Total 351 pathogenic variants reported for Familial X-linked hypophosphatemic vitamin D refractory rickets 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000444.6(PHEX):c.119-1G>A SNV
Germline		 ChrX:22038468 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets No Assertion Criteria Provided
 CA412564713 rs_2146979490

1 SubmittersRCV000011561
NM_000444.6(PHEX):c.119-1G>C SNV
Germline		 ChrX:22038468 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets No Assertion Criteria Provided
 CA412564715 rs_2146979490

1 SubmittersRCV000011562
NM_000444.6(PHEX):c.830T>A (p.Leu277Ter) SNV
Germline		 ChrX:22094080 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Single Submitter
 CA255557 rs_137853268

2 SubmittersRCV000011563RCV005089228
NM_000444.6(PHEX):c.254G>A (p.Cys85Tyr) SNV
Germline		 ChrX:22047116 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Single Submitter
 CA255559 rs_137853269

2 SubmittersRCV000011564RCV001851795
NM_000444.6(PHEX):c.1664T>C (p.Leu555Pro) SNV
Germline		 ChrX:22212922 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Single Submitter
 CA255560 rs_137853270

2 SubmittersRCV000011566RCV001202583
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter) SNV
Germline		 ChrX:22212957 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided
Hypophosphataemia or rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA255561 rs_137853271

11 SubmittersRCV000011569RCV000414471RCV006605183
NM_000444.6(PHEX):c.1404+2T>G SNV
Germline		 ChrX:22133626 Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA260501 rs_193922454

1 SubmittersRCV000030352
NM_000444.6(PHEX):c.1589G>A (p.Trp530Ter) SNV
Germline		 ChrX:22190446 Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA260502 rs_193922455

2 SubmittersRCV000030353RCV001381407
NM_000444.6(PHEX):c.1949T>C (p.Leu650Pro) SNV
Germline		 ChrX:22226492 Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA260504 rs_193922456

2 SubmittersRCV000030354RCV001852599
NM_000444.6(PHEX):c.1999G>T (p.Gly667Ter) SNV
Germline		 ChrX:22227540 Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA260506 rs_193922457

2 SubmittersRCV000030355RCV001220680
NM_000444.6(PHEX):c.318G>A (p.Trp106Ter) SNV
Germline		 ChrX:22047180 Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA260508 rs_193922458

2 SubmittersRCV000030356RCV001211408
NM_000444.6(PHEX):c.349+1G>C SNV
Germline		 ChrX:22047212 Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA260510 rs_193922459

3 SubmittersRCV000030357RCV000486450
NM_000444.6(PHEX):c.2214G>A (p.Thr738=) SNV
Germline		 ChrX:22247917 Conflicting classifications of pathogenicity Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Conflicting Classifications
 CA242147 rs_140742016

3 SubmittersRCV000176266RCV001168751
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) SNV
Germline		 ChrX:22033015 Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets
not specified
Condition: not provided
PHEX-related disorder		 Criteria Provided
Conflicting Classifications
 CA10367951 rs_147859619

8 SubmittersRCV000366699RCV000435979RCV002057060RCV003955245
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg) SNV
Germline		 ChrX:22219070 Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided
Vitamin D-dependent rickets, type 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10576256 rs_875989883

8 SubmittersRCV000211521RCV000396672RCV000578203
NM_000444.6(PHEX):c.1079+1G>A SNV
Germline		 ChrX:22099152 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588759 rs_886039583

3 SubmittersRCV000255760RCV005238810
NM_000444.6(PHEX):c.1543C>T (p.Gln515Ter) SNV
Germline		 ChrX:22178333 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603445 rs_886041361

3 SubmittersRCV000333172RCV000505394
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

11 SubmittersRCV000351204RCV000505449RCV002221523
NM_000444.6(PHEX):c.733-1G>A SNV
Germline		 ChrX:22093982 Pathogenic/Likely pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603559 rs_886041223

4 SubmittersRCV000375232RCV005044520
NM_000444.6(PHEX):c.1080-1G>A SNV
Germline		 ChrX:22111466 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603569 rs_886041695

2 SubmittersRCV000350821RCV000763206
NM_000444.6(PHEX):c.1601C>T (p.Pro534Leu) SNV
Germline		 ChrX:22190458 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets
Hypophosphatemic rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603575 rs_886041363

5 SubmittersRCV000260839RCV000505461RCV001843504
NM_000444.6(PHEX):c.1645+1G>A SNV
Germline		 ChrX:22190503 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603576 rs_886041225

6 SubmittersRCV000336154RCV000505469
NM_000444.6(PHEX):c.1587-1G>A SNV
Germline		 ChrX:22190443 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603648 rs_886041839

4 SubmittersRCV000269158RCV001169961RCV005895482
NM_000444.6(PHEX):c.2071-1G>A SNV
Germline		 ChrX:22245332 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603657 rs_886041374

4 SubmittersRCV000392446RCV000505481
NM_000444.6(PHEX):c.664-1G>A SNV
Germline		 ChrX:22090428 Pathogenic/Likely pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603713 rs_886041529

3 SubmittersRCV000297789RCV005208132
NM_000444.6(PHEX):c.1367G>A (p.Trp456Ter) SNV
Germline		 ChrX:22133587 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603714 rs_886041359

2 SubmittersRCV000368437RCV000505473
NM_000444.6(PHEX):c.1645C>T (p.Arg549Ter) SNV
Germline		 ChrX:22190502 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603715 rs_886041224

7 SubmittersRCV000280838RCV002250611
NM_000444.6(PHEX):c.1979G>A (p.Trp660Ter) SNV
Germline		 ChrX:22227520 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets
Hypophosphatemic rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603718 rs_886041369

4 SubmittersRCV000285863RCV000505395RCV001843505
NM_000444.6(PHEX):c.2104C>T (p.Arg702Ter) SNV
Germline		 ChrX:22245366 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets
PHEX-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603719 rs_886041226

