Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001365088.1(SLC12A6):c.3031C>T (p.Arg1011Ter)	SNV Germline	Chr15:34236719	Pathogenic	Agenesis of the corpus callosum with peripheral neuropathy Condition: not provided See cases	Criteria Provided Multiple Submitters No Conflicts	CA340397	rs_121908427	10 SubmittersRCV000005652 RCV001045170 RCV002251882
NM_001365088.1(SLC12A6):c.2023C>T (p.Arg675Ter)	SNV Germline	Chr15:34243993	Pathogenic	Agenesis of the corpus callosum with peripheral neuropathy Condition: not provided SLC12A6-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA340402	rs_121908428	8 SubmittersRCV000005653 RCV001045904 RCV004730835
NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys)	SNV Germline	Chr15:34257713	Conflicting classifications of pathogenicity	Agenesis of the corpus callosum with peripheral neuropathy Charcot-Marie-Tooth disease Condition: not provided	Criteria Provided Conflicting Classifications	CA253467	rs_121908429	7 SubmittersRCV000005657 RCV000790223 RCV002512812
NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter)	SNV Germline	Chr15:34233934	Pathogenic/Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy Charcot-Marie-Tooth disease	Criteria Provided Multiple Submitters No Conflicts	CA259813	rs_606231229	5 SubmittersRCV000023393 RCV000790222
NM_017882.3(CLN6):c.486+8C>T	SNV Germline	Chr15:68211667	Conflicting classifications of pathogenicity	not specified Neuronal ceroid lipofuscinosis Condition: not provided Ceroid lipofuscinosis, neuronal, 6A Agenesis of the corpus callosum with peripheral neuropathy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA288745	rs_149692285	14 SubmittersRCV000116759 RCV000228160 RCV000675962 RCV000678439 RCV001258279 RCV002336251
NM_001365088.1(SLC12A6):c.1005C>T (p.Ile335=)	SNV Germline	Chr15:34254461	Conflicting classifications of pathogenicity	Agenesis of the corpus callosum with peripheral neuropathy Condition: not provided	Criteria Provided Conflicting Classifications	CA272471	rs_35855196	3 SubmittersRCV000147473 RCV001425291
NM_001365088.1(SLC12A6):c.379G>T (p.Glu127Ter)	SNV Germline	Chr15:34260958	Pathogenic/Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA272476	rs_199747285	5 SubmittersRCV000147487 RCV001385770
NM_001365088.1(SLC12A6):c.230C>G (p.Pro77Arg)	SNV Germline	Chr15:34336451	Conflicting classifications of pathogenicity	Condition: not provided Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Conflicting Classifications	CA239021	rs_369793136	5 SubmittersRCV000724345 RCV001275275
NM_001365088.1(SLC12A6):c.3249G>A (p.Arg1083=)	SNV Germline	Chr15:34235293	Conflicting classifications of pathogenicity	Condition: not provided Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Conflicting Classifications	CA7463879	rs_149640638	3 SubmittersRCV000404494 RCV001807212
NM_001365088.1(SLC12A6):c.*94G>C	SNV Germline	Chr15:34233787	Conflicting classifications of pathogenicity	Agenesis of the corpus callosum with peripheral neuropathy Condition: not provided	Criteria Provided Conflicting Classifications	CA10635818	rs_117540484	3 SubmittersRCV000344852 RCV004693209
NM_001365088.1(SLC12A6):c.2565G>A (p.Thr855=)	SNV Germline	Chr15:34239032	Conflicting classifications of pathogenicity	Agenesis of the corpus callosum with peripheral neuropathy Condition: not provided Inborn genetic diseases SLC12A6-related disorder	Criteria Provided Conflicting Classifications	CA7464063	rs_201062811	7 SubmittersRCV000361726 RCV000873507 RCV002429267 RCV003920322
NM_001365088.1(SLC12A6):c.1012C>T (p.Arg338Cys)	SNV Germline	Chr15:34254454	Conflicting classifications of pathogenicity	Agenesis of the corpus callosum with peripheral neuropathy Condition: not provided SLC12A6-related disorder	Criteria Provided Conflicting Classifications	CA7464420	rs_77122016	6 SubmittersRCV000395538 RCV000879703 RCV003957635
NM_001365088.1(SLC12A6):c.168G>A (p.Arg56=)	SNV Germline	Chr15:34336513	Conflicting classifications of pathogenicity	Agenesis of the corpus callosum with peripheral neuropathy Condition: not provided	Criteria Provided Conflicting Classifications	CA10635832	rs_886051056	2 SubmittersRCV000277667 RCV002056453
NM_001365088.1(SLC12A6):c.1943+15T>C	SNV Germline	Chr15:34245270	Conflicting classifications of pathogenicity	Agenesis of the corpus callosum with peripheral neuropathy Condition: not provided	Criteria Provided Conflicting Classifications	CA7464188	rs_200544602	2 SubmittersRCV000263362 RCV002056452
NM_001365088.1(SLC12A6):c.1118+4C>T	SNV Germline	Chr15:34254344	Conflicting classifications of pathogenicity	Agenesis of the corpus callosum with peripheral neuropathy Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA7464402	rs_773294017	5 SubmittersRCV000283765 RCV002520947 RCV003488530
NM_001365088.1(SLC12A6):c.964G>A (p.Gly322Ser)	SNV Germline	Chr15:34254502	Conflicting classifications of pathogenicity	Agenesis of the corpus callosum with peripheral neuropathy Condition: not provided	Criteria Provided Conflicting Classifications	CA7464432	rs_75235010	4 SubmittersRCV000354086 RCV001465714
