| - GRCh37:
- Chr6:132211616
- GRCh38:
- Chr6:131890476
| ENPP1 | T916fs | Arterial calcification, generalized, of infancy, 1 | Likely pathogenic
(Feb 12, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132211536
- GRCh38:
- Chr6:131890396
| ENPP1 | I889fs | Arterial calcification, generalized, of infancy, 1 | Pathogenic
(Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132204903
- GRCh38:
- Chr6:131883763
| ENPP1 | Q767fs | Arterial calcification, generalized, of infancy, 1 | Pathogenic
(Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132203572
- GRCh38:
- Chr6:131882432
| ENPP1 | N731fs | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2 | Pathogenic
(Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132129383
- GRCh38:
- Chr6:131808243
| ENPP1 | K70* | Arterial calcification, generalized, of infancy, 1 | Pathogenic
(Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132189268
- GRCh38:
- Chr6:131868128
| ENPP1 | | Arterial calcification, generalized, of infancy, 1 | Pathogenic
(Mar 16, 2022) | criteria provided, single submitter |
| - GRCh38:
- Chr6:131688637-132215008
| CCN2, CTAGE9, ENPP1, ENPP3, LINC01013, LOC111365199, LOC123864069, LOC123864070, LOC126859789, LOC126859790, MIR548AJ1, MIR548H5, OR2A4 | | Arterial calcification, generalized, of infancy, 1 | Pathogenic
(Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132186020
- GRCh38:
- Chr6:131864880
| ENPP1 | T369I | Arterial calcification, generalized, of infancy, 1 | Uncertain significance
(Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132176113
- GRCh38:
- Chr6:131854973
| ENPP1 | A222E | Arterial calcification, generalized, of infancy, 1 | Uncertain significance
(Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132129195-132129196
- GRCh38:
- Chr6:131808055-131808056
| ENPP1 | G10fs | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2 | Pathogenic
(Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132203614
- GRCh38:
- Chr6:131882474
| ENPP1 | Q744* | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1
| Pathogenic
(Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132185585-132185634
- GRCh38:
- Chr6:131864445-131864494
| ENPP1 | | Arterial calcification, generalized, of infancy, 1 | Uncertain significance
(Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132129365-132129366
- GRCh38:
- Chr6:131808225-131808226
| ENPP1 | A66fs | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1
| Pathogenic
(Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132186007
- GRCh38:
- Chr6:131864867
| ENPP1 | P365fs | Arterial calcification, generalized, of infancy, 1 | Pathogenic
(Mar 16, 2022) | criteria provided, single submitter |
| | ENPP1 | | Arterial calcification, generalized, of infancy, 1 | Pathogenic
(Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132181527
- GRCh38:
- Chr6:131860387
| ENPP1 | G266R | Arterial calcification, generalized, of infancy, 1 | Likely pathogenic
(Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132173332
- GRCh38:
- Chr6:131852192
| ENPP1 | E192fs | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2 | Pathogenic
(Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132173328
- GRCh38:
- Chr6:131852188
| ENPP1 | W190C | Arterial calcification, generalized, of infancy, 1 | Uncertain significance
(Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132172362
- GRCh38:
- Chr6:131851222
| ENPP1 | K171* | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2 | Pathogenic
(Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132211614
- GRCh38:
- Chr6:131890474
| ENPP1 | L914* | Arterial calcification, generalized, of infancy, 1 | Pathogenic
(Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132181647
- GRCh38:
- Chr6:131860507
| ENPP1 | | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2 | Pathogenic
(Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132179899
- GRCh38:
- Chr6:131858759
| ENPP1 | | Arterial calcification, generalized, of infancy, 1, Hypopigmentation-punctate palmoplantar keratoderma syndrome, Obesity,
Type II diabetes mellitus, Hypophosphatemic rickets, autosomal recessive, 2, not provided
| Likely benign
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:132168996-132168997
- GRCh38:
- Chr6:131847856-131847857
| ENPP1 | | Arterial calcification, generalized, of infancy, 1, Hypopigmentation-punctate palmoplantar keratoderma syndrome, Obesity,
Type II diabetes mellitus, Hypophosphatemic rickets, autosomal recessive, 2, not provided
| Likely benign
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:132204922
