rs151344530
|
TFAP2A;TFAP2A-AS2
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs793888540
|
TFAP2A;TFAP2A-AS2
|
Coloboma of optic disc
|
T |
0.700 |
CausalMutation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs793888540
|
TFAP2A;TFAP2A-AS2
|
Branchial anomaly
|
T |
0.700 |
CausalMutation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs793888540
|
TFAP2A;TFAP2A-AS2
|
Low posterior hairline
|
T |
0.700 |
CausalMutation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs793888540
|
TFAP2A;TFAP2A-AS2
|
Ectopic lacrimal punctum
|
T |
0.700 |
CausalMutation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs793888540
|
TFAP2A;TFAP2A-AS2
|
Unilateral conductive hearing impairment
|
T |
0.700 |
CausalMutation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs793888540
|
TFAP2A;TFAP2A-AS2
|
Abnormality of upper lip
|
T |
0.700 |
CausalMutation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs793888540
|
TFAP2A;TFAP2A-AS2
|
Branchio-Oculo-Facial Syndrome
|
T |
0.700 |
CausalMutation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs793888540
|
TFAP2A;TFAP2A-AS2
|
Stenosis of nasolacrimal duct
|
T |
0.700 |
CausalMutation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs793888540
|
TFAP2A;TFAP2A-AS2
|
Premature canities
|
T |
0.700 |
CausalMutation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs793888541
|
TFAP2A;TFAP2A-AS2
|
Low posterior hairline
|
T |
0.700 |
CausalMutation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs793888541
|
TFAP2A;TFAP2A-AS2
|
Branchial anomaly
|
T |
0.700 |
CausalMutation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs793888541
|
TFAP2A;TFAP2A-AS2
|
Atresia of the external auditory canal
|
T |
0.700 |
CausalMutation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs793888541
|
TFAP2A;TFAP2A-AS2
|
Low set ears
|
T |
0.700 |
CausalMutation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs793888541
|
TFAP2A;TFAP2A-AS2
|
Cleft upper lip
|
T |
0.700 |
CausalMutation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs793888541
|
TFAP2A;TFAP2A-AS2
|
Branchio-Oculo-Facial Syndrome
|
T |
0.700 |
CausalMutation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs793888541
|
TFAP2A;TFAP2A-AS2
|
Coloboma of optic disc
|
T |
0.700 |
CausalMutation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs121909574
|
TFAP2A;TFAP2A-AS2
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain.
|
23578821 |
2013 |
rs121909574
|
TFAP2A;TFAP2A-AS2
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain.
|
23578821 |
2013 |
rs151344525
|
TFAP2A;TFAP2A-AS2
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation |
CLINVAR |
Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain.
|
23578821 |
2013 |
rs151344525
|
TFAP2A;TFAP2A-AS2
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain.
|
23578821 |
2013 |
rs151344530
|
TFAP2A;TFAP2A-AS2
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain.
|
23578821 |
2013 |
rs151344530
|
TFAP2A;TFAP2A-AS2
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain.
|
23578821 |
2013 |
rs121909574
|
TFAP2A;TFAP2A-AS2
|
Multiple congenital anomalies
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Genotype-phenotype analysis of the branchio-oculo-facial syndrome.
|
21204207 |
2011 |
rs121909574
|
TFAP2A;TFAP2A-AS2
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Genotype-phenotype analysis of the branchio-oculo-facial syndrome.
|
21204207 |
2011 |