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 SubmittersRCV003231876 RCV003236599 RCV003988099
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 SubmittersRCV000239571 RCV000490973
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 SubmittersRCV000239522 RCV001268085 RCV000491153
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 SubmittersRCV000239567 RCV000491913
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