SMARCAL1 — 1290 ClinVar variants

All ClinVar germline SMARCAL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 390 flagged for review →

87 Pathogenic · 25 Pathogenic/Likely pathogenic · 53 Likely pathogenic · 68 Conflicting · 44 Benign · 14 Benign/Likely benign · 577 Likely benign · 422 Uncertain significance

Full SMARCAL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 390

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 29

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

SMARCAL1 p.Ala118Gly Conflicting Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ala150Ser Conflicting Single submitter
Inborn genetic diseases
SMARCAL1 p.Arg114Cys Conflicting Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg114Gly Conflicting Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg499Gln Conflicting Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg586Trp Conflicting Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg764Trp Conflicting Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg817Cys Conflicting Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg817His Conflicting Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Gly321Asp Conflicting Single submitter
Inborn genetic diseases
SMARCAL1 p.Gly321Ser Conflicting Single submitter
Inborn genetic diseases
SMARCAL1 p.Ile576Thr Conflicting Single submitter
Inborn genetic diseases
SMARCAL1 p.Ile741Val Conflicting Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Leu322His Conflicting Single submitter
focal segmental glomerulosclerosis
SMARCAL1 p.Lys189Glu Conflicting Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Lys881Gln Conflicting Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Lys99Arg Conflicting Single submitter
Inborn genetic diseases
SMARCAL1 p.Met566Val Conflicting Single submitter
Inborn genetic diseases
SMARCAL1 p.Met897Thr Conflicting Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Met922Thr Conflicting Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Phe279Ser Conflicting Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Phe357Ile Conflicting Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Phe801Val Conflicting Single submitter
osteosarcoma
SMARCAL1 p.Pro480Leu Conflicting Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ser309Asn Conflicting Single submitter
Inborn genetic diseases
SMARCAL1 p.Thr215Met Conflicting Single submitter
Inborn genetic diseases
SMARCAL1 p.Thr399Met Conflicting Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Thr705Ile Conflicting Single submitter
SMARCAL1-related disorder
SMARCAL1 p.Val242Ile Conflicting Single submitter
Schimke immuno-osseous dysplasia

Predictors lean, ClinVar uncertain 296

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 296

SMARCAL1 p.Ala127Pro Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ala256Val Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ala30Val Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Ala404Val Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ala588Pro Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ala588Ser Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ala588Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Ala665Ser Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ala786Thr Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg247Pro Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg387His Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg476Gln Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg490Cys Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg490His Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg518His Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg586Gln Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg672Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Asn255Ser Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Asp459Asn Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Asp623Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Asp649Glu Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Asp719Glu Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Asp756Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Asp797Asn Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Asp884Asn Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Asp896Ala Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Asp945Gly Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Gln183His Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Gln359Arg Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Gln653Arg Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Gln74Arg Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Glu142Asp Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Glu26Lys Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Glu317Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Glu898Lys Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Gly52Arg Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Gly809Arg Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Gly857Arg Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.His734Arg Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.His87Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Ile448Val Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Ile471Val Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ile548Val Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ile714Thr Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ile882Val Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Leu328Phe Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Leu535Val Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Lys169Arg Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Lys289Thr Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Lys534Asn Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Lys937Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Met584Val Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Phe553Ile Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Pro105Leu Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Pro109Ser Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Pro152Ser Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Pro185Ser Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Pro295Leu Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Pro666Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Ser200Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Ser37Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Ser774Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Ser825Gly Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ser912Leu Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Thr163Asn Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Thr163Ile Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Thr194Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Thr276Met Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Thr541Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Thr592Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Thr742Met Uncertain significance Multiple submitters
kidney disorder
SMARCAL1 p.Thr867Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Trp620Cys Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Tyr141Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Tyr872His Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Val242Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Val261Glu Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Val433Met Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Val65Met Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Val781Met Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Val799Met Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Ala107Thr Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ala148Val Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ala178Ser Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ala192Thr Uncertain significance Single submitter
Inborn genetic diseases
SMARCAL1 p.Ala320Val Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ala355Glu Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ala355Val Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ala43Val Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ala442Gly Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ala457Thr Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ala472Val Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ala607Thr Uncertain significance Single submitter
Inborn genetic diseases
SMARCAL1 p.Ala656Gly Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ala675Thr Uncertain significance Single submitter
Inborn genetic diseases
SMARCAL1 p.Ala778Asp Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ala778Gly Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ala778Thr Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ala780Thr Uncertain significance Single submitter
Inborn genetic diseases
SMARCAL1 p.Arg10Met Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg217Ser Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg221Ile Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg23Pro Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg370Ser Uncertain significance Single submitter
Inborn genetic diseases
SMARCAL1 p.Arg518Cys Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg558Lys Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg563Gln Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg59Thr Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg611Cys Uncertain significance Single submitter
SMARCAL1 p.Arg611His Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg617Gln Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg659Cys Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg659His Uncertain significance Single submitter
SMARCAL1 p.Arg672Gly Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg754Gly Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg776Gly Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg817Ser Uncertain significance Single submitter
SMARCAL1 p.Asn235Lys Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Asn255Asp Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Asn510Ser Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Asn670Ser Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Asn81Asp Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Asn946Lys Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Asn946Thr Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Asp83Asn Uncertain significance Single submitter
Inborn genetic diseases
SMARCAL1 p.Asp896Asn Uncertain significance Single submitter
Inborn genetic diseases
SMARCAL1 p.Cys108Arg Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Gln128Arg Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Gln128Glu Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Gln136Arg Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Gln174Arg Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Gln202Lys Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Gln223Pro Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Gln231His Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Gln237Lys Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Gln249Arg Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Gln495Pro Uncertain significance Single submitter
SMARCAL1 p.Gln55Lys Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Gln74Pro Uncertain significance Single submitter
Inborn genetic diseases
SMARCAL1 p.Gln769Arg Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Gln770Arg Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Gln84Arg Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Gln84Pro Uncertain significance Single submitter
Inborn genetic diseases
SMARCAL1 p.Glu142Lys Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Glu31Gly Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Glu31Lys Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Glu478Asp Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Glu478Gly Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Glu60Ala Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Glu928Lys Uncertain significance Single submitter
Schimke immuno-osseous dysplasia

Predictors split 65

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

SMARCAL1 p.Ala20Gly Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ala596Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Ala838Thr Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg17Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Arg645His Pathogenic/Likely pathogenic Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg668Trp Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Arg754Cys Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg754His Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Glu14Val Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Glu344Lys Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Gly245Ser Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ile259Thr Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ile354Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Ile755Val Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Leu729Val Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Pro567Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Pro567Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Thr592Met Uncertain significance Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Val484Met Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Val489Met Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Val650Ile Likely benign Multiple submitters
Schimke immuno-osseous dysplasia
SMARCAL1 p.Val833Met Uncertain significance Multiple submitters
Inborn genetic diseases
SMARCAL1 p.Ala404Glu Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ala472Ser Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ala472Thr Conflicting Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ala572Val Uncertain significance Single submitter
Inborn genetic diseases
SMARCAL1 p.Arg23Cys Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg23His Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg247His Uncertain significance Single submitter
Inborn genetic diseases
SMARCAL1 p.Arg334Gln Conflicting Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg453Cys Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg476Trp Uncertain significance Single submitter
Inborn genetic diseases
SMARCAL1 p.Arg617Trp Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Arg704Gly Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Asp424Val Conflicting Single submitter
kidney disorder
SMARCAL1 p.Asp517Gly Uncertain significance Single submitter
Inborn genetic diseases
SMARCAL1 p.Asp739Ala Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Gln9Glu Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Gly245Asp Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ile252Thr Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ile547Met Uncertain significance Single submitter
Inborn genetic diseases
SMARCAL1 p.Ile547Val Uncertain significance Single submitter
Inborn genetic diseases
SMARCAL1 p.Leu436Met Uncertain significance Single submitter
SMARCAL1 p.Leu532Phe Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Leu773Pro Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Leu845Gln Conflicting Single submitter
Inborn genetic diseases
SMARCAL1 p.Leu900Pro Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Lys657Arg Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Lys735Glu Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Lys748Met Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Lys748Thr Uncertain significance Single submitter
Inborn genetic diseases
SMARCAL1 p.Met584Thr Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Phe262Leu Uncertain significance Single submitter
Inborn genetic diseases
SMARCAL1 p.Phe357Leu Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Phe602Leu Uncertain significance Single submitter
Inborn genetic diseases
SMARCAL1 p.Pro272Leu Uncertain significance Single submitter
SMARCAL1 p.Pro438Leu Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Pro567Thr Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Pro844Thr Uncertain significance Single submitter
Inborn genetic diseases
SMARCAL1 p.Ser267Gly Uncertain significance Single submitter
SMARCAL1 p.Ser434Phe Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Ser774Trp Uncertain significance Single submitter
SMARCAL1 p.Val512Met Conflicting Single submitter
kidney disorder
SMARCAL1 p.Val662Ala Uncertain significance Single submitter
Schimke immuno-osseous dysplasia
SMARCAL1 p.Thr6Pro Uncertain significance No assertion criteria
Schimke immuno-osseous dysplasia

