SH3PXD2B Chromosome 5

SH3 and PX domains 2B
59 variants 59 Health Risk

Upload your DNA to see your personal genotypes for variants in SH3PXD2B.

What This Gene Does
This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous cell types. Mutations in this gene are the cause of Frank-ter Haar syndrome (FTHS), and also Borrone Dermato-Cardio-Skeletal (BDCS) syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Associated Conditions (9)
Frank-Ter Haar syndrome
Inborn genetic diseases
SH3PXD2B-related disorder
Malignant lymphoma
large B-cell
diffuse
Malignant tumor of urinary bladder
Malignant tumor of esophagus
Colon adenocarcinoma
Key Variants
RS112436148
Conflicting classifications of pathogenicity
Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
Health Risk
RS1201658186
Conflicting classifications of pathogenicity
Health Risk
RS138316493
Conflicting classifications of pathogenicity
Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
Health Risk
RS140209484
Conflicting classifications of pathogenicity
Health Risk
RS140645910
Conflicting classifications of pathogenicity
Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
Health Risk
RS141265263
Conflicting classifications of pathogenicity
Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
Health Risk
RS141993560
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142552959
Conflicting classifications of pathogenicity
Frank-Ter Haar syndrome, SH3PXD2B-related disorder, Frank-Ter Haar syndrome
Health Risk
RS143060223
Conflicting classifications of pathogenicity
Frank-Ter Haar syndrome, SH3PXD2B-related disorder, Frank-Ter Haar syndrome
Health Risk
RS143272304
Conflicting classifications of pathogenicity
Frank-Ter Haar syndrome, Inborn genetic diseases, Frank-Ter Haar syndrome
Health Risk
RS143850475
Conflicting classifications of pathogenicity
Health Risk
RS144228973
Conflicting classifications of pathogenicity
Frank-Ter Haar syndrome, SH3PXD2B-related disorder, Frank-Ter Haar syndrome
Health Risk
All Variants (59)
RSID Category Clinical Significance Conditions
RS112436148 Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS1201658186 Health Risk Conflicting classifications of pathogenicity —
RS138316493 Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS140209484 Health Risk Conflicting classifications of pathogenicity —
RS140645910 Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS141265263 Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS141993560 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142552959 Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, SH3PXD2B-related disorder, Frank-Ter Haar syndrome
RS143060223 Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, SH3PXD2B-related disorder, Frank-Ter Haar syndrome
RS143272304 Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Inborn genetic diseases, Frank-Ter Haar syndrome
RS143850475 Health Risk Conflicting classifications of pathogenicity —
RS144228973 Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, SH3PXD2B-related disorder, Frank-Ter Haar syndrome
RS144252446 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144523953 Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS145343254 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145767631 Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS147491999 Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, SH3PXD2B-related disorder, Frank-Ter Haar syndrome
RS148050566 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SH3PXD2B-related disorder, Inborn genetic diseases
RS148498348 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SH3PXD2B-related disorder, Inborn genetic diseases
RS149498667 Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS149519060 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SH3PXD2B-related disorder, Inborn genetic diseases
RS186443822 Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS199704139 Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS199727236 Health Risk Conflicting classifications of pathogenicity —
RS199739437 Health Risk Conflicting classifications of pathogenicity Malignant lymphoma, large B-cell, diffuse
RS200536170 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201324424 Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, SH3PXD2B-related disorder, Frank-Ter Haar syndrome
RS201996778 Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS369555721 Health Risk Conflicting classifications of pathogenicity —
RS372013791 Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS373421449 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373422860 Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS374735849 Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS375297664 Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS539320171 Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS551498843 Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS551814886 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS552171716 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762908120 Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS765472301 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765762255 Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS766153965 Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Inborn genetic diseases, SH3PXD2B-related disorder
RS766920772 Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS780292269 Health Risk Conflicting classifications of pathogenicity SH3PXD2B-related disorder, SH3PXD2B-related disorder
RS79535495 Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS797044638 Health Risk Conflicting classifications of pathogenicity —
RS886060425 Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS932019598 Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS2113311300 Health Risk Likely pathogenic Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS267607046 Health Risk Likely pathogenic Frank-Ter Haar syndrome, Inborn genetic diseases, Frank-Ter Haar syndrome
1 2 Next »
Sign Up to Analyze Your DNA Log In