- GRCh38:
- Chr6:131883782
| ENPP1 | | not provided, Hypopigmentation-punctate palmoplantar keratoderma syndrome, Arterial calcification, generalized, of infancy, 1,
Hypophosphatemic rickets, autosomal recessive, 2, Obesity, Type II diabetes mellitus
| Likely benign
(Mar 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:132204855
- GRCh38:
- Chr6:131883715
| ENPP1 | G751E | Hypopigmentation-punctate palmoplantar keratoderma syndrome, Obesity, Type II diabetes mellitus,
Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2, not provided
| Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:132173353
- GRCh38:
- Chr6:131852213
| ENPP1 | N199D | not provided, Hypopigmentation-punctate palmoplantar keratoderma syndrome, Obesity,
Type II diabetes mellitus, Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2
| Uncertain significance
(Nov 4, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:132190576
- GRCh38:
- Chr6:131869436
| ENPP1 | Y451C | Hypopigmentation-punctate palmoplantar keratoderma syndrome, Obesity, Type II diabetes mellitus,
Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2, not provided
| Conflicting interpretations of pathogenicity
(Jul 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:132206103
- GRCh38:
- Chr6:131884963
| ENPP1 | R782* | Arterial calcification, generalized, of infancy, 1, Type II diabetes mellitus, Hypopigmentation-punctate palmoplantar keratoderma syndrome,
Hypophosphatemic rickets, autosomal recessive, 2, Obesity | Pathogenic
(Jun 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132168995-132168996
- GRCh38:
- Chr6:131847855-131847856
| ENPP1 | | Arterial calcification, generalized, of infancy, 1, Type II diabetes mellitus, Hypopigmentation-punctate palmoplantar keratoderma syndrome,
Hypophosphatemic rickets, autosomal recessive, 2, Obesity, not provided
| Benign/Likely benign
(Jul 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:132207697
- GRCh38:
- Chr6:131886557
| ENPP1 | | not provided, Hypopigmentation-punctate palmoplantar keratoderma syndrome, Hypophosphatemic rickets, autosomal recessive, 2,
Obesity, Arterial calcification, generalized, of infancy, 1, Type II diabetes mellitus
| Likely benign
(Jan 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:132172335
- GRCh38:
- Chr6:131851195
| ENPP1 | S162G | Arterial calcification, generalized, of infancy, 1 | Uncertain significance
(May 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132172407
- GRCh38:
- Chr6:131851267
| ENPP1 | | Arterial calcification, generalized, of infancy, 1 | Pathogenic
(Jun 14, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr6:132196979
- GRCh38:
- Chr6:131875839
| ENPP1 | I567V | not provided, Hypopigmentation-punctate palmoplantar keratoderma syndrome, Obesity,
Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1, Type II diabetes mellitus
| Uncertain significance
(Apr 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:132176074
- GRCh38:
- Chr6:131854934
| ENPP1 | T209M | Hypopigmentation-punctate palmoplantar keratoderma syndrome, Obesity, Hypophosphatemic rickets, autosomal recessive, 2,
Arterial calcification, generalized, of infancy, 1, Type II diabetes mellitus, not provided
| Uncertain significance
(Sep 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:132168999-132169003
- GRCh38:
- Chr6:131847859-131847863
| ENPP1 | | Hypophosphatemic rickets, autosomal recessive, 2, Hypopigmentation-punctate palmoplantar keratoderma syndrome, Hypophosphatemic rickets, autosomal recessive, 2,
Obesity, Type II diabetes mellitus, Arterial calcification, generalized, of infancy, 1
| Benign
(Aug 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:132216158
- GRCh38:
- Chr6:131895018
| ENPP1 | | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132215530
- GRCh38:
- Chr6:131894390
| ENPP1 | | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2 | Benign
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132212958
- GRCh38:
- Chr6:131891818
| ENPP1 | | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2 | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132212228
- GRCh38:
- Chr6:131891088
| ENPP1 | | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132211771
- GRCh38:
- Chr6:131890631
| ENPP1 | | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132211754
- GRCh38:
- Chr6:131890614
| ENPP1 | | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132203575
- GRCh38:
- Chr6:131882435
| ENPP1 | N731Y | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132168999
- GRCh38:
- Chr6:131847859
