ACTN4 — 530 ClinVar variants

All ClinVar germline ACTN4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 198 flagged for review →

6 Pathogenic · 13 Likely pathogenic · 27 Conflicting · 47 Benign · 33 Benign/Likely benign · 174 Likely benign · 230 Uncertain significance

Full ACTN4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 198

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 13

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

ACTN4 p.Ala22Val Conflicting Single submitter
Inborn genetic diseases
ACTN4 p.Ala427Thr Conflicting Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Ala772Val Conflicting Single submitter
focal segmental glomerulosclerosis
ACTN4 p.Asp412Glu Conflicting Single submitter
Inborn genetic diseases
ACTN4 p.Asp571Gly Conflicting Single submitter
Inborn genetic diseases
ACTN4 p.Gln392Glu Conflicting Single submitter
focal segmental glomerulosclerosis
ACTN4 p.Ile71Met Conflicting Single submitter
Inborn genetic diseases
ACTN4 p.Ser263Arg Conflicting Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Ser447Leu Conflicting Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Ser900Thr Conflicting Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Thr443Met Conflicting Single submitter
Inborn genetic diseases
ACTN4 p.Thr903Met Conflicting Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Val892Met Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 129

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

ACTN4 p.Ala475Thr Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 1
ACTN4 p.Ala784Val Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 1
ACTN4 p.Ala881Thr Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 1
ACTN4 p.Arg439Gln Uncertain significance Multiple submitters
ACTN4 p.Arg536His Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 1
ACTN4 p.Arg805Gln Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 1
ACTN4 p.Arg868Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ACTN4 p.Arg882His Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 1
ACTN4 p.Arg95Trp Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 1
ACTN4 p.Asn356Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ACTN4 p.Asn385Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ACTN4 p.Asn490Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ACTN4 p.Asp804Asn Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 1
ACTN4 p.Glu349Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ACTN4 p.Glu376Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ACTN4 p.Glu426Lys Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 1
ACTN4 p.Gly506Ser Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 1
ACTN4 p.His266Arg Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 1
ACTN4 p.Ile590Val Uncertain significance Multiple submitters
Inborn genetic diseases
ACTN4 p.Thr57Met Uncertain significance Multiple submitters
Inborn genetic diseases
ACTN4 p.Trp623Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ACTN4 p.Val614Ile Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 1
ACTN4 p.Val698Met Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 1
ACTN4 p.Ala139Thr Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Ala267Gly Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Ala278Thr Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Ala434Thr Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Ala465Val Uncertain significance Single submitter
ACTN4 p.Ala504Thr Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Ala534Thr Uncertain significance Single submitter
ACTN4 p.Ala547Thr Uncertain significance Single submitter
ACTN4 p.Ala580Thr Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Ala586Ser Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Ala598Ser Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Ala850Thr Uncertain significance Single submitter
ACTN4 p.Ala864Thr Uncertain significance Single submitter
ACTN4 p.Ala884Val Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Arg105Lys Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Arg204Trp Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Arg251Trp Uncertain significance Single submitter
ACTN4 p.Arg339Trp Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Arg369Trp Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Arg406Cys Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Arg512Leu Uncertain significance Single submitter
ACTN4 p.Arg536Cys Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Arg633Trp Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Arg651Cys Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Arg695His Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Arg745Cys Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Arg79Gln Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Arg837Trp Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Arg882Cys Uncertain significance Single submitter
ACTN4 p.Asn225Lys Uncertain significance Single submitter
ACTN4 p.Asn288Thr Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Asn492His Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Asp213Gly Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Asp30Asn Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Asp337Asn Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Asp382Asn Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Asp758Asn Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Asp819Asn Uncertain significance Single submitter
ACTN4 p.Asp841Asn Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Asp846Ala Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Asp910Tyr Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Gln326Glu Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Gln472Arg Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Gln641His Uncertain significance Single submitter
ACTN4 p.Gln692Arg Uncertain significance Single submitter
ACTN4 p.Gln692Glu Uncertain significance Single submitter
ACTN4 p.Gln692Leu Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Gln9Glu Uncertain significance Single submitter
ACTN4 p.Glu211Lys Uncertain significance Single submitter
ACTN4 p.Glu457Lys Uncertain significance Single submitter
ACTN4 p.Glu479Lys Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Glu585Lys Uncertain significance Single submitter
ACTN4 p.Glu670Val Uncertain significance Single submitter
ACTN4 p.Gly21Asp Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Gly681Arg Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Gly735Val Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Gly81Arg Uncertain significance Single submitter
ACTN4 p.Gly888Cys Uncertain significance Single submitter
ACTN4 p.His456Gln Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.His510Arg Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.His5Tyr Uncertain significance Single submitter
ACTN4 p.His635Asp Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.His649Tyr Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.His776Gln Uncertain significance Single submitter
ACTN4 p.Ile119Thr Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Ile158Thr Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Ile246Leu Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Ile257Arg Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Ile383Met Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Ile597Val Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Ile603Ser Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Ile619Val Uncertain significance Single submitter
ACTN4 p.Ile677Leu Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Ile880Val Uncertain significance Single submitter
ACTN4 p.Leu215Gln Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Leu64Val Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Leu713Phe Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Lys214Thr Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Lys497Thr Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Lys518Glu Uncertain significance Single submitter
ACTN4 p.Lys592Arg Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Lys625Thr Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Lys899Gln Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Lys98Arg Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Lys98Glu Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Met240Thr Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Met28Thr Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Met883Val Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Phe153Leu Uncertain significance Single submitter
focal segmental glomerulosclerosis
ACTN4 p.Phe901Leu Uncertain significance Single submitter
ACTN4 p.Pro179Gln Uncertain significance Single submitter
ACTN4 p.Pro370Thr Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Pro873Ala Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Ser164Leu Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Ser656Thr Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Ser696Thr Uncertain significance Single submitter
ACTN4 p.Thr222Ser Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Thr359Met Uncertain significance Single submitter
ACTN4 p.Thr519Ser Uncertain significance Single submitter
ACTN4 p.Thr682Ile Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Thr827Ser Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Thr844Ser Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Trp192Arg Uncertain significance Single submitter
ACTN4 p.Tyr265His Uncertain significance Single submitter
ACTN4 p.Val247Met Uncertain significance Single submitter
ACTN4 p.Arg336His Uncertain significance No assertion criteria
ACTN4-related disorder

