DBH — 537 ClinVar variants

All ClinVar germline DBH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 221 flagged for review →

8 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 26 Conflicting · 64 Benign · 9 Benign/Likely benign · 169 Likely benign · 259 Uncertain significance

Full DBH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 221

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 11

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

DBH p.Ala211Val Conflicting Single submitter
Inborn genetic diseases
DBH p.Asn344His Conflicting Single submitter
Inborn genetic diseases
DBH p.Asn548Ser Conflicting Single submitter
orthostatic hypotension 1
DBH p.Asp345Asn Conflicting Single submitter
orthostatic hypotension 1
DBH p.Glu591Val Conflicting Single submitter
orthostatic hypotension 1
DBH p.Gly185Ser Conflicting Single submitter
Inborn genetic diseases
DBH p.Gly614Arg Conflicting Single submitter
orthostatic hypotension 1
DBH p.Met365Thr Conflicting Single submitter
orthostatic hypotension 1
DBH p.Val136Ala Conflicting Single submitter
orthostatic hypotension 1
DBH p.Val253Ile Conflicting Single submitter
Inborn genetic diseases
DBH p.Val609Ile Conflicting Single submitter
orthostatic hypotension 1

Predictors lean, ClinVar uncertain 111

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

DBH p.Ala113Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DBH p.Ala259Val Uncertain significance Multiple submitters
orthostatic hypotension 1
DBH p.Ala506Thr Uncertain significance Multiple submitters
orthostatic hypotension 1
DBH p.Arg380Gln Uncertain significance Multiple submitters
orthostatic hypotension 1
DBH p.Arg429Gln Uncertain significance Multiple submitters
orthostatic hypotension 1
DBH p.Arg549His Uncertain significance Multiple submitters
orthostatic hypotension 1
DBH p.Arg549Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DBH p.Arg572His Uncertain significance Multiple submitters
Inborn genetic diseases
DBH p.Arg6His Uncertain significance Multiple submitters
Inborn genetic diseases
DBH p.Arg6Ser Uncertain significance Multiple submitters
orthostatic hypotension 1
DBH p.Asp91Asn Uncertain significance Multiple submitters
Inborn genetic diseases
DBH p.Gly316Ser Uncertain significance Multiple submitters
orthostatic hypotension 1
DBH p.Gly320Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DBH p.Ile612Thr Uncertain significance Multiple submitters
orthostatic hypotension 1
DBH p.Leu328Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DBH p.Leu484Pro Uncertain significance Multiple submitters
orthostatic hypotension 1
DBH p.Pro140Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DBH p.Pro378Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DBH p.Tyr311Cys Uncertain significance Multiple submitters
orthostatic hypotension 1
DBH p.Val298Met Uncertain significance Multiple submitters
orthostatic hypotension 1
DBH p.Val434Met Uncertain significance Multiple submitters
orthostatic hypotension 1
DBH p.Ala113Val Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Ala115Thr Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Ala218Val Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Ala270Thr Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Ala355Gly Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Ala36Ser Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Ala36Thr Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Ala383Thr Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Ala3Ser Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Ala605Thr Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Arg178Trp Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Arg291Cys Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Arg291Ser Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Arg296His Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Arg572Cys Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Arg602Gln Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Arg92His Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Asn220Ser Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Asn578Thr Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Asn97Ser Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Asp114Glu Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Asp155Gly Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Asp460Gly Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Asp460Val Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Asp472Gly Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Asp526Asn Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Asp550Asn Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Cys154Tyr Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Cys394Arg Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Cys466Arg Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Gln132Glu Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Gln75Pro Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Glu174Lys Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Glu204Lys Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Glu381Gln Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Glu44Lys Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Glu525Lys Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Glu94Lys Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Gly152Val Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Gly240Ser Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Gly305Asp Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Gly323Glu Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Gly388Asp Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Gly428Ser Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Gly510Ser Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Gly575Val Uncertain significance Single submitter
Inborn genetic diseases
DBH p.His263Arg Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.His278Tyr Uncertain significance Single submitter
Inborn genetic diseases
DBH p.His333Arg Uncertain significance Single submitter
Inborn genetic diseases
DBH p.His73Tyr Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Ile246Thr Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Ile340Thr Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Ile51Met Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Leu100Pro Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Leu192Pro Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Leu330Pro Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Leu424Val Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Leu86Gln Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Lys356Glu Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Lys393Glu Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Lys82Arg Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Lys82Glu Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Met21Arg Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Met21Thr Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Met21Val Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Met273Thr Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Met449Thr Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Phe241Val Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Phe407Leu Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Phe74Tyr Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Pro127Leu Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Pro496Ser Uncertain significance Single submitter
sensorineural hearing loss disorder
DBH p.Pro543Ser Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Pro604Ser Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Ser441Thr Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Ser455Leu Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Ser465Thr Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Ser611Thr Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Thr105Asn Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Thr213Ile Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Thr213Ser Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Thr229Lys Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Thr593Ile Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Tyr389Asp Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Tyr49Phe Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Val136Leu Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Val276Ile Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Val454Leu Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Val542Ile Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Val551Ile Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 99

The independent predictors disagree with each other — read with care.