NM_001365088.1(SLC12A6):c.3228-15T>C	SNV Germline	Chr15:34235329	Conflicting classifications of pathogenicity	Agenesis of the corpus callosum with peripheral neuropathy Condition: not provided	Criteria Provided Conflicting Classifications	CA7463883	rs_376575991	2 SubmittersRCV000396807 RCV002056451
NM_001365088.1(SLC12A6):c.1008C>T (p.Gly336=)	SNV Germline	Chr15:34254458	Conflicting classifications of pathogenicity	Agenesis of the corpus callosum with peripheral neuropathy Condition: not provided	Criteria Provided Conflicting Classifications	CA7464422	rs_770742608	3 SubmittersRCV000296857 RCV001438711
NM_001365088.1(SLC12A6):c.2385C>T (p.Val795=)	SNV Germline	Chr15:34240712	Conflicting classifications of pathogenicity	Agenesis of the corpus callosum with peripheral neuropathy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7464096	rs_562984167	5 SubmittersRCV000259958 RCV000945968 RCV003298375
NM_001365088.1(SLC12A6):c.1250A>G (p.Asn417Ser)	SNV Germline	Chr15:34252253	Conflicting classifications of pathogenicity	Agenesis of the corpus callosum with peripheral neuropathy Condition: not provided	Criteria Provided Conflicting Classifications	CA7464350	rs_199945338	6 SubmittersRCV000346835 RCV001508751
NM_001365088.1(SLC12A6):c.21C>T (p.Thr7=)	SNV Germline	Chr15:34336660	Conflicting classifications of pathogenicity	Agenesis of the corpus callosum with peripheral neuropathy Condition: not provided	Criteria Provided Conflicting Classifications	CA7464729	rs_146902000	4 SubmittersRCV000387268 RCV000913832
NM_001365088.1(SLC12A6):c.3227+1G>A	SNV Germline	Chr15:34236014	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041713	rs_1057516969	3 SubmittersRCV000412065 RCV001222890
NM_001365088.1(SLC12A6):c.2809C>T (p.Arg937Ter)	SNV Germline	Chr15:34237544	Pathogenic/Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041716	rs_1057516262	5 SubmittersRCV000409483 RCV002523846 RCV002523847
NM_001365088.1(SLC12A6):c.2803-1G>T	SNV Unknown	Chr15:34237551	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Single Submitter	CA16041717	rs_1057516378	1 SubmittersRCV000410487
NM_001365088.1(SLC12A6):c.2803-1G>C	SNV Unknown	Chr15:34237551	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Single Submitter	CA16041718	rs_1057516378	1 SubmittersRCV000409353
NM_001365088.1(SLC12A6):c.2632+1G>A	SNV Unknown	Chr15:34238964	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Single Submitter	CA16041719	rs_1057516925	1 SubmittersRCV000412124
NM_001365088.1(SLC12A6):c.2437-2A>G	SNV Germline	Chr15:34239162	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041720	rs_1057516337	3 SubmittersRCV000410684 RCV003114523
NM_001365088.1(SLC12A6):c.2416G>T (p.Glu806Ter)	SNV Unknown	Chr15:34240681	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Single Submitter	CA16041722	rs_1057516271	1 SubmittersRCV000409503
NM_001365088.1(SLC12A6):c.1118+1G>A	SNV Germline	Chr15:34254347	Pathogenic/Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy Charcot-Marie-Tooth disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7464403	rs_762730861	6 SubmittersRCV000412092 RCV000789681 RCV001090728
NM_001365088.1(SLC12A6):c.963C>A (p.Tyr321Ter)	SNV Germline	Chr15:34254503	Pathogenic/Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041723	rs_35583475	2 SubmittersRCV000409555 RCV003698783
NM_001365088.1(SLC12A6):c.655C>T (p.Gln219Ter)	SNV Unknown	Chr15:34257677	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Multiple Submitters No Conflicts	CA16041724	rs_1057516456	2 SubmittersRCV000409680
NM_001365088.1(SLC12A6):c.630G>A (p.Trp210Ter)	SNV Unknown	Chr15:34257702	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Single Submitter	CA16041725	rs_1057516898	1 SubmittersRCV000411505
NM_001365088.1(SLC12A6):c.298G>T (p.Glu100Ter)	SNV Germline	Chr15:34275363	Pathogenic/Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041727	rs_573444140	2 SubmittersRCV000409255 RCV001865260
NM_001365088.1(SLC12A6):c.1601A>G (p.Asn534Ser)	SNV Germline	Chr15:34250346	Conflicting classifications of pathogenicity	not specified Condition: not provided Agenesis of the corpus callosum with peripheral neuropathy Inborn genetic diseases SLC12A6-related disorder	Criteria Provided Conflicting Classifications	CA7464263	rs_778821191	6 SubmittersRCV000414753 RCV000872105 RCV001272574 RCV002402103 RCV003970092
NM_001365088.1(SLC12A6):c.1707A>G (p.Pro569=)	SNV Germline	Chr15:34245810	Conflicting classifications of pathogenicity	not specified Condition: not provided Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Conflicting Classifications	CA7464234	rs_764272139	4 SubmittersRCV000421841 RCV000980724 RCV001118911
NM_001365088.1(SLC12A6):c.1551G>A (p.Pro517=)	SNV Germline	Chr15:34250671	Conflicting classifications of pathogenicity	Condition: not provided Agenesis of the corpus callosum with peripheral neuropathy SLC12A6-related disorder	Criteria Provided Conflicting Classifications	CA7464283	rs_17236798	6 SubmittersRCV000871525 RCV001118913 RCV003959902
