Full data view for gene PHEX

Information The variants shown are described using the NM_000444.4 transcript reference sequence.

89 entries on 1 page. Showing entries 1 - 89.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Population     

Age at death     

VIP     

Data_av     

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+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+/. - c.1180C>T r.(?) p.(Gln394Ter) Parent #1 - pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 - PubMed: Clausmeyer 2009 - - Germline - - - - - DNA SEQ - - XLHRD Pat2 PubMed: Clausmeyer 2009 family F - Germany - - - - - 1 Johan den Dunnen
+/. 11 c.1180C>T r.(?) p.(Gln394Ter) Unknown - pathogenic g.22132582C>T g.22114464C>T C1180>T - PHEX_000313 - PubMed: Popowska 2000, PubMed: Pronicka 2004 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHRD - PubMed: Popowska 2000, PubMed: Pronicka 2004 patient - - Poland - - - - - 1 Johan den Dunnen
+/. 11 c.1180C>T r.(?) p.(Gln394Ter) Unknown ACMG pathogenic g.22132582C>T g.22114464C>T - - PHEX_000313 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1180C>T r.(?) p.(Gln394Ter) Unknown - pathogenic g.22132582C>T g.22114464C>T - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 1/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+/. 18 c.1806G>A r.(?) p.(Trp602Ter) Unknown - pathogenic g.22239767G>A g.22221650G>A - - PHEX_000313 - PubMed: Gaucher 2009 - - Germline - - - - - DNA MCA, SEQ - - XLHRD - PubMed: Gaucher 2009 family - - France - - - - - 1 Johan den Dunnen
+/. - c.1806G>A r.(?) p.(Trp602Ter) Unknown - pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 - PubMed: Clausmeyer 2009 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHRD Pat1 PubMed: Clausmeyer 2009 patient F - Germany - - - - - 1 Johan den Dunnen
+/. 11 c.1806G>A r.(?) p.(Trp602Ter) Unknown - pathogenic (dominant) g.22239767G>A g.22221650G>A 1807G>A - PHEX_000313 - PubMed: Guven 2017 - - Germline - - - - - DNA SEQ - - XLHRD FamVIIPat2 PubMed: Guven 2017 family, 2 affected (mother/daughter) F - Turkey - - - - - 2 Johan den Dunnen
+/. 11 c.1806G>A r.(?) p.(Trp602Ter) Unknown - pathogenic (dominant) g.22239767G>A g.22221650G>A 1807G>A - PHEX_000313 - PubMed: Guven 2017 - - Germline - - - - - DNA SEQ - - XLHRD FamVIIPat3 PubMed: Guven 2017 daughter F - Turkey - - - - - 1 Johan den Dunnen
+/. 18 c.1806G>A r.(?) p.(Trp602Ter) Unknown ACMG pathogenic g.22239767G>A g.22221650G>A - - PHEX_000313 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 22 c.*231A>G r.? p.? Parent #1 - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 not in 867 control chromosomes PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHRD PatA1 PubMed: Ichikawa 2008 - - - United States African-American - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Parent #1 - likely pathogenic g.22266301A>G g.22248184A>G [*58C>T;*231A>G] - PHEX_000313 not in 867 control chromosomes PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHRD PatB1 PubMed: Ichikawa 2008 - - - United States white - - - - 1 Johan den Dunnen
+/. 22 c.*231A>G r.? p.? Parent #1 - pathogenic g.22266301A>G g.22248184A>G [*58C>T;*231A>G] - PHEX_000313 not in 867 control chromosomes PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHRD PatC1 PubMed: Ichikawa 2008 - - - United States white - - - - 1 Johan den Dunnen
+/. 22 c.*231A>G r.? p.? Parent #1 - pathogenic g.22266301A>G g.22248184A>G [*58C>T;*231A>G] - PHEX_000313 not in 867 control chromosomes PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHRD PatD1 PubMed: Ichikawa 2008 - - - United States white - - - - 1 Johan den Dunnen