Predictors split 56

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

ACTN4 p.Arg310Trp Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 1
ACTN4 p.Arg311Cys Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 1
ACTN4 p.Arg311His Uncertain significance Multiple submitters
Inborn genetic diseases
ACTN4 p.Arg340Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ACTN4 p.Arg439Trp Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 1
ACTN4 p.Arg584Cys Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 1
ACTN4 p.Arg652Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ACTN4 p.Arg695Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ACTN4 p.Asp874Asn Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 1
ACTN4 p.Gly19Cys Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 1
ACTN4 p.Gly824Ser Uncertain significance Multiple submitters
focal segmental glomerulosclerosis 1
ACTN4 p.Ile129Val Uncertain significance Multiple submitters
Inborn genetic diseases
ACTN4 p.Lys166Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ACTN4 p.Thr559Ala Likely benign Multiple submitters
Inborn genetic diseases
ACTN4 p.Ala115Thr Uncertain significance Single submitter
ACTN4 p.Ala274Val Uncertain significance Single submitter
ACTN4 p.Ala744Val Uncertain significance Single submitter
ACTN4 p.Ala792Thr Uncertain significance Single submitter
ACTN4 p.Ala891Thr Conflicting Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Arg251Gln Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Arg410Gln Likely benign Single submitter
focal segmental glomerulosclerosis
ACTN4 p.Arg494Gln Uncertain significance Single submitter
ACTN4 p.Arg584His Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Arg745His Uncertain significance Single submitter
ACTN4 p.Arg771Gln Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Arg805Trp Likely benign Single submitter
Inborn genetic diseases
ACTN4 p.Arg837Gln Uncertain significance Single submitter
ACTN4 p.Arg868Trp Uncertain significance Single submitter
ACTN4 p.Asn226Ser Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Asn279Ser Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Asn490Asp Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Asn659Ser Likely benign Single submitter
ACTN4 p.Asn722Ser Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Asn860Tyr Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Asp487Asn Uncertain significance Single submitter
ACTN4 p.Asp721Asn Uncertain significance Single submitter
ACTN4 p.Asp833Asn Uncertain significance Single submitter
ACTN4 p.Asp858Asn Uncertain significance Single submitter
ACTN4 p.Glu442Lys Likely benign Single submitter
ACTN4 p.Glu72Gln Likely pathogenic Single submitter
ACTN4 p.Gly137Ser Conflicting Single submitter
Inborn genetic diseases
ACTN4 p.Gly431Glu Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Gly894Ser Conflicting Single submitter
focal segmental glomerulosclerosis
ACTN4 p.Ile149Val Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Ile556Val Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Ile563Thr Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Ile754Val Likely benign Single submitter
ACTN4 p.Leu683Val Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Met435Thr Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Pro578Leu Conflicting Single submitter
Inborn genetic diseases
ACTN4 p.Pro616Leu Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Pro893Leu Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Ser836Leu Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Thr519Ile Uncertain significance Single submitter
Inborn genetic diseases
ACTN4 p.Thr839Asn Uncertain significance Single submitter
focal segmental glomerulosclerosis 1
ACTN4 p.Val557Ile Uncertain significance Single submitter
Inborn genetic diseases

