Total 152 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
Salla disease
Sialic acid storage disease, severe infantile type
Sialic acid storage disease, severe infantile type		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340439 rs_80338794

24 SubmittersRCV000005967RCV000414141RCV000763563RCV001095363
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
Multiple Submitters
No Conflicts
 CA253538 rs_119491109

3 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
Salla disease
Sialic acid storage disease, severe infantile type		 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 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

16 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
Salla disease
Sialic acid storage disease, severe infantile type		 Criteria Provided
Multiple Submitters
No Conflicts
 CA263923 rs_386833990

9 SubmittersRCV000049967RCV000426686RCV005031537
NM_012434.5(SLC17A5):c.309G>A (p.Trp103Ter) SNV
Unknown		 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
Unknown		 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
Inborn genetic diseases
Salla disease
not specified
Sialic acid storage disease, severe infantile type
Salla disease		 Criteria Provided
Conflicting Classifications
 CA267594 rs_587779410

8 SubmittersRCV000087101RCV000622448RCV001271946RCV001731374RCV002477258
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter) SNV
Germline		 Chr6:73653844 Pathogenic/Likely pathogenic Condition: not provided
Salla disease
Sialic acid storage disease, severe infantile type
Salla disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA234946 rs_727504157

7 SubmittersRCV000153957RCV001264451RCV005042300
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) SNV
Germline		 Chr6:73621883 Conflicting classifications of pathogenicity Condition: not provided
Sialic acid storage disease, severe infantile type
Salla disease
Salla disease
Sialic acid storage disease, severe infantile type
Familial hypokalemia-hypomagnesemia
Inborn genetic diseases
Enhanced S-cone syndrome		 Criteria Provided
Conflicting Classifications
 CA236266 rs_142553916

14 SubmittersRCV000171400RCV000764656RCV001082286RCV001162237RCV002284193RCV002515239RCV004813072
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.1432G>A (p.Ala478Thr) SNV
Germline		 Chr6:73595133 Conflicting classifications of pathogenicity Salla disease
Sialic acid storage disease, severe infantile type
SLC17A5-related disorder
Salla disease
Sialic acid storage disease, severe infantile type		 Criteria Provided
Conflicting Classifications
 CA3890255 rs_141341430

5 SubmittersRCV000332192RCV001095269RCV004544679RCV005033902
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
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3890297 rs_374241516

4 SubmittersRCV000289255RCV001095163RCV004965442
NM_012434.5(SLC17A5):c.1350+1G>A SNV
Unknown		 Chr6:73600350 Likely pathogenic Salla disease Criteria Provided
Single Submitter
 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
Colon adenocarcinoma
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16041077 rs_146095590

7 SubmittersRCV000005969RCV000409414RCV003137984RCV005900631RCV005900630
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 Salla disease Criteria Provided
Single Submitter
 CA16041081 rs_1057516601

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

9 SubmittersRCV000412283RCV000437560RCV002509063RCV005033917
NM_012434.5(SLC17A5):c.384T>A (p.Tyr128Ter) SNV
Unknown		 Chr6:73641832 Likely pathogenic Salla disease No Assertion Criteria Provided
 CA16041085 rs_1057516257

1 SubmittersRCV000409833
NM_012434.5(SLC17A5):c.292-2A>C SNV
Unknown		 Chr6:73641926 Likely pathogenic Salla disease No Assertion Criteria Provided
 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
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
 CA3890602 rs_769235753

12 SubmittersRCV000496107RCV001548541RCV001332964RCV005034037
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter) SNV
Germline		 Chr6:73621864 Pathogenic not specified
Salla disease
Salla disease
Sialic acid storage disease, severe infantile type
Condition: not provided
Sialic acid storage disease, severe infantile type		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3890395 rs_201284672

13 SubmittersRCV000506820RCV000670139RCV000763561RCV001093179RCV001270049
NM_012434.5(SLC17A5):c.820-2A>C SNV
Unknown		 Chr6:73621964 Likely pathogenic Salla disease No Assertion Criteria Provided
 CA364713762 rs_1554162842

1 SubmittersRCV000669078
NM_012434.5(SLC17A5):c.613+2T>A SNV
Unknown		 Chr6:73638410 Likely pathogenic Salla disease No Assertion Criteria Provided
 CA364716693 rs_1554164078

1 SubmittersRCV000666942
NM_012434.5(SLC17A5):c.1259+1G>T SNV
Unknown		 Chr6:73610399 Likely pathogenic Salla disease Criteria Provided
Single Submitter
 CA364720823 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
 CA364712442 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
 CA364716381 rs_1440688652