All SMARCAL1 variants

Pathogenic 87

c.2528+1G>A Multiple submitters Schimke immuno-osseous dysplasia
c.863-2A>G Multiple submitters SMARCAL1-related disorder
p.Arg114fs Multiple submitters Schimke immuno-osseous dysplasia
p.Arg17Ter Multiple submitters Schimke immuno-osseous dysplasia
p.Arg334Ter Multiple submitters Schimke immuno-osseous dysplasia
p.Arg561His Multiple submitters Schimke immuno-osseous dysplasia
p.Arg611fs Multiple submitters Schimke immuno-osseous dysplasia
p.Arg764Gln Multiple submitters Schimke immuno-osseous dysplasia
p.Cys241Ter Multiple submitters Schimke immuno-osseous dysplasia
p.Gln770Ter Multiple submitters Schimke immuno-osseous dysplasia
p.Gln84fs Multiple submitters Schimke immuno-osseous dysplasia
p.Glu848Ter Multiple submitters SMARCAL1-related disorder
p.Leu397fs Multiple submitters SMARCAL1-related disorder
p.Pro480fs Multiple submitters Schimke immuno-osseous dysplasia
p.Ser774Ter Multiple submitters Schimke immuno-osseous dysplasia
p.Thr417fs Multiple submitters Schimke immuno-osseous dysplasia
p.Trp500Ter Multiple submitters Schimke immuno-osseous dysplasia
p.Val641fs Multiple submitters Schimke immuno-osseous dysplasia
c.(1147+1_1148-1 Single submitter Schimke immuno-osseous dysplasia
c.2141+5G>A Single submitter Schimke immuno-osseous dysplasia
p.Ala195fs Single submitter Schimke immuno-osseous dysplasia
p.Ala197fs Single submitter Schimke immuno-osseous dysplasia
p.Ala404fs Single submitter Schimke immuno-osseous dysplasia
p.Arg334fs Single submitter Schimke immuno-osseous dysplasia
p.Arg476fs Single submitter Schimke immuno-osseous dysplasia
p.Arg674Ter Single submitter Schimke immuno-osseous dysplasia
p.Asp649fs Single submitter Schimke immuno-osseous dysplasia
p.Gln128Ter Single submitter Schimke immuno-osseous dysplasia
p.Gln137Ter Single submitter Schimke immuno-osseous dysplasia
p.Gln149Ter Single submitter Schimke immuno-osseous dysplasia
p.Gln223Ter Single submitter Schimke immuno-osseous dysplasia
p.Gln319Ter Single submitter Schimke immuno-osseous dysplasia
p.Gln34Ter Single submitter Schimke immuno-osseous dysplasia
p.Gln408Ter Single submitter Schimke immuno-osseous dysplasia
p.Gln467Ter Single submitter Schimke immuno-osseous dysplasia
p.Gln538Ter Single submitter Schimke immuno-osseous dysplasia
p.Gln593Ter Single submitter Schimke immuno-osseous dysplasia
p.Gln604fs Single submitter Schimke immuno-osseous dysplasia
p.Gln693Ter Single submitter Schimke immuno-osseous dysplasia
p.Gln769Ter Single submitter Inborn genetic diseases
p.Gln847fs Single submitter Schimke immuno-osseous dysplasia
p.Glu132fs Single submitter Schimke immuno-osseous dysplasia
p.Glu142fs Single submitter Schimke immuno-osseous dysplasia
p.Glu257Ter Single submitter Schimke immuno-osseous dysplasia
p.Glu303Ter Single submitter Schimke immuno-osseous dysplasia
p.Glu378Ter Single submitter Schimke immuno-osseous dysplasia
p.Glu422fs Single submitter Schimke immuno-osseous dysplasia
p.Gly144Ter Single submitter Schimke immuno-osseous dysplasia
p.Gly515fs Single submitter Schimke immuno-osseous dysplasia
p.Gly836fs Single submitter Schimke immuno-osseous dysplasia
p.His734fs Single submitter Schimke immuno-osseous dysplasia
p.His87fs Single submitter Schimke immuno-osseous dysplasia
p.His90fs Single submitter Schimke immuno-osseous dysplasia
p.Ile576fs Single submitter Schimke immuno-osseous dysplasia
p.Ile710fs Single submitter Schimke immuno-osseous dysplasia
p.Leu139fs Single submitter Schimke immuno-osseous dysplasia
p.Leu139Ter Single submitter Schimke immuno-osseous dysplasia
p.Leu143Ter Single submitter Schimke immuno-osseous dysplasia
p.Leu167fs Single submitter Schimke immuno-osseous dysplasia
p.Leu409fs Single submitter Schimke immuno-osseous dysplasia
p.Leu646fs Single submitter Schimke immuno-osseous dysplasia
p.Leu798fs Single submitter Schimke immuno-osseous dysplasia
p.Lys263Ter Single submitter Schimke immuno-osseous dysplasia
p.Lys537fs Single submitter Schimke immuno-osseous dysplasia
p.Lys835fs Single submitter Schimke immuno-osseous dysplasia
p.Phe279fs Single submitter Schimke immuno-osseous dysplasia
p.Phe357fs Single submitter Schimke immuno-osseous dysplasia
p.Pro177fs Single submitter Schimke immuno-osseous dysplasia
p.Pro390fs Single submitter Schimke immuno-osseous dysplasia
p.Pro398fs Single submitter Schimke immuno-osseous dysplasia
p.Pro502fs Single submitter Schimke immuno-osseous dysplasia
p.Pro506fs Single submitter Schimke immuno-osseous dysplasia
p.Pro542fs Single submitter Schimke immuno-osseous dysplasia
p.Ser329Ter Single submitter Schimke immuno-osseous dysplasia
p.Ser625Ter Single submitter Schimke immuno-osseous dysplasia
p.Ser77fs Single submitter Schimke immuno-osseous dysplasia
p.Trp479fs Single submitter
p.Trp620Ter Single submitter Schimke immuno-osseous dysplasia
p.Trp622Ter Single submitter Schimke immuno-osseous dysplasia
p.Trp843Ter Single submitter Schimke immuno-osseous dysplasia
p.Tyr612Ter Single submitter Schimke immuno-osseous dysplasia
p.Val297fs Single submitter Schimke immuno-osseous dysplasia
p.Val545fs Single submitter Schimke immuno-osseous dysplasia
p.Val810fs Single submitter Schimke immuno-osseous dysplasia
p.Gln604Ter No assertion criteria Schimke immuno-osseous dysplasia
p.Ile548Asn No assertion criteria Schimke immuno-osseous dysplasia
p.Phe343fs No assertion criteria Schimke immuno-osseous dysplasia

Pathogenic/Likely pathogenic 25

c.1146_1147+2del Multiple submitters SMARCAL1-related disorder
c.1334+1G>A Multiple submitters Schimke immuno-osseous dysplasia
c.2070+2dup Multiple submitters Schimke immuno-osseous dysplasia
p.Ala43fs Multiple submitters Schimke immuno-osseous dysplasia
p.Arg563Ter Multiple submitters Schimke immuno-osseous dysplasia
p.Arg644Gln Multiple submitters Schimke immuno-osseous dysplasia
p.Arg644Trp Multiple submitters Schimke immuno-osseous dysplasia
p.Arg645Cys Multiple submitters Schimke immuno-osseous dysplasia
p.Arg645fs Multiple submitters Schimke immuno-osseous dysplasia
p.Arg645His Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Arg820His Multiple submitters Inherited Immunodeficiency Diseases
p.Asn203fs Multiple submitters Schimke immuno-osseous dysplasia
p.Asp366fs Multiple submitters Schimke immuno-osseous dysplasia
p.Gln237Ter Multiple submitters Schimke immuno-osseous dysplasia
p.Gln351Ter Multiple submitters Schimke immuno-osseous dysplasia
p.Gln495Ter Multiple submitters Schimke immuno-osseous dysplasia
p.His208fs Multiple submitters Schimke immuno-osseous dysplasia
p.Leu143fs Multiple submitters Schimke immuno-osseous dysplasia
p.Lys647Thr Multiple submitters Schimke immuno-osseous dysplasia
p.Pro124fs Multiple submitters Schimke immuno-osseous dysplasia
p.Ser579Leu Multiple submitters Schimke immuno-osseous dysplasia
p.Ser628fs Multiple submitters Schimke immuno-osseous dysplasia
p.Thr215fs Multiple submitters Schimke immuno-osseous dysplasia
p.Thr296fs Multiple submitters Schimke immuno-osseous dysplasia
p.Thr399fs Multiple submitters Schimke immuno-osseous dysplasia

