn)	SNV Germline	Chr5:132370049	Conflicting classifications of pathogenicity	Condition: not provided Renal carnitine transport defect	Criteria Provided Conflicting Classifications	CA3403778	rs_772578415	5 SubmittersRCV000439652 RCV001237032
NM_003060.4(SLC22A5):c.852C>T (p.Leu284=)	SNV Germline	Chr5:132387052	Conflicting classifications of pathogenicity	Renal carnitine transport defect Condition: not provided	Criteria Provided Conflicting Classifications	CA3404001	rs_146185976	6 SubmittersRCV000526655 RCV001721417
NM_003060.4(SLC22A5):c.529A>G (p.Met177Val)	SNV Germline	Chr5:132384178	Conflicting classifications of pathogenicity	Condition: not provided Renal carnitine transport defect not specified	Criteria Provided Conflicting Classifications	CA3403918	rs_145068530	7 SubmittersRCV000434160 RCV000694962 RCV002469147
NM_003060.4(SLC22A5):c.202C>T (p.Pro68Ser)	SNV Germline	Chr5:132370174	Conflicting classifications of pathogenicity	Condition: not provided Renal carnitine transport defect	Criteria Provided Conflicting Classifications	CA16618115	rs_1045644394	3 SubmittersRCV000481536 RCV001067038
NM_003060.4(SLC22A5):c.842C>T (p.Pro281Leu)	SNV Germline	Chr5:132387042	Likely pathogenic	Condition: not provided Renal carnitine transport defect	Criteria Provided Single Submitter	CA16618116	rs_1064793269	2 SubmittersRCV000486229 RCV000984307
NM_003060.4(SLC22A5):c.1298T>C (p.Met433Thr)	SNV Germline	Chr5:132392463	Conflicting classifications of pathogenicity	Condition: not provided Renal carnitine transport defect	Criteria Provided Conflicting Classifications	CA3404128	rs_779385095	3 SubmittersRCV000489099 RCV001865516
NM_003060.4(SLC22A5):c.1052+5G>A	SNV Germline	Chr5:132389026	Conflicting classifications of pathogenicity	Condition: not provided Renal carnitine transport defect	Criteria Provided Conflicting Classifications	CA127211591	rs_927950152	3 SubmittersRCV000494312 RCV000671868
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu)	SNV Germline	Chr5:132378412	Conflicting classifications of pathogenicity	not specified Renal carnitine transport defect Condition: not provided	Criteria Provided Conflicting Classifications	CA360803554	rs_1178584184	11 SubmittersRCV000508023 RCV000673165 RCV005001070
NM_003060.4(SLC22A5):c.1411C>A (p.Arg471Ser)	SNV Germline	Chr5:132392576	Likely pathogenic	Condition: not provided Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts	CA360809214	rs_749282641	2 SubmittersRCV000513638 RCV001063048
NM_003060.4(SLC22A5):c.279G>C (p.Ser93=)	SNV Germline	Chr5:132370251	Conflicting classifications of pathogenicity	Renal carnitine transport defect Condition: not provided Decreased circulating carnitine concentration	Criteria Provided Conflicting Classifications	CA3403833	rs_377734902	7 SubmittersRCV000544973 RCV001697020 RCV002226471
NM_003060.4(SLC22A5):c.760C>A (p.Arg254=)	SNV Germline	Chr5:132385435	Conflicting classifications of pathogenicity	Renal carnitine transport defect	Criteria Provided Conflicting Classifications	CA3403960	rs_121908893	3 SubmittersRCV000533718
NM_003060.4(SLC22A5):c.818T>C (p.Leu273Pro)	SNV Germline	Chr5:132385493	Conflicting classifications of pathogenicity	Renal carnitine transport defect not specified	Criteria Provided Conflicting Classifications	CA3403981	rs_760320629	2 SubmittersRCV000537898 RCV004701620
NM_003060.4(SLC22A5):c.904A>G (p.Lys302Glu)	SNV Germline	Chr5:132387104	Conflicting classifications of pathogenicity	Renal carnitine transport defect Decreased circulating carnitine concentration SLC22A5-related disorder	Criteria Provided Conflicting Classifications	CA3404008	rs_75783492	6 SubmittersRCV000525201 RCV002226472 RCV003935418
NM_003060.4(SLC22A5):c.394-16T>A	SNV Germline	Chr5:132378362	Conflicting classifications of pathogenicity	Renal carnitine transport defect Condition: not provided	Criteria Provided Conflicting Classifications	CA3403879	rs_775097754	7 SubmittersRCV000558301 RCV001091582
NM_003060.4(SLC22A5):c.455G>A (p.Gly152Asp)	SNV Germline	Chr5:132378439	Pathogenic/Likely pathogenic	Renal carnitine transport defect Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA3403893	rs_747821417	5 SubmittersRCV000550851 RCV000623583
NM_003060.4(SLC22A5):c.605T>C (p.Leu202Pro)	SNV Germline	Chr5:132384254	Conflicting classifications of pathogenicity	Renal carnitine transport defect Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3403931	rs_142447950	7 SubmittersRCV000554108 RCV003480672 RCV004782429
NM_003060.4(SLC22A5):c.272A>G (p.Asn91Ser)	SNV Germline	Chr5:132370244	Conflicting classifications of pathogenicity	Renal carnitine transport defect Condition: not provided Decreased circulating carnitine concentration not specified	Criteria Provided Conflicting Classifications	CA3403831	rs_546442503	8 SubmittersRCV000530205 RCV001556640 RCV002226470 RCV004701619
NM_003060.4(SLC22A5):c.688T>C (p.Phe230Leu)	SNV Germline	Chr5:132385363	Pathogenic/Likely pathogenic	Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts	CA127209308	rs_756650860	3 SubmittersRCV000556789
NM_003060.4(SLC22A5):c.791C>G (p.Thr264Arg)	SNV Germline	Chr5:132385466	Pathogenic/Likely pathogenic	Renal carnitine transport defect Condition: not provided SLC22A5-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA3403970	rs_201262157	7 SubmittersRCV000526996 RCV001566993 RCV003900147
NM_003060.4(SLC22A5):c.1142T>C (p.Met381Thr)	SNV Germline	Chr5:132390779	Conflicting classifications of pathogenicity	Renal carnitine transport defect Decreased circulating carnitine concentration Condition: not provided	Criteria Provided Conflicting Classifications	CA3404091	rs_149730454	6 SubmittersRCV000552913 RCV001274337 RCV001509256
NM_003060.4(SLC22A5):c.1172G>A (p.Trp391Ter)	SNV Germline	Chr5:132390809	Pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter	CA360807677	rs_1554088165	1 SubmittersRCV000526345
NM_003060.4(SLC22A5):c.1380C>T (p.Asn460=)	SNV Germline	Chr5:132392545	Conflicting classifications of pathogenicity	Renal carnitine transport defect not specified Condition: not provided SLC22A5-related disorder	Criteria Provided Conflicting Classifications	CA3404145	rs_149521997	6 SubmittersRCV000551819 RCV000601890 RCV002060302 RCV003915519
NM_003060.4(SLC22A5):c.1579G>C (p.Val527Leu)	SNV Germline	Chr5:132393804	Conflicting classifications of pathogenicity	Renal carnitine transport defect Condition: not provided SLC22A5-related disorder	Criteria Provided Conflicting Classifications	CA3404201	rs_145792427	6 SubmittersRCV001001461 RCV001557968 RCV003942768
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys)	SNV Germline	Chr5:132394241	Conflicting classifications of pathogenicity	Renal carnitine transport defect Condition: not provided	Criteria Provided Conflicting Classifications	CA3404224	rs_150775371	9 SubmittersRCV000530403 RCV001509257
NM_003060.4(SLC22A5):c.1411C>T (p.Arg471Cys)	SNV Germline	Chr5:132392576	Pathogenic/Likely pathogenic	Renal carnitine transport defect Condition: not provided Decreased circulating carnitine concentration	Criteria Provided Multiple Submitters No Conflicts	CA3404150	rs_749282641	7 SubmittersRCV000535447 RCV001546222 RCV002226469
NM_003060.4(SLC22A5):c.1462C>T (p.Arg488Cys)	SNV Germline	Chr5:132393687	Pathogenic/Likely pathogenic	Renal carnitine transport defect Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3404179	rs_377216516	8 SubmittersRCV000528265 RCV000786403
NM_003060.4(SLC22A5):c.-26G>A	SNV Germline	Chr5:132369947	Conflicting classifications of pathogenicity	not specified Renal carnitine transport defect	Criteria Provided Conflicting Classifications	CA3403757	rs_369724970	3 SubmittersRCV000603099 RCV001157361
NM_003060.4(SLC22A5):c.614T>G (p.Met205Arg)	SNV Germline	Chr5:132384263	Likely pathogenic	Renal carnitine transport defect	No Assertion Criteria Provided	CA360804849	rs_796052033	1 SubmittersRCV000625694
NM_003060.4(SLC22A5):c.361C>T (p.Gln121Ter)	SNV Germline	Chr5:132370333	Pathogenic	Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts	CA360802901	rs_1554086010	2 SubmittersRCV000626063
NM_003060.4(SLC22A5):c.1113C>T (p.Asp371=)	SNV Germline	Chr5:132390750	Conflicting classifications of pathogenicity	Renal carnitine transport defect	Criteria Provided Conflicting Classifications	CA3404082	rs_200637508	3 SubmittersRCV000635356
NM_003060.4(SLC22A5):c.1296G>C (p.Val432=)	SNV Germline	Chr5:132392461	Conflicting classifications of pathogenicity	Renal carnitine transport defect Condition: not provided	Criteria Provided Conflicting Classifications	CA3404127	rs_755533900	3 SubmittersRCV000635355 RCV001771858
NM_003060.4(SLC22A5):c.1403C>A (p.Thr468Lys)	SNV Germline	Chr5:132392568	Conflicting classifications of pathogenicity	Renal carnitine transport defect Decreased circulating carnitine concentration	Criteria Provided Conflicting Classifications	CA3404149	rs_386134221	3 SubmittersRCV000635353 RCV002226477
NM_003060.4(SLC22A5):c.2T>G (p.Met1Arg)	SNV Unknown	Chr5:132369974	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_1554085885	1 SubmittersRCV000672799
NM_003060.4(SLC22A5):c.185G>A (p.Trp62Ter)	SNV Unknown	Chr5:132370157	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_1554085942	1 SubmittersRCV000674161
NM_003060.4(SLC22A5):c.1458C>A (p.Tyr486Ter)	SNV Unknown	Chr5:132393683	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts		rs_763224132	2 SubmittersRCV000667484
NM_003060.4(SLC22A5):c.391G>T (p.Glu131Ter)	SNV Unknown	Chr5:132370363	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_1321705165	1 SubmittersRCV000665409
NM_003060.4(SLC22A5):c.1052+1G>T	SNV Unknown	Chr5:132389022	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_1554087949	1 SubmittersRCV000665294
NM_003060.4(SLC22A5):c.1267+1G>A	SNV Unknown	Chr5:132390905	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_1554088200	1 SubmittersRCV000665060
NM_003060.4(SLC22A5):c.1A>T (p.Met1Leu)	SNV Unknown	Chr5:132369973	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_774971089	1 SubmittersRCV000670455
NM_003060.4(SLC22A5):c.252C>G (p.Tyr84Ter)	SNV Unknown	Chr5:132370224	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_1253026669	1 SubmittersRCV000669636
NM_003060.4(SLC22A5):c.952-2A>G	SNV Unknown	Chr5:132388919	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts		rs_1554087913	2 SubmittersRCV000666108