DBH p.Ala362Val Likely benign Multiple submitters
orthostatic hypotension 1
DBH p.Ala383Val Uncertain significance Multiple submitters
Inborn genetic diseases
DBH p.Arg243Gln Uncertain significance Multiple submitters
orthostatic hypotension 1
DBH p.Arg343Gln Uncertain significance Multiple submitters
orthostatic hypotension 1
DBH p.Arg380Trp Uncertain significance Multiple submitters
orthostatic hypotension 1
DBH p.Arg43His Uncertain significance Multiple submitters
Inborn genetic diseases
DBH p.Arg448His Uncertain significance Multiple submitters
orthostatic hypotension 1
DBH p.Arg473Gln Uncertain significance Multiple submitters
Inborn genetic diseases
DBH p.Arg473Trp Uncertain significance Multiple submitters
orthostatic hypotension 1
DBH p.Arg549Cys Benign Multiple submitters
orthostatic hypotension 1
DBH p.Arg79Gln Uncertain significance Multiple submitters
orthostatic hypotension 1
DBH p.Arg79Trp Benign/Likely benign Multiple submitters
orthostatic hypotension 1
DBH p.Arg92Cys Uncertain significance Multiple submitters
Inborn genetic diseases
DBH p.Asp290Asn Benign Multiple submitters
orthostatic hypotension 1
DBH p.Glu272Lys Uncertain significance Multiple submitters
Inborn genetic diseases
DBH p.Gly164Ser Uncertain significance Multiple submitters
orthostatic hypotension 1
DBH p.His443Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DBH p.Ile246Val Uncertain significance Multiple submitters
orthostatic hypotension 1
DBH p.Ile519Thr Uncertain significance Multiple submitters
orthostatic hypotension 1
DBH p.Lys157Thr Uncertain significance Multiple submitters
Inborn genetic diseases
DBH p.Lys239Asn Uncertain significance Multiple submitters
Inborn genetic diseases
DBH p.Met563Thr Uncertain significance Multiple submitters
orthostatic hypotension 1
DBH p.Phe87Leu Uncertain significance Multiple submitters
orthostatic hypotension 1
DBH p.Pro400Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DBH p.Pro607Ser Benign Multiple submitters
orthostatic hypotension 1
DBH p.Ser186Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DBH p.Thr229Met Uncertain significance Multiple submitters
Inborn genetic diseases
DBH p.Thr372Met Uncertain significance Multiple submitters
Inborn genetic diseases
DBH p.Thr391Lys Uncertain significance Multiple submitters
Inborn genetic diseases
DBH p.Thr498Met Uncertain significance Multiple submitters
orthostatic hypotension 1
DBH p.Tyr334Phe Uncertain significance Multiple submitters
Inborn genetic diseases
DBH p.Val195Met Uncertain significance Multiple submitters
Inborn genetic diseases
DBH p.Val26Met Benign/Likely benign Multiple submitters
orthostatic hypotension 1
DBH p.Val453Phe Uncertain significance Multiple submitters
Inborn genetic diseases
DBH p.Val454Met Uncertain significance Multiple submitters
orthostatic hypotension 1
DBH p.Val585Gly Likely benign Multiple submitters
Inborn genetic diseases
DBH p.Val85Ile Uncertain significance Multiple submitters
orthostatic hypotension 1
DBH p.Ala308Val Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Ala362Thr Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Ala559Val Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Arg16Gln Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Arg329His Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Arg350Cys Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Arg358Gln Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Arg359Cys Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Arg359His Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Arg429Trp Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Asn438Ser Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Asp106Ala Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Asp106Asn Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Asp108Tyr Likely benign Single submitter
orthostatic hypotension 1
DBH p.Asp155Asn Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Asp210Glu Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Asp392Asn Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Gln193His Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Gln537Pro Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Gln580Glu Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Glu258Lys Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Glu485Lys Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Glu70Gly Likely benign Single submitter
orthostatic hypotension 1
DBH p.Gly164Asp Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Gly171Arg Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Gly191Arg Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Gly323Val Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Gly459Arg Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Gly482Arg Conflicting Single submitter
orthostatic hypotension 1
DBH p.Ile252Met Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Leu198Gln Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Leu317Phe Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Leu4Phe Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Leu500Val Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Lys419Asn Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Lys452Asn Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Lys504Arg Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Met264Ile Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Met264Leu Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Phe309Leu Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Phe516Leu Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Pro156Leu Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Pro176Leu Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Pro205Leu Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Pro224Leu Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Pro458Leu Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Pro531Arg Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Ser275Gly Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Ser402Cys Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Ser611Gly Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Ser9Asn Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Thr109Ile Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Thr391Arg Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Thr391Met Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Thr467Lys Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Thr498Arg Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Tyr352Cys Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Tyr49Cys Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Val101Met Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Val195Leu Uncertain significance Single submitter
orthostatic hypotension 1
DBH p.Val492Met Uncertain significance Single submitter
Inborn genetic diseases
DBH p.Val535Met Uncertain significance Single submitter
Inborn genetic diseases

All DBH variants

Pathogenic 8

c.339+2T>C Multiple submitters orthostatic hypotension 1
p.Gln128Ter Single submitter Inborn genetic diseases
p.Gln75Ter Single submitter orthostatic hypotension 1
p.Gly316fs Single submitter orthostatic hypotension 1
p.Lys157fs Single submitter orthostatic hypotension 1
p.Lys239Ter Single submitter orthostatic hypotension 1
p.Thr413_His414insTer Single submitter orthostatic hypotension 1
p.Tyr334Ter Single submitter orthostatic hypotension 1

