Total 64 pathogenic variants reported for Congenital glucose-galactose malabsorption 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000343.4(SLC5A1):c.82G>A (p.Asp28Asn) SNV
Germline		 Chr22:32043363 Likely pathogenic Congenital glucose-galactose malabsorption Criteria Provided
Single Submitter
 CA122781 rs_121912668

2 SubmittersRCV000013770
NM_000343.4(SLC5A1):c.136-1G>A SNV
Germline		 Chr22:32049942 Likely pathogenic Congenital glucose-galactose malabsorption Criteria Provided
Single Submitter
 rs_267606230

1 SubmittersRCV005029289
NM_000343.4(SLC5A1):c.1673G>A (p.Arg558His) SNV
Germline		 Chr22:32104793 Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA151364 rs_201799893

5 SubmittersRCV000114940RCV000726922
NM_000343.4(SLC5A1):c.549C>T (p.Leu183=) SNV
Germline		 Chr22:32081937 Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption Criteria Provided
Conflicting Classifications
 CA10197989 rs_376255565

2 SubmittersRCV000328162
NM_000343.4(SLC5A1):c.1230C>G (p.Tyr410Ter) SNV
Germline		 Chr22:32091712 Pathogenic Congenital glucose-galactose malabsorption Criteria Provided
Single Submitter
 CA10198188 rs_200206252

1 SubmittersRCV000312958
NM_000343.4(SLC5A1):c.1725G>A (p.Ala575=) SNV
Germline		 Chr22:32104845 Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption Criteria Provided
Conflicting Classifications
 CA10198306 rs_368853644

2 SubmittersRCV000358722
NM_000343.4(SLC5A1):c.862T>G (p.Leu288Val) SNV
Germline		 Chr22:32084636 Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10198072 rs_139037092

4 SubmittersRCV000379428RCV002523215
NM_000343.4(SLC5A1):c.1556C>T (p.Thr519Met) SNV
Germline		 Chr22:32102128 Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10198257 rs_33975915

4 SubmittersRCV000272445RCV004021862
NM_000343.4(SLC5A1):c.208-13T>A SNV
Germline		 Chr22:32066922 Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption Criteria Provided
Conflicting Classifications
 CA10197893 rs_200261297

2 SubmittersRCV000334109
NM_000343.4(SLC5A1):c.1763T>C (p.Ile588Thr) SNV
Germline		 Chr22:32104883 Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption Criteria Provided
Conflicting Classifications
 CA10198317 rs_201862174

2 SubmittersRCV000266480
NM_000343.4(SLC5A1):c.1809G>A (p.Arg603=) SNV
Germline		 Chr22:32110027 Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption Criteria Provided
Conflicting Classifications
 CA10198343 rs_200228396

2 SubmittersRCV000371813
NM_000343.4(SLC5A1):c.624G>A (p.Thr208=) SNV
Germline		 Chr22:32083114 Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption Criteria Provided
Conflicting Classifications
 CA10198026 rs_144581584

2 SubmittersRCV000385193
NM_000343.4(SLC5A1):c.813G>A (p.Thr271=) SNV
Germline		 Chr22:32084587 Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption Criteria Provided
Conflicting Classifications
 CA10198070 rs_200849778

2 SubmittersRCV000322547
NM_000343.4(SLC5A1):c.1846G>A (p.Gly616Ser) SNV
Germline		 Chr22:32110064 Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10198352 rs_61733910

3 SubmittersRCV000375195RCV000436661
NM_000343.4(SLC5A1):c.35C>T (p.Ala12Val) SNV
Germline		 Chr22:32043316 Conflicting classifications of pathogenicity not specified
Congenital glucose-galactose malabsorption
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10197816 rs_150288967

4 SubmittersRCV000593428RCV001150307RCV003424166
NM_000343.4(SLC5A1):c.1370A>G (p.Gln457Arg) SNV
Germline		 Chr22:32099272 Pathogenic/Likely pathogenic Congenital glucose-galactose malabsorption
SLC5A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10198221 rs_200401846

2 SubmittersRCV000634562RCV003403455
NM_000343.4(SLC5A1):c.625G>T (p.Val209Leu) SNV
Germline		 Chr22:32083115 Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption
SLC5A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA10198027 rs_150117594

3 SubmittersRCV001146064RCV003960707
NM_000343.4(SLC5A1):c.799C>T (p.Arg267Ter) SNV
Germline		 Chr22:32084573 Pathogenic Congenital glucose-galactose malabsorption
SLC5A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10198066 rs_779502629

3 SubmittersRCV000990426RCV003411931
NM_000343.4(SLC5A1):c.1007G>A (p.Arg336His) SNV
Germline		 Chr22:32085021 Likely pathogenic Congenital glucose-galactose malabsorption Criteria Provided
Multiple Submitters
No Conflicts
 CA10198115 rs_774651252

