| - GRCh37:
- Chr6:74348221
- GRCh38:
- Chr6:73638498
| SLC17A5 | G176V, G183V, G99V | Sialic acid storage disease, severe infantile type | Likely pathogenic
(Feb 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74331648
- GRCh38:
- Chr6:73621925
| SLC17A5 | L180*, L209*, L257*, L285*, L286*, L293* | Sialic acid storage disease, severe infantile type, Salla disease | Likely pathogenic
(Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74325113-74325114
- GRCh38:
- Chr6:73615390-73615391
| SLC17A5 | G240fs, G269fs, G293fs, G317fs, G345fs, G346fs, G353fs | Sialic acid storage disease, severe infantile type, Salla disease | Likely pathogenic
(May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74351502-74351503
- GRCh38:
- Chr6:73641779-73641780
| SLC17A5 | | Sialic acid storage disease, severe infantile type, Salla disease | Likely pathogenic
(Apr 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74331589-74331590
- GRCh38:
- Chr6:73621866-73621867
| SLC17A5 | F199fs, F228fs, F276fs, F304fs, F305fs, F312fs | Sialic acid storage disease, severe infantile type, Salla disease | Likely pathogenic
(Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74351617-74351618
- GRCh38:
- Chr6:73641894-73641895
| SLC17A5 | Q108fs, Q115fs, Q31fs | Sialic acid storage disease, severe infantile type, Salla disease | Likely pathogenic
(Dec 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74351549
- GRCh38:
- Chr6:73641826
| SLC17A5 | S131fs, S138fs, S54fs | Sialic acid storage disease, severe infantile type, Salla disease | Likely pathogenic
(Mar 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74346351
- GRCh38:
- Chr6:73636628
| SLC17A5 | Y154*, Y230*, Y231*, Y238* | Sialic acid storage disease, severe infantile type, Salla disease | Likely pathogenic
(Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74325154-74325157
- GRCh38:
- Chr6:73615431-73615434
| SLC17A5 | S225fs, S254fs, S278fs, S302fs, S330fs, S331fs, S338fs | Sialic acid storage disease, severe infantile type, Salla disease | Likely pathogenic
(Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74351453-74351454
- GRCh38:
- Chr6:73641730-73641731
| SLC17A5 | P163fs, P170fs, P86fs | Sialic acid storage disease, severe infantile type, Salla disease | Likely pathogenic
(Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74325053
- GRCh38:
- Chr6:73615330
| SLC17A5 | | Sialic acid storage disease, severe infantile type, Salla disease | Likely pathogenic
(Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74325101
- GRCh38:
- Chr6:73615378
| SLC17A5 | D244fs, D273fs, D297fs, D321fs, D349fs, D350fs, D357fs | Sialic acid storage disease, severe infantile type, Salla disease | Likely pathogenic
(Mar 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74351479-74351481
- GRCh38:
- Chr6:73641756-73641758
| SLC17A5 | T153fs, T160fs, T76fs | Sialic acid storage disease, severe infantile type, Salla disease | Likely pathogenic
(Jan 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74331602
- GRCh38:
- Chr6:73621879
| SLC17A5 | Y195*, Y224*, Y272*, Y300*, Y301*, Y308* | Sialic acid storage disease, severe infantile type, Salla disease | Likely pathogenic
(Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74325038
- GRCh38:
- Chr6:73615315
| SLC17A5 | G265R, G294R, G318R, G342R, G370R, G371R, G378R | Sialic acid storage disease, severe infantile type | Likely pathogenic
(Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74348174
- GRCh38:
- Chr6:73638451
| SLC17A5 | P115S, P192S, P199S | Salla disease, Sialic acid storage disease, severe infantile type | Uncertain significance
(Mar 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74320234
- GRCh38:
- Chr6:73610511
| SLC17A5 | G306A, G354A, G277A, G330A, G383A, G382A, G390A | Salla disease, Sialic acid storage disease, severe infantile type, Salla disease
| Uncertain significance
(Aug 10, 2022) | criteria provided, multiple submitters, no conflicts |
| | SLC17A5 | | Sialic acid storage disease, severe infantile type | Pathogenic
(Sep 14, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr6:74325037
- GRCh38:
- Chr6:73615314
| SLC17A5 | | Salla disease | Likely pathogenic
(Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74345177-74345180
- GRCh38:
- Chr6:73635454-73635457
| SLC17A5 | S143fs, S172fs, S220fs, S248fs, S249fs, S256fs | Sialic acid storage disease, severe infantile type | Pathogenic
(Apr 29, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr6:74345205
- GRCh38:
- Chr6:73635482
| SLC17A5 | W134L, W163L, W211L, W239L, W240L, W247L | Salla disease, Sialic acid storage disease, severe infantile type | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74325203
- GRCh38:
- Chr6:73615480
| SLC17A5 | | not provided, Salla disease, Sialic acid storage disease, severe infantile type
| Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:74320306
- GRCh38:
- Chr6:73610583