7 SubmittersRCV000315034RCV000505471RCV003401222
NM_000444.6(PHEX):c.1202C>T (p.Pro401Leu) SNV
Germline		 ChrX:22114486 Conflicting classifications of pathogenicity Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets
Intellectual disability		 Criteria Provided
Conflicting Classifications
 CA10368202 rs_145778165

4 SubmittersRCV000265639RCV001167037RCV005625509
NM_000444.6(PHEX):c.*227C>G SNV
Germline		 ChrX:22248180 Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided
PHEX-related disorder		 Criteria Provided
Conflicting Classifications
 CA10646096 rs_765787001

3 SubmittersRCV000405914RCV006263917RCV003902450
NM_000444.6(PHEX):c.1026C>T (p.Arg342=) SNV
Germline		 ChrX:22099098 Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10368176 rs_746847960

2 SubmittersRCV000373854RCV005090639
NM_000444.6(PHEX):c.118+7G>T SNV
Germline		 ChrX:22033130 Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided
not specified
Hypophosphatemic rickets
PHEX-related disorder		 Criteria Provided
Conflicting Classifications
 CA10367962 rs_534550003

7 SubmittersRCV000312989RCV000920929RCV001796022RCV001843517RCV003950312
NM_000444.6(PHEX):c.957G>A (p.Lys319=) SNV
Germline		 ChrX:22099029 Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10368164 rs_373261521

3 SubmittersRCV000259231RCV000517603RCV002523829
NM_000444.6(PHEX):c.1025G>A (p.Arg342His) SNV
Germline		 ChrX:22099097 Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10368175 rs_376461141

3 SubmittersRCV000319071RCV002523830
NM_000444.6(PHEX):c.1374T>C (p.Asp458=) SNV
Germline		 ChrX:22133594 Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10368226 rs_370746437

2 SubmittersRCV000320407RCV003766115
NM_000444.6(PHEX):c.500G>A (p.Trp167Ter) SNV
Germline		 ChrX:22077539 Pathogenic/Likely pathogenic Condition: not provided
Thyroid cancer, nonmedullary, 1
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16043223 rs_1057517789

4 SubmittersRCV000413519RCV005900664RCV006277825
NM_000444.6(PHEX):c.2237G>T (p.Cys746Phe) SNV
Germline		 ChrX:22247940 Likely pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16043228 rs_1057517799

3 SubmittersRCV000413405RCV004545879
NM_000444.6(PHEX):c.2159C>A (p.Ala720Glu) SNV
Germline		 ChrX:22247862 Likely pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16043249 rs_1057517798

2 SubmittersRCV000414545RCV005055012
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter) SNV
Germline		 ChrX:22096976 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets
Hypophosphatemic rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16043251 rs_866429868

10 SubmittersRCV000412793RCV000505415RCV001843518
NM_000444.6(PHEX):c.58C>T (p.Arg20Ter) SNV
Germline		 ChrX:22033063 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16608388 rs_770573978

5 SubmittersRCV000438600RCV000505445
NM_000444.6(PHEX):c.185C>T (p.Ala62Val) SNV
Germline		 ChrX:22038535 Conflicting classifications of pathogenicity not specified
Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Conflicting Classifications
 CA10367985 rs_145393882

4 SubmittersRCV000433201RCV001063987RCV003133256
NM_000444.6(PHEX):c.849+1G>A SNV
Germline		 ChrX:22094100 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16608815 rs_1057521144

2 SubmittersRCV000425906RCV006449272
NM_000444.6(PHEX):c.1739A>G (p.His580Arg) SNV
Germline		 ChrX:22219074 Likely pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16608818 rs_1057521800

2 SubmittersRCV000444535RCV000678304
NM_000444.6(PHEX):c.436+4A>G SNV
Germline		 ChrX:22076478 Conflicting classifications of pathogenicity Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Conflicting Classifications
 CA16609165 rs_1057520344

3 SubmittersRCV000436155RCV004545881
NM_000444.6(PHEX):c.850-2A>G SNV
Germline		 ChrX:22096953 Conflicting classifications of pathogenicity Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Conflicting Classifications
 CA16621316 rs_1064793226

3 SubmittersRCV000486814RCV002283482
NM_000444.6(PHEX):c.1382C>A (p.Thr461Lys) SNV
Germline		 ChrX:22133602 Conflicting classifications of pathogenicity Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Conflicting Classifications
 CA16621323 rs_374873766

3 SubmittersRCV000487357RCV004760529
NM_000444.6(PHEX):c.1482+1G>A SNV
Germline		 ChrX:22168390 Pathogenic/Likely pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16621324 rs_1064793228

4 SubmittersRCV000482782RCV002250634
NM_000444.6(PHEX):c.1714G>A (p.Gly572Ser) SNV
Germline		 ChrX:22219049 Pathogenic/Likely pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16621331 rs_1064795106

3 SubmittersRCV000481780RCV005044721
NM_000444.6(PHEX):c.2079C>G (p.Cys693Trp) SNV
Germline		 ChrX:22245341 Likely pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16621340 rs_1064796845

3 SubmittersRCV000478394RCV002248710
NM_000444.6(PHEX):c.1366T>C (p.Trp456Arg) SNV
Germline		 ChrX:22133586 Conflicting classifications of pathogenicity Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Conflicting Classifications
 CA412574676 rs_1085308012

3 SubmittersRCV000488975RCV000505465
NM_000444.6(PHEX):c.118+1G>T SNV
Germline		 ChrX:22033124 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412564385 rs_1131691731

3 SubmittersRCV000493306RCV000505413
NM_000444.6(PHEX):c.1302+1G>T SNV
Germline		 ChrX:22114587 Pathogenic/Likely pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412573820 rs_1131691841

