Total 140 pathogenic variants reported for Salla disease 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys) SNV
Germline		 Chr6:73644583 Pathogenic Salla disease
Condition: not provided
Sialic acid storage disease, severe infantile type
Sialic acid storage disease, severe infantile type
Salla disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340439 rs_80338794

22 SubmittersRCV000005967RCV000414141RCV001095363RCV000763563
NM_012434.5(SLC17A5):c.548A>G (p.His183Arg) SNV
Germline		 Chr6:73638477 Likely pathogenic Sialic acid storage disease, severe infantile type
Salla disease		 Criteria Provided
Single Submitter
 CA253538 rs_119491109

2 SubmittersRCV000005970RCV004566684
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg) SNV
Germline		 Chr6:73615425 Pathogenic/Likely pathogenic Sialic acid storage disease, severe infantile type
Salla disease
Sialic acid storage disease, severe infantile type
Salla disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA253539 rs_119491110

5 SubmittersRCV000005971RCV002512816RCV002496276
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) SNV
Germline		 Chr6:73641810 Pathogenic/Likely pathogenic Salla disease
Condition: not provided
Salla disease
Sialic acid storage disease, severe infantile type
Sialic acid storage disease, severe infantile type		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342129 rs_80338795

14 SubmittersRCV000020682RCV000412731RCV000763562RCV001095364
NM_012434.5(SLC17A5):c.1226G>A (p.Gly409Glu) SNV
Germline		 Chr6:73610433 Likely pathogenic Salla disease Criteria Provided
Single Submitter
 CA263921 rs_386833989

2 SubmittersRCV000049966
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=) SNV
Germline		 Chr6:73644407 Pathogenic/Likely pathogenic Salla disease
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA263923 rs_386833990

8 SubmittersRCV000049967RCV000426686
NM_012434.5(SLC17A5):c.309G>A (p.Trp103Ter) SNV
Not provided		 Chr6:73641907 Likely pathogenic Salla disease No Assertion Criteria Provided
 CA263925 rs_386833991

1 SubmittersRCV000049968
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter) SNV
Germline		 Chr6:73635482 Pathogenic/Likely pathogenic Salla disease Criteria Provided
Multiple Submitters
No Conflicts
 CA263928 rs_386833993

5 SubmittersRCV000049970
NM_012434.5(SLC17A5):c.95-1G>C SNV
Not provided		 Chr6:73644604 Likely pathogenic Salla disease No Assertion Criteria Provided
 CA263932 rs_386833995

1 SubmittersRCV000049972
NM_012434.5(SLC17A5):c.983G>A (p.Gly328Glu) SNV
Unknown		 Chr6:73615443 Likely pathogenic Salla disease Criteria Provided
Single Submitter
 CA263933 rs_386833996

2 SubmittersRCV000049973
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro) SNV
Germline		 Chr6:73641716 Conflicting classifications of pathogenicity Sialic acid storage disease, severe infantile type
Salla disease
Salla disease
Sialic acid storage disease, severe infantile type
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA267594 rs_587779410

8 SubmittersRCV000087101RCV001271946RCV002477258RCV000622448RCV001731374
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter) SNV
Germline		 Chr6:73653844 Pathogenic/Likely pathogenic Condition: not provided
Salla disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA234946 rs_727504157

5 SubmittersRCV000153957RCV001264451
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) SNV
Germline		 Chr6:73621883 Conflicting classifications of pathogenicity Condition: not provided
Salla disease
Sialic acid storage disease, severe infantile type
Salla disease
Familial hypokalemia-hypomagnesemia
Sialic acid storage disease, severe infantile type
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA236266 rs_142553916

13 SubmittersRCV000171400RCV000764656RCV001082286RCV002284193RCV001162237RCV002515239
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile) SNV
Germline		 Chr6:73600377 Conflicting classifications of pathogenicity Condition: not provided
not specified
Salla disease
Sialic acid storage disease, severe infantile type
SLC17A5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3890290 rs_74360232

10 SubmittersRCV000224654RCV000327513RCV001083032RCV001164158RCV004532820
NM_012434.5(SLC17A5):c.*1630G>T SNV
Germline		 Chr6:73593447 Conflicting classifications of pathogenicity Salla disease
Sialic acid storage disease, severe infantile type		 Criteria Provided
Conflicting Classifications
 CA10622674 rs_141885984