NM_001365088.1(SLC12A6):c.1164C>T (p.Asp388=)	SNV Germline	Chr15:34252339	Conflicting classifications of pathogenicity	Condition: not provided Agenesis of the corpus callosum with peripheral neuropathy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7464368	rs_145615604	8 SubmittersRCV000871210 RCV001115949 RCV002323595
NM_001365088.1(SLC12A6):c.2633-1G>A	SNV Unknown	Chr15:34238402	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Single Submitter		rs_1555377252	1 SubmittersRCV000665600
NM_001365088.1(SLC12A6):c.2162+1G>A	SNV Unknown	Chr15:34242101	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Single Submitter		rs_1555377971	1 SubmittersRCV000671644
NM_001365088.1(SLC12A6):c.2043-2A>G	SNV Germline	Chr15:34242223	Pathogenic/Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1372841592	3 SubmittersRCV000672572 RCV003727799
NM_001365088.1(SLC12A6):c.745+2T>A	SNV Germline	Chr15:34256227	Pathogenic/Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1555380998	3 SubmittersRCV000666234 RCV002530673
NM_001365088.1(SLC12A6):c.3346G>T (p.Glu1116Ter)	SNV Germline	Chr15:34235196	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy SLC12A6-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1555376688	3 SubmittersRCV000674726 RCV003403566
NM_001365088.1(SLC12A6):c.3337C>T (p.Arg1113Ter)	SNV Unknown	Chr15:34235205	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Single Submitter		rs_768514327	1 SubmittersRCV000670221
NM_001365088.1(SLC12A6):c.543+2T>G	SNV Germline	Chr15:34258811	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1555381538	2 SubmittersRCV000666946 RCV002530703
NM_001365088.1(SLC12A6):c.3361+2T>G	SNV Unknown	Chr15:34235179	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Single Submitter		rs_1555376682	1 SubmittersRCV000674008
NM_001365088.1(SLC12A6):c.1650-1G>C	SNV Unknown	Chr15:34245868	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Single Submitter		rs_1555378707	1 SubmittersRCV000670193
NM_001365088.1(SLC12A6):c.1139G>A (p.Arg380His)	SNV Germline	Chr15:34252364	Conflicting classifications of pathogenicity	Condition: not provided Agenesis of the corpus callosum with peripheral neuropathy SLC12A6-related disorder	Criteria Provided Conflicting Classifications		rs_375887656	5 SubmittersRCV000870854 RCV001272575 RCV003908268
NM_001365088.1(SLC12A6):c.966C>T (p.Gly322=)	SNV Germline	Chr15:34254500	Conflicting classifications of pathogenicity	Condition: not provided Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Conflicting Classifications		rs_142496698	4 SubmittersRCV000894901 RCV001115950
NM_001365088.1(SLC12A6):c.576C>T (p.Tyr192=)	SNV Germline	Chr15:34257756	Conflicting classifications of pathogenicity	Condition: not provided Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Conflicting Classifications		rs_774081365	3 SubmittersRCV000980199 RCV001117407
NM_001365088.1(SLC12A6):c.745+1G>T	SNV Unknown	Chr15:34256228	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	No Assertion Criteria Provided		rs_1595442984	1 SubmittersRCV001004403
NM_001365088.1(SLC12A6):c.337C>T (p.Arg113Ter)	SNV Germline	Chr15:34261000	Pathogenic/Likely pathogenic	Condition: not provided Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Multiple Submitters No Conflicts		rs_1054429141	2 SubmittersRCV001036766 RCV003473615
NM_001365088.1(SLC12A6):c.849C>T (p.Tyr283=)	SNV Germline	Chr15:34255289	Conflicting classifications of pathogenicity	Agenesis of the corpus callosum with peripheral neuropathy Condition: not provided	Criteria Provided Conflicting Classifications		rs_753466496	3 SubmittersRCV001117406 RCV001433317
NM_001365088.1(SLC12A6):c.2935-11G>C	SNV Germline	Chr15:34236826	Conflicting classifications of pathogenicity	Agenesis of the corpus callosum with peripheral neuropathy Condition: not provided	Criteria Provided Conflicting Classifications		rs_770370694	2 SubmittersRCV001117283 RCV003769157
NM_001365088.1(SLC12A6):c.316+1G>A	SNV Germline	Chr15:34275344	Likely pathogenic	Condition: not provided Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Multiple Submitters No Conflicts		rs_1462170681	5 SubmittersRCV001211340 RCV001330022
NM_001365088.1(SLC12A6):c.2230C>T (p.Arg744Ter)	SNV Germline	Chr15:34241270	Pathogenic/Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_751184319	3 SubmittersRCV001331364 RCV002546468
NM_001365088.1(SLC12A6):c.1151C>G (p.Ser384Ter)	SNV Unknown	Chr15:34252352	Pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Single Submitter		rs_1892451015	1 SubmittersRCV001331365
NM_001365088.1(SLC12A6):c.892C>T (p.Arg298Ter)	SNV Germline	Chr15:34254574	Pathogenic/Likely pathogenic	Condition: not provided Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Multiple Submitters No Conflicts		rs_897661402	2 SubmittersRCV001388687 RCV003473989
