Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His)	SNV Germline	Chr5:149028146	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4C Condition: not provided Charcot-Marie-Tooth disease type 4	Criteria Provided Conflicting Classifications	CA339983	rs_80338923	7 SubmittersRCV000002582 RCV000998463 RCV000857152
NM_024577.4(SH3TC2):c.530-2A>G	SNV Germline	Chr5:149041619	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease	No Assertion Criteria Provided	CA339987	rs_80338920	3 SubmittersRCV000002584 RCV000790209
NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter)	SNV Germline	Chr5:149026903	Pathogenic	Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA339988	rs_80338932	7 SubmittersRCV000002585 RCV001223054 RCV001310527
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)	SNV Germline	Chr5:149026872	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4 Condition: not provided SH3TC2-related disorder Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C Inborn genetic diseases Tip-toe gait	Criteria Provided Multiple Submitters No Conflicts	CA115573	rs_80338933	40 SubmittersRCV000002586 RCV000002587 RCV000144877 RCV000168436 RCV000255213 RCV000282937 RCV000515338 RCV000622836 RCV001851586
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)	SNV Germline	Chr5:149010272	Pathogenic	Charcot-Marie-Tooth disease type 4C Condition: not provided Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C	Criteria Provided Multiple Submitters No Conflicts	CA339991	rs_80338934	21 SubmittersRCV000002588 RCV000218266 RCV000654100 RCV000857137 RCV002496231
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)	SNV Germline	Chr5:149042718	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C 7 conditions Condition: not provided Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4 not specified Tip-toe gait Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA115576	rs_80359890	20 SubmittersRCV000002591 RCV000002590 RCV000415264 RCV000656975 RCV001172848 RCV001079620 RCV001705579 RCV001293355 RCV002345223
NM_024577.4(SH3TC2):c.1178-1G>A	SNV Germline	Chr5:149028555	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild	Criteria Provided Multiple Submitters No Conflicts	CA342371	rs_80338922	3 SubmittersRCV000020886 RCV000789563 RCV005042074
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys)	SNV Germline	Chr5:149027763	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease Condition: not provided Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild	Criteria Provided Multiple Submitters No Conflicts	CA339774	rs_80338925	9 SubmittersRCV000020887 RCV000857147 RCV004786278 RCV000206757 RCV002496432
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)	SNV Germline	Chr5:149027760	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 4C Condition: not provided Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Susceptibility to mononeuropathy of the median nerve, mild Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA342372	rs_80338926	12 SubmittersRCV000020888 RCV000236498 RCV000654080 RCV001173151 RCV001270096 RCV002490399 RCV002415424
NM_024577.4(SH3TC2):c.2710C>T (p.Arg904Ter)	SNV Germline	Chr5:149027022	Pathogenic	Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4 Condition: not provided Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C	Criteria Provided Multiple Submitters No Conflicts	CA339763	rs_80338931	7 SubmittersRCV000020894 RCV000205920 RCV002292457 RCV005042075
NM_024577.4(SH3TC2):c.3601C>T (p.Gln1201Ter)	SNV Germline	Chr5:149006955	Pathogenic	Charcot-Marie-Tooth disease type 4C	Criteria Provided Single Submitter	CA342388	rs_80338937	2 SubmittersRCV000020898
NM_024577.4(SH3TC2):c.645C>T (p.Ser215=)	SNV Germline	Chr5:149041502	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 4 not specified Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C Inborn genetic diseases Charcot-Marie-Tooth disease	Criteria Provided Conflicting Classifications	CA289042	rs_80227512	7 SubmittersRCV000118339 RCV000203974 RCV000212999 RCV000301828 RCV001095080 RCV002362747 RCV001173902
NM_024577.4(SH3TC2):c.3550A>G (p.Met1184Val)	SNV Germline	Chr5:149007006	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4 Condition: not provided Charcot-Marie-Tooth disease type 4C Inborn genetic diseases not specified Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C	Criteria Provided Conflicting Classifications	CA270944	rs_142451273	10 SubmittersRCV000144878 RCV000403900 RCV000465654 RCV000488069 RCV001094974 RCV002453463 RCV004998293 RCV005394500
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val)	SNV Germline	Chr5:149004892	Conflicting classifications of pathogenicity	not specified Condition: not provided Charcot-Marie-Tooth disease type 4 Susceptibility to mononeuropathy of the median nerve, mild Inborn genetic diseases SH3TC2-related disorder Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4C	Criteria Provided Conflicting Classifications	CA334024	rs_146920285	13 SubmittersRCV000237055 RCV000713265 RCV001082893 RCV001157181 RCV002453563 RCV004535140 RCV000789576 RCV000987610
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His)	SNV Germline	Chr5:149027870	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease Inborn genetic diseases not specified Condition: not provided Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4C SH3TC2-related disorder	Criteria Provided Conflicting Classifications	CA239663	rs_143032801	10 SubmittersRCV001157383 RCV001173837 RCV002408756 RCV000236423 RCV000724178 RCV001085590 RCV001157384 RCV004535197
NM_024577.4(SH3TC2):c.3315G>A (p.Val1105=)	SNV Germline	Chr5:149010282	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4 not specified Charcot-Marie-Tooth disease type 4C Inborn genetic diseases Charcot-Marie-Tooth disease Condition: not provided	Criteria Provided Conflicting Classifications	CA339546	rs_375970910	7 SubmittersRCV000297413 RCV000200778 RCV000516186 RCV001095068 RCV002453723 RCV001172844 RCV001705153
NM_024577.4(SH3TC2):c.1A>G (p.Met1Val)	SNV Germline	Chr5:149063022	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4 Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C	Criteria Provided Multiple Submitters No Conflicts	CA339657	rs_864309709	3 SubmittersRCV000203275 RCV001045169 RCV005031774
NM_024577.4(SH3TC2):c.3813C>T (p.Ser1271=)	SNV Germline	Chr5:149004765	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 not specified Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild Inborn genetic diseases Charcot-Marie-Tooth disease Condition: not provided	Criteria Provided Conflicting Classifications	CA350004	rs_140985600	8 SubmittersRCV000205903 RCV000429860 RCV001095104 RCV000373351 RCV002354576 RCV001173203 RCV001711358
NM_024577.4(SH3TC2):c.3154C>T (p.Arg1052Ter)	SNV Germline	Chr5:149012634	Pathogenic	Charcot-Marie-Tooth disease type 4 Condition: not provided Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease	Criteria Provided Multiple Submitters No Conflicts	CA349022	rs_370115218	4 SubmittersRCV000204837 RCV000578944 RCV002500652 RCV001172827
NM_024577.4(SH3TC2):c.2304C>T (p.Leu768=)	SNV Germline	Chr5:149027428	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild Inborn genetic diseases Charcot-Marie-Tooth disease Condition: not provided	Criteria Provided Conflicting Classifications	CA350032	rs_140829706	6 SubmittersRCV000205943 RCV001153076 RCV001153077 RCV002444829 RCV001172839 RCV001675671
NM_024577.4(SH3TC2):c.689T>C (p.Val230Ala)	SNV Germline	Chr5:149041458	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 not specified Susceptibility to mononeuropathy of the median nerve, mild Condition: not provided Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease Inborn genetic diseases SH3TC2-related disorder	Criteria Provided Conflicting Classifications	CA349654	rs_148634904	10 SubmittersRCV000205496 RCV000235753 RCV000289039 RCV000726668 RCV001095079 RCV001173160 RCV002372193 RCV004541285
NM_024577.4(SH3TC2):c.211C>T (p.Gln71Ter)	SNV Germline	Chr5:149047930	Pathogenic	Charcot-Marie-Tooth disease type 4 Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C	Criteria Provided Multiple Submitters No Conflicts	CA348045	rs_864622663	2 SubmittersRCV000203755 RCV005042449
NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro)	SNV Germline	Chr5:149052156	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 not specified Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4C Condition: not provided SH3TC2-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA348097	rs_146162276	10 SubmittersRCV000203817 RCV000235858 RCV001153403 RCV000789697 RCV001153404 RCV001722118 RCV004530221 RCV002381703
NM_024577.4(SH3TC2):c.79A>G (p.Thr27Ala)	SNV Germline	Chr5:149052214	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease Susceptibility to mononeuropathy of the median nerve, mild Inborn genetic diseases Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4C SH3TC2-related disorder not specified	Criteria Provided Conflicting Classifications	CA349459	rs_141649676	12 SubmittersRCV000205289 RCV000789695 RCV001156005 RCV002415868 RCV001081115 RCV001153405 RCV004530230 RCV004998431
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln)	SNV Germline	Chr5:149008949	Conflicting classifications of pathogenicity	Condition: not provided Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4C Delayed speech and language development Pes cavus Tip-toe gait limited range of motion of the upper ankle Charcot-Marie-Tooth disease Tip-toe gait Inborn genetic diseases SH3TC2-related disorder not specified	Criteria Provided Conflicting Classifications	CA3498756	rs_139192433	13 SubmittersRCV000214292 RCV000355518 RCV000473910 RCV001095006 RCV001549281 RCV001173826 RCV001352888 RCV002450641 RCV004529380 RCV004998493
