Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_052867.4(NALCN):c.1924C>T (p.Gln642Ter)	SNV Germline	Chr13:101144812	Pathogenic	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	No Assertion Criteria Provided	CA144793	rs_587777038	1 SubmittersRCV000055644
NM_052867.4(NALCN):c.249G>A (p.Thr83=)	SNV Germline	Chr13:101395225	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA7036519	rs_145910377	2 SubmittersRCV001652964
NM_052867.4(NALCN):c.3860G>T (p.Trp1287Leu)	SNV Germline	Chr13:101081552	Pathogenic	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	No Assertion Criteria Provided	CA145297	rs_587777068	1 SubmittersRCV000074370
NM_052867.4(NALCN):c.530A>C (p.Gln177Pro)	SNV Germline	Chr13:101376814	Pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay	No Assertion Criteria Provided	CA198508	rs_786203984	2 SubmittersRCV000167528
NM_052867.4(NALCN):c.938T>G (p.Val313Gly)	SNV Germline	Chr13:101292228	Pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay	No Assertion Criteria Provided	CA198510	rs_786203985	2 SubmittersRCV000167529
NM_052867.4(NALCN):c.1768C>T (p.Leu590Phe)	SNV Germline	Chr13:101176371	Pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay	No Assertion Criteria Provided	CA198512	rs_786203986	2 SubmittersRCV000167530
NM_052867.4(NALCN):c.1526T>C (p.Leu509Ser)	SNV Germline	Chr13:101229493	Pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay	No Assertion Criteria Provided	CA198514	rs_786203987	2 SubmittersRCV000167531
NM_052867.4(NALCN):c.1733A>C (p.Tyr578Ser)	SNV Germline	Chr13:101191948	Pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay Condition: not provided	Criteria Provided Single Submitter	CA198516	rs_786203988	3 SubmittersRCV000167532 RCV000483507
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln)	SNV Germline	Chr13:101083752	Pathogenic/Likely pathogenic	Intellectual disability with episodic ataxia and congenital arthrogryposis Congenital contractures of the limbs and face, hypotonia, and developmental delay Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA212642	rs_786201003	9 SubmittersRCV000167764 RCV000224736 RCV001267339 RCV001390781
NM_052867.4(NALCN):c.3390G>A (p.Pro1130=)	SNV Germline	Chr13:101089846	Pathogenic	Strabismus Seizure Abnormal pattern of respiration Cachexia Intellectual disability, severe	Criteria Provided Single Submitter	CA354081	rs_869312873	1 SubmittersRCV000210426
NM_052867.4(NALCN):c.4197+1G>A	SNV Germline	Chr13:101073583	Pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA358195	rs_869312952	1 SubmittersRCV000210682
NM_052867.4(NALCN):c.2203C>T (p.Arg735Ter)	SNV Germline	Chr13:101111216	Pathogenic	Inborn genetic diseases Condition: not provided Congenital contractures of the limbs and face, hypotonia, and developmental delay	Criteria Provided Multiple Submitters No Conflicts	CA358082	rs_757674263	4 SubmittersRCV000210615 RCV003238738 RCV003984831
NM_052867.4(NALCN):c.4338T>G (p.Ile1446Met)	SNV Germline	Chr13:101068026	Pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay	No Assertion Criteria Provided	CA10581441	rs_878853127	1 SubmittersRCV000224385
NM_052867.4(NALCN):c.3493A>C (p.Thr1165Pro)	SNV Germline	Chr13:101083801	Likely pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay Condition: not provided	Criteria Provided Single Submitter	CA10581442	rs_878853128	2 SubmittersRCV000224193 RCV005401386
NM_052867.4(NALCN):c.3050T>C (p.Ile1017Thr)	SNV Germline	Chr13:101103179	Pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay	No Assertion Criteria Provided	CA10581443	rs_878853129	1 SubmittersRCV000224534
NM_052867.4(NALCN):c.3017T>C (p.Val1006Ala)	SNV Germline	Chr13:101103212	Pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay Condition: not provided	Criteria Provided Single Submitter	CA10581444	rs_878853130	2 SubmittersRCV000224757 RCV005623320
NM_052867.4(NALCN):c.1538C>A (p.Thr513Asn)	SNV Germline	Chr13:101229481	Pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay	No Assertion Criteria Provided	CA10581445	rs_878853131	1 SubmittersRCV000224900
NM_052867.4(NALCN):c.1534T>G (p.Phe512Val)	SNV Germline	Chr13:101229485	Pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay	No Assertion Criteria Provided	CA10581446	rs_878853132	1 SubmittersRCV000224242
NM_052867.4(NALCN):c.979G>A (p.Glu327Lys)	SNV Germline	Chr13:101292058	Pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay	No Assertion Criteria Provided	CA10581447	rs_878853133	1 SubmittersRCV000224921
NM_052867.4(NALCN):c.934C>A (p.Leu312Ile)	SNV Germline	Chr13:101292232	Pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay	No Assertion Criteria Provided	CA10581448	rs_878853134	1 SubmittersRCV000224612
NM_052867.4(NALCN):c.3448C>G (p.Leu1150Val)	SNV Germline	Chr13:101089704	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388652630	rs_1555378616	1 SubmittersRCV000497724
NM_052867.4(NALCN):c.1745A>C (p.Tyr582Ser)	SNV Germline	Chr13:101191936	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388703399	rs_1555309004	1 SubmittersRCV000497530
NM_052867.4(NALCN):c.1733A>G (p.Tyr578Cys)	SNV Germline	Chr13:101191948	Pathogenic/Likely pathogenic	Condition: not provided Congenital contractures of the limbs and face, hypotonia, and developmental delay Arthrogryposis syndrome	Criteria Provided Multiple Submitters No Conflicts	CA388703427	rs_786203988	6 SubmittersRCV000498669 RCV001254037 RCV005625484
NM_052867.4(NALCN):c.985A>G (p.Arg329Gly)	SNV Germline	Chr13:101292052	Likely pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay	Criteria Provided Single Submitter	CA10654765	rs_1057516040	1 SubmittersRCV000408614
NM_052867.4(NALCN):c.1639A>G (p.Met547Val)	SNV Germline	Chr13:101192042	Likely pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay	Criteria Provided Multiple Submitters No Conflicts	CA16044231	rs_1057519432	3 SubmittersRCV000416437
NM_052867.4(NALCN):c.965T>C (p.Ile322Thr)	SNV Germline	Chr13:101292072	Pathogenic/Likely pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA16044232	rs_1057519433	4 SubmittersRCV000416463 RCV001092912 RCV002521493
NM_052867.4(NALCN):c.2008C>T (p.Gln670Ter)	SNV Germline	Chr13:101143190	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16606743	rs_972964381	1 SubmittersRCV000423757
NM_052867.4(NALCN):c.1776T>G (p.Ser592Arg)	SNV Germline	Chr13:101176363	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16619608	rs_1064795423	1 SubmittersRCV000486031
NM_052867.4(NALCN):c.1673A>G (p.Asp558Gly)	SNV Germline	Chr13:101192008	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16619609	rs_1064794722	1 SubmittersRCV000483143
NM_052867.4(NALCN):c.3903G>A (p.Met1301Ile)	SNV Germline	Chr13:101075924	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388649768	rs_1555375944	1 SubmittersRCV000498585
NM_052867.4(NALCN):c.2483A>G (p.Glu828Gly)	SNV Germline	Chr13:101107583	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388670410	rs_1555383003	1 SubmittersRCV000519871
NM_052867.4(NALCN):c.4330+5G>A	SNV Germline	Chr13:101068690	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA7035156	rs_763237578	1 SubmittersRCV000579183
NM_052867.4(NALCN):c.2563C>T (p.Arg855Ter)	SNV Germline	Chr13:101107503	Pathogenic	Inborn genetic diseases Condition: not provided Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 NALCN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA7035672	rs_376152742	6 SubmittersRCV000623970 RCV000578635 RCV001090146 RCV005250079
NM_052867.4(NALCN):c.306T>G (p.Tyr102Ter)	SNV Germline	Chr13:101378639	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388706023	rs_527789070	1 SubmittersRCV000578588
NM_052867.4(NALCN):c.4977C>G (p.Asp1659Glu)	SNV Germline	Chr13:101057985	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases NALCN-related disorder	Criteria Provided Conflicting Classifications	CA7034957	rs_78817184	5 SubmittersRCV000595285 RCV004955705 RCV004530718
NM_052867.4(NALCN):c.3064A>G (p.Ile1022Val)	SNV Germline	Chr13:101100882	Conflicting classifications of pathogenicity	Congenital contractures of the limbs and face, hypotonia, and developmental delay	Criteria Provided Conflicting Classifications	CA388654881	rs_1555381108	2 SubmittersRCV000622774