NM_003060.4(SLC22A5):c.1A>G (p.Met1Val)	SNV Unknown	Chr5:132369973	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_774971089	1 SubmittersRCV000669076
NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val)	SNV Germline	Chr5:132390776	Conflicting classifications of pathogenicity	Renal carnitine transport defect not specified SLC22A5-related disorder	Criteria Provided Conflicting Classifications		rs_746187344	5 SubmittersRCV000669110 RCV002282306 RCV004754525
NM_003060.4(SLC22A5):c.40T>A (p.Trp14Arg)	SNV Germline	Chr5:132370012	Pathogenic	Renal carnitine transport defect Decreased circulating carnitine concentration	Criteria Provided Single Submitter		rs_756863825	2 SubmittersRCV000703959 RCV002226488
NM_003060.4(SLC22A5):c.538C>G (p.Gln180Glu)	SNV Germline	Chr5:132384187	Conflicting classifications of pathogenicity	Renal carnitine transport defect Decreased circulating carnitine concentration	Criteria Provided Conflicting Classifications		rs_1437174685	5 SubmittersRCV000698844 RCV001274334
NM_003060.4(SLC22A5):c.131C>T (p.Ala44Val)	SNV Germline	Chr5:132370103	Conflicting classifications of pathogenicity	Renal carnitine transport defect Decreased circulating carnitine concentration Condition: not provided	Criteria Provided Conflicting Classifications		rs_199689597	7 SubmittersRCV000695244 RCV002226483 RCV002245598
NM_003060.4(SLC22A5):c.415G>A (p.Asp139Asn)	SNV Germline	Chr5:132378399	Conflicting classifications of pathogenicity	Renal carnitine transport defect Decreased circulating carnitine concentration	Criteria Provided Conflicting Classifications		rs_577131769	3 SubmittersRCV000704966 RCV001274333
NM_003060.4(SLC22A5):c.247C>T (p.Arg83Cys)	SNV Germline	Chr5:132370219	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_749499293	1 SubmittersRCV000701752
NM_003060.4(SLC22A5):c.394-141T>C	SNV Germline	Chr5:132378237	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_1561566541	1 SubmittersRCV000714865
NM_003060.4(SLC22A5):c.592G>T (p.Val198Leu)	SNV Germline	Chr5:132384241	Conflicting classifications of pathogenicity	Renal carnitine transport defect	Criteria Provided Conflicting Classifications		rs_757979350	2 SubmittersRCV000781949
NM_003060.4(SLC22A5):c.55C>A (p.Arg19Ser)	SNV Germline	Chr5:132370027	Conflicting classifications of pathogenicity	Renal carnitine transport defect	Criteria Provided Conflicting Classifications		rs_1319889867	2 SubmittersRCV000807350
NM_003060.4(SLC22A5):c.1072T>A (p.Tyr358Asn)	SNV Germline	Chr5:132390709	Pathogenic/Likely pathogenic	Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts		rs_61731073	3 SubmittersRCV000807405
NM_003060.4(SLC22A5):c.1364C>G (p.Pro455Arg)	SNV Germline	Chr5:132392529	Conflicting classifications of pathogenicity	Renal carnitine transport defect Condition: not provided	Criteria Provided Conflicting Classifications		rs_1408166345	5 SubmittersRCV000811626 RCV001570976
NM_003060.4(SLC22A5):c.1440C>T (p.Phe480=)	SNV Germline	Chr5:132392605	Conflicting classifications of pathogenicity	Renal carnitine transport defect Decreased circulating carnitine concentration	Criteria Provided Conflicting Classifications		rs_150457229	4 SubmittersRCV000872503 RCV002226501
NM_003060.4(SLC22A5):c.1313G>A (p.Gly438Glu)	SNV Germline	Chr5:132392478	Likely pathogenic	Renal carnitine transport defect	No Assertion Criteria Provided		rs_1580894230	1 SubmittersRCV000985078
NM_003060.4(SLC22A5):c.371A>G (p.Tyr124Cys)	SNV Germline	Chr5:132370343	Conflicting classifications of pathogenicity	Condition: not provided Renal carnitine transport defect Decreased circulating carnitine concentration not specified	Criteria Provided Conflicting Classifications		rs_762126547	6 SubmittersRCV000998437 RCV001051306 RCV002226506 RCV003987757
NM_003060.4(SLC22A5):c.728A>C (p.Tyr243Ser)	SNV Germline	Chr5:132385403	Conflicting classifications of pathogenicity	Condition: not provided Renal carnitine transport defect Decreased circulating carnitine concentration Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1321621475	5 SubmittersRCV003160220 RCV001036928 RCV002226508 RCV002552468
NM_003060.4(SLC22A5):c.797C>G (p.Pro266Arg)	SNV Germline	Chr5:132385472	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_538372785	1 SubmittersRCV001035191
NM_003060.4(SLC22A5):c.797C>T (p.Pro266Leu)	SNV Germline	Chr5:132385472	Conflicting classifications of pathogenicity	Renal carnitine transport defect Decreased circulating carnitine concentration	Criteria Provided Conflicting Classifications		rs_538372785	5 SubmittersRCV001050052 RCV002226512
NM_003060.4(SLC22A5):c.1521G>C (p.Leu507Phe)	SNV Germline	Chr5:132393746	Conflicting classifications of pathogenicity	Renal carnitine transport defect	Criteria Provided Conflicting Classifications		rs_778716973	3 SubmittersRCV001037880
NM_003060.4(SLC22A5):c.825-52G>A	SNV Germline	Chr5:132386973	Pathogenic	Renal carnitine transport defect Decreased circulating carnitine concentration	Criteria Provided Multiple Submitters No Conflicts		rs_1194929977	3 SubmittersRCV001045059 RCV002226510
NM_003060.4(SLC22A5):c.248G>C (p.Arg83Pro)	SNV Germline	Chr5:132370220	Conflicting classifications of pathogenicity	Condition: not provided Renal carnitine transport defect	Criteria Provided Conflicting Classifications		rs_72552726	2 SubmittersRCV001091581 RCV003615868
NM_003060.4(SLC22A5):c.470C>T (p.Ser157Phe)	SNV Germline	Chr5:132378454	Conflicting classifications of pathogenicity	Renal carnitine transport defect Decreased circulating carnitine concentration Condition: not provided	Criteria Provided Conflicting Classifications		rs_759925126	3 SubmittersRCV001219034 RCV002226520 RCV004792811
NM_003060.4(SLC22A5):c.506G>C (p.Arg169Pro)	SNV Germline	Chr5:132384155	Pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_121908889	1 SubmittersRCV001216413
NM_003060.4(SLC22A5):c.503G>A (p.Gly168Asp)	SNV Germline	Chr5:132384152	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_1752440697	1 SubmittersRCV001208797
NM_003060.4(SLC22A5):c.497+2T>A	SNV Germline	Chr5:132378483	Pathogenic/Likely pathogenic	Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts		rs_1752229268	2 SubmittersRCV001206442
NM_003060.4(SLC22A5):c.824+1G>A	SNV Germline	Chr5:132385500	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_1417000465	1 SubmittersRCV001214256
NM_003060.4(SLC22A5):c.1412G>T (p.Arg471Leu)	SNV Germline	Chr5:132392577	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts		rs_386134223	2 SubmittersRCV001229241
NM_003060.4(SLC22A5):c.844C>G (p.Arg282Gly)	SNV Germline	Chr5:132387044	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_121908886	1 SubmittersRCV001242928
NM_003060.4(SLC22A5):c.1006C>T (p.Arg336Ter)	SNV Germline	Chr5:132388975	Pathogenic/Likely pathogenic	Renal carnitine transport defect Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_754008420	5 SubmittersRCV001246766 RCV002512148
NM_003060.4(SLC22A5):c.394-2A>T	SNV Germline	Chr5:132378376	Pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_377724489	1 SubmittersRCV001235654
NM_003060.4(SLC22A5):c.1053-6T>C	SNV Germline	Chr5:132390684	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_1752665099	1 SubmittersRCV001230577
NM_003060.4(SLC22A5):c.113C>A (p.Ser38Tyr)	SNV Germline	Chr5:132370085	Pathogenic	Renal carnitine transport defect Decreased circulating carnitine concentration	Criteria Provided Single Submitter		rs_369354736	2 SubmittersRCV001346970 RCV002226543
NM_003060.4(SLC22A5):c.55C>T (p.Arg19Cys)	SNV Germline	Chr5:132370027	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_1319889867	1 SubmittersRCV001364335
NM_003060.4(SLC22A5):c.44G>A (p.Gly15Glu)	SNV Germline	Chr5:132370016	Conflicting classifications of pathogenicity	Renal carnitine transport defect	Criteria Provided Conflicting Classifications		rs_751129547	2 SubmittersRCV001376870
NM_003060.4(SLC22A5):c.839C>A (p.Ser280Tyr)	SNV Germline	Chr5:132387039	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_386134208	1 SubmittersRCV001379000
NM_003060.4(SLC22A5):c.2T>C (p.Met1Thr)	SNV Germline	Chr5:132369974	Pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_1554085885	1 SubmittersRCV001383928
NM_003060.4(SLC22A5):c.37G>T (p.Glu13Ter)	SNV Germline	Chr5:132370009	Pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_553647459	1 SubmittersRCV001380634
NM_003060.4(SLC22A5):c.479C>A (p.Ser160Ter)	SNV Germline	Chr5:132378463	Pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_2126775809	1 SubmittersRCV001387403
NM_003060.4(SLC22A5):c.1347C>A (p.Tyr449Ter)	SNV Germline	Chr5:132392512	Pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_2126791445	1 SubmittersRCV001385167
NM_003060.4(SLC22A5):c.1520T>C (p.Leu507Ser)	SNV Germline	Chr5:132393745	Conflicting classifications of pathogenicity	Renal carnitine transport defect	Criteria Provided Conflicting Classifications		rs_1157198543	3 SubmittersRCV001380048
NM_003060.4(SLC22A5):c.1346A>G (p.Tyr449Cys)	SNV Germline	Chr5:132392511	Conflicting classifications of pathogenicity	Condition: not provided Renal carnitine transport defect	Criteria Provided Conflicting Classifications		rs_1183338050	4 SubmittersRCV001767712 RCV002286580
NM_003060.4(SLC22A5):c.1385G>A (p.Gly462Asp)	SNV Germline	Chr5:132392550	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts		rs_2126791535	2 SubmittersRCV001783755
NM_003060.4(SLC22A5):c.115T>G (p.Ser39Ala)	SNV Germline	Chr5:132370087	Conflicting classifications of pathogenicity	Renal carnitine transport defect Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_544332057	4 SubmittersRCV001866448 RCV003164065
NM_003060.4(SLC22A5):c.328C>T (p.Gln110Ter)	SNV Germline	Chr5:132370300	Pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_2126765527	1 SubmittersRCV001948087
NM_003060.4(SLC22A5):c.679C>T (p.Arg227Cys)	SNV Germline	Chr5:132385354	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts		rs_546902674	2 SubmittersRCV001975904
NM_003060.4(SLC22A5):c.1159T>C (p.Tyr387His)	SNV Germline	Chr5:132390796	Conflicting classifications of pathogenicity	Renal carnitine transport defect not specified	Criteria Provided Conflicting Classifications		rs_2126789736	2 SubmittersRCV002042412 RCV004690223