| SLC17A5 | | Sialic acid storage disease, severe infantile type, not provided, Salla disease
| Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:74351378
- GRCh38:
- Chr6:73641655
| SLC17A5 | | Sialic acid storage disease, severe infantile type, not provided, Salla disease
| Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:74348328
- GRCh38:
- Chr6:73638605
| SLC17A5 | | Sialic acid storage disease, severe infantile type, not provided, Salla disease
| Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:74345115
- GRCh38:
- Chr6:73635392
| SLC17A5 | L164*, L193*, L241*, L269*, L270*, L277* | Salla disease, Sialic acid storage disease, severe infantile type | Pathogenic
(Feb 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74346425
- GRCh38:
- Chr6:73636702
| SLC17A5 | Q130*, Q206*, Q207*, Q214* | Salla disease, Sialic acid storage disease, severe infantile type | Pathogenic
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:74348175
- GRCh38:
- Chr6:73638452
| SLC17A5 | | Sialic acid storage disease, severe infantile type, Salla disease | Conflicting interpretations of pathogenicity
(Mar 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:74304626
- GRCh38:
- Chr6:73594903
| SLC17A5 | | Sialic acid storage disease, severe infantile type, Salla disease | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74304036
- GRCh38:
- Chr6:73594313
| SLC17A5 | | Sialic acid storage disease, severe infantile type, Salla disease | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74303108
- GRCh38:
- Chr6:73593385
| SLC17A5 | | Salla disease, Sialic acid storage disease, severe infantile type | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74303891
- GRCh38:
- Chr6:73594168
| SLC17A5 | | Salla disease, Sialic acid storage disease, severe infantile type | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74325104
- GRCh38:
- Chr6:73615381
| SLC17A5 | A349T | Salla disease, Sialic acid storage disease, severe infantile type | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74320206
- GRCh38:
- Chr6:73610483
| SLC17A5 | | Salla disease, Sialic acid storage disease, severe infantile type | Conflicting interpretations of pathogenicity
(Aug 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:74304312
- GRCh38:
- Chr6:73594589
| SLC17A5 | | Sialic acid storage disease, severe infantile type, Salla disease | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74304299
- GRCh38:
- Chr6:73594576
| SLC17A5 | | Sialic acid storage disease, severe infantile type, Salla disease | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74304250
- GRCh38:
- Chr6:73594527
| SLC17A5 | | Sialic acid storage disease, severe infantile type, Salla disease | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74303744
- GRCh38:
- Chr6:73594021
| SLC17A5 | | Sialic acid storage disease, severe infantile type, Salla disease | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74303645
- GRCh38:
- Chr6:73593922
| SLC17A5 | | Sialic acid storage disease, severe infantile type, Salla disease | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74303594
- GRCh38:
- Chr6:73593871
| SLC17A5 | | Sialic acid storage disease, severe infantile type, Salla disease | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74363682
- GRCh38:
- Chr6:73653959
| SLC17A5 | | Sialic acid storage disease, severe infantile type, Salla disease | Uncertain significance
(Feb 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74304213
- GRCh38:
- Chr6:73594490
| SLC17A5 | | Sialic acid storage disease, severe infantile type, Salla disease | Uncertain significance
(May 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74304212
- GRCh38:
- Chr6:73594489
| SLC17A5 | | Sialic acid storage disease, severe infantile type, Salla disease | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74345138
- GRCh38:
- Chr6:73635415
| SLC17A5 | E262D | Salla disease | Likely pathogenic
(Dec 5, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74310129
- GRCh38:
- Chr6:73600406
| SLC17A5 | F432S | Sialic acid storage disease, severe infantile type, Salla disease, Salla disease,
Sialic acid storage disease, severe infantile type, Inborn genetic diseases, not provided
| Uncertain significance
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:74363525
- GRCh38:
- Chr6:73653802
| SLC17A5 | A29T | Sialic acid storage disease, severe infantile type, Salla disease, not provided
| Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:74331688
- GRCh38:
- Chr6:73621965
| SLC17A5 | | Salla disease, Sialic acid storage disease, severe infantile type, not provided
| Likely benign
(Dec 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:74320278
- GRCh38:
- Chr6:73610555
| SLC17A5 | | Sialic acid storage disease, severe infantile type, Salla disease, Salla disease
| Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:74331548
- GRCh38:
- Chr6:73621825
