CNTN1 — 711 ClinVar variants

All ClinVar germline CNTN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 273 flagged for review →

16 Pathogenic · 1 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 12 Conflicting · 70 Benign · 12 Benign/Likely benign · 313 Likely benign · 281 Uncertain significance

Full CNTN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 273

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 4

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

CNTN1 p.Asn367Asp Conflicting Single submitter
Inborn genetic diseases
CNTN1 p.Gly882Arg Conflicting Single submitter
Compton-North congenital myopathy
CNTN1 p.Met93Thr Conflicting Single submitter
Compton-North congenital myopathy
CNTN1 p.Pro776Ser Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 150

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

CNTN1 p.Ala514Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Ala799Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Ala930Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Arg324Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Arg571Gln Uncertain significance Multiple submitters
Compton-North congenital myopathy
CNTN1 p.Arg626Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Arg680Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Arg920His Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Asn565Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Asp36Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Asp89Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Glu869Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Gly1004Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Gly1011Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Gly605Asp Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Gly703Ser Uncertain significance Multiple submitters
Compton-North congenital myopathy
CNTN1 p.Gly751Glu Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.His336Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Ile218Val Uncertain significance Multiple submitters
Compton-North congenital myopathy
CNTN1 p.Ile232Val Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Ile288Val Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Ile481Thr Uncertain significance Multiple submitters
Compton-North congenital myopathy
CNTN1 p.Ile896Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Leu1013Ile Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Leu1013Phe Uncertain significance Multiple submitters
Compton-North congenital myopathy
CNTN1 p.Leu1016Ser Uncertain significance Multiple submitters
Compton-North congenital myopathy
CNTN1 p.Leu622Phe Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Lys105Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Met895Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Phe188Leu Uncertain significance Multiple submitters
Compton-North congenital myopathy
CNTN1 p.Pro351Ser Uncertain significance Multiple submitters
Compton-North congenital myopathy
CNTN1 p.Pro762Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Ser62Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Val189Leu Uncertain significance Multiple submitters
Compton-North congenital myopathy
CNTN1 p.Val245Ile Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Val342Met Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Val973Ile Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Ala370Val Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Ala522Thr Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Ala728Glu Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Ala728Val Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Ala811Gly Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Arg143Gly Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Arg143Pro Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Arg143Ser Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Arg187Leu Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Arg431Lys Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Arg580Lys Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Asn102His Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Asn472His Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Asn489Ile Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Asn630Asp Uncertain significance Single submitter
CNTN1 p.Asn789Asp Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Asp343Asn Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Asp515Tyr Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Asp874Asn Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Asp969Gly Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Gln525Arg Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Gln586Arg Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Glu1017Ala Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Glu21Gly Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Glu44Val Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Glu453Asp Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Glu54Lys Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Glu552Gln Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Gly133Glu Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Gly153Arg Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Gly317Arg Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Gly317Glu Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Gly429Cys Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Gly544Asp Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Gly544Val Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Gly715Asp Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Gly718Glu Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Gly816Asp Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Gly888Val Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Gly939Val Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.His372Gln Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.His555Arg Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.His848Asn Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.His848Pro Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.His927Pro Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.His9Gln Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Ile15Val Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Ile181Val Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Ile218Thr Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Ile232Thr Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Ile307Val Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Ile392Val Uncertain significance Single submitter
CNTN1 p.Ile424Thr Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Ile433Lys Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Ile588Val Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Ile644Ser Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Ile743Val Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Ile842Val Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Ile966Val Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Leu254Trp Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Leu509Ser Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Leu833Ser Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Lys249Arg Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Lys439Glu Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Lys650Glu Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Lys76Arg Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Met122Ile Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Met417Val Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Met561Val Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Met895Ile Uncertain significance Single submitter
CNTN1 p.Phe679Ile Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Pro1000Ser Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Pro1008Leu Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Pro216Ser Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Pro231Leu Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Pro269Thr Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Pro271Leu Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Pro360Ala Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Pro511Ser Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Pro73Leu Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Pro812Leu Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Pro909Ala Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Ser14Thr Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Ser221Arg Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Ser625Ile Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Ser62Leu Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Ser632Asn Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Ser731Leu Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Ser775Arg Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Ser775Ile Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Ser809Thr Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Ser8Gly Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Thr17Pro Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Thr236Lys Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Thr23Ser Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Thr290Ile Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Thr355Ala Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Thr641Ser Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Thr87Lys Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Thr997Asn Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Trp464Ser Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Tyr28His Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Tyr369Asp Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Tyr397Cys Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Tyr482His Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Tyr844His Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Val123Ile Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Val146Ile Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Val251Ile Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Val432Glu Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Val600Ala Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Val681Met Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Val837Gly Uncertain significance Single submitter
Compton-North congenital myopathy