3 SubmittersRCV000667777
NM_012434.5(SLC17A5):c.526-2A>G SNV
Unknown		 Chr6:73638501 Pathogenic Salla disease No Assertion Criteria Provided
 CA364716971 rs_1554164096

1 SubmittersRCV000671606
NM_012434.5(SLC17A5):c.614-1G>A SNV
Germline		 Chr6:73636708 Likely pathogenic Salla disease Criteria Provided
Single Submitter
 CA364716687 rs_1554163958

2 SubmittersRCV000667375
NM_012434.5(SLC17A5):c.292-1G>C SNV
Unknown		 Chr6:73641925 Likely pathogenic Salla disease No Assertion Criteria Provided
 CA364718392 rs_1554164322

1 SubmittersRCV000673622
NM_012434.5(SLC17A5):c.1111+1G>T SNV
Germline		 Chr6:73615314 Likely pathogenic Salla disease
Salla disease
Sialic acid storage disease, severe infantile type		 Criteria Provided
Multiple Submitters
No Conflicts
 CA364712138 rs_777862172

5 SubmittersRCV001379556RCV005047029
NM_012434.5(SLC17A5):c.221T>A (p.Leu74Ter) SNV
Germline		 Chr6:73644477 Pathogenic Salla disease Criteria Provided
Single Submitter
 CA364718931 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
Sialic acid storage disease, severe infantile type
Salla disease		 Criteria Provided
Conflicting Classifications
 CA3890622 rs_141463026

8 SubmittersRCV000963033RCV001164258RCV001086121RCV004535925RCV005392588
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
 CA3890389 rs_147732875

7 SubmittersRCV000894091RCV001160617RCV002372516RCV002512132RCV004541842
NM_012434.5(SLC17A5):c.923T>G (p.Leu308Ter) SNV
Germline		 Chr6:73621859 Pathogenic Salla disease Criteria Provided
Single Submitter
 CA364713398 rs_766036082

1 SubmittersRCV001043461
NM_012434.5(SLC17A5):c.786A>C (p.Glu262Asp) SNV
Germline		 Chr6:73635415 Likely pathogenic Sialic acid storage disease, severe infantile type
Salla disease
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA364715911 rs_1768948534

4 SubmittersRCV001090089RCV001260955RCV004726874
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
 CA3890327 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
 CA140973803 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
 CA364716696 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
 CA364720116 rs_1769984400

2 SubmittersRCV001217247
NM_012434.5(SLC17A5):c.619C>T (p.Gln207Ter) SNV
Germline		 Chr6:73636702 Pathogenic/Likely pathogenic Sialic acid storage disease, severe infantile type
SLC17A5-related disorder
Salla disease
Sialic acid storage disease, severe infantile type
Salla disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA364716675 rs_1769021763

5 SubmittersRCV002298911RCV004727019RCV005036511RCV001234201
NM_012434.5(SLC17A5):c.809T>A (p.Leu270Ter) SNV
Germline		 Chr6:73635392 Pathogenic/Likely pathogenic Sialic acid storage disease, severe infantile type
Salla disease
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA364715752 rs_1768947396

2 SubmittersRCV001249651RCV005250165
NM_012434.5(SLC17A5):c.1A>G (p.Met1Val) SNV
Germline		 Chr6:73653886 Likely pathogenic Salla disease Criteria Provided
Single Submitter
 CA364720311 rs_1304456183

1 SubmittersRCV001378755
NM_012434.5(SLC17A5):c.976G>T (p.Glu326Ter) SNV
Germline		 Chr6:73621806 Pathogenic Salla disease Criteria Provided
Single Submitter
 CA364713169 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
 CA3890354 rs_777862172

3 SubmittersRCV001844399RCV002539590
NM_012434.5(SLC17A5):c.1A>T (p.Met1Leu) SNV
Germline		 Chr6:73653886 Pathogenic/Likely pathogenic Salla disease
Salla disease
Sialic acid storage disease, severe infantile type		 Criteria Provided
Multiple Submitters
No Conflicts
 CA364720310 rs_1304456183

2 SubmittersRCV001867160RCV005038374
NM_012434.5(SLC17A5):c.978+1G>A SNV
Germline		 Chr6:73621803 Likely pathogenic Salla disease Criteria Provided
Single Submitter
 CA364713163 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
Sialic acid storage disease, severe infantile type
Salla disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3890444 rs_755923873

