Total 20 pathogenic variants reported for Autosomal dominant hypophosphatemic rickets 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_020638.3(FGF23):c.527G>A (p.Arg176Gln) SNV
Germline		 Chr12:4370572 Pathogenic Autosomal dominant hypophosphatemic rickets
Condition: not provided		 Criteria Provided
Single Submitter
 CA117217 rs_104894347

2 SubmittersRCV000005328RCV000254829
NM_020638.3(FGF23):c.535C>T (p.Arg179Trp) SNV
Germline		 Chr12:4370564 Pathogenic/Likely pathogenic Autosomal dominant hypophosphatemic rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA117218 rs_28937882

4 SubmittersRCV000005329RCV000424624
NM_020638.3(FGF23):c.211A>G (p.Ser71Gly) SNV
Germline		 Chr12:4379372 Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic, familial, 1
Tumoral calcinosis, hyperphosphatemic, familial, 2
Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
Tumoral calcinosis, hyperphosphatemic, familial, 2
Autosomal dominant hypophosphatemic rickets
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA117219 rs_104894342

7 SubmittersRCV000005330RCV000662354RCV000984806RCV005007825RCV000412723
NM_020638.3(FGF23):c.162G>C (p.Gln54His) SNV
Germline		 Chr12:4379421 Likely pathogenic Autosomal dominant hypophosphatemic rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA213692 rs_193922701

2 SubmittersRCV000029797RCV003456360
NM_020638.3(FGF23):c.536G>A (p.Arg179Gln) SNV
Germline		 Chr12:4370563 Pathogenic Autosomal dominant hypophosphatemic rickets
Condition: not provided
Autosomal dominant hypophosphatemic rickets
Tumoral calcinosis, hyperphosphatemic, familial, 2
Short stature
Hypophosphatemic rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA213694 rs_193922702

7 SubmittersRCV000029798RCV001224010RCV002482917RCV005245482RCV001843462
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter) SNV
Germline		 ChrX:22247942 Pathogenic/Likely pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets
Autosomal dominant hypophosphatemic rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603470 rs_886041227

10 SubmittersRCV000351204RCV000505449RCV002221523
NM_020638.3(FGF23):c.*1772G>A SNV
Germline		 Chr12:4368571 Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic, familial, 2
Autosomal dominant hypophosphatemic rickets		 Criteria Provided
Conflicting Classifications
 CA10632747 rs_13312800

1 SubmittersRCV000296184RCV000395055
NM_020638.3(FGF23):c.*1886C>A SNV
Germline		 Chr12:4368457 Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic, familial, 2
Autosomal dominant hypophosphatemic rickets		 Criteria Provided
Conflicting Classifications
 CA10637444 rs_183802802

1 SubmittersRCV000325522RCV000384718
NM_020638.3(FGF23):c.*1803C>T SNV
Germline		 Chr12:4368540 Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic, familial, 2
Autosomal dominant hypophosphatemic rickets		 Criteria Provided
Conflicting Classifications
 CA10637447 rs_13312801

1 SubmittersRCV000349978RCV000290287
NM_020638.3(FGF23):c.551A>G (p.Asp184Gly) SNV
Germline		 Chr12:4370548 Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic, familial, 2
Autosomal dominant hypophosphatemic rickets
Condition: not provided
Tumoral calcinosis, hyperphosphatemic, familial, 2
Autosomal dominant hypophosphatemic rickets		 Criteria Provided
Conflicting Classifications
 CA6395655 rs_144925325

3 SubmittersRCV000381884RCV000322590RCV001321211RCV005008285
NM_020638.3(FGF23):c.331G>A (p.Glu111Lys) SNV
Germline		 Chr12:4370768 Conflicting classifications of pathogenicity Autosomal dominant hypophosphatemic rickets
Tumoral calcinosis, hyperphosphatemic, familial, 2
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6395701 rs_765478662

3 SubmittersRCV000293591RCV000383240RCV002520806RCV003765808
NM_020638.3(FGF23):c.515C>T (p.Pro172Leu) SNV
Germline		 Chr12:4370584 Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic, familial, 2
Condition: not provided
Autosomal dominant hypophosphatemic rickets		 Criteria Provided
Conflicting Classifications
 CA6395666 rs_573322878

2 SubmittersRCV000287620RCV001859846RCV000328541
NM_020638.3(FGF23):c.*1398T>A SNV
Germline		 Chr12:4368945 Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic, familial, 2
Autosomal dominant hypophosphatemic rickets		 Criteria Provided
Conflicting Classifications
 CA231756424 rs_531815578

1 SubmittersRCV001109074RCV001109073
NM_020638.3(FGF23):c.*235C>T SNV
Germline		 Chr12:4370108 Conflicting classifications of pathogenicity Autosomal dominant hypophosphatemic rickets
Tumoral calcinosis, hyperphosphatemic, familial, 2		 Criteria Provided
Conflicting Classifications
 CA231757095 rs_566868058

1 SubmittersRCV001111512RCV001111513
NM_020638.3(FGF23):c.249G>A (p.Val83=) SNV
Germline		 Chr12:4372660 Conflicting classifications of pathogenicity Autosomal dominant hypophosphatemic rickets
Tumoral calcinosis, hyperphosphatemic, familial, 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6395731 rs_753676774

2 SubmittersRCV001111602RCV001111603RCV005093513
NM_020638.3(FGF23):c.138A>G (p.Thr46=) SNV
Germline		 Chr12:4379445 Conflicting classifications of pathogenicity Autosomal dominant hypophosphatemic rickets
Tumoral calcinosis, hyperphosphatemic, familial, 2		 Criteria Provided
Conflicting Classifications
 CA6395775 rs_368115734

1 SubmittersRCV001111607RCV001111606
NM_020638.3(FGF23):c.88C>T (p.Pro30Ser) SNV
Germline		 Chr12:4379495 Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic, familial, 2
Condition: not provided
Autosomal dominant hypophosphatemic rickets
Tumoral calcinosis, hyperphosphatemic, familial, 2
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA6395782 rs_758725402

5 SubmittersRCV001196710RCV001859187RCV002491596RCV002561047RCV005432612
NM_020638.3(FGF23):c.559C>G (p.Arg187Gly) SNV
Germline		 Chr12:4370540 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant hypophosphatemic rickets
Tumoral calcinosis, hyperphosphatemic, familial, 2		 Criteria Provided
Conflicting Classifications
 CA6395650 rs_190841442

2 SubmittersRCV001964633RCV002484601
NM_020638.3(FGF23):c.211+1G>A SNV
Germline		 Chr12:4379371 Likely pathogenic Tumoral calcinosis, hyperphosphatemic, familial, 2
Autosomal dominant hypophosphatemic rickets		 Criteria Provided
Single Submitter

1 SubmittersRCV005009044