NM_003060.4(SLC22A5):c.901G>A (p.Ala301Thr)	SNV Germline	Chr5:132387101	Conflicting classifications of pathogenicity	Renal carnitine transport defect not specified	Criteria Provided Conflicting Classifications		rs_2126786122	2 SubmittersRCV002008404 RCV004587281
NM_003060.4(SLC22A5):c.197C>T (p.Thr66Ile)	SNV Germline	Chr5:132370169	Conflicting classifications of pathogenicity	Renal carnitine transport defect	Criteria Provided Conflicting Classifications		rs_1169005119	2 SubmittersRCV001944506
NM_003060.4(SLC22A5):c.694A>G (p.Thr232Ala)	SNV Germline	Chr5:132385369	Conflicting classifications of pathogenicity	Renal carnitine transport defect not specified	Criteria Provided Conflicting Classifications		rs_188698686	2 SubmittersRCV002003878 RCV003323969
NM_003060.4(SLC22A5):c.1446C>G (p.Tyr482Ter)	SNV Germline	Chr5:132392611	Pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_569268772	1 SubmittersRCV001940696
NM_003060.4(SLC22A5):c.859C>T (p.Gln287Ter)	SNV Germline	Chr5:132387059	Pathogenic/Likely pathogenic	Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts		rs_931801909	2 SubmittersRCV002035228
NM_003060.4(SLC22A5):c.680G>T (p.Arg227Leu)	SNV Germline	Chr5:132385355	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_185551386	1 SubmittersRCV002022086
NM_003060.4(SLC22A5):c.976C>T (p.Gln326Ter)	SNV Germline	Chr5:132388945	Pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_1047810495	1 SubmittersRCV001949739
NM_003060.4(SLC22A5):c.1412G>C (p.Arg471Pro)	SNV Germline	Chr5:132392577	Pathogenic/Likely pathogenic	Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts		rs_386134223	3 SubmittersRCV001951258
NM_003060.4(SLC22A5):c.1384G>A (p.Gly462Ser)	SNV Germline	Chr5:132392549	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_1193551446	1 SubmittersRCV002013934
NM_003060.4(SLC22A5):c.740C>G (p.Pro247Arg)	SNV Germline	Chr5:132385415	Pathogenic/Likely pathogenic	Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts		rs_2126783802	2 SubmittersRCV001956275
NM_003060.4(SLC22A5):c.92C>T (p.Pro31Leu)	SNV Germline	Chr5:132370064	Pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_2126764868	1 SubmittersRCV001949530
NM_003060.4(SLC22A5):c.835G>T (p.Glu279Ter)	SNV Germline	Chr5:132387035	Pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_2126785892	1 SubmittersRCV001959906
NM_003060.4(SLC22A5):c.94A>G (p.Asn32Asp)	SNV Germline	Chr5:132370066	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_727504158	1 SubmittersRCV002026651
NM_003060.4(SLC22A5):c.84C>A (p.Ser28Arg)	SNV Germline	Chr5:132370056	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_773693788	1 SubmittersRCV002005112
NM_003060.4(SLC22A5):c.1432C>T (p.Pro478Ser)	SNV Germline	Chr5:132392597	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter		rs_2126791630	1 SubmittersRCV002021618
NM_003060.4(SLC22A5):c.631T>C (p.Tyr211His)	SNV Germline	Chr5:132384280	Pathogenic/Likely pathogenic	Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts		rs_780314370	2 SubmittersRCV002246709
NM_003060.4(SLC22A5):c.575A>G (p.Asn192Ser)	SNV Germline	Chr5:132384224	Conflicting classifications of pathogenicity	Renal carnitine transport defect	Criteria Provided Conflicting Classifications			2 SubmittersRCV002286625
NM_003060.4(SLC22A5):c.902C>G (p.Ala301Gly)	SNV Germline	Chr5:132387102	Conflicting classifications of pathogenicity	Renal carnitine transport defect	Criteria Provided Conflicting Classifications			2 SubmittersRCV002286628
NM_003060.4(SLC22A5):c.685A>C (p.Ile229Leu)	SNV Germline	Chr5:132385360	Conflicting classifications of pathogenicity	Renal carnitine transport defect	Criteria Provided Conflicting Classifications			2 SubmittersRCV002286631
NM_003060.4(SLC22A5):c.1064C>T (p.Ser355Leu)	SNV Germline	Chr5:132390701	Conflicting classifications of pathogenicity	Renal carnitine transport defect	Criteria Provided Conflicting Classifications			3 SubmittersRCV002286640
NM_003060.4(SLC22A5):c.1138G>A (p.Ala380Thr)	SNV Germline	Chr5:132390775	Conflicting classifications of pathogenicity	Renal carnitine transport defect	Criteria Provided Conflicting Classifications			2 SubmittersRCV002286645
NM_003060.4(SLC22A5):c.679C>A (p.Arg227Ser)	SNV Germline	Chr5:132385354	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV002286650
NM_003060.4(SLC22A5):c.700G>C (p.Gly234Arg)	SNV Germline	Chr5:132385375	Conflicting classifications of pathogenicity	Renal carnitine transport defect	Criteria Provided Conflicting Classifications			3 SubmittersRCV002286657
NM_003060.4(SLC22A5):c.1147G>T (p.Glu383Ter)	SNV Unknown	Chr5:132390784	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV002307859
NM_003060.4(SLC22A5):c.350G>A (p.Trp117Ter)	SNV Germline	Chr5:132370322	Pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV003060012
NM_003060.4(SLC22A5):c.497+1G>T	SNV Germline	Chr5:132378482	Pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV003037120
NM_003060.4(SLC22A5):c.845G>C (p.Arg282Pro)	SNV Germline	Chr5:132387045	Pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV003074364
NM_003060.4(SLC22A5):c.641C>G (p.Ala214Gly)	SNV Germline	Chr5:132384290	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV003060949
NM_003060.4(SLC22A5):c.1073A>G (p.Tyr358Cys)	SNV Germline	Chr5:132390710	Conflicting classifications of pathogenicity	Renal carnitine transport defect not specified	Criteria Provided Conflicting Classifications			2 SubmittersRCV002664012 RCV004587445
NM_003060.4(SLC22A5):c.113C>G (p.Ser38Cys)	SNV Germline	Chr5:132370085	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV002597084
NM_003060.4(SLC22A5):c.308T>G (p.Val103Gly)	SNV Germline	Chr5:132370280	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV002594451
NM_003060.4(SLC22A5):c.1531G>C (p.Glu511Gln)	SNV Germline	Chr5:132393756	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV002675557
NM_003060.4(SLC22A5):c.427C>T (p.Pro143Ser)	SNV Germline	Chr5:132378411	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV002639794
NM_003060.4(SLC22A5):c.1399T>C (p.Ser467Pro)	SNV Germline	Chr5:132392564	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV002663548
NM_003060.4(SLC22A5):c.1299G>A (p.Met433Ile)	SNV Germline	Chr5:132392464	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV002790825
NM_003060.4(SLC22A5):c.1409C>A (p.Ser470Tyr)	SNV Germline	Chr5:132392574	Pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV002918662
NM_003060.4(SLC22A5):c.1586+2T>G	SNV Germline	Chr5:132393813	Pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV002967646
NM_003060.4(SLC22A5):c.719C>T (p.Ala240Val)	SNV Germline	Chr5:132385394	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV003003207
NM_003060.4(SLC22A5):c.821G>A (p.Trp274Ter)	SNV Germline	Chr5:132385496	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV003223597
NM_003060.4(SLC22A5):c.278C>A (p.Ser93Ter)	SNV Germline	Chr5:132370250	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV003226736
NM_003060.4(SLC22A5):c.503G>C (p.Gly168Ala)	SNV Germline	Chr5:132384152	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV003236601
NM_003060.4(SLC22A5):c.1451-2A>G	SNV Unknown	Chr5:132393674	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV003472777
NM_003060.4(SLC22A5):c.1450+1G>A	SNV Unknown	Chr5:132392616	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV003472780
NM_003060.4(SLC22A5):c.1014G>A (p.Trp338Ter)	SNV Unknown	Chr5:132388983	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV003472782
NM_003060.4(SLC22A5):c.824G>A (p.Trp275Ter)	SNV Unknown	Chr5:132385499	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV003472785
NM_003060.4(SLC22A5):c.394-2A>G	SNV Unknown	Chr5:132378376	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV003472787
NM_003060.4(SLC22A5):c.951+1G>A	SNV Unknown	Chr5:132387152	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV003472788
NM_003060.4(SLC22A5):c.824+1G>T	SNV Unknown	Chr5:132385500	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV003472790
NM_003060.4(SLC22A5):c.497+1G>A	SNV Germline	Chr5:132378482	Pathogenic/Likely pathogenic	Renal carnitine transport defect	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003472792
NM_003060.4(SLC22A5):c.1268-2A>G	SNV Unknown	Chr5:132392431	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV003472793
NM_003060.4(SLC22A5):c.1074T>G (p.Tyr358Ter)	SNV Unknown	Chr5:132390711	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV003472797
NM_003060.4(SLC22A5):c.679C>G (p.Arg227Gly)	SNV Germline	Chr5:132385354	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV003508676
NM_003060.4(SLC22A5):c.250T>A (p.Tyr84Asn)	SNV Germline	Chr5:132370222	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV003508831
NM_003060.4(SLC22A5):c.352G>T (p.Glu118Ter)	SNV Germline	Chr5:132370324	Pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV003507104
NM_003060.4(SLC22A5):c.34G>C (p.Gly12Arg)	SNV Germline	Chr5:132370006	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV003507836
NM_003060.4(SLC22A5):c.43G>A (p.Gly15Arg)	SNV Germline	Chr5:132370015	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV003616440
NM_003060.4(SLC22A5):c.620A>G (p.Gln207Arg)	SNV Germline	Chr5:132384269	Pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV003616417
NM_003060.4(SLC22A5):c.952-1G>T	SNV Germline	Chr5:132388920	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV003616833
NM_003060.4(SLC22A5):c.652+1G>T	SNV Germline	Chr5:132384302	Pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV003616776
NM_003060.4(SLC22A5):c.653-2A>G	SNV Germline	Chr5:132385326	Pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV003616798
NM_003060.4(SLC22A5):c.78C>G (p.Ser26Arg)	SNV Germline	Chr5:132370050	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV003617032
NM_003060.4(SLC22A5):c.1586+1G>A	SNV Germline	Chr5:132393812	Pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV003615676
NM_003060.4(SLC22A5):c.272A>C (p.Asn91Thr)	SNV Germline	Chr5:132370244	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV003615697
NM_003060.4(SLC22A5):c.292G>T (p.Glu98Ter)	SNV Unknown	Chr5:132370264	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV004573605
NM_003060.4(SLC22A5):c.1585G>T (p.Gly529Ter)	SNV Germline	Chr5:132393810	Likely pathogenic	Renal carnitine transport defect	Criteria Provided Single Submitter			1 SubmittersRCV004593580