NM_001365088.1(SLC12A6):c.1591+3A>G	SNV Germline	Chr15:34250628	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	No Assertion Criteria Provided		rs_2140726249	1 SubmittersRCV002250428
NM_001365088.1(SLC12A6):c.316+6G>C	SNV Germline	Chr15:34275339	Conflicting classifications of pathogenicity	Agenesis of the corpus callosum with peripheral neuropathy Condition: not provided	Criteria Provided Conflicting Classifications		rs_1894227805	2 SubmittersRCV001802724 RCV002542354
NM_001365088.1(SLC12A6):c.3076C>T (p.Arg1026Ter)	SNV Unknown	Chr15:34236166	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Multiple Submitters No Conflicts		rs_752155450	2 SubmittersRCV002260549
NM_001365088.1(SLC12A6):c.2971A>G (p.Thr991Ala)	SNV Germline	Chr15:34236779	Likely pathogenic	Charcot-Marie-Tooth disease, axonal, IIa 2II Condition: not provided Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002287912 RCV003134422 RCV004801189
NM_001365088.1(SLC12A6):c.1151C>A (p.Ser384Ter)	SNV Unknown	Chr15:34252352	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Single Submitter			1 SubmittersRCV002306670
NM_001365088.1(SLC12A6):c.992T>A (p.Leu331Ter)	SNV Unknown	Chr15:34254474	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Single Submitter			1 SubmittersRCV002309551
NM_001365088.1(SLC12A6):c.1519G>T (p.Gly507Ter)	SNV Unknown	Chr15:34250703	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Single Submitter			1 SubmittersRCV002308053
NM_001365088.1(SLC12A6):c.1997T>A (p.Leu666Ter)	SNV Unknown	Chr15:34244019	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Single Submitter			1 SubmittersRCV002308126
NM_001365088.1(SLC12A6):c.3123T>A (p.Tyr1041Ter)	SNV Unknown	Chr15:34236119	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Single Submitter			1 SubmittersRCV002308305
NM_001365088.1(SLC12A6):c.2285T>A (p.Leu762Ter)	SNV Unknown	Chr15:34240812	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Single Submitter			1 SubmittersRCV002307185
NM_001365088.1(SLC12A6):c.526A>T (p.Lys176Ter)	SNV Unknown	Chr15:34258830	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Single Submitter			1 SubmittersRCV002307200
NM_001365088.1(SLC12A6):c.2002C>T (p.Arg668Ter)	SNV Germline	Chr15:34244014	Pathogenic/Likely pathogenic	Condition: not provided Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002776151 RCV003475421
NM_001365088.1(SLC12A6):c.2265G>A (p.Trp755Ter)	SNV Unknown	Chr15:34241235	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Single Submitter			1 SubmittersRCV003472735
NM_001365088.1(SLC12A6):c.1218G>A (p.Trp406Ter)	SNV Unknown	Chr15:34252285	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Single Submitter			1 SubmittersRCV003472739
NM_001365088.1(SLC12A6):c.391A>T (p.Lys131Ter)	SNV Unknown	Chr15:34260946	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Single Submitter			1 SubmittersRCV003472741
NM_001365088.1(SLC12A6):c.271+2T>C	SNV Germline	Chr15:34336408	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV003472744 RCV003542491
NM_001365088.1(SLC12A6):c.2272C>T (p.Gln758Ter)	SNV Germline	Chr15:34240825	Pathogenic/Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003472745 RCV003779113
NM_001365088.1(SLC12A6):c.1148C>A (p.Ser383Ter)	SNV Unknown	Chr15:34252355	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Single Submitter			1 SubmittersRCV003472746
NM_001365088.1(SLC12A6):c.589C>T (p.Gln197Ter)	SNV Unknown	Chr15:34257743	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Single Submitter			1 SubmittersRCV003472750
NM_001365088.1(SLC12A6):c.271+1G>A	SNV Germline	Chr15:34336409	Likely pathogenic	Condition: not provided Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003565200 RCV004574127
NM_001365088.1(SLC12A6):c.3061C>T (p.Arg1021Ter)	SNV Germline	Chr15:34236181	Pathogenic/Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004573245 RCV003710179
NM_001365088.1(SLC12A6):c.1118+1G>C	SNV Unknown	Chr15:34254347	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Single Submitter			1 SubmittersRCV004573590
NM_001365088.1(SLC12A6):c.3361+1G>C	SNV Unknown	Chr15:34235180	Pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Single Submitter			1 SubmittersRCV004573596
NM_001365088.1(SLC12A6):c.746-1G>A	SNV Unknown	Chr15:34255393	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Single Submitter			1 SubmittersRCV004573597
NM_001365088.1(SLC12A6):c.746-2A>G	SNV Unknown	Chr15:34255394	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Single Submitter			1 SubmittersRCV004573599
NM_001365088.1(SLC12A6):c.1825-1G>A	SNV Unknown	Chr15:34245404	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Single Submitter			1 SubmittersRCV004573600
NM_001365088.1(SLC12A6):c.1133G>T (p.Gly378Val)	SNV Germline	Chr15:34252370	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Single Submitter			1 SubmittersRCV004771404
NM_001365088.1(SLC12A6):c.690+6T>A	SNV Germline	Chr15:34257636	Pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	Criteria Provided Single Submitter			1 SubmittersRCV004771405

