Gene Symbol:
SLC34A1
HGNC:11019
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
5q35.3
Filters:

Definitive classifications

hypercalcemia, infantile, 2
AR
10/19/2022
Evaluated
04/21/2024
Submitted

Strong classifications

hypercalcemia, infantile, 2
Submitted as: OMIM:616963
AR
12/19/2022
Evaluated
11/30/2023
Submitted

Moderate classifications

hypercalcemia, infantile, 2
Submitted as: OMIM:616963
AR
09/29/2022
Evaluated
08/19/2023
Submitted

Supportive classifications

primary Fanconi syndrome
Submitted as: Orphanet:3337
AD
09/14/2021
Evaluated
09/14/2021
Submitted
dominant hypophosphatemia with nephrolithiasis or osteoporosis
Submitted as: Orphanet:244305
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal recessive infantile hypercalcemia
Submitted as: Orphanet:300547
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

Fanconi renotubular syndrome 2
Submitted as: OMIM:613388
AR
04/09/2020
Evaluated
11/30/2023
Submitted
hypophosphatemic nephrolithiasis/osteoporosis 1
Submitted as: OMIM:612286
AD
01/06/2023
Evaluated
08/19/2023
Submitted
hypophosphatemic nephrolithiasis/osteoporosis 1
Submitted as: OMIM:612286
AD
04/23/2020
Evaluated
11/30/2023
Submitted

Disputed Evidence classifications

Fanconi renotubular syndrome 2
AR
09/06/2022
Evaluated
04/21/2024
Submitted

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