SRP72 — 1250 ClinVar variants
All ClinVar germline SRP72 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 645 flagged for review →
19 Conflicting · 61 Benign · 26 Benign/Likely benign · 355 Likely benign · 789 Uncertain significance
Full SRP72 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 645
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 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SRP72 p.Ala13Ser
Conflicting
Single submitter
autosomal dominant aplasia and myelodysplasia
- SRP72 p.Asp480Val Conflicting Single submitter
- SRP72 p.Ile530Val Conflicting Single submitter
-
SRP72 p.Lys325Glu
Conflicting
Single submitter
autosomal dominant aplasia and myelodysplasia
- SRP72 p.Met379Val Conflicting Single submitter
-
SRP72 p.Val136Ile
Conflicting
Single submitter
autosomal dominant aplasia and myelodysplasia
-
SRP72 p.Val45Ile
Conflicting
Single submitter
SRP72-related disorder
Predictors lean, ClinVar uncertain 465
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 465
- SRP72 p.Ala13Thr Uncertain significance Multiple submitters
- SRP72 p.Ala156Gly Uncertain significance Multiple submitters
- SRP72 p.Ala185Val Uncertain significance Multiple submitters
- SRP72 p.Ala291Val Uncertain significance Multiple submitters
- SRP72 p.Ala345Thr Uncertain significance Multiple submitters
- SRP72 p.Ala372Gly Uncertain significance Multiple submitters
- SRP72 p.Ala392Val Uncertain significance Multiple submitters
- SRP72 p.Ala432Thr Uncertain significance Multiple submitters
- SRP72 p.Ala607Ser Uncertain significance Multiple submitters
- SRP72 p.Ala607Thr Uncertain significance Multiple submitters
- SRP72 p.Ala64Pro Uncertain significance Multiple submitters
- SRP72 p.Ala64Val Uncertain significance Multiple submitters
- SRP72 p.Ala76Thr Uncertain significance Multiple submitters
- SRP72 p.Arg121His Uncertain significance Multiple submitters
-
SRP72 p.Arg208His
Uncertain significance
Multiple submitters
autosomal dominant aplasia and myelodysplasia
- SRP72 p.Arg241Gln Uncertain significance Multiple submitters
- SRP72 p.Arg324Cys Uncertain significance Multiple submitters
- SRP72 p.Arg324His Uncertain significance Multiple submitters
- SRP72 p.Arg324Leu Uncertain significance Multiple submitters
-
SRP72 p.Arg462Gln
Uncertain significance
Multiple submitters
SRP72-related disorder
- SRP72 p.Arg531Gln Uncertain significance Multiple submitters
- SRP72 p.Arg587Trp Uncertain significance Multiple submitters
- SRP72 p.Arg93Lys Uncertain significance Multiple submitters
- SRP72 p.Asn105Ser Uncertain significance Multiple submitters
- SRP72 p.Asn181Asp Uncertain significance Multiple submitters
- SRP72 p.Asn290Ser Uncertain significance Multiple submitters
- SRP72 p.Asn35Ser Uncertain significance Multiple submitters
- SRP72 p.Asn41His Uncertain significance Multiple submitters
-
SRP72 p.Asn41Ser
Uncertain significance
Multiple submitters
autosomal dominant aplasia and myelodysplasia
- SRP72 p.Asn69Ser Uncertain significance Multiple submitters
- SRP72 p.Asp204Glu Uncertain significance Multiple submitters
- SRP72 p.Asp366Gly Uncertain significance Multiple submitters
- SRP72 p.Asp495Gly Uncertain significance Multiple submitters
- SRP72 p.Asp567Val Uncertain significance Multiple submitters
- SRP72 p.Asp573Gly Uncertain significance Multiple submitters
- SRP72 p.Cys184Ser Uncertain significance Multiple submitters
-
SRP72 p.Cys50Tyr
Uncertain significance
Multiple submitters
SRP72-related disorder
- SRP72 p.Gln331Arg Uncertain significance Multiple submitters
- SRP72 p.Gln333Arg Uncertain significance Multiple submitters
- SRP72 p.Gln431Glu Uncertain significance Multiple submitters
- SRP72 p.Gln440Arg Uncertain significance Multiple submitters
-
SRP72 p.Gln546Lys
Uncertain significance
Multiple submitters
autosomal dominant aplasia and myelodysplasia
- SRP72 p.Gln603Glu Uncertain significance Multiple submitters
- SRP72 p.Glu113Lys Uncertain significance Multiple submitters
- SRP72 p.Glu145Asp Uncertain significance Multiple submitters
- SRP72 p.Glu145Lys Uncertain significance Multiple submitters
- SRP72 p.Glu162Gln Uncertain significance Multiple submitters
- SRP72 p.Glu162Lys Uncertain significance Multiple submitters
-
SRP72 p.Glu17Gly
Uncertain significance
Multiple submitters
autosomal dominant aplasia and myelodysplasia
- SRP72 p.Glu244Asp Uncertain significance Multiple submitters
- SRP72 p.Glu307Ala Uncertain significance Multiple submitters
- SRP72 p.Glu307Asp Uncertain significance Multiple submitters
- SRP72 p.Glu336Gln Uncertain significance Multiple submitters
- SRP72 p.Glu336Lys Uncertain significance Multiple submitters
- SRP72 p.Glu363Val Uncertain significance Multiple submitters
- SRP72 p.Glu374Lys Uncertain significance Multiple submitters
- SRP72 p.Glu401Ala Uncertain significance Multiple submitters
- SRP72 p.Glu582Lys Uncertain significance Multiple submitters
-
SRP72 p.Gly174Asp
Uncertain significance
Multiple submitters
SRP72-related disorder
- SRP72 p.Gly190Val Uncertain significance Multiple submitters
- SRP72 p.Gly216Arg Uncertain significance Multiple submitters
- SRP72 p.Gly588Val Uncertain significance Multiple submitters
- SRP72 p.His176Arg Uncertain significance Multiple submitters
- SRP72 p.His337Leu Uncertain significance Multiple submitters
- SRP72 p.His418Arg Uncertain significance Multiple submitters
- SRP72 p.His439Asn Uncertain significance Multiple submitters
- SRP72 p.His71Gln Uncertain significance Multiple submitters
- SRP72 p.Ile198Val Uncertain significance Multiple submitters
- SRP72 p.Ile266Leu Uncertain significance Multiple submitters
- SRP72 p.Ile266Thr Uncertain significance Multiple submitters
- SRP72 p.Ile270Ser Uncertain significance Multiple submitters
- SRP72 p.Ile271Val Uncertain significance Multiple submitters
- SRP72 p.Ile306Val Uncertain significance Multiple submitters
- SRP72 p.Ile326Met Uncertain significance Multiple submitters
- SRP72 p.Ile326Val Uncertain significance Multiple submitters
- SRP72 p.Ile358Val Uncertain significance Multiple submitters
- SRP72 p.Ile389Val Uncertain significance Multiple submitters
- SRP72 p.Ile40Met Uncertain significance Multiple submitters
- SRP72 p.Ile40Thr Uncertain significance Multiple submitters
- SRP72 p.Ile40Val Uncertain significance Multiple submitters
- SRP72 p.Ile433Val Uncertain significance Multiple submitters
- SRP72 p.Ile467Val Uncertain significance Multiple submitters
-