3 SubmittersRCV000493272RCV005239093
NM_000444.6(PHEX):c.251C>A (p.Ala84Asp) SNV
Germline		 ChrX:22047113 Conflicting classifications of pathogenicity Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Conflicting Classifications
 CA412567626 rs_1556014284

2 SubmittersRCV000498627RCV005869522
NM_000444.6(PHEX):c.397C>T (p.Gln133Ter) SNV
Germline		 ChrX:22076435 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412571122 rs_151306376

4 SubmittersRCV000497462RCV001196900
NM_000444.6(PHEX):c.119-3C>G SNV
Germline		 ChrX:22038466 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA645509369 rs_1556012055

1 SubmittersRCV000505464
NM_000444.6(PHEX):c.142C>T (p.Gln48Ter) SNV
Germline		 ChrX:22038492 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412564842 rs_202074612

2 SubmittersRCV000505418RCV006463176
NM_000444.6(PHEX):c.181G>T (p.Glu61Ter) SNV
Germline		 ChrX:22038531 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412566013 rs_770630990

1 SubmittersRCV000505463
NM_000444.6(PHEX):c.187+1G>T SNV
Germline		 ChrX:22038538 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412566073 rs_1556012100

1 SubmittersRCV000505410
NM_000444.6(PHEX):c.230G>T (p.Cys77Phe) SNV
Germline		 ChrX:22047092 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412567578 rs_1556014263

2 SubmittersRCV001035982RCV000505416
NM_000444.6(PHEX):c.253T>C (p.Cys85Arg) SNV
Germline		 ChrX:22047115 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412567630 rs_1556014287

1 SubmittersRCV000505475
NM_000444.6(PHEX):c.415T>A (p.Tyr139Asn) SNV
Germline		 ChrX:22076453 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412571162 rs_1556020460

1 SubmittersRCV000505492
NM_000444.6(PHEX):c.436+6T>C SNV
Germline		 ChrX:22076480 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA645509372 rs_1556020485

2 SubmittersRCV000505454
NM_000444.6(PHEX):c.467T>C (p.Leu156Pro) SNV
Germline		 ChrX:22077506 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412571292 rs_1556020752

1 SubmittersRCV000505444
NM_000444.6(PHEX):c.591A>G (p.Gln197=) SNV
Germline		 ChrX:22077630 Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA515429669 rs_1556020818

6 SubmittersRCV000505462RCV001051990RCV005900924
NM_000444.6(PHEX):c.621T>G (p.Tyr207Ter) SNV
Germline		 ChrX:22077660 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Multiple Submitters
No Conflicts
 CA412571620 rs_771208171

2 SubmittersRCV000505478
NM_000444.6(PHEX):c.679C>A (p.Leu227Ile) SNV
Germline		 ChrX:22090444 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412572024 rs_1556023495

1 SubmittersRCV000505459
NM_000444.6(PHEX):c.707T>C (p.Leu236Pro) SNV
Germline		 ChrX:22090472 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412572084 rs_1556023505

1 SubmittersRCV000505412
NM_000444.6(PHEX):c.732+5G>A SNV
Germline		 ChrX:22090502 Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA645509375 rs_1556023528

2 SubmittersRCV000505460RCV002524417
NM_000444.6(PHEX):c.732+5G>C SNV
Germline		 ChrX:22090502 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA645509376 rs_1556023528

1 SubmittersRCV000505397
NM_000444.6(PHEX):c.832G>T (p.Glu278Ter) SNV
Germline		 ChrX:22094082 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412572474 rs_1556024541

1 SubmittersRCV000505485
NM_000444.6(PHEX):c.933+1G>T SNV
Germline		 ChrX:22097039 Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided
PHEX-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412572721 rs_1556025314

4 SubmittersRCV000505479RCV001865642RCV004730964
NM_000444.6(PHEX):c.1022T>A (p.Val341Asp) SNV
Germline		 ChrX:22099094 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412572930 rs_1556026027

1 SubmittersRCV000505488
NM_000444.6(PHEX):c.1103G>A (p.Trp368Ter) SNV
Germline		 ChrX:22111490 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412573124 rs_1556029499

3 SubmittersRCV000505455RCV001381240
NM_000444.6(PHEX):c.1216T>C (p.Cys406Arg) SNV
Germline		 ChrX:22114500 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412573387 rs_1556030465

2 SubmittersRCV001060115RCV000505400
NM_000444.6(PHEX):c.1297G>T (p.Glu433Ter) SNV
Germline		 ChrX:22114581 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Single Submitter
 CA412573786 rs_1556030502

2 SubmittersRCV000505437RCV005900925
NM_000444.6(PHEX):c.1303-1G>C SNV
Germline		 ChrX:22133522 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412574523 rs_1556036014

1 SubmittersRCV000505495
NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp) SNV
Germline		 ChrX:22133579 Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA327525253 rs_202164519

5 SubmittersRCV000505504RCV002056895RCV003243160RCV003403182
NM_000444.6(PHEX):c.1404G>C (p.Lys468Asn) SNV
Germline		 ChrX:22133624 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10368231 rs_754449807

2 SubmittersRCV000505436RCV001377690
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu) SNV
Germline		 ChrX:22168313 Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412573942 rs_375593493

3 SubmittersRCV000505408RCV001221993
NM_000444.6(PHEX):c.1482+5G>C SNV
Germline		 ChrX:22168394 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA645509383 rs_1269067103

3 SubmittersRCV001044977RCV000505489
NM_000444.6(PHEX):c.1483-2A>G SNV
Germline		 ChrX:22178271 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412574700 rs_1556070724

1 SubmittersRCV000505407
NM_000444.6(PHEX):c.1523A>C (p.Gln508Pro) SNV
Germline		 ChrX:22178313 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412574864 rs_1556070890

1 SubmittersRCV000505458
NM_000444.6(PHEX):c.1586+1G>A SNV
Germline		 ChrX:22178377 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412575008 rs_1064796928