Pathogenic/Likely pathogenic 1

p.Leu500fs Multiple submitters orthostatic hypotension 1

Likely pathogenic 1

c.1192-1G>A Single submitter orthostatic hypotension 1

Conflicting classifications of pathogenicity 26

c.1025-6T>A Single submitter orthostatic hypotension 1
c.1722+13G>T Single submitter orthostatic hypotension 1
c.921+8C>T Single submitter orthostatic hypotension 1
p.Ala211Val Single submitter Inborn genetic diseases ⚠
p.Ala533= Single submitter orthostatic hypotension 1
p.Asn344His Single submitter Inborn genetic diseases ⚠
p.Asn548Ser Single submitter orthostatic hypotension 1 ⚠
p.Asn97= Single submitter orthostatic hypotension 1
p.Asp118= Single submitter orthostatic hypotension 1
p.Asp345Asn Single submitter orthostatic hypotension 1 ⚠
p.Cys269= Single submitter orthostatic hypotension 1
p.Cys283= Single submitter orthostatic hypotension 1
p.Cys596= Single submitter orthostatic hypotension 1
p.Glu591Val Single submitter orthostatic hypotension 1 ⚠
p.Gly185Ser Single submitter Inborn genetic diseases ⚠
p.Gly482Arg Single submitter orthostatic hypotension 1 ⚠
p.Gly614Arg Single submitter orthostatic hypotension 1 ⚠
p.His405= Single submitter orthostatic hypotension 1
p.Met365Thr Single submitter orthostatic hypotension 1 ⚠
p.Pro208= Single submitter orthostatic hypotension 1
p.Pro55= Single submitter orthostatic hypotension 1
p.Ser455= Single submitter orthostatic hypotension 1
p.Thr391= Single submitter orthostatic hypotension 1
p.Val136Ala Single submitter orthostatic hypotension 1 ⚠
p.Val253Ile Single submitter Inborn genetic diseases ⚠
p.Val609Ile Single submitter orthostatic hypotension 1 ⚠

Benign 64

c.1024+146C>T Multiple submitters
c.1024+6C>G Multiple submitters orthostatic hypotension 1
c.1024+72G>A Multiple submitters
c.1024+9C>T Multiple submitters orthostatic hypotension 1
c.1025-62G>A Multiple submitters
c.1191+49T>C Multiple submitters
c.1191+69C>G Multiple submitters
c.1335+110T>C Multiple submitters
c.1335+13A>G Multiple submitters orthostatic hypotension 1
c.1335+223G>A Multiple submitters
c.1336-217C>G Multiple submitters
c.1336-219A>G Multiple submitters
c.1336-222A>C Multiple submitters
c.1375-54G>A Multiple submitters
c.1375-80G>A Multiple submitters
c.1435-48C>T Multiple submitters
c.1435-85T>C Multiple submitters
c.1563-5A>G Multiple submitters orthostatic hypotension 1
c.1722+4C>T Multiple submitters orthostatic hypotension 1
c.1722+75T>C Multiple submitters
c.339+109G>C Multiple submitters
c.340-45C>T Multiple submitters
c.486+127A>G Multiple submitters
c.486+13C>T Multiple submitters orthostatic hypotension 1
c.487-28G>A Multiple submitters
c.744+50C>T Multiple submitters
c.744+8C>T Multiple submitters orthostatic hypotension 1
c.921+53C>T Multiple submitters
c.922-28C>T Multiple submitters orthostatic hypotension 1
c.922-65G>T Multiple submitters
c.*100C>T Multiple submitters orthostatic hypotension 1
c.*278T>C Multiple submitters orthostatic hypotension 1
c.*390G>A Multiple submitters orthostatic hypotension 1
c.*837T>G Multiple submitters orthostatic hypotension 1
p.Ala211Thr Multiple submitters orthostatic hypotension 1
p.Ala318Ser Multiple submitters orthostatic hypotension 1
p.Arg178Gln Multiple submitters orthostatic hypotension 1
p.Arg549Cys Multiple submitters orthostatic hypotension 1 ⚠
p.Asn201Ser Multiple submitters orthostatic hypotension 1
p.Asn578= Multiple submitters orthostatic hypotension 1
p.Asp290Asn Multiple submitters orthostatic hypotension 1 ⚠
p.Glu162= Multiple submitters orthostatic hypotension 1
p.His245= Multiple submitters orthostatic hypotension 1
p.Pro607Ser Multiple submitters orthostatic hypotension 1 ⚠
p.Ser402= Multiple submitters orthostatic hypotension 1
p.Thr105= Multiple submitters orthostatic hypotension 1
p.Thr470= Multiple submitters orthostatic hypotension 1
c.1024+179C>T Single submitter
c.1024+192T>C Single submitter
c.1024+237C>G Single submitter
c.1192-181G>A Single submitter
c.1192-186C>A Single submitter
c.1335+164GGTGTCT[3] Single submitter
c.1374+16del Single submitter orthostatic hypotension 1
c.1722+180GAGAGAGGA[4] Single submitter
c.1722+202dup Single submitter
c.1722+204_1722+205insA Single submitter
c.1722+207_1722+209dup Single submitter
c.744+156A>G Single submitter
c.921+189T>G Single submitter
c.*58G>A Single submitter orthostatic hypotension 1
c.*840C>T Single submitter orthostatic hypotension 1
p.Asn184= Single submitter orthostatic hypotension 1
p.Gln513= Single submitter orthostatic hypotension 1

Benign/Likely benign 9

p.Ala35= Multiple submitters orthostatic hypotension 1
p.Arg79Trp Multiple submitters orthostatic hypotension 1 ⚠
p.Asn524= Multiple submitters orthostatic hypotension 1
p.Asp284Asn Multiple submitters orthostatic hypotension 1
p.Leu579= Multiple submitters orthostatic hypotension 1
p.Phe407= Multiple submitters orthostatic hypotension 1
p.Tyr249= Multiple submitters orthostatic hypotension 1
p.Tyr311= Multiple submitters orthostatic hypotension 1
p.Val26Met Multiple submitters orthostatic hypotension 1 ⚠