SRP72 p.Ile481Thr
Uncertain significance
Multiple submitters
autosomal dominant aplasia and myelodysplasia
- SRP72 p.Ile641Leu Uncertain significance Multiple submitters
- SRP72 p.Ile641Val Uncertain significance Multiple submitters
- SRP72 p.Ile642Leu Uncertain significance Multiple submitters
- SRP72 p.Leu14Pro Uncertain significance Multiple submitters
- SRP72 p.Leu171Phe Uncertain significance Multiple submitters
- SRP72 p.Leu178Pro Uncertain significance Multiple submitters
- SRP72 p.Leu31Pro Uncertain significance Multiple submitters
- SRP72 p.Leu402Ser Uncertain significance Multiple submitters
- SRP72 p.Leu449Val Uncertain significance Multiple submitters
- SRP72 p.Leu487Phe Uncertain significance Multiple submitters
- SRP72 p.Leu487Pro Uncertain significance Multiple submitters
- SRP72 p.Leu48Arg Uncertain significance Multiple submitters
- SRP72 p.Leu493Ile Uncertain significance Multiple submitters
- SRP72 p.Leu562Phe Uncertain significance Multiple submitters
- SRP72 p.Leu80Val Uncertain significance Multiple submitters
- SRP72 p.Lys163Arg Uncertain significance Multiple submitters
- SRP72 p.Lys325Arg Uncertain significance Multiple submitters
- SRP72 p.Lys42Arg Uncertain significance Multiple submitters
- SRP72 p.Lys457Arg Uncertain significance Multiple submitters
- SRP72 p.Lys51Glu Uncertain significance Multiple submitters
- SRP72 p.Lys532Arg Uncertain significance Multiple submitters
- SRP72 p.Lys533Arg Uncertain significance Multiple submitters
- SRP72 p.Lys544Met Uncertain significance Multiple submitters
- SRP72 p.Lys553Thr Uncertain significance Multiple submitters
- SRP72 p.Lys561Arg Uncertain significance Multiple submitters
- SRP72 p.Lys564Thr Uncertain significance Multiple submitters
- SRP72 p.Lys590Arg Uncertain significance Multiple submitters
- SRP72 p.Lys594Arg Uncertain significance Multiple submitters
- SRP72 p.Met315Val Uncertain significance Multiple submitters
- SRP72 p.Met512Leu Uncertain significance Multiple submitters
- SRP72 p.Met512Thr Uncertain significance Multiple submitters
- SRP72 p.Met580Thr Uncertain significance Multiple submitters
- SRP72 p.Phe61Cys Uncertain significance Multiple submitters
- SRP72 p.Pro166Ser Uncertain significance Multiple submitters
-
SRP72 p.Pro257Arg
Uncertain significance
Multiple submitters
autosomal dominant aplasia and myelodysplasia
- SRP72 p.Pro340Leu Uncertain significance Multiple submitters
- SRP72 p.Pro441Ser Uncertain significance Multiple submitters
- SRP72 p.Pro444Leu Uncertain significance Multiple submitters
- SRP72 p.Pro444Ser Uncertain significance Multiple submitters
- SRP72 p.Pro622Leu Uncertain significance Multiple submitters
-
SRP72 p.Ser103Asn
Uncertain significance
Multiple submitters
autosomal dominant aplasia and myelodysplasia
- SRP72 p.Ser209Leu Uncertain significance Multiple submitters
- SRP72 p.Ser329Asn Uncertain significance Multiple submitters
- SRP72 p.Ser329Gly Uncertain significance Multiple submitters
- SRP72 p.Ser417Asn Uncertain significance Multiple submitters
- SRP72 p.Ser508Leu Uncertain significance Multiple submitters
- SRP72 p.Ser60Gly Uncertain significance Multiple submitters
- SRP72 p.Thr242Ala Uncertain significance Multiple submitters
- SRP72 p.Thr355Arg Uncertain significance Multiple submitters
- SRP72 p.Thr528Ala Uncertain significance Multiple submitters
- SRP72 p.Thr624Ala Uncertain significance Multiple submitters
- SRP72 p.Tyr249Cys Uncertain significance Multiple submitters
- SRP72 p.Tyr416Cys Uncertain significance Multiple submitters
- SRP72 p.Tyr436Phe Uncertain significance Multiple submitters
- SRP72 p.Tyr460Cys Uncertain significance Multiple submitters
- SRP72 p.Tyr491His Uncertain significance Multiple submitters
- SRP72 p.Tyr585His Uncertain significance Multiple submitters
- SRP72 p.Val155Ile Uncertain significance Multiple submitters
- SRP72 p.Val165Ala Uncertain significance Multiple submitters
- SRP72 p.Val260Met Uncertain significance Multiple submitters
- SRP72 p.Val279Ile Uncertain significance Multiple submitters
- SRP72 p.Val294Gly Uncertain significance Multiple submitters
- SRP72 p.Val409Ile Uncertain significance Multiple submitters
-
SRP72 p.Val428Phe
Uncertain significance
Multiple submitters
autosomal dominant aplasia and myelodysplasia
- SRP72 p.Val45Leu Uncertain significance Multiple submitters
- SRP72 p.Val494Ile Uncertain significance Multiple submitters
- SRP72 p.Val518Ile Uncertain significance Multiple submitters
Predictors split 173
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 173
- SRP72 p.Ala314Val Uncertain significance Multiple submitters
- SRP72 p.Ala97Thr Uncertain significance Multiple submitters
- SRP72 p.Arg124Cys Uncertain significance Multiple submitters
- SRP72 p.Arg124His Uncertain significance Multiple submitters
- SRP72 p.Arg137Gln Uncertain significance Multiple submitters
- SRP72 p.Arg207Cys Uncertain significance Multiple submitters
-
SRP72 p.Arg207His
Uncertain significance
Multiple submitters
autosomal dominant aplasia and myelodysplasia
-
SRP72 p.Arg208Cys
Uncertain significance
Multiple submitters
autosomal dominant aplasia and myelodysplasia
- SRP72 p.Arg29Cys Uncertain significance Multiple submitters
- SRP72 p.Arg350Cys Uncertain significance Multiple submitters
- SRP72 p.Arg350Gly Uncertain significance Multiple submitters
- SRP72 p.Arg350His Uncertain significance Multiple submitters
- SRP72 p.Arg462Trp Uncertain significance Multiple submitters
- SRP72 p.Arg531Trp Uncertain significance Multiple submitters
- SRP72 p.Arg581Gln Uncertain significance Multiple submitters
- SRP72 p.Arg587Gln Uncertain significance Multiple submitters
- SRP72 p.Asn92Asp Uncertain significance Multiple submitters
- SRP72 p.Glu102Ala Uncertain significance Multiple submitters
- SRP72 p.Glu203Lys Uncertain significance Multiple submitters
- SRP72 p.Glu295Lys Uncertain significance Multiple submitters
- SRP72 p.Gly588Ala Uncertain significance Multiple submitters
- SRP72 p.Gly59Arg Uncertain significance Multiple submitters
-
SRP72 p.Gly7Arg
Uncertain significance
Multiple submitters
autosomal dominant aplasia and myelodysplasia
- SRP72 p.His71Arg Uncertain significance Multiple submitters
- SRP72 p.Ile384Ser Uncertain significance Multiple submitters
- SRP72 p.Ile399Thr Uncertain significance Multiple submitters
-
SRP72 p.Ile530Thr
Benign/Likely benign
Multiple submitters
autosomal dominant aplasia and myelodysplasia