NM_024577.4(SH3TC2):c.2990G>A (p.Arg997Gln)	SNV Germline	Chr5:149026635	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4C Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3498881	rs_140307699	7 SubmittersRCV000233589 RCV001173825 RCV001332526 RCV001697618 RCV002436039
NM_024577.4(SH3TC2):c.1245G>A (p.Gly415=)	SNV Germline	Chr5:149028487	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3499219	rs_748870159	4 SubmittersRCV000225941 RCV000355598 RCV001393032 RCV000859073 RCV002392718
NM_024577.4(SH3TC2):c.2954A>G (p.Glu985Gly)	SNV Germline	Chr5:149026671	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 4 Condition: not provided Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3498889	rs_575937427	8 SubmittersRCV000236841 RCV000477370 RCV000767114 RCV000765819 RCV001173155 RCV002436061
NM_024577.4(SH3TC2):c.2488G>T (p.Glu830Ter)	SNV Germline	Chr5:149027244	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild	Criteria Provided Multiple Submitters No Conflicts	CA10584269	rs_879254317	2 SubmittersRCV000235715 RCV005031827
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu)	SNV Germline	Chr5:149028434	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Condition: not provided Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild not specified Inborn genetic diseases Charcot-Marie-Tooth disease Tip-toe gait	Criteria Provided Conflicting Classifications	CA3499208	rs_200967041	12 SubmittersRCV000558978 RCV000723677 RCV001157495 RCV001157494 RCV001706410 RCV002379107 RCV000789696 RCV003319193
NM_024577.4(SH3TC2):c.*21658A>G	SNV Germline	Chr5:148983053	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild	Criteria Provided Conflicting Classifications	CA10619384	rs_145964634	1 SubmittersRCV000295687 RCV000348244
NM_024577.4(SH3TC2):c.*13465C>A	SNV Germline	Chr5:148991246	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C	Criteria Provided Conflicting Classifications	CA10619458	rs_186009343	1 SubmittersRCV000309984 RCV000357774
NM_024577.4(SH3TC2):c.*10863C>T	SNV Germline	Chr5:148993848	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild	Criteria Provided Conflicting Classifications	CA10619481	rs_181346624	1 SubmittersRCV000287675 RCV000351979
NM_024577.4(SH3TC2):c.*7006T>C	SNV Germline	Chr5:148997705	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C	Criteria Provided Conflicting Classifications	CA10619514	rs_187720692	1 SubmittersRCV000308209 RCV000362853
NM_024577.4(SH3TC2):c.*5368C>T	SNV Germline	Chr5:148999343	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild	Criteria Provided Conflicting Classifications	CA10619552	rs_189202481	1 SubmittersRCV000312808 RCV000367506
NM_024577.4(SH3TC2):c.*2500C>A	SNV Germline	Chr5:149002211	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C	Criteria Provided Conflicting Classifications	CA10619575	rs_559833500	1 SubmittersRCV000264033 RCV000356510
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=)	SNV Germline	Chr5:149004783	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild not specified Condition: not provided Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease Inborn genetic diseases SH3TC2-related disorder	Criteria Provided Conflicting Classifications	CA3498626	rs_144873879	12 SubmittersRCV000333938 RCV000419130 RCV000710218 RCV000555131 RCV001095105 RCV001172841 RCV002356484 RCV004530421
NM_024577.4(SH3TC2):c.2094C>T (p.Ile698=)	SNV Germline	Chr5:149027638	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10619602	rs_886060196	2 SubmittersRCV000269573 RCV000327176 RCV002418211
NM_024577.4(SH3TC2):c.255C>T (p.Asp85=)	SNV Germline	Chr5:149047886	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10619608	rs_886060199	2 SubmittersRCV000343436 RCV000377152 RCV002429314
NM_024577.4(SH3TC2):c.*14827T>A	SNV Germline	Chr5:148989884	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild	Criteria Provided Conflicting Classifications	CA10620597	rs_569378409	1 SubmittersRCV000366906 RCV000391636
NM_024577.4(SH3TC2):c.*6392C>A	SNV Germline	Chr5:148998319	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C	Criteria Provided Conflicting Classifications	CA10620679	rs_114817736	1 SubmittersRCV000300137 RCV000359615
NM_024577.4(SH3TC2):c.*5689A>C	SNV Germline	Chr5:148999022	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C	Criteria Provided Conflicting Classifications	CA10620685	rs_537285537	1 SubmittersRCV000279647 RCV000316081
NM_024577.4(SH3TC2):c.*3058A>G	SNV Germline	Chr5:149001653	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C	Criteria Provided Conflicting Classifications	CA10620711	rs_563916447	1 SubmittersRCV000284969 RCV000376990
NM_024577.4(SH3TC2):c.1105C>T (p.Arg369Cys)	SNV Germline	Chr5:149031584	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C Condition: not provided	Criteria Provided Conflicting Classifications	CA3499292	rs_569974719	3 SubmittersRCV000290373 RCV000385782 RCV001094984 RCV005230271
NM_024577.4(SH3TC2):c.*19406A>G	SNV Germline	Chr5:148985305	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild	Criteria Provided Conflicting Classifications	CA10623115	rs_72835351	1 SubmittersRCV000276857 RCV000313276
NM_024577.4(SH3TC2):c.*16257T>C	SNV Germline	Chr5:148988454	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C	Criteria Provided Conflicting Classifications	CA10623134	rs_572081330	1 SubmittersRCV000303283 RCV000360312
NM_024577.4(SH3TC2):c.*10864G>A	SNV Germline	Chr5:148993847	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild Condition: not provided	Criteria Provided Conflicting Classifications	CA10623238	rs_189701174	3 SubmittersRCV000327456 RCV000381991 RCV001785586
NM_024577.4(SH3TC2):c.*20773G>T	SNV Germline	Chr5:148983938	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C	Criteria Provided Conflicting Classifications	CA10623268	rs_113020040	1 SubmittersRCV000293099 RCV000389542
NM_024577.4(SH3TC2):c.*882G>A	SNV Germline	Chr5:149003829	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease	Criteria Provided Conflicting Classifications	CA3498589	rs_775429372	2 SubmittersRCV000273536 RCV000368125 RCV000857132
NM_024577.4(SH3TC2):c.*15235A>G	SNV Germline	Chr5:148989476	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C	Criteria Provided Conflicting Classifications	CA10623333	rs_145210501	1 SubmittersRCV000278016 RCV000370222
NM_024577.4(SH3TC2):c.3600G>A (p.Leu1200=)	SNV Germline	Chr5:149006956	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10623340	rs_886060195	2 SubmittersRCV000292382 RCV000386690 RCV002450926
NM_024577.4(SH3TC2):c.3303G>A (p.Arg1101=)	SNV Germline	Chr5:149010294	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3498785	rs_755006924	2 SubmittersRCV000276203 RCV000370684 RCV002323557
NM_024577.4(SH3TC2):c.*13598A>G	SNV Germline	Chr5:148991113	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C	Criteria Provided Conflicting Classifications	CA10623349	rs_141011337	1 SubmittersRCV000306299 RCV000400861
NM_024577.4(SH3TC2):c.1942C>T (p.Arg648Trp)	SNV Germline	Chr5:149027790	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4 Hereditary motor and sensory neuropathy Charcot-Marie-Tooth disease type 4C Condition: not provided	Criteria Provided Conflicting Classifications	CA3499088	rs_537049075	6 SubmittersRCV000268641 RCV000360932 RCV001030761 RCV001095110 RCV001706582
NM_024577.4(SH3TC2):c.1830G>A (p.Lys610=)	SNV Germline	Chr5:149027902	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3499112	rs_370025626	3 SubmittersRCV000351509 RCV000392955 RCV001482691 RCV002411247
NM_024577.4(SH3TC2):c.1814G>A (p.Arg605His)	SNV Germline	Chr5:149027918	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4C	Criteria Provided Conflicting Classifications	CA3499117	rs_186864272	3 SubmittersRCV000293064 RCV000349658 RCV001173887 RCV001094981
NM_024577.4(SH3TC2):c.549C>T (p.Ala183=)	SNV Germline	Chr5:149041598	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4 not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3499466	rs_147013935	7 SubmittersRCV000353171 RCV001095117 RCV001173200 RCV000654284 RCV001000996 RCV001584070 RCV002348106
NM_024577.4(SH3TC2):c.390C>T (p.Tyr130=)	SNV Germline	Chr5:149042833	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3499514	rs_776623792	3 SubmittersRCV000330936 RCV000383987 RCV002520333 RCV002374597
NM_024577.4(SH3TC2):c.285C>T (p.Leu95=)	SNV Germline	Chr5:149044633	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Susceptibility to mononeuropathy of the median nerve, mild not specified Charcot-Marie-Tooth disease type 4C Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3499547	rs_574669908	5 SubmittersRCV000273192 RCV000325802 RCV000421299 RCV001094986 RCV001815318 RCV002436215
NM_024577.4(SH3TC2):c.280-5C>T	SNV Germline	Chr5:149044643	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4 not specified Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3499549	rs_201937366	6 SubmittersRCV000286201 RCV000559399 RCV000605956 RCV001094987 RCV001173217 RCV002436216
NM_024577.4(SH3TC2):c.*10052C>T	SNV Germline	Chr5:148994659	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild Condition: not provided	Criteria Provided Conflicting Classifications	CA10623373	rs_113802539	2 SubmittersRCV000346026 RCV000395736 RCV002221529
