Total 55 pathogenic variants reported for Brown-Vialetto-van Laere syndrome 2 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001363118.2(SLC52A2):c.916G>A (p.Gly306Arg) SNV
Germline		 Chr8:144360408 Pathogenic Brown-Vialetto-van Laere syndrome 2
Condition: not provided
Inborn genetic diseases
Mitochondrial disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342818 rs_398124641

10 SubmittersRCV000029145RCV000235263RCV002371782RCV005624709
NM_001363118.2(SLC52A2):c.368T>C (p.Leu123Pro) SNV
Germline		 Chr8:144359860 Pathogenic Brown-Vialetto-van Laere syndrome 2
SLC52A2-related disorder
Mitochondrial disease		 Criteria Provided
Single Submitter
 CA343790 rs_397514538

5 SubmittersRCV000032776RCV004755753RCV005624715
NM_001363118.2(SLC52A2):c.1016T>C (p.Leu339Pro) SNV
Germline		 Chr8:144360604 Pathogenic Brown-Vialetto-van Laere syndrome 2
Condition: not provided
Inborn genetic diseases
SLC52A2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA343794 rs_148234606

11 SubmittersRCV000032777RCV000236444RCV000624303RCV004755754
NM_001363118.2(SLC52A2):c.155C>T (p.Ser52Phe) SNV
Germline		 Chr8:144359647 Pathogenic Brown-Vialetto-van Laere syndrome 2
Condition: not provided		 Criteria Provided
Single Submitter
 CA343825 rs_397514657

3 SubmittersRCV000033238RCV000236548
NM_001363118.2(SLC52A2):c.851C>A (p.Ala284Asp) SNV
Germline		 Chr8:144360343 Pathogenic Brown-Vialetto-van Laere syndrome 2 No Assertion Criteria Provided
 CA345434 rs_398123067

2 SubmittersRCV000082864
NM_001363118.2(SLC52A2):c.914A>G (p.Tyr305Cys) SNV
Germline		 Chr8:144360406 Pathogenic Brown-Vialetto-van Laere syndrome 2 No Assertion Criteria Provided
 CA345438 rs_398123068

2 SubmittersRCV000082865
NM_001363118.2(SLC52A2):c.808C>T (p.Gln270Ter) SNV
Germline		 Chr8:144360300 Pathogenic Brown-Vialetto-van Laere syndrome 2
Condition: not provided
Brown-Vialetto-van Laere syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA198667 rs_375088539

4 SubmittersRCV000167765RCV000235507RCV002272152
NM_001363118.2(SLC52A2):c.383C>T (p.Ser128Leu) SNV
Germline		 Chr8:144359875 Pathogenic/Likely pathogenic Brown-Vialetto-van Laere syndrome 2
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA347010 rs_374071862

4 SubmittersRCV000191983RCV001266471RCV001778780
NM_001363118.2(SLC52A2):c.935T>C (p.Leu312Pro) SNV
Germline		 Chr8:144360427 Pathogenic/Likely pathogenic Brown-Vialetto-van Laere syndrome 2
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA347019 rs_754320812

6 SubmittersRCV000191986RCV000224069RCV000623325
NM_001363118.2(SLC52A2):c.1088C>T (p.Pro363Leu) SNV
Germline		 Chr8:144360676 Pathogenic/Likely pathogenic Brown-Vialetto-van Laere syndrome 2 Criteria Provided
Multiple Submitters
No Conflicts
 CA347022 rs_797045202

2 SubmittersRCV000191987
NM_001363118.2(SLC52A2):c.1258G>A (p.Ala420Thr) SNV
Germline		 Chr8:144360935 Pathogenic/Likely pathogenic Brown-Vialetto-van Laere syndrome 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA347025 rs_368924997

5 SubmittersRCV000191988RCV000237019
NM_001363118.2(SLC52A2):c.505C>T (p.Arg169Cys) SNV
Germline		 Chr8:144359997 Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA207764 rs_782345472

4 SubmittersRCV000193941RCV002336517RCV002280109
NM_001363118.2(SLC52A2):c.376T>G (p.Cys126Gly) SNV
Germline		 Chr8:144359868 Conflicting classifications of pathogenicity Condition: not provided
Brown-Vialetto-van Laere syndrome 2		 Criteria Provided
Conflicting Classifications
 CA4938178 rs_781903086

3 SubmittersRCV000236546RCV001233090
NM_001363118.2(SLC52A2):c.1122C>T (p.Leu374=) SNV
Germline		 Chr8:144360710 Conflicting classifications of pathogenicity not specified
Brown-Vialetto-van Laere syndrome 2
Condition: not provided
Inborn genetic diseases
SLC52A2-related disorder		 Criteria Provided
Conflicting Classifications
 CA4938381 rs_144290224

8 SubmittersRCV000432402RCV000542021RCV001280774RCV002436356RCV003970244
NM_001363118.2(SLC52A2):c.535G>A (p.Gly179Ser) SNV
Germline		 Chr8:144360027 Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4938212 rs_151081625

3 SubmittersRCV000534691RCV002350359
NM_001363118.2(SLC52A2):c.824G>A (p.Arg275His) SNV
Germline		 Chr8:144360316 Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2
Inborn genetic diseases
SLC52A2-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4938287 rs_144912258

4 SubmittersRCV000536224RCV002413617RCV004755964RCV004787894
NM_001363118.2(SLC52A2):c.1039G>A (p.Val347Met) SNV
Germline		 Chr8:144360627 Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2
not specified
Condition: not provided
Inborn genetic diseases
SLC52A2-related disorder		 Criteria Provided
Conflicting Classifications
 CA4938356 rs_145502954