- SRP72 p.Leu114Phe Uncertain significance Multiple submitters
- SRP72 p.Leu186Val Uncertain significance Multiple submitters
-
SRP72 p.Leu192Val
Uncertain significance
Multiple submitters
autosomal dominant aplasia and myelodysplasia
- SRP72 p.Leu613Pro Uncertain significance Multiple submitters
- SRP72 p.Lys310Glu Uncertain significance Multiple submitters
- SRP72 p.Lys32Glu Uncertain significance Multiple submitters
- SRP72 p.Lys459Ile Uncertain significance Multiple submitters
- SRP72 p.Lys73Glu Uncertain significance Multiple submitters
- SRP72 p.Met232Ile Uncertain significance Multiple submitters
- SRP72 p.Met315Thr Uncertain significance Multiple submitters
-
SRP72 p.Met415Ile
Uncertain significance
Multiple submitters
SRP72-related disorder
- SRP72 p.Phe364Cys Uncertain significance Multiple submitters
- SRP72 p.Phe456Leu Uncertain significance Multiple submitters
- SRP72 p.Pro626Ala Uncertain significance Multiple submitters
- SRP72 p.Pro644Ala Uncertain significance Multiple submitters
- SRP72 p.Pro644Leu Uncertain significance Multiple submitters
- SRP72 p.Pro644Ser Uncertain significance Multiple submitters
-
SRP72 p.Ser10Leu
Uncertain significance
Multiple submitters
autosomal dominant aplasia and myelodysplasia
- SRP72 p.Ser16Arg Uncertain significance Multiple submitters
-
SRP72 p.Ser332Cys
Uncertain significance
Multiple submitters
SRP72-related disorder
- SRP72 p.Ser448Pro Uncertain significance Multiple submitters
- SRP72 p.Ser511Cys Uncertain significance Multiple submitters
- SRP72 p.Thr175Arg Uncertain significance Multiple submitters
- SRP72 p.Thr28Lys Uncertain significance Multiple submitters
- SRP72 p.Val118Met Uncertain significance Multiple submitters
- SRP72 p.Val131Ala Uncertain significance Multiple submitters
- SRP72 p.Ala291Glu Uncertain significance Single submitter
- SRP72 p.Ala30Gly Uncertain significance Single submitter
- SRP72 p.Ala30Thr Uncertain significance Single submitter
- SRP72 p.Ala357Gly Uncertain significance Single submitter
- SRP72 p.Ala425Val Uncertain significance Single submitter
- SRP72 p.Ala485Thr Uncertain significance Single submitter
- SRP72 p.Ala490Thr Uncertain significance Single submitter
- SRP72 p.Ala520Val Uncertain significance Single submitter
- SRP72 p.Ala64Ser Uncertain significance Single submitter
- SRP72 p.Arg133Gly Uncertain significance Single submitter
- SRP72 p.Arg20Gln Uncertain significance Single submitter
- SRP72 p.Arg29Gly Uncertain significance Single submitter
- SRP72 p.Arg583Cys Uncertain significance Single submitter
- SRP72 p.Arg583His Uncertain significance Single submitter
- SRP72 p.Asn24Lys Uncertain significance Single submitter
- SRP72 p.Asn268Ser Uncertain significance Single submitter
- SRP72 p.Asn35Lys Uncertain significance Single submitter
- SRP72 p.Asn92His Uncertain significance Single submitter
- SRP72 p.Asn96Lys Uncertain significance Single submitter
- SRP72 p.Asp134Gly Uncertain significance Single submitter
- SRP72 p.Asp259Asn Uncertain significance Single submitter
- SRP72 p.Asp259Glu Uncertain significance Single submitter
- SRP72 p.Asp26Asn Uncertain significance Single submitter
- SRP72 p.Asp276Gly Uncertain significance Single submitter
- SRP72 p.Asp495Glu Uncertain significance Single submitter
- SRP72 p.Asp510Gly Uncertain significance Single submitter
- SRP72 p.Cys323Gly Uncertain significance Single submitter
- SRP72 p.Gln239Arg Uncertain significance Single submitter
- SRP72 p.Gln251His Uncertain significance Single submitter
- SRP72 p.Gln362His Uncertain significance Single submitter
- SRP72 p.Gln486Leu Uncertain significance Single submitter
- SRP72 p.Gln597Leu Uncertain significance Single submitter
- SRP72 p.Gln647His Uncertain significance Single submitter
- SRP72 p.Glu102Gly Uncertain significance Single submitter
- SRP72 p.Glu295Ala Uncertain significance Single submitter
- SRP72 p.Glu420Lys Uncertain significance Single submitter
- SRP72 p.Glu465Val Uncertain significance Single submitter
- SRP72 p.Gly240Asp Uncertain significance Single submitter
- SRP72 p.Gly293Arg Uncertain significance Single submitter
- SRP72 p.Gly293Val Uncertain significance Single submitter
- SRP72 p.Gly387Asp Uncertain significance Single submitter
- SRP72 p.Gly588Arg Uncertain significance Single submitter
- SRP72 p.Gly608Glu Uncertain significance Single submitter
- SRP72 p.Gly667Arg Uncertain significance Single submitter
- SRP72 p.His176Asp Uncertain significance Single submitter
- SRP72 p.His229Asp Uncertain significance Single submitter
- SRP72 p.His404Arg Uncertain significance Single submitter
- SRP72 p.His439Leu Uncertain significance Single submitter
- SRP72 p.Ile101Val Uncertain significance Single submitter
- SRP72 p.Ile227Asn Uncertain significance Single submitter
- SRP72 p.Ile227Ser Uncertain significance Single submitter
- SRP72 p.Ile228Val Uncertain significance Single submitter
- SRP72 p.Ile273Val Uncertain significance Single submitter
- SRP72 p.Ile384Thr Uncertain significance Single submitter
- SRP72 p.Ile395Lys Uncertain significance Single submitter
- SRP72 p.Ile433Thr Uncertain significance Single submitter
- SRP72 p.Ile467Phe Uncertain significance Single submitter
- SRP72 p.Ile68Val Uncertain significance Single submitter
- SRP72 p.Leu171Pro Uncertain significance Single submitter
- SRP72 p.Leu225Gln Uncertain significance Single submitter
- SRP72 p.Leu255Pro Uncertain significance Single submitter
- SRP72 p.Leu298Phe Uncertain significance Single submitter
- SRP72 p.Leu361Phe Uncertain significance Single submitter
- SRP72 p.Leu458Phe Uncertain significance Single submitter
- SRP72 p.Leu98Val Uncertain significance Single submitter
- SRP72 p.Lys110Ile Uncertain significance Single submitter
- SRP72 p.Lys310Asn Uncertain significance Single submitter
- SRP72 p.Lys325Thr Uncertain significance Single submitter
- SRP72 p.Lys32Gln Uncertain significance Single submitter
- SRP72 p.Lys36Thr Uncertain significance Single submitter
- SRP72 p.Lys376Asn Uncertain significance Single submitter
- SRP72 p.Lys376Glu Uncertain significance Single submitter
- SRP72 p.Lys457Asn Uncertain significance Single submitter
- SRP72 p.Lys564Arg Uncertain significance Single submitter
- SRP72 p.Lys594Asn Uncertain significance Single submitter
- SRP72 p.Met232Lys Uncertain significance Single submitter
- SRP72 p.Met315Ile Uncertain significance Single submitter
- SRP72 p.Met415Thr Uncertain significance Single submitter