| SLC17A5 | | not provided, Salla disease, Sialic acid storage disease, severe infantile type,
Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:74325257
- GRCh38:
- Chr6:73615534
| SLC17A5 | | not provided, Salla disease, Sialic acid storage disease, severe infantile type
| Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:74331439
- GRCh38:
- Chr6:73621716
| SLC17A5 | | Salla disease, Sialic acid storage disease, severe infantile type, not provided
| Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:74331457
- GRCh38:
- Chr6:73621734
| SLC17A5 | | not provided, Salla disease, Sialic acid storage disease, severe infantile type
| Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:74331736
- GRCh38:
- Chr6:73622013
| SLC17A5 | | Salla disease, Sialic acid storage disease, severe infantile type, not provided
| Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:74345026
- GRCh38:
- Chr6:73635303
| SLC17A5 | | not provided, Salla disease, Sialic acid storage disease, severe infantile type
| Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:74345053
- GRCh38:
- Chr6:73635330
| SLC17A5 | | Salla disease, Sialic acid storage disease, severe infantile type, not provided
| Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:74351669
- GRCh38:
- Chr6:73641946
| SLC17A5 | | not provided, Sialic acid storage disease, severe infantile type, Salla disease
| Benign
(Jul 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:74348195
- GRCh38:
- Chr6:73638472
| SLC17A5 | M185V | Sialic acid storage disease, severe infantile type, Salla disease | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:74320205
- GRCh38:
- Chr6:73610482
| SLC17A5 | V393I | not provided, Inborn genetic diseases, Sialic acid storage disease, severe infantile type,
Focal segmental glomerulosclerosis, Salla disease | Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:74304932-74304933
- GRCh38:
- Chr6:73595209-73595210
| SLC17A5 | V453fs | Sialic acid storage disease, severe infantile type, Salla disease | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:74331587
- GRCh38:
- Chr6:73621864
| SLC17A5 | Y306* | Salla disease, Sialic acid storage disease, severe infantile type, not specified,
not provided, Sialic acid storage disease, severe infantile type, Salla disease
| Pathogenic
(Oct 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:74354305
- GRCh38:
- Chr6:73644582
| SLC17A5 | R39H | Salla disease, not provided, Sialic acid storage disease, severe infantile type
| Pathogenic/Likely pathogenic
(Jun 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:74320122
- GRCh38:
- Chr6:73610399
| SLC17A5 | | Salla disease, not provided | Pathogenic/Likely pathogenic
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:74363695
- GRCh38:
- Chr6:73653972
| SLC17A5 | | Salla disease, Sialic acid storage disease, severe infantile type | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74363665
- GRCh38:
- Chr6:73653942
| SLC17A5 | | Sialic acid storage disease, severe infantile type, Salla disease | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74348142
- GRCh38:
- Chr6:73638419
| SLC17A5 | | Salla disease, Sialic acid storage disease, severe infantile type, not provided,
not specified | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:74325031
- GRCh38:
- Chr6:73615308
| SLC17A5 | | not specified, Salla disease, Sialic acid storage disease, severe infantile type,
not provided | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:74320190
- GRCh38:
- Chr6:73610467
| SLC17A5 | I398V | Sialic acid storage disease, severe infantile type, Salla disease | Uncertain significance
(Jul 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:74310152
- GRCh38:
- Chr6:73600429
| SLC17A5 | | Salla disease, Sialic acid storage disease, severe infantile type | Conflicting interpretations of pathogenicity
(Sep 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:74304930
- GRCh38:
- Chr6:73595207
| SLC17A5 | V453G | Salla disease, Sialic acid storage disease, severe infantile type | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74304856
- GRCh38:
- Chr6:73595133
| SLC17A5 | A478T | Sialic acid storage disease, severe infantile type, Salla disease | Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:74304607
- GRCh38:
- Chr6:73594884
| SLC17A5 | | Sialic acid storage disease, severe infantile type, not provided, Salla disease
| Benign
(Mar 10, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:74304427
- GRCh38:
- Chr6:73594704
| SLC17A5 | | Salla disease, Sialic acid storage disease, severe infantile type | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74304415
- GRCh38:
- Chr6:73594692
| SLC17A5 | | not provided, Salla disease, Sialic acid storage disease, severe infantile type
| Benign
(May 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:74304322
- GRCh38:
- Chr6:73594599
| SLC17A5 | | Salla disease, Sialic acid storage disease, severe infantile type | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74304240