10 SubmittersRCV000553303RCV001449687RCV001561011RCV002395455RCV003945299
NM_001363118.2(SLC52A2):c.1106C>T (p.Ser369Leu) SNV
Germline		 Chr8:144360694 Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4938375 rs_138160033

6 SubmittersRCV000650464RCV001700440RCV002440356
NM_001363118.2(SLC52A2):c.-110-1G>A SNV
Germline		 Chr8:144359183 Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA658821840 rs_1554853682

3 SubmittersRCV000664210RCV002225708
NM_001363118.2(SLC52A2):c.131-1G>C SNV
Germline		 Chr8:144359622 Likely pathogenic Brown-Vialetto-van Laere syndrome 2 Criteria Provided
Multiple Submitters
No Conflicts
 CA4938123 rs_782305211

2 SubmittersRCV000703629
NM_001363118.2(SLC52A2):c.679G>A (p.Gly227Arg) SNV
Germline		 Chr8:144360171 Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4938258 rs_781816242

2 SubmittersRCV000688333RCV005278633
NM_001363118.2(SLC52A2):c.751C>T (p.Gln251Ter) SNV
Germline		 Chr8:144360243 Pathogenic Brown-Vialetto-van Laere syndrome 2 Criteria Provided
Single Submitter
 CA372627820 rs_1312209529

1 SubmittersRCV000818266
NM_001363118.2(SLC52A2):c.922C>T (p.Leu308=) SNV
Germline		 Chr8:144360414 Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4938315 rs_782731667

2 SubmittersRCV002544963RCV005411609
NM_001363118.2(SLC52A2):c.1116G>C (p.Val372=) SNV
Germline		 Chr8:144360704 Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4938380 rs_200631895

2 SubmittersRCV001439519RCV005416435
NM_001363118.2(SLC52A2):c.245G>A (p.Arg82Gln) SNV
Germline		 Chr8:144359737 Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4938152 rs_377110942

2 SubmittersRCV001041764RCV005732253
NM_001363118.2(SLC52A2):c.1137G>A (p.Trp379Ter) SNV
Germline		 Chr8:144360814 Pathogenic Brown-Vialetto-van Laere syndrome 2 Criteria Provided
Single Submitter
 CA372629308 rs_782764685

1 SubmittersRCV001220456
NM_001363118.2(SLC52A2):c.1244G>C (p.Gly415Ala) SNV
Germline		 Chr8:144360921 Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4938445 rs_782245545

2 SubmittersRCV001232885RCV001577690
NM_001363118.2(SLC52A2):c.968T>C (p.Leu323Pro) SNV
Germline		 Chr8:144360460 Likely pathogenic Brown-Vialetto-van Laere syndrome 2 No Assertion Criteria Provided
 CA4938321 rs_781842708

1 SubmittersRCV001257945
NM_001363118.2(SLC52A2):c.973T>G (p.Cys325Gly) SNV
Germline		 Chr8:144360465 Likely pathogenic Sensorineural hearing loss disorder
Brown-Vialetto-van Laere syndrome 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA372628579 rs_1554854341

2 SubmittersRCV001353205RCV002510591
NM_001363118.2(SLC52A2):c.370G>T (p.Ala124Ser) SNV
Germline		 Chr8:144359862 Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4938175 rs_146274588

3 SubmittersRCV001370780RCV001751731RCV006377191
NM_001363118.2(SLC52A2):c.610C>A (p.Leu204Met) SNV
Germline		 Chr8:144360102 Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4938239 rs_369895693

3 SubmittersRCV001361749RCV004968121
NM_001363118.2(SLC52A2):c.593G>A (p.Trp198Ter) SNV
Germline		 Chr8:144360085 Pathogenic Brown-Vialetto-van Laere syndrome 2 Criteria Provided
Multiple Submitters
No Conflicts
 CA372627470 rs_1818749427

2 SubmittersRCV001383060
NM_001363118.2(SLC52A2):c.1300C>T (p.His434Tyr) SNV
Germline		 Chr8:144360977 Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4938464 rs_566858747

3 SubmittersRCV001514528RCV002384861
NM_001363118.2(SLC52A2):c.124C>G (p.Pro42Ala) SNV
Germline		 Chr8:144359417 Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2
Auditory neuropathy spectrum disorder		 No Assertion Criteria Provided
 CA372626002 rs_1175039425

2 SubmittersRCV001822965RCV003984862
NM_001363118.2(SLC52A2):c.973T>C (p.Cys325Arg) SNV
Germline		 Chr8:144360465 Likely pathogenic Brown-Vialetto-van Laere syndrome 2 Criteria Provided
Single Submitter
 CA372628576 rs_1554854341

1 SubmittersRCV001994370
NM_001363118.2(SLC52A2):c.518C>T (p.Pro173Leu) SNV
Germline		 Chr8:144360010 Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4938206 rs_782175326

2 SubmittersRCV003051278RCV006363015
NM_001363118.2(SLC52A2):c.940G>A (p.Val314Met) SNV
Germline		 Chr8:144360432 Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2 Criteria Provided
Conflicting Classifications
 CA372628429 rs_2489047024

2 SubmittersRCV003487096
NM_001363118.2(SLC52A2):c.916G>C (p.Gly306Arg) SNV
Germline		 Chr8:144360408 Pathogenic Brown-Vialetto-van Laere syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV006535610