Predictors split 119

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

CNTN1 p.Ala410Val Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Ala528Val Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Ala668Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Ala995Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Arg274Gln Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Arg276Trp Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Arg363Gln Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Arg626His Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Arg680His Uncertain significance Multiple submitters
Compton-North congenital myopathy
CNTN1 p.Arg977Cys Benign/Likely benign Multiple submitters
Compton-North congenital myopathy
CNTN1 p.Asn457Asp Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Asp167Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Asp503Val Uncertain significance Multiple submitters
Compton-North congenital myopathy
CNTN1 p.Glu303Gln Uncertain significance Multiple submitters
Compton-North congenital myopathy
CNTN1 p.Ile244Val Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Leu365Phe Uncertain significance Multiple submitters
Compton-North congenital myopathy
CNTN1 p.Pro137Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Ser1001Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Ser215Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Ser215Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Ser564Phe Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Val669Met Uncertain significance Multiple submitters
Compton-North congenital myopathy
CNTN1 p.Val832Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Val832Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CNTN1 p.Val94Ala Uncertain significance Multiple submitters
Compton-North congenital myopathy
CNTN1 p.Ala242Thr Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Ala402Val Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Ala427Gly Conflicting Single submitter
Compton-North congenital myopathy
CNTN1 p.Ala573Val Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Ala585Val Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Ala666Ser Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Ala799Val Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Ala846Val Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Arg171His Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Arg171Leu Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Arg187Gln Uncertain significance Single submitter
CNTN1 p.Arg276Gln Conflicting Single submitter
Inborn genetic diseases
CNTN1 p.Arg460Ser Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Arg506Gln Uncertain significance Single submitter
CNTN1 p.Arg68Gln Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Arg766Gln Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Arg766Leu Conflicting Single submitter
Inborn genetic diseases
CNTN1 p.Arg843Gln Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Arg843Trp Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Arg90Gln Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Arg920Cys Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Arg977His Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Asn208Ser Uncertain significance Single submitter
CNTN1 p.Asn258Lys Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Asn258Ser Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Asn299Asp Uncertain significance Single submitter
CNTN1 p.Asn521Lys Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Asn739Ser Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Asp380Glu Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Asp503Ala Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Asp548Asn Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Asp597His Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Asp792Val Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Asp806Gly Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Asp874His Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Gln257Arg Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Gln301Glu Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Gln876Glu Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Glu303Ala Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Glu384Gly Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Glu453Gly Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Glu676Gln Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Gly1011Asp Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Gly345Ala Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Gly398Ala Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Gly605Ser Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Gly714Arg Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Gly716Arg Conflicting Single submitter
Inborn genetic diseases
CNTN1 p.Gly765Asp Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Gly952Ser Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.His577Gln Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Ile111Met Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Ile461Leu Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Ile612Met Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Ile725Val Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Ile825Val Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Ile962Leu Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Leu723Val Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Leu998Pro Likely benign Single submitter
Inborn genetic diseases
CNTN1 p.Lys206Asn Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Lys357Thr Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Lys445Met Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Lys650Asn Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Lys790Thr Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Met420Thr Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Met420Val Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Phe226Leu Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Phe749Cys Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Pro137Ala Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Pro233Ala Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Pro419Thr Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Pro656Ser Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Pro762Arg Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Pro762Ser Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Ser495Asn Conflicting Single submitter
Inborn genetic diseases
CNTN1 p.Ser865Leu Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Ser88Gly Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Thr23Ile Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Thr582Ile Likely benign Single submitter
Compton-North congenital myopathy
CNTN1 p.Thr638Ala Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Thr638Asn Uncertain significance Single submitter
CNTN1 p.Thr773Ile Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Thr938Met Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Trp454Cys Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Tyr209Phe Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Tyr91His Uncertain significance Single submitter
CNTN1 p.Val259Met Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Val432Met Likely benign Single submitter
Compton-North congenital myopathy
CNTN1 p.Val546Leu Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Val74Gly Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Val7Asp Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Val815Ala Uncertain significance Single submitter
Compton-North congenital myopathy
CNTN1 p.Val817Gly Uncertain significance Single submitter
Inborn genetic diseases
CNTN1 p.Val99Ala Uncertain significance Single submitter