2 SubmittersRCV000990427
NM_000343.4(SLC5A1):c.36G>A (p.Ala12=) SNV
Germline		 Chr22:32043317 Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption
SLC5A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA10197817 rs_148720069

3 SubmittersRCV001150308RCV003898146
NM_000343.4(SLC5A1):c.97G>A (p.Val33Ile) SNV
Germline		 Chr22:32043378 Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption Criteria Provided
Conflicting Classifications
 CA10197835 rs_33918436

2 SubmittersRCV001150310
NM_000343.4(SLC5A1):c.1128T>C (p.Asn376=) SNV
Germline		 Chr22:32086326 Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption Criteria Provided
Conflicting Classifications
 CA10198151 rs_201834537

3 SubmittersRCV001148860
NM_000343.4(SLC5A1):c.1314C>T (p.Ile438=) SNV
Germline		 Chr22:32099216 Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption Criteria Provided
Conflicting Classifications
 CA514277186 rs_1229387697

2 SubmittersRCV001150387
NM_000343.4(SLC5A1):c.1524C>T (p.Thr508=) SNV
Germline		 Chr22:32102096 Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption Criteria Provided
Conflicting Classifications
 CA10198253 rs_201895474

2 SubmittersRCV001150389
NM_000343.4(SLC5A1):c.1716C>T (p.Asp572=) SNV
Germline		 Chr22:32104836 Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption Criteria Provided
Conflicting Classifications
 CA514277441 rs_1475148938

2 SubmittersRCV001144293
NM_000343.4(SLC5A1):c.1280+8C>G SNV
Germline		 Chr22:32091770 Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption Criteria Provided
Conflicting Classifications
 CA10198200 rs_200130719

2 SubmittersRCV001150386
NM_000343.4(SLC5A1):c.187C>T (p.Arg63Ter) SNV
Germline		 Chr22:32049994 Pathogenic Congenital glucose-galactose malabsorption Criteria Provided
Multiple Submitters
No Conflicts
 CA10197873 rs_202166715

3 SubmittersRCV001250170
NM_000343.4(SLC5A1):c.765C>G (p.Cys255Trp) SNV
Germline		 Chr22:32084539 Pathogenic Congenital glucose-galactose malabsorption
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA323375641 rs_888909415

4 SubmittersRCV001283761RCV002225822
NM_000343.4(SLC5A1):c.1021+1G>A SNV
Germline		 Chr22:32085036 Likely pathogenic Congenital glucose-galactose malabsorption Criteria Provided
Single Submitter
 CA411306404 rs_2149492476

1 SubmittersRCV002028061
NM_000343.4(SLC5A1):c.609G>A (p.Thr203=) SNV
Germline		 Chr22:32083099 Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption
SLC5A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA10198021 rs_200276021

3 SubmittersRCV002041355RCV004752065
NM_000343.4(SLC5A1):c.1404G>A (p.Ala468=) SNV
Germline		 Chr22:32099306 Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption Criteria Provided
Conflicting Classifications
 CA10198226 rs_767459349

2 SubmittersRCV001919450
NM_000343.4(SLC5A1):c.1006C>T (p.Arg336Cys) SNV
Germline		 Chr22:32085020 Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption Criteria Provided
Conflicting Classifications
 CA10198114 rs_768831308

2 SubmittersRCV001888691
NM_000343.4(SLC5A1):c.875G>A (p.Cys292Tyr) SNV
Germline		 Chr22:32084649 Pathogenic Congenital glucose-galactose malabsorption Criteria Provided
Single Submitter
 CA10198074 rs_765502638

1 SubmittersRCV001918499
NM_000343.4(SLC5A1):c.1496G>C (p.Arg499Pro) SNV
Germline		 Chr22:32102068 Pathogenic Congenital glucose-galactose malabsorption Criteria Provided
Single Submitter
 CA323383477 rs_927157864

1 SubmittersRCV002246726
NM_000343.4(SLC5A1):c.1400T>C (p.Ile467Thr) SNV
Germline		 Chr22:32099302 Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption
SLC5A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA10198222 rs_199872460

3 SubmittersRCV002251014RCV003408184
NM_000343.4(SLC5A1):c.1496G>A (p.Arg499His) SNV
Germline		 Chr22:32102068 Likely pathogenic Congenital glucose-galactose malabsorption Criteria Provided
Single Submitter
 CA411313023 rs_927157864

1 SubmittersRCV003041411
NM_000343.4(SLC5A1):c.1431G>T (p.Trp477Cys) SNV
Germline		 Chr22:32099333 Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption Criteria Provided
Conflicting Classifications
 CA10198231 rs_200665892