- SRP72 p.Met580Lys Uncertain significance Single submitter
- SRP72 p.Phe296Leu Uncertain significance Single submitter
- SRP72 p.Phe364Ser Uncertain significance Single submitter
- SRP72 p.Phe429Leu Uncertain significance Single submitter
- SRP72 p.Pro441Leu Uncertain significance Single submitter
- SRP72 p.Pro643Leu Uncertain significance Single submitter
- SRP72 p.Pro649Arg Uncertain significance Single submitter
- SRP72 p.Ser159Arg Uncertain significance Single submitter
-
SRP72 p.Ser327Pro
Uncertain significance
Single submitter
autosomal dominant aplasia and myelodysplasia
- SRP72 p.Ser385Pro Uncertain significance Single submitter
- SRP72 p.Ser417Arg Uncertain significance Single submitter
- SRP72 p.Ser443Pro Uncertain significance Single submitter
- SRP72 p.Ser620Cys Uncertain significance Single submitter
- SRP72 p.Ser625Thr Uncertain significance Single submitter
- SRP72 p.Ser630Arg Uncertain significance Single submitter
- SRP72 p.Ser639Arg Uncertain significance Single submitter
- SRP72 p.Thr100Ala Uncertain significance Single submitter
- SRP72 p.Thr108Ala Uncertain significance Single submitter
- SRP72 p.Thr149Ser Uncertain significance Single submitter
All SRP72 variants
Conflicting classifications of pathogenicity 19
- c.110-5T>G Single submitter autosomal dominant aplasia and myelodysplasia
- c.1225-6G>A Single submitter autosomal dominant aplasia and myelodysplasia
- c.1321-4_1321-3del Single submitter
- p.Ala13Ser Single submitter autosomal dominant aplasia and myelodysplasia ⚠
- p.Asp480Val Single submitter ⚠
- p.Cys323= Single submitter
- p.Glu363= Single submitter
- p.Glu519Val Single submitter
- p.Gly8Glu Single submitter autosomal dominant aplasia and myelodysplasia
- p.Ile530Val Single submitter ⚠
- p.Leu14= Single submitter
- p.Leu470= Single submitter
- p.Lys325Glu Single submitter autosomal dominant aplasia and myelodysplasia ⚠
- p.Lys36= Single submitter
- p.Met379Val Single submitter ⚠
- p.Ser398= Single submitter
- p.Thr28= Single submitter
- p.Val136Ile Single submitter autosomal dominant aplasia and myelodysplasia ⚠
- p.Val45Ile Single submitter SRP72-related disorder ⚠
Benign 61
- c.1086+59T>C Multiple submitters
- c.109+71G>A Multiple submitters
- c.1225-182C>T Multiple submitters
- c.1502+161C>T Multiple submitters
- c.1640+88A>G Multiple submitters
- c.1678+67A>C Multiple submitters
- c.1679-136T>G Multiple submitters
- c.1839-41G>A Multiple submitters
- c.354+179A>G Multiple submitters
- c.355-111T>C Multiple submitters
- c.610+35C>T Multiple submitters autosomal dominant aplasia and myelodysplasia
- c.826-23A>G Multiple submitters autosomal dominant aplasia and myelodysplasia
- c.*1313C>G Multiple submitters autosomal dominant aplasia and myelodysplasia
- c.*139G>A Multiple submitters autosomal dominant aplasia and myelodysplasia
- c.*1603A>G Multiple submitters autosomal dominant aplasia and myelodysplasia
- c.*173T>C Multiple submitters autosomal dominant aplasia and myelodysplasia
- c.*386G>A Multiple submitters autosomal dominant aplasia and myelodysplasia
- c.*442A>G Multiple submitters autosomal dominant aplasia and myelodysplasia
- c.*732A>G Multiple submitters autosomal dominant aplasia and myelodysplasia
- c.*780C>T Multiple submitters autosomal dominant aplasia and myelodysplasia
- p.His229Arg Multiple submitters autosomal dominant aplasia and myelodysplasia
- c.1087-172A>G Single submitter
- c.109+202C>G Single submitter
- c.109+232C>G Single submitter
- c.1160-213A>G Single submitter
- c.1224+289C>T Single submitter
- c.1225-292T>C Single submitter
- c.1321-102C>G Single submitter
- c.1321-163C>G Single submitter
- c.1321-266del Single submitter
- c.1321-345G>T Single submitter
- c.1641-46A>C Single submitter
- c.1838+265_1838+266insGT Single submitter
- c.1838+281dup Single submitter
- c.1839-260_1839-259del Single submitter
- c.1839-45C>T Single submitter
- c.230+122dup Single submitter
- c.230+215_230+216del Single submitter
- c.230+215_230+216dup Single submitter
- c.230+307_230+310del Single submitter
- c.231-11del Single submitter
- c.231-273G>T Single submitter
- c.355-279dup Single submitter
- c.610+147C>T Single submitter
- c.610+163del Single submitter
- c.610+296G>A Single submitter
- c.610+328T>C Single submitter
- c.610+332T>A Single submitter
- c.611-202C>A Single submitter
- c.643-224T>A Single submitter
- c.643-225del Single submitter
- c.643-293A>T Single submitter
- c.825+204G>C Single submitter
- c.957+263T>C Single submitter
- c.958-139A>G Single submitter
- c.*24G>A Single submitter autosomal dominant aplasia and myelodysplasia
- c.*558T>C Single submitter autosomal dominant aplasia and myelodysplasia
- c.*622_*639del Single submitter
- c.*637TA[11] Single submitter
- c.*972G>A Single submitter autosomal dominant aplasia and myelodysplasia
- p.Ala607Gly Single submitter
Benign/Likely benign 26
- c.1425-4T>C Multiple submitters
- c.1640+6dup Multiple submitters autosomal dominant aplasia and myelodysplasia
- c.1641-11del Multiple submitters
- c.1641-11dup Multiple submitters
- c.1678+16del Multiple submitters
- c.1838+19A>G Multiple submitters
- c.231-11dup Multiple submitters
- c.498+16G>T Multiple submitters
- c.499-17A>G Multiple submitters
- c.610+11T>C Multiple submitters
- c.610+18C>T Multiple submitters
- c.768-20C>T Multiple submitters autosomal dominant aplasia and myelodysplasia
- c.958-16del Multiple submitters autosomal dominant aplasia and myelodysplasia
- p.Arg20Trp Multiple submitters autosomal dominant aplasia and myelodysplasia
- p.Asn309= Multiple submitters
- p.Asp550= Multiple submitters autosomal dominant aplasia and myelodysplasia
- p.Gly539= Multiple submitters
- p.Gly601= Multiple submitters autosomal dominant aplasia and myelodysplasia
- p.Ile530Thr Multiple submitters autosomal dominant aplasia and myelodysplasia ⚠
- p.Leu263= Multiple submitters autosomal dominant aplasia and myelodysplasia
- p.Leu98= Multiple submitters autosomal dominant aplasia and myelodysplasia
- p.Lys557= Multiple submitters autosomal dominant aplasia and myelodysplasia
- p.Lys668= Multiple submitters autosomal dominant aplasia and myelodysplasia
- p.Pro568= Multiple submitters autosomal dominant aplasia and myelodysplasia
- p.Ser390= Multiple submitters
- p.Tyr460= Multiple submitters autosomal dominant aplasia and myelodysplasia
Likely benign 355
Showing the top 300 by review status; the full set is in the sitemap.