1 SubmittersRCV000272901RCV001095260
NM_012434.5(SLC17A5):c.*1492C>G SNV
Germline		 Chr6:73593585 Conflicting classifications of pathogenicity Salla disease
Sialic acid storage disease, severe infantile type		 Criteria Provided
Conflicting Classifications
 CA10622678 rs_148144074

1 SubmittersRCV000336381RCV001095152
NM_012434.5(SLC17A5):c.1432G>A (p.Ala478Thr) SNV
Germline		 Chr6:73595133 Conflicting classifications of pathogenicity Salla disease
Sialic acid storage disease, severe infantile type
SLC17A5-related disorder		 Criteria Provided
Conflicting Classifications
 CA3890255 rs_141341430

3 SubmittersRCV000332192RCV001095269RCV004544679
NM_012434.5(SLC17A5):c.*560G>A SNV
Germline		 Chr6:73594517 Conflicting classifications of pathogenicity Salla disease
Sialic acid storage disease, severe infantile type
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10627566 rs_115453489

2 SubmittersRCV000305576RCV001095189RCV003430926
NM_012434.5(SLC17A5):c.1272C>A (p.Ile424=) SNV
Germline		 Chr6:73600429 Conflicting classifications of pathogenicity Salla disease
Sialic acid storage disease, severe infantile type		 Criteria Provided
Conflicting Classifications
 CA3890297 rs_374241516

3 SubmittersRCV000289255RCV001095163
NM_012434.5(SLC17A5):c.1350+1G>A SNV
Unknown		 Chr6:73600350 Likely pathogenic Salla disease Criteria Provided
Multiple Submitters
No Conflicts
 CA16041076 rs_1057516951

2 SubmittersRCV000411919
NM_012434.5(SLC17A5):c.1259+1G>A SNV
Germline		 Chr6:73610399 Pathogenic/Likely pathogenic Sialic acid storage disease, severe infantile type
Salla disease
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16041077 rs_146095590

6 SubmittersRCV000005969RCV000409414RCV003137984
NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter) SNV
Germline		 Chr6:73615410 Pathogenic/Likely pathogenic Salla disease Criteria Provided
Multiple Submitters
No Conflicts
 CA16041080 rs_1057516910

5 SubmittersRCV000410279
NM_012434.5(SLC17A5):c.909G>A (p.Trp303Ter) SNV
Germline		 Chr6:73621873 Pathogenic/Likely pathogenic Salla disease Criteria Provided
Multiple Submitters
No Conflicts
 CA16041081 rs_1057516601

2 SubmittersRCV000409832
NM_012434.5(SLC17A5):c.819+1G>A SNV
Germline		 Chr6:73635381 Pathogenic/Likely pathogenic Salla disease
Condition: not provided
Intermediate severe Salla disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16041082 rs_1057517028

8 SubmittersRCV000412283RCV000437560RCV002509063
NM_012434.5(SLC17A5):c.384T>A (p.Tyr128Ter) SNV
Unknown		 Chr6:73641832 Likely pathogenic Salla disease Criteria Provided
Single Submitter
 CA16041085 rs_1057516257

1 SubmittersRCV000409833
NM_012434.5(SLC17A5):c.292-2A>C SNV
Unknown		 Chr6:73641926 Likely pathogenic Salla disease Criteria Provided
Single Submitter
 CA16041087 rs_1057516528

1 SubmittersRCV000412121
NM_012434.5(SLC17A5):c.1259+2T>C SNV
Germline		 Chr6:73610398 Pathogenic Condition: not provided
Salla disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16618305 rs_1064794334

2 SubmittersRCV000485108RCV001865447
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His) SNV
Germline		 Chr6:73644582 Pathogenic/Likely pathogenic Salla disease
Sialic acid storage disease, severe infantile type
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3890602 rs_769235753

9 SubmittersRCV000496107RCV001332964RCV001548541
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter) SNV
Germline		 Chr6:73621864 Pathogenic not specified
Salla disease
Condition: not provided
Sialic acid storage disease, severe infantile type
Salla disease
Sialic acid storage disease, severe infantile type		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3890395 rs_201284672