NM_052867.4(NALCN):c.4755+1G>T	SNV Germline	Chr13:101061967	Pathogenic/Likely pathogenic	Inborn genetic diseases Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 Congenital contractures of the limbs and face, hypotonia, and developmental delay Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388644323	rs_1158141270	3 SubmittersRCV000624599 RCV000763319 RCV001561737
NM_052867.4(NALCN):c.4605-1G>C	SNV Germline	Chr13:101062119	Likely pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA388644757	rs_1555373511	1 SubmittersRCV000623887
NM_052867.4(NALCN):c.4236C>A (p.Tyr1412Ter)	SNV Germline	Chr13:101068789	Pathogenic	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	Criteria Provided Single Submitter	CA388647502	rs_1158771233	1 SubmittersRCV000625918
NM_052867.4(NALCN):c.3269G>A (p.Trp1090Ter)	SNV Unknown	Chr13:101095574	Pathogenic	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	Criteria Provided Single Submitter	CA388653333	rs_1555379886	1 SubmittersRCV000625775
NM_052867.4(NALCN):c.3490-2A>G	SNV Germline	Chr13:101083806	Pathogenic/Likely pathogenic	Condition: not provided Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	Criteria Provided Multiple Submitters No Conflicts	CA388652019	rs_1333710212	2 SubmittersRCV000658033 RCV005357875
NM_052867.4(NALCN):c.1800C>A (p.Asp600Glu)	SNV Germline	Chr13:101176339	Likely pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay	No Assertion Criteria Provided	CA388702883	rs_1566385468	1 SubmittersRCV000768409
NM_052867.4(NALCN):c.1571G>A (p.Ser524Asn)	SNV Germline	Chr13:101229448	Likely pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay	No Assertion Criteria Provided	CA388704313	rs_1566460907	1 SubmittersRCV000768410
NM_052867.4(NALCN):c.2947C>T (p.Gln983Ter)	SNV Germline	Chr13:101103282	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388669343	rs_1566815386	1 SubmittersRCV000760874
NM_052867.4(NALCN):c.475C>T (p.Arg159Ter)	SNV Germline	Chr13:101376957	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA256080658	rs_771015295	1 SubmittersRCV000760873
NM_052867.4(NALCN):c.4333A>T (p.Ile1445Leu)	SNV Germline	Chr13:101068031	Pathogenic	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	No Assertion Criteria Provided	CA388646805	rs_1459166839	1 SubmittersRCV000845223
NM_052867.4(NALCN):c.4281C>A (p.Phe1427Leu)	SNV Germline	Chr13:101068744	Pathogenic	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	No Assertion Criteria Provided	CA388647226	rs_1594134160	1 SubmittersRCV000845219
NM_052867.4(NALCN):c.4150C>T (p.Arg1384Ter)	SNV Germline	Chr13:101073631	Pathogenic	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 NALCN-related disorder Congenital contractures of the limbs and face, hypotonia, and developmental delay	Criteria Provided Multiple Submitters No Conflicts	CA255402342	rs_1031314447	3 SubmittersRCV000845225 RCV003336223 RCV003984848
NM_052867.4(NALCN):c.3556C>T (p.Gln1186Ter)	SNV Germline	Chr13:101083738	Pathogenic	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	No Assertion Criteria Provided	CA388651789	rs_1594168638	1 SubmittersRCV000845221
NM_052867.4(NALCN):c.3022C>T (p.Arg1008Ter)	SNV Germline	Chr13:101103207	Pathogenic	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7035523	rs_766421214	3 SubmittersRCV000845216 RCV002269323
NM_052867.4(NALCN):c.321G>A (p.Trp107Ter)	SNV Germline	Chr13:101378624	Pathogenic	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	No Assertion Criteria Provided	CA388705989	rs_1594761911	1 SubmittersRCV000845226
NM_052867.4(NALCN):c.4103+2T>C	SNV Germline	Chr13:101074512	Pathogenic	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	No Assertion Criteria Provided	CA388649290	rs_1594146891	1 SubmittersRCV000845220
NM_052867.4(NALCN):c.1799A>G (p.Asp600Gly)	SNV Germline	Chr13:101176340	Pathogenic/Likely pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay NALCN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA388702886	rs_1594368726	2 SubmittersRCV000853279 RCV004538169
NM_052867.4(NALCN):c.1783G>T (p.Val595Phe)	SNV Germline	Chr13:101176356	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA388702919	rs_1594368753	1 SubmittersRCV000855468
NM_052867.4(NALCN):c.950T>G (p.Phe317Cys)	SNV Germline	Chr13:101292087	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA388704839	rs_1594616249	1 SubmittersRCV000855467
NM_052867.4(NALCN):c.191A>G (p.Tyr64Cys)	SNV Unknown	Chr13:101395283	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA7036526	rs_762389271	1 SubmittersRCV000855469
NM_052867.4(NALCN):c.1115G>A (p.Arg372His)	SNV Germline	Chr13:101283952	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided NALCN-related disorder	Criteria Provided Conflicting Classifications	CA7036310	rs_75772824	5 SubmittersRCV002536263 RCV000864727 RCV004538224
NM_052867.4(NALCN):c.3852C>A (p.Gly1284=)	SNV Germline	Chr13:101081560	Conflicting classifications of pathogenicity	Condition: not provided NALCN-related disorder	Criteria Provided Conflicting Classifications	CA7035278	rs_772803115	3 SubmittersRCV000877305 RCV004530867
NM_052867.4(NALCN):c.103A>G (p.Lys35Glu)	SNV Germline	Chr13:101399024	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7036565	rs_79047578	3 SubmittersRCV000872953 RCV004958218
NM_052867.4(NALCN):c.1765-6T>G	SNV Germline	Chr13:101176380	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA7036070	rs_370198465	2 SubmittersRCV000876682
NM_052867.4(NALCN):c.883C>T (p.Arg295Cys)	SNV Germline	Chr13:101292283	Conflicting classifications of pathogenicity	Condition: not provided Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	Criteria Provided Conflicting Classifications	CA7036362	rs_372035044	3 SubmittersRCV000965928 RCV000985034
NM_052867.4(NALCN):c.2495A>G (p.Tyr832Cys)	SNV Germline	Chr13:101107571	Conflicting classifications of pathogenicity	Condition: not provided not specified NALCN-related disorder	Criteria Provided Conflicting Classifications	CA7035689	rs_549182297	5 SubmittersRCV000934218 RCV001731981 RCV004533590
NM_052867.4(NALCN):c.3533T>C (p.Leu1178Pro)	SNV Germline	Chr13:101083761	Likely pathogenic	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	No Assertion Criteria Provided	CA388651864	rs_1594168705	1 SubmittersRCV000985067
NM_052867.4(NALCN):c.3843G>A (p.Thr1281=)	SNV Germline	Chr13:101081569	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA7035283	rs_151200877	3 SubmittersRCV000995073
NM_052867.4(NALCN):c.3448C>A (p.Leu1150Ile)	SNV Germline	Chr13:101089704	Pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388652631	rs_1555378616	2 SubmittersRCV001007895 RCV001732011
NM_052867.4(NALCN):c.2579+5G>A	SNV Germline	Chr13:101107482	Conflicting classifications of pathogenicity	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA959539294	rs_2035187622	3 SubmittersRCV001090147 RCV002286810 RCV002555935
NM_052867.4(NALCN):c.2242G>A (p.Ala748Thr)	SNV Germline	Chr13:101111177	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7035778	rs_77946954	4 SubmittersRCV001092083 RCV002555955
NM_052867.4(NALCN):c.1434+1G>A	SNV Germline	Chr13:101237754	Pathogenic/Likely pathogenic	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 Abnormality of the nervous system	Criteria Provided Multiple Submitters No Conflicts	CA388702972	rs_2041614157	2 SubmittersRCV001169972 RCV001814276
NM_052867.4(NALCN):c.3577C>T (p.Arg1193Cys)	SNV Germline	Chr13:101083717	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388651715	rs_1387780751	1 SubmittersRCV001200391
NM_052867.4(NALCN):c.3059T>C (p.Val1020Ala)	SNV Germline	Chr13:101100887	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388654905	rs_2034773072	1 SubmittersRCV001200392
NM_052867.4(NALCN):c.4355T>C (p.Leu1452Ser)	SNV Germline	Chr13:101068009	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA388646676	rs_2032560672	2 SubmittersRCV001266781 RCV004719124