- c.1087-14C>T Multiple submitters
- c.110-19T>G Multiple submitters
- c.1424+14C>T Multiple submitters
- c.1502+20del Multiple submitters
- c.1641-19T>C Multiple submitters
- c.1678+19C>T Multiple submitters
- c.1679-16T>C Multiple submitters
- c.1679-9G>A Multiple submitters
- c.1838+16A>C Multiple submitters
- c.498+9C>A Multiple submitters
- c.499-15T>C Multiple submitters
- c.610+139G>A Multiple submitters
- c.611-7C>T Multiple submitters
- c.642+10C>A Multiple submitters
- c.642+12A>G Multiple submitters
- c.826-20G>A Multiple submitters
- c.958-9A>G Multiple submitters
- p.Ala183= Multiple submitters
- p.Ala291= Multiple submitters
- p.Ala314= Multiple submitters
- p.Ala432= Multiple submitters
- p.Ala631= Multiple submitters
- p.Ala85= Multiple submitters
- p.Arg207= Multiple submitters
- p.Arg29= Multiple submitters
- p.Arg645= Multiple submitters
- p.Asn268= Multiple submitters
- p.Asn290= Multiple submitters
- p.Asn41= Multiple submitters
- p.Asn565= Multiple submitters
- p.Asp421= Multiple submitters
- p.Asp44= Multiple submitters
- p.Asp614= Multiple submitters
- p.Cys87= Multiple submitters
- p.Gln107= Multiple submitters
- p.Gln231= Multiple submitters
- p.Gln247= Multiple submitters
- p.Gln304= Multiple submitters
- p.Gln322= Multiple submitters
- p.Gln333= Multiple submitters
- p.Gln486= Multiple submitters
- p.Glu145= Multiple submitters
- p.Glu17= Multiple submitters
- p.Glu218= Multiple submitters
- p.Gly22= Multiple submitters
- p.Gly7= Multiple submitters
- p.His49= Multiple submitters
- p.His505= Multiple submitters
- p.Leu129= Multiple submitters
- p.Leu135= Multiple submitters
- p.Leu225= Multiple submitters
- p.Leu255= Multiple submitters
- p.Leu303= Multiple submitters
- p.Leu38= Multiple submitters
- p.Leu447= Multiple submitters
- p.Lys285= Multiple submitters
- p.Lys287= Multiple submitters
- p.Lys533= Multiple submitters
- p.Lys561= Multiple submitters
- p.Pro335= Multiple submitters
- p.Pro507= Multiple submitters
- p.Pro543= Multiple submitters
- p.Pro563= Multiple submitters
- p.Pro572= Multiple submitters
- p.Ser282= Multiple submitters
- p.Ser443= Multiple submitters
- p.Ser508= Multiple submitters
- p.Ser6= Multiple submitters
- p.Ser610= Multiple submitters
- p.Thr100= Multiple submitters
- p.Thr33= Multiple submitters
- p.Thr72= Multiple submitters
- p.Tyr120= Multiple submitters
- p.Tyr529= Multiple submitters
- p.Tyr566= Multiple submitters autosomal dominant aplasia and myelodysplasia
- p.Tyr86= Multiple submitters
- p.Tyr89= Multiple submitters
- p.Val155= Multiple submitters
- p.Val18= Multiple submitters
- p.Val74= Multiple submitters
- c.1086+11T>G Single submitter
- c.1086+12dup Single submitter
- c.1086+14T>C Single submitter
- c.1086+15T>C Single submitter
- c.1087-19C>T Single submitter
- c.1087-5T>C Single submitter
- c.109+125A>G Single submitter
- c.109+19A>G Single submitter
- c.110-16T>C Single submitter
- c.110-17C>T Single submitter
- c.1159+17C>T Single submitter
- c.1159+19T>C Single submitter
- c.1159+20G>A Single submitter
- c.1159+276A>G Single submitter
- c.1160-179T>G Single submitter
- c.1224+16T>C Single submitter
- c.1224+18C>T Single submitter
- c.1224+276A>G Single submitter
- c.1225-14C>T Single submitter
- c.1225-9G>T Single submitter
- c.1320+13A>G Single submitter
- c.1320+13del Single submitter
- c.1321-5T>C Single submitter
- c.1321-9A>G Single submitter
- c.1424+20G>A Single submitter
- c.1424+7T>G Single submitter
- c.1425-14A>G Single submitter
- c.1425-20T>A Single submitter
- c.1425-7C>G Single submitter
- c.1502+20T>G Single submitter
- c.1502+220A>C Single submitter
- c.1502+266C>G Single submitter
- c.1503-11T>C Single submitter
- c.1503-14C>A Single submitter
- c.1503-15C>A Single submitter
- c.1503-292T>C Single submitter
- c.1503-8T>C Single submitter
- c.1503-9C>T Single submitter
- c.1640+13A>C Single submitter
- c.1640+18A>G Single submitter
- c.1640+267A>G Single submitter
- c.1640+7T>G Single submitter
- c.1641-14T>G Single submitter
- c.1641-20del Single submitter
- c.1641-4G>T Single submitter
- c.1641-78_1641-75del Single submitter
- c.1678+11A>T Single submitter
- c.1678+196C>T Single submitter
- c.1678+306C>G Single submitter
- c.1678+8A>G Single submitter
- c.1678+9_1678+12dup Single submitter
- c.1679-10C>T Single submitter
- c.1679-14T>A Single submitter
- c.1838+121T>C Single submitter
- c.1838+14C>T Single submitter
- c.1838+251T>C Single submitter
- c.1838+74G>A Single submitter
- c.1838+9T>C Single submitter
- c.1839-10A>T Single submitter
- c.1839-11G>C Single submitter
- c.230+128dup Single submitter
- c.230+13G>A Single submitter
- c.230+17G>A Single submitter
- c.230+216dup Single submitter
- c.231-15T>C Single submitter
- c.231-19T>A Single submitter
- c.231-19T>C Single submitter
- c.231-19T>G Single submitter
- c.231-6C>T Single submitter
- c.231-9C>T Single submitter
- c.354+12T>C Single submitter
- c.354+17A>G Single submitter
- c.355-139T>C Single submitter
- c.355-13A>G Single submitter
- c.355-15C>T Single submitter autosomal dominant aplasia and myelodysplasia
- c.355-17T>C Single submitter
- c.355-6A>G Single submitter
- c.355-7T>C Single submitter
- c.498+10C>A Single submitter
- c.498+10C>G Single submitter
- c.498+11T>C Single submitter
- c.498+8T>C Single submitter
- c.498+9C>T Single submitter
- c.499-10C>A Single submitter
- c.499-19G>A Single submitter
- c.499-7_499-6del Single submitter