All ACTN4 variants

Pathogenic 6

p.Lys255Glu Multiple submitters focal segmental glomerulosclerosis 1
p.Gly195Val Single submitter focal segmental glomerulosclerosis 1
p.Ile150del Single submitter
p.Thr259Ile Single submitter focal segmental glomerulosclerosis 1
p.Gly195Asp No assertion criteria focal segmental glomerulosclerosis 1
p.Ser262Pro No assertion criteria focal segmental glomerulosclerosis 1

Likely pathogenic 13

c.2338-5G>A Single submitter focal segmental glomerulosclerosis 1
p.Ala165Thr Single submitter focal segmental glomerulosclerosis 1
p.Ala165Val Single submitter ACTN4-related disorder
p.Asp253Asn Single submitter focal segmental glomerulosclerosis 1
p.Cys173Arg Single submitter focal segmental glomerulosclerosis 1
p.Glu72Gln Single submitter ⚠
p.Met240Val Single submitter focal segmental glomerulosclerosis 1
p.Met258Thr Single submitter focal segmental glomerulosclerosis 1
p.Trp59Arg Single submitter focal segmental glomerulosclerosis 1
p.His203Pro No assertion criteria ACTN4-related disorder
p.Leu169Arg No assertion criteria ACTN4-related disorder
p.Leu171del No assertion criteria focal segmental glomerulosclerosis 1
p.Phe153Ser No assertion criteria focal segmental glomerulosclerosis 1

Conflicting classifications of pathogenicity 27

c.1144-11C>A Single submitter
c.1291+4C>T Single submitter focal segmental glomerulosclerosis 1
c.1443-4G>A Single submitter kidney disorder
c.1552-20C>G Single submitter focal segmental glomerulosclerosis 1
c.163-9C>T Single submitter focal segmental glomerulosclerosis 1
p.Ala22Val Single submitter Inborn genetic diseases ⚠
p.Ala427Thr Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Ala474= Single submitter focal segmental glomerulosclerosis 1
p.Ala772Val Single submitter focal segmental glomerulosclerosis ⚠
p.Ala891Thr Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Asp412Glu Single submitter Inborn genetic diseases ⚠
p.Asp571Gly Single submitter Inborn genetic diseases ⚠
p.Gln392Glu Single submitter focal segmental glomerulosclerosis ⚠
p.Gly102= Single submitter focal segmental glomerulosclerosis 1
p.Gly137Ser Single submitter Inborn genetic diseases ⚠
p.Gly894Ser Single submitter focal segmental glomerulosclerosis ⚠
p.Ile71Met Single submitter Inborn genetic diseases ⚠
p.Pro578Leu Single submitter Inborn genetic diseases ⚠
p.Ser191= Single submitter focal segmental glomerulosclerosis 1
p.Ser263Arg Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Ser447Leu Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Ser900Thr Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Ser909= Single submitter
p.Thr443Met Single submitter Inborn genetic diseases ⚠
p.Thr840= Single submitter focal segmental glomerulosclerosis 1
p.Thr903Met Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Val892Met Single submitter Inborn genetic diseases ⚠

Benign 47

c.1291+81C>T Multiple submitters focal segmental glomerulosclerosis 1
c.1292-126T>C Multiple submitters
c.1442+64C>T Multiple submitters focal segmental glomerulosclerosis 1
c.1442+72C>T Multiple submitters focal segmental glomerulosclerosis 1
c.1551+49C>T Multiple submitters focal segmental glomerulosclerosis 1
c.162+61T>C Multiple submitters focal segmental glomerulosclerosis 1
c.2010+128C>T Multiple submitters
c.2191-90G>A Multiple submitters
c.2418+11C>T Multiple submitters
c.2418+28A>G Multiple submitters focal segmental glomerulosclerosis 1
c.2419-76G>T Multiple submitters
c.277+29G>C Multiple submitters focal segmental glomerulosclerosis 1
c.278-98G>A Multiple submitters focal segmental glomerulosclerosis 1
c.652-34G>T Multiple submitters focal segmental glomerulosclerosis 1
c.652-37G>A Multiple submitters focal segmental glomerulosclerosis 1
c.652-55G>T Multiple submitters focal segmental glomerulosclerosis 1
c.734-54C>T Multiple submitters focal segmental glomerulosclerosis 1
c.820-94C>T Multiple submitters focal segmental glomerulosclerosis 1
p.Asn182= Multiple submitters focal segmental glomerulosclerosis 1
p.Asn659= Multiple submitters focal segmental glomerulosclerosis 1
p.Asp890Glu Multiple submitters focal segmental glomerulosclerosis 1
p.Ile246= Multiple submitters focal segmental glomerulosclerosis 1
p.Leu855= Multiple submitters focal segmental glomerulosclerosis 1
p.Pro179= Multiple submitters focal segmental glomerulosclerosis 1
c.2011-161T>C Single submitter
c.2011-173G>A Single submitter
c.2338-191A>C Single submitter
c.2338-192A>G Single submitter
c.2418+16C>T Single submitter
c.2419-16del Single submitter
c.278-12T>G Single submitter
c.398-15dup Single submitter
c.398-260T>G Single submitter
c.398-271_398-268del Single submitter
c.485-153C>T Single submitter
c.572+11G>A Single submitter
c.652-199G>A Single submitter
c.819+1074C>T Single submitter
c.819+292C>G Single submitter
c.820-128T>A Single submitter
c.820-148G>T Single submitter
c.820-263G>A Single submitter
c.820-264C>T Single submitter
c.913-227_913-226del Single submitter
p.Ile697= Single submitter
p.Ser159= Single submitter
p.Thr359= Single submitter