Likely pathogenic 53

c.1485+1G>A Multiple submitters Schimke immuno-osseous dysplasia
c.1710+2T>C Multiple submitters Schimke immuno-osseous dysplasia
c.2427+1G>A Multiple submitters Schimke immuno-osseous dysplasia
c.862+1G>A Multiple submitters SMARCAL1-related disorder
p.Ala468Pro Multiple submitters Schimke immuno-osseous dysplasia
c.1147+1G>A Single submitter Schimke immuno-osseous dysplasia
c.1147+2_1147+3del Single submitter Schimke immuno-osseous dysplasia
c.1147+2T>G Single submitter Schimke immuno-osseous dysplasia
c.1644+1G>T Single submitter Schimke immuno-osseous dysplasia
c.1645-2A>G Single submitter Schimke immuno-osseous dysplasia
c.1645-2A>T Single submitter Schimke immuno-osseous dysplasia
c.1711-2A>C Single submitter Schimke immuno-osseous dysplasia
c.1851+1G>A Single submitter Schimke immuno-osseous dysplasia
c.1851+1G>T Single submitter Schimke immuno-osseous dysplasia
c.2070+2_2070+3del Single submitter Schimke immuno-osseous dysplasia
c.2141+1G>A Single submitter Schimke immuno-osseous dysplasia
c.2244+1G>A Single submitter Schimke immuno-osseous dysplasia
c.812-2A>G Single submitter Schimke immuno-osseous dysplasia
p.Arg499fs Single submitter Schimke immuno-osseous dysplasia
p.Arg558fs Single submitter Schimke immuno-osseous dysplasia
p.Arg561Cys Single submitter Schimke immuno-osseous dysplasia
p.Arg725fs Single submitter Schimke immuno-osseous dysplasia
p.Arg764Gly Single submitter SMARCAL1-related disorder
p.Asp507fs Single submitter Schimke immuno-osseous dysplasia
p.Asp816Glu Single submitter
p.Asp83fs Single submitter Schimke immuno-osseous dysplasia
p.Gln658fs Single submitter Schimke immuno-osseous dysplasia
p.Gln692Ter Single submitter Schimke immuno-osseous dysplasia
p.Gln74_Asn75insTer Single submitter Schimke immuno-osseous dysplasia
p.Gly790Asp Single submitter osteosarcoma
p.Ile383fs Single submitter Schimke immuno-osseous dysplasia
p.Ile755Ser Single submitter Schimke immuno-osseous dysplasia
p.Ile821Ser Single submitter Schimke immuno-osseous dysplasia
p.Leu397Pro Single submitter
p.Leu462_Gly463dup Single submitter Schimke immuno-osseous dysplasia
p.Lys727fs Single submitter Schimke immuno-osseous dysplasia
p.Met1Ile Single submitter Schimke immuno-osseous dysplasia
p.Met584fs Single submitter Schimke immuno-osseous dysplasia
p.Phe405fs Single submitter Schimke immuno-osseous dysplasia
p.Pro162fs Single submitter Schimke immuno-osseous dysplasia
p.Pro808fs Single submitter Schimke immuno-osseous dysplasia
p.Ser181fs Single submitter Schimke immuno-osseous dysplasia
p.Ser200fs Single submitter Schimke immuno-osseous dysplasia
p.Thr686fs Single submitter Schimke immuno-osseous dysplasia
p.Trp277Ter Single submitter Schimke immuno-osseous dysplasia
p.Trp500Phe Single submitter
p.Trp806Ter Single submitter Schimke immuno-osseous dysplasia
p.Tyr206Ter Single submitter Schimke immuno-osseous dysplasia
p.Tyr831Ter Single submitter Schimke immuno-osseous dysplasia
p.Gly857Glu No assertion criteria Schimke immuno-osseous dysplasia
p.Phe608Leu No assertion criteria nephrotic syndrome
p.Phe731fs No assertion criteria atypical hemolytic-uremic syndrome
p.Ser579Ter No assertion criteria nephrotic syndrome

Conflicting classifications of pathogenicity 68

c.1147+8G>A Single submitter Schimke immuno-osseous dysplasia
c.1485+10C>T Single submitter Schimke immuno-osseous dysplasia
c.1645-19T>A Single submitter Schimke immuno-osseous dysplasia
c.1851+5G>A Single submitter SMARCAL1-related disorder
c.2142-15C>A Single submitter Schimke immuno-osseous dysplasia
c.2427+9C>T Single submitter Schimke immuno-osseous dysplasia
c.2528+15G>A Single submitter Schimke immuno-osseous dysplasia
c.2528+5G>C Single submitter Schimke immuno-osseous dysplasia
c.812-15T>C Single submitter Schimke immuno-osseous dysplasia
c.863-17TTC[2] Single submitter Schimke immuno-osseous dysplasia
c.863-4G>T Single submitter Schimke immuno-osseous dysplasia
c.863-9C>G Single submitter Schimke immuno-osseous dysplasia
p.Ala118Gly Single submitter Schimke immuno-osseous dysplasia ⚠
p.Ala150Ser Single submitter Inborn genetic diseases ⚠
p.Ala256= Single submitter Schimke immuno-osseous dysplasia
p.Ala472Thr Single submitter Schimke immuno-osseous dysplasia ⚠
p.Ala780= Single submitter Schimke immuno-osseous dysplasia
p.Arg114Cys Single submitter Schimke immuno-osseous dysplasia ⚠
p.Arg114Gly Single submitter Schimke immuno-osseous dysplasia ⚠
p.Arg334Gln Single submitter Schimke immuno-osseous dysplasia ⚠
p.Arg499Gln Single submitter Schimke immuno-osseous dysplasia ⚠
p.Arg586Trp Single submitter Schimke immuno-osseous dysplasia ⚠
p.Arg764Trp Single submitter Schimke immuno-osseous dysplasia ⚠
p.Arg817Cys Single submitter Schimke immuno-osseous dysplasia ⚠
p.Arg817His Single submitter Schimke immuno-osseous dysplasia ⚠
p.Asn788= Single submitter Schimke immuno-osseous dysplasia
p.Asp424Val Single submitter kidney disorder ⚠
p.Gln391= Single submitter Schimke immuno-osseous dysplasia
p.Gln772= Single submitter Schimke immuno-osseous dysplasia
p.Glu765= Single submitter Schimke immuno-osseous dysplasia
p.Gly321Asp Single submitter Inborn genetic diseases ⚠
p.Gly321Ser Single submitter Inborn genetic diseases ⚠
p.Gly39= Single submitter Schimke immuno-osseous dysplasia
p.His90= Single submitter Schimke immuno-osseous dysplasia
p.Ile469= Single submitter Schimke immuno-osseous dysplasia
p.Ile471= Single submitter Schimke immuno-osseous dysplasia
p.Ile576Thr Single submitter Inborn genetic diseases ⚠
p.Ile595= Single submitter Schimke immuno-osseous dysplasia
p.Ile741Val Single submitter Schimke immuno-osseous dysplasia ⚠
p.Leu322His Single submitter focal segmental glomerulosclerosis ⚠
p.Leu845= Single submitter Schimke immuno-osseous dysplasia
p.Leu845Gln Single submitter Inborn genetic diseases ⚠
p.Leu926= Single submitter Schimke immuno-osseous dysplasia
p.Lys189Glu Single submitter Schimke immuno-osseous dysplasia ⚠
p.Lys225= Single submitter Schimke immuno-osseous dysplasia
p.Lys881Gln Single submitter Schimke immuno-osseous dysplasia ⚠
p.Lys99Arg Single submitter Inborn genetic diseases ⚠
p.Met566Val Single submitter Inborn genetic diseases ⚠
p.Met897Thr Single submitter Schimke immuno-osseous dysplasia ⚠
p.Met922Thr Single submitter Schimke immuno-osseous dysplasia ⚠
p.Phe279Ser Single submitter Schimke immuno-osseous dysplasia ⚠
p.Phe357Ile Single submitter Schimke immuno-osseous dysplasia ⚠
p.Phe801Val Single submitter osteosarcoma ⚠
p.Pro480Leu Single submitter Schimke immuno-osseous dysplasia ⚠
p.Ser200= Single submitter Schimke immuno-osseous dysplasia
p.Ser309= Single submitter Schimke immuno-osseous dysplasia
p.Ser309Asn Single submitter Inborn genetic diseases ⚠
p.Ser648= Single submitter Schimke immuno-osseous dysplasia
p.Ser774= Single submitter Schimke immuno-osseous dysplasia
p.Ser915= Single submitter Schimke immuno-osseous dysplasia
p.Thr215Met Single submitter Inborn genetic diseases ⚠
p.Thr399Met Single submitter Schimke immuno-osseous dysplasia ⚠
p.Thr417= Single submitter Schimke immuno-osseous dysplasia
p.Thr592= Single submitter focal segmental glomerulosclerosis
p.Thr705Ile Single submitter SMARCAL1-related disorder ⚠
p.Val242Ile Single submitter Schimke immuno-osseous dysplasia ⚠
p.Val386= Single submitter Schimke immuno-osseous dysplasia
p.Val512Met Single submitter kidney disorder ⚠