All CNTN1 variants

Pathogenic 16

p.Arg571Ter Single submitter Compton-North congenital myopathy
p.Arg90Ter Single submitter Compton-North congenital myopathy
p.Gln247Ter Single submitter Compton-North congenital myopathy
p.Glu21fs Single submitter Compton-North congenital myopathy
p.Glu838Ter Single submitter Compton-North congenital myopathy
p.Glu975Ter Single submitter Compton-North congenital myopathy
p.Ile359fs Single submitter Compton-North congenital myopathy
p.Lys835_Ile836insTer Single submitter Compton-North congenital myopathy
p.Phe878fs Single submitter Compton-North congenital myopathy
p.Ser932Ter Single submitter Compton-North congenital myopathy
p.Thr758fs Single submitter Compton-North congenital myopathy
p.Trp454Ter Single submitter Compton-North congenital myopathy
p.Tyr162fs Single submitter Compton-North congenital myopathy
p.Val539fs Single submitter Compton-North congenital myopathy
p.Val74fs Single submitter Compton-North congenital myopathy
p.Ser291fs No assertion criteria Compton-North congenital myopathy

Pathogenic/Likely pathogenic 1

p.Gly491fs Multiple submitters Compton-North congenital myopathy

Likely pathogenic 6

c.1683+1G>A Single submitter Compton-North congenital myopathy
c.2597_2710+7delinsTT Single submitter Compton-North congenital myopathy
c.2711-1G>A Single submitter Compton-North congenital myopathy
c.704-1G>A Single submitter Compton-North congenital myopathy
c.94+2T>C Single submitter Compton-North congenital myopathy
p.Arg68Ter Single submitter

Conflicting classifications of pathogenicity 12

p.Ala427Gly Single submitter Compton-North congenital myopathy ⚠
p.Arg276Gln Single submitter Inborn genetic diseases ⚠
p.Arg766Leu Single submitter Inborn genetic diseases ⚠
p.Asn367Asp Single submitter Inborn genetic diseases ⚠
p.Cys211= Single submitter Compton-North congenital myopathy
p.Cys583= Single submitter Compton-North congenital myopathy
p.Gln257= Single submitter Compton-North congenital myopathy
p.Gly716Arg Single submitter Inborn genetic diseases ⚠
p.Gly882Arg Single submitter Compton-North congenital myopathy ⚠
p.Met93Thr Single submitter Compton-North congenital myopathy ⚠
p.Pro776Ser Single submitter Inborn genetic diseases ⚠
p.Ser495Asn Single submitter Inborn genetic diseases ⚠

Benign 70

c.1110+67G>A Multiple submitters
c.1111-72C>A Multiple submitters
c.1228+123T>C Multiple submitters
c.1683+67A>G Multiple submitters
c.1805-14C>A Multiple submitters Compton-North congenital myopathy
c.2113+35A>G Multiple submitters
c.2113+39C>G Multiple submitters
c.2184+34G>A Multiple submitters
c.2419+45G>T Multiple submitters
c.2711-17A>G Multiple submitters Compton-North congenital myopathy
c.2980+19A>T Multiple submitters Compton-North congenital myopathy
c.2981-72T>C Multiple submitters
c.2981-81C>T Multiple submitters
c.400+151A>C Multiple submitters
c.401-190G>T Multiple submitters
c.401-94C>T Multiple submitters
c.401-9C>T Multiple submitters Compton-North congenital myopathy
c.62-50A>C Multiple submitters
c.803+64T>G Multiple submitters
c.803+65G>T Multiple submitters
c.95-76A>T Multiple submitters
c.986-16del Multiple submitters Compton-North congenital myopathy
c.986-52T>C Multiple submitters
c.-189C>A Multiple submitters
c.-76-51C>G Multiple submitters
c.*166G>A Multiple submitters
p.Ala652= Multiple submitters Compton-North congenital myopathy
p.Asn338= Multiple submitters Compton-North congenital myopathy
p.Asn472= Multiple submitters Compton-North congenital myopathy
p.Gly890= Multiple submitters Compton-North congenital myopathy
p.His30= Multiple submitters Compton-North congenital myopathy
p.His631= Multiple submitters Compton-North congenital myopathy
p.Ser775Asn Multiple submitters Compton-North congenital myopathy
p.Val929Ile Multiple submitters Compton-North congenital myopathy
c.1228+236A>T Single submitter
c.1228+308A>C Single submitter
c.1229-86dup Single submitter
c.1379+114del Single submitter
c.1379+73A>G Single submitter
c.1683+121G>A Single submitter
c.1805-9354del Single submitter Compton-North congenital myopathy
c.1963+126T>A Single submitter
c.1963+237A>G Single submitter
c.1963+85dup Single submitter
c.1964-159C>G Single submitter
c.1964-179A>T Single submitter
c.2113+280dup Single submitter
c.2185-219C>G Single submitter
c.2185-231C>T Single submitter
c.227+23dup Single submitter Compton-North congenital myopathy
c.228-8del Single submitter Compton-North congenital myopathy
c.2419+304_2419+305del Single submitter
c.2523+115A>C Single submitter
c.2524-171C>G Single submitter
c.2823+283G>A Single submitter
c.2981-238C>A Single submitter
c.496+166T>C Single submitter
c.496+212T>A Single submitter
c.496+230AT[14] Single submitter
c.496+230AT[15] Single submitter
c.496+230AT[18] Single submitter
c.496+230AT[19] Single submitter
c.496+230AT[9] Single submitter
c.497-118C>T Single submitter
c.61+129A>G Single submitter
c.62-14del Single submitter Compton-North congenital myopathy
c.62-3del Single submitter Compton-North congenital myopathy
c.95-294G>A Single submitter
c.-12A>G Single submitter
c.-77+241A>G Single submitter

