Total 31 pathogenic variants reported for Orthostatic hypotension 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000787.4(DBH):c.339+2T>C SNV
Germline		 Chr9:133636712 Pathogenic Orthostatic hypotension 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA339912 rs_74853476

13 SubmittersRCV000001820RCV000486465
NM_000787.4(DBH):c.1033G>A (p.Asp345Asn) SNV
Germline		 Chr9:133647854 Conflicting classifications of pathogenicity Orthostatic hypotension 1 Criteria Provided
Conflicting Classifications
 CA347616 rs_267606761

3 SubmittersRCV000201811
NM_000787.4(DBH):c.407T>C (p.Val136Ala) SNV
Germline		 Chr9:133639913 Conflicting classifications of pathogenicity Orthostatic hypotension 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10626766 rs_886063657

3 SubmittersRCV000385719RCV004022110
NM_000787.4(DBH):c.1094T>C (p.Met365Thr) SNV
Germline		 Chr9:133647915 Conflicting classifications of pathogenicity Orthostatic hypotension 1 Criteria Provided
Conflicting Classifications
 CA5313313 rs_200103371

2 SubmittersRCV000340168
NM_000787.4(DBH):c.1173G>A (p.Thr391=) SNV
Germline		 Chr9:133647994 Conflicting classifications of pathogenicity Orthostatic hypotension 1 Criteria Provided
Conflicting Classifications
 CA5313341 rs_201689325

2 SubmittersRCV000286186
NM_000787.4(DBH):c.849C>T (p.Cys283=) SNV
Germline		 Chr9:133643517 Conflicting classifications of pathogenicity Orthostatic hypotension 1 Criteria Provided
Conflicting Classifications
 CA5313211 rs_78200745

2 SubmittersRCV000326872
NM_000787.4(DBH):c.921+8C>T SNV
Germline		 Chr9:133643597 Conflicting classifications of pathogenicity Orthostatic hypotension 1 Criteria Provided
Conflicting Classifications
 CA10629466 rs_886063659

2 SubmittersRCV000333318
NM_000787.4(DBH):c.1825G>A (p.Val609Ile) SNV
Germline		 Chr9:133658418 Conflicting classifications of pathogenicity Orthostatic hypotension 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA5313725 rs_141570582

3 SubmittersRCV000378583RCV002523755
NM_000787.4(DBH):c.1840G>A (p.Gly614Arg) SNV
Germline		 Chr9:133658433 Conflicting classifications of pathogenicity Orthostatic hypotension 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA5313730 rs_76316834

3 SubmittersRCV000343761RCV002524590
NM_000787.4(DBH):c.807C>T (p.Cys269=) SNV
Germline		 Chr9:133643475 Conflicting classifications of pathogenicity Orthostatic hypotension 1
DBH-related disorder		 Criteria Provided
Conflicting Classifications
 CA5313201 rs_141816448

3 SubmittersRCV000269423RCV003912569
NM_000787.4(DBH):c.1025-6T>A SNV
Germline		 Chr9:133647840 Conflicting classifications of pathogenicity Orthostatic hypotension 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5313288 rs_199926239

4 SubmittersRCV000374973RCV000437872
NM_000787.4(DBH):c.1599G>A (p.Ala533=) SNV
Germline		 Chr9:133657106 Conflicting classifications of pathogenicity Orthostatic hypotension 1
Condition: not provided
DBH-related disorder		 Criteria Provided
Conflicting Classifications
 CA5313625 rs_377563744

4 SubmittersRCV000263473RCV003884514RCV003972543
NM_000787.4(DBH):c.1788C>T (p.Cys596=) SNV
Germline		 Chr9:133658381 Conflicting classifications of pathogenicity Orthostatic hypotension 1 Criteria Provided
Conflicting Classifications
 CA5313713 rs_61729385