Likely benign 169

c.1562+8C>G Multiple submitters orthostatic hypotension 1
c.*89A>G Multiple submitters orthostatic hypotension 1
p.Ala362Val Multiple submitters orthostatic hypotension 1 ⚠
p.Ala509= Multiple submitters orthostatic hypotension 1
p.Ala559= Multiple submitters orthostatic hypotension 1
p.Asp508= Multiple submitters orthostatic hypotension 1
p.Gly88Ala Multiple submitters orthostatic hypotension 1
p.Ser40= Multiple submitters orthostatic hypotension 1
p.Val585Gly Multiple submitters Inborn genetic diseases ⚠
c.1024+19A>G Single submitter orthostatic hypotension 1
c.1024+25_1024+27del Single submitter orthostatic hypotension 1
c.1025-15C>T Single submitter orthostatic hypotension 1
c.1025-4C>T Single submitter orthostatic hypotension 1
c.1191+10G>A Single submitter orthostatic hypotension 1
c.1191+16C>G Single submitter orthostatic hypotension 1
c.1191+18C>T Single submitter orthostatic hypotension 1
c.1191+19G>A Single submitter orthostatic hypotension 1
c.1191+24_1191+28dup Single submitter orthostatic hypotension 1
c.1192-10G>A Single submitter orthostatic hypotension 1
c.1192-16C>T Single submitter orthostatic hypotension 1
c.1192-6C>T Single submitter orthostatic hypotension 1
c.1335+11G>A Single submitter orthostatic hypotension 1
c.1335+12C>T Single submitter orthostatic hypotension 1
c.1335+16C>T Single submitter orthostatic hypotension 1
c.1335+17C>G Single submitter orthostatic hypotension 1
c.1335+9C>T Single submitter orthostatic hypotension 1
c.1336-11G>T Single submitter orthostatic hypotension 1
c.1336-18C>T Single submitter orthostatic hypotension 1
c.1336-4C>G Single submitter orthostatic hypotension 1
c.1336-7G>C Single submitter orthostatic hypotension 1
c.1374+14G>A Single submitter orthostatic hypotension 1
c.1375-15T>C Single submitter orthostatic hypotension 1
c.1375-17C>T Single submitter orthostatic hypotension 1
c.1375-19C>A Single submitter orthostatic hypotension 1
c.1375-8T>C Single submitter orthostatic hypotension 1
c.1434+10C>A Single submitter orthostatic hypotension 1
c.1434+14G>A Single submitter orthostatic hypotension 1
c.1435-14C>T Single submitter orthostatic hypotension 1
c.1435-18G>A Single submitter orthostatic hypotension 1
c.1435-19G>T Single submitter orthostatic hypotension 1
c.1435-20G>A Single submitter orthostatic hypotension 1
c.1435-20G>C Single submitter orthostatic hypotension 1
c.1562+16_1562+28del Single submitter orthostatic hypotension 1
c.1562+20G>C Single submitter orthostatic hypotension 1
c.1563-18G>A Single submitter orthostatic hypotension 1
c.1563-6dup Single submitter orthostatic hypotension 1
c.1722+11A>G Single submitter orthostatic hypotension 1
c.1722+14G>A Single submitter orthostatic hypotension 1
c.1722+15G>C Single submitter orthostatic hypotension 1
c.1722+18C>T Single submitter orthostatic hypotension 1
c.1722+19G>A Single submitter orthostatic hypotension 1
c.1723-12C>A Single submitter orthostatic hypotension 1
c.1723-18C>T Single submitter orthostatic hypotension 1
c.1723-5dup Single submitter
c.339+7C>A Single submitter orthostatic hypotension 1
c.340-14G>A Single submitter orthostatic hypotension 1
c.340-18C>A Single submitter orthostatic hypotension 1
c.486+14G>A Single submitter orthostatic hypotension 1
c.486+16G>A Single submitter orthostatic hypotension 1
c.487-8G>T Single submitter orthostatic hypotension 1
c.487-9C>T Single submitter orthostatic hypotension 1
c.745-14C>T Single submitter orthostatic hypotension 1
c.921+13C>T Single submitter orthostatic hypotension 1
c.921+14G>A Single submitter orthostatic hypotension 1
c.921+16C>G Single submitter orthostatic hypotension 1
c.921+7G>A Single submitter orthostatic hypotension 1
c.922-18A>C Single submitter orthostatic hypotension 1
c.922-7C>T Single submitter orthostatic hypotension 1
c.*394C>T Single submitter orthostatic hypotension 1
c.*844C>T Single submitter orthostatic hypotension 1
p.Ala211= Single submitter orthostatic hypotension 1
p.Ala259= Single submitter orthostatic hypotension 1
p.Ala301Thr Single submitter orthostatic hypotension 1
p.Ala315= Single submitter orthostatic hypotension 1
p.Ala362= Single submitter orthostatic hypotension 1
p.Ala383= Single submitter orthostatic hypotension 1
p.Ala554= Single submitter orthostatic hypotension 1
p.Ala570= Single submitter orthostatic hypotension 1
p.Ala605= Single submitter
p.Arg178= Single submitter orthostatic hypotension 1
p.Arg296= Single submitter orthostatic hypotension 1
p.Arg329Cys Single submitter orthostatic hypotension 1
