SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs113994176 |
CTG>-,CTGCTG |
Pathogenic, uncertain-significance |
Inframe insertion, coding sequence variant, inframe deletion |
rs113994177 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs193922705 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance, benign-likely-benign, benign |
Intron variant |
rs199826380 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant |
rs200740462 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
rs373761090 |
C>T |
Likely-pathogenic |
Splice donor variant |
rs555499592 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs781900856 |
G>A,C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, synonymous variant |
rs782058451 |
T>C |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
rs782392706 |
C>A,G,T |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
rs782440692 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs782460555 |
G>A,T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, stop gained |
rs782702266 |
C>A |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
rs794729052 |
T>C |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
rs797046139 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs886037753 |
C>A,T |
Pathogenic |
Coding sequence variant, synonymous variant |
rs897549158 |
T>C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
rs1555606936 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1597781765 |
C>T |
Likely-pathogenic |
Splice donor variant |
rs1597782553 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1597801392 |
GCTTCACG>- |
Pathogenic |
Frameshift variant, coding sequence variant |