Benign/Likely benign 33

c.162+6C>T Multiple submitters
c.1692+10C>G Multiple submitters focal segmental glomerulosclerosis 1
c.2010+9C>T Multiple submitters focal segmental glomerulosclerosis
c.2011-4G>A Multiple submitters focal segmental glomerulosclerosis 1
c.2011-5C>T Multiple submitters focal segmental glomerulosclerosis 1
c.2190+4C>T Multiple submitters
c.2191-5C>T Multiple submitters focal segmental glomerulosclerosis 1
c.398-16C>T Multiple submitters focal segmental glomerulosclerosis 1
c.484+75C>T Multiple submitters focal segmental glomerulosclerosis 1
p.Ala475= Multiple submitters focal segmental glomerulosclerosis 1
p.Ala537= Multiple submitters focal segmental glomerulosclerosis 1
p.Ala772= Multiple submitters focal segmental glomerulosclerosis 1
p.Ala884= Multiple submitters focal segmental glomerulosclerosis 1
p.Arg310Gln Multiple submitters focal segmental glomerulosclerosis
p.Arg406= Multiple submitters focal segmental glomerulosclerosis 1
p.Arg536= Multiple submitters focal segmental glomerulosclerosis 1
p.Asp430= Multiple submitters
p.Asp634= Multiple submitters focal segmental glomerulosclerosis 1
p.Asp800= Multiple submitters focal segmental glomerulosclerosis
p.Gln326= Multiple submitters kidney disorder
p.Gln666= Multiple submitters focal segmental glomerulosclerosis
p.Gly123= Multiple submitters focal segmental glomerulosclerosis
p.Ile590= Multiple submitters focal segmental glomerulosclerosis
p.Ile672= Multiple submitters focal segmental glomerulosclerosis 1
p.Leu505= Multiple submitters focal segmental glomerulosclerosis 1
p.Leu82= Multiple submitters focal segmental glomerulosclerosis
p.Pro179Leu Multiple submitters focal segmental glomerulosclerosis 1
p.Pro578= Multiple submitters
p.Pro893= Multiple submitters kidney disorder
p.Pro99= Multiple submitters Inborn genetic diseases
p.Ser447= Multiple submitters focal segmental glomerulosclerosis 1
p.Tyr298= Multiple submitters focal segmental glomerulosclerosis 1
p.Val801Met Multiple submitters focal segmental glomerulosclerosis 1