NM_001365088.1(SLC12A6):c.3031C>T (p.Arg1011Ter)

SNV
Germline

Chr15:34236719

Pathogenic

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA340397

rs_121908427

10 SubmittersRCV000005652 RCV001045170 RCV002251882

NM_001365088.1(SLC12A6):c.2023C>T (p.Arg675Ter)

SNV
Germline

Chr15:34243993

Pathogenic

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided
SLC12A6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA340402

rs_121908428

8 SubmittersRCV000005653 RCV001045904 RCV004730835

NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys)

SNV
Germline

Chr15:34257713

Conflicting classifications of pathogenicity

Agenesis of the corpus callosum with peripheral neuropathy
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA253467

rs_121908429

7 SubmittersRCV000005657 RCV000790223 RCV002512812

NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter)

SNV
Germline

Chr15:34233934

Pathogenic/Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy
Charcot-Marie-Tooth disease

Criteria Provided
Multiple Submitters
No Conflicts

CA259813

rs_606231229

5 SubmittersRCV000023393 RCV000790222

NM_017882.3(CLN6):c.486+8C>T

SNV
Germline

Chr15:68211667

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis
Condition: not provided
Ceroid lipofuscinosis, neuronal, 6A
Agenesis of the corpus callosum with peripheral neuropathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA288745

rs_149692285

14 SubmittersRCV000116759 RCV000228160 RCV000675962 RCV000678439 RCV001258279 RCV002336251

NM_001365088.1(SLC12A6):c.1005C>T (p.Ile335=)

SNV
Germline

Chr15:34254461

Conflicting classifications of pathogenicity

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA272471

rs_35855196

3 SubmittersRCV000147473 RCV001425291

NM_001365088.1(SLC12A6):c.379G>T (p.Glu127Ter)

SNV
Germline

Chr15:34260958

Pathogenic/Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA272476

rs_199747285

5 SubmittersRCV000147487 RCV001385770

NM_001365088.1(SLC12A6):c.230C>G (p.Pro77Arg)

SNV
Germline

Chr15:34336451

Conflicting classifications of pathogenicity

Condition: not provided
Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Conflicting Classifications

CA239021

rs_369793136

5 SubmittersRCV000724345 RCV001275275

NM_001365088.1(SLC12A6):c.3249G>A (p.Arg1083=)

SNV
Germline

Chr15:34235293

Conflicting classifications of pathogenicity

Condition: not provided
Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Conflicting Classifications

CA7463879

rs_149640638

3 SubmittersRCV000404494 RCV001807212

NM_001365088.1(SLC12A6):c.*94G>C

SNV
Germline

Chr15:34233787

Conflicting classifications of pathogenicity

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10635818

rs_117540484

3 SubmittersRCV000344852 RCV004693209

NM_001365088.1(SLC12A6):c.2565G>A (p.Thr855=)

SNV
Germline

Chr15:34239032

Conflicting classifications of pathogenicity

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided
Inborn genetic diseases
SLC12A6-related disorder

Criteria Provided
Conflicting Classifications

CA7464063

rs_201062811

7 SubmittersRCV000361726 RCV000873507 RCV002429267 RCV003920322

NM_001365088.1(SLC12A6):c.1012C>T (p.Arg338Cys)

SNV
Germline

Chr15:34254454

Conflicting classifications of pathogenicity

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided
SLC12A6-related disorder

Criteria Provided
Conflicting Classifications

CA7464420

rs_77122016

6 SubmittersRCV000395538 RCV000879703 RCV003957635

NM_001365088.1(SLC12A6):c.168G>A (p.Arg56=)

SNV
Germline

Chr15:34336513

Conflicting classifications of pathogenicity

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10635832

rs_886051056

2 SubmittersRCV000277667 RCV002056453

NM_001365088.1(SLC12A6):c.1943+15T>C

SNV
Germline

Chr15:34245270

Conflicting classifications of pathogenicity

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7464188

rs_200544602

2 SubmittersRCV000263362 RCV002056452

NM_001365088.1(SLC12A6):c.1118+4C>T

SNV
Germline

Chr15:34254344

Conflicting classifications of pathogenicity

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7464402

rs_773294017

5 SubmittersRCV000283765 RCV002520947 RCV003488530

NM_001365088.1(SLC12A6):c.964G>A (p.Gly322Ser)