p.Arg426= Single submitter orthostatic hypotension 1
p.Arg473= Single submitter orthostatic hypotension 1
p.Arg549= Single submitter orthostatic hypotension 1
p.Arg79= Single submitter orthostatic hypotension 1
p.Asn344= Single submitter orthostatic hypotension 1
p.Asn361= Single submitter orthostatic hypotension 1
p.Asp108Tyr Single submitter orthostatic hypotension 1 ⚠
p.Asp114= Single submitter orthostatic hypotension 1
p.Asp163= Single submitter orthostatic hypotension 1
p.Asp210= Single submitter orthostatic hypotension 1
p.Asp508Asn Single submitter Inborn genetic diseases
p.Cys154= Single submitter orthostatic hypotension 1
p.Cys488= Single submitter orthostatic hypotension 1
p.Gln135Arg Single submitter Inborn genetic diseases
p.Gln538= Single submitter orthostatic hypotension 1
p.Gln595Arg Single submitter Inborn genetic diseases
p.Glu591= Single submitter orthostatic hypotension 1
p.Glu70Gly Single submitter orthostatic hypotension 1 ⚠
p.Gly191= Single submitter orthostatic hypotension 1
p.Gly388= Single submitter orthostatic hypotension 1
p.Gly93= Single submitter orthostatic hypotension 1
p.His263= Single submitter orthostatic hypotension 1
p.His414= Single submitter orthostatic hypotension 1
p.Ile202= Single submitter orthostatic hypotension 1
p.Ile221= Single submitter orthostatic hypotension 1
p.Ile433= Single submitter orthostatic hypotension 1
p.Ile586= Single submitter orthostatic hypotension 1
p.Leu100= Single submitter orthostatic hypotension 1
p.Leu143= Single submitter orthostatic hypotension 1
p.Leu30= Single submitter orthostatic hypotension 1
p.Leu552= Single submitter
p.Leu555= Single submitter orthostatic hypotension 1
p.Leu589= Single submitter orthostatic hypotension 1
p.Leu61= Single submitter orthostatic hypotension 1
p.Leu76= Single submitter orthostatic hypotension 1
p.Leu77= Single submitter orthostatic hypotension 1
p.Leu86= Single submitter orthostatic hypotension 1
p.Lys514Arg Single submitter orthostatic hypotension 1
p.Lys567= Single submitter orthostatic hypotension 1
p.Phe29= Single submitter orthostatic hypotension 1
p.Phe309= Single submitter orthostatic hypotension 1
p.Phe319= Single submitter orthostatic hypotension 1
p.Phe384= Single submitter orthostatic hypotension 1
p.Phe481= Single submitter orthostatic hypotension 1
p.Pro11= Single submitter orthostatic hypotension 1
p.Pro127= Single submitter orthostatic hypotension 1
p.Pro150= Single submitter orthostatic hypotension 1
p.Pro156= Single submitter orthostatic hypotension 1
p.Pro176= Single submitter orthostatic hypotension 1
p.Pro2= Single submitter orthostatic hypotension 1
p.Pro203= Single submitter orthostatic hypotension 1
p.Pro205= Single submitter orthostatic hypotension 1
p.Pro271= Single submitter orthostatic hypotension 1
p.Pro282= Single submitter orthostatic hypotension 1
p.Pro46= Single submitter orthostatic hypotension 1
p.Pro597= Single submitter
p.Ser186= Single submitter orthostatic hypotension 1
p.Ser242= Single submitter orthostatic hypotension 1
p.Ser275= Single submitter orthostatic hypotension 1
p.Ser280= Single submitter orthostatic hypotension 1
p.Ser346= Single submitter orthostatic hypotension 1
p.Ser409= Single submitter orthostatic hypotension 1
p.Ser505= Single submitter orthostatic hypotension 1
p.Ser534= Single submitter orthostatic hypotension 1
p.Ser557= Single submitter orthostatic hypotension 1
p.Ser611Asn Single submitter Inborn genetic diseases
p.Ser62= Single submitter orthostatic hypotension 1
p.Ser90= Single submitter orthostatic hypotension 1
p.Thr139= Single submitter orthostatic hypotension 1
p.Thr372= Single submitter orthostatic hypotension 1
p.Thr382= Single submitter orthostatic hypotension 1
p.Thr422= Single submitter orthostatic hypotension 1
p.Thr467= Single submitter orthostatic hypotension 1
p.Thr498= Single submitter orthostatic hypotension 1
p.Thr598= Single submitter orthostatic hypotension 1
p.Thr608= Single submitter orthostatic hypotension 1
p.Thr68= Single submitter orthostatic hypotension 1
p.Tyr111= Single submitter orthostatic hypotension 1
p.Tyr22= Single submitter orthostatic hypotension 1
p.Tyr327= Single submitter orthostatic hypotension 1
p.Tyr353= Single submitter orthostatic hypotension 1
p.Tyr495= Single submitter orthostatic hypotension 1
p.Val136= Single submitter orthostatic hypotension 1
p.Val195= Single submitter orthostatic hypotension 1
p.Val420= Single submitter orthostatic hypotension 1
p.Val453= Single submitter orthostatic hypotension 1
p.Val492= Single submitter orthostatic hypotension 1