Benign/Likely benign 12

c.1507+19G>T Multiple submitters Compton-North congenital myopathy
c.401-14del Multiple submitters Compton-North congenital myopathy
c.497-17G>T Multiple submitters Compton-North congenital myopathy
p.Ala69= Multiple submitters Compton-North congenital myopathy
p.Ala866= Multiple submitters Compton-North congenital myopathy
p.Arg977Cys Multiple submitters Compton-North congenital myopathy ⚠
p.Asn521= Multiple submitters Compton-North congenital myopathy
p.Cys18= Multiple submitters Compton-North congenital myopathy
p.Gly467= Multiple submitters Compton-North congenital myopathy
p.His831= Multiple submitters Compton-North congenital myopathy
p.Ser291= Multiple submitters Compton-North congenital myopathy
p.Tyr637= Multiple submitters Compton-North congenital myopathy

Likely benign 313

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

c.1229-85G>A Multiple submitters
c.1229-92C>T Multiple submitters
c.1963+96A>G Multiple submitters
c.2114-17T>G Multiple submitters Compton-North congenital myopathy
c.2114-20T>C Multiple submitters Compton-North congenital myopathy
c.227+69C>T Multiple submitters
c.2523+4C>T Multiple submitters Compton-North congenital myopathy
c.2823+58A>G Multiple submitters
c.2823+5A>G Multiple submitters Compton-North congenital myopathy
c.2824-6T>C Multiple submitters Compton-North congenital myopathy
c.400+13T>C Multiple submitters Compton-North congenital myopathy
c.61+56G>A Multiple submitters
c.61+79A>C Multiple submitters
c.62-189C>T Multiple submitters
c.804-8A>G Multiple submitters Compton-North congenital myopathy
c.*210A>G Multiple submitters
p.Ala898= Multiple submitters Compton-North congenital myopathy
p.Asn395= Multiple submitters Compton-North congenital myopathy
p.Asn49= Multiple submitters Compton-North congenital myopathy
p.Cys114= Multiple submitters Compton-North congenital myopathy
p.Gln574= Multiple submitters Compton-North congenital myopathy
p.Glu851= Multiple submitters Compton-North congenital myopathy
p.His828= Multiple submitters Inborn genetic diseases
p.Leu302Pro Multiple submitters Compton-North congenital myopathy
p.Leu868= Multiple submitters Compton-North congenital myopathy
p.Met417Ile Multiple submitters Compton-North congenital myopathy
p.Ser625= Multiple submitters Compton-North congenital myopathy
p.Thr285= Multiple submitters Compton-North congenital myopathy
p.Tyr972= Multiple submitters Compton-North congenital myopathy
p.Val976= Multiple submitters Compton-North congenital myopathy
c.1110+15G>A Single submitter Compton-North congenital myopathy
c.1110+16T>G Single submitter Compton-North congenital myopathy
c.1110+18C>A Single submitter Compton-North congenital myopathy
c.1111-202G>A Single submitter
c.1111-7T>C Single submitter Compton-North congenital myopathy
c.1228+10A>G Single submitter Compton-North congenital myopathy
c.1228+249T>C Single submitter
c.1228+8T>C Single submitter Compton-North congenital myopathy
c.1229-113G>A Single submitter
c.1229-19C>A Single submitter Compton-North congenital myopathy
c.1229-204T>C Single submitter
c.1229-8del Single submitter Compton-North congenital myopathy
c.1379+16A>C Single submitter Compton-North congenital myopathy
c.1380-149C>T Single submitter
c.1380-14T>G Single submitter Compton-North congenital myopathy
c.1380-18A>G Single submitter Compton-North congenital myopathy
c.1380-326G>A Single submitter
c.1507+10T>C Single submitter Compton-North congenital myopathy
c.1507+15G>T Single submitter Compton-North congenital myopathy
c.1507+17G>A Single submitter Compton-North congenital myopathy
c.1508-13del Single submitter Compton-North congenital myopathy