NM_024577.4(SH3TC2):c.*8111A>C	SNV Germline	Chr5:148996600	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C Condition: not provided	Criteria Provided Conflicting Classifications	CA10623409	rs_17109205	2 SubmittersRCV000265443 RCV000327587 RCV001672653
NM_024577.4(SH3TC2):c.*6682G>C	SNV Germline	Chr5:148998029	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild	Criteria Provided Conflicting Classifications	CA10623437	rs_557452648	1 SubmittersRCV000321902 RCV000376515
NM_024577.4(SH3TC2):c.*2248A>G	SNV Germline	Chr5:149002463	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild	Criteria Provided Conflicting Classifications	CA10623508	rs_187399485	1 SubmittersRCV000278732 RCV000389471
NM_024577.4(SH3TC2):c.*1982C>A	SNV Germline	Chr5:149002729	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild	Criteria Provided Conflicting Classifications	CA10623511	rs_535127091	1 SubmittersRCV000304767 RCV000395410
NM_024577.4(SH3TC2):c.1721A>G (p.Asn574Ser)	SNV Germline	Chr5:149028011	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3499137	rs_201256776	6 SubmittersRCV000310013 RCV000525499 RCV001095013 RCV001173167 RCV000490113 RCV002402071
NM_024577.4(SH3TC2):c.751C>T (p.Pro251Ser)	SNV Germline	Chr5:149040658	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4 Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3499401	rs_144963732	9 SubmittersRCV000416281 RCV001173823 RCV000654078 RCV001153291 RCV001153292 RCV002392943
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser)	SNV Germline	Chr5:149027090	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Condition: not provided Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C	Criteria Provided Multiple Submitters No Conflicts	CA3498953	rs_80338930	8 SubmittersRCV001353153 RCV000456313 RCV000789561 RCV000441336 RCV005033952
NM_024577.4(SH3TC2):c.1767C>T (p.Ser589=)	SNV Germline	Chr5:149027965	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4C Condition: not provided Charcot-Marie-Tooth disease type 4 Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3499130	rs_139898175	6 SubmittersRCV001153180 RCV000762175 RCV001081855 RCV001153179 RCV001172847 RCV002411399
NM_024577.4(SH3TC2):c.517C>A (p.Leu173Met)	SNV Germline	Chr5:149042706	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Condition: not provided Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3499489	rs_147633804	6 SubmittersRCV000457307 RCV000992973 RCV001174034 RCV000765821 RCV002339147
NM_024577.4(SH3TC2):c.1585C>T (p.Arg529Cys)	SNV Germline	Chr5:149028147	Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4C	Criteria Provided Multiple Submitters No Conflicts	CA3499152	rs_750529207	3 SubmittersRCV000484690 RCV000792222 RCV004586727
NM_024577.4(SH3TC2):c.3676-8G>A	SNV Germline	Chr5:149004910	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease Condition: not provided Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4 Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C	Criteria Provided Multiple Submitters No Conflicts	CA3498648	rs_772823083	7 SubmittersRCV000789578 RCV000489941 RCV000824889 RCV001851311 RCV005034026
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys)	SNV Germline	Chr5:149007045	Pathogenic/Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4 SH3TC2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA3498696	rs_759785462	12 SubmittersRCV000517446 RCV000790335 RCV000754746 RCV000805465 RCV003483649
NM_024577.4(SH3TC2):c.794C>T (p.Ser265Phe)	SNV Germline	Chr5:149040615	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4C Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3499391	rs_149873249	5 SubmittersRCV000520448 RCV000654163 RCV001332529 RCV002420317
NM_024577.4(SH3TC2):c.2528G>T (p.Gly843Val)	SNV Germline	Chr5:149027204	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease Condition: not provided Charcot-Marie-Tooth disease type 4C	Criteria Provided Multiple Submitters No Conflicts	CA361666180	rs_1463859150	5 SubmittersRCV000546073 RCV000765820 RCV001173153 RCV004592604 RCV004701650
NM_024577.4(SH3TC2):c.3034C>T (p.Arg1012Trp)	SNV Germline	Chr5:149026591	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild Condition: not provided	Criteria Provided Conflicting Classifications	CA3498872	rs_541197556	3 SubmittersRCV000547987 RCV001157279 RCV001157280 RCV003488695
NM_024577.4(SH3TC2):c.2582G>A (p.Arg861Gln)	SNV Germline	Chr5:149027150	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Inborn genetic diseases Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C Condition: not provided Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4C	Criteria Provided Conflicting Classifications	CA3498964	rs_142971473	9 SubmittersRCV000534509 RCV002431715 RCV005398867 RCV000998462 RCV001173819 RCV003387882
NM_024577.4(SH3TC2):c.1431G>A (p.Glu477=)	SNV Germline	Chr5:149028301	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA128988408	rs_887057321	4 SubmittersRCV000557796 RCV001155783 RCV001155784 RCV002473060 RCV002395481
NM_024577.4(SH3TC2):c.1002-7G>A	SNV Germline	Chr5:149031694	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4C Condition: not provided Susceptibility to mononeuropathy of the median nerve, mild	Criteria Provided Conflicting Classifications	CA3499311	rs_752528409	4 SubmittersRCV000530936 RCV001152025 RCV001591302 RCV001152024
NM_024577.4(SH3TC2):c.2128C>T (p.Gln710Ter)	SNV Germline	Chr5:149027604	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4	Criteria Provided Multiple Submitters No Conflicts	CA3499055	rs_753287764	3 SubmittersRCV000578528 RCV005034149 RCV005091454
NM_024577.4(SH3TC2):c.2017G>A (p.Ala673Thr)	SNV Germline	Chr5:149027715	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Inborn genetic diseases Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild Condition: not provided	Criteria Provided Conflicting Classifications	CA3499076	rs_201985394	5 SubmittersRCV000654184 RCV002422422 RCV001155698 RCV001155699 RCV003126893
NM_024577.4(SH3TC2):c.2023G>A (p.Val675Ile)	SNV Germline	Chr5:149027709	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Inborn genetic diseases Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild	Criteria Provided Conflicting Classifications	CA3499075	rs_764633604	3 SubmittersRCV000654061 RCV002422421 RCV005392246
NM_024577.4(SH3TC2):c.830C>T (p.Thr277Met)	SNV Germline	Chr5:149038466	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4 Condition: not provided Inborn genetic diseases Susceptibility to mononeuropathy of the median nerve, mild SH3TC2-related disorder	Criteria Provided Conflicting Classifications	CA3499369	rs_757969875	7 SubmittersRCV000857157 RCV001153290 RCV000654173 RCV001092867 RCV002424545 RCV001153289 RCV004527713
NM_024577.4(SH3TC2):c.1403C>T (p.Ala468Val)	SNV Germline	Chr5:149028329	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 4 Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease SH3TC2-related disorder	Criteria Provided Conflicting Classifications	CA3499184	rs_6874630	9 SubmittersRCV000659031 RCV001089278 RCV001155785 RCV001155786 RCV001172836 RCV004544917
NM_024577.4(SH3TC2):c.929G>A (p.Gly310Glu)	SNV Germline	Chr5:149038367	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild	Criteria Provided Multiple Submitters No Conflicts	CA3499347	rs_763949764	2 SubmittersRCV000698448 RCV005046954
NM_024577.4(SH3TC2):c.730C>T (p.Gln244Ter)	SNV Germline	Chr5:149041417	Likely pathogenic	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C	Criteria Provided Single Submitter	CA361674224	rs_1463786931	1 SubmittersRCV005036104
NM_024577.4(SH3TC2):c.3013G>T (p.Glu1005Ter)	SNV Germline	Chr5:149026612	Pathogenic	Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild	Criteria Provided Multiple Submitters No Conflicts	CA361665126	rs_147895061	3 SubmittersRCV000789580 RCV003147547 RCV005036122
NM_024577.4(SH3TC2):c.2674C>T (p.Gln892Ter)	SNV Germline	Chr5:149027058	Pathogenic	Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C	Criteria Provided Multiple Submitters No Conflicts	CA3498949	rs_757797985	4 SubmittersRCV000790210 RCV005092378 RCV005036123 RCV005253123
NM_024577.4(SH3TC2):c.1378C>T (p.Gln460Ter)	SNV Germline	Chr5:149028354	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4	Criteria Provided Multiple Submitters No Conflicts	CA361668970	rs_1580901350	4 SubmittersRCV002501035 RCV000789719 RCV001171314 RCV001048825
NM_024577.4(SH3TC2):c.58G>T (p.Glu20Ter)	SNV Germline	Chr5:149052235	Pathogenic	Charcot-Marie-Tooth disease type 4C	No Assertion Criteria Provided	CA361681864	rs_1580917130	1 SubmittersRCV000790424
NM_024577.4(SH3TC2):c.2431C>T (p.Gln811Ter)	SNV Germline	Chr5:149027301	Likely pathogenic	Charcot-Marie-Tooth disease type 4C	Criteria Provided Single Submitter	CA361666380	rs_1580900150	1 SubmittersRCV000824888
NM_024577.4(SH3TC2):c.386-2A>C	SNV Germline	Chr5:149042839	Pathogenic/Likely pathogenic	Distal spinal muscular atrophy Charcot-Marie-Tooth disease type 4 Condition: not provided Inborn genetic diseases Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C	Criteria Provided Multiple Submitters No Conflicts	CA3499515	rs_145670786	6 SubmittersRCV000857159 RCV001035277 RCV001556920 RCV002352497 RCV004789241 RCV005036240
NM_024577.4(SH3TC2):c.660G>C (p.Val220=)	SNV Germline	Chr5:149041487	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease Susceptibility to mononeuropathy of the median nerve, mild	Criteria Provided Conflicting Classifications	CA3499441	rs_202052720	3 SubmittersRCV000864216 RCV001155885 RCV001173888 RCV001155886