Uncertain significance 259

c.1024+6C>T Multiple submitters orthostatic hypotension 1
c.486+15C>T Multiple submitters orthostatic hypotension 1
c.744+4del Multiple submitters Inborn genetic diseases
c.*393C>T Multiple submitters orthostatic hypotension 1
p.Ala113Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala259Val Multiple submitters orthostatic hypotension 1 ⚠
p.Ala383Val Multiple submitters Inborn genetic diseases ⚠
p.Ala506Thr Multiple submitters orthostatic hypotension 1 ⚠
p.Arg243Gln Multiple submitters orthostatic hypotension 1 ⚠
p.Arg343Gln Multiple submitters orthostatic hypotension 1 ⚠
p.Arg380Gln Multiple submitters orthostatic hypotension 1 ⚠
p.Arg380Trp Multiple submitters orthostatic hypotension 1 ⚠
p.Arg429Gln Multiple submitters orthostatic hypotension 1 ⚠
p.Arg43His Multiple submitters Inborn genetic diseases ⚠
p.Arg448His Multiple submitters orthostatic hypotension 1 ⚠
p.Arg473Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg473Trp Multiple submitters orthostatic hypotension 1 ⚠
p.Arg549His Multiple submitters orthostatic hypotension 1 ⚠
p.Arg549Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg572His Multiple submitters Inborn genetic diseases ⚠
p.Arg602Ter Multiple submitters orthostatic hypotension 1
p.Arg6His Multiple submitters Inborn genetic diseases ⚠
p.Arg6Ser Multiple submitters orthostatic hypotension 1 ⚠
p.Arg79Gln Multiple submitters orthostatic hypotension 1 ⚠
p.Arg92Cys Multiple submitters Inborn genetic diseases ⚠
p.Asp91Asn Multiple submitters Inborn genetic diseases ⚠
p.Glu272Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly164Ser Multiple submitters orthostatic hypotension 1 ⚠
p.Gly316Ser Multiple submitters orthostatic hypotension 1 ⚠
p.Gly320Arg Multiple submitters Inborn genetic diseases ⚠
p.His443Arg Multiple submitters Inborn genetic diseases ⚠
p.Ile246Val Multiple submitters orthostatic hypotension 1 ⚠
p.Ile519Thr Multiple submitters orthostatic hypotension 1 ⚠
p.Ile612Thr Multiple submitters orthostatic hypotension 1 ⚠
p.Leu328Arg Multiple submitters Inborn genetic diseases ⚠
p.Leu484Pro Multiple submitters orthostatic hypotension 1 ⚠
p.Lys157Thr Multiple submitters Inborn genetic diseases ⚠
p.Lys239Asn Multiple submitters Inborn genetic diseases ⚠
p.Met563Thr Multiple submitters orthostatic hypotension 1 ⚠
p.Phe87Leu Multiple submitters orthostatic hypotension 1 ⚠
p.Pro140Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro378Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro400Ser Multiple submitters Inborn genetic diseases ⚠
p.Ser186Leu Multiple submitters Inborn genetic diseases ⚠
p.Thr229Met Multiple submitters Inborn genetic diseases ⚠
p.Thr372Met Multiple submitters Inborn genetic diseases ⚠
p.Thr391Lys Multiple submitters Inborn genetic diseases ⚠
p.Thr498Met Multiple submitters orthostatic hypotension 1 ⚠
p.Tyr311Cys Multiple submitters orthostatic hypotension 1 ⚠
p.Tyr334Phe Multiple submitters Inborn genetic diseases ⚠
p.Val195Met Multiple submitters Inborn genetic diseases ⚠
p.Val298Met Multiple submitters orthostatic hypotension 1 ⚠
p.Val434Met Multiple submitters orthostatic hypotension 1 ⚠
p.Val453Phe Multiple submitters Inborn genetic diseases ⚠
p.Val454Met Multiple submitters orthostatic hypotension 1 ⚠
p.Val85Ile Multiple submitters orthostatic hypotension 1 ⚠
c.1191+6_1191+9del Single submitter orthostatic hypotension 1
c.1336-17G>A Single submitter orthostatic hypotension 1
c.1434+9C>T Single submitter orthostatic hypotension 1
c.1563-3C>T Single submitter orthostatic hypotension 1
c.1722+5G>A Single submitter orthostatic hypotension 1
c.744+4C>T Single submitter orthostatic hypotension 1
c.744+5G>A Single submitter orthostatic hypotension 1
c.744+5G>T Single submitter orthostatic hypotension 1
c.745-14_745-13del Single submitter orthostatic hypotension 1
c.921+4C>T Single submitter orthostatic hypotension 1
c.921+5G>A Single submitter orthostatic hypotension 1
c.*116G>A Single submitter orthostatic hypotension 1
c.*180A>G Single submitter orthostatic hypotension 1
c.*213A>C Single submitter orthostatic hypotension 1
c.*222C>T Single submitter orthostatic hypotension 1
c.*253C>G Single submitter orthostatic hypotension 1
c.*268A>G Single submitter orthostatic hypotension 1
c.*283A>C Single submitter orthostatic hypotension 1
c.*315G>A Single submitter orthostatic hypotension 1
c.*318C>A Single submitter orthostatic hypotension 1
c.*319C>T Single submitter orthostatic hypotension 1
c.*320G>A Single submitter orthostatic hypotension 1
c.*383C>T Single submitter orthostatic hypotension 1
c.*398C>T Single submitter orthostatic hypotension 1
c.*401C>T Single submitter orthostatic hypotension 1
c.*414C>G Single submitter orthostatic hypotension 1
c.*415C>T Single submitter orthostatic hypotension 1
c.*425C>T Single submitter orthostatic hypotension 1
c.*431C>T Single submitter orthostatic hypotension 1