+/. 22 c.*231A>G r.? p.? Parent #1 - pathogenic g.22266301A>G g.22248184A>G [*58C>T;*231A>G] - PHEX_000313 not in 867 control chromosomes PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHRD PatE1 PubMed: Ichikawa 2008 - - - United States white - - - - 1 Johan den Dunnen
+/. 22 c.*231A>G r.? p.? Parent #1 - pathogenic g.22266301A>G g.22248184A>G [*58C>T;*231A>G] - PHEX_000313 not in 867 control chromosomes PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHRD PatF1 PubMed: Ichikawa 2008 - - - United States white - - - - 1 Johan den Dunnen
+/. 22 c.*231A>G r.? p.? Parent #1 - pathogenic g.22266301A>G g.22248184A>G [*58C>T;*231A>G] - PHEX_000313 not in 867 control chromosomes PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHRD PatG1/G2 PubMed: Ichikawa 2008 - - - United States white - - - - 2 Johan den Dunnen
?/. 22 c.*231A>G r.? p.(=) Maternal (confirmed) - VUS (!) g.22266301A>G g.22248184A>G - - PHEX_000313 high frequency of variant esp. in male cases PubMed: Mumm 2015 - - Germline - - - - - DNA SEQ - - hypophosphatemia Pat1 PubMed: Mumm 2015 2-generation family, 1 affected, unaffected carrier mother M - United States - - - - - 1 Johan den Dunnen
?/. 22 c.*231A>G r.? p.(=) Maternal (confirmed) - VUS (!) g.22266301A>G g.22248184A>G - - PHEX_000313 high frequency of variant esp. in male cases PubMed: Mumm 2015 - - Germline - - - - - DNA SEQ - - hypophosphatemia Pat2 PubMed: Mumm 2015 2-generation family, 1 affected, unaffected carrier mother M - United States - - - - - 1 Johan den Dunnen
?/. 22 c.*231A>G r.? p.(=) Maternal (confirmed) - VUS (!) g.22266301A>G g.22248184A>G - - PHEX_000313 high frequency of variant esp. in male cases PubMed: Mumm 2015 - - Germline - - - - - DNA SEQ - - hypophosphatemia Pat3 PubMed: Mumm 2015 2-generation family, 1 affected, unaffected carreir mother M - United States - - - - - 1 Johan den Dunnen
?/. 22 c.*231A>G r.? p.(=) Unknown - VUS (!) g.22266301A>G g.22248184A>G - - PHEX_000313 high frequency of variant esp. in male cases PubMed: Mumm 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - hypophosphatemia Pat5 PubMed: Mumm 2015 2-generation family, 1 affected, unaffected parents M - United States - - - - - 1 Johan den Dunnen
?/. 22 c.*231A>G r.? p.(=) Maternal (confirmed) - VUS (!) g.22266301A>G g.22248184A>G - - PHEX_000313 high frequency of variant esp. in male cases PubMed: Mumm 2015 - - Germline - - - - - DNA SEQ - - hypophosphatemia Pat4 PubMed: Mumm 2015 2-generation family, 1 affected, unaffected carrier mother M - United States - - - - - 1 Johan den Dunnen
?/. 22 c.*231A>G r.? p.(=) Unknown - VUS (!) g.22266301A>G g.22248184A>G - - PHEX_000313 high frequency of variant esp. in male cases PubMed: Mumm 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - hypophosphatemia PatF PubMed: Mumm 2015 2-generation family, 1 affected, unaffected non-carrier mother F - United States - - - - - 1 Johan den Dunnen
+?/. - c.*231A>G r.(?) p.(?) Parent #1 - likely pathogenic (dominant) g.22266301A>G - - - PHEX_000313 - PubMed: Smith 2020 - - Germline yes - - - - DNA SEQ - - hypophosphatemia patients PubMed: Smith 2020 comparison XLHT cases with *231A>G cases F;M - United States - - - - - 30 Johan den Dunnen
+?/. 22 c.*231A>G r.(?) p.(?) Unknown ACMG likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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