Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_004750.4(CRLF1):c.1121T>G (p.Leu374Arg) | 9244 | CRLF1 | Pathogenic | 104894668 | RCV000006060; RCV000020613; | N | MedGen:C1848947,OMIM:272430 | 19 | 18705148 | 18705148 | NM_004750.4:c.1121T>G | NP_004741.1:p.Leu374Arg | NC_000019.9:g.18705148A>C | OMIM Allelic Variant:604237.0002 | C1848947 272430 Cold-induced sweating syndrome 1 | | |
NM_004750.4(CRLF1):c.1121T>G (p.Leu374Arg) | 9244 | CRLF1 | Pathogenic | 104894668 | RCV000006060; RCV000020613; | N | MedGen:C1848947,OMIM:272430 | 19 | 18705148 | 18705148 | NM_004750.4:c.1121T>G | NP_004741.1:p.Leu374Arg | NC_000019.9:g.18705148A>C | OMIM Allelic Variant:604237.0002 | C1848947 272430 Cold-induced sweating syndrome 1 | | |
NM_004750.4(CRLF1):c.1102A>T (p.Lys368Ter) | 9244 | CRLF1 | Pathogenic | 137853144 | RCV000006065; | N | MedGen:C1848947,OMIM:272430 | 19 | 18705167 | 18705167 | NM_004750.4:c.1102A>T | NP_004741.1:p.Lys368Ter | NC_000019.9:g.18705167T>A | OMIM Allelic Variant:604237.0007 | C1848947 272430 Cold-induced sweating syndrome 1 | | |
NM_004750.4(CRLF1):c.935G>A (p.Arg312His) | 9244 | CRLF1 | Pathogenic | 137853933 | RCV000020622; | N | MedGen:C1848947,OMIM:272430 | 19 | 18707521 | 18707521 | NM_004750.4:c.935G>A | NP_004741.1:p.Arg312His | NC_000019.9:g.18707521C>T | - | C1848947 272430 Cold-induced sweating syndrome 1 | | |
NM_004750.4(CRLF1):c.857_864delTGGTGGAC (p.Val286Glyfs) | 9244 | CRLF1 | Pathogenic | 367543004 | RCV000020063; | N | MedGen:C1848947,OMIM:272430 | 19 | 18707592 | 18707599 | NM_004750.4:c.857_864delTGGTGGAC | NP_004741.1:p.Val286Glyfs | NC_000019.9:g.18707592_18707599delGTCCACCA | dbVar:nssv3761559,dbVar:nsv1067880 | C1848947 272430 Cold-induced sweating syndrome 1 | | |
NM_004750.4(CRLF1):c.852G>T (p.Trp284Cys) | 9244 | CRLF1 | Pathogenic | 137853927 | RCV000020621; | N | MedGen:C1848947,OMIM:272430 | 19 | 18707705 | 18707705 | NM_004750.4:c.852G>T | NP_004741.1:p.Trp284Cys | NC_000019.9:g.18707705C>A | - | C1848947 272430 Cold-induced sweating syndrome 1 | | |
NM_004750.4(CRLF1):c.845_846delTG (p.Val282GlyfsTer47) | 9244 | CRLF1 | Pathogenic | 137853928 | RCV000210224; | N | MedGen:C1848947,OMIM:272430 | 19 | 18707711 | 18707712 | NM_004750.4:c.845_846delTG | NP_004741.1:p.Val282GlyfsTer47 | NC_000019.9:g.18707711_18707712delCA | OMIM Allelic Variant:604237.0001 | C1848947 272430 Cold-induced sweating syndrome 1 | | |
NM_004750.4(CRLF1):c.829C>T (p.Arg277Ter) | 9244 | CRLF1 | Pathogenic | 137853145 | RCV000006067; | N | MedGen:C1848947,OMIM:272430 | 19 | 18707728 | 18707728 | NM_004750.4:c.829C>T | NP_004741.1:p.Arg277Ter | NC_000019.9:g.18707728G>A | OMIM Allelic Variant:604237.0009 | C1848947 272430 Cold-induced sweating syndrome 1 | | |
NM_004750.4(CRLF1):c.713dupC (p.Pro239Alafs) | 9244 | CRLF1 | Pathogenic | 768727082 | RCV000195773; | N | MedGen:C1848947,OMIM:272430 | 19 | 18707844 | 18707844 | NM_004750.4:c.713dupC | NP_004741.1:p.Pro239Alafs | NC_000019.9:g.18707844dupG | - | C1848947 272430 Cold-induced sweating syndrome 1 | | |