13 SubmittersRCV000506820RCV000670139RCV001093179RCV000763561RCV001270049
NM_012434.5(SLC17A5):c.820-2A>C SNV
Unknown		 Chr6:73621964 Likely pathogenic Salla disease Criteria Provided
Single Submitter
 rs_1554162842

1 SubmittersRCV000669078
NM_012434.5(SLC17A5):c.613+2T>A SNV
Unknown		 Chr6:73638410 Likely pathogenic Salla disease Criteria Provided
Single Submitter
 rs_1554164078

1 SubmittersRCV000666942
NM_012434.5(SLC17A5):c.1259+1G>T SNV
Unknown		 Chr6:73610399 Likely pathogenic Salla disease Criteria Provided
Multiple Submitters
No Conflicts
 rs_146095590

2 SubmittersRCV000668821
NM_012434.5(SLC17A5):c.979-2A>G SNV
Germline		 Chr6:73615449 Likely pathogenic Salla disease Criteria Provided
Multiple Submitters
No Conflicts
 rs_1554162230

3 SubmittersRCV000672852
NM_012434.5(SLC17A5):c.700+2T>C SNV
Germline		 Chr6:73636619 Likely pathogenic Salla disease Criteria Provided
Multiple Submitters
No Conflicts
 rs_1440688652

3 SubmittersRCV000667777
NM_012434.5(SLC17A5):c.526-2A>G SNV
Unknown		 Chr6:73638501 Pathogenic Salla disease Criteria Provided
Single Submitter
 rs_1554164096

1 SubmittersRCV000671606
NM_012434.5(SLC17A5):c.614-1G>A SNV
Unknown		 Chr6:73636708 Likely pathogenic Salla disease Criteria Provided
Single Submitter
 rs_1554163958

1 SubmittersRCV000667375
NM_012434.5(SLC17A5):c.292-1G>C SNV
Unknown		 Chr6:73641925 Likely pathogenic Salla disease Criteria Provided
Single Submitter
 rs_1554164322

1 SubmittersRCV000673622
NM_012434.5(SLC17A5):c.553A>G (p.Met185Val) SNV
Germline		 Chr6:73638472 Conflicting classifications of pathogenicity Condition: not provided
Salla disease
Sialic acid storage disease, severe infantile type		 Criteria Provided
Conflicting Classifications
 rs_34348416

4 SubmittersRCV000675826RCV001082196RCV001164257
NM_012434.5(SLC17A5):c.1111+1G>T SNV
Germline		 Chr6:73615314 Conflicting classifications of pathogenicity SLC17A5-related disorder
Salla disease		 Criteria Provided
Conflicting Classifications
 rs_777862172

5 SubmittersRCV000778803RCV001379556
NM_012434.5(SLC17A5):c.221T>A (p.Leu74Ter) SNV
Germline		 Chr6:73644477 Pathogenic Salla disease Criteria Provided
Single Submitter
 rs_1474077825

1 SubmittersRCV000798871
NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr) SNV
Germline		 Chr6:73653802 Conflicting classifications of pathogenicity Condition: not provided
Sialic acid storage disease, severe infantile type
Salla disease
SLC17A5-related disorder		 Criteria Provided
Conflicting Classifications
 rs_141463026

6 SubmittersRCV000963033RCV001164258RCV001086121RCV004535925
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=) SNV
Germline		 Chr6:73621825 Conflicting classifications of pathogenicity Salla disease
Sialic acid storage disease, severe infantile type
Inborn genetic diseases
Condition: not provided
SLC17A5-related disorder		 Criteria Provided
Conflicting Classifications
 rs_147732875

7 SubmittersRCV000894091RCV001160617RCV002372516RCV002512132RCV004541842
NM_012434.5(SLC17A5):c.923T>G (p.Leu308Ter) SNV
Germline		 Chr6:73621859 Pathogenic Salla disease Criteria Provided
Single Submitter
 rs_766036082

1 SubmittersRCV001043461
NM_012434.5(SLC17A5):c.786A>C (p.Glu262Asp) SNV
Germline		 Chr6:73635415 Likely pathogenic Salla disease
Sialic acid storage disease, severe infantile type		 Criteria Provided
Single Submitter
 rs_1768948534