c.*459A>G Single submitter orthostatic hypotension 1
c.*482C>T Single submitter orthostatic hypotension 1
c.*493C>T Single submitter orthostatic hypotension 1
c.*52G>A Single submitter orthostatic hypotension 1
c.*649C>T Single submitter orthostatic hypotension 1
c.*698C>T Single submitter orthostatic hypotension 1
c.*73C>T Single submitter orthostatic hypotension 1
c.*845G>A Single submitter orthostatic hypotension 1
c.*846G>A Single submitter orthostatic hypotension 1
p.Ala113= Single submitter orthostatic hypotension 1
p.Ala113Val Single submitter orthostatic hypotension 1 ⚠
p.Ala115Thr Single submitter orthostatic hypotension 1 ⚠
p.Ala218Val Single submitter orthostatic hypotension 1 ⚠
p.Ala270Thr Single submitter orthostatic hypotension 1 ⚠
p.Ala308Val Single submitter orthostatic hypotension 1 ⚠
p.Ala355Gly Single submitter Inborn genetic diseases ⚠
p.Ala362Thr Single submitter orthostatic hypotension 1 ⚠
p.Ala36Ser Single submitter Inborn genetic diseases ⚠
p.Ala36Thr Single submitter orthostatic hypotension 1 ⚠
p.Ala376= Single submitter orthostatic hypotension 1
p.Ala383Thr Single submitter Inborn genetic diseases ⚠
p.Ala3Ser Single submitter Inborn genetic diseases ⚠
p.Ala559Val Single submitter orthostatic hypotension 1 ⚠
p.Ala605Thr Single submitter orthostatic hypotension 1 ⚠
p.Arg16Gln Single submitter orthostatic hypotension 1 ⚠
p.Arg178Trp Single submitter orthostatic hypotension 1 ⚠
p.Arg291Cys Single submitter Inborn genetic diseases ⚠
p.Arg291Ser Single submitter Inborn genetic diseases ⚠
p.Arg296His Single submitter orthostatic hypotension 1 ⚠
p.Arg329His Single submitter Inborn genetic diseases ⚠
p.Arg350Cys Single submitter orthostatic hypotension 1 ⚠
p.Arg358Gln Single submitter orthostatic hypotension 1 ⚠
p.Arg359Cys Single submitter orthostatic hypotension 1 ⚠
p.Arg359His Single submitter orthostatic hypotension 1 ⚠
p.Arg429Trp Single submitter orthostatic hypotension 1 ⚠
p.Arg572Cys Single submitter orthostatic hypotension 1 ⚠
p.Arg602Gln Single submitter orthostatic hypotension 1 ⚠
p.Arg92His Single submitter orthostatic hypotension 1 ⚠
p.Asn220Ser Single submitter orthostatic hypotension 1 ⚠
p.Asn438Ser Single submitter Inborn genetic diseases ⚠
p.Asn578Thr Single submitter orthostatic hypotension 1 ⚠
p.Asn97Ser Single submitter Inborn genetic diseases ⚠
p.Asp106Ala Single submitter Inborn genetic diseases ⚠
p.Asp106Asn Single submitter orthostatic hypotension 1 ⚠
p.Asp114Glu Single submitter orthostatic hypotension 1 ⚠
p.Asp155Asn Single submitter Inborn genetic diseases ⚠
p.Asp155Gly Single submitter Inborn genetic diseases ⚠
p.Asp210Glu Single submitter Inborn genetic diseases ⚠
p.Asp284= Single submitter orthostatic hypotension 1
p.Asp392Asn Single submitter orthostatic hypotension 1 ⚠
p.Asp460Gly Single submitter orthostatic hypotension 1 ⚠
p.Asp460Val Single submitter Inborn genetic diseases ⚠
p.Asp472Gly Single submitter orthostatic hypotension 1 ⚠
p.Asp526Asn Single submitter Inborn genetic diseases ⚠
p.Asp550Asn Single submitter orthostatic hypotension 1 ⚠
p.Cys154Tyr Single submitter Inborn genetic diseases ⚠
p.Cys394Arg Single submitter Inborn genetic diseases ⚠
p.Cys466Arg Single submitter orthostatic hypotension 1 ⚠
p.Gln132Glu Single submitter Inborn genetic diseases ⚠
p.Gln193His Single submitter Inborn genetic diseases ⚠
p.Gln537Pro Single submitter orthostatic hypotension 1 ⚠
p.Gln580Glu Single submitter orthostatic hypotension 1 ⚠
p.Gln75Pro Single submitter orthostatic hypotension 1 ⚠
p.Glu174Lys Single submitter orthostatic hypotension 1 ⚠
p.Glu204Lys Single submitter orthostatic hypotension 1 ⚠
p.Glu258Lys Single submitter Inborn genetic diseases ⚠
p.Glu341= Single submitter orthostatic hypotension 1
p.Glu381Gln Single submitter orthostatic hypotension 1 ⚠
p.Glu44Lys Single submitter Inborn genetic diseases ⚠
p.Glu485Lys Single submitter orthostatic hypotension 1 ⚠
p.Glu486del Single submitter orthostatic hypotension 1
p.Glu525Lys Single submitter Inborn genetic diseases ⚠
p.Glu94Lys Single submitter Inborn genetic diseases ⚠
p.Gly121= Single submitter orthostatic hypotension 1
p.Gly152Val Single submitter Inborn genetic diseases ⚠
p.Gly164Asp Single submitter orthostatic hypotension 1 ⚠
p.Gly171Arg Single submitter orthostatic hypotension 1 ⚠
p.Gly191Arg Single submitter Inborn genetic diseases ⚠
p.Gly240Ser Single submitter Inborn genetic diseases ⚠
p.Gly305Asp Single submitter orthostatic hypotension 1 ⚠
p.Gly323Glu Single submitter Inborn genetic diseases ⚠
p.Gly323Val Single submitter Inborn genetic diseases ⚠
p.Gly388Asp Single submitter Inborn genetic diseases ⚠
p.Gly428Ser Single submitter orthostatic hypotension 1 ⚠
p.Gly459Arg Single submitter Inborn genetic diseases ⚠
p.Gly510Ser Single submitter orthostatic hypotension 1 ⚠
p.Gly575Val Single submitter Inborn genetic diseases ⚠