Benign 44

c.1096+32A>C Multiple submitters
c.1335-23A>G Multiple submitters
c.1335-91G>A Multiple submitters
c.1645-56T>C Multiple submitters
c.1711-106C>T Multiple submitters
c.1711-111G>T Multiple submitters Schimke immuno-osseous dysplasia
c.1711-132G>A Multiple submitters Schimke immuno-osseous dysplasia
c.1852-153A>G Multiple submitters Schimke immuno-osseous dysplasia
c.2070+43A>T Multiple submitters
c.2071-136T>C Multiple submitters Schimke immuno-osseous dysplasia
c.2141+17T>C Multiple submitters Schimke immuno-osseous dysplasia
c.2428-95G>A Multiple submitters
c.2528+131A>G Multiple submitters
c.2528+198C>T Multiple submitters
c.2528+68T>C Multiple submitters Schimke immuno-osseous dysplasia
c.2529-153T>G Multiple submitters
c.2626-33C>T Multiple submitters
c.811+37_811+38del Multiple submitters
c.811+38del Multiple submitters Schimke immuno-osseous dysplasia
c.812-104T>C Multiple submitters
c.812-156T>C Multiple submitters
c.812-89G>A Multiple submitters
c.862+128del Multiple submitters
c.862+183G>A Multiple submitters
c.863-39C>G Multiple submitters
c.-58-210G>A Multiple submitters
p.Glu377Gln Multiple submitters focal segmental glomerulosclerosis
p.Thr690= Multiple submitters Schimke immuno-osseous dysplasia
c.1096+152A>G Single submitter
c.1645-274C>T Single submitter
c.1711-119C>T Single submitter
c.1711-283C>A Single submitter
c.1851+293T>G Single submitter
c.1852-205A>C Single submitter
c.2071-296G>A Single submitter
c.2141+56dup Single submitter
c.2428-350G>T Single submitter
c.2625+116dup Single submitter
c.2626-191G>T Single submitter
c.811+156T>C Single submitter
c.811+36_811+38del Single submitter
c.-58-254G>A Single submitter
p.Asp352= Single submitter Schimke immuno-osseous dysplasia
p.Tyr883= Single submitter Schimke immuno-osseous dysplasia

Benign/Likely benign 14

c.2244+19T>C Multiple submitters Schimke immuno-osseous dysplasia
p.Ala320= Multiple submitters kidney disorder
p.Ala404= Multiple submitters Schimke immuno-osseous dysplasia
p.Ala43Thr Multiple submitters Schimke immuno-osseous dysplasia
p.Ala665= Multiple submitters Schimke immuno-osseous dysplasia
p.Arg114His Multiple submitters kidney disorder
p.Arg24= Multiple submitters kidney disorder
p.Arg617Leu Multiple submitters Schimke immuno-osseous dysplasia
p.Asp649= Multiple submitters Schimke immuno-osseous dysplasia
p.Ile42Val Multiple submitters Schimke immuno-osseous dysplasia
p.Pro301Ala Multiple submitters Schimke immuno-osseous dysplasia
p.Ser315Arg Multiple submitters focal segmental glomerulosclerosis
p.Ser415Gly Multiple submitters focal segmental glomerulosclerosis
p.Tyr141= Multiple submitters Schimke immuno-osseous dysplasia

Likely benign 577

Showing the top 300 by review status; the full set is in the sitemap.