NM_052867.4(NALCN):c.986G>C (p.Arg329Thr)	SNV Germline	Chr13:101292051	Likely pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA388704761	rs_2043574947	1 SubmittersRCV001266253
NM_052867.4(NALCN):c.3522A>T (p.Arg1174Ser)	SNV Germline	Chr13:101083772	Pathogenic/Likely pathogenic	Condition: not provided Congenital contractures of the limbs and face, hypotonia, and developmental delay	Criteria Provided Multiple Submitters No Conflicts	CA388651903	rs_2033787523	2 SubmittersRCV001268880 RCV002464434
NM_052867.4(NALCN):c.1756G>C (p.Ala586Pro)	SNV Germline	Chr13:101191925	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388703370	rs_2039698499	1 SubmittersRCV001281638
NM_052867.4(NALCN):c.943-1G>C	SNV Germline	Chr13:101292095	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388704860	rs_2043576660	1 SubmittersRCV001311349
NM_052867.4(NALCN):c.946G>A (p.Val316Met)	SNV Germline	Chr13:101292091	Conflicting classifications of pathogenicity	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 Congenital contractures of the limbs and face, hypotonia, and developmental delay Condition: not provided	Criteria Provided Conflicting Classifications	CA388704849	rs_1463184766	3 SubmittersRCV001330243 RCV005232273 RCV005414594
NM_052867.4(NALCN):c.2266G>A (p.Val756Met)	SNV Germline	Chr13:101111153	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7035772	rs_149203278	3 SubmittersRCV001471087 RCV002561953
NM_052867.4(NALCN):c.1313G>A (p.Trp438Ter)	SNV Germline	Chr13:101237876	Pathogenic	Abnormality of the nervous system	Criteria Provided Single Submitter	CA388703243	rs_2140156819	1 SubmittersRCV001814347
NM_052867.4(NALCN):c.3058-11A>G	SNV Germline	Chr13:101100899	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA7035499	rs_201506269	2 SubmittersRCV001546110
NM_052867.4(NALCN):c.1517T>A (p.Leu506His)	SNV Germline	Chr13:101229502	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388704428	rs_2140132909	1 SubmittersRCV001555019
NM_052867.4(NALCN):c.3983T>G (p.Val1328Gly)	SNV Germline	Chr13:101074634	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388649568	rs_2139471715	1 SubmittersRCV001562007
NM_052867.4(NALCN):c.2524C>T (p.Arg842Ter)	SNV Germline	Chr13:101107542	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA7035681	rs_779930597	1 SubmittersRCV001567115
NM_052867.4(NALCN):c.722C>T (p.Pro241Leu)	SNV Germline	Chr13:101345343	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA7036387	rs_764444847	2 SubmittersRCV001567988
NM_052867.4(NALCN):c.5098G>A (p.Val1700Met)	SNV Germline	Chr13:101055414	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA7034916	rs_761894809	2 SubmittersRCV001576609
NM_052867.4(NALCN):c.5065C>T (p.Arg1689Trp)	SNV Germline	Chr13:101055447	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7034924	rs_200731653	3 SubmittersRCV001575089 RCV005438994
NM_052867.4(NALCN):c.2307T>G (p.His769Gln)	SNV Germline	Chr13:101110676	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractures of the limbs and face, hypotonia, and developmental delay Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7035749	rs_147070169	4 SubmittersRCV001574436 RCV001825005 RCV004651692
NM_052867.4(NALCN):c.3845C>T (p.Ser1282Leu)	SNV Germline	Chr13:101081567	Conflicting classifications of pathogenicity	Condition: not provided Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 Congenital contractures of the limbs and face, hypotonia, and developmental delay Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	Criteria Provided Conflicting Classifications	CA7035282	rs_763353781	4 SubmittersRCV001658886 RCV001780427 RCV002488448
NM_052867.4(NALCN):c.1838A>G (p.Gln613Arg)	SNV Germline	Chr13:101176301	Likely pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay	Criteria Provided Single Submitter	CA388702790	rs_2139938444	1 SubmittersRCV001868410
NM_052867.4(NALCN):c.500T>A (p.Ile167Asn)	SNV Germline	Chr13:101376932	Likely pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay	Criteria Provided Single Submitter	CA388705580	rs_2139420897	1 SubmittersRCV001725863
NM_052867.4(NALCN):c.5127G>A (p.Ala1709=)	SNV Germline	Chr13:101055385	Conflicting classifications of pathogenicity	Condition: not provided NALCN-related disorder	Criteria Provided Conflicting Classifications	CA7034913	rs_111638537	4 SubmittersRCV001768504 RCV004536286
NM_052867.4(NALCN):c.1280T>C (p.Val427Ala)	SNV Germline	Chr13:101237909	Conflicting classifications of pathogenicity	Condition: not provided NALCN-related disorder	Criteria Provided Conflicting Classifications	CA7036236	rs_371662809	3 SubmittersRCV001752381 RCV004542104
NM_052867.4(NALCN):c.3943T>G (p.Cys1315Gly)	SNV Germline	Chr13:101075884	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388649672	rs_2139478436	1 SubmittersRCV001769236
NM_052867.4(NALCN):c.2050A>T (p.Thr684Ser)	SNV Germline	Chr13:101143148	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7035991	rs_751927717	3 SubmittersRCV001769380 RCV005382176
NM_052867.4(NALCN):c.3731T>G (p.Met1244Arg)	SNV Germline	Chr13:101082843	Likely pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay	Criteria Provided Single Submitter	CA388651070	rs_2139514134	1 SubmittersRCV001775426
NM_052867.4(NALCN):c.3058G>A (p.Val1020Ile)	SNV Germline	Chr13:101100888	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388654915	rs_2139597781	1 SubmittersRCV001776604
NM_052867.4(NALCN):c.4654G>A (p.Glu1552Lys)	SNV Germline	Chr13:101062069	Pathogenic	Neurodevelopmental disorder	Criteria Provided Single Submitter	CA388644554	rs_2139408863	1 SubmittersRCV001780032
NM_052867.4(NALCN):c.1894C>T (p.Arg632Ter)	SNV Germline	Chr13:101144842	Pathogenic/Likely pathogenic	Condition: not provided See cases Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 Congenital contractures of the limbs and face, hypotonia, and developmental delay	Criteria Provided Multiple Submitters No Conflicts	CA388671815	rs_541633673	5 SubmittersRCV001784707 RCV002252705 RCV002478009
NM_052867.4(NALCN):c.1550T>G (p.Leu517Trp)	SNV Germline	Chr13:101229469	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388704360	rs_2140132816	1 SubmittersRCV001786030
NM_052867.4(NALCN):c.4906-10T>G	SNV Germline	Chr13:101058066	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA7034976	rs_376470327	2 SubmittersRCV001794711
NM_052867.4(NALCN):c.4466G>A (p.Arg1489His)	SNV Germline	Chr13:101065542	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7035104	rs_149644813	3 SubmittersRCV001799834 RCV005443399
NM_052867.4(NALCN):c.3553G>A (p.Ala1185Thr)	SNV Germline	Chr13:101083741	Pathogenic/Likely pathogenic	Condition: not provided Congenital contractures of the limbs and face, hypotonia, and developmental delay	Criteria Provided Multiple Submitters No Conflicts	CA388651800	rs_2139519168	3 SubmittersRCV002226143 RCV002250800
NM_052867.4(NALCN):c.454C>T (p.Arg152Ter)	SNV Germline	Chr13:101376978	Pathogenic	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 Congenital contractures of the limbs and face, hypotonia, and developmental delay Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA7036460	rs_774096141	3 SubmittersRCV002250917 RCV003235691 RCV005445616
NM_052867.4(NALCN):c.3511G>A (p.Asp1171Asn)	SNV Germline	Chr13:101083783	Likely pathogenic	Condition: not provided	No Assertion Criteria Provided	CA388651944	rs_2139519333	1 SubmittersRCV002251823
NM_052867.4(NALCN):c.3808C>T (p.Gln1270Ter)	SNV Germline	Chr13:101081604	Likely pathogenic	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	No Assertion Criteria Provided	CA388650372	rs_2033656475	1 SubmittersRCV002255774
NM_052867.4(NALCN):c.1789G>A (p.Val597Ile)	SNV Germline	Chr13:101176350	Pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay	No Assertion Criteria Provided	CA388702909	rs_2139938691	1 SubmittersRCV002271994
NM_052867.4(NALCN):c.2889+1G>A	SNV Germline	Chr13:101104294	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388669482	rs_769909787	1 SubmittersRCV002286207