2 SubmittersRCV000505483RCV001215404
NM_000444.6(PHEX):c.1590G>C (p.Trp530Cys) SNV
Germline		 ChrX:22190447 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412575027 rs_1556091855

1 SubmittersRCV000505403
NM_000444.6(PHEX):c.1700+2T>C SNV
Germline		 ChrX:22212960 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Hypophosphatemic rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412575713 rs_1556128253

2 SubmittersRCV000505466RCV001843308
NM_000444.6(PHEX):c.1706T>C (p.Leu569Pro) SNV
Germline		 ChrX:22219041 Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA412575727 rs_1556135242

3 SubmittersRCV000505477RCV002524419
NM_000444.6(PHEX):c.1718C>A (p.Ala573Asp) SNV
Germline		 ChrX:22219053 Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412575749 rs_1556135308

2 SubmittersRCV000505419RCV002524420
NM_000444.6(PHEX):c.1735G>C (p.Gly579Arg) SNV
Germline		 ChrX:22219070 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412575782 rs_875989883

1 SubmittersRCV000505502
NM_000444.6(PHEX):c.1753G>A (p.Gly585Arg) SNV
Germline		 ChrX:22219088 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412575822 rs_1556135467

2 SubmittersRCV000505487RCV001340748
NM_000444.6(PHEX):c.1754G>A (p.Gly585Glu) SNV
Germline		 ChrX:22219089 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412575823 rs_1556135477

1 SubmittersRCV000505405
NM_000444.6(PHEX):c.1763A>G (p.Asn588Ser) SNV
Germline		 ChrX:22219098 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Single Submitter
 CA412575846 rs_772130004

2 SubmittersRCV000505440RCV005900921
NM_000444.6(PHEX):c.1768+1G>A SNV
Germline		 ChrX:22219104 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412575860 rs_886041296

4 SubmittersRCV000505392RCV003558428
NM_000444.6(PHEX):c.1936G>C (p.Asp646His) SNV
Germline		 ChrX:22226479 Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412574202 rs_1556148532

2 SubmittersRCV000505472RCV001207802
NM_000444.6(PHEX):c.1952G>C (p.Arg651Pro) SNV
Germline		 ChrX:22226495 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412574236 rs_748792378

3 SubmittersRCV000505429RCV001092573
NM_000444.6(PHEX):c.1965+1G>A SNV
Germline		 ChrX:22226509 Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412574267 rs_1240767654

3 SubmittersRCV000505482RCV003558427
NM_000444.6(PHEX):c.1971C>G (p.Tyr657Ter) SNV
Germline		 ChrX:22227512 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided
Nonpapillary renal cell carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412574293 rs_1556151071

3 SubmittersRCV000505417RCV001857231RCV005900926
NM_000444.6(PHEX):c.2044C>T (p.Gln682Ter) SNV
Germline		 ChrX:22227585 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412574455 rs_1556151545

2 SubmittersRCV001070383RCV000505447
NM_000444.6(PHEX):c.2078G>A (p.Cys693Tyr) SNV
Germline		 ChrX:22245340 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412575179 rs_1556200989

2 SubmittersRCV001064981RCV000505399
NM_000444.6(PHEX):c.2147+3A>T SNV
Germline		 ChrX:22245412 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA645509399 rs_1556201217

1 SubmittersRCV000505480
NM_000444.6(PHEX):c.2148-2A>G SNV
Germline		 ChrX:22247849 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Thyroid cancer, nonmedullary, 1
Nonpapillary renal cell carcinoma		 Criteria Provided
Single Submitter
 CA412575338 rs_1556205815

2 SubmittersRCV000505467RCV005900923RCV005900922
NM_000444.6(PHEX):c.2198G>C (p.Cys733Ser) SNV
Germline		 ChrX:22247901 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412575461 rs_1057517981

2 SubmittersRCV000505438RCV001307376
NM_000444.6(PHEX):c.2245T>C (p.Trp749Arg) SNV
Germline		 ChrX:22247948 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412575565 rs_1556206403

3 SubmittersRCV000505453RCV001210936
NM_000444.6(PHEX):c.1899+1G>A SNV
Germline		 ChrX:22221744 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412573927 rs_1556138769

3 SubmittersRCV000990540RCV000516827
NM_000444.6(PHEX):c.1037A>G (p.Tyr346Cys) SNV
Germline		 ChrX:22099109 Pathogenic/Likely pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412572957 rs_1556026033

3 SubmittersRCV000521636RCV000990519
NM_000444.6(PHEX):c.1218T>A (p.Cys406Ter) SNV
Germline		 ChrX:22114502 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412573392 rs_1416252114

3 SubmittersRCV000579166RCV005864517
NM_000444.6(PHEX):c.501G>A (p.Trp167Ter) SNV
Germline		 ChrX:22077540 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412571357 rs_1556020770

5 SubmittersRCV000625611RCV001218566
NM_000444.6(PHEX):c.*231A>G SNV
Germline		 ChrX:22248184 Conflicting classifications of pathogenicity Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets
not specified
PHEX-related disorder		 Criteria Provided
Conflicting Classifications
 CA327534681 rs_946863800

9 SubmittersRCV000734002RCV001809791RCV004768623RCV004753024
NM_000444.6(PHEX):c.1875T>G (p.Tyr625Ter) SNV
Germline		 ChrX:22221719 Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412573869 rs_1400504292

3 SubmittersRCV000761325RCV001049547
NM_000444.6(PHEX):c.2140C>T (p.Gln714Ter) SNV
Germline		 ChrX:22245402 Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412575316 rs_1569442206

2 SubmittersRCV000761326RCV004721583
NM_000444.6(PHEX):c.733-1G>C SNV
Germline		 ChrX:22093982 Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412572251 rs_886041223