NM_003060.4(SLC22A5):c.396G>A (p.Trp132Ter)

SNV
Germline

Chr5:132378380

Pathogenic/Likely pathogenic

Renal carnitine transport defect
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340577

rs_72552727

8 SubmittersRCV000006780 RCV004589498

NM_003060.4(SLC22A5):c.844C>T (p.Arg282Ter)

SNV
Germline

Chr5:132387044

Pathogenic

Renal carnitine transport defect
Condition: not provided
SLC22A5-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA340580

rs_121908886

12 SubmittersRCV000006785 RCV000579046 RCV004754250

NM_003060.4(SLC22A5):c.1433C>T (p.Pro478Leu)

SNV
Germline

Chr5:132392598

Pathogenic/Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

CA340584

rs_72552735

3 SubmittersRCV000006788

NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys)

SNV
Germline

Chr5:132384281

Pathogenic/Likely pathogenic

Renal carnitine transport defect
Condition: not provided
Decreased circulating carnitine concentration

Criteria Provided
Multiple Submitters
No Conflicts

CA312941

rs_121908888

9 SubmittersRCV000006789 RCV000186136 RCV002226443

NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln)

SNV
Germline

Chr5:132384155

Pathogenic

Renal carnitine transport defect
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA312938

rs_121908889

10 SubmittersRCV000006790 RCV000186134

NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp)

SNV
Germline

Chr5:132384154

Pathogenic/Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

CA340585

rs_121908890

9 SubmittersRCV000006791

NM_003060.4(SLC22A5):c.1051T>C (p.Trp351Arg)

SNV
Germline

Chr5:132389020

Pathogenic

Renal carnitine transport defect

No Assertion Criteria Provided

CA340586

rs_68018207

1 SubmittersRCV000006792

NM_003060.4(SLC22A5):c.1196G>A (p.Arg399Gln)

SNV
Germline

Chr5:132390833

Pathogenic

Renal carnitine transport defect
Condition: not provided
Decreased circulating carnitine concentration

Criteria Provided
Multiple Submitters
No Conflicts

CA340587

rs_121908891

8 SubmittersRCV000006793 RCV001532526 RCV002226444

NM_003060.4(SLC22A5):c.3G>T (p.Met1Ile)

SNV
Germline

Chr5:132369975

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

CA340588

rs_121908892

2 SubmittersRCV000006794

NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter)

SNV
Germline

Chr5:132385435

Pathogenic

Renal carnitine transport defect
Condition: not provided
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA340590

rs_121908893

13 SubmittersRCV000006795 RCV000490002 RCV000506929

NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp)

SNV
Germline

Chr5:132390832

Pathogenic/Likely pathogenic

Renal carnitine transport defect
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA312953

rs_267607054

11 SubmittersRCV000006796 RCV000186144

NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp)

SNV
Germline

Chr5:132370015

Pathogenic/Likely pathogenic

Renal carnitine transport defect
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA312963

rs_267607052

12 SubmittersRCV000006798 RCV000186150

NM_003060.4(SLC22A5):c.-149G>A

SNV
Germline

Chr5:132369824

Pathogenic

Renal carnitine transport defect
Condition: not provided
SLC22A5-related disorder
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA342598

rs_57262206

12 SubmittersRCV000022286 RCV001268199 RCV003407353 RCV004955257

NM_003060.4(SLC22A5):c.12C>G (p.Tyr4Ter)

SNV
Germline

Chr5:132369984

Pathogenic/Likely pathogenic

Renal carnitine transport defect
SLC22A5-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA342604

rs_72552722

7 SubmittersRCV000022293 RCV003398556

NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser)

SNV
Germline

Chr5:132370006

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Condition: not provided
not specified
Decreased circulating carnitine concentration

Criteria Provided
Conflicting Classifications

CA312960

rs_139203363

17 SubmittersRCV000022295 RCV000786404 RCV002298449 RCV004772831

NM_003060.4(SLC22A5):c.51C>G (p.Phe17Leu)

SNV
Germline

Chr5:132370023

Pathogenic

Renal carnitine transport defect
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342607

rs_11568520

13 SubmittersRCV000022297 RCV000489029

NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro)

SNV
Germline

Chr5:132370028

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Condition: not provided

Criteria Provided
Conflicting Classifications

CA342608

rs_72552723

5 SubmittersRCV000022298 RCV000730713

NM_003060.4(SLC22A5):c.59T>A (p.Leu20His)

SNV
Germline

Chr5:132370031

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA342609

rs_144020613

6 SubmittersRCV000022299 RCV000838010 RCV001194405

NM_003060.4(SLC22A5):c.83G>T (p.Ser28Ile)

SNV
Germline

Chr5:132370055

Pathogenic

Renal carnitine transport defect
Condition: not provided
SLC22A5-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA342613

rs_72552724

5 SubmittersRCV000022301 RCV001549353 RCV004754274

NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser)

SNV
Germline

Chr5:132370067

Pathogenic

Renal carnitine transport defect
Condition: not provided
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA342615

rs_72552725

14 SubmittersRCV000022302 RCV000414281 RCV000506183

NM_003060.4(SLC22A5):c.136C>G (p.Pro46Ala)

SNV
Germline

Chr5:132370108

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_202088921

1 SubmittersRCV003615732

NM_003060.4(SLC22A5):c.137C>T (p.Pro46Leu)

SNV
Germline

Chr5:132370109

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Condition: not provided

Criteria Provided
Conflicting Classifications

CA342618

rs_377767445

3 SubmittersRCV000022304 RCV000595593

NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu)

SNV
Germline

Chr5:132370220

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Condition: not provided
Carnitine deficiency

Criteria Provided
Conflicting Classifications

CA312935

rs_72552726

14 SubmittersRCV000022308 RCV000186132 RCV004798743

NM_003060.4(SLC22A5):c.287G>C (p.Gly96Ala)

SNV
Germline

Chr5:132370259

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA312936

rs_377767450

7 SubmittersRCV000022311 RCV000859563 RCV001260361

NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)

SNV
Germline

Chr5:132370336

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Condition: not provided
not specified
Abnormality of the nervous system

Criteria Provided
Conflicting Classifications

CA312977

rs_201082652

16 SubmittersRCV000022318 RCV000186160 RCV000613614 RCV001814008

NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)

SNV
Germline

Chr5:132378408

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Condition: not provided

Criteria Provided
Conflicting Classifications

CA342631

rs_151231558

11 SubmittersRCV000022320 RCV000723414

NM_003060.4(SLC22A5):c.451G>A (p.Val151Met)

SNV
Germline

Chr5:132378435

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Condition: not provided
SLC22A5-related disorder

Criteria Provided
Conflicting Classifications

CA342632

rs_386134193

6 SubmittersRCV000022322 RCV000727563 RCV003398557

NM_003060.4(SLC22A5):c.453G>A (p.Val151=)

SNV
Germline

Chr5:132378437

Conflicting classifications of pathogenicity

Renal carnitine transport defect

Criteria Provided
Conflicting Classifications

CA312933

rs_386134194

5 SubmittersRCV000022323

NM_003060.4(SLC22A5):c.414C>T (p.Asp138=)

SNV
Germline

Chr5:132378398

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Condition: not provided

Criteria Provided
Conflicting Classifications

CA342634

rs_150705788

6 SubmittersRCV000022325 RCV001711135

NM_003060.4(SLC22A5):c.652+1G>A

SNV
Germline

Chr5:132384302

Pathogenic

Renal carnitine transport defect
Decreased circulating carnitine concentration
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342640

rs_386134200

7 SubmittersRCV000022334 RCV002226445 RCV003329234

NM_003060.4(SLC22A5):c.653-2A>C

SNV
Germline

Chr5:132385326

Pathogenic/Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

CA342642

rs_386134201

3 SubmittersRCV000022337

NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met)

SNV
Germline

Chr5:132385370

Pathogenic/Likely pathogenic

Renal carnitine transport defect
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342644

rs_114269482

15 SubmittersRCV000022339 RCV000438010

NM_003060.4(SLC22A5):c.725G>T (p.Gly242Val)

SNV
Germline

Chr5:132385400

Conflicting classifications of pathogenicity

Renal carnitine transport defect

Criteria Provided
Conflicting Classifications

CA342645

rs_72552728

4 SubmittersRCV000022340

NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln)

SNV
Germline

Chr5:132385436

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA342646

rs_200699819

13 SubmittersRCV000022342 RCV000725646 RCV002265567

NM_003060.4(SLC22A5):c.768G>A (p.Trp256Ter)

SNV
Unknown

Chr5:132385443

Pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_386134202

1 SubmittersRCV004573606

NM_003060.4(SLC22A5):c.769C>T (p.Arg257Trp)

SNV
Germline

Chr5:132385444

Conflicting classifications of pathogenicity

Renal carnitine transport defect

Criteria Provided
Conflicting Classifications

CA312947

rs_386134203

5 SubmittersRCV000022344

NM_003060.4(SLC22A5):c.825G>A (p.Trp275Ter)

SNV
Germline

Chr5:132387025

Pathogenic/Likely pathogenic

Renal carnitine transport defect
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342657

rs_386134207

4 SubmittersRCV000022350 RCV003229802

NM_003060.4(SLC22A5):c.839C>T (p.Ser280Phe)

SNV
Germline

Chr5:132387039

Pathogenic/Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

rs_386134208

2 SubmittersRCV002035333

NM_003060.4(SLC22A5):c.845G>A (p.Arg282Gln)

SNV
Germline

Chr5:132387045

Pathogenic

Renal carnitine transport defect
Condition: not provided
Inborn genetic diseases
SLC22A5-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA342661

rs_386134210

11 SubmittersRCV000022354 RCV000413524 RCV003258656 RCV004754275

NM_003060.4(SLC22A5):c.847T>C (p.Trp283Arg)

SNV
Germline

Chr5:132387047

Pathogenic/Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

rs_72552729

2 SubmittersRCV001924005

NM_003060.4(SLC22A5):c.849G>T (p.Trp283Cys)

SNV
Germline

Chr5:132387049

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_386134211

1 SubmittersRCV003508832

NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter)

SNV
Germline

Chr5:132387065

Pathogenic

Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

CA312948

rs_386134212

7 SubmittersRCV000022357

NM_003060.4(SLC22A5):c.902C>A (p.Ala301Asp)

SNV
Germline

Chr5:132387102

Pathogenic

Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

rs_72552730

2 SubmittersRCV001975156

NM_003060.4(SLC22A5):c.1043T>C (p.Ile348Thr)

SNV
Germline

Chr5:132389012

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Condition: not provided

Criteria Provided
Conflicting Classifications

CA342666

rs_150544263

9 SubmittersRCV000022361 RCV001552646

NM_003060.4(SLC22A5):c.1088T>C (p.Leu363Pro)

