2:191750202 |
GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1 |
NA |
not provided | 4602 |
Pathogenic |
2:191765378 |
NM_014905.5(GLS):c.695dup (p.Asp232fs) |
rs1558971345 |
Developmental and epileptic encephalopathy, 71 | 19778 |
Pathogenic |
2:191746051 |
NM_014905.5(GLS):c.241C>T (p.Gln81Ter) |
rs1559310284 |
Developmental and epileptic encephalopathy, 71 | 451 |
Pathogenic |
2:191766752 |
NM_014905.5(GLS):c.815G>A (p.Arg272Lys) |
rs1558972120 |
Developmental and epileptic encephalopathy, 71 | 21152 |
Pathogenic |
2:191795182 |
NM_014905.5(GLS):c.1445C>G (p.Ser482Cys) |
rs1558986214 |
Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development | 49582 |
Pathogenic |
2:191769852 |
NM_014905.5(GLS):c.938C>T (p.Pro313Leu) |
rs1558973667 |
Global developmental delay, progressive ataxia, and elevated glutamine | 24252 |
Pathogenic |
2:191745598 |
NM_014905.5(GLS):c.-212GCA[680] |
NA |
Global developmental delay, progressive ataxia, and elevated glutamine | -2 |
Pathogenic |
2:191769836 |
NM_014905.5(GLS):c.923dup (p.Tyr308Ter) |
rs1212883982 |
Global developmental delay, progressive ataxia, and elevated glutamine | 24236 |
Pathogenic |
2:191788686 |
NM_014905.5(GLS):c.1174G>A (p.Gly392Arg) |
rs1574598079 |
not provided | 43086 |
Uncertain significance |
2:191775046 |
NM_014905.5(GLS):c.1037A>G (p.Lys346Arg) |
NA |
not provided | 29446 |
Uncertain significance |
2:191785869 |
NM_014905.5(GLS):c.1072-2A>C |
NA |
not provided | 40269 |
Likely pathogenic |
2:191785759 |
NM_014905.5(GLS):c.1048AAT[1] (p.Asn351del) |
NA |
not provided | 40159 |
Uncertain significance |
2:191769780 |
NM_014905.5(GLS):c.866A>T (p.Lys289Ile) |
NA |
Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development | 24180 |
Likely pathogenic |
2:191765388 |
NM_014905.5(GLS):c.704A>G (p.Tyr235Cys) |
NA |
Developmental and epileptic encephalopathy, 71 | 19788 |
Uncertain significance |
2:191795192 |
NM_014905.5(GLS):c.1460dup (p.Ile488fs) |
NA |
Developmental and epileptic encephalopathy, 71 | 49592 |
Pathogenic |