SNV
Germline

Chr15:34254502

Conflicting classifications of pathogenicity

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7464432

rs_75235010

4 SubmittersRCV000354086 RCV001465714

NM_001365088.1(SLC12A6):c.3228-15T>C

SNV
Germline

Chr15:34235329

Conflicting classifications of pathogenicity

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7463883

rs_376575991

2 SubmittersRCV000396807 RCV002056451

NM_001365088.1(SLC12A6):c.1008C>T (p.Gly336=)

SNV
Germline

Chr15:34254458

Conflicting classifications of pathogenicity

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7464422

rs_770742608

3 SubmittersRCV000296857 RCV001438711

NM_001365088.1(SLC12A6):c.2385C>T (p.Val795=)

SNV
Germline

Chr15:34240712

Conflicting classifications of pathogenicity

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7464096

rs_562984167

5 SubmittersRCV000259958 RCV000945968 RCV003298375

NM_001365088.1(SLC12A6):c.1250A>G (p.Asn417Ser)

SNV
Germline

Chr15:34252253

Conflicting classifications of pathogenicity

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7464350

rs_199945338

6 SubmittersRCV000346835 RCV001508751

NM_001365088.1(SLC12A6):c.21C>T (p.Thr7=)

SNV
Germline

Chr15:34336660

Conflicting classifications of pathogenicity

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7464729

rs_146902000

4 SubmittersRCV000387268 RCV000913832

NM_001365088.1(SLC12A6):c.3227+1G>A

SNV
Germline

Chr15:34236014

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041713

rs_1057516969

3 SubmittersRCV000412065 RCV001222890

NM_001365088.1(SLC12A6):c.2809C>T (p.Arg937Ter)

SNV
Germline

Chr15:34237544

Pathogenic/Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041716

rs_1057516262

5 SubmittersRCV000409483 RCV002523846 RCV002523847

NM_001365088.1(SLC12A6):c.2803-1G>T

SNV
Unknown

Chr15:34237551

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Single Submitter

CA16041717

rs_1057516378

1 SubmittersRCV000410487

NM_001365088.1(SLC12A6):c.2803-1G>C

SNV
Unknown

Chr15:34237551

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Single Submitter

CA16041718

rs_1057516378

1 SubmittersRCV000409353

NM_001365088.1(SLC12A6):c.2632+1G>A

SNV
Unknown

Chr15:34238964

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Single Submitter

CA16041719

rs_1057516925

1 SubmittersRCV000412124

NM_001365088.1(SLC12A6):c.2437-2A>G

SNV
Germline

Chr15:34239162

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041720

rs_1057516337

3 SubmittersRCV000410684 RCV003114523

NM_001365088.1(SLC12A6):c.2416G>T (p.Glu806Ter)

SNV
Unknown

Chr15:34240681

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Single Submitter

CA16041722

rs_1057516271

1 SubmittersRCV000409503

NM_001365088.1(SLC12A6):c.1118+1G>A

SNV
Germline

Chr15:34254347

Pathogenic/Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7464403

rs_762730861

6 SubmittersRCV000412092 RCV000789681 RCV001090728

NM_001365088.1(SLC12A6):c.963C>A (p.Tyr321Ter)

SNV
Germline

Chr15:34254503

Pathogenic/Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041723

rs_35583475

2 SubmittersRCV000409555 RCV003698783

NM_001365088.1(SLC12A6):c.655C>T (p.Gln219Ter)

SNV
Unknown

Chr15:34257677

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Multiple Submitters
No Conflicts

CA16041724

rs_1057516456

2 SubmittersRCV000409680

NM_001365088.1(SLC12A6):c.630G>A (p.Trp210Ter)

SNV
Unknown

Chr15:34257702

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Single Submitter

CA16041725

rs_1057516898

1 SubmittersRCV000411505

NM_001365088.1(SLC12A6):c.298G>T (p.Glu100Ter)

SNV
Germline

Chr15:34275363

Pathogenic/Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041727

rs_573444140

2 SubmittersRCV000409255 RCV001865260

NM_001365088.1(SLC12A6):c.1601A>G (p.Asn534Ser)

SNV
Germline

Chr15:34250346

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Agenesis of the corpus callosum with peripheral neuropathy
Inborn genetic diseases
SLC12A6-related disorder

Criteria Provided
Conflicting Classifications

CA7464263

rs_778821191

6 SubmittersRCV000414753 RCV000872105 RCV001272574 RCV002402103 RCV003970092

NM_001365088.1(SLC12A6):c.1707A>G (p.Pro569=)

SNV
Germline

Chr15:34245810

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Conflicting Classifications

CA7464234

rs_764272139

4 SubmittersRCV000421841 RCV000980724 RCV001118911

NM_001365088.1(SLC12A6):c.1551G>A (p.Pro517=)

SNV
Germline

Chr15:34250671

Conflicting classifications of pathogenicity

Condition: not provided
Agenesis of the corpus callosum with peripheral neuropathy
SLC12A6-related disorder

