rs1057516030
|
|
Clinodactyly of the 5th finger
|
TA |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1057519389
|
|
Clinodactyly of the 5th finger
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
rs1060499548
|
|
Clinodactyly of the 5th finger
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.
|
28288113 |
2017 |
rs1060505041
|
|
Clinodactyly of the 5th finger
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1064795559
|
|
Clinodactyly of the 5th finger
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1334099693
|
|
Clinodactyly of the 5th finger
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
|
30661772 |
2019 |
rs1425998598
|
|
Clinodactyly of the 5th finger
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
|
28942966 |
2017 |
rs1553544133
|
|
Clinodactyly of the 5th finger
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1553621496
|
|
Clinodactyly of the 5th finger
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1554121443
|
|
Clinodactyly of the 5th finger
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1554297905
|
|
Clinodactyly of the 5th finger
|
A |
0.700 |
CausalMutation
|
CLINVAR |
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
|
30500825 |
2018 |
rs1554333853
|
|
Clinodactyly of the 5th finger
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
|
28807008 |
2017 |
rs1554603293
|
|
Clinodactyly of the 5th finger
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1554888939
|
|
Clinodactyly of the 5th finger
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1555038111
|
|
Clinodactyly of the 5th finger
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1555174708
|
|
Clinodactyly of the 5th finger
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1555380716
|
|
Clinodactyly of the 5th finger
|
GC |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1555429629
|
|
Clinodactyly of the 5th finger
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1556009247
|
|
Clinodactyly of the 5th finger
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1559155954
|
|
Clinodactyly of the 5th finger
|
CA |
0.700 |
GeneticVariation
|
CLINVAR |
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
|
30980518 |
2019 |
rs1560092224
|
|
Clinodactyly of the 5th finger
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1561964103
|
|
Clinodactyly of the 5th finger
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1567368243
|
|
Clinodactyly of the 5th finger
|
GT |
0.700 |
CausalMutation
|
CLINVAR |
Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome.
|
30267900 |
2019 |
rs1569509136
|
|
Clinodactyly of the 5th finger
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1569525894
|
|
Clinodactyly of the 5th finger
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|