- c.610+163dup Single submitter
- c.611-17C>T Single submitter
- c.611-295_611-291del Single submitter
- c.642+11C>T Single submitter
- c.642+9T>C Single submitter
- c.643-227T>C Single submitter
- c.643-7del Single submitter
- c.643-8T>C Single submitter
- c.767+10del Single submitter
- c.767+13A>G Single submitter
- c.767+9T>C Single submitter
- c.768-14C>A Single submitter
- c.768-14C>G Single submitter
- c.768-16T>C Single submitter
- c.768-16T>G Single submitter
- c.768-5C>G Single submitter
- c.825+14del Single submitter
- c.825+15T>C Single submitter
- c.825+20T>A Single submitter
- c.826-14C>G Single submitter
- c.826-19A>T Single submitter
- c.957+123T>G Single submitter
- c.957+18G>T Single submitter
- c.957+19T>A Single submitter
- c.957+4G>A Single submitter
- c.957+8A>G Single submitter
- c.958-10T>C Single submitter
- c.958-11A>G Single submitter
- c.958-16G>T Single submitter
- p.Ala13= Single submitter
- p.Ala130= Single submitter
- p.Ala157= Single submitter
- p.Ala185= Single submitter
- p.Ala2= Single submitter
- p.Ala226= Single submitter
- p.Ala264= Single submitter
- p.Ala311= Single submitter
- p.Ala320= Single submitter
- p.Ala328= Single submitter
- p.Ala345= Single submitter
- p.Ala372= Single submitter
- p.Ala373= Single submitter
- p.Ala380= Single submitter
- p.Ala411= Single submitter
- p.Ala425= Single submitter
- p.Ala454= Single submitter
- p.Ala605= Single submitter
- p.Ala652= Single submitter
- p.Arg133= Single submitter
- p.Arg137= Single submitter
- p.Arg324= Single submitter
- p.Arg462= Single submitter
- p.Arg576= Single submitter
- p.Arg581= Single submitter
- p.Arg583= Single submitter
- p.Arg589= Single submitter
- p.Asn105= Single submitter
- p.Asn150= Single submitter
- p.Asn160= Single submitter
- p.Asn19= Single submitter
- p.Asn24= Single submitter
- p.Asn250= Single submitter
- p.Asn69= Single submitter
- p.Asn78= Single submitter
- p.Asn96= Single submitter
- p.Asp109= Single submitter
- p.Asp126= Single submitter
- p.Asp144= Single submitter
- p.Asp281= Single submitter
- p.Asp423= Single submitter
- p.Asp43= Single submitter
- p.Asp517= Single submitter
- p.Asp567= Single submitter
- p.Cys206= Single submitter
- p.Gln172= Single submitter
- p.Gln194= Single submitter
- p.Gln237= Single submitter
- p.Gln302= Single submitter
- p.Gln344= Single submitter
- p.Gln353= Single submitter
- p.Gln647= Single submitter
- p.Gln661= Single submitter
- p.Glu127= Single submitter
- p.Glu146= Single submitter
- p.Glu177= Single submitter
- p.Glu295= Single submitter
- p.Glu336= Single submitter
- p.Glu370= Single submitter
- p.Glu427= Single submitter
- p.Glu465= Single submitter
- p.Glu575= Single submitter
- p.Gly190= Single submitter
- p.Gly216= Single submitter
- p.Gly25= Single submitter
- p.Gly261= Single submitter
- p.Gly293= Single submitter
- p.Gly666= Single submitter
- p.His229= Single submitter
- p.His646= Single submitter
- p.Ile187= Single submitter
- p.Ile198= Single submitter
- p.Ile40= Single submitter
- p.Ile422= Single submitter
- p.Ile450= Single submitter
- p.Ile488= Single submitter
- p.Ile56= Single submitter
- p.Ile641= Single submitter
- p.Ile68= Single submitter
- p.Leu119= Single submitter
- p.Leu122= Single submitter
- p.Leu169= Single submitter
- p.Leu171= Single submitter
- p.Leu178= Single submitter
- p.Leu199= Single submitter
- p.Leu236= Single submitter
- p.Leu246= Single submitter
- p.Leu342= Single submitter
- p.Leu348= Single submitter
- p.Leu360= Single submitter
- p.Leu396= Single submitter
- p.Leu449= Single submitter
- p.Leu48= Single submitter
- p.Leu493= Single submitter
- p.Leu502= Single submitter
- p.Leu514= Single submitter
- p.Leu521= Single submitter
- p.Leu55= Single submitter
- p.Leu562= Single submitter
- p.Leu80= Single submitter
- p.Lys256= Single submitter
- p.Lys352= Single submitter
- p.Lys356= Single submitter
- p.Lys442= Single submitter
- p.Lys459= Single submitter
Uncertain significance 789
Showing the top 300 by review status; the full set is in the sitemap.
- c.1502+1G>A Multiple submitters
- c.1640+4A>G Multiple submitters
- c.768-9T>G Multiple submitters
- p.Ala13Thr Multiple submitters ⚠
- p.Ala156Gly Multiple submitters ⚠
- p.Ala185Val Multiple submitters ⚠
- p.Ala291Val Multiple submitters ⚠
- p.Ala314Val Multiple submitters ⚠
- p.Ala345Thr Multiple submitters ⚠
- p.Ala372Gly Multiple submitters ⚠
- p.Ala392Val Multiple submitters ⚠
- p.Ala432Thr Multiple submitters ⚠
- p.Ala607Ser Multiple submitters ⚠
- p.Ala607Thr Multiple submitters ⚠
- p.Ala64Pro Multiple submitters ⚠
- p.Ala64Val Multiple submitters ⚠
- p.Ala76Thr Multiple submitters ⚠
- p.Ala97Thr Multiple submitters ⚠
- p.Arg121His Multiple submitters ⚠
- p.Arg124Cys Multiple submitters ⚠
- p.Arg124His Multiple submitters ⚠
- p.Arg137Gln Multiple submitters ⚠
- p.Arg207Cys Multiple submitters ⚠
- p.Arg207His Multiple submitters autosomal dominant aplasia and myelodysplasia ⚠
- p.Arg208Cys Multiple submitters autosomal dominant aplasia and myelodysplasia ⚠
- p.Arg208His Multiple submitters autosomal dominant aplasia and myelodysplasia ⚠
- p.Arg241Gln Multiple submitters ⚠
- p.Arg29Cys Multiple submitters ⚠
- p.Arg324Cys Multiple submitters ⚠
- p.Arg324His Multiple submitters ⚠
- p.Arg324Leu Multiple submitters ⚠
- p.Arg350Cys Multiple submitters ⚠
- p.Arg350Gly Multiple submitters ⚠
- p.Arg350His Multiple submitters ⚠
- p.Arg462Gln Multiple submitters SRP72-related disorder ⚠