c.1096+28C>A Multiple submitters
c.1147+9C>T Multiple submitters Schimke immuno-osseous dysplasia
c.1148-8_1148-6del Multiple submitters Schimke immuno-osseous dysplasia
c.1485+8G>A Multiple submitters Schimke immuno-osseous dysplasia
c.1486-14C>A Multiple submitters Schimke immuno-osseous dysplasia
c.1486-17C>T Multiple submitters Schimke immuno-osseous dysplasia
c.1711-80C>T Multiple submitters
c.1851+14C>G Multiple submitters Schimke immuno-osseous dysplasia
c.2141+20C>T Multiple submitters Schimke immuno-osseous dysplasia
c.2245-10G>T Multiple submitters Schimke immuno-osseous dysplasia
c.2427+10G>A Multiple submitters Schimke immuno-osseous dysplasia
c.2625+18C>T Multiple submitters Schimke immuno-osseous dysplasia
c.2626-268G>A Multiple submitters
p.Arg387Cys Multiple submitters Schimke immuno-osseous dysplasia
p.Asn244= Multiple submitters Schimke immuno-osseous dysplasia
p.Asn255= Multiple submitters Schimke immuno-osseous dysplasia
p.Asp246= Multiple submitters Schimke immuno-osseous dysplasia
p.Asp458= Multiple submitters Schimke immuno-osseous dysplasia
p.Asp507= Multiple submitters Schimke immuno-osseous dysplasia
p.Asp948= Multiple submitters Schimke immuno-osseous dysplasia
p.Cys62= Multiple submitters Schimke immuno-osseous dysplasia
p.Gln231= Multiple submitters Schimke immuno-osseous dysplasia
p.Gln93= Multiple submitters Schimke immuno-osseous dysplasia
p.Glu494= Multiple submitters Schimke immuno-osseous dysplasia
p.Glu763= Multiple submitters Schimke immuno-osseous dysplasia
p.Glu904= Multiple submitters Schimke immuno-osseous dysplasia
p.Gly621= Multiple submitters Schimke immuno-osseous dysplasia
p.Leu222= Multiple submitters Schimke immuno-osseous dysplasia
p.Leu401= Multiple submitters Schimke immuno-osseous dysplasia
p.Leu578= Multiple submitters Schimke immuno-osseous dysplasia
p.Lys289= Multiple submitters Schimke immuno-osseous dysplasia
p.Lys63= Multiple submitters Schimke immuno-osseous dysplasia
p.Lys647= Multiple submitters Schimke immuno-osseous dysplasia
p.Lys691= Multiple submitters Schimke immuno-osseous dysplasia
p.Pro166Ser Multiple submitters Schimke immuno-osseous dysplasia
p.Pro312= Multiple submitters Schimke immuno-osseous dysplasia
p.Pro619= Multiple submitters Schimke immuno-osseous dysplasia
p.Ser488= Multiple submitters Schimke immuno-osseous dysplasia
p.Ser826= Multiple submitters Schimke immuno-osseous dysplasia
p.Ser889= Multiple submitters Schimke immuno-osseous dysplasia
p.Ser929= Multiple submitters Schimke immuno-osseous dysplasia
p.Thr296= Multiple submitters Schimke immuno-osseous dysplasia
p.Thr40= Multiple submitters Schimke immuno-osseous dysplasia
p.Thr861= Multiple submitters Schimke immuno-osseous dysplasia
p.Thr951= Multiple submitters Schimke immuno-osseous dysplasia
p.Val433= Multiple submitters Schimke immuno-osseous dysplasia
p.Val511= Multiple submitters Schimke immuno-osseous dysplasia
p.Val650Ile Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Val818= Multiple submitters Schimke immuno-osseous dysplasia
c.1096+11G>A Single submitter Schimke immuno-osseous dysplasia
c.1096+12G>A Single submitter Schimke immuno-osseous dysplasia
c.1096+13T>C Single submitter Schimke immuno-osseous dysplasia
c.1096+14C>T Single submitter Schimke immuno-osseous dysplasia
c.1096+14del Single submitter Schimke immuno-osseous dysplasia
c.1096+15T>C Single submitter Schimke immuno-osseous dysplasia
c.1096+19T>C Single submitter Schimke immuno-osseous dysplasia
c.1096+9T>C Single submitter Schimke immuno-osseous dysplasia
c.1097-10G>T Single submitter Schimke immuno-osseous dysplasia
c.1097-13C>A Single submitter Schimke immuno-osseous dysplasia
c.1097-14T>C Single submitter Schimke immuno-osseous dysplasia
c.1097-15T>G Single submitter Schimke immuno-osseous dysplasia
c.1097-7A>G Single submitter Schimke immuno-osseous dysplasia
c.1097-8C>T Single submitter Schimke immuno-osseous dysplasia
c.1147+14C>T Single submitter Schimke immuno-osseous dysplasia
c.1147+16T>C Single submitter Schimke immuno-osseous dysplasia
c.1147+17A>G Single submitter Schimke immuno-osseous dysplasia
c.1147+18C>G Single submitter Schimke immuno-osseous dysplasia
c.1147+19T>C Single submitter Schimke immuno-osseous dysplasia
c.1148-10T>C Single submitter Schimke immuno-osseous dysplasia
c.1148-11C>A Single submitter Schimke immuno-osseous dysplasia
c.1148-12T>C Single submitter Schimke immuno-osseous dysplasia
c.1148-14G>A Single submitter Schimke immuno-osseous dysplasia
c.1148-16C>T Single submitter Schimke immuno-osseous dysplasia
c.1148-17T>C Single submitter Schimke immuno-osseous dysplasia
c.1148-19C>T Single submitter Schimke immuno-osseous dysplasia
c.1148-20G>A Single submitter Schimke immuno-osseous dysplasia
c.1148-20G>T Single submitter Schimke immuno-osseous dysplasia
c.1148-282G>T Single submitter
c.1148-4T>G Single submitter Schimke immuno-osseous dysplasia
c.1148-9T>G Single submitter Schimke immuno-osseous dysplasia
c.1334+11_1334+13del Single submitter Schimke immuno-osseous dysplasia
c.1334+11G>A Single submitter Schimke immuno-osseous dysplasia
c.1334+12A>T Single submitter Schimke immuno-osseous dysplasia
c.1334+14C>T Single submitter Schimke immuno-osseous dysplasia
c.1334+15T>A Single submitter Schimke immuno-osseous dysplasia
c.1334+15T>C Single submitter Schimke immuno-osseous dysplasia
c.1334+17C>T Single submitter Schimke immuno-osseous dysplasia
c.1334+274G>A Single submitter
c.1334+8C>G Single submitter
c.1335-10C>G Single submitter Schimke immuno-osseous dysplasia
c.1335-15C>T Single submitter Schimke immuno-osseous dysplasia
c.1335-6C>T Single submitter Schimke immuno-osseous dysplasia
c.1335-7C>T Single submitter Schimke immuno-osseous dysplasia
c.1485+18T>G Single submitter Schimke immuno-osseous dysplasia
c.1485+19G>T Single submitter Schimke immuno-osseous dysplasia
c.1485+288T>C Single submitter
c.1486-10T>C Single submitter Schimke immuno-osseous dysplasia
c.1486-11G>C Single submitter Schimke immuno-osseous dysplasia
c.1486-20T>G Single submitter Schimke immuno-osseous dysplasia
c.1486-4A>G Single submitter Schimke immuno-osseous dysplasia
c.1486-5C>A Single submitter Schimke immuno-osseous dysplasia
c.1486-6C>T Single submitter Schimke immuno-osseous dysplasia
c.1486-7T>C Single submitter Schimke immuno-osseous dysplasia
c.1486-8A>T Single submitter Schimke immuno-osseous dysplasia
c.1644+10T>A Single submitter Schimke immuno-osseous dysplasia
c.1644+12G>A Single submitter Schimke immuno-osseous dysplasia
c.1644+12G>C Single submitter Schimke immuno-osseous dysplasia
c.1644+14C>G Single submitter Schimke immuno-osseous dysplasia
c.1644+16A>G Single submitter Schimke immuno-osseous dysplasia
c.1644+17A>G Single submitter Schimke immuno-osseous dysplasia
c.1644+9C>T Single submitter Schimke immuno-osseous dysplasia
c.1645-10T>C Single submitter Schimke immuno-osseous dysplasia
c.1645-11C>T Single submitter Schimke immuno-osseous dysplasia
c.1645-12A>G Single submitter Schimke immuno-osseous dysplasia
c.1645-132T>A Single submitter
c.1645-15G>A Single submitter Schimke immuno-osseous dysplasia
c.1645-19T>C Single submitter Schimke immuno-osseous dysplasia
c.1645-246G>A Single submitter
c.1710+12T>A Single submitter Schimke immuno-osseous dysplasia
c.1710+16A>T Single submitter Schimke immuno-osseous dysplasia
c.1710+18C>T Single submitter Schimke immuno-osseous dysplasia
c.1710+19T>C Single submitter Schimke immuno-osseous dysplasia
c.1710+20G>A Single submitter Schimke immuno-osseous dysplasia
c.1710+256C>T Single submitter
c.1710+8C>T Single submitter
c.1711-11T>C Single submitter Schimke immuno-osseous dysplasia
c.1711-20T>C Single submitter Schimke immuno-osseous dysplasia
c.1711-9G>A Single submitter Schimke immuno-osseous dysplasia
c.1711-9G>T Single submitter Schimke immuno-osseous dysplasia
c.1851+10A>T Single submitter Schimke immuno-osseous dysplasia
c.1851+12C>T Single submitter Schimke immuno-osseous dysplasia
c.1851+16_1851+17insGCC Single submitter
c.1851+16_1851+17insTCCC Single submitter
c.1851+17C>G Single submitter Schimke immuno-osseous dysplasia
c.1851+17C>T Single submitter Schimke immuno-osseous dysplasia
c.1851+8T>C Single submitter Schimke immuno-osseous dysplasia
c.1852-16G>A Single submitter Schimke immuno-osseous dysplasia
c.1852-19G>A Single submitter Schimke immuno-osseous dysplasia
c.1852-19G>T Single submitter Schimke immuno-osseous dysplasia
c.1852-20C>T Single submitter Schimke immuno-osseous dysplasia
c.1852-4G>T Single submitter
c.1852-7T>C Single submitter Schimke immuno-osseous dysplasia
c.1852-7T>G Single submitter Schimke immuno-osseous dysplasia
c.2070+10G>A Single submitter Schimke immuno-osseous dysplasia
c.2070+11G>A Single submitter Schimke immuno-osseous dysplasia
c.2070+15G>A Single submitter Schimke immuno-osseous dysplasia
c.2070+20C>A Single submitter Schimke immuno-osseous dysplasia
c.2070+280G>A Single submitter