SNV
Germline

Chr5:132390725

Conflicting classifications of pathogenicity

not specified
Renal carnitine transport defect

Criteria Provided
Conflicting Classifications

CA342668

rs_386134214

2 SubmittersRCV000506707 RCV003507248

NM_003060.4(SLC22A5):c.1161T>G (p.Tyr387Ter)

SNV
Germline

Chr5:132390798

Pathogenic

Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

rs_72552731

2 SubmittersRCV003472775

NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu)

SNV
Germline

Chr5:132390830

Pathogenic/Likely pathogenic

Renal carnitine transport defect
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342672

rs_144547521

11 SubmittersRCV000022365 RCV000224074

NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met)

SNV
Germline

Chr5:132392484

Pathogenic

Renal carnitine transport defect
Condition: not provided
Inborn genetic diseases
Decreased circulating carnitine concentration
SLC22A5-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA342675

rs_72552732

17 SubmittersRCV000022372 RCV000519322 RCV000622549 RCV002226446 RCV004754276

NM_003060.4(SLC22A5):c.1336G>T (p.Val446Phe)

SNV
Germline

Chr5:132392501

Pathogenic/Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

rs_72552733

3 SubmittersRCV001924022

NM_003060.4(SLC22A5):c.1340A>G (p.Tyr447Cys)

SNV
Germline

Chr5:132392505

Pathogenic/Likely pathogenic

Renal carnitine transport defect
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342677

rs_386134218

7 SubmittersRCV000022374 RCV000478826

NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp)

SNV
Germline

Chr5:132392510

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Condition: not provided
See cases

Criteria Provided
Conflicting Classifications

CA285513

rs_11568514

13 SubmittersRCV000022376 RCV000080049 RCV002251921

NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys)

SNV
Germline

Chr5:132392519

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Condition: not provided

Criteria Provided
Conflicting Classifications

CA234953

rs_72552734

9 SubmittersRCV000022377 RCV000153964

NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys)

SNV
Germline

Chr5:132392565

Pathogenic/Likely pathogenic

Renal carnitine transport defect
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342681

rs_60376624

15 SubmittersRCV000022379 RCV000414447

NM_003060.4(SLC22A5):c.1403C>G (p.Thr468Arg)

SNV
Germline

Chr5:132392568

Pathogenic/Likely pathogenic

Renal carnitine transport defect
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342682

rs_386134221

6 SubmittersRCV000022380 RCV001091583

NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe)

SNV
Germline

Chr5:132392574

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Condition: not provided

Criteria Provided
Conflicting Classifications

CA342683

rs_386134222

9 SubmittersRCV000022381 RCV000513827

NM_003060.4(SLC22A5):c.1412G>A (p.Arg471His)

SNV
Germline

Chr5:132392577

Pathogenic/Likely pathogenic

Renal carnitine transport defect
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342685

rs_386134223

7 SubmittersRCV000022382 RCV004700266

NM_003060.4(SLC22A5):c.1451-1G>A

SNV
Germline

Chr5:132393675

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

CA342689

rs_386134224

2 SubmittersRCV000022385

NM_003060.4(SLC22A5):c.1586+1G>T

SNV
Germline

Chr5:132393812

Pathogenic

Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

rs_386134226

2 SubmittersRCV002671958

NM_003060.4(SLC22A5):c.629A>G (p.Asn210Ser)

SNV
Germline

Chr5:132384278

Pathogenic/Likely pathogenic

Renal carnitine transport defect
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342638

rs_386134198

6 SubmittersRCV000022330 RCV001564243

NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val)

SNV
Germline

Chr5:132384290

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Condition: not provided
Decreased circulating carnitine concentration

Criteria Provided
Conflicting Classifications

CA312942

rs_386134199

12 SubmittersRCV000022332 RCV000186137 RCV002226449

NM_003060.4(SLC22A5):c.557T>C (p.Leu186Pro)

SNV
Germline

Chr5:132384206

Conflicting classifications of pathogenicity

Renal carnitine transport defect

Criteria Provided
Conflicting Classifications

CA342637

rs_386134197

5 SubmittersRCV000022329

NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)

SNV
Germline

Chr5:132393688

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA090920

rs_28383481

18 SubmittersRCV000022386 RCV000426334 RCV000826038

NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr)

SNV
Germline

Chr5:132370310

Conflicting classifications of pathogenicity

Condition: not provided
Renal carnitine transport defect
Decreased circulating carnitine concentration

Criteria Provided
Conflicting Classifications

CA234950

rs_727504159

8 SubmittersRCV000153959 RCV000411999 RCV002226458

NM_003060.4(SLC22A5):c.394-2A>C

SNV
Germline

Chr5:132378376

Pathogenic

Condition: not provided
Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

CA346123

rs_377724489

2 SubmittersRCV000153961 RCV001850109

NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)

SNV
Germline

Chr5:132370108

Pathogenic/Likely pathogenic

Renal carnitine transport defect
Condition: not provided
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA312966

rs_202088921

25 SubmittersRCV000173299 RCV000186152 RCV004584363

NM_003060.4(SLC22A5):c.42G>A (p.Trp14Ter)

SNV
Germline

Chr5:132370014

Pathogenic/Likely pathogenic

Condition: not provided
Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

CA312961

rs_796052036

3 SubmittersRCV000186149 RCV003474944

NM_003060.4(SLC22A5):c.419G>A (p.Trp140Ter)

SNV
Germline

Chr5:132378403

Pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_796052039

1 SubmittersRCV001382067

NM_003060.4(SLC22A5):c.1053-2A>C

SNV
Germline

Chr5:132390688

Pathogenic/Likely pathogenic

Condition: not provided
not specified
Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

CA312952

rs_777004046

7 SubmittersRCV000186143 RCV000506945 RCV000984217

NM_003060.4(SLC22A5):c.1451G>T (p.Gly484Val)

SNV
Germline

Chr5:132393676

Conflicting classifications of pathogenicity

Condition: not provided
Renal carnitine transport defect
High myopia
not specified
SLC22A5-related disorder

Criteria Provided
Conflicting Classifications

CA312956

rs_28383480

12 SubmittersRCV000186146 RCV000549976 RCV000785735 RCV002307436 RCV004754341

NM_003060.4(SLC22A5):c.659A>T (p.Glu220Val)

SNV
Germline

Chr5:132385334

Likely pathogenic

Renal carnitine transport defect

No Assertion Criteria Provided

CA10581560

rs_878853249

1 SubmittersRCV000225039

NM_003060.4(SLC22A5):c.395G>A (p.Trp132Ter)

SNV
Germline

Chr5:132378379

Pathogenic

Condition: not provided
Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

CA10602951

rs_886041277

3 SubmittersRCV000376321 RCV001274463

NM_003060.4(SLC22A5):c.1085C>T (p.Ser362Leu)

SNV
Germline

Chr5:132390722

Conflicting classifications of pathogenicity

Condition: not provided
Renal carnitine transport defect
Decreased circulating carnitine concentration
Dilated cardiomyopathy 1A

Criteria Provided
Conflicting Classifications

CA10603800

rs_886042092

7 SubmittersRCV000275675 RCV000635344 RCV002226461 RCV002261028

NM_003060.4(SLC22A5):c.523G>A (p.Val175Met)

SNV
Germline

Chr5:132384172

Conflicting classifications of pathogenicity

not specified
Renal carnitine transport defect
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3403917

rs_781721860

6 SubmittersRCV000390290 RCV000555036 RCV000725701

NM_003060.4(SLC22A5):c.1621A>T (p.Met541Leu)

SNV
Germline

Chr5:132394219

Conflicting classifications of pathogenicity

Condition: not provided
Renal carnitine transport defect

Criteria Provided
Conflicting Classifications

CA3404222

rs_758158685

3 SubmittersRCV000316258 RCV001859650

NM_003060.4(SLC22A5):c.1229G>A (p.Gly410Asp)

SNV
Germline

Chr5:132390866

Conflicting classifications of pathogenicity

Condition: not provided
Renal carnitine transport defect
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3404102

rs_200125400

6 SubmittersRCV000334950 RCV001086123 RCV004021261

NM_003060.4(SLC22A5):c.572A>G (p.Lys191Arg)

SNV
Germline

Chr5:132384221

Conflicting classifications of pathogenicity

Condition: not provided
Renal carnitine transport defect

Criteria Provided
Conflicting Classifications

CA3403926

rs_200290813

5 SubmittersRCV000304455 RCV001081338

NM_003060.4(SLC22A5):c.1377A>G (p.Arg459=)

SNV
Germline

Chr5:132392542

Conflicting classifications of pathogenicity

Renal carnitine transport defect
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3404144

rs_142264458

6 SubmittersRCV000333176 RCV000610118 RCV004597785

NM_003060.4(SLC22A5):c.1587-11T>G

SNV
Germline

Chr5:132394174

Conflicting classifications of pathogenicity

Renal carnitine transport defect

Criteria Provided
Conflicting Classifications

CA3404214

rs_772775759

4 SubmittersRCV000385514

NM_003060.4(SLC22A5):c.522C>T (p.Phe174=)

SNV
Germline

Chr5:132384171

Conflicting classifications of pathogenicity

Renal carnitine transport defect

Criteria Provided
Conflicting Classifications

CA3403916

rs_145350949

3 SubmittersRCV000406956

NM_003060.4(SLC22A5):c.952-14T>C

SNV
Germline

Chr5:132388907

Conflicting classifications of pathogenicity

Renal carnitine transport defect

Criteria Provided
Conflicting Classifications

CA3404033

rs_373018486

2 SubmittersRCV000365359

NM_003060.4(SLC22A5):c.393+1G>A

SNV
Germline

Chr5:132370366

Pathogenic/Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

CA16040976

rs_1057517069

3 SubmittersRCV000409176

NM_003060.4(SLC22A5):c.394-1G>T

SNV
Germline

Chr5:132378377

Pathogenic/Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

CA16040977

rs_1057517106

3 SubmittersRCV000410584

NM_003060.4(SLC22A5):c.491C>G (p.Ser164Ter)

SNV
Unknown

Chr5:132378475

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

CA16040978

rs_1057516765

1 SubmittersRCV000411083

NM_003060.4(SLC22A5):c.498-1G>C

SNV
Germline

Chr5:132384146

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

CA3403912

rs_747592919

2 SubmittersRCV000410615

NM_003060.4(SLC22A5):c.825-1G>C

SNV
Germline

Chr5:132387024

Likely pathogenic

Renal carnitine transport defect
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16040979

rs_1057516805

6 SubmittersRCV000410776 RCV001700366

NM_003060.4(SLC22A5):c.1458C>G (p.Tyr486Ter)

SNV
Germline

Chr5:132393683

Pathogenic/Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

CA16040981

rs_763224132

2 SubmittersRCV000410528

NM_003060.4(SLC22A5):c.1587-2A>G

SNV
Unknown

Chr5:132394183

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

CA16040983

rs_1057516402

2 SubmittersRCV000411687

NM_003060.4(SLC22A5):c.1587-1G>C

SNV
Unknown

Chr5:132394184

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

CA3404217

rs_766398620

2 SubmittersRCV000410688

NM_003060.4(SLC22A5):c.1252C>T (p.Gln418Ter)