2 SubmittersRCV000324031
NM_000787.4(DBH):c.1444G>A (p.Gly482Arg) SNV
Germline		 Chr9:133656532 Conflicting classifications of pathogenicity Orthostatic hypotension 1
Condition: not provided
DBH-related disorder		 Criteria Provided
Conflicting Classifications
 CA5313546 rs_41316996

4 SubmittersRCV000635253RCV003151800RCV003905708
NM_000787.4(DBH):c.1215C>T (p.His405=) SNV
Germline		 Chr9:133651657 Conflicting classifications of pathogenicity Orthostatic hypotension 1
DBH-related disorder		 Criteria Provided
Conflicting Classifications
 rs_144219953

3 SubmittersRCV000966395RCV004757349
NM_000787.4(DBH):c.165G>A (p.Pro55=) SNV
Germline		 Chr9:133636536 Conflicting classifications of pathogenicity Orthostatic hypotension 1 Criteria Provided
Conflicting Classifications
 rs_139591190

2 SubmittersRCV001169430
NM_000787.4(DBH):c.354C>T (p.Asp118=) SNV
Germline		 Chr9:133639860 Conflicting classifications of pathogenicity Orthostatic hypotension 1 Criteria Provided
Conflicting Classifications
 rs_199898782

2 SubmittersRCV000886979
NM_000787.4(DBH):c.624C>T (p.Pro208=) SNV
Germline		 Chr9:133642344 Conflicting classifications of pathogenicity Orthostatic hypotension 1
DBH-related disorder		 Criteria Provided
Conflicting Classifications
 rs_75942058

3 SubmittersRCV001167014RCV003975549
NM_000787.4(DBH):c.291C>T (p.Asn97=) SNV
Germline		 Chr9:133636662 Conflicting classifications of pathogenicity Orthostatic hypotension 1 Criteria Provided
Conflicting Classifications
 rs_75734048

2 SubmittersRCV000927390
NM_000787.4(DBH):c.632C>T (p.Ala211Val) SNV
Germline		 Chr9:133642352 Conflicting classifications of pathogenicity Orthostatic hypotension 1
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_143535251

4 SubmittersRCV001038766RCV004693467RCV004973262
NM_000787.4(DBH):c.1772A>T (p.Glu591Val) SNV
Germline		 Chr9:133658365 Conflicting classifications of pathogenicity Orthostatic hypotension 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_75512464

3 SubmittersRCV001065337RCV003433009
NM_000787.4(DBH):c.1643A>G (p.Asn548Ser) SNV
Germline		 Chr9:133657150 Conflicting classifications of pathogenicity Orthostatic hypotension 1 Criteria Provided
Conflicting Classifications
 rs_151228388

2 SubmittersRCV001165538
NM_000787.4(DBH):c.1722+13G>T SNV
Germline		 Chr9:133657242 Conflicting classifications of pathogenicity Orthostatic hypotension 1 Criteria Provided
Conflicting Classifications
 rs_200197329

2 SubmittersRCV001165540
NM_000787.4(DBH):c.715A>T (p.Lys239Ter) SNV
Germline		 Chr9:133642435 Pathogenic Orthostatic hypotension 1 Criteria Provided
Single Submitter
 rs_766640976

1 SubmittersRCV002785699
NM_000787.4(DBH):c.757G>A (p.Val253Ile) SNV
Germline		 Chr9:133643425 Conflicting classifications of pathogenicity Orthostatic hypotension 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_527742213

2 SubmittersRCV001890222RCV002552271
NM_000787.4(DBH):c.1030A>C (p.Asn344His) SNV
Germline		 Chr9:133647851 Conflicting classifications of pathogenicity Orthostatic hypotension 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_1832200861

2 SubmittersRCV001914074RCV002560422
NM_000787.4(DBH):c.1002C>A (p.Tyr334Ter) SNV
Germline		 Chr9:133644298 Pathogenic Orthostatic hypotension 1 Criteria Provided
Single Submitter

1 SubmittersRCV002852500