c.2070+7C>T Single submitter Schimke immuno-osseous dysplasia
c.2070+8C>T Single submitter Schimke immuno-osseous dysplasia
c.2070+9A>G Single submitter Schimke immuno-osseous dysplasia
c.2070+9A>T Single submitter Schimke immuno-osseous dysplasia
c.2071-11T>C Single submitter Schimke immuno-osseous dysplasia
c.2071-12A>G Single submitter Schimke immuno-osseous dysplasia
c.2071-12A>T Single submitter Schimke immuno-osseous dysplasia
c.2071-16_2071-12del Single submitter Schimke immuno-osseous dysplasia
c.2071-18dup Single submitter Schimke immuno-osseous dysplasia
c.2071-5A>G Single submitter Schimke immuno-osseous dysplasia
c.2071-6C>A Single submitter Schimke immuno-osseous dysplasia
c.2141+10C>T Single submitter Schimke immuno-osseous dysplasia
c.2141+11A>C Single submitter Schimke immuno-osseous dysplasia
c.2141+17T>A Single submitter Schimke immuno-osseous dysplasia
c.2141+18G>A Single submitter Schimke immuno-osseous dysplasia
c.2141+18G>C Single submitter Schimke immuno-osseous dysplasia
c.2141+53_2141+54insC Single submitter
c.2141+55A>C Single submitter
c.2141+7G>T Single submitter Schimke immuno-osseous dysplasia
c.2141+8G>T Single submitter Schimke immuno-osseous dysplasia
c.2142-10T>A Single submitter Schimke immuno-osseous dysplasia
c.2142-14A>C Single submitter Schimke immuno-osseous dysplasia
c.2142-14A>G Single submitter Schimke immuno-osseous dysplasia
c.2244+10C>T Single submitter Schimke immuno-osseous dysplasia
c.2244+17A>G Single submitter Schimke immuno-osseous dysplasia
c.2244+18T>C Single submitter Schimke immuno-osseous dysplasia
c.2244+8C>G Single submitter Schimke immuno-osseous dysplasia
c.2245-11T>C Single submitter Schimke immuno-osseous dysplasia
c.2245-12T>C Single submitter Schimke immuno-osseous dysplasia
c.2245-13C>T Single submitter Schimke immuno-osseous dysplasia
c.2245-17G>T Single submitter Schimke immuno-osseous dysplasia
c.2245-18T>C Single submitter
c.2245-192T>C Single submitter
c.2245-278A>C Single submitter
c.2245-4G>A Single submitter Schimke immuno-osseous dysplasia
c.2245-5T>C Single submitter Schimke immuno-osseous dysplasia
c.2245-6C>T Single submitter Schimke immuno-osseous dysplasia
c.2245-6del Single submitter Schimke immuno-osseous dysplasia
c.2427+10G>T Single submitter Schimke immuno-osseous dysplasia
c.2427+11C>A Single submitter Schimke immuno-osseous dysplasia
c.2427+12A>G Single submitter Schimke immuno-osseous dysplasia
c.2427+7G>C Single submitter Schimke immuno-osseous dysplasia
c.2428-12C>G Single submitter Schimke immuno-osseous dysplasia
c.2428-12C>T Single submitter Schimke immuno-osseous dysplasia
c.2428-13C>T Single submitter Schimke immuno-osseous dysplasia
c.2428-17A>G Single submitter Schimke immuno-osseous dysplasia
c.2428-7C>T Single submitter Schimke immuno-osseous dysplasia
c.2428-8A>G Single submitter Schimke immuno-osseous dysplasia
c.2528+35C>T Single submitter
c.2528+36G>A Single submitter
c.2528+7_2528+15del Single submitter Schimke immuno-osseous dysplasia
c.2528+9T>G Single submitter Schimke immuno-osseous dysplasia
c.2529-12T>G Single submitter Schimke immuno-osseous dysplasia
c.2529-16C>T Single submitter Schimke immuno-osseous dysplasia
c.2529-19G>C Single submitter Schimke immuno-osseous dysplasia
c.2529-4A>C Single submitter Schimke immuno-osseous dysplasia
c.2529-4A>T Single submitter Schimke immuno-osseous dysplasia
c.2529-5A>G Single submitter Schimke immuno-osseous dysplasia
c.2529-7C>G Single submitter Schimke immuno-osseous dysplasia
c.2529-9C>G Single submitter Schimke immuno-osseous dysplasia
c.2529-9C>T Single submitter Schimke immuno-osseous dysplasia
c.2625+10G>A Single submitter Schimke immuno-osseous dysplasia
c.2625+15T>A Single submitter Schimke immuno-osseous dysplasia
c.2625+7C>T Single submitter Schimke immuno-osseous dysplasia
c.2625+8C>G Single submitter Schimke immuno-osseous dysplasia
c.2625+9A>G Single submitter Schimke immuno-osseous dysplasia
c.2626-11C>G Single submitter Schimke immuno-osseous dysplasia
c.2626-11C>T Single submitter Schimke immuno-osseous dysplasia
c.2626-15C>A Single submitter Schimke immuno-osseous dysplasia
c.2626-19T>C Single submitter Schimke immuno-osseous dysplasia
c.2626-4G>A Single submitter Schimke immuno-osseous dysplasia
c.2626-5T>C Single submitter Schimke immuno-osseous dysplasia
c.811+103A>G Single submitter
c.811+10T>C Single submitter Schimke immuno-osseous dysplasia
c.811+194T>A Single submitter
c.811+8C>T Single submitter Schimke immuno-osseous dysplasia
c.811+9T>C Single submitter Schimke immuno-osseous dysplasia
c.812-12G>C Single submitter Schimke immuno-osseous dysplasia
c.812-13dup Single submitter Schimke immuno-osseous dysplasia
c.812-14_812-13del Single submitter Schimke immuno-osseous dysplasia
c.812-19G>A Single submitter Schimke immuno-osseous dysplasia
c.812-4T>C Single submitter Schimke immuno-osseous dysplasia
c.812-8T>C Single submitter Schimke immuno-osseous dysplasia
c.862+10C>A Single submitter Schimke immuno-osseous dysplasia
c.862+10C>T Single submitter Schimke immuno-osseous dysplasia
c.862+12C>T Single submitter Schimke immuno-osseous dysplasia
c.862+13A>T Single submitter Schimke immuno-osseous dysplasia
c.862+16G>A Single submitter Schimke immuno-osseous dysplasia
c.862+19G>A Single submitter Schimke immuno-osseous dysplasia
c.862+9A>C Single submitter Schimke immuno-osseous dysplasia
c.863-12C>T Single submitter
c.863-15C>A Single submitter Schimke immuno-osseous dysplasia
c.863-19G>A Single submitter Schimke immuno-osseous dysplasia
c.863-20C>T Single submitter Schimke immuno-osseous dysplasia
c.863-228C>A Single submitter
c.863-228C>T Single submitter
c.863-6T>G Single submitter Schimke immuno-osseous dysplasia
c.-137A>G Single submitter Schimke immuno-osseous dysplasia
c.*20del Single submitter
c.*30T>G Single submitter Schimke immuno-osseous dysplasia
p.Ala107= Single submitter Schimke immuno-osseous dysplasia
p.Ala168= Single submitter Schimke immuno-osseous dysplasia
p.Ala188= Single submitter Schimke immuno-osseous dysplasia
p.Ala195= Single submitter Schimke immuno-osseous dysplasia
p.Ala197= Single submitter Schimke immuno-osseous dysplasia
p.Ala20= Single submitter Schimke immuno-osseous dysplasia
p.Ala260= Single submitter Schimke immuno-osseous dysplasia
p.Ala286= Single submitter Schimke immuno-osseous dysplasia
p.Ala30= Single submitter Schimke immuno-osseous dysplasia
p.Ala355= Single submitter Schimke immuno-osseous dysplasia
p.Ala384= Single submitter Schimke immuno-osseous dysplasia
p.Ala406= Single submitter Schimke immuno-osseous dysplasia
p.Ala43= Single submitter Schimke immuno-osseous dysplasia
p.Ala447= Single submitter Schimke immuno-osseous dysplasia
p.Ala457= Single submitter Schimke immuno-osseous dysplasia
p.Ala468= Single submitter Schimke immuno-osseous dysplasia
p.Ala473= Single submitter Schimke immuno-osseous dysplasia
p.Ala49= Single submitter Schimke immuno-osseous dysplasia
p.Ala521= Single submitter Schimke immuno-osseous dysplasia
p.Ala572= Single submitter Schimke immuno-osseous dysplasia
p.Ala596= Single submitter Schimke immuno-osseous dysplasia
p.Ala656= Single submitter Schimke immuno-osseous dysplasia
p.Ala675= Single submitter Schimke immuno-osseous dysplasia
p.Ala676= Single submitter Schimke immuno-osseous dysplasia
p.Ala796= Single submitter Schimke immuno-osseous dysplasia
p.Ala802= Single submitter Schimke immuno-osseous dysplasia
p.Ala856= Single submitter Schimke immuno-osseous dysplasia
p.Arg114= Single submitter Schimke immuno-osseous dysplasia
p.Arg217= Single submitter
p.Arg23= Single submitter Schimke immuno-osseous dysplasia
p.Arg334= Single submitter Schimke immuno-osseous dysplasia
p.Arg370= Single submitter Schimke immuno-osseous dysplasia
p.Arg499= Single submitter Schimke immuno-osseous dysplasia
p.Arg561= Single submitter Schimke immuno-osseous dysplasia
p.Arg574= Single submitter Schimke immuno-osseous dysplasia
p.Arg586= Single submitter Schimke immuno-osseous dysplasia
p.Arg611= Single submitter Schimke immuno-osseous dysplasia
p.Arg644= Single submitter Schimke immuno-osseous dysplasia
p.Arg668= Single submitter Schimke immuno-osseous dysplasia
p.Arg668Gln Single submitter Inborn genetic diseases
p.Arg672= Single submitter Schimke immuno-osseous dysplasia
p.Arg672Lys Single submitter Inborn genetic diseases
p.Arg725= Single submitter Schimke immuno-osseous dysplasia
p.Arg817= Single submitter Schimke immuno-osseous dysplasia
p.Arg820= Single submitter Schimke immuno-osseous dysplasia
p.Asn203= Single submitter Schimke immuno-osseous dysplasia
p.Asn269= Single submitter Schimke immuno-osseous dysplasia
p.Asn298= Single submitter Schimke immuno-osseous dysplasia
p.Asn45= Single submitter Schimke immuno-osseous dysplasia
p.Asn510= Single submitter Schimke immuno-osseous dysplasia
p.Asn629= Single submitter Schimke immuno-osseous dysplasia
p.Asn807= Single submitter Schimke immuno-osseous dysplasia