NM_052867.4(NALCN):c.4327G>A (p.Val1443Ile)	SNV Germline	Chr13:101068698	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractures of the limbs and face, hypotonia, and developmental delay	Criteria Provided Conflicting Classifications	CA388646944	rs_2501866353	2 SubmittersRCV002286951 RCV003120881
NM_052867.4(NALCN):c.3050T>G (p.Ile1017Ser)	SNV Germline	Chr13:101103179	Likely pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay NALCN-related disorder	Criteria Provided Single Submitter	CA388669129	rs_878853129	2 SubmittersRCV003159077 RCV004534040
NM_052867.4(NALCN):c.3345A>C (p.Lys1115Asn)	SNV Germline	Chr13:101089891	Likely pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay	Criteria Provided Single Submitter	CA388653154	rs_2502043267	1 SubmittersRCV002468750
NM_052867.4(NALCN):c.518G>A (p.Arg173Gln)	SNV Germline	Chr13:101376826	Pathogenic/Likely pathogenic	Condition: not provided Congenital contractures of the limbs and face, hypotonia, and developmental delay	Criteria Provided Multiple Submitters No Conflicts	CA388705530	rs_2548588794	4 SubmittersRCV002469852 RCV003234204
NM_052867.4(NALCN):c.966T>G (p.Ile322Met)	SNV Unknown	Chr13:101292071	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388704806	rs_2043575502	1 SubmittersRCV002505989
NM_052867.4(NALCN):c.1314G>A (p.Trp438Ter)	SNV Germline	Chr13:101237875	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388703239	rs_767029163	1 SubmittersRCV002802189
NM_052867.4(NALCN):c.515+1G>C	SNV Germline	Chr13:101376916	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388705544	rs_758800414	1 SubmittersRCV003006523
NM_052867.4(NALCN):c.19A>T (p.Ser7Cys)	SNV Germline	Chr13:101399108	Conflicting classifications of pathogenicity	Autism spectrum disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA7036575	rs_755839325	2 SubmittersRCV003127466 RCV003778680
NM_052867.4(NALCN):c.3959C>T (p.Thr1320Met)	SNV Germline	Chr13:101074658	Conflicting classifications of pathogenicity	Developmental disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA388649621	rs_2033130135	2 SubmittersRCV003127467 RCV003443169
NM_052867.4(NALCN):c.1640T>C (p.Met547Thr)	SNV Germline	Chr13:101192041	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388703641	rs_2502771072	1 SubmittersRCV003129070
NM_052867.4(NALCN):c.1497A>G (p.Ile499Met)	SNV Germline	Chr13:101229522	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388704474	rs_2502984916	1 SubmittersRCV003228418
NM_052867.4(NALCN):c.1745A>G (p.Tyr582Cys)	SNV Germline	Chr13:101191936	Pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388703398	rs_1555309004	2 SubmittersRCV003322988
NM_052867.4(NALCN):c.518G>C (p.Arg173Pro)	SNV Germline	Chr13:101376826	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388705529	rs_2548588794	1 SubmittersRCV003325921
NM_052867.4(NALCN):c.1759A>G (p.Thr587Ala)	SNV Germline	Chr13:101191922	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388703366	rs_2502769771	1 SubmittersRCV003327733
NM_052867.4(NALCN):c.1245C>A (p.Tyr415Ter)	SNV Germline	Chr13:101258464	Pathogenic	NALCN-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA388703732	rs_1426944195	2 SubmittersRCV003335867 RCV005103968
NM_052867.4(NALCN):c.376-2A>G	SNV Germline	Chr13:101377058	Likely pathogenic	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	Criteria Provided Single Submitter	CA388705858	rs_2548589416	1 SubmittersRCV003338145
NM_052867.4(NALCN):c.3058G>T (p.Val1020Phe)	SNV Germline	Chr13:101100888	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388654919	rs_2139597781	1 SubmittersRCV003441644
NM_052867.4(NALCN):c.3058-1G>T	SNV Germline	Chr13:101100889	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388654923	rs_2034773322	1 SubmittersRCV003545666
NM_052867.4(NALCN):c.109-1G>T	SNV Germline	Chr13:101395366	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388707177	rs_2548615108	1 SubmittersRCV003559072
NM_052867.4(NALCN):c.3541C>T (p.Arg1181Ter)	SNV Germline	Chr13:101083753	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA255408556	rs_751434431	1 SubmittersRCV003661465
NM_052867.4(NALCN):c.3057+1G>A	SNV Germline	Chr13:101103171	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA388669112	rs_2034915223	1 SubmittersRCV003667431
NM_052867.4(NALCN):c.5125G>A (p.Ala1709Thr)	SNV Germline	Chr13:101055387	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA7034914	rs_755292491	3 SubmittersRCV003874472 RCV004953622 RCV005063201
NM_052867.4(NALCN):c.951T>G (p.Phe317Leu)	SNV Germline	Chr13:101292086	Likely pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay	Criteria Provided Single Submitter		rs_2503301904	1 SubmittersRCV004560339
NM_052867.4(NALCN):c.3057+2T>G	SNV Unknown	Chr13:101103170	Likely pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay	Criteria Provided Single Submitter		rs_2502140131	1 SubmittersRCV004586434
NM_052867.4(NALCN):c.3823C>T (p.Arg1275Ter)	SNV Germline	Chr13:101081589	Pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter			1 SubmittersRCV004652266
NM_052867.4(NALCN):c.934C>G (p.Leu312Val)	SNV Germline	Chr13:101292232	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV004719546
NM_052867.4(NALCN):c.4693G>A (p.Glu1565Lys)	SNV Germline	Chr13:101062030	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV004729287
NM_052867.4(NALCN):c.3163-1G>A	SNV Germline	Chr13:101095681	Likely pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay	Criteria Provided Single Submitter			1 SubmittersRCV004784225
NM_052867.4(NALCN):c.518G>T (p.Arg173Leu)	SNV Germline	Chr13:101376826	Likely pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay	Criteria Provided Single Submitter			1 SubmittersRCV004790112
NM_052867.4(NALCN):c.2849T>C (p.Ile950Thr)	SNV Germline	Chr13:101104335	Likely pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay	Criteria Provided Single Submitter			1 SubmittersRCV004797587
NM_052867.4(NALCN):c.3489+1G>T	SNV Germline	Chr13:101089662	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV004798221
NM_052867.4(NALCN):c.4073G>A (p.Gly1358Asp)	SNV Germline	Chr13:101074544	Likely pathogenic	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	Criteria Provided Single Submitter			1 SubmittersRCV004799006
NM_052867.4(NALCN):c.968A>G (p.Glu323Gly)	SNV Germline	Chr13:101292069	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV004812022
NM_052867.4(NALCN):c.4198-11A>G	SNV Germline	Chr13:101068838	Likely pathogenic	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	Criteria Provided Single Submitter			1 SubmittersRCV004812525
NM_052867.4(NALCN):c.4125T>A (p.Ala1375=)	SNV Germline	Chr13:101073656	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV004823708
NM_052867.4(NALCN):c.3955-2A>C	SNV Germline	Chr13:101074664	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005124389
NM_052867.4(NALCN):c.2764G>T (p.Glu922Ter)	SNV Germline	Chr13:101104420	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005148959
NM_052867.4(NALCN):c.1441C>T (p.Arg481Ter)	SNV Germline	Chr13:101229578	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005173328
NM_052867.4(NALCN):c.3525G>A (p.Trp1175Ter)	SNV Germline	Chr13:101083769	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005185362
NM_052867.4(NALCN):c.320G>A (p.Trp107Ter)	SNV Germline	Chr13:101378625	Likely pathogenic	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	Criteria Provided Single Submitter			1 SubmittersRCV005252327
NM_052867.4(NALCN):c.2236C>T (p.Gln746Ter)	SNV Germline	Chr13:101111183	Likely pathogenic	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	Criteria Provided Single Submitter			1 SubmittersRCV005253399
NM_052867.4(NALCN):c.1076G>A (p.Trp359Ter)	SNV Germline	Chr13:101283991	Pathogenic	Congenital contractures of the limbs and face, hypotonia, and developmental delay	Criteria Provided Single Submitter			1 SubmittersRCV005408538
NM_052867.4(NALCN):c.1782T>G (p.Phe594Leu)	SNV Germline	Chr13:101176357	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005429759
NM_052867.4(NALCN):c.419G>T (p.Gly140Val)	SNV Germline	Chr13:101377013	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005603375