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro)	SNV Germline	Chr5:149012645	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4 Inborn genetic diseases Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild	Criteria Provided Conflicting Classifications	CA3498842	rs_537759361	7 SubmittersRCV000992972 RCV001173831 RCV001321191 RCV002320205 RCV005418949 RCV005036265
NM_024577.4(SH3TC2):c.1712T>C (p.Leu571Pro)	SNV Germline	Chr5:149028020	Likely pathogenic	Charcot-Marie-Tooth disease type 4C	Criteria Provided Single Submitter	CA361667885	rs_1580900970	1 SubmittersRCV001007463
NM_024577.4(SH3TC2):c.1856T>A (p.Val619Glu)	SNV Germline	Chr5:149027876	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Condition: not provided Charcot-Marie-Tooth disease type 4C	Criteria Provided Conflicting Classifications	CA361667583	rs_1196218767	3 SubmittersRCV001068642 RCV001760047 RCV003225146
NM_024577.4(SH3TC2):c.375C>A (p.Tyr125Ter)	SNV Germline	Chr5:149044543	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 4 Condition: not provided Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C	Criteria Provided Multiple Submitters No Conflicts	CA361676525	rs_1754425732	4 SubmittersRCV001044557 RCV002473175 RCV005036324
NM_024577.4(SH3TC2):c.805+2T>C	SNV Germline	Chr5:149040602	Pathogenic/Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4	Criteria Provided Multiple Submitters No Conflicts	CA128996448	rs_139052887	4 SubmittersRCV001092868 RCV002290598 RCV001216729
NM_024577.4(SH3TC2):c.*21149A>G	SNV Germline	Chr5:148983562	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C	Criteria Provided Conflicting Classifications	CA128984606	rs_552963495	1 SubmittersRCV001157804 RCV001157803
NM_024577.4(SH3TC2):c.*20882A>G	SNV Germline	Chr5:148983829	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C	Criteria Provided Conflicting Classifications	CA128984720	rs_112269889	1 SubmittersRCV001152332 RCV001152333
NM_024577.4(SH3TC2):c.*20787G>A	SNV Germline	Chr5:148983924	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C	Criteria Provided Conflicting Classifications	CA128984781	rs_76578570	1 SubmittersRCV001153614 RCV001153615
NM_024577.4(SH3TC2):c.*15639A>G	SNV Germline	Chr5:148989072	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C	Criteria Provided Conflicting Classifications	CA128986896	rs_190478262	1 SubmittersRCV001155078 RCV001155079
NM_024577.4(SH3TC2):c.*11927T>C	SNV Germline	Chr5:148992784	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C	Criteria Provided Conflicting Classifications	CA128988280	rs_75711075	1 SubmittersRCV001154662 RCV001154661
NM_024577.4(SH3TC2):c.*11589C>T	SNV Germline	Chr5:148993122	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C	Criteria Provided Conflicting Classifications	CA128988414	rs_189059447	1 SubmittersRCV001155498 RCV001155499
NM_024577.4(SH3TC2):c.*11357G>A	SNV Germline	Chr5:148993354	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild	Criteria Provided Conflicting Classifications	CA128988532	rs_147502432	1 SubmittersRCV001151720 RCV001151721
NM_024577.4(SH3TC2):c.*9872T>C	SNV Germline	Chr5:148994839	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild	Criteria Provided Conflicting Classifications	CA128989222	rs_545698794	1 SubmittersRCV001152018 RCV001152019
NM_024577.4(SH3TC2):c.*7917A>G	SNV Germline	Chr5:148996794	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C	Criteria Provided Conflicting Classifications	CA128990064	rs_546816780	1 SubmittersRCV001156121 RCV001156120
NM_024577.4(SH3TC2):c.*5277G>T	SNV Germline	Chr5:148999434	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C	Criteria Provided Conflicting Classifications	CA128991355	rs_529868327	1 SubmittersRCV001153918 RCV001153917
NM_024577.4(SH3TC2):c.*3035C>A	SNV Germline	Chr5:149001676	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild	Criteria Provided Conflicting Classifications	CA128992682	rs_183531576	1 SubmittersRCV001155085 RCV001155084
NM_024577.4(SH3TC2):c.*3034A>C	SNV Germline	Chr5:149001677	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild	Criteria Provided Conflicting Classifications	CA128992683	rs_547028114	1 SubmittersRCV001155087 RCV001155086
NM_024577.4(SH3TC2):c.*1720T>A	SNV Germline	Chr5:149002991	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild	Criteria Provided Conflicting Classifications	CA128993554	rs_148473467	1 SubmittersRCV001155285 RCV001155284
NM_024577.4(SH3TC2):c.1797G>A (p.Leu599=)	SNV Germline	Chr5:149027935	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4	Criteria Provided Conflicting Classifications	CA128985027	rs_200332172	2 SubmittersRCV001153177 RCV001153178 RCV001417182
NM_024577.4(SH3TC2):c.1507G>A (p.Glu503Lys)	SNV Germline	Chr5:149028225	Conflicting classifications of pathogenicity	Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3499163	rs_78346510	3 SubmittersRCV001155782 RCV001155781 RCV002070916 RCV002393371
NM_024577.4(SH3TC2):c.3676-13A>G	SNV Germline	Chr5:149004915	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease type 4	Criteria Provided Conflicting Classifications	CA1139659191	rs_1753660598	2 SubmittersRCV001157182 RCV001157183 RCV002557340
NM_024577.4(SH3TC2):c.3650G>A (p.Gly1217Asp)	SNV Germline	Chr5:149006906	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4	Criteria Provided Conflicting Classifications	CA3498661	rs_758669363	3 SubmittersRCV001174026 RCV001526838 RCV001873630
NM_024577.4(SH3TC2):c.2095C>T (p.Gln699Ter)	SNV Germline	Chr5:149027637	Pathogenic	Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4C	Criteria Provided Multiple Submitters No Conflicts	CA361667093	rs_1754094644	2 SubmittersRCV001172826 RCV005409778
NM_024577.4(SH3TC2):c.383T>G (p.Leu128Ter)	SNV Germline	Chr5:149044535	Pathogenic	Charcot-Marie-Tooth disease type 4C	Criteria Provided Multiple Submitters No Conflicts	CA361676466	rs_1754425628	2 SubmittersRCV001332528
NM_024577.4(SH3TC2):c.2599C>T (p.Gln867Ter)	SNV Germline	Chr5:149027133	Pathogenic	Charcot-Marie-Tooth disease type 4C	Criteria Provided Single Submitter	CA361666036	rs_2127397072	1 SubmittersRCV001526837
NM_024577.4(SH3TC2):c.3627T>A (p.Tyr1209Ter)	SNV Germline	Chr5:149006929	Pathogenic	Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4C	Criteria Provided Multiple Submitters No Conflicts	CA361663980	rs_1248359114	2 SubmittersRCV001956024 RCV003388065
NM_024577.4(SH3TC2):c.731+2T>G	SNV Germline	Chr5:149041414	Pathogenic	Charcot-Marie-Tooth disease type 4C	Criteria Provided Single Submitter	CA361674207	rs_2127400622	1 SubmittersRCV002250351
NM_024577.4(SH3TC2):c.2577T>A (p.Tyr859Ter)	SNV Germline	Chr5:149027155	Likely pathogenic	Charcot-Marie-Tooth disease type 4C	Criteria Provided Single Submitter	CA3498968	rs_758871406	1 SubmittersRCV002272790
NM_024577.4(SH3TC2):c.1267G>T (p.Glu423Ter)	SNV Germline	Chr5:149028465	Pathogenic	Charcot-Marie-Tooth disease type 4C	No Assertion Criteria Provided	CA361669355	rs_2531774543	1 SubmittersRCV003129574
NM_024577.4(SH3TC2):c.1691A>G (p.Asp564Gly)	SNV Germline	Chr5:149028041	Pathogenic	Charcot-Marie-Tooth disease type 4C	No Assertion Criteria Provided	CA361667951	rs_1580900986	1 SubmittersRCV003227458
NM_024577.4(SH3TC2):c.731+1G>A	SNV Germline	Chr5:149041415	Likely pathogenic	Charcot-Marie-Tooth disease type 4C	Criteria Provided Single Submitter	CA361674216	rs_2531791358	1 SubmittersRCV003338058
NM_024577.4(SH3TC2):c.1834G>T (p.Glu612Ter)	SNV Germline	Chr5:149027898	Likely pathogenic	Charcot-Marie-Tooth disease type 4C	Criteria Provided Single Submitter	CA361667628	rs_2531773136	1 SubmittersRCV003444077
NM_024577.4(SH3TC2):c.1160C>T (p.Pro387Leu)	SNV Germline	Chr5:149028694	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild	Criteria Provided Conflicting Classifications	CA3499272	rs_149973463	2 SubmittersRCV003822914 RCV005392706
NM_024577.4(SH3TC2):c.416T>C (p.Leu139Pro)	SNV Germline	Chr5:149042807	Likely pathogenic	Charcot-Marie-Tooth disease type 4C	Criteria Provided Multiple Submitters No Conflicts	CA361676115	rs_2531793055	2 SubmittersRCV004547427
NM_024577.4(SH3TC2):c.1252C>T (p.Gln418Ter)	SNV Germline	Chr5:149028480	Likely pathogenic	Charcot-Marie-Tooth disease type 4C	Criteria Provided Single Submitter	CA128988613	rs_929383309	1 SubmittersRCV004547429
NM_024577.4(SH3TC2):c.1001+1G>A	SNV Germline	Chr5:149038294	Likely pathogenic	Charcot-Marie-Tooth disease type 4C	Criteria Provided Single Submitter	CA361672119	rs_2531787615	1 SubmittersRCV004554974
NM_024577.4(SH3TC2):c.2756T>G (p.Leu919Ter)	SNV Germline	Chr5:149026976	Likely pathogenic	Charcot-Marie-Tooth disease type 4C	Criteria Provided Single Submitter			1 SubmittersRCV004785879
NM_024577.4(SH3TC2):c.2305G>T (p.Glu769Ter)	SNV Germline	Chr5:149027427	Pathogenic	Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild	Criteria Provided Single Submitter			1 SubmittersRCV005043186
NM_024577.4(SH3TC2):c.734G>A (p.Trp245Ter)	SNV Germline	Chr5:149040675	Likely pathogenic	Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild	Criteria Provided Single Submitter			1 SubmittersRCV005035380
NM_024577.4(SH3TC2):c.136C>T (p.Gln46Ter)	SNV Germline	Chr5:149052157	Likely pathogenic	Charcot-Marie-Tooth disease type 4C Susceptibility to mononeuropathy of the median nerve, mild	Criteria Provided Single Submitter			1 SubmittersRCV005043189
NM_024577.4(SH3TC2):c.313C>T (p.Gln105Ter)	SNV Germline	Chr5:149044605	Likely pathogenic	Charcot-Marie-Tooth disease type 4C	Criteria Provided Single Submitter			1 SubmittersRCV005208317
NM_024577.4(SH3TC2):c.279+1G>T	SNV Germline	Chr5:149047861	Likely pathogenic	Charcot-Marie-Tooth disease type 4C	Criteria Provided Single Submitter			1 SubmittersRCV005229680

NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His)

SNV
Germline

Chr5:149028146

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Condition: not provided
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA339983

rs_80338923

7 SubmittersRCV000002582 RCV000998463 RCV000857152

NM_024577.4(SH3TC2):c.530-2A>G

SNV
Germline

Chr5:149041619

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease

No Assertion Criteria Provided

CA339987

rs_80338920

3 SubmittersRCV000002584 RCV000790209

NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter)

SNV
Germline

Chr5:149026903

Pathogenic

Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA339988

rs_80338932

7 SubmittersRCV000002585 RCV001223054 RCV001310527

NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)

SNV
Germline

Chr5:149026872

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
Condition: not provided
SH3TC2-related disorder
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
Inborn genetic diseases
Tip-toe gait

Criteria Provided
Multiple Submitters
No Conflicts

CA115573

rs_80338933

40 SubmittersRCV000002586 RCV000002587 RCV000144877 RCV000168436 RCV000255213 RCV000282937 RCV000515338 RCV000622836 RCV001851586

NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)

SNV
Germline

Chr5:149010272

Pathogenic

Charcot-Marie-Tooth disease type 4C
Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Multiple Submitters
No Conflicts

CA339991

rs_80338934

21 SubmittersRCV000002588 RCV000218266 RCV000654100 RCV000857137 RCV002496231

NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)

SNV
Germline

Chr5:149042718

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
7 conditions
Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
not specified
Tip-toe gait
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA115576

rs_80359890

20 SubmittersRCV000002591 RCV000002590 RCV000415264 RCV000656975 RCV001172848 RCV001079620 RCV001705579 RCV001293355 RCV002345223

NM_024577.4(SH3TC2):c.1178-1G>A

SNV
Germline

Chr5:149028555

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Multiple Submitters
No Conflicts

CA342371

rs_80338922

3 SubmittersRCV000020886 RCV000789563 RCV005042074

NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys)

SNV
Germline

Chr5:149027763

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Multiple Submitters
No Conflicts

CA339774

rs_80338925

9 SubmittersRCV000020887 RCV000857147 RCV004786278 RCV000206757 RCV002496432

NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)

SNV
Germline

Chr5:149027760

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4C
Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Susceptibility to mononeuropathy of the median nerve, mild
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA342372

rs_80338926

12 SubmittersRCV000020888 RCV000236498 RCV000654080 RCV001173151 RCV001270096 RCV002490399 RCV002415424

NM_024577.4(SH3TC2):c.2710C>T (p.Arg904Ter)

SNV
Germline

Chr5:149027022

Pathogenic

Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4
Condition: not provided
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Multiple Submitters
No Conflicts

CA339763

rs_80338931

7 SubmittersRCV000020894 RCV000205920 RCV002292457 RCV005042075

NM_024577.4(SH3TC2):c.3601C>T (p.Gln1201Ter)

SNV
Germline

Chr5:149006955

Pathogenic

Charcot-Marie-Tooth disease type 4C

Criteria Provided
Single Submitter

CA342388

rs_80338937

2 SubmittersRCV000020898

NM_024577.4(SH3TC2):c.645C>T (p.Ser215=)

SNV
Germline

Chr5:149041502

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
not specified
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
Inborn genetic diseases
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA289042

rs_80227512

7 SubmittersRCV000118339 RCV000203974 RCV000212999 RCV000301828 RCV001095080 RCV002362747 RCV001173902

NM_024577.4(SH3TC2):c.3550A>G (p.Met1184Val)

SNV
Germline

Chr5:149007006

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4C
Inborn genetic diseases
not specified
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA270944

rs_142451273

10 SubmittersRCV000144878 RCV000403900 RCV000465654 RCV000488069 RCV001094974 RCV002453463 RCV004998293 RCV005394500

NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val)

SNV
Germline

Chr5:149004892

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 4
Susceptibility to mononeuropathy of the median nerve, mild
Inborn genetic diseases
SH3TC2-related disorder
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA334024

rs_146920285

13 SubmittersRCV000237055 RCV000713265 RCV001082893 RCV001157181 RCV002453563 RCV004535140 RCV000789576 RCV000987610

NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His)

SNV
Germline

Chr5:149027870

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease
Inborn genetic diseases
not specified
Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
SH3TC2-related disorder

Criteria Provided
Conflicting Classifications

CA239663

rs_143032801

10 SubmittersRCV001157383 RCV001173837 RCV002408756 RCV000236423 RCV000724178 RCV001085590 RCV001157384 RCV004535197

NM_024577.4(SH3TC2):c.3315G>A (p.Val1105=)

SNV
Germline

Chr5:149010282

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4
not specified
Charcot-Marie-Tooth disease type 4C
Inborn genetic diseases
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA339546

rs_375970910

7 SubmittersRCV000297413 RCV000200778 RCV000516186 RCV001095068 RCV002453723 RCV001172844 RCV001705153

NM_024577.4(SH3TC2):c.1A>G (p.Met1Val)

SNV
Germline

Chr5:149063022

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Multiple Submitters
No Conflicts

CA339657

rs_864309709

3 SubmittersRCV000203275 RCV001045169 RCV005031774

NM_024577.4(SH3TC2):c.3813C>T (p.Ser1271=)

SNV
Germline

Chr5:149004765

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
not specified
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Inborn genetic diseases
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350004

rs_140985600

8 SubmittersRCV000205903 RCV000429860 RCV001095104 RCV000373351 RCV002354576 RCV001173203 RCV001711358

NM_024577.4(SH3TC2):c.3154C>T (p.Arg1052Ter)

SNV
Germline

Chr5:149012634

Pathogenic

Charcot-Marie-Tooth disease type 4
Condition: not provided
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease

Criteria Provided
Multiple Submitters
No Conflicts

CA349022

rs_370115218

4 SubmittersRCV000204837 RCV000578944 RCV002500652 RCV001172827

NM_024577.4(SH3TC2):c.2304C>T (p.Leu768=)

SNV
Germline

Chr5:149027428

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Inborn genetic diseases
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350032

rs_140829706

6 SubmittersRCV000205943 RCV001153076 RCV001153077 RCV002444829 RCV001172839 RCV001675671

NM_024577.4(SH3TC2):c.689T>C (p.Val230Ala)

SNV
Germline

Chr5:149041458

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
not specified
Susceptibility to mononeuropathy of the median nerve, mild
Condition: not provided
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease
Inborn genetic diseases
SH3TC2-related disorder

Criteria Provided
Conflicting Classifications

CA349654

rs_148634904

10 SubmittersRCV000205496 RCV000235753 RCV000289039 RCV000726668 RCV001095079 RCV001173160 RCV002372193 RCV004541285

NM_024577.4(SH3TC2):c.211C>T (p.Gln71Ter)

SNV
Germline

Chr5:149047930

Pathogenic

Charcot-Marie-Tooth disease type 4
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Multiple Submitters
No Conflicts

CA348045

rs_864622663

2 SubmittersRCV000203755 RCV005042449

NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro)

SNV
Germline

Chr5:149052156

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
not specified
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4C
Condition: not provided
SH3TC2-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA348097

rs_146162276

10 SubmittersRCV000203817 RCV000235858 RCV001153403 RCV000789697 RCV001153404 RCV001722118 RCV004530221 RCV002381703

NM_024577.4(SH3TC2):c.79A>G (p.Thr27Ala)