2 SubmittersRCV001260955RCV001090089
NM_012434.5(SLC17A5):c.1176C>T (p.Ala392=) SNV
Germline		 Chr6:73610483 Conflicting classifications of pathogenicity Sialic acid storage disease, severe infantile type
Salla disease		 Criteria Provided
Conflicting Classifications
 rs_372195490

3 SubmittersRCV001160613RCV001160614
NM_012434.5(SLC17A5):c.573C>G (p.Pro191=) SNV
Germline		 Chr6:73638452 Conflicting classifications of pathogenicity Sialic acid storage disease, severe infantile type
Salla disease		 Criteria Provided
Conflicting Classifications
 rs_924683894

3 SubmittersRCV001164255RCV001164256
NM_012434.5(SLC17A5):c.613+1G>A SNV
Germline		 Chr6:73638411 Likely pathogenic Salla disease Criteria Provided
Multiple Submitters
No Conflicts
 rs_1769124033

2 SubmittersRCV001217755
NM_012434.5(SLC17A5):c.94+2T>A SNV
Germline		 Chr6:73653791 Likely pathogenic Salla disease Criteria Provided
Multiple Submitters
No Conflicts
 rs_1769984400

2 SubmittersRCV001217247
NM_012434.5(SLC17A5):c.619C>T (p.Gln207Ter) SNV
Germline		 Chr6:73636702 Pathogenic/Likely pathogenic Salla disease
Sialic acid storage disease, severe infantile type		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1769021763

3 SubmittersRCV001234201RCV002298911
NM_012434.5(SLC17A5):c.809T>A (p.Leu270Ter) SNV
Germline		 Chr6:73635392 Pathogenic Salla disease
Sialic acid storage disease, severe infantile type		 Criteria Provided
Single Submitter
 rs_1768947396

1 SubmittersRCV001249651
NM_012434.5(SLC17A5):c.1A>G (p.Met1Val) SNV
Germline		 Chr6:73653886 Likely pathogenic Salla disease Criteria Provided
Single Submitter
 rs_1304456183

1 SubmittersRCV001378755
NM_012434.5(SLC17A5):c.976G>T (p.Glu326Ter) SNV
Germline		 Chr6:73621806 Pathogenic Salla disease Criteria Provided
Single Submitter
 rs_745386414

1 SubmittersRCV001389588
NM_012434.5(SLC17A5):c.1111+1G>A SNV
Germline		 Chr6:73615314 Pathogenic/Likely pathogenic Sialic acid storage disease, severe infantile type
Salla disease		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_777862172

3 SubmittersRCV001844399RCV002539590
NM_012434.5(SLC17A5):c.1A>T (p.Met1Leu) SNV
Germline		 Chr6:73653886 Pathogenic Salla disease Criteria Provided
Single Submitter
 rs_1304456183

1 SubmittersRCV001867160
NM_012434.5(SLC17A5):c.978+1G>A SNV
Germline		 Chr6:73621803 Likely pathogenic Salla disease Criteria Provided
Single Submitter
 rs_2150099218

1 SubmittersRCV002013347
NM_012434.5(SLC17A5):c.738G>A (p.Trp246Ter) SNV
Germline		 Chr6:73635463 Pathogenic/Likely pathogenic Salla disease
SLC17A5-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_755923873

4 SubmittersRCV001939569RCV004538684
NM_012434.5(SLC17A5):c.829C>T (p.Gln277Ter) SNV
Germline		 Chr6:73621953 Pathogenic Salla disease Criteria Provided
Single Submitter
 rs_1768174708

1 SubmittersRCV001972541
NM_012434.5(SLC17A5):c.169C>T (p.Arg57Cys) SNV
Germline		 Chr6:73644529 Likely pathogenic Salla disease Criteria Provided
Multiple Submitters
No Conflicts
 rs_754150739

2 SubmittersRCV002006459
NM_012434.5(SLC17A5):c.903C>G (p.Tyr301Ter) SNV
Unknown		 Chr6:73621879 Likely pathogenic Sialic acid storage disease, severe infantile type
Salla disease		 Criteria Provided
Single Submitter

1 SubmittersRCV002306680
NM_012434.5(SLC17A5):c.693C>A (p.Tyr231Ter) SNV
Unknown		 Chr6:73636628 Likely pathogenic Sialic acid storage disease, severe infantile type
Salla disease		 Criteria Provided
Single Submitter