5 SubmittersRCV001939569RCV004538684RCV005032003
NM_012434.5(SLC17A5):c.829C>T (p.Gln277Ter) SNV
Germline		 Chr6:73621953 Pathogenic/Likely pathogenic Salla disease
Salla disease
Sialic acid storage disease, severe infantile type		 Criteria Provided
Multiple Submitters
No Conflicts
 CA364713739 rs_1768174708

2 SubmittersRCV001972541RCV005032013
NM_012434.5(SLC17A5):c.169C>T (p.Arg57Cys) SNV
Germline		 Chr6:73644529 Likely pathogenic Salla disease Criteria Provided
Multiple Submitters
No Conflicts
 CA3890595 rs_754150739

2 SubmittersRCV002006459
NM_012434.5(SLC17A5):c.724C>A (p.Leu242Ile) SNV
Germline		 Chr6:73635477 Conflicting classifications of pathogenicity Salla disease
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3890447 rs_757218186

2 SubmittersRCV001895277RCV005732526
NM_012434.5(SLC17A5):c.903C>G (p.Tyr301Ter) SNV
Unknown		 Chr6:73621879 Likely pathogenic Salla disease
Sialic acid storage disease, severe infantile type		 Criteria Provided
Single Submitter
 CA364713510 rs_1768168686

1 SubmittersRCV002306680
NM_012434.5(SLC17A5):c.693C>A (p.Tyr231Ter) SNV
Unknown		 Chr6:73636628 Likely pathogenic Salla disease
Sialic acid storage disease, severe infantile type		 Criteria Provided
Single Submitter
 CA364716418 rs_2533494568

1 SubmittersRCV002308380
NM_012434.5(SLC17A5):c.857T>A (p.Leu286Ter) SNV
Unknown		 Chr6:73621925 Likely pathogenic Salla disease
Sialic acid storage disease, severe infantile type		 Criteria Provided
Single Submitter
 CA364713682 rs_2533450732

1 SubmittersRCV002310172
NM_012434.5(SLC17A5):c.1A>C (p.Met1Leu) SNV
Germline		 Chr6:73653886 Pathogenic Salla disease Criteria Provided
Single Submitter
 CA364720312 rs_1304456183

1 SubmittersRCV002604707
NM_012434.5(SLC17A5):c.908G>A (p.Trp303Ter) SNV
Germline		 Chr6:73621874 Pathogenic Salla disease Criteria Provided
Single Submitter
 CA364713478 rs_1581971388

1 SubmittersRCV002820214
NM_012434.5(SLC17A5):c.329G>A (p.Trp110Ter) SNV
Germline		 Chr6:73641887 Pathogenic Salla disease Criteria Provided
Single Submitter
 CA364718302 rs_1769303765

1 SubmittersRCV002837570
NM_012434.5(SLC17A5):c.1039C>T (p.Gln347Ter) SNV
Germline		 Chr6:73615387 Pathogenic Salla disease Criteria Provided
Single Submitter
 CA364712303 rs_2533429418

1 SubmittersRCV002858469
NM_012434.5(SLC17A5):c.407A>G (p.Lys136Arg) SNV
Germline		 Chr6:73641809 Likely pathogenic Salla disease Criteria Provided
Single Submitter
 CA364718138 rs_1279505129

1 SubmittersRCV002975110
NM_012434.5(SLC17A5):c.903C>A (p.Tyr301Ter) SNV
Germline		 Chr6:73621879 Pathogenic Inborn genetic diseases
Salla disease		 Criteria Provided
Single Submitter
 CA364713512 rs_1768168686

2 SubmittersRCV002778558RCV005608907
NM_012434.5(SLC17A5):c.952G>T (p.Glu318Ter) SNV
Germline		 Chr6:73621830 Pathogenic Salla disease Criteria Provided
Single Submitter
 CA364713260 rs_2533450214

1 SubmittersRCV003331752
NM_012434.5(SLC17A5):c.221T>G (p.Leu74Ter) SNV
Unknown		 Chr6:73644477 Likely pathogenic Salla disease Criteria Provided
Single Submitter
 CA364718933 rs_1474077825

1 SubmittersRCV003472759
NM_012434.5(SLC17A5):c.1260-2A>C SNV
Germline		 Chr6:73600443 Pathogenic/Likely pathogenic Salla disease
Sialic acid storage disease, severe infantile type
Salla disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA140972190 rs_144074675