SNV
Germline

Chr5:149052214

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Susceptibility to mononeuropathy of the median nerve, mild
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
SH3TC2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA349459

rs_141649676

12 SubmittersRCV000205289 RCV000789695 RCV001156005 RCV002415868 RCV001081115 RCV001153405 RCV004530230 RCV004998431

NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln)

SNV
Germline

Chr5:149008949

Conflicting classifications of pathogenicity

Condition: not provided
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Delayed speech and language development
Pes cavus
Tip-toe gait
limited range of motion of the upper ankle
Charcot-Marie-Tooth disease
Tip-toe gait
Inborn genetic diseases
SH3TC2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA3498756

rs_139192433

13 SubmittersRCV000214292 RCV000355518 RCV000473910 RCV001095006 RCV001549281 RCV001173826 RCV001352888 RCV002450641 RCV004529380 RCV004998493

NM_024577.4(SH3TC2):c.2990G>A (p.Arg997Gln)

SNV
Germline

Chr5:149026635

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4C
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3498881

rs_140307699

7 SubmittersRCV000233589 RCV001173825 RCV001332526 RCV001697618 RCV002436039

NM_024577.4(SH3TC2):c.1245G>A (p.Gly415=)

SNV
Germline

Chr5:149028487

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499219

rs_748870159

4 SubmittersRCV000225941 RCV000355598 RCV001393032 RCV000859073 RCV002392718

NM_024577.4(SH3TC2):c.2954A>G (p.Glu985Gly)

SNV
Germline

Chr5:149026671

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4
Condition: not provided
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3498889

rs_575937427

8 SubmittersRCV000236841 RCV000477370 RCV000767114 RCV000765819 RCV001173155 RCV002436061

NM_024577.4(SH3TC2):c.2488G>T (p.Glu830Ter)

SNV
Germline

Chr5:149027244

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Multiple Submitters
No Conflicts

CA10584269

rs_879254317

2 SubmittersRCV000235715 RCV005031827

NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu)

SNV
Germline

Chr5:149028434

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
not specified
Inborn genetic diseases
Charcot-Marie-Tooth disease
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA3499208

rs_200967041

12 SubmittersRCV000558978 RCV000723677 RCV001157495 RCV001157494 RCV001706410 RCV002379107 RCV000789696 RCV003319193

NM_024577.4(SH3TC2):c.*21658A>G

SNV
Germline

Chr5:148983053

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA10619384

rs_145964634

1 SubmittersRCV000295687 RCV000348244

NM_024577.4(SH3TC2):c.*13465C>A

SNV
Germline

Chr5:148991246

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA10619458

rs_186009343

1 SubmittersRCV000309984 RCV000357774

NM_024577.4(SH3TC2):c.*10863C>T

SNV
Germline

Chr5:148993848

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA10619481

rs_181346624

1 SubmittersRCV000287675 RCV000351979

NM_024577.4(SH3TC2):c.*7006T>C

SNV
Germline

Chr5:148997705

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA10619514

rs_187720692

1 SubmittersRCV000308209 RCV000362853

NM_024577.4(SH3TC2):c.*5368C>T

SNV
Germline

Chr5:148999343

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA10619552

rs_189202481

1 SubmittersRCV000312808 RCV000367506

NM_024577.4(SH3TC2):c.*2500C>A

SNV
Germline

Chr5:149002211

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA10619575

rs_559833500

1 SubmittersRCV000264033 RCV000356510

NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=)

SNV
Germline

Chr5:149004783

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
not specified
Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease
Inborn genetic diseases
SH3TC2-related disorder

Criteria Provided
Conflicting Classifications

CA3498626

rs_144873879

12 SubmittersRCV000333938 RCV000419130 RCV000710218 RCV000555131 RCV001095105 RCV001172841 RCV002356484 RCV004530421

NM_024577.4(SH3TC2):c.2094C>T (p.Ile698=)

SNV
Germline

Chr5:149027638

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10619602

rs_886060196

2 SubmittersRCV000269573 RCV000327176 RCV002418211

NM_024577.4(SH3TC2):c.255C>T (p.Asp85=)

SNV
Germline

Chr5:149047886

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10619608

rs_886060199

2 SubmittersRCV000343436 RCV000377152 RCV002429314

NM_024577.4(SH3TC2):c.*14827T>A

SNV
Germline

Chr5:148989884

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA10620597

rs_569378409

1 SubmittersRCV000366906 RCV000391636

NM_024577.4(SH3TC2):c.*6392C>A

SNV
Germline

Chr5:148998319

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA10620679

rs_114817736

1 SubmittersRCV000300137 RCV000359615

NM_024577.4(SH3TC2):c.*5689A>C

SNV
Germline

Chr5:148999022

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA10620685

rs_537285537

1 SubmittersRCV000279647 RCV000316081

NM_024577.4(SH3TC2):c.*3058A>G

SNV
Germline

Chr5:149001653

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA10620711

rs_563916447

1 SubmittersRCV000284969 RCV000376990

NM_024577.4(SH3TC2):c.1105C>T (p.Arg369Cys)

SNV
Germline

Chr5:149031584

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3499292

rs_569974719

3 SubmittersRCV000290373 RCV000385782 RCV001094984 RCV005230271

NM_024577.4(SH3TC2):c.*19406A>G

SNV
Germline

Chr5:148985305

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA10623115

rs_72835351

1 SubmittersRCV000276857 RCV000313276

NM_024577.4(SH3TC2):c.*16257T>C

SNV
Germline

Chr5:148988454

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA10623134

rs_572081330

1 SubmittersRCV000303283 RCV000360312

NM_024577.4(SH3TC2):c.*10864G>A

SNV
Germline

Chr5:148993847

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10623238

rs_189701174

3 SubmittersRCV000327456 RCV000381991 RCV001785586

NM_024577.4(SH3TC2):c.*20773G>T

SNV
Germline

Chr5:148983938

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA10623268

rs_113020040

1 SubmittersRCV000293099 RCV000389542

NM_024577.4(SH3TC2):c.*882G>A

SNV
Germline

Chr5:149003829

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA3498589

rs_775429372

2 SubmittersRCV000273536 RCV000368125 RCV000857132

NM_024577.4(SH3TC2):c.*15235A>G

SNV
Germline

Chr5:148989476

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA10623333

rs_145210501

1 SubmittersRCV000278016 RCV000370222

NM_024577.4(SH3TC2):c.3600G>A (p.Leu1200=)

SNV
Germline

Chr5:149006956

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10623340

rs_886060195

2 SubmittersRCV000292382 RCV000386690 RCV002450926

NM_024577.4(SH3TC2):c.3303G>A (p.Arg1101=)

SNV
Germline

Chr5:149010294

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3498785

rs_755006924

2 SubmittersRCV000276203 RCV000370684 RCV002323557

NM_024577.4(SH3TC2):c.*13598A>G

SNV
Germline

Chr5:148991113

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA10623349

rs_141011337

1 SubmittersRCV000306299 RCV000400861

NM_024577.4(SH3TC2):c.1942C>T (p.Arg648Trp)

SNV
Germline

Chr5:149027790

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4
Hereditary motor and sensory neuropathy
Charcot-Marie-Tooth disease type 4C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3499088

rs_537049075

6 SubmittersRCV000268641 RCV000360932 RCV001030761 RCV001095110 RCV001706582

NM_024577.4(SH3TC2):c.1830G>A (p.Lys610=)

SNV
Germline

Chr5:149027902

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499112

rs_370025626

3 SubmittersRCV000351509 RCV000392955 RCV001482691 RCV002411247

NM_024577.4(SH3TC2):c.1814G>A (p.Arg605His)

SNV
Germline

Chr5:149027918

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA3499117

rs_186864272

3 SubmittersRCV000293064 RCV000349658 RCV001173887 RCV001094981

NM_024577.4(SH3TC2):c.549C>T (p.Ala183=)

SNV
Germline

Chr5:149041598

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499466

rs_147013935

7 SubmittersRCV000353171 RCV001095117 RCV001173200 RCV000654284 RCV001000996 RCV001584070 RCV002348106

NM_024577.4(SH3TC2):c.390C>T (p.Tyr130=)

SNV
Germline

Chr5:149042833

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499514

rs_776623792

3 SubmittersRCV000330936 RCV000383987 RCV002520333 RCV002374597

NM_024577.4(SH3TC2):c.285C>T (p.Leu95=)

SNV
Germline

Chr5:149044633

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Susceptibility to mononeuropathy of the median nerve, mild
not specified
Charcot-Marie-Tooth disease type 4C
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499547

rs_574669908

5 SubmittersRCV000273192 RCV000325802 RCV000421299 RCV001094986 RCV001815318 RCV002436215

NM_024577.4(SH3TC2):c.280-5C>T

SNV
Germline

Chr5:149044643

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4
not specified
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499549

rs_201937366

6 SubmittersRCV000286201 RCV000559399 RCV000605956 RCV001094987 RCV001173217 RCV002436216

NM_024577.4(SH3TC2):c.*10052C>T

SNV
Germline

Chr5:148994659

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10623373

rs_113802539

2 SubmittersRCV000346026 RCV000395736 RCV002221529

NM_024577.4(SH3TC2):c.*8111A>C

SNV
Germline

Chr5:148996600

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10623409

rs_17109205

2 SubmittersRCV000265443 RCV000327587 RCV001672653

NM_024577.4(SH3TC2):c.*6682G>C

SNV
Germline

Chr5:148998029

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA10623437

rs_557452648

1 SubmittersRCV000321902 RCV000376515

NM_024577.4(SH3TC2):c.*2248A>G

SNV
Germline

Chr5:149002463

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA10623508

rs_187399485

1 SubmittersRCV000278732 RCV000389471

NM_024577.4(SH3TC2):c.*1982C>A

SNV
Germline

Chr5:149002729

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA10623511

rs_535127091

1 SubmittersRCV000304767 RCV000395410

NM_024577.4(SH3TC2):c.1721A>G (p.Asn574Ser)