NM_052867.4(NALCN):c.1924C>T (p.Gln642Ter)

SNV
Germline

Chr13:101144812

Pathogenic

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1

No Assertion Criteria Provided

CA144793

rs_587777038

1 SubmittersRCV000055644

NM_052867.4(NALCN):c.249G>A (p.Thr83=)

SNV
Germline

Chr13:101395225

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA7036519

rs_145910377

2 SubmittersRCV001652964

NM_052867.4(NALCN):c.3860G>T (p.Trp1287Leu)

SNV
Germline

Chr13:101081552

Pathogenic

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1

No Assertion Criteria Provided

CA145297

rs_587777068

1 SubmittersRCV000074370

NM_052867.4(NALCN):c.530A>C (p.Gln177Pro)

SNV
Germline

Chr13:101376814

Pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay

No Assertion Criteria Provided

CA198508

rs_786203984

2 SubmittersRCV000167528

NM_052867.4(NALCN):c.938T>G (p.Val313Gly)

SNV
Germline

Chr13:101292228

Pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay

No Assertion Criteria Provided

CA198510

rs_786203985

2 SubmittersRCV000167529

NM_052867.4(NALCN):c.1768C>T (p.Leu590Phe)

SNV
Germline

Chr13:101176371

Pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay

No Assertion Criteria Provided

CA198512

rs_786203986

2 SubmittersRCV000167530

NM_052867.4(NALCN):c.1526T>C (p.Leu509Ser)

SNV
Germline

Chr13:101229493

Pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay

No Assertion Criteria Provided

CA198514

rs_786203987

2 SubmittersRCV000167531

NM_052867.4(NALCN):c.1733A>C (p.Tyr578Ser)

SNV
Germline

Chr13:101191948

Pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay
Condition: not provided

Criteria Provided
Single Submitter

CA198516

rs_786203988

3 SubmittersRCV000167532 RCV000483507

NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln)

SNV
Germline

Chr13:101083752

Pathogenic/Likely pathogenic

Intellectual disability with episodic ataxia and congenital arthrogryposis
Congenital contractures of the limbs and face, hypotonia, and developmental delay
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA212642

rs_786201003

9 SubmittersRCV000167764 RCV000224736 RCV001267339 RCV001390781

NM_052867.4(NALCN):c.3390G>A (p.Pro1130=)

SNV
Germline

Chr13:101089846

Pathogenic

Strabismus
Seizure
Abnormal pattern of respiration
Cachexia
Intellectual disability, severe

Criteria Provided
Single Submitter

CA354081

rs_869312873

1 SubmittersRCV000210426

NM_052867.4(NALCN):c.4197+1G>A

SNV
Germline

Chr13:101073583

Pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA358195

rs_869312952

1 SubmittersRCV000210682

NM_052867.4(NALCN):c.2203C>T (p.Arg735Ter)

SNV
Germline

Chr13:101111216

Pathogenic

Inborn genetic diseases
Condition: not provided
Congenital contractures of the limbs and face, hypotonia, and developmental delay

Criteria Provided
Multiple Submitters
No Conflicts

CA358082

rs_757674263

4 SubmittersRCV000210615 RCV003238738 RCV003984831

NM_052867.4(NALCN):c.4338T>G (p.Ile1446Met)

SNV
Germline

Chr13:101068026

Pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay

No Assertion Criteria Provided

CA10581441

rs_878853127

1 SubmittersRCV000224385

NM_052867.4(NALCN):c.3493A>C (p.Thr1165Pro)

SNV
Germline

Chr13:101083801

Likely pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay
Condition: not provided

Criteria Provided
Single Submitter

CA10581442

rs_878853128

2 SubmittersRCV000224193 RCV005401386

NM_052867.4(NALCN):c.3050T>C (p.Ile1017Thr)

SNV
Germline

Chr13:101103179

Pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay

No Assertion Criteria Provided

CA10581443

rs_878853129

1 SubmittersRCV000224534

NM_052867.4(NALCN):c.3017T>C (p.Val1006Ala)

SNV
Germline

Chr13:101103212

Pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay
Condition: not provided

Criteria Provided
Single Submitter

CA10581444

rs_878853130

2 SubmittersRCV000224757 RCV005623320

NM_052867.4(NALCN):c.1538C>A (p.Thr513Asn)

SNV
Germline

Chr13:101229481

Pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay

No Assertion Criteria Provided

CA10581445

rs_878853131

1 SubmittersRCV000224900

NM_052867.4(NALCN):c.1534T>G (p.Phe512Val)

SNV
Germline

Chr13:101229485

Pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay

No Assertion Criteria Provided

CA10581446

rs_878853132

1 SubmittersRCV000224242

NM_052867.4(NALCN):c.979G>A (p.Glu327Lys)

SNV
Germline

Chr13:101292058

Pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay

No Assertion Criteria Provided

CA10581447

rs_878853133

1 SubmittersRCV000224921

NM_052867.4(NALCN):c.934C>A (p.Leu312Ile)

SNV
Germline

Chr13:101292232

Pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay

No Assertion Criteria Provided

CA10581448

rs_878853134

1 SubmittersRCV000224612

NM_052867.4(NALCN):c.3448C>G (p.Leu1150Val)

SNV
Germline

Chr13:101089704

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388652630

rs_1555378616

1 SubmittersRCV000497724

NM_052867.4(NALCN):c.1745A>C (p.Tyr582Ser)

SNV
Germline

Chr13:101191936

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388703399

rs_1555309004

1 SubmittersRCV000497530

NM_052867.4(NALCN):c.1733A>G (p.Tyr578Cys)

SNV
Germline

Chr13:101191948

Pathogenic/Likely pathogenic

Condition: not provided
Congenital contractures of the limbs and face, hypotonia, and developmental delay
Arthrogryposis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA388703427

rs_786203988

6 SubmittersRCV000498669 RCV001254037 RCV005625484

NM_052867.4(NALCN):c.985A>G (p.Arg329Gly)

SNV
Germline

Chr13:101292052

Likely pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay

Criteria Provided
Single Submitter

CA10654765

rs_1057516040

1 SubmittersRCV000408614

NM_052867.4(NALCN):c.1639A>G (p.Met547Val)

SNV
Germline

Chr13:101192042

Likely pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay

Criteria Provided
Multiple Submitters
No Conflicts

CA16044231

rs_1057519432

3 SubmittersRCV000416437

NM_052867.4(NALCN):c.965T>C (p.Ile322Thr)

SNV
Germline

Chr13:101292072

Pathogenic/Likely pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA16044232

rs_1057519433

4 SubmittersRCV000416463 RCV001092912 RCV002521493

NM_052867.4(NALCN):c.2008C>T (p.Gln670Ter)

SNV
Germline

Chr13:101143190

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16606743

rs_972964381

1 SubmittersRCV000423757

NM_052867.4(NALCN):c.1776T>G (p.Ser592Arg)

SNV
Germline

Chr13:101176363

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16619608

rs_1064795423

1 SubmittersRCV000486031

NM_052867.4(NALCN):c.1673A>G (p.Asp558Gly)

SNV
Germline

Chr13:101192008

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16619609

rs_1064794722

1 SubmittersRCV000483143

NM_052867.4(NALCN):c.3903G>A (p.Met1301Ile)

SNV
Germline

Chr13:101075924

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388649768

rs_1555375944

1 SubmittersRCV000498585

NM_052867.4(NALCN):c.2483A>G (p.Glu828Gly)

SNV
Germline

Chr13:101107583

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388670410

rs_1555383003

1 SubmittersRCV000519871

NM_052867.4(NALCN):c.4330+5G>A

SNV
Germline

Chr13:101068690

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA7035156

rs_763237578

1 SubmittersRCV000579183

NM_052867.4(NALCN):c.2563C>T (p.Arg855Ter)

SNV
Germline

Chr13:101107503

Pathogenic

Inborn genetic diseases
Condition: not provided
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
NALCN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7035672

rs_376152742

6 SubmittersRCV000623970 RCV000578635 RCV001090146 RCV005250079

NM_052867.4(NALCN):c.306T>G (p.Tyr102Ter)

SNV
Germline

Chr13:101378639

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388706023

rs_527789070

1 SubmittersRCV000578588

NM_052867.4(NALCN):c.4977C>G (p.Asp1659Glu)

SNV
Germline

Chr13:101057985

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
NALCN-related disorder

Criteria Provided
Conflicting Classifications

CA7034957

rs_78817184

5 SubmittersRCV000595285 RCV004955705 RCV004530718

NM_052867.4(NALCN):c.3064A>G (p.Ile1022Val)

SNV
Germline

Chr13:101100882

Conflicting classifications of pathogenicity

Congenital contractures of the limbs and face, hypotonia, and developmental delay

