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* If you have new data: please send us a re-evaluation proposal here
Usual name* |
|
HGVS sequence name |
HGVS protein name |
Classification * |
Status * |
Simple variant |
Complex alleles |
|
V4D | exon 2 | c.11T>A | p.(Val4Asp) | Uncertain significance (VOUS) | To be validated |
| | 2019-05-13 | S13* | exon 2 | c.38C>A | p.(Ser13*) | Not classified | To be validated |
| | 2019-05-13 | S15Pfs*86 | exon 2 | c.42del | p.(Ser15Profs*86) | Likely pathogenic | To be validated |
| | 2019-01-22 | E47Rfs*54 | exon 2 | c.138delC | p.(Glu47Argfs*54) | Likely pathogenic | To be validated |
| | 2019-05-13 | K81Nfs | exon 2 | c.243del | p.(Lys81Asnfs*20) | Pathogenic | To be validated |
| | 2019-01-22 | N101LfsX34 | intron 2 | c.300+1G>C | p.(Asn101Leufs*34) | Not classified | To be validated |
| | 2014-07-24 | c.300+1G>A | intron 2 | c.300+1G>A | p.? | Likely pathogenic | To be validated |
| | 2019-01-22 | c.300+2T>G | intron 2 | c.300+2T>G | p.? | Likely pathogenic | To be validated |
| | 2019-01-22 | c.302_303insCTACTTTGAGAGCTACC | exon 3 | c.303_319dup | p.(Leu107Profs*39) | Likely pathogenic | To be validated |
| | 2019-01-22 | F103X | exon 3 | c.308_309del | p.(Phe103*) | Likely pathogenic | To be validated |
| | 2019-01-22 | V109I | exon 3 | c.325G>A | p.(Val109Ile) | Not classified | To be validated |
| | 2019-05-13 | M116R | exon 3 | c.347T>G | p.(Met116Arg) | Likely pathogenic | To be validated |
| | 2019-01-22 | R133C | exon 4 | c.400C>T | p.(Arg134Cys) | Likely pathogenic | To be validated |
| | 2019-01-22 | R134H | exon 4 | c.401G>A | p.(Arg134His) | Likely pathogenic | To be validated |
| | 2019-01-22 | T180A | exon 4 | c.538A>G | p.(Thr180Ala) | Not classified | To be validated |
| | 2019-05-13 | S203P | exon 4 | c.607T>C | p.(Ser203Pro) | Likely pathogenic | To be validated |
| | 2019-01-22 | c.610+1G>C | intron 4 | c.610+1G>C | p.? | Likely pathogenic | To be validated |
| | 2019-01-22 | c.625G>A | exon 5 | c.625G>A | p.(Gly209Arg) | Likely pathogenic | To be validated |
| | 2019-01-22 | D225G | exon 5 | c.674A>G | p.(Asp225Gly) | Uncertain significance (VOUS) | To be validated |
| | 2019-05-13 | A230T | exon 5 | c.688G>A | p.(Ala230Thr) | Not classified | To be validated |
| | 2019-05-13 | T236M | exon 5 | c.707C>T | p.(Thr236Met) | Uncertain significance (VOUS) | To be validated |
| | 2019-05-13 | T236T | exon 5 | c.708G>A | p.(Thr236=) | Not classified | To be validated |
| | 2019-05-13 | c.774-2A>G | intron 5 | c.774-2A>G | p.? | Likely pathogenic | To be validated |
| | 2019-01-21 | C310X | exon 6 | c.933T>A | p.(Cys311*) | Likely pathogenic | To be validated |
| | 2019-01-22 | Y314Tfs | exon 6 | c.940del | p.(Tyr314Thrfs*91) | Likely pathogenic | To be validated |
| | 2019-01-22 | F316V | exon 6 | c.946T>G | p.(Phe316Val) | Not classified | To be validated |
| | 2015-12-04 | P324L | exon 6 | c.971C>T | p.(Pro324Leu) | Likely pathogenic | To be validated |
| | 2019-01-22 | c.1045delC | exon 6 | c.1045del | p.(Leu349Serfs*56) | Likely pathogenic | To be validated |
| | 2019-01-22 | c.1087C>T | exon 6 | c.1087C>T | p.(Arg363Trp) | Likely pathogenic | To be validated |
| | 2019-01-22 | R363Q | exon 6 | c.1088G>A | p.(Arg363Gln) | Not classified | To be validated |
| | 2014-07-24 | R386Q | exon 6 | c.1157G>A | p.(Arg386Gln) | Likely pathogenic | To be validated |
| | 2019-01-22 | c.1172C>A | exon 6 | c.1172C>A | p.(Pro391His) | Likely pathogenic | To be validated |
| | 2019-01-22 | c. 1269_1270delinsA | exon 6 | c.1269_1270delinsT | p.(Leu424Serfs*29) | Not classified | To be validated |
| | 2015-05-16 | c.1269_1270delinsA | exon 6 | c.1269_1270delinsA | p.(Leu424Serfs*29) | Likely pathogenic | To be validated |
| | 2019-01-22 | G427S | exon 6 | c.1279G>A | p.(Gly427Ser) | Pathogenic | To be validated |
| | 2019-01-21 | G437R | exon 6 | c.1309G>A | p.(Gly437Arg) | Pathogenic | To be validated |
| | 2019-01-22 | E444X | exon 6 | c.1330G>T | p.(Glu444*) | Likely pathogenic | To be validated |
| | 2019-01-22 | c.1339G>A | exon 6 | c.1339G>A | p.(Glu447Lys) | Likely pathogenic | To be validated |
| | 2019-01-22 | T449R | exon 6 | c.1346C>G | p.(Thr449Arg) | Likely pathogenic | To be validated |
| | 2019-01-22 |
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