Criteria Provided
Conflicting Classifications

CA7464283

rs_17236798

6 SubmittersRCV000871525 RCV001118913 RCV003959902

NM_001365088.1(SLC12A6):c.1164C>T (p.Asp388=)

SNV
Germline

Chr15:34252339

Conflicting classifications of pathogenicity

Condition: not provided
Agenesis of the corpus callosum with peripheral neuropathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7464368

rs_145615604

8 SubmittersRCV000871210 RCV001115949 RCV002323595

NM_001365088.1(SLC12A6):c.2633-1G>A

SNV
Unknown

Chr15:34238402

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Single Submitter

rs_1555377252

1 SubmittersRCV000665600

NM_001365088.1(SLC12A6):c.2162+1G>A

SNV
Unknown

Chr15:34242101

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Single Submitter

rs_1555377971

1 SubmittersRCV000671644

NM_001365088.1(SLC12A6):c.2043-2A>G

SNV
Germline

Chr15:34242223

Pathogenic/Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1372841592

3 SubmittersRCV000672572 RCV003727799

NM_001365088.1(SLC12A6):c.745+2T>A

SNV
Germline

Chr15:34256227

Pathogenic/Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555380998

3 SubmittersRCV000666234 RCV002530673

NM_001365088.1(SLC12A6):c.3346G>T (p.Glu1116Ter)

SNV
Germline

Chr15:34235196

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy
SLC12A6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555376688

3 SubmittersRCV000674726 RCV003403566

NM_001365088.1(SLC12A6):c.3337C>T (p.Arg1113Ter)

SNV
Unknown

Chr15:34235205

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Single Submitter

rs_768514327

1 SubmittersRCV000670221

NM_001365088.1(SLC12A6):c.543+2T>G

SNV
Germline

Chr15:34258811

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555381538

2 SubmittersRCV000666946 RCV002530703

NM_001365088.1(SLC12A6):c.3361+2T>G

SNV
Unknown

Chr15:34235179

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Single Submitter

rs_1555376682

1 SubmittersRCV000674008

NM_001365088.1(SLC12A6):c.1650-1G>C

SNV
Unknown

Chr15:34245868

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Single Submitter

rs_1555378707

1 SubmittersRCV000670193

NM_001365088.1(SLC12A6):c.1139G>A (p.Arg380His)

SNV
Germline

Chr15:34252364

Conflicting classifications of pathogenicity

Condition: not provided
Agenesis of the corpus callosum with peripheral neuropathy
SLC12A6-related disorder

Criteria Provided
Conflicting Classifications

rs_375887656

5 SubmittersRCV000870854 RCV001272575 RCV003908268

NM_001365088.1(SLC12A6):c.966C>T (p.Gly322=)

SNV
Germline

Chr15:34254500

Conflicting classifications of pathogenicity

Condition: not provided
Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Conflicting Classifications

rs_142496698

4 SubmittersRCV000894901 RCV001115950

NM_001365088.1(SLC12A6):c.576C>T (p.Tyr192=)

SNV
Germline

Chr15:34257756

Conflicting classifications of pathogenicity

Condition: not provided
Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Conflicting Classifications

rs_774081365

3 SubmittersRCV000980199 RCV001117407

NM_001365088.1(SLC12A6):c.745+1G>T

SNV
Unknown

Chr15:34256228

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

No Assertion Criteria Provided

rs_1595442984

1 SubmittersRCV001004403

NM_001365088.1(SLC12A6):c.337C>T (p.Arg113Ter)

SNV
Germline

Chr15:34261000

Pathogenic/Likely pathogenic

Condition: not provided
Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1054429141

2 SubmittersRCV001036766 RCV003473615

NM_001365088.1(SLC12A6):c.849C>T (p.Tyr283=)

SNV
Germline

Chr15:34255289

Conflicting classifications of pathogenicity

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_753466496

3 SubmittersRCV001117406 RCV001433317

NM_001365088.1(SLC12A6):c.2935-11G>C

SNV
Germline

Chr15:34236826

Conflicting classifications of pathogenicity

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_770370694

2 SubmittersRCV001117283 RCV003769157

NM_001365088.1(SLC12A6):c.316+1G>A

SNV
Germline

Chr15:34275344

Likely pathogenic

Condition: not provided
Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1462170681

5 SubmittersRCV001211340 RCV001330022

NM_001365088.1(SLC12A6):c.2230C>T (p.Arg744Ter)

SNV
Germline

Chr15:34241270

Pathogenic/Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_751184319

3 SubmittersRCV001331364 RCV002546468

NM_001365088.1(SLC12A6):c.1151C>G (p.Ser384Ter)

SNV
Unknown

Chr15:34252352

Pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Single Submitter

rs_1892451015

1 SubmittersRCV001331365

NM_001365088.1(SLC12A6):c.892C>T (p.Arg298Ter)

SNV
Germline

Chr15:34254574

Pathogenic/Likely pathogenic

Condition: not provided
Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Multiple Submitters
No Conflicts

rs_897661402

2 SubmittersRCV001388687 RCV003473989

NM_001365088.1(SLC12A6):c.1591+3A>G

SNV
Germline

Chr15:34250628

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

No Assertion Criteria Provided

rs_2140726249

1 SubmittersRCV002250428

NM_001365088.1(SLC12A6):c.316+6G>C

SNV
Germline

Chr15:34275339

Conflicting classifications of pathogenicity

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1894227805

2 SubmittersRCV001802724 RCV002542354

NM_001365088.1(SLC12A6):c.3076C>T (p.Arg1026Ter)