SNV
Germline

Chr5:149028011

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499137

rs_201256776

6 SubmittersRCV000310013 RCV000525499 RCV001095013 RCV001173167 RCV000490113 RCV002402071

NM_024577.4(SH3TC2):c.751C>T (p.Pro251Ser)

SNV
Germline

Chr5:149040658

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499401

rs_144963732

9 SubmittersRCV000416281 RCV001173823 RCV000654078 RCV001153291 RCV001153292 RCV002392943

NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser)

SNV
Germline

Chr5:149027090

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Condition: not provided
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Multiple Submitters
No Conflicts

CA3498953

rs_80338930

8 SubmittersRCV001353153 RCV000456313 RCV000789561 RCV000441336 RCV005033952

NM_024577.4(SH3TC2):c.1767C>T (p.Ser589=)

SNV
Germline

Chr5:149027965

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Condition: not provided
Charcot-Marie-Tooth disease type 4
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499130

rs_139898175

6 SubmittersRCV001153180 RCV000762175 RCV001081855 RCV001153179 RCV001172847 RCV002411399

NM_024577.4(SH3TC2):c.517C>A (p.Leu173Met)

SNV
Germline

Chr5:149042706

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499489

rs_147633804

6 SubmittersRCV000457307 RCV000992973 RCV001174034 RCV000765821 RCV002339147

NM_024577.4(SH3TC2):c.1585C>T (p.Arg529Cys)

SNV
Germline

Chr5:149028147

Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Multiple Submitters
No Conflicts

CA3499152

rs_750529207

3 SubmittersRCV000484690 RCV000792222 RCV004586727

NM_024577.4(SH3TC2):c.3676-8G>A

SNV
Germline

Chr5:149004910

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Multiple Submitters
No Conflicts

CA3498648

rs_772823083

7 SubmittersRCV000789578 RCV000489941 RCV000824889 RCV001851311 RCV005034026

NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys)

SNV
Germline

Chr5:149007045

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4
SH3TC2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA3498696

rs_759785462

12 SubmittersRCV000517446 RCV000790335 RCV000754746 RCV000805465 RCV003483649

NM_024577.4(SH3TC2):c.794C>T (p.Ser265Phe)

SNV
Germline

Chr5:149040615

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499391

rs_149873249

5 SubmittersRCV000520448 RCV000654163 RCV001332529 RCV002420317

NM_024577.4(SH3TC2):c.2528G>T (p.Gly843Val)

SNV
Germline

Chr5:149027204

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease
Condition: not provided
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Multiple Submitters
No Conflicts

CA361666180

rs_1463859150

5 SubmittersRCV000546073 RCV000765820 RCV001173153 RCV004592604 RCV004701650

NM_024577.4(SH3TC2):c.3034C>T (p.Arg1012Trp)

SNV
Germline

Chr5:149026591

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3498872

rs_541197556

3 SubmittersRCV000547987 RCV001157279 RCV001157280 RCV003488695

NM_024577.4(SH3TC2):c.2582G>A (p.Arg861Gln)

SNV
Germline

Chr5:149027150

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA3498964

rs_142971473

9 SubmittersRCV000534509 RCV002431715 RCV005398867 RCV000998462 RCV001173819 RCV003387882

NM_024577.4(SH3TC2):c.1431G>A (p.Glu477=)

SNV
Germline

Chr5:149028301

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA128988408

rs_887057321

4 SubmittersRCV000557796 RCV001155783 RCV001155784 RCV002473060 RCV002395481

NM_024577.4(SH3TC2):c.1002-7G>A

SNV
Germline

Chr5:149031694

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Condition: not provided
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA3499311

rs_752528409

4 SubmittersRCV000530936 RCV001152025 RCV001591302 RCV001152024

NM_024577.4(SH3TC2):c.2128C>T (p.Gln710Ter)

SNV
Germline

Chr5:149027604

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3499055

rs_753287764

3 SubmittersRCV000578528 RCV005034149 RCV005091454

NM_024577.4(SH3TC2):c.2017G>A (p.Ala673Thr)

SNV
Germline

Chr5:149027715

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3499076

rs_201985394

5 SubmittersRCV000654184 RCV002422422 RCV001155698 RCV001155699 RCV003126893

NM_024577.4(SH3TC2):c.2023G>A (p.Val675Ile)

SNV
Germline

Chr5:149027709

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA3499075

rs_764633604

3 SubmittersRCV000654061 RCV002422421 RCV005392246

NM_024577.4(SH3TC2):c.830C>T (p.Thr277Met)

SNV
Germline

Chr5:149038466

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4
Condition: not provided
Inborn genetic diseases
Susceptibility to mononeuropathy of the median nerve, mild
SH3TC2-related disorder

Criteria Provided
Conflicting Classifications

CA3499369

rs_757969875

7 SubmittersRCV000857157 RCV001153290 RCV000654173 RCV001092867 RCV002424545 RCV001153289 RCV004527713

NM_024577.4(SH3TC2):c.1403C>T (p.Ala468Val)

SNV
Germline

Chr5:149028329

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 4
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease
SH3TC2-related disorder

Criteria Provided
Conflicting Classifications

CA3499184

rs_6874630

9 SubmittersRCV000659031 RCV001089278 RCV001155785 RCV001155786 RCV001172836 RCV004544917

NM_024577.4(SH3TC2):c.929G>A (p.Gly310Glu)

SNV
Germline

Chr5:149038367

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Multiple Submitters
No Conflicts

CA3499347

rs_763949764

2 SubmittersRCV000698448 RCV005046954

NM_024577.4(SH3TC2):c.730C>T (p.Gln244Ter)

SNV
Germline

Chr5:149041417

Likely pathogenic

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Single Submitter

CA361674224

rs_1463786931

1 SubmittersRCV005036104

NM_024577.4(SH3TC2):c.3013G>T (p.Glu1005Ter)

SNV
Germline

Chr5:149026612

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Multiple Submitters
No Conflicts

CA361665126

rs_147895061

3 SubmittersRCV000789580 RCV003147547 RCV005036122

NM_024577.4(SH3TC2):c.2674C>T (p.Gln892Ter)

SNV
Germline

Chr5:149027058

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Multiple Submitters
No Conflicts

CA3498949

rs_757797985

4 SubmittersRCV000790210 RCV005092378 RCV005036123 RCV005253123

NM_024577.4(SH3TC2):c.1378C>T (p.Gln460Ter)

SNV
Germline

Chr5:149028354

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA361668970

rs_1580901350

4 SubmittersRCV002501035 RCV000789719 RCV001171314 RCV001048825

NM_024577.4(SH3TC2):c.58G>T (p.Glu20Ter)

SNV
Germline

Chr5:149052235

Pathogenic

Charcot-Marie-Tooth disease type 4C

No Assertion Criteria Provided

CA361681864

rs_1580917130

1 SubmittersRCV000790424

NM_024577.4(SH3TC2):c.2431C>T (p.Gln811Ter)

SNV
Germline

Chr5:149027301

Likely pathogenic

Charcot-Marie-Tooth disease type 4C

Criteria Provided
Single Submitter

CA361666380

rs_1580900150

1 SubmittersRCV000824888

NM_024577.4(SH3TC2):c.386-2A>C

SNV
Germline

Chr5:149042839

Pathogenic/Likely pathogenic

Distal spinal muscular atrophy
Charcot-Marie-Tooth disease type 4
Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Multiple Submitters
No Conflicts

CA3499515

rs_145670786

6 SubmittersRCV000857159 RCV001035277 RCV001556920 RCV002352497 RCV004789241 RCV005036240

NM_024577.4(SH3TC2):c.660G>C (p.Val220=)

SNV
Germline

Chr5:149041487

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA3499441

rs_202052720

3 SubmittersRCV000864216 RCV001155885 RCV001173888 RCV001155886

NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro)

SNV
Germline

Chr5:149012645

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA3498842

rs_537759361

7 SubmittersRCV000992972 RCV001173831 RCV001321191 RCV002320205 RCV005418949 RCV005036265

NM_024577.4(SH3TC2):c.1712T>C (p.Leu571Pro)

SNV
Germline

Chr5:149028020

Likely pathogenic

Charcot-Marie-Tooth disease type 4C

Criteria Provided
Single Submitter

CA361667885

rs_1580900970

1 SubmittersRCV001007463

NM_024577.4(SH3TC2):c.1856T>A (p.Val619Glu)

SNV
Germline

Chr5:149027876

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA361667583

rs_1196218767

3 SubmittersRCV001068642 RCV001760047 RCV003225146

NM_024577.4(SH3TC2):c.375C>A (p.Tyr125Ter)