- p.Arg462Trp Multiple submitters ⚠
- p.Arg531Gln Multiple submitters ⚠
- p.Arg531Trp Multiple submitters ⚠
- p.Arg581Gln Multiple submitters ⚠
- p.Arg587Gln Multiple submitters ⚠
- p.Arg587Trp Multiple submitters ⚠
- p.Arg93Lys Multiple submitters ⚠
- p.Asn105Ser Multiple submitters ⚠
- p.Asn181Asp Multiple submitters ⚠
- p.Asn290Ser Multiple submitters ⚠
- p.Asn35Ser Multiple submitters ⚠
- p.Asn41His Multiple submitters ⚠
- p.Asn41Ser Multiple submitters autosomal dominant aplasia and myelodysplasia ⚠
- p.Asn69Ser Multiple submitters ⚠
- p.Asn92Asp Multiple submitters ⚠
- p.Asp204Glu Multiple submitters ⚠
- p.Asp366Gly Multiple submitters ⚠
- p.Asp495Gly Multiple submitters ⚠
- p.Asp567Val Multiple submitters ⚠
- p.Asp573Gly Multiple submitters ⚠
- p.Cys184Ser Multiple submitters ⚠
- p.Cys50Tyr Multiple submitters SRP72-related disorder ⚠
- p.Gln331Arg Multiple submitters ⚠
- p.Gln333Arg Multiple submitters ⚠
- p.Gln431Glu Multiple submitters ⚠
- p.Gln440Arg Multiple submitters ⚠
- p.Gln546Lys Multiple submitters autosomal dominant aplasia and myelodysplasia ⚠
- p.Gln603Glu Multiple submitters ⚠
- p.Glu102Ala Multiple submitters ⚠
- p.Glu113Lys Multiple submitters ⚠
- p.Glu145Asp Multiple submitters ⚠
- p.Glu145Lys Multiple submitters ⚠
- p.Glu162Gln Multiple submitters ⚠
- p.Glu162Lys Multiple submitters ⚠
- p.Glu17Gly Multiple submitters autosomal dominant aplasia and myelodysplasia ⚠
- p.Glu203Lys Multiple submitters ⚠
- p.Glu244Asp Multiple submitters ⚠
- p.Glu295Lys Multiple submitters ⚠
- p.Glu307Ala Multiple submitters ⚠
- p.Glu307Asp Multiple submitters ⚠
- p.Glu336Gln Multiple submitters ⚠
- p.Glu336Lys Multiple submitters ⚠
- p.Glu363Val Multiple submitters ⚠
- p.Glu374Lys Multiple submitters ⚠
- p.Glu401Ala Multiple submitters ⚠
- p.Glu582Lys Multiple submitters ⚠
- p.Gly174Asp Multiple submitters SRP72-related disorder ⚠
- p.Gly188Ala Multiple submitters
- p.Gly190Val Multiple submitters ⚠
- p.Gly216Arg Multiple submitters ⚠
- p.Gly588Ala Multiple submitters ⚠
- p.Gly588Val Multiple submitters ⚠
- p.Gly59Arg Multiple submitters ⚠
- p.Gly7Arg Multiple submitters autosomal dominant aplasia and myelodysplasia ⚠
- p.His176Arg Multiple submitters ⚠
- p.His337Leu Multiple submitters ⚠
- p.His418Arg Multiple submitters ⚠
- p.His439Asn Multiple submitters ⚠
- p.His71Arg Multiple submitters ⚠
- p.His71Gln Multiple submitters ⚠
- p.Ile198Val Multiple submitters ⚠
- p.Ile266Leu Multiple submitters ⚠
- p.Ile266Thr Multiple submitters ⚠
- p.Ile270Ser Multiple submitters ⚠
- p.Ile271Val Multiple submitters ⚠
- p.Ile306Val Multiple submitters ⚠
- p.Ile326Met Multiple submitters ⚠
- p.Ile326Val Multiple submitters ⚠
- p.Ile358Val Multiple submitters ⚠
- p.Ile384Ser Multiple submitters ⚠
- p.Ile389Val Multiple submitters ⚠
- p.Ile399Thr Multiple submitters ⚠
- p.Ile40Met Multiple submitters ⚠
- p.Ile40Thr Multiple submitters ⚠
- p.Ile40Val Multiple submitters ⚠
- p.Ile433Val Multiple submitters ⚠
- p.Ile467Val Multiple submitters ⚠
- p.Ile481Thr Multiple submitters autosomal dominant aplasia and myelodysplasia ⚠
- p.Ile641Leu Multiple submitters ⚠
- p.Ile641Val Multiple submitters ⚠
- p.Ile642Leu Multiple submitters ⚠
- p.Leu114Phe Multiple submitters ⚠
- p.Leu14Pro Multiple submitters ⚠
- p.Leu151Phe Multiple submitters
- p.Leu171Phe Multiple submitters ⚠
- p.Leu178Pro Multiple submitters ⚠
- p.Leu186Val Multiple submitters ⚠
- p.Leu192Val Multiple submitters autosomal dominant aplasia and myelodysplasia ⚠
- p.Leu31Pro Multiple submitters ⚠
- p.Leu402Ser Multiple submitters ⚠
- p.Leu449Val Multiple submitters ⚠
- p.Leu484= Multiple submitters SRP72-related disorder
- p.Leu487Phe Multiple submitters ⚠
- p.Leu487Pro Multiple submitters ⚠
- p.Leu48Arg Multiple submitters ⚠
- p.Leu493Ile Multiple submitters ⚠
- p.Leu55Phe Multiple submitters
- p.Leu562Phe Multiple submitters ⚠
- p.Leu613= Multiple submitters
- p.Leu613Pro Multiple submitters ⚠
- p.Leu80Val Multiple submitters ⚠
- p.Lys163Arg Multiple submitters ⚠
- p.Lys310Glu Multiple submitters ⚠
- p.Lys325Arg Multiple submitters ⚠
- p.Lys32Glu Multiple submitters ⚠
- p.Lys36Ter Multiple submitters
- p.Lys42Arg Multiple submitters ⚠
- p.Lys457Arg Multiple submitters ⚠
- p.Lys459Ile Multiple submitters ⚠
- p.Lys51Glu Multiple submitters ⚠
- p.Lys532Arg Multiple submitters ⚠
- p.Lys533Arg Multiple submitters ⚠
- p.Lys544Met Multiple submitters ⚠
- p.Lys553Thr Multiple submitters ⚠
- p.Lys561Arg Multiple submitters ⚠
- p.Lys564Thr Multiple submitters ⚠
- p.Lys590Arg Multiple submitters ⚠
- p.Lys594Arg Multiple submitters ⚠
- p.Lys73Glu Multiple submitters ⚠
- p.Met232Ile Multiple submitters ⚠
- p.Met315Thr Multiple submitters ⚠
- p.Met315Val Multiple submitters ⚠
- p.Met415Ile Multiple submitters SRP72-related disorder ⚠
- p.Met512Ile Multiple submitters
- p.Met512Leu Multiple submitters ⚠
- p.Met512Thr Multiple submitters ⚠
- p.Met580Thr Multiple submitters ⚠
- p.Phe364Cys Multiple submitters ⚠
- p.Phe456Leu Multiple submitters ⚠
- p.Phe61Cys Multiple submitters ⚠
- p.Pro166Ser Multiple submitters ⚠
- p.Pro257Arg Multiple submitters autosomal dominant aplasia and myelodysplasia ⚠
- p.Pro340Leu Multiple submitters ⚠
- p.Pro441Ser Multiple submitters ⚠
- p.Pro444del Multiple submitters
- p.Pro444Leu Multiple submitters ⚠
- p.Pro444Ser Multiple submitters ⚠
- p.Pro622Leu Multiple submitters ⚠
- p.Pro626Ala Multiple submitters ⚠
- p.Pro644Ala Multiple submitters ⚠