1 SubmittersRCV002308380
NM_012434.5(SLC17A5):c.857T>A (p.Leu286Ter) SNV
Unknown		 Chr6:73621925 Likely pathogenic Sialic acid storage disease, severe infantile type
Salla disease		 Criteria Provided
Single Submitter

1 SubmittersRCV002310172
NM_012434.5(SLC17A5):c.1A>C (p.Met1Leu) SNV
Germline		 Chr6:73653886 Pathogenic Salla disease Criteria Provided
Single Submitter

1 SubmittersRCV002604707
NM_012434.5(SLC17A5):c.908G>A (p.Trp303Ter) SNV
Germline		 Chr6:73621874 Pathogenic Salla disease Criteria Provided
Single Submitter

1 SubmittersRCV002820214
NM_012434.5(SLC17A5):c.329G>A (p.Trp110Ter) SNV
Germline		 Chr6:73641887 Pathogenic Salla disease Criteria Provided
Single Submitter

1 SubmittersRCV002837570
NM_012434.5(SLC17A5):c.1039C>T (p.Gln347Ter) SNV
Germline		 Chr6:73615387 Pathogenic Salla disease Criteria Provided
Single Submitter

1 SubmittersRCV002858469
NM_012434.5(SLC17A5):c.407A>G (p.Lys136Arg) SNV
Germline		 Chr6:73641809 Likely pathogenic Salla disease Criteria Provided
Single Submitter

1 SubmittersRCV002975110
NM_012434.5(SLC17A5):c.952G>T (p.Glu318Ter) SNV
Germline		 Chr6:73621830 Pathogenic Salla disease Criteria Provided
Single Submitter

1 SubmittersRCV003331752
NM_012434.5(SLC17A5):c.221T>G (p.Leu74Ter) SNV
Unknown		 Chr6:73644477 Likely pathogenic Salla disease Criteria Provided
Single Submitter

1 SubmittersRCV003472759
NM_012434.5(SLC17A5):c.1260-2A>C SNV
Unknown		 Chr6:73600443 Pathogenic Salla disease Criteria Provided
Single Submitter

1 SubmittersRCV003472762
NM_012434.5(SLC17A5):c.95-1G>A SNV
Unknown		 Chr6:73644604 Likely pathogenic Salla disease Criteria Provided
Single Submitter

1 SubmittersRCV003472764
NM_012434.5(SLC17A5):c.308G>A (p.Trp103Ter) SNV
Unknown		 Chr6:73641908 Likely pathogenic Salla disease Criteria Provided
Single Submitter

1 SubmittersRCV003472765
NM_012434.5(SLC17A5):c.790G>T (p.Glu264Ter) SNV
Unknown		 Chr6:73635411 Likely pathogenic Salla disease Criteria Provided
Single Submitter

1 SubmittersRCV003472766
NM_012434.5(SLC17A5):c.979-1G>T SNV
Unknown		 Chr6:73615448 Pathogenic Salla disease Criteria Provided
Single Submitter

1 SubmittersRCV003472767
NM_012434.5(SLC17A5):c.701-1G>A SNV
Unknown		 Chr6:73635501 Likely pathogenic Salla disease Criteria Provided
Single Submitter

1 SubmittersRCV003472772
NM_012434.5(SLC17A5):c.286C>T (p.Gln96Ter) SNV
Unknown		 Chr6:73644412 Likely pathogenic Salla disease Criteria Provided
Single Submitter

1 SubmittersRCV003472773
NM_012434.5(SLC17A5):c.684T>G (p.Tyr228Ter) SNV
Germline		 Chr6:73636637 Pathogenic Salla disease Criteria Provided
Single Submitter

1 SubmittersRCV003505719
NM_012434.5(SLC17A5):c.757C>T (p.Gln253Ter) SNV
Germline		 Chr6:73635444 Pathogenic Salla disease Criteria Provided
Single Submitter

1 SubmittersRCV003613638
NM_012434.5(SLC17A5):c.94+1G>A SNV
Germline		 Chr6:73653792 Likely pathogenic Salla disease Criteria Provided
Single Submitter

1 SubmittersRCV003881494
NM_012434.5(SLC17A5):c.95-1G>T SNV
Unknown		 Chr6:73644604 Likely pathogenic Salla disease Criteria Provided
Single Submitter

1 SubmittersRCV004573603