Likely benign 174

c.1692+14G>A Multiple submitters
c.2191-4G>A Multiple submitters focal segmental glomerulosclerosis 1
c.2419-14C>T Multiple submitters
c.2577+17C>T Multiple submitters
c.484+135G>A Multiple submitters
c.484+25G>A Multiple submitters
c.819+980C>T Multiple submitters
p.Ala891= Multiple submitters focal segmental glomerulosclerosis 1
p.Asp80= Multiple submitters focal segmental glomerulosclerosis 1
p.His602= Multiple submitters focal segmental glomerulosclerosis 1
p.Ile560= Multiple submitters focal segmental glomerulosclerosis 1
p.Leu446= Multiple submitters
p.Leu896= Multiple submitters
p.Pro872= Multiple submitters focal segmental glomerulosclerosis 1
p.Ser823= Multiple submitters focal segmental glomerulosclerosis 1
p.Ser836= Multiple submitters focal segmental glomerulosclerosis 1
p.Thr559Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr842= Multiple submitters focal segmental glomerulosclerosis 1
p.Tyr486= Multiple submitters focal segmental glomerulosclerosis 1
c.1143+19A>G Single submitter
c.1143+257G>C Single submitter
c.1291+21_1291+35dup Single submitter
c.1292-16T>C Single submitter
c.1292-19G>A Single submitter
c.1292-20C>T Single submitter
c.1442+13T>C Single submitter
c.1442+65G>A Single submitter
c.1442+9G>A Single submitter
c.1443-10C>T Single submitter
c.1443-20G>A Single submitter
c.1443-4G>T Single submitter
c.1551+17A>G Single submitter
c.1552-20C>A Single submitter
c.162+11del Single submitter
c.162+12G>A Single submitter
c.162+18del Single submitter
c.162+33G>A Single submitter
c.163-189C>T Single submitter
c.163-5C>A Single submitter
c.1875+18G>A Single submitter
c.1876-16G>A Single submitter
c.2010+10G>A Single submitter
c.2011-13C>T Single submitter
c.2011-20G>A Single submitter
c.2190+14C>T Single submitter
c.2190+15C>T Single submitter
c.2190+16G>A Single submitter
c.2190+20G>A Single submitter
c.2190+20G>C Single submitter
c.2190+246A>G Single submitter
c.2190+306G>A Single submitter
c.2191-18G>A Single submitter
c.2191-19C>T Single submitter
c.2337+8G>T Single submitter
c.2338-16C>T Single submitter
c.2338-6C>T Single submitter
c.2338-7C>T Single submitter
c.2338-8C>T Single submitter
c.2418+15G>T Single submitter
c.2419-17C>T Single submitter
c.2577+18G>A Single submitter
c.2577+7G>A Single submitter
c.2578-5C>T Single submitter
c.277+17C>T Single submitter
c.277+20A>G Single submitter
c.398-4G>A Single submitter
c.484+12C>T Single submitter
c.484+46G>A Single submitter Inborn genetic diseases
c.485-14T>A Single submitter
c.572+7G>A Single submitter
c.652-10C>A Single submitter
c.652-162C>G Single submitter
c.652-286del Single submitter
c.734-15G>C Single submitter
c.734-8A>C Single submitter
c.819+1007G>A Single submitter
c.819+1028G>A Single submitter
c.819+17G>A Single submitter
c.819+18G>A Single submitter
c.819+41C>T Single submitter
c.819+915TC[5] Single submitter
c.820-16G>C Single submitter
c.820-198G>A Single submitter
c.912+153C>T Single submitter
c.913-144G>C Single submitter
c.913-14T>C Single submitter
c.913-16C>G Single submitter
p.Ala274= Single submitter
p.Ala477= Single submitter
p.Ala580= Single submitter
p.Ala717= Single submitter
p.Ala784= Single submitter
p.Ala809= Single submitter
p.Arg280= Single submitter
p.Arg365= Single submitter
p.Arg410Gln Single submitter focal segmental glomerulosclerosis ⚠
p.Arg469= Single submitter
p.Arg745= Single submitter
p.Arg757= Single submitter
p.Arg805Trp Single submitter Inborn genetic diseases ⚠
p.Asn138= Single submitter
p.Asn20Ser Single submitter Inborn genetic diseases
p.Asn291= Single submitter
p.Asn481= Single submitter Inborn genetic diseases
p.Asn659Ser Single submitter ⚠
p.Asp253= Single submitter
p.Asp503= Single submitter
p.Asp579= Single submitter
p.Asp843= Single submitter
p.Asp890= Single submitter
p.Cys879= Single submitter
p.Glu296= Single submitter
p.Glu442Lys Single submitter ⚠
p.Glu678= Single submitter
p.Glu749= Single submitter
p.Glu802= Single submitter
p.Gly506= Single submitter
p.Gly783Arg Single submitter
p.Gly857= Single submitter
p.Gly907= Single submitter
p.His530Gln Single submitter focal segmental glomerulosclerosis 1
p.Ile556= Single submitter
p.Ile597= Single submitter
p.Ile719= Single submitter
p.Ile754Val Single submitter ⚠
p.Leu116= Single submitter
p.Leu143= Single submitter
p.Leu224= Single submitter
p.Leu353= Single submitter
p.Leu577= Single submitter
p.Leu739= Single submitter
p.Leu755= Single submitter
p.Leu867= Single submitter
p.Leu87= Single submitter
p.Leu905= Single submitter
p.Leu96= Single submitter
p.Lys760= Single submitter
p.Lys791= Single submitter
p.Phe153= Single submitter
p.Phe228= Single submitter
p.Phe459= Single submitter
p.Phe654= Single submitter
p.Phe654Leu Single submitter Inborn genetic diseases
p.Phe720= Single submitter
p.Pro238= Single submitter
p.Ser164= Single submitter
p.Ser263= Single submitter
p.Ser488= Single submitter
p.Ser546= Single submitter
p.Ser606= Single submitter
p.Ser823Gly Single submitter
p.Ser902= Single submitter
p.Thr493= Single submitter
p.Thr55= Single submitter
p.Thr559= Single submitter
p.Thr615= Single submitter
p.Tyr693= Single submitter
c.2338-4G>C No assertion criteria ACTN4-related disorder
c.819+930G>A No assertion criteria ACTN4-related disorder
c.819+9C>G No assertion criteria ACTN4-related disorder
c.912+6T>A No assertion criteria ACTN4-related disorder
c.-39G>T No assertion criteria ACTN4-related disorder
c.-43A>G No assertion criteria ACTN4-related disorder
p.Ala271= No assertion criteria ACTN4-related disorder
p.Arg339= No assertion criteria ACTN4-related disorder
p.Asn752= No assertion criteria ACTN4-related disorder
p.Gln388= No assertion criteria ACTN4-related disorder
p.Glu877= No assertion criteria ACTN4-related disorder
p.His425= No assertion criteria ACTN4-related disorder
p.Ile880= No assertion criteria ACTN4-related disorder
p.Leu294= No assertion criteria ACTN4-related disorder
p.Leu366= No assertion criteria ACTN4-related disorder
p.Pro616= No assertion criteria ACTN4-related disorder
p.Thr249= No assertion criteria ACTN4-related disorder