SNV
Germline

Chr5:132390889

Pathogenic

Condition: not provided
Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

CA16042574

rs_1057518297

6 SubmittersRCV000414129 RCV000541077

NM_003060.4(SLC22A5):c.1188T>G (p.Tyr396Ter)

SNV
Germline

Chr5:132390825

Pathogenic

Renal carnitine transport defect

No Assertion Criteria Provided

CA16044014

rs_1057519051

1 SubmittersRCV000416283

NM_003060.4(SLC22A5):c.680G>A (p.Arg227His)

SNV
Germline

Chr5:132385355

Pathogenic/Likely pathogenic

Condition: not provided
Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

CA3403949

rs_185551386

8 SubmittersRCV000427349 RCV000546517

NM_003060.4(SLC22A5):c.934A>G (p.Ile312Val)

SNV
Germline

Chr5:132387134

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3404011

rs_77300588

9 SubmittersRCV000540060 RCV001311676 RCV003235209

NM_003060.4(SLC22A5):c.1053-3C>T

SNV
Germline

Chr5:132390687

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3404071

rs_149201271

3 SubmittersRCV001247194 RCV001720119

NM_003060.4(SLC22A5):c.1441G>A (p.Val481Ile)

SNV
Germline

Chr5:132392606

Conflicting classifications of pathogenicity

Condition: not provided
Renal carnitine transport defect
SLC22A5-related disorder

Criteria Provided
Conflicting Classifications

CA3404155

rs_11568513

9 SubmittersRCV000512974 RCV001002320 RCV003902502

NM_003060.4(SLC22A5):c.77G>A (p.Ser26Asn)

SNV
Germline

Chr5:132370049

Conflicting classifications of pathogenicity

Condition: not provided
Renal carnitine transport defect

Criteria Provided
Conflicting Classifications

CA3403778

rs_772578415

5 SubmittersRCV000439652 RCV001237032

NM_003060.4(SLC22A5):c.852C>T (p.Leu284=)

SNV
Germline

Chr5:132387052

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3404001

rs_146185976

6 SubmittersRCV000526655 RCV001721417

NM_003060.4(SLC22A5):c.529A>G (p.Met177Val)

SNV
Germline

Chr5:132384178

Conflicting classifications of pathogenicity

Condition: not provided
Renal carnitine transport defect
not specified

Criteria Provided
Conflicting Classifications

CA3403918

rs_145068530

7 SubmittersRCV000434160 RCV000694962 RCV002469147

NM_003060.4(SLC22A5):c.202C>T (p.Pro68Ser)

SNV
Germline

Chr5:132370174

Conflicting classifications of pathogenicity

Condition: not provided
Renal carnitine transport defect

Criteria Provided
Conflicting Classifications

CA16618115

rs_1045644394

3 SubmittersRCV000481536 RCV001067038

NM_003060.4(SLC22A5):c.842C>T (p.Pro281Leu)

SNV
Germline

Chr5:132387042

Likely pathogenic

Condition: not provided
Renal carnitine transport defect

Criteria Provided
Single Submitter

CA16618116

rs_1064793269

2 SubmittersRCV000486229 RCV000984307

NM_003060.4(SLC22A5):c.1298T>C (p.Met433Thr)

SNV
Germline

Chr5:132392463

Conflicting classifications of pathogenicity

Condition: not provided
Renal carnitine transport defect

Criteria Provided
Conflicting Classifications

CA3404128

rs_779385095

3 SubmittersRCV000489099 RCV001865516

NM_003060.4(SLC22A5):c.1052+5G>A

SNV
Germline

Chr5:132389026

Conflicting classifications of pathogenicity

Condition: not provided
Renal carnitine transport defect

Criteria Provided
Conflicting Classifications

CA127211591

rs_927950152

3 SubmittersRCV000494312 RCV000671868

NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu)

SNV
Germline

Chr5:132378412

Conflicting classifications of pathogenicity

not specified
Renal carnitine transport defect
Condition: not provided

Criteria Provided
Conflicting Classifications

CA360803554

rs_1178584184

11 SubmittersRCV000508023 RCV000673165 RCV005001070

NM_003060.4(SLC22A5):c.1411C>A (p.Arg471Ser)

SNV
Germline

Chr5:132392576

Likely pathogenic

Condition: not provided
Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

CA360809214

rs_749282641

2 SubmittersRCV000513638 RCV001063048

NM_003060.4(SLC22A5):c.279G>C (p.Ser93=)

SNV
Germline

Chr5:132370251

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Condition: not provided
Decreased circulating carnitine concentration

Criteria Provided
Conflicting Classifications

CA3403833

rs_377734902

7 SubmittersRCV000544973 RCV001697020 RCV002226471

NM_003060.4(SLC22A5):c.760C>A (p.Arg254=)

SNV
Germline

Chr5:132385435

Conflicting classifications of pathogenicity

Renal carnitine transport defect

Criteria Provided
Conflicting Classifications

CA3403960

rs_121908893

3 SubmittersRCV000533718

NM_003060.4(SLC22A5):c.818T>C (p.Leu273Pro)

SNV
Germline

Chr5:132385493

Conflicting classifications of pathogenicity

Renal carnitine transport defect
not specified

Criteria Provided
Conflicting Classifications

CA3403981

rs_760320629

2 SubmittersRCV000537898 RCV004701620

NM_003060.4(SLC22A5):c.904A>G (p.Lys302Glu)

SNV
Germline

Chr5:132387104

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Decreased circulating carnitine concentration
SLC22A5-related disorder

Criteria Provided
Conflicting Classifications

CA3404008

rs_75783492

6 SubmittersRCV000525201 RCV002226472 RCV003935418

NM_003060.4(SLC22A5):c.394-16T>A

SNV
Germline

Chr5:132378362

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3403879

rs_775097754

7 SubmittersRCV000558301 RCV001091582

NM_003060.4(SLC22A5):c.455G>A (p.Gly152Asp)

SNV
Germline

Chr5:132378439

Pathogenic/Likely pathogenic

Renal carnitine transport defect
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA3403893

rs_747821417

5 SubmittersRCV000550851 RCV000623583

NM_003060.4(SLC22A5):c.605T>C (p.Leu202Pro)

SNV
Germline

Chr5:132384254

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3403931

rs_142447950

7 SubmittersRCV000554108 RCV003480672 RCV004782429

NM_003060.4(SLC22A5):c.272A>G (p.Asn91Ser)

SNV
Germline

Chr5:132370244

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Condition: not provided
Decreased circulating carnitine concentration
not specified

Criteria Provided
Conflicting Classifications

CA3403831

rs_546442503

8 SubmittersRCV000530205 RCV001556640 RCV002226470 RCV004701619

NM_003060.4(SLC22A5):c.688T>C (p.Phe230Leu)

SNV
Germline

Chr5:132385363

Pathogenic/Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

CA127209308

rs_756650860

3 SubmittersRCV000556789

NM_003060.4(SLC22A5):c.791C>G (p.Thr264Arg)

SNV
Germline

Chr5:132385466

Pathogenic/Likely pathogenic

Renal carnitine transport defect
Condition: not provided
SLC22A5-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA3403970

rs_201262157

7 SubmittersRCV000526996 RCV001566993 RCV003900147

NM_003060.4(SLC22A5):c.1142T>C (p.Met381Thr)

SNV
Germline

Chr5:132390779

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Decreased circulating carnitine concentration
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3404091

rs_149730454

6 SubmittersRCV000552913 RCV001274337 RCV001509256

NM_003060.4(SLC22A5):c.1172G>A (p.Trp391Ter)

SNV
Germline

Chr5:132390809

Pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

CA360807677

rs_1554088165

1 SubmittersRCV000526345

NM_003060.4(SLC22A5):c.1380C>T (p.Asn460=)

SNV
Germline

Chr5:132392545

Conflicting classifications of pathogenicity

Renal carnitine transport defect
not specified
Condition: not provided
SLC22A5-related disorder

Criteria Provided
Conflicting Classifications

CA3404145

rs_149521997

6 SubmittersRCV000551819 RCV000601890 RCV002060302 RCV003915519

NM_003060.4(SLC22A5):c.1579G>C (p.Val527Leu)

SNV
Germline

Chr5:132393804

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Condition: not provided
SLC22A5-related disorder

Criteria Provided
Conflicting Classifications

CA3404201

rs_145792427

6 SubmittersRCV001001461 RCV001557968 RCV003942768

NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys)

SNV
Germline

Chr5:132394241

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3404224

rs_150775371

9 SubmittersRCV000530403 RCV001509257

NM_003060.4(SLC22A5):c.1411C>T (p.Arg471Cys)

SNV
Germline

Chr5:132392576

Pathogenic/Likely pathogenic

Renal carnitine transport defect
Condition: not provided
Decreased circulating carnitine concentration

Criteria Provided
Multiple Submitters
No Conflicts

CA3404150

rs_749282641

7 SubmittersRCV000535447 RCV001546222 RCV002226469

NM_003060.4(SLC22A5):c.1462C>T (p.Arg488Cys)

SNV
Germline

Chr5:132393687

Pathogenic/Likely pathogenic

Renal carnitine transport defect
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3404179

rs_377216516

8 SubmittersRCV000528265 RCV000786403

NM_003060.4(SLC22A5):c.-26G>A

SNV
Germline

Chr5:132369947

Conflicting classifications of pathogenicity

not specified
Renal carnitine transport defect

Criteria Provided
Conflicting Classifications

CA3403757

rs_369724970

3 SubmittersRCV000603099 RCV001157361

NM_003060.4(SLC22A5):c.614T>G (p.Met205Arg)

SNV
Germline

Chr5:132384263

Likely pathogenic

Renal carnitine transport defect

No Assertion Criteria Provided

CA360804849

rs_796052033

1 SubmittersRCV000625694

NM_003060.4(SLC22A5):c.361C>T (p.Gln121Ter)

SNV
Germline

Chr5:132370333

Pathogenic

Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

CA360802901

rs_1554086010

2 SubmittersRCV000626063

NM_003060.4(SLC22A5):c.1113C>T (p.Asp371=)

SNV
Germline

Chr5:132390750

Conflicting classifications of pathogenicity

Renal carnitine transport defect

Criteria Provided
Conflicting Classifications

CA3404082

rs_200637508

3 SubmittersRCV000635356

NM_003060.4(SLC22A5):c.1296G>C (p.Val432=)

SNV
Germline

Chr5:132392461

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3404127

rs_755533900

3 SubmittersRCV000635355 RCV001771858

NM_003060.4(SLC22A5):c.1403C>A (p.Thr468Lys)

SNV
Germline

Chr5:132392568

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Decreased circulating carnitine concentration

Criteria Provided
Conflicting Classifications

CA3404149

rs_386134221

3 SubmittersRCV000635353 RCV002226477

NM_003060.4(SLC22A5):c.2T>G (p.Met1Arg)

SNV
Unknown

Chr5:132369974

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_1554085885

1 SubmittersRCV000672799

NM_003060.4(SLC22A5):c.185G>A (p.Trp62Ter)

SNV
Unknown

Chr5:132370157

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_1554085942

1 SubmittersRCV000674161

NM_003060.4(SLC22A5):c.1458C>A (p.Tyr486Ter)

