Total 40 pathogenic variants reported for Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 
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.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.2563C>T (p.Arg855Ter) SNV
Germline		 Chr13:101107503 Pathogenic Condition: not provided
Inborn genetic diseases
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7035672 rs_376152742

5 SubmittersRCV000578635RCV000623970RCV001090146
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 SubmittersRCV000624599RCV000763319RCV001561737
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.4333A>T (p.Ile1445Leu) SNV
Germline		 Chr13:101068031 Pathogenic Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 No Assertion Criteria Provided
 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
 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
 rs_1031314447

3 SubmittersRCV000845225RCV003336223RCV003984848
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
 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
 rs_766421214

3 SubmittersRCV000845216RCV002269323
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
 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
 rs_1594146891

1 SubmittersRCV000845220
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
 rs_372035044

3 SubmittersRCV000965928RCV000985034
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
 rs_1594168705

1 SubmittersRCV000985067
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
 rs_2035187622

3 SubmittersRCV001090147RCV002286810RCV002555935
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
 rs_2041614157

2 SubmittersRCV001169972RCV001814276
NM_052867.4(NALCN):c.946G>A (p.Val316Met) SNV
Germline		 Chr13:101292091 Likely pathogenic Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 Criteria Provided
Single Submitter
 rs_1463184766

1 SubmittersRCV001330243
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
 rs_147070169

4 SubmittersRCV001574436RCV001825005RCV004651692
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
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay		 Criteria Provided
Conflicting Classifications
 rs_763353781

4 SubmittersRCV001658886RCV001780427RCV002488448
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
 rs_541633673

5 SubmittersRCV001784707RCV002252705RCV002478009
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		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_774096141

2 SubmittersRCV002250917RCV003235691
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
 rs_2033656475

1 SubmittersRCV002255774
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

1 SubmittersRCV003338145
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.4198-11A>G SNV
Germline		 Chr13:101068838 Likely pathogenic Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 Criteria Provided
Single Submitter

1 SubmittersRCV004812525