Uncertain significance 230

c.1443-7C>T Multiple submitters focal segmental glomerulosclerosis 1
c.2190+5G>A Multiple submitters focal segmental glomerulosclerosis 1
c.2190+6C>T Multiple submitters focal segmental glomerulosclerosis 1
p.Ala475Thr Multiple submitters focal segmental glomerulosclerosis 1 ⚠
p.Ala759Thr Multiple submitters focal segmental glomerulosclerosis 1
p.Ala784Val Multiple submitters focal segmental glomerulosclerosis 1 ⚠
p.Ala881Thr Multiple submitters focal segmental glomerulosclerosis 1 ⚠
p.Arg310Trp Multiple submitters focal segmental glomerulosclerosis 1 ⚠
p.Arg311Cys Multiple submitters focal segmental glomerulosclerosis 1 ⚠
p.Arg311His Multiple submitters Inborn genetic diseases ⚠
p.Arg340Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg439Gln Multiple submitters ⚠
p.Arg439Trp Multiple submitters focal segmental glomerulosclerosis 1 ⚠
p.Arg536His Multiple submitters focal segmental glomerulosclerosis 1 ⚠
p.Arg584Cys Multiple submitters focal segmental glomerulosclerosis 1 ⚠
p.Arg652Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg695Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg805Gln Multiple submitters focal segmental glomerulosclerosis 1 ⚠
p.Arg868Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg882His Multiple submitters focal segmental glomerulosclerosis 1 ⚠
p.Arg95Trp Multiple submitters focal segmental glomerulosclerosis 1 ⚠
p.Asn184Ser Multiple submitters
p.Asn356Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn385Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn490Ser Multiple submitters Inborn genetic diseases ⚠
p.Asp219Asn Multiple submitters Inborn genetic diseases
p.Asp804Asn Multiple submitters focal segmental glomerulosclerosis 1 ⚠
p.Asp874Asn Multiple submitters focal segmental glomerulosclerosis 1 ⚠
p.Glu349Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu376Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu426Lys Multiple submitters focal segmental glomerulosclerosis 1 ⚠
p.Gly19Cys Multiple submitters focal segmental glomerulosclerosis 1 ⚠
p.Gly506Ser Multiple submitters focal segmental glomerulosclerosis 1 ⚠
p.Gly824Ser Multiple submitters focal segmental glomerulosclerosis 1 ⚠
p.His266Arg Multiple submitters focal segmental glomerulosclerosis 1 ⚠
p.Ile129Val Multiple submitters Inborn genetic diseases ⚠
p.Ile246Met Multiple submitters
p.Ile590Val Multiple submitters Inborn genetic diseases ⚠
p.Lys166Arg Multiple submitters Inborn genetic diseases ⚠
p.Thr57Met Multiple submitters Inborn genetic diseases ⚠
p.Trp623Leu Multiple submitters Inborn genetic diseases ⚠
p.Val614Ile Multiple submitters focal segmental glomerulosclerosis 1 ⚠
p.Val698Met Multiple submitters focal segmental glomerulosclerosis 1 ⚠
c.1291+18_1291+19insACACTCTGCCCAGCCCCGCC Single submitter focal segmental glomerulosclerosis 1
c.1291+5G>A Single submitter
c.1442+12C>T Single submitter focal segmental glomerulosclerosis 1
c.1442+4C>T Single submitter
c.1442+8C>T Single submitter focal segmental glomerulosclerosis 1
c.1692+4C>T Single submitter
c.1875+3G>A Single submitter
c.1875+7_1875+25del Single submitter focal segmental glomerulosclerosis 1
c.2191-3C>T Single submitter
c.2338-3C>T Single submitter focal segmental glomerulosclerosis
c.2419-1G>A Single submitter
c.2577+5G>A Single submitter focal segmental glomerulosclerosis 1
c.2577+6C>T Single submitter
c.2578-7_2578-4dup Single submitter focal segmental glomerulosclerosis 1
c.395_397+20dup Single submitter
c.397+5G>A Single submitter focal segmental glomerulosclerosis 1
c.398-11C>T Single submitter focal segmental glomerulosclerosis 1
c.572+17G>A Single submitter
c.572+5G>T Single submitter focal segmental glomerulosclerosis 1
c.651+5G>A Single submitter focal segmental glomerulosclerosis 1
c.652-3T>C Single submitter
c.819+5C>T Single submitter
c.819+6G>A Single submitter focal segmental glomerulosclerosis 1
c.912+1G>A Single submitter
c.912+3G>A Single submitter
c.-18C>T Single submitter focal segmental glomerulosclerosis 1