- p.Pro644Leu Multiple submitters ⚠
- p.Pro644Ser Multiple submitters ⚠
- p.Pro649Ser Multiple submitters
- p.Ser103Asn Multiple submitters autosomal dominant aplasia and myelodysplasia ⚠
- p.Ser10Leu Multiple submitters autosomal dominant aplasia and myelodysplasia ⚠
- p.Ser16Arg Multiple submitters ⚠
- p.Ser209Leu Multiple submitters ⚠
- p.Ser329Asn Multiple submitters ⚠
- p.Ser329Gly Multiple submitters ⚠
- p.Ser332Cys Multiple submitters SRP72-related disorder ⚠
- p.Ser417Asn Multiple submitters ⚠
- p.Ser443Phe Multiple submitters
- p.Ser448Pro Multiple submitters ⚠
- p.Ser508Leu Multiple submitters ⚠
- p.Ser511Cys Multiple submitters ⚠
- p.Ser60Gly Multiple submitters ⚠
- p.Thr175Arg Multiple submitters ⚠
- p.Thr242Ala Multiple submitters ⚠
- p.Thr28Lys Multiple submitters ⚠
- p.Thr355Arg Multiple submitters ⚠
- p.Thr483Asn Multiple submitters autosomal dominant aplasia and myelodysplasia
- p.Thr528Ala Multiple submitters ⚠
- p.Thr528Arg Multiple submitters
- p.Thr624Ala Multiple submitters ⚠
- p.Thr624Ile Multiple submitters
- p.Tyr249Cys Multiple submitters ⚠
- p.Tyr416Cys Multiple submitters ⚠
- p.Tyr436Phe Multiple submitters ⚠
- p.Tyr460Cys Multiple submitters ⚠
- p.Tyr491His Multiple submitters ⚠
- p.Tyr585His Multiple submitters ⚠
- p.Val118Met Multiple submitters ⚠
- p.Val131Ala Multiple submitters ⚠
- p.Val155Ile Multiple submitters ⚠
- p.Val164fs Multiple submitters
- p.Val165Ala Multiple submitters ⚠
- p.Val260Met Multiple submitters ⚠
- p.Val279Ile Multiple submitters ⚠
- p.Val294Gly Multiple submitters ⚠
- p.Val409Ile Multiple submitters ⚠
- p.Val428Phe Multiple submitters autosomal dominant aplasia and myelodysplasia ⚠
- p.Val45Leu Multiple submitters ⚠
- p.Val494Ile Multiple submitters ⚠
- p.Val518Ile Multiple submitters ⚠
- p.Val634Leu Multiple submitters autosomal dominant aplasia and myelodysplasia ⚠
- p.Val9fs Multiple submitters autosomal dominant aplasia and myelodysplasia
- c.1086+1G>A Single submitter
- c.1086+3A>G Single submitter
- c.109+2T>A Single submitter
- c.109+2T>G Single submitter
- c.110-2A>G Single submitter
- c.1159+6A>G Single submitter
- c.1160-15_1160-12del Single submitter
- c.1225-2A>G Single submitter
- c.1424+14C>G Single submitter
- c.1424+15_1424+16delinsTA Single submitter
- c.1425-3T>C Single submitter
- c.1502+9T>C Single submitter
- c.1503-4A>G Single submitter
- c.1503-6T>C Single submitter
- c.1679-3C>T Single submitter
- c.230+6T>C Single submitter
- c.231-3C>T Single submitter
- c.231-5_231-3del Single submitter
- c.354+6T>G Single submitter
- c.498+1G>A Single submitter
- c.498+6T>C Single submitter
- c.499-3C>T Single submitter
- c.611-15A>G Single submitter
- c.642+1_642+2del Single submitter
- c.643-5C>T Single submitter
- c.766_767+2del Single submitter
- c.767+1G>A Single submitter
- c.957+1G>C Single submitter
- c.958-13G>A Single submitter
- c.*1018A>G Single submitter
- c.*1241C>T Single submitter autosomal dominant aplasia and myelodysplasia
- c.*1385A>G Single submitter autosomal dominant aplasia and myelodysplasia
- c.*142A>G Single submitter autosomal dominant aplasia and myelodysplasia
- c.*1478C>A Single submitter autosomal dominant aplasia and myelodysplasia
- c.*1483A>G Single submitter autosomal dominant aplasia and myelodysplasia
- c.*1678C>T Single submitter autosomal dominant aplasia and myelodysplasia
- c.*1764A>G Single submitter autosomal dominant aplasia and myelodysplasia
- c.*1769T>G Single submitter autosomal dominant aplasia and myelodysplasia
- c.*194G>A Single submitter autosomal dominant aplasia and myelodysplasia
- c.*221A>G Single submitter autosomal dominant aplasia and myelodysplasia
- c.*227G>A Single submitter autosomal dominant aplasia and myelodysplasia
- c.*321A>G Single submitter autosomal dominant aplasia and myelodysplasia
- c.*407T>C Single submitter autosomal dominant aplasia and myelodysplasia
- c.*473G>A Single submitter autosomal dominant aplasia and myelodysplasia
- c.*505C>T Single submitter autosomal dominant aplasia and myelodysplasia
- c.*606A>T Single submitter autosomal dominant aplasia and myelodysplasia
- c.*622G>A Single submitter autosomal dominant aplasia and myelodysplasia
- c.*624A>G Single submitter autosomal dominant aplasia and myelodysplasia
- c.*633T>C Single submitter autosomal dominant aplasia and myelodysplasia
- c.*635C>T Single submitter autosomal dominant aplasia and myelodysplasia
- c.*637TA[7] Single submitter
- c.*637TA[9] Single submitter
- c.*839T>C Single submitter autosomal dominant aplasia and myelodysplasia
- p.Ala104Val Single submitter ⚠
- p.Ala130Gly Single submitter ⚠
- p.Ala130Val Single submitter ⚠
- p.Ala13Gly Single submitter ⚠
- p.Ala13Val Single submitter ⚠
- p.Ala156Pro Single submitter ⚠
- p.Ala202Gly Single submitter ⚠
- p.Ala223Thr Single submitter ⚠
- p.Ala223Val Single submitter ⚠
- p.Ala226Ser Single submitter ⚠
- p.Ala245Thr Single submitter ⚠
- p.Ala264Gly Single submitter ⚠
- p.Ala267Val Single submitter ⚠
- p.Ala291Glu Single submitter ⚠
- p.Ala291Thr Single submitter ⚠
- p.Ala305Val Single submitter ⚠
- p.Ala30Gly Single submitter ⚠
- p.Ala30Thr Single submitter ⚠
- p.Ala311Val Single submitter ⚠
- p.Ala320Val Single submitter ⚠
- p.Ala328Ser Single submitter ⚠
- p.Ala346Thr Single submitter ⚠
- p.Ala357Gly Single submitter ⚠
- p.Ala357Thr Single submitter ⚠
- p.Ala357Val Single submitter ⚠
- p.Ala380Thr Single submitter autosomal dominant aplasia and myelodysplasia