4 SubmittersRCV000850582RCV001858474
NM_000444.6(PHEX):c.444T>C (p.Ile148=) SNV
Germline		 ChrX:22077483 Conflicting classifications of pathogenicity Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Conflicting Classifications
 CA10368043 rs_145881500

2 SubmittersRCV000926532RCV001169464
NM_000444.6(PHEX):c.254G>C (p.Cys85Ser) SNV
Germline		 ChrX:22047116 Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412567632 rs_137853269

2 SubmittersRCV000990506RCV001869364
NM_000444.6(PHEX):c.349+1G>A SNV
Germline		 ChrX:22047212 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412568178 rs_193922459

2 SubmittersRCV000990507RCV003558624
NM_000444.6(PHEX):c.422C>T (p.Ser141Phe) SNV
Germline		 ChrX:22076460 Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412571179 rs_1602273900

2 SubmittersRCV000990508RCV001858724
NM_000444.6(PHEX):c.436+5G>T SNV
Germline		 ChrX:22076479 Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA915950842 rs_1602273945

2 SubmittersRCV000990509RCV005092983
NM_000444.6(PHEX):c.540G>A (p.Trp180Ter) SNV
Germline		 ChrX:22077579 Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412571440 rs_1602274883

3 SubmittersRCV000990510RCV001389692
NM_000444.6(PHEX):c.865G>T (p.Glu289Ter) SNV
Unknown		 ChrX:22096970 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412572564 rs_1602290398

1 SubmittersRCV000990515
NM_000444.6(PHEX):c.934-1G>T SNV
Germline		 ChrX:22099005 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412572730 rs_1602292528

2 SubmittersRCV000990516RCV001039862
NM_000444.6(PHEX):c.1102T>C (p.Trp368Arg) SNV
Unknown		 ChrX:22111489 Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412573120 rs_1602303865

1 SubmittersRCV000990520
NM_000444.6(PHEX):c.1157G>A (p.Trp386Ter) SNV
Germline		 ChrX:22111544 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412573248 rs_1602304005

2 SubmittersRCV000990521RCV001383914
NM_000444.6(PHEX):c.1208G>A (p.Trp403Ter) SNV
Germline		 ChrX:22114492 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412573365 rs_1602307078

2 SubmittersRCV000990522RCV001232657
NM_000444.6(PHEX):c.1217G>A (p.Cys406Tyr) SNV
Unknown		 ChrX:22114501 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412573389 rs_1602307107

1 SubmittersRCV000990524
NM_000444.6(PHEX):c.1402A>T (p.Lys468Ter) SNV
Germline		 ChrX:22133622 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided
Nonpapillary renal cell carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412574796 rs_1602324630

3 SubmittersRCV000990526RCV002549747RCV005912178
NM_000444.6(PHEX):c.1586+5G>A SNV
Germline		 ChrX:22178381 Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA915950812 rs_1602363550

2 SubmittersRCV000990529RCV001049087
NM_000444.6(PHEX):c.1646G>C (p.Arg549Pro) SNV
Germline		 ChrX:22212904 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412575590 rs_1602395717

2 SubmittersRCV000990530RCV002549748
NM_000444.6(PHEX):c.1714G>T (p.Gly572Cys) SNV
Unknown		 ChrX:22219049 Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412575744 rs_1064795106

1 SubmittersRCV000990531
NM_000444.6(PHEX):c.1718C>T (p.Ala573Val) SNV
Germline		 ChrX:22219053 Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412575751 rs_1556135308

2 SubmittersRCV000990532RCV003688891
NM_000444.6(PHEX):c.1741G>T (p.Glu581Ter) SNV
Unknown		 ChrX:22219076 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412575792 rs_1602402229

1 SubmittersRCV000990533
NM_000444.6(PHEX):c.1750C>T (p.His584Tyr) SNV
Germline		 ChrX:22219085 Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412575814 rs_1602402258

2 SubmittersRCV000990534RCV001858725
NM_000444.6(PHEX):c.1769-1G>T SNV
Unknown		 ChrX:22221612 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Single Submitter
 CA412573415 rs_1602405079

2 SubmittersRCV000990535RCV005912179
NM_000444.6(PHEX):c.1825G>T (p.Glu609Ter) SNV
Germline		 ChrX:22221669 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412573656 rs_1602405239

2 SubmittersRCV000990537RCV005092984
NM_000444.6(PHEX):c.1862A>C (p.Gln621Pro) SNV
Germline		 ChrX:22221706 Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA412573835 rs_1602405293

2 SubmittersRCV000990539RCV003558625
NM_000444.6(PHEX):c.1899+2T>G SNV
Unknown		 ChrX:22221745 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412573932 rs_1602405375

1 SubmittersRCV000990541
NM_000444.6(PHEX):c.2078G>C (p.Cys693Ser) SNV
Germline		 ChrX:22245340 Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412575178 rs_1556200989

2 SubmittersRCV000990544RCV001858726
NM_000444.6(PHEX):c.2133T>G (p.Ser711Arg) SNV
Unknown		 ChrX:22245395 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412575301 rs_1602439611

1 SubmittersRCV000990546
NM_000444.6(PHEX):c.2147+2T>G SNV
Unknown		 ChrX:22245411 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412575336 rs_1602439662

1 SubmittersRCV000990547
NM_000444.6(PHEX):c.2198G>T (p.Cys733Phe) SNV
Germline		 ChrX:22247901 Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412575462 rs_1057517981

3 SubmittersRCV000990548RCV001205648
NM_000444.6(PHEX):c.2236T>C (p.Cys746Arg) SNV
Germline		 ChrX:22247939 Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412575548 rs_1602442819

2 SubmittersRCV000990549RCV003679024
NM_000444.6(PHEX):c.2249A>G (p.Ter750Trp) SNV
Unknown		 ChrX:22247952 Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412575577 rs_1602442871