- GRCh38:
- Chr6:73594517
| SLC17A5 | | Salla disease, Sialic acid storage disease, severe infantile type | Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:74304205
- GRCh38:
- Chr6:73594482
| SLC17A5 | | Salla disease, Sialic acid storage disease, severe infantile type | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74304134
- GRCh38:
- Chr6:73594411
| SLC17A5 | | Salla disease, Sialic acid storage disease, severe infantile type | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74304038
- GRCh38:
- Chr6:73594315
| SLC17A5 | | Salla disease, Sialic acid storage disease, severe infantile type | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74304001
- GRCh38:
- Chr6:73594278
| SLC17A5 | | Salla disease, Sialic acid storage disease, severe infantile type | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74303983
- GRCh38:
- Chr6:73594260
| SLC17A5 | | Salla disease, Sialic acid storage disease, severe infantile type | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74303963
- GRCh38:
- Chr6:73594240
| SLC17A5 | | Sialic acid storage disease, severe infantile type, Salla disease | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74303899
- GRCh38:
- Chr6:73594176
| SLC17A5 | | Sialic acid storage disease, severe infantile type, Salla disease | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74303829
- GRCh38:
- Chr6:73594106
| SLC17A5 | | Sialic acid storage disease, severe infantile type, Salla disease | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74303468
- GRCh38:
- Chr6:73593745
| SLC17A5 | | Sialic acid storage disease, severe infantile type, Salla disease | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74303350
- GRCh38:
- Chr6:73593627
| SLC17A5 | | Sialic acid storage disease, severe infantile type, Salla disease | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74303308
- GRCh38:
- Chr6:73593585
| SLC17A5 | | Sialic acid storage disease, severe infantile type, Salla disease | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:74303267
- GRCh38:
- Chr6:73593544
| SLC17A5 | | Sialic acid storage disease, severe infantile type, Salla disease | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74303235
- GRCh38:
- Chr6:73593512
| SLC17A5 | | Sialic acid storage disease, severe infantile type, Salla disease | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74303234
- GRCh38:
- Chr6:73593511
| SLC17A5 | | Sialic acid storage disease, severe infantile type, Salla disease | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74303170
- GRCh38:
- Chr6:73593447
| SLC17A5 | | Sialic acid storage disease, severe infantile type, Salla disease | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:74303104
- GRCh38:
- Chr6:73593381
| SLC17A5 | | Sialic acid storage disease, severe infantile type, Salla disease | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:74310100
- GRCh38:
- Chr6:73600377
| SLC17A5 | V442I | not provided, Salla disease, Sialic acid storage disease, severe infantile type,
not specified | Conflicting interpretations of pathogenicity
(Oct 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:74351530
- GRCh38:
- Chr6:73641807
| SLC17A5 | M137fs | Salla disease | Pathogenic/Likely pathogenic
(Apr 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:74331619
- GRCh38:
- Chr6:73621896
| SLC17A5 | V296I | not specified, Salla disease, Sialic acid storage disease, severe infantile type
| Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:74331606
- GRCh38:
- Chr6:73621883
| SLC17A5 | S300F | Inborn genetic diseases, Sialic acid storage disease, severe infantile type, Salla disease,
not provided, Familial hypokalemia-hypomagnesemia, Salla disease,
Sialic acid storage disease, severe infantile type | Conflicting interpretations of pathogenicity
(Oct 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:74348215
- GRCh38:
- Chr6:73638492
| SLC17A5 | T178fs | not provided, Salla disease | Pathogenic/Likely pathogenic
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:74354175
- GRCh38:
- Chr6:73644452
| SLC17A5 | | not specified, not provided, Salla disease,
Sialic acid storage disease, severe infantile type | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:74351439
- GRCh38:
- Chr6:73641716
| SLC17A5 | L167P | not specified, Salla disease, Sialic acid storage disease, severe infantile type,
Inborn genetic diseases, Salla disease | Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:74345108-74345122
- GRCh38:
- Chr6:73635385-73635399
| SLC17A5 | | not provided, Salla disease | Pathogenic
(Dec 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:74351533
- GRCh38:
- Chr6:73641810
| SLC17A5 | K136E | Salla disease, Sialic acid storage disease, severe infantile type, not provided,
Salla disease | Pathogenic/Likely pathogenic
(Mar 24, 2023) | criteria provided, multiple submitters, no conflicts |