Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057520529
rs1057520529
FOXP3
T 0.700 CausalMutation CLINVAR

dbSNP: rs1114167422
rs1114167422
DKC1 ; SNORA56
G 0.700 GeneticVariation CLINVAR

dbSNP: rs121912651
rs121912651
TP53
A 0.700 CausalMutation CLINVAR

dbSNP: rs1441937959
rs1441937959
EFL1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555889984
rs1555889984
RUNX1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs28936375
rs28936375
CPT2
A 0.700 CausalMutation CLINVAR

dbSNP: rs768849283
rs768849283
PRF1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs76992529
rs76992529
TTR
A 0.700 CausalMutation CLINVAR

dbSNP: rs771063992
rs771063992
DNAJC21
T 0.700 CausalMutation CLINVAR

dbSNP: rs774568856
rs774568856
PGM3
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
dbSNP: rs1057517674
rs1057517674
MAD2L2
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
dbSNP: rs1374309197
rs1374309197
TP53BP1
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
dbSNP: rs878855337
rs878855337
SAMD9L
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
dbSNP: rs121918544
rs121918544
TINF2
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
dbSNP: rs28936072
rs28936072
DKC1
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