1 SubmittersRCV000990550
NM_000444.6(PHEX):c.1768+5G>A SNV
Germline		 ChrX:22219108 Conflicting classifications of pathogenicity Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Conflicting Classifications
 CA915950783 rs_1057524608

3 SubmittersRCV000992531RCV002281581
NM_000444.6(PHEX):c.176G>C (p.Cys59Ser) SNV
Germline		 ChrX:22038526 Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets No Assertion Criteria Provided
 CA412565973 rs_1602244810

1 SubmittersRCV001029876
NM_000444.6(PHEX):c.1529G>C (p.Arg510Pro) SNV
Germline		 ChrX:22178319 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Single Submitter
 CA412574878 rs_915608304

2 SubmittersRCV001030004RCV003558647
NM_000444.6(PHEX):c.1768+173A>G SNV
Germline		 ChrX:22219276 Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Conflicting Classifications
 CA915950784 rs_1602402549

3 SubmittersRCV001029835
NM_000444.6(PHEX):c.653A>G (p.His218Arg) SNV
Germline		 ChrX:22077692 Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets
PHEX-related disorder
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10368072 rs_774907553

5 SubmittersRCV001166519RCV003945890RCV006465521RCV005453186
NM_000444.6(PHEX):c.690C>T (p.Ala230=) SNV
Germline		 ChrX:22090455 Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10368087 rs_149487757

2 SubmittersRCV001166520RCV002559596
NM_000444.6(PHEX):c.2068C>A (p.His690Asn) SNV
Germline		 ChrX:22227609 Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10368426 rs_200733697

3 SubmittersRCV001168749RCV002558673RCV002557455
NM_000444.6(PHEX):c.2213C>T (p.Thr738Met) SNV
Germline		 ChrX:22247916 Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided
not specified
PHEX-related disorder		 Criteria Provided
Conflicting Classifications
 CA10368468 rs_371825581

5 SubmittersRCV001168750RCV002557456RCV004690001RCV004753224
NM_000444.6(PHEX):c.663G>A (p.Lys221=) SNV
Germline		 ChrX:22077702 Pathogenic/Likely pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA515429851 rs_1929220357

2 SubmittersRCV001215333RCV002249806
NM_000444.6(PHEX):c.1104G>A (p.Trp368Ter) SNV
Germline		 ChrX:22111491 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Single Submitter
 CA412573125 rs_1930963615

2 SubmittersRCV001220284RCV004761994
NM_000444.6(PHEX):c.1958C>A (p.Ala653Asp) SNV
Germline		 ChrX:22226501 Pathogenic/Likely pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412574249 rs_1935508775

2 SubmittersRCV001222246RCV005866871
NM_000444.6(PHEX):c.118+1G>A SNV
Germline		 ChrX:22033124 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412564384 rs_1131691731

2 SubmittersRCV001217335RCV003479295
NM_000444.6(PHEX):c.649G>T (p.Glu217Ter) SNV
Germline		 ChrX:22077688 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412571682 rs_1929219058

2 SubmittersRCV003326144RCV001234648
NM_000444.6(PHEX):c.188-1G>C SNV
Germline		 ChrX:22047049 Pathogenic/Likely pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412567476 rs_1927567325

3 SubmittersRCV001235599RCV002246226
NM_000444.6(PHEX):c.436+2T>A SNV
Germline		 ChrX:22076476 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412571216 rs_1929158021

2 SubmittersRCV005236706RCV001230688
NM_000444.6(PHEX):c.436+5G>A SNV
Germline		 ChrX:22076479 Conflicting classifications of pathogenicity Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Conflicting Classifications
 CA1139667282 rs_1602273945

2 SubmittersRCV001226195RCV004720298
NM_000444.6(PHEX):c.934-2A>G SNV
Germline		 ChrX:22099004 Pathogenic/Likely pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412572726 rs_1930291143

3 SubmittersRCV001235084RCV001810001
NM_000444.6(PHEX):c.1482+3A>C SNV
Germline		 ChrX:22168392 Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1139667299 rs_1933409121

2 SubmittersRCV005236712RCV001238609
NM_000444.6(PHEX):c.1966-1G>T SNV
Germline		 ChrX:22227506 Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Multiple Submitters
No Conflicts
 CA412574279 rs_1064795147

2 SubmittersRCV001331239
NM_000444.6(PHEX):c.1933G>A (p.Ala645Thr) SNV
Germline		 ChrX:22226476 Likely pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412574196 rs_2147183142

2 SubmittersRCV001370177RCV005429195
NM_000444.6(PHEX):c.824T>C (p.Leu275Pro) SNV
Germline		 ChrX:22094074 Pathogenic/Likely pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412572459 rs_2147040261

2 SubmittersRCV001378985RCV003235569
NM_000444.6(PHEX):c.1079+2T>G SNV
Germline		 ChrX:22099153 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412573063 rs_2147047585

2 SubmittersRCV001381239RCV005237771
NM_000444.6(PHEX):c.1173+1G>A SNV
Germline		 ChrX:22111561 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412573286 rs_1064793227

2 SubmittersRCV001389006RCV002246374
NM_000444.6(PHEX):c.1174-1G>A SNV
Germline		 ChrX:22114457 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412573292 rs_2147065556

2 SubmittersRCV001389007RCV002246375
NM_000444.6(PHEX):c.1309G>T (p.Glu437Ter) SNV
Germline		 ChrX:22133529 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412574543 rs_1341755128

2 SubmittersRCV001387629RCV002246373
NM_000444.6(PHEX):c.1769-1G>C SNV
Germline		 ChrX:22221612 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412573413 rs_1602405079

3 SubmittersRCV001568175RCV002246431
NM_000444.6(PHEX):c.433G>T (p.Glu145Ter) SNV
Germline		 ChrX:22076471 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Single Submitter
 CA412571205 rs_2147019297