Criteria Provided
Conflicting Classifications

CA388654881

rs_1555381108

2 SubmittersRCV000622774

NM_052867.4(NALCN):c.4755+1G>T

SNV
Germline

Chr13:101061967

Pathogenic/Likely pathogenic

Inborn genetic diseases
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388644323

rs_1158141270

3 SubmittersRCV000624599 RCV000763319 RCV001561737

NM_052867.4(NALCN):c.4605-1G>C

SNV
Germline

Chr13:101062119

Likely pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA388644757

rs_1555373511

1 SubmittersRCV000623887

NM_052867.4(NALCN):c.4236C>A (p.Tyr1412Ter)

SNV
Germline

Chr13:101068789

Pathogenic

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1

Criteria Provided
Single Submitter

CA388647502

rs_1158771233

1 SubmittersRCV000625918

NM_052867.4(NALCN):c.3269G>A (p.Trp1090Ter)

SNV
Unknown

Chr13:101095574

Pathogenic

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1

Criteria Provided
Single Submitter

CA388653333

rs_1555379886

1 SubmittersRCV000625775

NM_052867.4(NALCN):c.3490-2A>G

SNV
Germline

Chr13:101083806

Pathogenic/Likely pathogenic

Condition: not provided
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1

Criteria Provided
Multiple Submitters
No Conflicts

CA388652019

rs_1333710212

2 SubmittersRCV000658033 RCV005357875

NM_052867.4(NALCN):c.1800C>A (p.Asp600Glu)

SNV
Germline

Chr13:101176339

Likely pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay

No Assertion Criteria Provided

CA388702883

rs_1566385468

1 SubmittersRCV000768409

NM_052867.4(NALCN):c.1571G>A (p.Ser524Asn)

SNV
Germline

Chr13:101229448

Likely pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay

No Assertion Criteria Provided

CA388704313

rs_1566460907

1 SubmittersRCV000768410

NM_052867.4(NALCN):c.2947C>T (p.Gln983Ter)

SNV
Germline

Chr13:101103282

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388669343

rs_1566815386

1 SubmittersRCV000760874

NM_052867.4(NALCN):c.475C>T (p.Arg159Ter)

SNV
Germline

Chr13:101376957

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA256080658

rs_771015295

1 SubmittersRCV000760873

NM_052867.4(NALCN):c.4333A>T (p.Ile1445Leu)

SNV
Germline

Chr13:101068031

Pathogenic

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1

No Assertion Criteria Provided

CA388646805

rs_1459166839

1 SubmittersRCV000845223

NM_052867.4(NALCN):c.4281C>A (p.Phe1427Leu)

SNV
Germline

Chr13:101068744

Pathogenic

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1

No Assertion Criteria Provided

CA388647226

rs_1594134160

1 SubmittersRCV000845219

NM_052867.4(NALCN):c.4150C>T (p.Arg1384Ter)

SNV
Germline

Chr13:101073631

Pathogenic

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
NALCN-related disorder
Congenital contractures of the limbs and face, hypotonia, and developmental delay

Criteria Provided
Multiple Submitters
No Conflicts

CA255402342

rs_1031314447

3 SubmittersRCV000845225 RCV003336223 RCV003984848

NM_052867.4(NALCN):c.3556C>T (p.Gln1186Ter)

SNV
Germline

Chr13:101083738

Pathogenic

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1

No Assertion Criteria Provided

CA388651789

rs_1594168638

1 SubmittersRCV000845221

NM_052867.4(NALCN):c.3022C>T (p.Arg1008Ter)

SNV
Germline

Chr13:101103207

Pathogenic

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7035523

rs_766421214

3 SubmittersRCV000845216 RCV002269323

NM_052867.4(NALCN):c.321G>A (p.Trp107Ter)

SNV
Germline

Chr13:101378624

Pathogenic

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1

No Assertion Criteria Provided

CA388705989

rs_1594761911

1 SubmittersRCV000845226

NM_052867.4(NALCN):c.4103+2T>C

SNV
Germline

Chr13:101074512

Pathogenic

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1

No Assertion Criteria Provided

CA388649290

rs_1594146891

1 SubmittersRCV000845220

NM_052867.4(NALCN):c.1799A>G (p.Asp600Gly)

SNV
Germline

Chr13:101176340

Pathogenic/Likely pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay
NALCN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA388702886

rs_1594368726

2 SubmittersRCV000853279 RCV004538169

NM_052867.4(NALCN):c.1783G>T (p.Val595Phe)

SNV
Germline

Chr13:101176356

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA388702919

rs_1594368753

1 SubmittersRCV000855468

NM_052867.4(NALCN):c.950T>G (p.Phe317Cys)

SNV
Germline

Chr13:101292087

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA388704839

rs_1594616249

1 SubmittersRCV000855467

NM_052867.4(NALCN):c.191A>G (p.Tyr64Cys)

SNV
Unknown

Chr13:101395283

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA7036526

rs_762389271

1 SubmittersRCV000855469

NM_052867.4(NALCN):c.1115G>A (p.Arg372His)

SNV
Germline

Chr13:101283952

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
NALCN-related disorder

Criteria Provided
Conflicting Classifications

CA7036310

rs_75772824

5 SubmittersRCV002536263 RCV000864727 RCV004538224

NM_052867.4(NALCN):c.3852C>A (p.Gly1284=)

SNV
Germline

Chr13:101081560

Conflicting classifications of pathogenicity

Condition: not provided
NALCN-related disorder

Criteria Provided
Conflicting Classifications

CA7035278

rs_772803115

3 SubmittersRCV000877305 RCV004530867

NM_052867.4(NALCN):c.103A>G (p.Lys35Glu)

SNV
Germline

Chr13:101399024

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7036565

rs_79047578

3 SubmittersRCV000872953 RCV004958218

NM_052867.4(NALCN):c.1765-6T>G

SNV
Germline

Chr13:101176380

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA7036070

rs_370198465

2 SubmittersRCV000876682

NM_052867.4(NALCN):c.883C>T (p.Arg295Cys)

SNV
Germline

Chr13:101292283

Conflicting classifications of pathogenicity

Condition: not provided
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1

Criteria Provided
Conflicting Classifications

CA7036362

rs_372035044

3 SubmittersRCV000965928 RCV000985034

NM_052867.4(NALCN):c.2495A>G (p.Tyr832Cys)

SNV
Germline

Chr13:101107571

Conflicting classifications of pathogenicity

Condition: not provided
not specified
NALCN-related disorder

Criteria Provided
Conflicting Classifications

CA7035689

rs_549182297

5 SubmittersRCV000934218 RCV001731981 RCV004533590

NM_052867.4(NALCN):c.3533T>C (p.Leu1178Pro)

SNV
Germline

Chr13:101083761

Likely pathogenic

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1

No Assertion Criteria Provided

CA388651864

rs_1594168705

1 SubmittersRCV000985067

NM_052867.4(NALCN):c.3843G>A (p.Thr1281=)

SNV
Germline

Chr13:101081569

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA7035283

rs_151200877

3 SubmittersRCV000995073

NM_052867.4(NALCN):c.3448C>A (p.Leu1150Ile)

SNV
Germline

Chr13:101089704

Pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388652631

rs_1555378616

2 SubmittersRCV001007895 RCV001732011

NM_052867.4(NALCN):c.2579+5G>A

SNV
Germline

Chr13:101107482

Conflicting classifications of pathogenicity

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA959539294

rs_2035187622

3 SubmittersRCV001090147 RCV002286810 RCV002555935

NM_052867.4(NALCN):c.2242G>A (p.Ala748Thr)

SNV
Germline

Chr13:101111177

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7035778

rs_77946954

4 SubmittersRCV001092083 RCV002555955

NM_052867.4(NALCN):c.1434+1G>A

SNV
Germline

Chr13:101237754

Pathogenic/Likely pathogenic

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
Abnormality of the nervous system

Criteria Provided
Multiple Submitters
No Conflicts

CA388702972

rs_2041614157

2 SubmittersRCV001169972 RCV001814276

NM_052867.4(NALCN):c.3577C>T (p.Arg1193Cys)

SNV
Germline

Chr13:101083717

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388651715

rs_1387780751

1 SubmittersRCV001200391

NM_052867.4(NALCN):c.3059T>C (p.Val1020Ala)

SNV
Germline

Chr13:101100887

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388654905

rs_2034773072

1 SubmittersRCV001200392

NM_052867.4(NALCN):c.4355T>C (p.Leu1452Ser)