SNV
Unknown

Chr5:132393683

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

rs_763224132

2 SubmittersRCV000667484

NM_003060.4(SLC22A5):c.391G>T (p.Glu131Ter)

SNV
Unknown

Chr5:132370363

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_1321705165

1 SubmittersRCV000665409

NM_003060.4(SLC22A5):c.1052+1G>T

SNV
Unknown

Chr5:132389022

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_1554087949

1 SubmittersRCV000665294

NM_003060.4(SLC22A5):c.1267+1G>A

SNV
Unknown

Chr5:132390905

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_1554088200

1 SubmittersRCV000665060

NM_003060.4(SLC22A5):c.1A>T (p.Met1Leu)

SNV
Unknown

Chr5:132369973

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_774971089

1 SubmittersRCV000670455

NM_003060.4(SLC22A5):c.252C>G (p.Tyr84Ter)

SNV
Unknown

Chr5:132370224

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_1253026669

1 SubmittersRCV000669636

NM_003060.4(SLC22A5):c.952-2A>G

SNV
Unknown

Chr5:132388919

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554087913

2 SubmittersRCV000666108

NM_003060.4(SLC22A5):c.1A>G (p.Met1Val)

SNV
Unknown

Chr5:132369973

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_774971089

1 SubmittersRCV000669076

NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val)

SNV
Germline

Chr5:132390776

Conflicting classifications of pathogenicity

Renal carnitine transport defect
not specified
SLC22A5-related disorder

Criteria Provided
Conflicting Classifications

rs_746187344

5 SubmittersRCV000669110 RCV002282306 RCV004754525

NM_003060.4(SLC22A5):c.40T>A (p.Trp14Arg)

SNV
Germline

Chr5:132370012

Pathogenic

Renal carnitine transport defect
Decreased circulating carnitine concentration

Criteria Provided
Single Submitter

rs_756863825

2 SubmittersRCV000703959 RCV002226488

NM_003060.4(SLC22A5):c.538C>G (p.Gln180Glu)

SNV
Germline

Chr5:132384187

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Decreased circulating carnitine concentration

Criteria Provided
Conflicting Classifications

rs_1437174685

5 SubmittersRCV000698844 RCV001274334

NM_003060.4(SLC22A5):c.131C>T (p.Ala44Val)

SNV
Germline

Chr5:132370103

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Decreased circulating carnitine concentration
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_199689597

7 SubmittersRCV000695244 RCV002226483 RCV002245598

NM_003060.4(SLC22A5):c.415G>A (p.Asp139Asn)

SNV
Germline

Chr5:132378399

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Decreased circulating carnitine concentration

Criteria Provided
Conflicting Classifications

rs_577131769

3 SubmittersRCV000704966 RCV001274333

NM_003060.4(SLC22A5):c.247C>T (p.Arg83Cys)

SNV
Germline

Chr5:132370219

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_749499293

1 SubmittersRCV000701752

NM_003060.4(SLC22A5):c.394-141T>C

SNV
Germline

Chr5:132378237

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_1561566541

1 SubmittersRCV000714865

NM_003060.4(SLC22A5):c.592G>T (p.Val198Leu)

SNV
Germline

Chr5:132384241

Conflicting classifications of pathogenicity

Renal carnitine transport defect

Criteria Provided
Conflicting Classifications

rs_757979350

2 SubmittersRCV000781949

NM_003060.4(SLC22A5):c.55C>A (p.Arg19Ser)

SNV
Germline

Chr5:132370027

Conflicting classifications of pathogenicity

Renal carnitine transport defect

Criteria Provided
Conflicting Classifications

rs_1319889867

2 SubmittersRCV000807350

NM_003060.4(SLC22A5):c.1072T>A (p.Tyr358Asn)

SNV
Germline

Chr5:132390709

Pathogenic/Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

rs_61731073

3 SubmittersRCV000807405

NM_003060.4(SLC22A5):c.1364C>G (p.Pro455Arg)

SNV
Germline

Chr5:132392529

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1408166345

5 SubmittersRCV000811626 RCV001570976

NM_003060.4(SLC22A5):c.1440C>T (p.Phe480=)

SNV
Germline

Chr5:132392605

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Decreased circulating carnitine concentration

Criteria Provided
Conflicting Classifications

rs_150457229

4 SubmittersRCV000872503 RCV002226501

NM_003060.4(SLC22A5):c.1313G>A (p.Gly438Glu)

SNV
Germline

Chr5:132392478

Likely pathogenic

Renal carnitine transport defect

No Assertion Criteria Provided

rs_1580894230

1 SubmittersRCV000985078

NM_003060.4(SLC22A5):c.371A>G (p.Tyr124Cys)

SNV
Germline

Chr5:132370343

Conflicting classifications of pathogenicity

Condition: not provided
Renal carnitine transport defect
Decreased circulating carnitine concentration
not specified

Criteria Provided
Conflicting Classifications

rs_762126547

6 SubmittersRCV000998437 RCV001051306 RCV002226506 RCV003987757

NM_003060.4(SLC22A5):c.728A>C (p.Tyr243Ser)

SNV
Germline

Chr5:132385403

Conflicting classifications of pathogenicity

Condition: not provided
Renal carnitine transport defect
Decreased circulating carnitine concentration
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1321621475

5 SubmittersRCV003160220 RCV001036928 RCV002226508 RCV002552468

NM_003060.4(SLC22A5):c.797C>G (p.Pro266Arg)

SNV
Germline

Chr5:132385472

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_538372785

1 SubmittersRCV001035191

NM_003060.4(SLC22A5):c.797C>T (p.Pro266Leu)

SNV
Germline

Chr5:132385472

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Decreased circulating carnitine concentration

Criteria Provided
Conflicting Classifications

rs_538372785

5 SubmittersRCV001050052 RCV002226512

NM_003060.4(SLC22A5):c.1521G>C (p.Leu507Phe)

SNV
Germline

Chr5:132393746

Conflicting classifications of pathogenicity

Renal carnitine transport defect

Criteria Provided
Conflicting Classifications

rs_778716973

3 SubmittersRCV001037880

NM_003060.4(SLC22A5):c.825-52G>A

SNV
Germline

Chr5:132386973

Pathogenic

Renal carnitine transport defect
Decreased circulating carnitine concentration

Criteria Provided
Multiple Submitters
No Conflicts

rs_1194929977

3 SubmittersRCV001045059 RCV002226510

NM_003060.4(SLC22A5):c.248G>C (p.Arg83Pro)

SNV
Germline

Chr5:132370220

Conflicting classifications of pathogenicity

Condition: not provided
Renal carnitine transport defect

Criteria Provided
Conflicting Classifications

rs_72552726

2 SubmittersRCV001091581 RCV003615868

NM_003060.4(SLC22A5):c.470C>T (p.Ser157Phe)

SNV
Germline

Chr5:132378454

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Decreased circulating carnitine concentration
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_759925126

3 SubmittersRCV001219034 RCV002226520 RCV004792811

NM_003060.4(SLC22A5):c.506G>C (p.Arg169Pro)

SNV
Germline

Chr5:132384155

Pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_121908889

1 SubmittersRCV001216413

NM_003060.4(SLC22A5):c.503G>A (p.Gly168Asp)

SNV
Germline

Chr5:132384152

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_1752440697

1 SubmittersRCV001208797

NM_003060.4(SLC22A5):c.497+2T>A

SNV
Germline

Chr5:132378483

Pathogenic/Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

rs_1752229268

2 SubmittersRCV001206442

NM_003060.4(SLC22A5):c.824+1G>A

SNV
Germline

Chr5:132385500

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_1417000465

1 SubmittersRCV001214256

NM_003060.4(SLC22A5):c.1412G>T (p.Arg471Leu)

SNV
Germline

Chr5:132392577

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

rs_386134223

2 SubmittersRCV001229241

NM_003060.4(SLC22A5):c.844C>G (p.Arg282Gly)

SNV
Germline

Chr5:132387044

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_121908886

1 SubmittersRCV001242928

NM_003060.4(SLC22A5):c.1006C>T (p.Arg336Ter)

SNV
Germline

Chr5:132388975

Pathogenic/Likely pathogenic

Renal carnitine transport defect
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_754008420

5 SubmittersRCV001246766 RCV002512148

NM_003060.4(SLC22A5):c.394-2A>T

SNV
Germline

Chr5:132378376

Pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_377724489

1 SubmittersRCV001235654

NM_003060.4(SLC22A5):c.1053-6T>C

SNV
Germline

Chr5:132390684

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_1752665099

1 SubmittersRCV001230577

NM_003060.4(SLC22A5):c.113C>A (p.Ser38Tyr)

SNV
Germline

Chr5:132370085

Pathogenic

Renal carnitine transport defect
Decreased circulating carnitine concentration

Criteria Provided
Single Submitter

rs_369354736

2 SubmittersRCV001346970 RCV002226543

NM_003060.4(SLC22A5):c.55C>T (p.Arg19Cys)

SNV
Germline

Chr5:132370027

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_1319889867

1 SubmittersRCV001364335

NM_003060.4(SLC22A5):c.44G>A (p.Gly15Glu)

SNV
Germline

Chr5:132370016

Conflicting classifications of pathogenicity

Renal carnitine transport defect

Criteria Provided
Conflicting Classifications

rs_751129547

2 SubmittersRCV001376870

NM_003060.4(SLC22A5):c.839C>A (p.Ser280Tyr)

SNV
Germline

Chr5:132387039

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_386134208

1 SubmittersRCV001379000

NM_003060.4(SLC22A5):c.2T>C (p.Met1Thr)

SNV
Germline

Chr5:132369974

Pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_1554085885

1 SubmittersRCV001383928

NM_003060.4(SLC22A5):c.37G>T (p.Glu13Ter)

SNV
Germline

Chr5:132370009

Pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_553647459

1 SubmittersRCV001380634

NM_003060.4(SLC22A5):c.479C>A (p.Ser160Ter)

SNV
Germline

Chr5:132378463

Pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_2126775809

1 SubmittersRCV001387403

NM_003060.4(SLC22A5):c.1347C>A (p.Tyr449Ter)

SNV
Germline

Chr5:132392512

Pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_2126791445

1 SubmittersRCV001385167

NM_003060.4(SLC22A5):c.1520T>C (p.Leu507Ser)

SNV
Germline

Chr5:132393745

Conflicting classifications of pathogenicity

Renal carnitine transport defect

Criteria Provided
Conflicting Classifications

rs_1157198543

3 SubmittersRCV001380048

NM_003060.4(SLC22A5):c.1346A>G (p.Tyr449Cys)

SNV
Germline

Chr5:132392511

Conflicting classifications of pathogenicity

Condition: not provided
Renal carnitine transport defect

Criteria Provided
Conflicting Classifications

rs_1183338050

4 SubmittersRCV001767712 RCV002286580

NM_003060.4(SLC22A5):c.1385G>A (p.Gly462Asp)

SNV
Germline

Chr5:132392550

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

rs_2126791535

2 SubmittersRCV001783755

NM_003060.4(SLC22A5):c.115T>G (p.Ser39Ala)

SNV
Germline

Chr5:132370087

Conflicting classifications of pathogenicity

Renal carnitine transport defect
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_544332057