SNV
Germline

Chr5:149044543

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4
Condition: not provided
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Multiple Submitters
No Conflicts

CA361676525

rs_1754425732

4 SubmittersRCV001044557 RCV002473175 RCV005036324

NM_024577.4(SH3TC2):c.805+2T>C

SNV
Germline

Chr5:149040602

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA128996448

rs_139052887

4 SubmittersRCV001092868 RCV002290598 RCV001216729

NM_024577.4(SH3TC2):c.*21149A>G

SNV
Germline

Chr5:148983562

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA128984606

rs_552963495

1 SubmittersRCV001157804 RCV001157803

NM_024577.4(SH3TC2):c.*20882A>G

SNV
Germline

Chr5:148983829

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA128984720

rs_112269889

1 SubmittersRCV001152332 RCV001152333

NM_024577.4(SH3TC2):c.*20787G>A

SNV
Germline

Chr5:148983924

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA128984781

rs_76578570

1 SubmittersRCV001153614 RCV001153615

NM_024577.4(SH3TC2):c.*15639A>G

SNV
Germline

Chr5:148989072

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA128986896

rs_190478262

1 SubmittersRCV001155078 RCV001155079

NM_024577.4(SH3TC2):c.*11927T>C

SNV
Germline

Chr5:148992784

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA128988280

rs_75711075

1 SubmittersRCV001154662 RCV001154661

NM_024577.4(SH3TC2):c.*11589C>T

SNV
Germline

Chr5:148993122

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA128988414

rs_189059447

1 SubmittersRCV001155498 RCV001155499

NM_024577.4(SH3TC2):c.*11357G>A

SNV
Germline

Chr5:148993354

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA128988532

rs_147502432

1 SubmittersRCV001151720 RCV001151721

NM_024577.4(SH3TC2):c.*9872T>C

SNV
Germline

Chr5:148994839

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA128989222

rs_545698794

1 SubmittersRCV001152018 RCV001152019

NM_024577.4(SH3TC2):c.*7917A>G

SNV
Germline

Chr5:148996794

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA128990064

rs_546816780

1 SubmittersRCV001156121 RCV001156120

NM_024577.4(SH3TC2):c.*5277G>T

SNV
Germline

Chr5:148999434

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Conflicting Classifications

CA128991355

rs_529868327

1 SubmittersRCV001153918 RCV001153917

NM_024577.4(SH3TC2):c.*3035C>A

SNV
Germline

Chr5:149001676

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA128992682

rs_183531576

1 SubmittersRCV001155085 RCV001155084

NM_024577.4(SH3TC2):c.*3034A>C

SNV
Germline

Chr5:149001677

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA128992683

rs_547028114

1 SubmittersRCV001155087 RCV001155086

NM_024577.4(SH3TC2):c.*1720T>A

SNV
Germline

Chr5:149002991

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA128993554

rs_148473467

1 SubmittersRCV001155285 RCV001155284

NM_024577.4(SH3TC2):c.1797G>A (p.Leu599=)

SNV
Germline

Chr5:149027935

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA128985027

rs_200332172

2 SubmittersRCV001153177 RCV001153178 RCV001417182

NM_024577.4(SH3TC2):c.1507G>A (p.Glu503Lys)

SNV
Germline

Chr5:149028225

Conflicting classifications of pathogenicity

Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3499163

rs_78346510

3 SubmittersRCV001155782 RCV001155781 RCV002070916 RCV002393371

NM_024577.4(SH3TC2):c.3676-13A>G

SNV
Germline

Chr5:149004915

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA1139659191

rs_1753660598

2 SubmittersRCV001157182 RCV001157183 RCV002557340

NM_024577.4(SH3TC2):c.3650G>A (p.Gly1217Asp)

SNV
Germline

Chr5:149006906

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA3498661

rs_758669363

3 SubmittersRCV001174026 RCV001526838 RCV001873630

NM_024577.4(SH3TC2):c.2095C>T (p.Gln699Ter)

SNV
Germline

Chr5:149027637

Pathogenic

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Multiple Submitters
No Conflicts

CA361667093

rs_1754094644

2 SubmittersRCV001172826 RCV005409778

NM_024577.4(SH3TC2):c.383T>G (p.Leu128Ter)

SNV
Germline

Chr5:149044535

Pathogenic

Charcot-Marie-Tooth disease type 4C

Criteria Provided
Multiple Submitters
No Conflicts

CA361676466

rs_1754425628

2 SubmittersRCV001332528

NM_024577.4(SH3TC2):c.2599C>T (p.Gln867Ter)

SNV
Germline

Chr5:149027133

Pathogenic

Charcot-Marie-Tooth disease type 4C

Criteria Provided
Single Submitter

CA361666036

rs_2127397072

1 SubmittersRCV001526837

NM_024577.4(SH3TC2):c.3627T>A (p.Tyr1209Ter)

SNV
Germline

Chr5:149006929

Pathogenic

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C

Criteria Provided
Multiple Submitters
No Conflicts

CA361663980

rs_1248359114

2 SubmittersRCV001956024 RCV003388065

NM_024577.4(SH3TC2):c.731+2T>G

SNV
Germline

Chr5:149041414

Pathogenic

Charcot-Marie-Tooth disease type 4C

Criteria Provided
Single Submitter

CA361674207

rs_2127400622

1 SubmittersRCV002250351

NM_024577.4(SH3TC2):c.2577T>A (p.Tyr859Ter)

SNV
Germline

Chr5:149027155

Likely pathogenic

Charcot-Marie-Tooth disease type 4C

Criteria Provided
Single Submitter

CA3498968

rs_758871406

1 SubmittersRCV002272790

NM_024577.4(SH3TC2):c.1267G>T (p.Glu423Ter)

SNV
Germline

Chr5:149028465

Pathogenic

Charcot-Marie-Tooth disease type 4C

No Assertion Criteria Provided

CA361669355

rs_2531774543

1 SubmittersRCV003129574

NM_024577.4(SH3TC2):c.1691A>G (p.Asp564Gly)

SNV
Germline

Chr5:149028041

Pathogenic

Charcot-Marie-Tooth disease type 4C

No Assertion Criteria Provided

CA361667951

rs_1580900986

1 SubmittersRCV003227458

NM_024577.4(SH3TC2):c.731+1G>A

SNV
Germline

Chr5:149041415

Likely pathogenic

Charcot-Marie-Tooth disease type 4C

Criteria Provided
Single Submitter

CA361674216

rs_2531791358

1 SubmittersRCV003338058

NM_024577.4(SH3TC2):c.1834G>T (p.Glu612Ter)

SNV
Germline

Chr5:149027898

Likely pathogenic

Charcot-Marie-Tooth disease type 4C

Criteria Provided
Single Submitter

CA361667628

rs_2531773136

1 SubmittersRCV003444077

NM_024577.4(SH3TC2):c.1160C>T (p.Pro387Leu)

SNV
Germline

Chr5:149028694

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Conflicting Classifications

CA3499272

rs_149973463

2 SubmittersRCV003822914 RCV005392706

NM_024577.4(SH3TC2):c.416T>C (p.Leu139Pro)

SNV
Germline

Chr5:149042807

Likely pathogenic

Charcot-Marie-Tooth disease type 4C

Criteria Provided
Multiple Submitters
No Conflicts

CA361676115

rs_2531793055

2 SubmittersRCV004547427

NM_024577.4(SH3TC2):c.1252C>T (p.Gln418Ter)

SNV
Germline

Chr5:149028480

Likely pathogenic

Charcot-Marie-Tooth disease type 4C

Criteria Provided
Single Submitter

CA128988613

rs_929383309

1 SubmittersRCV004547429

NM_024577.4(SH3TC2):c.1001+1G>A

SNV
Germline

Chr5:149038294

Likely pathogenic

Charcot-Marie-Tooth disease type 4C

Criteria Provided
Single Submitter

CA361672119

rs_2531787615

1 SubmittersRCV004554974

NM_024577.4(SH3TC2):c.2756T>G (p.Leu919Ter)

SNV
Germline

Chr5:149026976

Likely pathogenic

Charcot-Marie-Tooth disease type 4C

Criteria Provided
Single Submitter

1 SubmittersRCV004785879

NM_024577.4(SH3TC2):c.2305G>T (p.Glu769Ter)

SNV
Germline

Chr5:149027427

Pathogenic

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Single Submitter

1 SubmittersRCV005043186

NM_024577.4(SH3TC2):c.734G>A (p.Trp245Ter)

SNV
Germline

Chr5:149040675

Likely pathogenic

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Single Submitter

1 SubmittersRCV005035380

NM_024577.4(SH3TC2):c.136C>T (p.Gln46Ter)

SNV
Germline

Chr5:149052157

Likely pathogenic

Charcot-Marie-Tooth disease type 4C
Susceptibility to mononeuropathy of the median nerve, mild

Criteria Provided
Single Submitter

1 SubmittersRCV005043189

NM_024577.4(SH3TC2):c.313C>T (p.Gln105Ter)

SNV
Germline

Chr5:149044605

Likely pathogenic

Charcot-Marie-Tooth disease type 4C

Criteria Provided
Single Submitter

1 SubmittersRCV005208317

NM_024577.4(SH3TC2):c.279+1G>T

SNV
Germline

Chr5:149047861

Likely pathogenic

Charcot-Marie-Tooth disease type 4C

Criteria Provided
Single Submitter

1 SubmittersRCV005229680