| ENPP1 | | Arterial calcification, generalized, of infancy, 1, not provided, Hypophosphatemic rickets, autosomal recessive, 2
| Conflicting interpretations of pathogenicity
(Jan 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:132216122
- GRCh38:
- Chr6:131894982
| ENPP1 | | Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132216020
- GRCh38:
- Chr6:131894880
| ENPP1 | | Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1 | Uncertain significance
(Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132215983
- GRCh38:
- Chr6:131894843
| ENPP1 | | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132215369
- GRCh38:
- Chr6:131894229
| ENPP1 | | Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132214617
- GRCh38:
- Chr6:131893477
| ENPP1 | | Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132213591
- GRCh38:
- Chr6:131892451
| ENPP1 | | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132213515
- GRCh38:
- Chr6:131892375
| ENPP1 | | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132213509
- GRCh38:
- Chr6:131892369
| ENPP1 | | Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132212890
- GRCh38:
- Chr6:131891750
| ENPP1 | | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132212553
- GRCh38:
- Chr6:131891413
| ENPP1 | | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132212167
- GRCh38:
- Chr6:131891027
| ENPP1 | | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132212128
- GRCh38:
- Chr6:131890988
| ENPP1 | | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132176133
- GRCh38:
- Chr6:131854993
| ENPP1 | G229S | Arterial calcification, generalized, of infancy, 1, Hypopigmentation-punctate palmoplantar keratoderma syndrome, Obesity,
Hypophosphatemic rickets, autosomal recessive, 2, Type II diabetes mellitus, Arterial calcification, generalized, of infancy, 1,
Hypophosphatemic rickets, autosomal recessive, 2, not provided | Uncertain significance
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:132129389
- GRCh38:
- Chr6:131808249
| ENPP1 | P72S | Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132129332
- GRCh38:
- Chr6:131808192
| ENPP1 | M53V | Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132201072
- GRCh38:
- Chr6:131879932
| ENPP1 | | Arterial calcification, generalized, of infancy, 1, not provided, Hypophosphatemic rickets, autosomal recessive, 2
| Conflicting interpretations of pathogenicity
(Sep 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:132173372
- GRCh38:
- Chr6:131852232
| ENPP1 | A205E | Arterial calcification, generalized, of infancy, 1, Hypopigmentation-punctate palmoplantar keratoderma syndrome, Obesity,
Hypophosphatemic rickets, autosomal recessive, 2, Type II diabetes mellitus, Hypophosphatemic rickets, autosomal recessive, 2,
Arterial calcification, generalized, of infancy, 1, not provided, Inborn genetic diseases
| Uncertain significance
(Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:132173359
- GRCh38:
- Chr6:131852219
| ENPP1 | P201S | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132172387
- GRCh38:
- Chr6:131851247
| ENPP1 | N179S | not provided, Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2
| Uncertain significance
(Dec 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:132129185
- GRCh38:
- Chr6:131808045
| ENPP1 | D4N | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132215938
- GRCh38:
- Chr6:131894798
| ENPP1 | | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132215715
- GRCh38:
- Chr6:131894575
| ENPP1 | | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2 | Benign
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132215698
- GRCh38:
- Chr6:131894558
| ENPP1 | | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132215253
- GRCh38:
- Chr6:131894113
| ENPP1 | | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132215251
- GRCh38:
- Chr6:131894111
| ENPP1 | | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132214215
- GRCh38:
- Chr6:131893075
| ENPP1 | | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132214194
- GRCh38:
- Chr6:131893054
| ENPP1 | | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132213367
- GRCh38:
- Chr6:131892227
| ENPP1 | | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2 | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132213269
- GRCh38:
- Chr6:131892129
| ENPP1 | | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132212875
- GRCh38:
- Chr6:131891735
| ENPP1 | | Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1 | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132212499
- GRCh38:
- Chr6:131891359