c.-34C>T Single submitter focal segmental glomerulosclerosis 1
c.-5G>A Single submitter focal segmental glomerulosclerosis 1
p.Ala115Thr Single submitter ⚠
p.Ala139Thr Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Ala267Gly Single submitter Inborn genetic diseases ⚠
p.Ala274Val Single submitter ⚠
p.Ala278Thr Single submitter Inborn genetic diseases ⚠
p.Ala434Thr Single submitter Inborn genetic diseases ⚠
p.Ala465Val Single submitter ⚠
p.Ala504Thr Single submitter Inborn genetic diseases ⚠
p.Ala534Thr Single submitter ⚠
p.Ala547Thr Single submitter ⚠
p.Ala580Thr Single submitter Inborn genetic diseases ⚠
p.Ala586Ser Single submitter Inborn genetic diseases ⚠
p.Ala598Ser Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Ala744Val Single submitter ⚠
p.Ala792Thr Single submitter ⚠
p.Ala850Thr Single submitter ⚠
p.Ala864Thr Single submitter ⚠
p.Ala884Val Single submitter Inborn genetic diseases ⚠
p.Ala895Thr Single submitter
p.Arg105Lys Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Arg204Trp Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Arg251Gln Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Arg251Trp Single submitter ⚠
p.Arg339Trp Single submitter Inborn genetic diseases ⚠
p.Arg369Trp Single submitter Inborn genetic diseases ⚠
p.Arg406Cys Single submitter Inborn genetic diseases ⚠
p.Arg494Gln Single submitter ⚠
p.Arg512Leu Single submitter ⚠
p.Arg536Cys Single submitter Inborn genetic diseases ⚠
p.Arg584His Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Arg633Trp Single submitter Inborn genetic diseases ⚠
p.Arg651Cys Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Arg695His Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Arg745Cys Single submitter Inborn genetic diseases ⚠
p.Arg745His Single submitter ⚠
p.Arg771Gln Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Arg79Gln Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Arg837Gln Single submitter ⚠
p.Arg837Trp Single submitter Inborn genetic diseases ⚠
p.Arg868Trp Single submitter ⚠
p.Arg882Cys Single submitter ⚠
p.Asn225Lys Single submitter ⚠
p.Asn226Ser Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Asn279Ser Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Asn288Thr Single submitter Inborn genetic diseases ⚠
p.Asn490Asp Single submitter Inborn genetic diseases ⚠
p.Asn492His Single submitter Inborn genetic diseases ⚠
p.Asn722Ser Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Asn860Tyr Single submitter Inborn genetic diseases ⚠
p.Asp213Gly Single submitter Inborn genetic diseases ⚠
p.Asp304= Single submitter
p.Asp30Asn Single submitter Inborn genetic diseases ⚠
p.Asp337Asn Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Asp382Asn Single submitter Inborn genetic diseases ⚠
p.Asp448Tyr Single submitter focal segmental glomerulosclerosis 1
p.Asp487Asn Single submitter ⚠
p.Asp685Tyr Single submitter Inborn genetic diseases
p.Asp721Asn Single submitter ⚠
p.Asp758Asn Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Asp819Asn Single submitter ⚠
p.Asp833Asn Single submitter ⚠
p.Asp841Asn Single submitter Inborn genetic diseases ⚠
p.Asp846Ala Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Asp858Asn Single submitter ⚠
p.Asp910Tyr Single submitter Inborn genetic diseases ⚠
p.Gln326Glu Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Gln392Ter Single submitter
p.Gln472Arg Single submitter Inborn genetic diseases ⚠
p.Gln641His Single submitter ⚠
p.Gln692Arg Single submitter ⚠
p.Gln692Glu Single submitter ⚠
p.Gln692Leu Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Gln766Glu Single submitter focal segmental glomerulosclerosis 1
p.Gln9Glu Single submitter ⚠
p.Glu211Lys Single submitter ⚠
p.Glu349del Single submitter focal segmental glomerulosclerosis 1
p.Glu457Lys Single submitter ⚠
p.Glu479Lys Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Glu585Lys Single submitter ⚠
p.Glu670Val Single submitter ⚠
p.Glu788Lys Single submitter ACTN4-related disorder
p.Glu877Lys Single submitter