p.His263Arg Single submitter orthostatic hypotension 1 ⚠
p.His278Tyr Single submitter Inborn genetic diseases ⚠
p.His333Arg Single submitter Inborn genetic diseases ⚠
p.His564fs Single submitter orthostatic hypotension 1
p.His73Tyr Single submitter orthostatic hypotension 1 ⚠
p.Ile246Thr Single submitter Inborn genetic diseases ⚠
p.Ile252Met Single submitter orthostatic hypotension 1 ⚠
p.Ile340Thr Single submitter orthostatic hypotension 1 ⚠
p.Ile385= Single submitter orthostatic hypotension 1
p.Ile519= Single submitter orthostatic hypotension 1
p.Ile519del Single submitter orthostatic hypotension 1
p.Ile51Met Single submitter orthostatic hypotension 1 ⚠
p.Leu100Pro Single submitter orthostatic hypotension 1 ⚠
p.Leu192Pro Single submitter orthostatic hypotension 1 ⚠
p.Leu198Gln Single submitter orthostatic hypotension 1 ⚠
p.Leu317Phe Single submitter orthostatic hypotension 1 ⚠
p.Leu330Pro Single submitter Inborn genetic diseases ⚠
p.Leu386del Single submitter Inborn genetic diseases
p.Leu424Val Single submitter orthostatic hypotension 1 ⚠
p.Leu4Phe Single submitter orthostatic hypotension 1 ⚠
p.Leu500Val Single submitter orthostatic hypotension 1 ⚠
p.Leu86Gln Single submitter Inborn genetic diseases ⚠
p.Lys356Glu Single submitter orthostatic hypotension 1 ⚠
p.Lys393Glu Single submitter Inborn genetic diseases ⚠
p.Lys419Asn Single submitter Inborn genetic diseases ⚠
p.Lys452Asn Single submitter orthostatic hypotension 1 ⚠
p.Lys504Arg Single submitter orthostatic hypotension 1 ⚠
p.Lys82Arg Single submitter orthostatic hypotension 1 ⚠
p.Lys82Glu Single submitter Inborn genetic diseases ⚠
p.Met21Arg Single submitter orthostatic hypotension 1 ⚠
p.Met21Thr Single submitter orthostatic hypotension 1 ⚠
p.Met21Val Single submitter orthostatic hypotension 1 ⚠
p.Met264Ile Single submitter orthostatic hypotension 1 ⚠
p.Met264Leu Single submitter Inborn genetic diseases ⚠
p.Met273Thr Single submitter orthostatic hypotension 1 ⚠
p.Met449Thr Single submitter orthostatic hypotension 1 ⚠
p.Phe241Val Single submitter Inborn genetic diseases ⚠
p.Phe309Leu Single submitter Inborn genetic diseases ⚠
p.Phe407Leu Single submitter Inborn genetic diseases ⚠
p.Phe516Leu Single submitter orthostatic hypotension 1 ⚠
p.Phe74Tyr Single submitter Inborn genetic diseases ⚠
p.Pro127Leu Single submitter orthostatic hypotension 1 ⚠
p.Pro156Leu Single submitter Inborn genetic diseases ⚠
p.Pro176Leu Single submitter Inborn genetic diseases ⚠
p.Pro205Leu Single submitter orthostatic hypotension 1 ⚠
p.Pro224Leu Single submitter orthostatic hypotension 1 ⚠
p.Pro458= Single submitter orthostatic hypotension 1
p.Pro458Leu Single submitter Inborn genetic diseases ⚠
p.Pro496Ser Single submitter sensorineural hearing loss disorder ⚠
p.Pro531Arg Single submitter Inborn genetic diseases ⚠
p.Pro543Ser Single submitter Inborn genetic diseases ⚠
p.Pro604Ser Single submitter Inborn genetic diseases ⚠
p.Ser275Gly Single submitter orthostatic hypotension 1 ⚠
p.Ser402Cys Single submitter Inborn genetic diseases ⚠
p.Ser402Gly Single submitter orthostatic hypotension 1
p.Ser441Thr Single submitter Inborn genetic diseases ⚠
p.Ser455Leu Single submitter Inborn genetic diseases ⚠
p.Ser465Thr Single submitter orthostatic hypotension 1 ⚠
p.Ser611Gly Single submitter Inborn genetic diseases ⚠
p.Ser611Thr Single submitter Inborn genetic diseases ⚠
p.Ser9Asn Single submitter orthostatic hypotension 1 ⚠
p.Thr105Asn Single submitter Inborn genetic diseases ⚠
p.Thr109Ile Single submitter orthostatic hypotension 1 ⚠
p.Thr213Ile Single submitter orthostatic hypotension 1 ⚠
p.Thr213Ser Single submitter orthostatic hypotension 1 ⚠
p.Thr229Lys Single submitter orthostatic hypotension 1 ⚠
p.Thr391Arg Single submitter orthostatic hypotension 1 ⚠
p.Thr391Met Single submitter orthostatic hypotension 1 ⚠
p.Thr467Lys Single submitter Inborn genetic diseases ⚠
p.Thr498Arg Single submitter Inborn genetic diseases ⚠
p.Thr593Ile Single submitter Inborn genetic diseases ⚠
p.Thr608_Val609insSerGlnGlyArgSerProAlaGlyProThr Single submitter orthostatic hypotension 1
p.Tyr352Cys Single submitter Inborn genetic diseases ⚠
p.Tyr389Asp Single submitter Inborn genetic diseases ⚠
p.Tyr491= Single submitter orthostatic hypotension 1
p.Tyr49Cys Single submitter orthostatic hypotension 1 ⚠
p.Tyr49Phe Single submitter Inborn genetic diseases ⚠
p.Val101Met Single submitter orthostatic hypotension 1 ⚠
p.Val136Leu Single submitter Inborn genetic diseases ⚠
p.Val195Leu Single submitter orthostatic hypotension 1 ⚠
p.Val276Ile Single submitter orthostatic hypotension 1 ⚠
p.Val454Leu Single submitter orthostatic hypotension 1 ⚠
p.Val478= Single submitter orthostatic hypotension 1
p.Val492Met Single submitter Inborn genetic diseases ⚠
p.Val535Met Single submitter Inborn genetic diseases ⚠
p.Val542Ile Single submitter Inborn genetic diseases ⚠
p.Val551Ile Single submitter Inborn genetic diseases ⚠