SNV
Unknown

Chr15:34236166

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Multiple Submitters
No Conflicts

rs_752155450

2 SubmittersRCV002260549

NM_001365088.1(SLC12A6):c.2971A>G (p.Thr991Ala)

SNV
Germline

Chr15:34236779

Likely pathogenic

Charcot-Marie-Tooth disease, axonal, IIa 2II
Condition: not provided
Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002287912 RCV003134422 RCV004801189

NM_001365088.1(SLC12A6):c.1151C>A (p.Ser384Ter)

SNV
Unknown

Chr15:34252352

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Single Submitter

1 SubmittersRCV002306670

NM_001365088.1(SLC12A6):c.992T>A (p.Leu331Ter)

SNV
Unknown

Chr15:34254474

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Single Submitter

1 SubmittersRCV002309551

NM_001365088.1(SLC12A6):c.1519G>T (p.Gly507Ter)

SNV
Unknown

Chr15:34250703

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Single Submitter

1 SubmittersRCV002308053

NM_001365088.1(SLC12A6):c.1997T>A (p.Leu666Ter)

SNV
Unknown

Chr15:34244019

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Single Submitter

1 SubmittersRCV002308126

NM_001365088.1(SLC12A6):c.3123T>A (p.Tyr1041Ter)

SNV
Unknown

Chr15:34236119

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Single Submitter

1 SubmittersRCV002308305

NM_001365088.1(SLC12A6):c.2285T>A (p.Leu762Ter)

SNV
Unknown

Chr15:34240812

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Single Submitter

1 SubmittersRCV002307185

NM_001365088.1(SLC12A6):c.526A>T (p.Lys176Ter)

SNV
Unknown

Chr15:34258830

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Single Submitter

1 SubmittersRCV002307200

NM_001365088.1(SLC12A6):c.2002C>T (p.Arg668Ter)

SNV
Germline

Chr15:34244014

Pathogenic/Likely pathogenic

Condition: not provided
Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002776151 RCV003475421

NM_001365088.1(SLC12A6):c.2265G>A (p.Trp755Ter)

SNV
Unknown

Chr15:34241235

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Single Submitter

1 SubmittersRCV003472735

NM_001365088.1(SLC12A6):c.1218G>A (p.Trp406Ter)

SNV
Unknown

Chr15:34252285

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Single Submitter

1 SubmittersRCV003472739

NM_001365088.1(SLC12A6):c.391A>T (p.Lys131Ter)

SNV
Unknown

Chr15:34260946

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Single Submitter

1 SubmittersRCV003472741

NM_001365088.1(SLC12A6):c.271+2T>C

SNV
Germline

Chr15:34336408

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003472744 RCV003542491

NM_001365088.1(SLC12A6):c.2272C>T (p.Gln758Ter)

SNV
Germline

Chr15:34240825

Pathogenic/Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003472745 RCV003779113

NM_001365088.1(SLC12A6):c.1148C>A (p.Ser383Ter)

SNV
Unknown

Chr15:34252355

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Single Submitter

1 SubmittersRCV003472746

NM_001365088.1(SLC12A6):c.589C>T (p.Gln197Ter)

SNV
Unknown

Chr15:34257743

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Single Submitter

1 SubmittersRCV003472750

NM_001365088.1(SLC12A6):c.271+1G>A

SNV
Germline

Chr15:34336409

Likely pathogenic

Condition: not provided
Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003565200 RCV004574127

NM_001365088.1(SLC12A6):c.3061C>T (p.Arg1021Ter)

SNV
Germline

Chr15:34236181

Pathogenic/Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004573245 RCV003710179

NM_001365088.1(SLC12A6):c.1118+1G>C

SNV
Unknown

Chr15:34254347

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Single Submitter

1 SubmittersRCV004573590

NM_001365088.1(SLC12A6):c.3361+1G>C

SNV
Unknown

Chr15:34235180

Pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Single Submitter

1 SubmittersRCV004573596

NM_001365088.1(SLC12A6):c.746-1G>A

SNV
Unknown

Chr15:34255393

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Single Submitter

1 SubmittersRCV004573597

NM_001365088.1(SLC12A6):c.746-2A>G

SNV
Unknown

Chr15:34255394

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Single Submitter

1 SubmittersRCV004573599

NM_001365088.1(SLC12A6):c.1825-1G>A

SNV
Unknown

Chr15:34245404

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Single Submitter

1 SubmittersRCV004573600

NM_001365088.1(SLC12A6):c.1133G>T (p.Gly378Val)

SNV
Germline

Chr15:34252370

Likely pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Single Submitter

1 SubmittersRCV004771404

NM_001365088.1(SLC12A6):c.690+6T>A

SNV
Germline

Chr15:34257636

Pathogenic

Agenesis of the corpus callosum with peripheral neuropathy

Criteria Provided
Single Submitter

1 SubmittersRCV004771405