2 SubmittersRCV001580138RCV005094820
NM_000444.6(PHEX):c.2071-1G>C SNV
Germline		 ChrX:22245332 Pathogenic Hypophosphatemic rickets
Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412575160 rs_886041374

3 SubmittersRCV001843331RCV001869827RCV002246537
NM_000444.6(PHEX):c.1970A>G (p.Tyr657Cys) SNV
Germline		 ChrX:22227511 Pathogenic/Likely pathogenic Hypophosphatemic rickets
Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412574290 rs_2147184570

3 SubmittersRCV001843692RCV001869857RCV005253896
NM_000444.6(PHEX):c.2188G>T (p.Ala730Ser) SNV
Germline		 ChrX:22247891 Conflicting classifications of pathogenicity Hypophosphatemic rickets
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Conflicting Classifications
 CA10368466 rs_752729907

2 SubmittersRCV001843696RCV005361752
NM_000444.6(PHEX):c.931C>T (p.Gln311Ter) SNV
Germline		 ChrX:22097036 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412572711 rs_1321395083

2 SubmittersRCV001884405RCV004796677
NM_000444.6(PHEX):c.1646-2A>G SNV
Germline		 ChrX:22212902 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412575584 rs_2147164011

2 SubmittersRCV001942332RCV002246619
NM_000444.6(PHEX):c.1700+5G>A SNV
Germline		 ChrX:22212963 Pathogenic/Likely pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2573158762 rs_2147164144

2 SubmittersRCV002026081RCV004785457
NM_000444.6(PHEX):c.2071-2A>C SNV
Germline		 ChrX:22245331 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412575159 rs_1936359447

2 SubmittersRCV001982901RCV005238117
NM_000444.6(PHEX):c.1046A>G (p.Asp349Gly) SNV
Germline		 ChrX:22099118 Pathogenic/Likely pathogenic PHEX-related disorder
Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412572980 rs_2147047501

3 SubmittersRCV004731224RCV002026635RCV002246658
NM_000444.6(PHEX):c.732+1G>T SNV
Germline		 ChrX:22090498 Pathogenic/Likely pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412572175 rs_2147035585

2 SubmittersRCV001886471RCV005238031
NM_000444.6(PHEX):c.849+1G>T SNV
Germline		 ChrX:22094100 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412572516 rs_1057521144

2 SubmittersRCV001909591RCV005238059
NM_000444.6(PHEX):c.1080-3C>G SNV
Germline		 ChrX:22111464 Pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2573158523 rs_1930961231

2 SubmittersRCV001914236RCV005406199
NM_000444.6(PHEX):c.1141C>T (p.Arg381Cys) SNV
Germline		 ChrX:22111528 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Conflicting Classifications
 CA327523393 rs_932260939

3 SubmittersRCV002182336RCV003161363RCV005042712
NM_000444.6(PHEX):c.350-1G>A SNV
Germline		 ChrX:22076387 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets No Assertion Criteria Provided
 CA412571016 rs_2147019098

1 SubmittersRCV002221709
NM_000444.6(PHEX):c.1376C>A (p.Ala459Glu) SNV
Germline		 ChrX:22133596 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412574705 rs_2147086514

1 SubmittersRCV002227912
NM_000444.6(PHEX):c.187+1G>C SNV
Germline		 ChrX:22038538 Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412566070 rs_1556012100

1 SubmittersRCV002249123
NM_000444.6(PHEX):c.3G>A (p.Met1Ile) SNV
Germline		 ChrX:22033008 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412563652 rs_1926865530

1 SubmittersRCV002250188
NM_000444.6(PHEX):c.200T>A (p.Leu67Ter) SNV
Germline		 ChrX:22047062 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412567512 rs_2146987638

1 SubmittersRCV002250190
NM_000444.6(PHEX):c.254G>T (p.Cys85Phe) SNV
Germline		 ChrX:22047116 Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412567633 rs_137853269

3 SubmittersRCV002250191RCV003560887
NM_000444.6(PHEX):c.305G>T (p.Gly102Val) SNV
Germline		 ChrX:22047167 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412567754 rs_2146987874

2 SubmittersRCV002250192RCV003574894
NM_000444.6(PHEX):c.421T>C (p.Ser141Pro) SNV
Germline		 ChrX:22076459 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412571176 rs_2147019252

1 SubmittersRCV002250193
NM_000444.6(PHEX):c.436+4A>T SNV
Germline		 ChrX:22076478 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA2573158517 rs_1057520344

1 SubmittersRCV002250194
NM_000444.6(PHEX):c.460A>T (p.Lys154Ter) SNV
Germline		 ChrX:22077499 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412571277 rs_1929202828

1 SubmittersRCV002250195
NM_000444.6(PHEX):c.664-1G>T SNV
Germline		 ChrX:22090428 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412571990 rs_886041529

1 SubmittersRCV002250198
NM_000444.6(PHEX):c.705C>A (p.Tyr235Ter) SNV
Germline		 ChrX:22090470 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412572078 rs_2147035526

1 SubmittersRCV002250201
NM_000444.6(PHEX):c.933+2T>A SNV
Germline		 ChrX:22097040 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412572722 rs_2147043777

2 SubmittersRCV002250203RCV005095827
NM_000444.6(PHEX):c.1042A>T (p.Lys348Ter) SNV
Germline		 ChrX:22099114 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412572970 rs_773436322

1 SubmittersRCV002250204
NM_000444.6(PHEX):c.1302+2T>A SNV
Germline		 ChrX:22114588 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412573827 rs_2147065825

1 SubmittersRCV002250206
NM_000444.6(PHEX):c.1331G>A (p.Trp444Ter) SNV
Germline		 ChrX:22133551 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412574590 rs_2147086395

1 SubmittersRCV002250207
NM_000444.6(PHEX):c.1404+1G>C SNV
Germline		 ChrX:22133625 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412574808 rs_2147086611