| ENPP1 | | Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132212455
- GRCh38:
- Chr6:131891315
| ENPP1 | | Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1 | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132212051
- GRCh38:
- Chr6:131890911
| ENPP1 | | Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132212043
- GRCh38:
- Chr6:131890903
| ENPP1 | | Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132206213
- GRCh38:
- Chr6:131885073
| ENPP1 | | not provided, Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1
| Conflicting interpretations of pathogenicity
(Sep 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:132216271
- GRCh38:
- Chr6:131895131
| ENPP1 | | Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132215665
- GRCh38:
- Chr6:131894525
| ENPP1 | | Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132215571
- GRCh38:
- Chr6:131894431
| ENPP1 | | Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132215570
- GRCh38:
- Chr6:131894430
| ENPP1 | | Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132215536
- GRCh38:
- Chr6:131894396
| ENPP1 | | Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132213724
- GRCh38:
- Chr6:131892584
| ENPP1 | | Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132213176
- GRCh38:
- Chr6:131892036
| ENPP1 | | Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132212776
- GRCh38:
- Chr6:131891636
| ENPP1 | | Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132212756
- GRCh38:
- Chr6:131891616
| ENPP1 | | Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132212322
- GRCh38:
- Chr6:131891182
| ENPP1 | | Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1 | Uncertain significance
(Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132212308
- GRCh38:
- Chr6:131891168
| ENPP1 | | Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132211801
- GRCh38:
- Chr6:131890661
| ENPP1 | | Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1 | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132211779
- GRCh38:
- Chr6:131890639
| ENPP1 | | Arterial calcification, generalized, of infancy, 1, Hypopigmentation-punctate palmoplantar keratoderma syndrome, Obesity,
Hypophosphatemic rickets, autosomal recessive, 2, Type II diabetes mellitus, Arterial calcification, generalized, of infancy, 1,
Hypophosphatemic rickets, autosomal recessive, 2 | Uncertain significance
(Dec 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:132206174
- GRCh38:
- Chr6:131885034
| ENPP1 | | not provided, Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1
| Conflicting interpretations of pathogenicity
(Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:132206139
- GRCh38:
- Chr6:131884999
| ENPP1 | V794I | Arterial calcification, generalized, of infancy, 1, Hypopigmentation-punctate palmoplantar keratoderma syndrome, Obesity,
Hypophosphatemic rickets, autosomal recessive, 2, Type II diabetes mellitus, Arterial calcification, generalized, of infancy, 1,
Hypophosphatemic rickets, autosomal recessive, 2, Inborn genetic diseases, not provided
| Uncertain significance
(Mar 31, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:132198127
- GRCh38:
- Chr6:131876987
| ENPP1 | | Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132172294
- GRCh38:
- Chr6:131851154
| ENPP1 | T148S | Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:132169003
- GRCh38:
- Chr6:131847863
| ENPP1 | | not provided, Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1
| Conflicting interpretations of pathogenicity
(Jul 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:132169001
- GRCh38:
- Chr6:131847861
| ENPP1 | | not provided, Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1
| Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:132206135
- GRCh38:
- Chr6:131884995
| ENPP1 | N792K | not provided, Arterial calcification, generalized, of infancy, 1 | Conflicting interpretations of pathogenicity
(Jun 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:132198177
- GRCh38:
- Chr6:131877037
| ENPP1 | S590N | not provided, Arterial calcification, generalized, of infancy, 1 | Conflicting interpretations of pathogenicity
(Sep 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:132193242-132193245
- GRCh38:
- Chr6:131872102-131872105
| ENPP1 | | Arterial calcification, generalized, of infancy, 1, Type II diabetes mellitus, Obesity,
Hypophosphatemic rickets, autosomal recessive, 2, Hypopigmentation-punctate palmoplantar keratoderma syndrome, not provided
| Uncertain significance
(Dec 20, 2021) | criteria provided, multiple submitters, no conflicts |