2 SubmittersRCV003472762RCV005036819
NM_012434.5(SLC17A5):c.95-1G>A SNV
Unknown		 Chr6:73644604 Likely pathogenic Salla disease Criteria Provided
Single Submitter
 CA364719454 rs_386833995

1 SubmittersRCV003472764
NM_012434.5(SLC17A5):c.308G>A (p.Trp103Ter) SNV
Unknown		 Chr6:73641908 Likely pathogenic Salla disease Criteria Provided
Single Submitter
 CA364718351 rs_1299876653

1 SubmittersRCV003472765
NM_012434.5(SLC17A5):c.790G>T (p.Glu264Ter) SNV
Germline		 Chr6:73635411 Likely pathogenic Salla disease
Sialic acid storage disease, severe infantile type
Salla disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA364715881 rs_2533490979

2 SubmittersRCV003472766RCV005036820
NM_012434.5(SLC17A5):c.979-1G>T SNV
Germline		 Chr6:73615448 Pathogenic/Likely pathogenic Salla disease
Salla disease
Sialic acid storage disease, severe infantile type		 Criteria Provided
Multiple Submitters
No Conflicts
 CA364712440 rs_2533429751

3 SubmittersRCV003472767RCV005047614
NM_012434.5(SLC17A5):c.701-1G>A SNV
Unknown		 Chr6:73635501 Likely pathogenic Salla disease Criteria Provided
Single Submitter
 CA364716375 rs_2533491438

1 SubmittersRCV003472772
NM_012434.5(SLC17A5):c.286C>T (p.Gln96Ter) SNV
Germline		 Chr6:73644412 Likely pathogenic Salla disease
Sialic acid storage disease, severe infantile type
Salla disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA364718552 rs_2533519854

2 SubmittersRCV003472773RCV005047615
NM_012434.5(SLC17A5):c.684T>G (p.Tyr228Ter) SNV
Germline		 Chr6:73636637 Pathogenic Salla disease Criteria Provided
Single Submitter
 CA364716457 rs_1554163945

1 SubmittersRCV003505719
NM_012434.5(SLC17A5):c.757C>T (p.Gln253Ter) SNV
Germline		 Chr6:73635444 Pathogenic Salla disease Criteria Provided
Single Submitter
 CA364716122 rs_2533491152

1 SubmittersRCV003613638
NM_012434.5(SLC17A5):c.94+1G>A SNV
Germline		 Chr6:73653792 Likely pathogenic Salla disease Criteria Provided
Single Submitter
 CA364720119 rs_2533549900

1 SubmittersRCV003881494
NM_012434.5(SLC17A5):c.95-1G>T SNV
Unknown		 Chr6:73644604 Likely pathogenic Salla disease Criteria Provided
Single Submitter
 rs_386833995

1 SubmittersRCV004573603
NM_000536.4(RAG2):c.10C>T (p.Gln4Ter) SNV
Germline		 Chr11:36594159 Likely pathogenic Salla disease
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		 Criteria Provided
Single Submitter

1 SubmittersRCV004813323RCV005860447
NM_012434.5(SLC17A5):c.782A>G (p.Tyr261Cys) SNV
Germline		 Chr6:73635419 Conflicting classifications of pathogenicity Sialic acid storage disease, severe infantile type
Salla disease
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005033485RCV005734735
NM_012434.5(SLC17A5):c.677G>A (p.Trp226Ter) SNV
Germline		 Chr6:73636644 Likely pathogenic Sialic acid storage disease, severe infantile type
Salla disease		 Criteria Provided
Single Submitter

1 SubmittersRCV005045844
NM_012434.5(SLC17A5):c.558G>A (p.Trp186Ter) SNV
Germline		 Chr6:73638467 Likely pathogenic Sialic acid storage disease, severe infantile type
Salla disease		 Criteria Provided
Single Submitter

1 SubmittersRCV005033489
NM_012434.5(SLC17A5):c.418G>T (p.Gly140Ter) SNV
Germline		 Chr6:73641798 Likely pathogenic Sialic acid storage disease, severe infantile type
Salla disease		 Criteria Provided
Single Submitter

1 SubmittersRCV005033495
NM_012434.5(SLC17A5):c.16C>T (p.Arg6Ter) SNV
Germline		 Chr6:73653871 Likely pathogenic Sialic acid storage disease, severe infantile type
Salla disease		 Criteria Provided
Single Submitter

1 SubmittersRCV005045853