p.Gly21Asp Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Gly29_Asp30insSerMetGly Single submitter
p.Gly431Glu Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Gly681Arg Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Gly735= Single submitter focal segmental glomerulosclerosis 1
p.Gly735Val Single submitter Inborn genetic diseases ⚠
p.Gly81Arg Single submitter ⚠
p.Gly888Cys Single submitter ⚠
p.His205_Glu211del Single submitter
p.His456Gln Single submitter focal segmental glomerulosclerosis 1 ⚠
p.His510Arg Single submitter Inborn genetic diseases ⚠
p.His5Tyr Single submitter ⚠
p.His635Asp Single submitter Inborn genetic diseases ⚠
p.His649Tyr Single submitter Inborn genetic diseases ⚠
p.His711Tyr Single submitter focal segmental glomerulosclerosis 1
p.His776Gln Single submitter ⚠
p.Ile119Thr Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Ile149Val Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Ile158Thr Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Ile246Leu Single submitter Inborn genetic diseases ⚠
p.Ile257Arg Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Ile383Met Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Ile556Val Single submitter Inborn genetic diseases ⚠
p.Ile563Thr Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Ile597Val Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Ile603Ser Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Ile619Val Single submitter ⚠
p.Ile677Leu Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Ile880Val Single submitter ⚠
p.Leu215Gln Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Leu316= Single submitter focal segmental glomerulosclerosis 1
p.Leu64Val Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Leu683Val Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Leu713Phe Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Leu86Val Single submitter
p.Lys214Thr Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Lys497Thr Single submitter Inborn genetic diseases ⚠
p.Lys518Glu Single submitter ⚠
p.Lys592Arg Single submitter Inborn genetic diseases ⚠
p.Lys625Thr Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Lys899Gln Single submitter Inborn genetic diseases ⚠
p.Lys98Arg Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Lys98Glu Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Met240Thr Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Met28Thr Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Met435Thr Single submitter Inborn genetic diseases ⚠
p.Met883Val Single submitter Inborn genetic diseases ⚠
p.Phe153Leu Single submitter focal segmental glomerulosclerosis ⚠
p.Phe901Leu Single submitter ⚠
p.Pro179Gln Single submitter ⚠
p.Pro370Thr Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Pro616Leu Single submitter Inborn genetic diseases ⚠
p.Pro873Ala Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Pro893Leu Single submitter Inborn genetic diseases ⚠
p.Ser164Leu Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Ser191_Trp192delinsArg Single submitter
p.Ser303= Single submitter kidney disorder
p.Ser381= Single submitter
p.Ser656Thr Single submitter Inborn genetic diseases ⚠
p.Ser696Thr Single submitter ⚠
p.Ser836Leu Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Thr222Ser Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Thr359Met Single submitter ⚠
p.Thr519Ile Single submitter Inborn genetic diseases ⚠
p.Thr519Ser Single submitter ⚠
p.Thr682Ile Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Thr827Ser Single submitter Inborn genetic diseases ⚠
p.Thr839Asn Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Thr844Ser Single submitter focal segmental glomerulosclerosis 1 ⚠
p.Trp192Arg Single submitter ⚠
p.Tyr265His Single submitter ⚠
p.Val247Met Single submitter ⚠
p.Val557Ile Single submitter Inborn genetic diseases ⚠
c.819+981G>T No assertion criteria ACTN4-related disorder
p.Arg336His No assertion criteria ACTN4-related disorder ⚠
p.Asn609Ser No assertion criteria focal segmental glomerulosclerosis 1
p.Gln829= No assertion criteria