Total 28 pathogenic variants reported for Cold-induced sweating syndrome 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_004750.5(CRLF1):c.226T>G (p.Trp76Gly) SNV
Germline
Chr19:18599736 Pathogenic Cold-induced sweating syndrome 1 No Assertion Criteria Provided
CA253574 rs_137853143

2 SubmittersRCV000006062

NM_004750.5(CRLF1):c.1102A>T (p.Lys368Ter) SNV
Germline
Chr19:18594357 Pathogenic Cold-induced sweating syndrome 1 No Assertion Criteria Provided
CA253575 rs_137853144

1 SubmittersRCV000006065

NM_004750.5(CRLF1):c.829C>T (p.Arg277Ter) SNV
Germline
Chr19:18596918 Pathogenic Cold-induced sweating syndrome 1 No Assertion Criteria Provided
CA253577 rs_137853145

1 SubmittersRCV000006067

NM_004750.5(CRLF1):c.397+1G>A SNV
Germline
Chr19:18599564 Pathogenic/Likely pathogenic Condition: not provided
Cone-rod dystrophy 12
Cold-induced sweating syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA342063 rs_137853932

3 SubmittersRCV003231876RCV003236599RCV003988099

NM_001031710.3(KLHL7):c.1115G>A (p.Arg372Gln) SNV
Germline
Chr7:23165876 Pathogenic PERCHING syndrome
Cold-induced sweating syndrome 1
No Assertion Criteria Provided
CA10576260 rs_879255558

2 SubmittersRCV000239571RCV000490973

NM_001031710.3(KLHL7):c.1258C>T (p.Arg420Cys) SNV
Germline
Chr7:23167916 Likely pathogenic PERCHING syndrome
Condition: not provided
Cold-induced sweating syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA4186579 rs_780705654

5 SubmittersRCV000239522RCV001268085RCV000491153

NM_001031710.3(KLHL7):c.1261T>A (p.Cys421Ser) SNV
Germline
Chr7:23167919 Pathogenic PERCHING syndrome
Cold-induced sweating syndrome 1
No Assertion Criteria Provided
CA10576261 rs_879255556

3 SubmittersRCV000239567RCV000491913

NM_004750.5(CRLF1):c.935G>T (p.Arg312Leu) SNV
Germline
Chr19:18596711 Likely pathogenic Cold-induced sweating syndrome 1 Criteria Provided
Single Submitter
CA9314048 rs_137853933

1 SubmittersRCV001268950

NM_004750.5(CRLF1):c.531G>A (p.Trp177Ter) SNV
Germline
Chr19:18598598 Pathogenic Cold-induced sweating syndrome 1 Criteria Provided
Multiple Submitters
No Conflicts
CA404851470 rs_1976175724

2 SubmittersRCV001268951

NM_004750.5(CRLF1):c.776C>A (p.Ser259Ter) SNV
Germline
Chr19:18596971 Pathogenic Cold-induced sweating syndrome 1 Criteria Provided
Single Submitter
CA404850958 rs_1199919814

1 SubmittersRCV002052184

NM_004750.5(CRLF1):c.167T>C (p.Leu56Pro) SNV
Germline
Chr19:18599795 Likely pathogenic Cold-induced sweating syndrome 1 No Assertion Criteria Provided
CA404852251 rs_2513391100

1 SubmittersRCV002287528

NM_004750.5(CRLF1):c.771G>A (p.Trp257Ter) SNV
Germline
Chr19:18596976 Pathogenic Cold-induced sweating syndrome 1 Criteria Provided
Single Submitter
CA404850970 rs_1976145478

1 SubmittersRCV002262181

NM_004750.5(CRLF1):c.824G>C (p.Arg275Pro) SNV
Germline
Chr19:18596923 Likely pathogenic Cold-induced sweating syndrome 1 Criteria Provided
Single Submitter
CA404850854 rs_745392621

1 SubmittersRCV003313730

NM_004750.5(CRLF1):c.1213-1G>T SNV
Germline
Chr19:18594108 Likely pathogenic Cold-induced sweating syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005026433

NM_004750.5(CRLF1):c.855+2T>G SNV
Germline
Chr19:18596890 Likely pathogenic Cold-induced sweating syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005026434