Uncertain significance 422

Showing the top 300 by review status; the full set is in the sitemap.

c.2529-4A>G Multiple submitters Schimke immuno-osseous dysplasia
c.-48C>A Multiple submitters Schimke immuno-osseous dysplasia
p.Ala127Pro Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Ala20Gly Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Ala256Val Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Ala30Val Multiple submitters Inborn genetic diseases ⚠
p.Ala404Val Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Ala588Pro Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Ala588Ser Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Ala588Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala596Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala665Ser Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Ala786Thr Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Ala838Thr Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Arg17Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg247Pro Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Arg387His Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Arg476Gln Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Arg490Cys Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Arg490His Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Arg518His Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Arg586Gln Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Arg668Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg672Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg754Cys Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Arg754His Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Asn255Ser Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Asp459Asn Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Asp623Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp649Glu Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Asp719Glu Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Asp756Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp797Asn Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Asp884Asn Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Asp896Ala Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Asp945Gly Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Asp945Ter Multiple submitters Schimke immuno-osseous dysplasia
p.Gln183His Multiple submitters Inborn genetic diseases ⚠
p.Gln359Arg Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Gln653Arg Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Gln74Arg Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Glu102_Thr106del Multiple submitters Schimke immuno-osseous dysplasia
p.Glu142Asp Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Glu14Val Multiple submitters Inborn genetic diseases ⚠
p.Glu26Lys Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Glu317Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu344Lys Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Glu898Lys Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Gly245Ser Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Gly52Arg Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Gly809Arg Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Gly857Arg Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.His734Arg Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.His87Arg Multiple submitters Inborn genetic diseases ⚠
p.Ile259Thr Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Ile354Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile448Val Multiple submitters Inborn genetic diseases ⚠
p.Ile471Val Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Ile548Val Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Ile714Thr Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Ile755Val Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Ile882del Multiple submitters Schimke immuno-osseous dysplasia
p.Ile882Val Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Leu328Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu535Val Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Leu729Val Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Lys169Arg Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Lys289Thr Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Lys534Asn Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Lys888del Multiple submitters Schimke immuno-osseous dysplasia
p.Lys937Arg Multiple submitters Inborn genetic diseases ⚠
p.Met584Val Multiple submitters Inborn genetic diseases ⚠
p.Phe553Ile Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Phe941fs Multiple submitters Schimke immuno-osseous dysplasia
p.Pro105Leu Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Pro109Ser Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Pro152Ser Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Pro185Ser Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Pro295Leu Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Pro567Gln Multiple submitters Inborn genetic diseases ⚠
p.Pro567Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro666Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro711Leu Multiple submitters Schimke immuno-osseous dysplasia
p.Ser200Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser37Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser774Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser825Gly Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Ser912Leu Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Thr163Asn Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Thr163Ile Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Thr194Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr276Met Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Thr541Asn Multiple submitters Inborn genetic diseases ⚠
p.Thr592Arg Multiple submitters Inborn genetic diseases ⚠
p.Thr592Met Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Thr742Met Multiple submitters kidney disorder ⚠
p.Thr867Ile Multiple submitters Inborn genetic diseases ⚠
p.Trp620Cys Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Tyr141Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr872His Multiple submitters Inborn genetic diseases ⚠
p.Val242Leu Multiple submitters Inborn genetic diseases ⚠
p.Val261Glu Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Val433Met Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Val484Met Multiple submitters Inborn genetic diseases ⚠
p.Val489Met Multiple submitters Inborn genetic diseases ⚠
p.Val65Met Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Val781Met Multiple submitters Schimke immuno-osseous dysplasia ⚠
p.Val799Met Multiple submitters Inborn genetic diseases ⚠
p.Val833Met Multiple submitters Inborn genetic diseases ⚠
c.1096+4A>G Single submitter Schimke immuno-osseous dysplasia
c.1334+4G>A Single submitter Schimke immuno-osseous dysplasia
c.1485+15A>G Single submitter Schimke immuno-osseous dysplasia
c.1851+3A>G Single submitter Schimke immuno-osseous dysplasia
c.2070+5G>A Single submitter
c.2141+3A>C Single submitter Schimke immuno-osseous dysplasia
c.2248_2256dup Single submitter Schimke immuno-osseous dysplasia
c.2528+6G>C Single submitter Schimke immuno-osseous dysplasia
c.2625+1G>T Single submitter Schimke immuno-osseous dysplasia
c.2626-1G>T Single submitter Schimke immuno-osseous dysplasia
c.811+6G>A Single submitter Schimke immuno-osseous dysplasia
c.811+6G>T Single submitter Schimke immuno-osseous dysplasia
c.862+6T>A Single submitter Schimke immuno-osseous dysplasia
c.-114G>A Single submitter Schimke immuno-osseous dysplasia
c.-141G>A Single submitter Schimke immuno-osseous dysplasia
c.-164G>A Single submitter Schimke immuno-osseous dysplasia
c.-170C>T Single submitter Schimke immuno-osseous dysplasia
c.-59+1G>T Single submitter
c.-6G>A Single submitter
c.-82T>C Single submitter Schimke immuno-osseous dysplasia
c.-96+155G>A Single submitter
c.-9T>G Single submitter
c.*13G>T Single submitter Schimke immuno-osseous dysplasia
p.Ala107Thr Single submitter Schimke immuno-osseous dysplasia ⚠
p.Ala148Val Single submitter Schimke immuno-osseous dysplasia ⚠
p.Ala178Ser Single submitter Schimke immuno-osseous dysplasia ⚠
p.Ala192Thr Single submitter Inborn genetic diseases ⚠
p.Ala22fs Single submitter Schimke immuno-osseous dysplasia
p.Ala320Val Single submitter Schimke immuno-osseous dysplasia ⚠
p.Ala355Glu Single submitter Schimke immuno-osseous dysplasia ⚠
p.Ala355Val Single submitter Schimke immuno-osseous dysplasia ⚠
p.Ala404Glu Single submitter Schimke immuno-osseous dysplasia ⚠
p.Ala43Val Single submitter Schimke immuno-osseous dysplasia ⚠
p.Ala442Gly Single submitter Schimke immuno-osseous dysplasia ⚠
p.Ala457Thr Single submitter Schimke immuno-osseous dysplasia ⚠
p.Ala472Ser Single submitter Schimke immuno-osseous dysplasia ⚠
p.Ala472Val Single submitter Schimke immuno-osseous dysplasia ⚠
p.Ala572Val Single submitter Inborn genetic diseases ⚠
p.Ala607Thr Single submitter Inborn genetic diseases ⚠
p.Ala656Gly Single submitter Schimke immuno-osseous dysplasia ⚠