SNV
Germline

Chr13:101068009

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA388646676

rs_2032560672

2 SubmittersRCV001266781 RCV004719124

NM_052867.4(NALCN):c.986G>C (p.Arg329Thr)

SNV
Germline

Chr13:101292051

Likely pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA388704761

rs_2043574947

1 SubmittersRCV001266253

NM_052867.4(NALCN):c.3522A>T (p.Arg1174Ser)

SNV
Germline

Chr13:101083772

Pathogenic/Likely pathogenic

Condition: not provided
Congenital contractures of the limbs and face, hypotonia, and developmental delay

Criteria Provided
Multiple Submitters
No Conflicts

CA388651903

rs_2033787523

2 SubmittersRCV001268880 RCV002464434

NM_052867.4(NALCN):c.1756G>C (p.Ala586Pro)

SNV
Germline

Chr13:101191925

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388703370

rs_2039698499

1 SubmittersRCV001281638

NM_052867.4(NALCN):c.943-1G>C

SNV
Germline

Chr13:101292095

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388704860

rs_2043576660

1 SubmittersRCV001311349

NM_052867.4(NALCN):c.946G>A (p.Val316Met)

SNV
Germline

Chr13:101292091

Conflicting classifications of pathogenicity

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay
Condition: not provided

Criteria Provided
Conflicting Classifications

CA388704849

rs_1463184766

3 SubmittersRCV001330243 RCV005232273 RCV005414594

NM_052867.4(NALCN):c.2266G>A (p.Val756Met)

SNV
Germline

Chr13:101111153

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7035772

rs_149203278

3 SubmittersRCV001471087 RCV002561953

NM_052867.4(NALCN):c.1313G>A (p.Trp438Ter)

SNV
Germline

Chr13:101237876

Pathogenic

Abnormality of the nervous system

Criteria Provided
Single Submitter

CA388703243

rs_2140156819

1 SubmittersRCV001814347

NM_052867.4(NALCN):c.3058-11A>G

SNV
Germline

Chr13:101100899

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA7035499

rs_201506269

2 SubmittersRCV001546110

NM_052867.4(NALCN):c.1517T>A (p.Leu506His)

SNV
Germline

Chr13:101229502

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388704428

rs_2140132909

1 SubmittersRCV001555019

NM_052867.4(NALCN):c.3983T>G (p.Val1328Gly)

SNV
Germline

Chr13:101074634

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388649568

rs_2139471715

1 SubmittersRCV001562007

NM_052867.4(NALCN):c.2524C>T (p.Arg842Ter)

SNV
Germline

Chr13:101107542

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA7035681

rs_779930597

1 SubmittersRCV001567115

NM_052867.4(NALCN):c.722C>T (p.Pro241Leu)

SNV
Germline

Chr13:101345343

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA7036387

rs_764444847

2 SubmittersRCV001567988

NM_052867.4(NALCN):c.5098G>A (p.Val1700Met)

SNV
Germline

Chr13:101055414

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA7034916

rs_761894809

2 SubmittersRCV001576609

NM_052867.4(NALCN):c.5065C>T (p.Arg1689Trp)

SNV
Germline

Chr13:101055447

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7034924

rs_200731653

3 SubmittersRCV001575089 RCV005438994

NM_052867.4(NALCN):c.2307T>G (p.His769Gln)

SNV
Germline

Chr13:101110676

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractures of the limbs and face, hypotonia, and developmental delay
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7035749

rs_147070169

4 SubmittersRCV001574436 RCV001825005 RCV004651692

NM_052867.4(NALCN):c.3845C>T (p.Ser1282Leu)

SNV
Germline

Chr13:101081567

Conflicting classifications of pathogenicity

Condition: not provided
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1

Criteria Provided
Conflicting Classifications

CA7035282

rs_763353781

4 SubmittersRCV001658886 RCV001780427 RCV002488448

NM_052867.4(NALCN):c.1838A>G (p.Gln613Arg)

SNV
Germline

Chr13:101176301

Likely pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay

Criteria Provided
Single Submitter

CA388702790

rs_2139938444

1 SubmittersRCV001868410

NM_052867.4(NALCN):c.500T>A (p.Ile167Asn)

SNV
Germline

Chr13:101376932

Likely pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay

Criteria Provided
Single Submitter

CA388705580

rs_2139420897

1 SubmittersRCV001725863

NM_052867.4(NALCN):c.5127G>A (p.Ala1709=)

SNV
Germline

Chr13:101055385

Conflicting classifications of pathogenicity

Condition: not provided
NALCN-related disorder

Criteria Provided
Conflicting Classifications

CA7034913

rs_111638537

4 SubmittersRCV001768504 RCV004536286

NM_052867.4(NALCN):c.1280T>C (p.Val427Ala)

SNV
Germline

Chr13:101237909

Conflicting classifications of pathogenicity

Condition: not provided
NALCN-related disorder

Criteria Provided
Conflicting Classifications

CA7036236

rs_371662809

3 SubmittersRCV001752381 RCV004542104

NM_052867.4(NALCN):c.3943T>G (p.Cys1315Gly)

SNV
Germline

Chr13:101075884

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388649672

rs_2139478436

1 SubmittersRCV001769236

NM_052867.4(NALCN):c.2050A>T (p.Thr684Ser)

SNV
Germline

Chr13:101143148

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7035991

rs_751927717

3 SubmittersRCV001769380 RCV005382176

NM_052867.4(NALCN):c.3731T>G (p.Met1244Arg)

SNV
Germline

Chr13:101082843

Likely pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay

Criteria Provided
Single Submitter

CA388651070

rs_2139514134

1 SubmittersRCV001775426

NM_052867.4(NALCN):c.3058G>A (p.Val1020Ile)

SNV
Germline

Chr13:101100888

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388654915

rs_2139597781

1 SubmittersRCV001776604

NM_052867.4(NALCN):c.4654G>A (p.Glu1552Lys)

SNV
Germline

Chr13:101062069

Pathogenic

Neurodevelopmental disorder

Criteria Provided
Single Submitter

CA388644554

rs_2139408863

1 SubmittersRCV001780032

NM_052867.4(NALCN):c.1894C>T (p.Arg632Ter)

SNV
Germline

Chr13:101144842

Pathogenic/Likely pathogenic

Condition: not provided
See cases
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay

Criteria Provided
Multiple Submitters
No Conflicts

CA388671815

rs_541633673

5 SubmittersRCV001784707 RCV002252705 RCV002478009

NM_052867.4(NALCN):c.1550T>G (p.Leu517Trp)

SNV
Germline

Chr13:101229469

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388704360

rs_2140132816

1 SubmittersRCV001786030

NM_052867.4(NALCN):c.4906-10T>G

SNV
Germline

Chr13:101058066

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA7034976

rs_376470327

2 SubmittersRCV001794711

NM_052867.4(NALCN):c.4466G>A (p.Arg1489His)

SNV
Germline

Chr13:101065542

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7035104

rs_149644813

3 SubmittersRCV001799834 RCV005443399

NM_052867.4(NALCN):c.3553G>A (p.Ala1185Thr)

SNV
Germline

Chr13:101083741

Pathogenic/Likely pathogenic

Condition: not provided
Congenital contractures of the limbs and face, hypotonia, and developmental delay

Criteria Provided
Multiple Submitters
No Conflicts

CA388651800

rs_2139519168

3 SubmittersRCV002226143 RCV002250800

NM_052867.4(NALCN):c.454C>T (p.Arg152Ter)

SNV
Germline

Chr13:101376978

Pathogenic

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA7036460

rs_774096141

3 SubmittersRCV002250917 RCV003235691 RCV005445616

NM_052867.4(NALCN):c.3511G>A (p.Asp1171Asn)

SNV
Germline

Chr13:101083783

Likely pathogenic

Condition: not provided

No Assertion Criteria Provided

CA388651944

rs_2139519333

1 SubmittersRCV002251823

NM_052867.4(NALCN):c.3808C>T (p.Gln1270Ter)

SNV
Germline

Chr13:101081604

Likely pathogenic

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1

No Assertion Criteria Provided

CA388650372

rs_2033656475

1 SubmittersRCV002255774

NM_052867.4(NALCN):c.1789G>A (p.Val597Ile)

SNV
Germline

Chr13:101176350

Pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay

No Assertion Criteria Provided

CA388702909

rs_2139938691

1 SubmittersRCV002271994

NM_052867.4(NALCN):c.2889+1G>A

SNV
Germline

Chr13:101104294

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388669482

rs_769909787

1 SubmittersRCV002286207

NM_052867.4(NALCN):c.4327G>A (p.Val1443Ile)

