rs1057520529
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1114167422
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs121912651
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1441937959
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555889984
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs28936375
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs768849283
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs76992529
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs771063992
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs774568856
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Through exome sequencing, we identified a novel homozygous mutation (c.1135T>C; p.Phe379Leu) in PGM3 in two siblings with bone marrow failure, severe combined immunodeficiency, renal and intestinal malformations, and a skeletal dysplasia resembling Desbuquois dysplasia.
|
28543917 |
2017 |
rs1057517674
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a child with severe BMF who harbored biallelic inactivating mutations of the translesion DNA synthesis (TLS) gene REV7 (also known as MAD2L2), which encodes the mutant REV7 protein REV7-V85E.
|
27500492 |
2016 |
rs1374309197
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a child with severe BMF who harbored biallelic inactivating mutations of the translesion DNA synthesis (TLS) gene REV7 (also known as MAD2L2), which encodes the mutant REV7 protein REV7-V85E.
|
27500492 |
2016 |
rs878855337
|
|
|
0.010 |
GeneticVariation |
BEFREE |
By targeted sequencing of SAMD9L, we subsequently identified a different missense mutation (c.3587G>C, p.Cys1196Ser) in affected members of the first described family with AP syndrome, Li-AP.
|
27259050 |
2016 |
rs121918544
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a child who presented with ataxia and pancytopenia and was found to have a heterozygous mutation, c.845G>A (Arg282His) in TINF2, a gene recently reported to be mutated in a subset of patients with autosomal dominant dyskeratosis congenita.
|
18979121 |
2008 |
rs28936072
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report a novel missense mutation in DKC1 exon 3 (T113-->C, Ile38Thr) in a Sardinian infant with XL-HHS in whom the disease was characterized by 'T+B-NK-' severe combined immunodeficiency and bone marrow failure.
|
12437656 |
2002 |