c.1508-16A>G Single submitter Compton-North congenital myopathy
c.1508-4A>G Single submitter Compton-North congenital myopathy
c.1508-5T>C Single submitter Compton-North congenital myopathy
c.1508-6A>G Single submitter Compton-North congenital myopathy
c.1804+13A>C Single submitter Compton-North congenital myopathy
c.1804+16T>A Single submitter Compton-North congenital myopathy
c.1804+321T>A Single submitter
c.1804+7G>A Single submitter Compton-North congenital myopathy
c.1804+7G>C Single submitter Compton-North congenital myopathy
c.1805-17C>T Single submitter Compton-North congenital myopathy
c.1963+10_1963+13del Single submitter Compton-North congenital myopathy
c.1964-15A>C Single submitter Compton-North congenital myopathy
c.1964-17C>A Single submitter Compton-North congenital myopathy
c.2113+294del Single submitter
c.2113+309_2113+312del Single submitter
c.2113+7A>G Single submitter Compton-North congenital myopathy
c.2114-15del Single submitter Compton-North congenital myopathy
c.2114-17T>A Single submitter Compton-North congenital myopathy
c.2114-19A>G Single submitter Compton-North congenital myopathy
c.2184+10G>A Single submitter Compton-North congenital myopathy
c.2184+15G>C Single submitter Compton-North congenital myopathy
c.2184+217G>A Single submitter
c.2185-11T>C Single submitter
c.2185-344G>C Single submitter
c.2185-6A>G Single submitter Compton-North congenital myopathy
c.227+10C>T Single submitter Compton-North congenital myopathy
c.227+12C>T Single submitter Compton-North congenital myopathy
c.227+13G>A Single submitter Compton-North congenital myopathy
c.227+20T>C Single submitter Compton-North congenital myopathy
c.228-5C>A Single submitter Compton-North congenital myopathy
c.228-5C>T Single submitter Compton-North congenital myopathy
c.2419+21_2419+23del Single submitter Compton-North congenital myopathy
c.2420-13C>T Single submitter Compton-North congenital myopathy
c.2420-16del Single submitter Compton-North congenital myopathy
c.2420-328del Single submitter
c.2523+12T>C Single submitter Compton-North congenital myopathy
c.2523+257C>T Single submitter
c.2523+51C>T Single submitter
c.2524-10A>G Single submitter Compton-North congenital myopathy
c.2524-11A>T Single submitter Compton-North congenital myopathy
c.2524-162T>G Single submitter
c.2524-16T>C Single submitter Compton-North congenital myopathy
c.2524-19T>A Single submitter Compton-North congenital myopathy
c.2524-20C>T Single submitter Compton-North congenital myopathy
c.2524-6T>C Single submitter Compton-North congenital myopathy
c.2524-9T>C Single submitter Compton-North congenital myopathy
c.2710+12G>A Single submitter Compton-North congenital myopathy
c.2710+20T>C Single submitter Compton-North congenital myopathy
c.2710+296A>G Single submitter
c.2711-11A>G Single submitter Compton-North congenital myopathy
c.2711-19A>G Single submitter Compton-North congenital myopathy
c.2823+184T>C Single submitter
c.2823+189A>T Single submitter
c.2823+18T>A Single submitter Compton-North congenital myopathy
c.2823+18T>C Single submitter Compton-North congenital myopathy
c.2823+244G>A Single submitter
c.2823+56C>G Single submitter
c.2824-15T>A Single submitter Compton-North congenital myopathy
c.2980+7G>A Single submitter Compton-North congenital myopathy
c.2981-12T>C Single submitter Compton-North congenital myopathy
c.2981-18T>C Single submitter Compton-North congenital myopathy
c.400+287G>C Single submitter
c.400+8A>C Single submitter Compton-North congenital myopathy
c.400+8A>G Single submitter Compton-North congenital myopathy
c.401-17T>G Single submitter Compton-North congenital myopathy