2 SubmittersRCV002780699
NM_000343.4(SLC5A1):c.1388T>A (p.Leu463Ter) SNV
Germline		 Chr22:32099290 Pathogenic Congenital glucose-galactose malabsorption Criteria Provided
Single Submitter
 CA411311761 rs_2517673510

1 SubmittersRCV003028979
NM_000343.4(SLC5A1):c.475T>C (p.Ser159Pro) SNV
Germline		 Chr22:32068598 Likely pathogenic Congenital glucose-galactose malabsorption
SLC5A1-related disorder
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA323369022 rs_933026071

3 SubmittersRCV005030015RCV003414526RCV004820298
NM_000343.4(SLC5A1):c.200G>A (p.Trp67Ter) SNV
Germline		 Chr22:32050007 Likely pathogenic SLC5A1-related disorder
Congenital glucose-galactose malabsorption		 Criteria Provided
Multiple Submitters
No Conflicts
 CA411309351 rs_1203557575

2 SubmittersRCV003391669RCV005036786
NM_000343.4(SLC5A1):c.665-2A>G SNV
Germline		 Chr22:32084437 Likely pathogenic Congenital glucose-galactose malabsorption Criteria Provided
Single Submitter
 CA323375574 rs_200105615

1 SubmittersRCV003627678
NM_000343.4(SLC5A1):c.673G>T (p.Glu225Ter) SNV
Germline		 Chr22:32084447 Pathogenic Congenital glucose-galactose malabsorption Criteria Provided
Single Submitter
 CA411303135 rs_774829996

1 SubmittersRCV003627844
NM_000343.4(SLC5A1):c.1683G>A (p.Trp561Ter) SNV
Germline		 Chr22:32104803 Pathogenic Congenital glucose-galactose malabsorption Criteria Provided
Single Submitter
 CA411314542 rs_2517677261

1 SubmittersRCV003627993
NM_000343.4(SLC5A1):c.1191C>T (p.Ile397=) SNV
Germline		 Chr22:32091673 Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption Criteria Provided
Conflicting Classifications
 CA514276964 rs_1457860223

2 SubmittersRCV003626268
NM_000343.4(SLC5A1):c.947T>C (p.Leu316Pro) SNV
Germline		 Chr22:32084961 Likely pathogenic Congenital glucose-galactose malabsorption Criteria Provided
Single Submitter

1 SubmittersRCV005000543
NM_000343.4(SLC5A1):c.2T>C (p.Met1Thr) SNV
Germline		 Chr22:32043283 Likely pathogenic Congenital glucose-galactose malabsorption Criteria Provided
Single Submitter

1 SubmittersRCV005032793
NM_000343.4(SLC5A1):c.757G>T (p.Glu253Ter) SNV
Germline		 Chr22:32084531 Likely pathogenic Congenital glucose-galactose malabsorption Criteria Provided
Single Submitter

1 SubmittersRCV005029295
NM_000343.4(SLC5A1):c.866G>A (p.Trp289Ter) SNV
Germline		 Chr22:32084640 Pathogenic Congenital glucose-galactose malabsorption Criteria Provided
Single Submitter

1 SubmittersRCV005029297
NM_000343.4(SLC5A1):c.885+1G>A SNV
Germline		 Chr22:32084660 Likely pathogenic Congenital glucose-galactose malabsorption Criteria Provided
Single Submitter

1 SubmittersRCV005029298
NM_000343.4(SLC5A1):c.899G>A (p.Arg300His) SNV
Germline		 Chr22:32084913 Likely pathogenic Congenital glucose-galactose malabsorption Criteria Provided
Single Submitter

1 SubmittersRCV005029299
NM_000343.4(SLC5A1):c.1063T>A (p.Cys355Ser) SNV
Germline		 Chr22:32086261 Likely pathogenic Congenital glucose-galactose malabsorption Criteria Provided
Single Submitter

1 SubmittersRCV005029301
NM_000343.4(SLC5A1):c.1431G>A (p.Trp477Ter) SNV
Germline		 Chr22:32099333 Likely pathogenic Congenital glucose-galactose malabsorption Criteria Provided
Single Submitter

1 SubmittersRCV005029305
NM_000343.4(SLC5A1):c.1772-1G>A SNV
Germline		 Chr22:32109989 Likely pathogenic Congenital glucose-galactose malabsorption Criteria Provided
Single Submitter

1 SubmittersRCV005029310
NM_000343.4(SLC5A1):c.207+2T>C SNV
Germline		 Chr22:32050016 Likely pathogenic Congenital glucose-galactose malabsorption Criteria Provided
Single Submitter

1 SubmittersRCV005085604
NM_000343.4(SLC5A1):c.1151C>G (p.Ser384Ter) SNV
Germline		 Chr22:32091633 Pathogenic Congenital glucose-galactose malabsorption Criteria Provided
Single Submitter

1 SubmittersRCV005143349