1 SubmittersRCV002250208
NM_000444.6(PHEX):c.1586+2T>G SNV
Germline		 ChrX:22178378 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412575011 rs_1057518377

1 SubmittersRCV002250211
NM_000444.6(PHEX):c.1646-2A>C SNV
Germline		 ChrX:22212902 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412575583 rs_2147164011

1 SubmittersRCV002250212
NM_000444.6(PHEX):c.1769-1G>A SNV
Germline		 ChrX:22221612 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412573411 rs_1602405079

1 SubmittersRCV002250215
NM_000444.6(PHEX):c.1779T>A (p.Tyr593Ter) SNV
Germline		 ChrX:22221623 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412573461 rs_1935269189

2 SubmittersRCV002250216RCV003094034
NM_000444.6(PHEX):c.1840A>T (p.Lys614Ter) SNV
Germline		 ChrX:22221684 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412573731 rs_2147174526

1 SubmittersRCV002250217
NM_000444.6(PHEX):c.2132G>T (p.Ser711Ile) SNV
Germline		 ChrX:22245394 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412575299 rs_2147214114

1 SubmittersRCV002250221
NM_000444.6(PHEX):c.1861C>T (p.Gln621Ter) SNV
Germline		 ChrX:22221705 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412573831 rs_2518664568

2 SubmittersRCV002283599RCV005096034
NM_000444.6(PHEX):c.1217G>T (p.Cys406Phe) SNV
Germline		 ChrX:22114501 Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412573391 rs_1602307107

1 SubmittersRCV002283903
NM_000444.6(PHEX):c.1303-2A>G SNV
Germline		 ChrX:22133521 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412574520 rs_2518547982

2 SubmittersRCV002468763RCV003720644
NM_000444.6(PHEX):c.842T>G (p.Ile281Arg) SNV
Germline		 ChrX:22094092 Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412572499 rs_2519772389

1 SubmittersRCV002470346
NM_000444.6(PHEX):c.250G>C (p.Ala84Pro) SNV
Germline		 ChrX:22047112 Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412567624 rs_767642869

2 SubmittersRCV003108250RCV003575034
NM_000444.6(PHEX):c.1946G>A (p.Gly649Asp) SNV
Germline		 ChrX:22226489 Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Conflicting Classifications
 CA412574227 rs_2518674832

2 SubmittersRCV003134816
NM_000444.6(PHEX):c.1701A>C (p.Arg567=) SNV
Germline		 ChrX:22219036 Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA515431994 rs_2518659982

2 SubmittersRCV003236696
NM_000444.6(PHEX):c.1808G>A (p.Trp603Ter) SNV
Germline		 ChrX:22221652 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412573591 rs_1398473794

1 SubmittersRCV003388314
NM_000444.6(PHEX):c.2156G>C (p.Gly719Ala) SNV
Unknown		 ChrX:22247859 Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412575362 rs_2518713623

1 SubmittersRCV003448534
NM_000444.6(PHEX):c.188-2A>C SNV
Germline		 ChrX:22047048 Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412567470 rs_2519722144

1 SubmittersRCV004545895
NM_000444.6(PHEX):c.1536T>G (p.Tyr512Ter) SNV
Germline		 ChrX:22178326 Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412574893 rs_2147128208

1 SubmittersRCV004545896
NM_000444.6(PHEX):c.1318G>T (p.Glu440Ter) SNV
Germline		 ChrX:22133538 Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412574563 rs_921572266

1 SubmittersRCV004545902
NM_000444.6(PHEX):c.264G>A (p.Trp88Ter) SNV
Germline		 ChrX:22047126 Pathogenic/Likely pathogenic Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412567655 rs_2146987783

2 SubmittersRCV003719079RCV005047757
NM_000444.6(PHEX):c.1516G>A (p.Val506Ile) SNV
Germline		 ChrX:22178306 Conflicting classifications of pathogenicity Condition: not provided
Familial X-linked hypophosphatemic vitamin D refractory rickets		 Criteria Provided
Conflicting Classifications
 CA10368283 rs_781248973

2 SubmittersRCV003840245RCV005040552
NM_000444.6(PHEX):c.2150T>G (p.Val717Gly) SNV
Germline		 ChrX:22247853 Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter
 CA412575351 rs_2518713587

1 SubmittersRCV003882746
NM_000444.6(PHEX):c.2070+601C>T SNV
Germline		 ChrX:22228212 Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter

1 SubmittersRCV004759688
NM_000444.6(PHEX):c.419C>A (p.Ser140Ter) SNV
Germline		 ChrX:22076457 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter

1 SubmittersRCV004797151
NM_000444.6(PHEX):c.1525A>C (p.Thr509Pro) SNV
Germline		 ChrX:22178315 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter

1 SubmittersRCV005438370
NM_000444.6(PHEX):c.1587-2A>C SNV
Germline		 ChrX:22190442 Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter

1 SubmittersRCV005041743
NM_000444.6(PHEX):c.1313T>A (p.Leu438Ter) SNV
Germline		 ChrX:22133533 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter

1 SubmittersRCV005254198
NM_000444.6(PHEX):c.2147+1197A>G SNV
Germline		 ChrX:22246606 Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter

1 SubmittersRCV005255533
NM_000444.6(PHEX):c.1351G>T (p.Glu451Ter) SNV
Germline		 ChrX:22133571 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter

1 SubmittersRCV005881064
NM_000444.6(PHEX):c.425G>A (p.Cys142Tyr) SNV
Germline		 ChrX:22076463 Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter

1 SubmittersRCV006443047
NM_000444.6(PHEX):c.1173+5G>C SNV
Germline		 ChrX:22111565 Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006453934RCV006480411
NM_000444.6(PHEX):c.1080-687A>G SNV
Germline		 ChrX:22110780 Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets Criteria Provided
Single Submitter

1 SubmittersRCV006597634