4 SubmittersRCV001866448 RCV003164065

NM_003060.4(SLC22A5):c.328C>T (p.Gln110Ter)

SNV
Germline

Chr5:132370300

Pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_2126765527

1 SubmittersRCV001948087

NM_003060.4(SLC22A5):c.679C>T (p.Arg227Cys)

SNV
Germline

Chr5:132385354

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

rs_546902674

2 SubmittersRCV001975904

NM_003060.4(SLC22A5):c.1159T>C (p.Tyr387His)

SNV
Germline

Chr5:132390796

Conflicting classifications of pathogenicity

Renal carnitine transport defect
not specified

Criteria Provided
Conflicting Classifications

rs_2126789736

2 SubmittersRCV002042412 RCV004690223

NM_003060.4(SLC22A5):c.901G>A (p.Ala301Thr)

SNV
Germline

Chr5:132387101

Conflicting classifications of pathogenicity

Renal carnitine transport defect
not specified

Criteria Provided
Conflicting Classifications

rs_2126786122

2 SubmittersRCV002008404 RCV004587281

NM_003060.4(SLC22A5):c.197C>T (p.Thr66Ile)

SNV
Germline

Chr5:132370169

Conflicting classifications of pathogenicity

Renal carnitine transport defect

Criteria Provided
Conflicting Classifications

rs_1169005119

2 SubmittersRCV001944506

NM_003060.4(SLC22A5):c.694A>G (p.Thr232Ala)

SNV
Germline

Chr5:132385369

Conflicting classifications of pathogenicity

Renal carnitine transport defect
not specified

Criteria Provided
Conflicting Classifications

rs_188698686

2 SubmittersRCV002003878 RCV003323969

NM_003060.4(SLC22A5):c.1446C>G (p.Tyr482Ter)

SNV
Germline

Chr5:132392611

Pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_569268772

1 SubmittersRCV001940696

NM_003060.4(SLC22A5):c.859C>T (p.Gln287Ter)

SNV
Germline

Chr5:132387059

Pathogenic/Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

rs_931801909

2 SubmittersRCV002035228

NM_003060.4(SLC22A5):c.680G>T (p.Arg227Leu)

SNV
Germline

Chr5:132385355

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_185551386

1 SubmittersRCV002022086

NM_003060.4(SLC22A5):c.976C>T (p.Gln326Ter)

SNV
Germline

Chr5:132388945

Pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_1047810495

1 SubmittersRCV001949739

NM_003060.4(SLC22A5):c.1412G>C (p.Arg471Pro)

SNV
Germline

Chr5:132392577

Pathogenic/Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

rs_386134223

3 SubmittersRCV001951258

NM_003060.4(SLC22A5):c.1384G>A (p.Gly462Ser)

SNV
Germline

Chr5:132392549

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_1193551446

1 SubmittersRCV002013934

NM_003060.4(SLC22A5):c.740C>G (p.Pro247Arg)

SNV
Germline

Chr5:132385415

Pathogenic/Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

rs_2126783802

2 SubmittersRCV001956275

NM_003060.4(SLC22A5):c.92C>T (p.Pro31Leu)

SNV
Germline

Chr5:132370064

Pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_2126764868

1 SubmittersRCV001949530

NM_003060.4(SLC22A5):c.835G>T (p.Glu279Ter)

SNV
Germline

Chr5:132387035

Pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_2126785892

1 SubmittersRCV001959906

NM_003060.4(SLC22A5):c.94A>G (p.Asn32Asp)

SNV
Germline

Chr5:132370066

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_727504158

1 SubmittersRCV002026651

NM_003060.4(SLC22A5):c.84C>A (p.Ser28Arg)

SNV
Germline

Chr5:132370056

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_773693788

1 SubmittersRCV002005112

NM_003060.4(SLC22A5):c.1432C>T (p.Pro478Ser)

SNV
Germline

Chr5:132392597

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

rs_2126791630

1 SubmittersRCV002021618

NM_003060.4(SLC22A5):c.631T>C (p.Tyr211His)

SNV
Germline

Chr5:132384280

Pathogenic/Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

rs_780314370

2 SubmittersRCV002246709

NM_003060.4(SLC22A5):c.575A>G (p.Asn192Ser)

SNV
Germline

Chr5:132384224

Conflicting classifications of pathogenicity

Renal carnitine transport defect

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002286625

NM_003060.4(SLC22A5):c.902C>G (p.Ala301Gly)

SNV
Germline

Chr5:132387102

Conflicting classifications of pathogenicity

Renal carnitine transport defect

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002286628

NM_003060.4(SLC22A5):c.685A>C (p.Ile229Leu)

SNV
Germline

Chr5:132385360

Conflicting classifications of pathogenicity

Renal carnitine transport defect

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002286631

NM_003060.4(SLC22A5):c.1064C>T (p.Ser355Leu)

SNV
Germline

Chr5:132390701

Conflicting classifications of pathogenicity

Renal carnitine transport defect

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002286640

NM_003060.4(SLC22A5):c.1138G>A (p.Ala380Thr)

SNV
Germline

Chr5:132390775

Conflicting classifications of pathogenicity

Renal carnitine transport defect

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002286645

NM_003060.4(SLC22A5):c.679C>A (p.Arg227Ser)

SNV
Germline

Chr5:132385354

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV002286650

NM_003060.4(SLC22A5):c.700G>C (p.Gly234Arg)

SNV
Germline

Chr5:132385375

Conflicting classifications of pathogenicity

Renal carnitine transport defect

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002286657

NM_003060.4(SLC22A5):c.1147G>T (p.Glu383Ter)

SNV
Unknown

Chr5:132390784

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV002307859

NM_003060.4(SLC22A5):c.350G>A (p.Trp117Ter)

SNV
Germline

Chr5:132370322

Pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV003060012

NM_003060.4(SLC22A5):c.497+1G>T

SNV
Germline

Chr5:132378482

Pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV003037120

NM_003060.4(SLC22A5):c.845G>C (p.Arg282Pro)

SNV
Germline

Chr5:132387045

Pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV003074364

NM_003060.4(SLC22A5):c.641C>G (p.Ala214Gly)

SNV
Germline

Chr5:132384290

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV003060949

NM_003060.4(SLC22A5):c.1073A>G (p.Tyr358Cys)

SNV
Germline

Chr5:132390710

Conflicting classifications of pathogenicity

Renal carnitine transport defect
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002664012 RCV004587445

NM_003060.4(SLC22A5):c.113C>G (p.Ser38Cys)

SNV
Germline

Chr5:132370085

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV002597084

NM_003060.4(SLC22A5):c.308T>G (p.Val103Gly)

SNV
Germline

Chr5:132370280

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV002594451

NM_003060.4(SLC22A5):c.1531G>C (p.Glu511Gln)

SNV
Germline

Chr5:132393756

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV002675557

NM_003060.4(SLC22A5):c.427C>T (p.Pro143Ser)

SNV
Germline

Chr5:132378411

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV002639794

NM_003060.4(SLC22A5):c.1399T>C (p.Ser467Pro)

SNV
Germline

Chr5:132392564

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV002663548

NM_003060.4(SLC22A5):c.1299G>A (p.Met433Ile)

SNV
Germline

Chr5:132392464

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV002790825

NM_003060.4(SLC22A5):c.1409C>A (p.Ser470Tyr)

SNV
Germline

Chr5:132392574

Pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV002918662

NM_003060.4(SLC22A5):c.1586+2T>G

SNV
Germline

Chr5:132393813

Pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV002967646

NM_003060.4(SLC22A5):c.719C>T (p.Ala240Val)

SNV
Germline

Chr5:132385394

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV003003207

NM_003060.4(SLC22A5):c.821G>A (p.Trp274Ter)

SNV
Germline

Chr5:132385496

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV003223597

NM_003060.4(SLC22A5):c.278C>A (p.Ser93Ter)

SNV
Germline

Chr5:132370250

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV003226736

NM_003060.4(SLC22A5):c.503G>C (p.Gly168Ala)

SNV
Germline

Chr5:132384152

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV003236601

NM_003060.4(SLC22A5):c.1451-2A>G

SNV
Unknown

Chr5:132393674

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV003472777

NM_003060.4(SLC22A5):c.1450+1G>A

SNV
Unknown

Chr5:132392616

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV003472780

NM_003060.4(SLC22A5):c.1014G>A (p.Trp338Ter)

SNV
Unknown

Chr5:132388983

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV003472782

NM_003060.4(SLC22A5):c.824G>A (p.Trp275Ter)

SNV
Unknown

Chr5:132385499

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV003472785

NM_003060.4(SLC22A5):c.394-2A>G

SNV
Unknown

Chr5:132378376

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV003472787

NM_003060.4(SLC22A5):c.951+1G>A

SNV
Unknown

Chr5:132387152

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV003472788

NM_003060.4(SLC22A5):c.824+1G>T

SNV
Unknown

Chr5:132385500

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV003472790

NM_003060.4(SLC22A5):c.497+1G>A

SNV
Germline

Chr5:132378482

Pathogenic/Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003472792

NM_003060.4(SLC22A5):c.1268-2A>G

SNV
Unknown

Chr5:132392431

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV003472793

NM_003060.4(SLC22A5):c.1074T>G (p.Tyr358Ter)

SNV
Unknown

Chr5:132390711

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV003472797

NM_003060.4(SLC22A5):c.679C>G (p.Arg227Gly)

SNV
Germline

Chr5:132385354

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV003508676

NM_003060.4(SLC22A5):c.250T>A (p.Tyr84Asn)

SNV
Germline

Chr5:132370222

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV003508831

NM_003060.4(SLC22A5):c.352G>T (p.Glu118Ter)

SNV
Germline

Chr5:132370324

Pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV003507104

NM_003060.4(SLC22A5):c.34G>C (p.Gly12Arg)

SNV
Germline

Chr5:132370006

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV003507836

NM_003060.4(SLC22A5):c.43G>A (p.Gly15Arg)

SNV
Germline

Chr5:132370015

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV003616440

NM_003060.4(SLC22A5):c.620A>G (p.Gln207Arg)

SNV
Germline

Chr5:132384269

Pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV003616417

NM_003060.4(SLC22A5):c.952-1G>T

SNV
Germline

Chr5:132388920

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV003616833

NM_003060.4(SLC22A5):c.652+1G>T

SNV
Germline

Chr5:132384302

Pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV003616776

NM_003060.4(SLC22A5):c.653-2A>G

SNV
Germline

Chr5:132385326

Pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV003616798

NM_003060.4(SLC22A5):c.78C>G (p.Ser26Arg)

SNV
Germline

Chr5:132370050

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV003617032

NM_003060.4(SLC22A5):c.1586+1G>A

SNV
Germline

Chr5:132393812

Pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV003615676

NM_003060.4(SLC22A5):c.272A>C (p.Asn91Thr)

SNV
Germline

Chr5:132370244

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV003615697

NM_003060.4(SLC22A5):c.292G>T (p.Glu98Ter)

SNV
Unknown

Chr5:132370264

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV004573605

NM_003060.4(SLC22A5):c.1585G>T (p.Gly529Ter)

SNV
Germline

Chr5:132393810

Likely pathogenic

Renal carnitine transport defect

Criteria Provided
Single Submitter

1 SubmittersRCV004593580