NM_004750.4(CRLF1):c.538C>T (p.Gln180Ter) | 9244 | CRLF1 | Pathogenic | 137853926 | RCV000020619; | N | MedGen:C1848947,OMIM:272430 | 19 | 18709401 | 18709401 | NM_004750.4:c.538C>T | NP_004741.1:p.Gln180Ter | NC_000019.9:g.18709401G>A | - | C1848947 272430 Cold-induced sweating syndrome 1 | | |
NM_004750.4(CRLF1):c.413C>T (p.Pro138Leu) | 9244 | CRLF1 | Pathogenic | 137853930 | RCV000020618; | N | MedGen:C1848947,OMIM:272430 | 19 | 18709696 | 18709696 | NM_004750.4:c.413C>T | NP_004741.1:p.Pro138Leu | NC_000019.9:g.18709696G>A | - | C1848947 272430 Cold-induced sweating syndrome 1 | | |
NM_004750.4(CRLF1):c.397+1G>A | 9244 | CRLF1 | Pathogenic | 137853932 | RCV000020617; | N | MedGen:C1848947,OMIM:272430 | 19 | 18710374 | 18710374 | NM_004750.4:c.397+1G>A | | NC_000019.9:g.18710374C>T | - | C1848947 272430 Cold-induced sweating syndrome 1 | | |
NM_004750.4(CRLF1):c.303delC (p.Asn102Thrfs) | 9244 | CRLF1 | Pathogenic | 137853931 | RCV000020615; | N | MedGen:C1848947,OMIM:272430 | 19 | 18710469 | 18710469 | NM_004750.4:c.303delC | NP_004741.1:p.Asn102Thrfs | NC_000019.9:g.18710469delG | - | C1848947 272430 Cold-induced sweating syndrome 1 | | |
NM_004750.4(CRLF1):c.242G>A (p.Arg81His) | 9244 | CRLF1 | Benign;Pathogenic | 104894670 | RCV000006060; RCV000020614; | N | MedGen:C1848947,OMIM:272430 | 19 | 18710530 | 18710530 | NM_004750.4:c.242G>A | NP_004741.1:p.Arg81His | NC_000019.9:g.18710530C>T | OMIM Allelic Variant:604237.0002 | C1848947 272430 Cold-induced sweating syndrome 1 | | |
NM_004750.4(CRLF1):c.242G>A (p.Arg81His) | 9244 | CRLF1 | Benign;Pathogenic | 104894670 | RCV000006060; RCV000020614; | N | MedGen:C1848947,OMIM:272430 | 19 | 18710530 | 18710530 | NM_004750.4:c.242G>A | NP_004741.1:p.Arg81His | NC_000019.9:g.18710530C>T | OMIM Allelic Variant:604237.0002 | C1848947 272430 Cold-induced sweating syndrome 1 | | |
NM_004750.4(CRLF1):c.226T>G (p.Trp76Gly) | 9244 | CRLF1 | Pathogenic | 137853143 | RCV000006062; | N | MedGen:C1848947,OMIM:272430 | 19 | 18710546 | 18710546 | NM_004750.4:c.226T>G | NP_004741.1:p.Trp76Gly | NC_000019.9:g.18710546A>C | OMIM Allelic Variant:604237.0004 | C1848947 272430 Cold-induced sweating syndrome 1 | | |
NM_004750.4(CRLF1):c.75_77delGCT (p.Leu26del) | 9244 | CRLF1 | Benign | 34503316 | RCV000020620; | N | MedGen:C1848947,OMIM:272430 | 19 | 18717390 | 18717392 | NM_004750.4:c.75_77delGCT | NP_004741.1:p.Leu26del | NC_000019.9:g.18717390_18717392delAGC | - | C1848947 272430 Cold-induced sweating syndrome 1 | | |
NM_004750.4(CRLF1):c.31_53del23 (p.Gln11Valfs) | 9244 | CRLF1 | Pathogenic | 137853929 | RCV000020616; | N | MedGen:C1848947,OMIM:272430 | 19 | 18717414 | 18717436 | NM_004750.4:c.31_53del23 | NP_004741.1:p.Gln11Valfs | NC_000019.9:g.18717414_18717436del23 | - | C1848947 272430 Cold-induced sweating syndrome 1 | | |