Total 36 pathogenic variants reported for Brown-Vialetto-van Laere syndrome 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_033409.4(SLC52A3):c.211G>T (p.Glu71Ter) SNV
Germline		 Chr20:765564 Pathogenic Brown-Vialetto-van Laere syndrome 1 No Assertion Criteria Provided
 CA339792 rs_267606683

2 SubmittersRCV000000163
NM_033409.4(SLC52A3):c.670T>C (p.Phe224Leu) SNV
Germline		 Chr20:763901 Pathogenic Brown-Vialetto-van Laere syndrome 1 No Assertion Criteria Provided
 CA339795 rs_267606685

2 SubmittersRCV000000165
NM_033409.4(SLC52A3):c.106G>A (p.Glu36Lys) SNV
Germline		 Chr20:765669 Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 1
Condition: not provided
Progressive bulbar palsy of childhood		 Criteria Provided
Conflicting Classifications
 CA339796 rs_267606686

5 SubmittersRCV000000166RCV001560824RCV002247227
NM_033409.4(SLC52A3):c.82C>A (p.Pro28Thr) SNV
Germline		 Chr20:765693 Pathogenic Brown-Vialetto-van Laere syndrome 1 No Assertion Criteria Provided
 CA339798 rs_267606688

2 SubmittersRCV000000168
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_033409.4(SLC52A3):c.1198-2A>C SNV
Germline		 Chr20:761240 Pathogenic Progressive bulbar palsy of childhood
Brown-Vialetto-van Laere syndrome 1		 No Assertion Criteria Provided
 CA346993 rs_754753126

2 SubmittersRCV000024020RCV000191970
NM_033409.4(SLC52A3):c.935C>T (p.Ala312Val) SNV
Germline		 Chr20:763636 Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA346985 rs_752218005

3 SubmittersRCV000191966RCV004719742
NM_033409.4(SLC52A3):c.639C>G (p.Tyr213Ter) SNV
Germline		 Chr20:763932 Pathogenic Brown-Vialetto-van Laere syndrome 1
Progressive bulbar palsy of childhood
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA346979 rs_778363575

8 SubmittersRCV000191963RCV002247619RCV002354538RCV003313053
NM_033409.4(SLC52A3):c.634C>T (p.Arg212Cys) SNV
Germline		 Chr20:763937 Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 1
not specified		 Criteria Provided
Conflicting Classifications
 CA347001 rs_778479139

2 SubmittersRCV000191977RCV001195405
NM_033409.4(SLC52A3):c.374C>A (p.Thr125Asn) SNV
Germline		 Chr20:765401 Conflicting classifications of pathogenicity Condition: not provided
Brown-Vialetto-van Laere syndrome 1
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 rs_767263985

4 SubmittersRCV001823390RCV001869811RCV002542728RCV004690141
NM_033409.4(SLC52A3):c.211G>A (p.Glu71Lys) SNV
Germline		 Chr20:765564 Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 1 Criteria Provided
Conflicting Classifications
 CA346975 rs_267606683

3 SubmittersRCV000191960
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser) SNV
Germline		 Chr20:765713 Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 1
not specified
Condition: not provided
Inborn genetic diseases
SLC52A3-related disorder		 Criteria Provided
Conflicting Classifications
 CA346969 rs_199588390

10 SubmittersRCV000191957RCV000790977RCV001589066RCV002362997RCV003417696
NM_033409.4(SLC52A3):c.49T>C (p.Trp17Arg) SNV
Germline		 Chr20:765726 Pathogenic Brown-Vialetto-van Laere syndrome 1 No Assertion Criteria Provided
 CA346967 rs_797045190

2 SubmittersRCV000191956
NM_033409.4(SLC52A3):c.395G>A (p.Arg132Gln) SNV
Germline		 Chr20:765380 Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 1
not specified
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA9724788 rs_142157418

4 SubmittersRCV000557473RCV000825236RCV001540821RCV002377169
NM_033409.4(SLC52A3):c.194G>A (p.Arg65Gln) SNV
Germline		 Chr20:765581 Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 1
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9724820 rs_144337813

3 SubmittersRCV000559040RCV002420525RCV003139858
NM_033409.4(SLC52A3):c.1316G>A (p.Gly439Asp) SNV
Germline		 Chr20:761120 Likely pathogenic Brown-Vialetto-van Laere syndrome 1 Criteria Provided
Single Submitter
 CA407961889 rs_1555783467

1 SubmittersRCV000578156
NM_033409.4(SLC52A3):c.1156T>C (p.Cys386Arg) SNV
Germline		 Chr20:761742 Conflicting classifications of pathogenicity Inborn genetic diseases
Brown-Vialetto-van Laere syndrome 1		 Criteria Provided
Conflicting Classifications
 CA407962325 rs_1555783543

2 SubmittersRCV000622896RCV001868146
NM_033409.4(SLC52A3):c.787C>T (p.His263Tyr) SNV
Germline		 Chr20:763784 Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 1
Inborn genetic diseases
Brown-Vialetto-van Laere syndrome 1
Progressive bulbar palsy of childhood
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_150159842

4 SubmittersRCV000703005RCV002406635RCV002499264RCV003432746
NM_033409.4(SLC52A3):c.802C>T (p.Arg268Trp) SNV
Germline		 Chr20:763769 Conflicting classifications of pathogenicity Madras motor neuron disease
Brown-Vialetto-van Laere syndrome 1
Inborn genetic diseases
Auditory neuropathy		 Criteria Provided
Conflicting Classifications
 rs_145498634

4 SubmittersRCV001095540RCV001203115RCV002411628RCV003483781
NM_033409.4(SLC52A3):c.951G>A (p.Met317Ile) SNV
Germline		 Chr20:763620 Conflicting classifications of pathogenicity not specified
Inborn genetic diseases
Brown-Vialetto-van Laere syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_1027231153

3 SubmittersRCV001195346RCV002561032RCV001859176
NM_033409.4(SLC52A3):c.550G>T (p.Glu184Ter) SNV
Germline		 Chr20:765225 Pathogenic Brown-Vialetto-van Laere syndrome 1
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_890871342

2 SubmittersRCV001383229RCV002350729
NM_033409.4(SLC52A3):c.1027G>A (p.Val343Met) SNV
Germline		 Chr20:763544 Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_758815341

2 SubmittersRCV001974084RCV002386849
NM_033409.4(SLC52A3):c.775C>T (p.Gln259Ter) SNV
Germline		 Chr20:763796 Pathogenic Inborn genetic diseases
Brown-Vialetto-van Laere syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002409704RCV003598113
NM_033409.4(SLC52A3):c.408C>G (p.Tyr136Ter) SNV
Germline		 Chr20:765367 Pathogenic Brown-Vialetto-van Laere syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV003069121
NM_033409.4(SLC52A3):c.374C>T (p.Thr125Ile) SNV
Germline		 Chr20:765401 Likely pathogenic Brown-Vialetto-van Laere syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV003334445
NM_033409.4(SLC52A3):c.293G>A (p.Trp98Ter) SNV
Germline		 Chr20:765482 Pathogenic Brown-Vialetto-van Laere syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV003598301
NM_033409.4(SLC52A3):c.51G>A (p.Trp17Ter) SNV
Germline		 Chr20:765724 Pathogenic Brown-Vialetto-van Laere syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV003599066
NM_033409.4(SLC52A3):c.853C>T (p.Gln285Ter) SNV
Germline		 Chr20:763718 Pathogenic Brown-Vialetto-van Laere syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV003598857