p.Ala675Thr Single submitter Inborn genetic diseases ⚠
p.Ala778Asp Single submitter Schimke immuno-osseous dysplasia ⚠
p.Ala778Gly Single submitter Schimke immuno-osseous dysplasia ⚠
p.Ala778Thr Single submitter Schimke immuno-osseous dysplasia ⚠
p.Ala780Thr Single submitter Inborn genetic diseases ⚠
p.Arg10Met Single submitter Schimke immuno-osseous dysplasia ⚠
p.Arg217Ser Single submitter Schimke immuno-osseous dysplasia ⚠
p.Arg221Ile Single submitter Schimke immuno-osseous dysplasia ⚠
p.Arg23Cys Single submitter Schimke immuno-osseous dysplasia ⚠
p.Arg23His Single submitter Schimke immuno-osseous dysplasia ⚠
p.Arg23Pro Single submitter Schimke immuno-osseous dysplasia ⚠
p.Arg247His Single submitter Inborn genetic diseases ⚠
p.Arg370Ser Single submitter Inborn genetic diseases ⚠
p.Arg453Cys Single submitter Schimke immuno-osseous dysplasia ⚠
p.Arg476Trp Single submitter Inborn genetic diseases ⚠
p.Arg518Cys Single submitter Schimke immuno-osseous dysplasia ⚠
p.Arg558Lys Single submitter Schimke immuno-osseous dysplasia ⚠
p.Arg563Gln Single submitter Schimke immuno-osseous dysplasia ⚠
p.Arg59Thr Single submitter Schimke immuno-osseous dysplasia ⚠
p.Arg611Cys Single submitter ⚠
p.Arg611His Single submitter Schimke immuno-osseous dysplasia ⚠
p.Arg617Gln Single submitter Schimke immuno-osseous dysplasia ⚠
p.Arg617Trp Single submitter Schimke immuno-osseous dysplasia ⚠
p.Arg659Cys Single submitter Schimke immuno-osseous dysplasia ⚠
p.Arg659His Single submitter ⚠
p.Arg672Gly Single submitter Schimke immuno-osseous dysplasia ⚠
p.Arg704Gly Single submitter Schimke immuno-osseous dysplasia ⚠
p.Arg754Gly Single submitter Schimke immuno-osseous dysplasia ⚠
p.Arg776Gly Single submitter Schimke immuno-osseous dysplasia ⚠
p.Arg817Ser Single submitter ⚠
p.Asn235Lys Single submitter Schimke immuno-osseous dysplasia ⚠
p.Asn255Asp Single submitter Schimke immuno-osseous dysplasia ⚠
p.Asn510Ser Single submitter Schimke immuno-osseous dysplasia ⚠
p.Asn670Ser Single submitter Schimke immuno-osseous dysplasia ⚠
p.Asn81Asp Single submitter Schimke immuno-osseous dysplasia ⚠
p.Asn946Lys Single submitter Schimke immuno-osseous dysplasia ⚠
p.Asn946Thr Single submitter Schimke immuno-osseous dysplasia ⚠
p.Asp517Gly Single submitter Inborn genetic diseases ⚠
p.Asp739Ala Single submitter Schimke immuno-osseous dysplasia ⚠
p.Asp83Asn Single submitter Inborn genetic diseases ⚠
p.Asp896Asn Single submitter Inborn genetic diseases ⚠
p.Cys108Arg Single submitter Schimke immuno-osseous dysplasia ⚠
p.Gln128Arg Single submitter Schimke immuno-osseous dysplasia ⚠
p.Gln128Glu Single submitter Schimke immuno-osseous dysplasia ⚠
p.Gln136Arg Single submitter Schimke immuno-osseous dysplasia ⚠
p.Gln174Arg Single submitter Schimke immuno-osseous dysplasia ⚠
p.Gln202Lys Single submitter Schimke immuno-osseous dysplasia ⚠
p.Gln223Pro Single submitter Schimke immuno-osseous dysplasia ⚠
p.Gln231His Single submitter Schimke immuno-osseous dysplasia ⚠
p.Gln237Lys Single submitter Schimke immuno-osseous dysplasia ⚠
p.Gln249Arg Single submitter Schimke immuno-osseous dysplasia ⚠
p.Gln495Pro Single submitter ⚠
p.Gln55Lys Single submitter Schimke immuno-osseous dysplasia ⚠
p.Gln74Pro Single submitter Inborn genetic diseases ⚠
p.Gln769Arg Single submitter Schimke immuno-osseous dysplasia ⚠
p.Gln770Arg Single submitter Schimke immuno-osseous dysplasia ⚠
p.Gln847= Single submitter Schimke immuno-osseous dysplasia
p.Gln84Arg Single submitter Schimke immuno-osseous dysplasia ⚠
p.Gln84Pro Single submitter Inborn genetic diseases ⚠
p.Gln9Glu Single submitter Schimke immuno-osseous dysplasia ⚠
p.Glu142Lys Single submitter Schimke immuno-osseous dysplasia ⚠
p.Glu257_Ala260del Single submitter
p.Glu31Gly Single submitter Schimke immuno-osseous dysplasia ⚠
p.Glu31Lys Single submitter Schimke immuno-osseous dysplasia ⚠
p.Glu344Gly Single submitter Schimke immuno-osseous dysplasia
p.Glu378Lys Single submitter Inborn genetic diseases
p.Glu478Asp Single submitter Schimke immuno-osseous dysplasia ⚠
p.Glu478Gly Single submitter Schimke immuno-osseous dysplasia ⚠
p.Glu60Ala Single submitter Schimke immuno-osseous dysplasia ⚠
p.Glu928Lys Single submitter Schimke immuno-osseous dysplasia ⚠
p.Gly182Asp Single submitter Schimke immuno-osseous dysplasia
p.Gly182Val Single submitter Schimke immuno-osseous dysplasia ⚠
p.Gly245Asp Single submitter Schimke immuno-osseous dysplasia ⚠
p.Gly443Arg Single submitter Schimke immuno-osseous dysplasia ⚠
p.Gly451Ala Single submitter Schimke immuno-osseous dysplasia ⚠
p.Gly68Ser Single submitter Inborn genetic diseases ⚠
p.Gly923Glu Single submitter Schimke immuno-osseous dysplasia ⚠
p.His33Tyr Single submitter ⚠
p.His67Arg Single submitter Schimke immuno-osseous dysplasia ⚠
p.His67Asn Single submitter Schimke immuno-osseous dysplasia ⚠
p.His67Pro Single submitter Schimke immuno-osseous dysplasia ⚠
p.His734Tyr Single submitter ⚠
p.His749Tyr Single submitter Schimke immuno-osseous dysplasia ⚠
p.His830Gln Single submitter Inborn genetic diseases
p.His90Pro Single submitter Schimke immuno-osseous dysplasia ⚠
p.Ile122Val Single submitter Schimke immuno-osseous dysplasia ⚠
p.Ile252Thr Single submitter Schimke immuno-osseous dysplasia ⚠
p.Ile42Phe Single submitter Schimke immuno-osseous dysplasia ⚠
p.Ile547Met Single submitter Inborn genetic diseases ⚠
p.Ile547Thr Single submitter Inborn genetic diseases ⚠
p.Ile547Val Single submitter Inborn genetic diseases ⚠
p.Ile548del Single submitter Schimke immuno-osseous dysplasia
p.Ile595Met Single submitter Inborn genetic diseases ⚠
p.Ile595Ser Single submitter Schimke immuno-osseous dysplasia ⚠
p.Ile661Arg Single submitter Schimke immuno-osseous dysplasia ⚠
p.Ile70Ser Single submitter Schimke immuno-osseous dysplasia ⚠
p.Ile714Met Single submitter Schimke immuno-osseous dysplasia ⚠
p.Ile784Val Single submitter Schimke immuno-osseous dysplasia ⚠
p.Ile850Thr Single submitter Schimke immuno-osseous dysplasia
p.Leu119Val Single submitter Inborn genetic diseases ⚠
p.Leu299Met Single submitter Schimke immuno-osseous dysplasia ⚠
p.Leu376= Single submitter
p.Leu3Val Single submitter Schimke immuno-osseous dysplasia ⚠
p.Leu409Val Single submitter SMARCAL1-related disorder ⚠
p.Leu436Met Single submitter ⚠
p.Leu481Pro Single submitter Schimke immuno-osseous dysplasia ⚠
p.Leu532Phe Single submitter Schimke immuno-osseous dysplasia ⚠
p.Leu578Ser Single submitter Schimke immuno-osseous dysplasia ⚠
p.Leu610Val Single submitter Schimke immuno-osseous dysplasia ⚠
p.Leu637Pro Single submitter Schimke immuno-osseous dysplasia ⚠
p.Leu651Gln Single submitter Schimke immuno-osseous dysplasia
p.Leu700Pro Single submitter Schimke immuno-osseous dysplasia
p.Leu721Met Single submitter Schimke immuno-osseous dysplasia ⚠
p.Leu729Phe Single submitter ⚠
p.Leu773Pro Single submitter Schimke immuno-osseous dysplasia ⚠
p.Leu900Pro Single submitter Schimke immuno-osseous dysplasia ⚠
p.Lys100Gln Single submitter Inborn genetic diseases ⚠
p.Lys135Glu Single submitter Schimke immuno-osseous dysplasia ⚠
p.Lys171Gln Single submitter Inborn genetic diseases ⚠
p.Lys196Glu Single submitter Inborn genetic diseases ⚠
p.Lys225Arg Single submitter Schimke immuno-osseous dysplasia ⚠
p.Lys238Asn Single submitter Schimke immuno-osseous dysplasia ⚠
p.Lys268Asn Single submitter Schimke immuno-osseous dysplasia ⚠
p.Lys450Arg Single submitter Inborn genetic diseases ⚠
p.Lys50Glu Single submitter Schimke immuno-osseous dysplasia ⚠
p.Lys537Glu Single submitter Inborn genetic diseases ⚠
p.Lys616Arg Single submitter Schimke immuno-osseous dysplasia ⚠
p.Lys657Arg Single submitter Schimke immuno-osseous dysplasia ⚠
p.Lys682Arg Single submitter Schimke immuno-osseous dysplasia ⚠
p.Lys682Asn Single submitter Schimke immuno-osseous dysplasia ⚠
p.Lys682Glu Single submitter Schimke immuno-osseous dysplasia ⚠
p.Lys689Glu Single submitter Schimke immuno-osseous dysplasia
p.Lys695Gln Single submitter Schimke immuno-osseous dysplasia ⚠
p.Lys727Thr Single submitter Inborn genetic diseases ⚠
p.Lys735Glu Single submitter Schimke immuno-osseous dysplasia ⚠
p.Lys748= Single submitter Schimke immuno-osseous dysplasia
p.Lys748Met Single submitter Schimke immuno-osseous dysplasia ⚠
p.Lys748Thr Single submitter Inborn genetic diseases ⚠
p.Met281Val Single submitter Schimke immuno-osseous dysplasia ⚠
p.Met360Val Single submitter ⚠
p.Met437Ile Single submitter Schimke immuno-osseous dysplasia ⚠
p.Met566Leu Single submitter Schimke immuno-osseous dysplasia ⚠
p.Met584Thr Single submitter Schimke immuno-osseous dysplasia ⚠
p.Met922Val Single submitter Schimke immuno-osseous dysplasia ⚠
p.Phe262Leu Single submitter Inborn genetic diseases ⚠
p.Phe330Tyr Single submitter Schimke immuno-osseous dysplasia ⚠
p.Phe343Ser Single submitter Schimke immuno-osseous dysplasia ⚠
p.Phe357Leu Single submitter Schimke immuno-osseous dysplasia ⚠
p.Phe374Leu Single submitter Inborn genetic diseases ⚠
p.Phe405Cys Single submitter Inborn genetic diseases ⚠
p.Phe439Leu Single submitter Schimke immuno-osseous dysplasia ⚠