SNV
Germline

Chr13:101068698

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractures of the limbs and face, hypotonia, and developmental delay

Criteria Provided
Conflicting Classifications

CA388646944

rs_2501866353

2 SubmittersRCV002286951 RCV003120881

NM_052867.4(NALCN):c.3050T>G (p.Ile1017Ser)

SNV
Germline

Chr13:101103179

Likely pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay
NALCN-related disorder

Criteria Provided
Single Submitter

CA388669129

rs_878853129

2 SubmittersRCV003159077 RCV004534040

NM_052867.4(NALCN):c.3345A>C (p.Lys1115Asn)

SNV
Germline

Chr13:101089891

Likely pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay

Criteria Provided
Single Submitter

CA388653154

rs_2502043267

1 SubmittersRCV002468750

NM_052867.4(NALCN):c.518G>A (p.Arg173Gln)

SNV
Germline

Chr13:101376826

Pathogenic/Likely pathogenic

Condition: not provided
Congenital contractures of the limbs and face, hypotonia, and developmental delay

Criteria Provided
Multiple Submitters
No Conflicts

CA388705530

rs_2548588794

4 SubmittersRCV002469852 RCV003234204

NM_052867.4(NALCN):c.966T>G (p.Ile322Met)

SNV
Unknown

Chr13:101292071

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388704806

rs_2043575502

1 SubmittersRCV002505989

NM_052867.4(NALCN):c.1314G>A (p.Trp438Ter)

SNV
Germline

Chr13:101237875

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388703239

rs_767029163

1 SubmittersRCV002802189

NM_052867.4(NALCN):c.515+1G>C

SNV
Germline

Chr13:101376916

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388705544

rs_758800414

1 SubmittersRCV003006523

NM_052867.4(NALCN):c.19A>T (p.Ser7Cys)

SNV
Germline

Chr13:101399108

Conflicting classifications of pathogenicity

Autism spectrum disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7036575

rs_755839325

2 SubmittersRCV003127466 RCV003778680

NM_052867.4(NALCN):c.3959C>T (p.Thr1320Met)

SNV
Germline

Chr13:101074658

Conflicting classifications of pathogenicity

Developmental disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA388649621

rs_2033130135

2 SubmittersRCV003127467 RCV003443169

NM_052867.4(NALCN):c.1640T>C (p.Met547Thr)

SNV
Germline

Chr13:101192041

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388703641

rs_2502771072

1 SubmittersRCV003129070

NM_052867.4(NALCN):c.1497A>G (p.Ile499Met)

SNV
Germline

Chr13:101229522

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388704474

rs_2502984916

1 SubmittersRCV003228418

NM_052867.4(NALCN):c.1745A>G (p.Tyr582Cys)

SNV
Germline

Chr13:101191936

Pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388703398

rs_1555309004

2 SubmittersRCV003322988

NM_052867.4(NALCN):c.518G>C (p.Arg173Pro)

SNV
Germline

Chr13:101376826

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388705529

rs_2548588794

1 SubmittersRCV003325921

NM_052867.4(NALCN):c.1759A>G (p.Thr587Ala)

SNV
Germline

Chr13:101191922

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388703366

rs_2502769771

1 SubmittersRCV003327733

NM_052867.4(NALCN):c.1245C>A (p.Tyr415Ter)

SNV
Germline

Chr13:101258464

Pathogenic

NALCN-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA388703732

rs_1426944195

2 SubmittersRCV003335867 RCV005103968

NM_052867.4(NALCN):c.376-2A>G

SNV
Germline

Chr13:101377058

Likely pathogenic

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1

Criteria Provided
Single Submitter

CA388705858

rs_2548589416

1 SubmittersRCV003338145

NM_052867.4(NALCN):c.3058G>T (p.Val1020Phe)

SNV
Germline

Chr13:101100888

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388654919

rs_2139597781

1 SubmittersRCV003441644

NM_052867.4(NALCN):c.3058-1G>T

SNV
Germline

Chr13:101100889

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388654923

rs_2034773322

1 SubmittersRCV003545666

NM_052867.4(NALCN):c.109-1G>T

SNV
Germline

Chr13:101395366

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388707177

rs_2548615108

1 SubmittersRCV003559072

NM_052867.4(NALCN):c.3541C>T (p.Arg1181Ter)

SNV
Germline

Chr13:101083753

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA255408556

rs_751434431

1 SubmittersRCV003661465

NM_052867.4(NALCN):c.3057+1G>A

SNV
Germline

Chr13:101103171

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA388669112

rs_2034915223

1 SubmittersRCV003667431

NM_052867.4(NALCN):c.5125G>A (p.Ala1709Thr)

SNV
Germline

Chr13:101055387

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7034914

rs_755292491

3 SubmittersRCV003874472 RCV004953622 RCV005063201

NM_052867.4(NALCN):c.951T>G (p.Phe317Leu)

SNV
Germline

Chr13:101292086

Likely pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay

Criteria Provided
Single Submitter

rs_2503301904

1 SubmittersRCV004560339

NM_052867.4(NALCN):c.3057+2T>G

SNV
Unknown

Chr13:101103170

Likely pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay

Criteria Provided
Single Submitter

rs_2502140131

1 SubmittersRCV004586434

NM_052867.4(NALCN):c.3823C>T (p.Arg1275Ter)

SNV
Germline

Chr13:101081589

Pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

1 SubmittersRCV004652266

NM_052867.4(NALCN):c.934C>G (p.Leu312Val)

SNV
Germline

Chr13:101292232

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004719546

NM_052867.4(NALCN):c.4693G>A (p.Glu1565Lys)

SNV
Germline

Chr13:101062030

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004729287

NM_052867.4(NALCN):c.3163-1G>A

SNV
Germline

Chr13:101095681

Likely pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay

Criteria Provided
Single Submitter

1 SubmittersRCV004784225

NM_052867.4(NALCN):c.518G>T (p.Arg173Leu)

SNV
Germline

Chr13:101376826

Likely pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay

Criteria Provided
Single Submitter

1 SubmittersRCV004790112

NM_052867.4(NALCN):c.2849T>C (p.Ile950Thr)

SNV
Germline

Chr13:101104335

Likely pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay

Criteria Provided
Single Submitter

1 SubmittersRCV004797587

NM_052867.4(NALCN):c.3489+1G>T

SNV
Germline

Chr13:101089662

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004798221

NM_052867.4(NALCN):c.4073G>A (p.Gly1358Asp)

SNV
Germline

Chr13:101074544

Likely pathogenic

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1

Criteria Provided
Single Submitter

1 SubmittersRCV004799006

NM_052867.4(NALCN):c.968A>G (p.Glu323Gly)

SNV
Germline

Chr13:101292069

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004812022

NM_052867.4(NALCN):c.4198-11A>G

SNV
Germline

Chr13:101068838

Likely pathogenic

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1

Criteria Provided
Single Submitter

1 SubmittersRCV004812525

NM_052867.4(NALCN):c.4125T>A (p.Ala1375=)

SNV
Germline

Chr13:101073656

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004823708

NM_052867.4(NALCN):c.3955-2A>C

SNV
Germline

Chr13:101074664

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005124389

NM_052867.4(NALCN):c.2764G>T (p.Glu922Ter)

SNV
Germline

Chr13:101104420

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005148959

NM_052867.4(NALCN):c.1441C>T (p.Arg481Ter)

SNV
Germline

Chr13:101229578

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005173328

NM_052867.4(NALCN):c.3525G>A (p.Trp1175Ter)

SNV
Germline

Chr13:101083769

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005185362

NM_052867.4(NALCN):c.320G>A (p.Trp107Ter)

SNV
Germline

Chr13:101378625

Likely pathogenic

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1

Criteria Provided
Single Submitter

1 SubmittersRCV005252327

NM_052867.4(NALCN):c.2236C>T (p.Gln746Ter)

SNV
Germline

Chr13:101111183

Likely pathogenic

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1

Criteria Provided
Single Submitter

1 SubmittersRCV005253399

NM_052867.4(NALCN):c.1076G>A (p.Trp359Ter)

SNV
Germline

Chr13:101283991

Pathogenic

Congenital contractures of the limbs and face, hypotonia, and developmental delay

Criteria Provided
Single Submitter

1 SubmittersRCV005408538

NM_052867.4(NALCN):c.1782T>G (p.Phe594Leu)

SNV
Germline

Chr13:101176357

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005429759

NM_052867.4(NALCN):c.419G>T (p.Gly140Val)

SNV
Germline

Chr13:101377013

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005603375