c.401-6A>G Single submitter Compton-North congenital myopathy
c.401-8G>A Single submitter Compton-North congenital myopathy
c.401-8G>T Single submitter
c.401-9C>G Single submitter Compton-North congenital myopathy
c.496+181G>A Single submitter
c.496+18C>G Single submitter Compton-North congenital myopathy
c.496+20_496+23del Single submitter Compton-North congenital myopathy
c.496+230AT[21] Single submitter
c.497-112C>T Single submitter
c.497-16C>T Single submitter Compton-North congenital myopathy
c.497-19A>T Single submitter Compton-North congenital myopathy
c.497-267C>G Single submitter
c.497-4C>T Single submitter Compton-North congenital myopathy
c.61+11T>G Single submitter Compton-North congenital myopathy
c.61+12C>A Single submitter Compton-North congenital myopathy
c.61+16T>C Single submitter Compton-North congenital myopathy
c.61+74G>A Single submitter
c.62-15T>C Single submitter Compton-North congenital myopathy
c.62-7T>A Single submitter Compton-North congenital myopathy
c.703+15T>G Single submitter Compton-North congenital myopathy
c.703+17T>A Single submitter Compton-North congenital myopathy
c.704-11C>G Single submitter Compton-North congenital myopathy
c.803+14C>T Single submitter Compton-North congenital myopathy
c.803+15A>G Single submitter Compton-North congenital myopathy
c.803+7A>G Single submitter Compton-North congenital myopathy
c.803+9A>T Single submitter Compton-North congenital myopathy
c.804-13C>G Single submitter Compton-North congenital myopathy
c.804-17G>C Single submitter Compton-North congenital myopathy
c.804-19T>C Single submitter Compton-North congenital myopathy
c.804-20C>T Single submitter Compton-North congenital myopathy
c.804-7T>C Single submitter Compton-North congenital myopathy
c.94+10C>T Single submitter Compton-North congenital myopathy
c.94+15G>C Single submitter Compton-North congenital myopathy
c.94+19A>G Single submitter Compton-North congenital myopathy
c.95-5T>C Single submitter Compton-North congenital myopathy
c.95-7C>A Single submitter Compton-North congenital myopathy
c.985+20T>A Single submitter
c.985+211G>C Single submitter
c.985+8del Single submitter Compton-North congenital myopathy
c.986-16G>A Single submitter Compton-North congenital myopathy
c.986-16G>C Single submitter Compton-North congenital myopathy
c.-76-325T>G Single submitter
p.Ala116= Single submitter Compton-North congenital myopathy
p.Ala242= Single submitter Compton-North congenital myopathy
p.Ala286= Single submitter Compton-North congenital myopathy
p.Ala386= Single submitter Compton-North congenital myopathy
p.Ala399= Single submitter Compton-North congenital myopathy
p.Ala410= Single submitter Compton-North congenital myopathy
p.Ala427= Single submitter Compton-North congenital myopathy
p.Ala441= Single submitter Compton-North congenital myopathy
p.Ala514= Single submitter Compton-North congenital myopathy
p.Ala522= Single submitter Compton-North congenital myopathy
p.Ala528= Single submitter Compton-North congenital myopathy
p.Ala573= Single submitter Compton-North congenital myopathy
p.Ala67= Single submitter Compton-North congenital myopathy
p.Ala705= Single submitter Compton-North congenital myopathy
p.Ala978= Single submitter Compton-North congenital myopathy
p.Arg143= Single submitter Compton-North congenital myopathy
p.Arg147= Single submitter Compton-North congenital myopathy
p.Arg186= Single submitter Compton-North congenital myopathy
p.Arg274= Single submitter Compton-North congenital myopathy
p.Arg316= Single submitter Compton-North congenital myopathy
p.Arg506= Single submitter Compton-North congenital myopathy
p.Arg698Lys Single submitter Inborn genetic diseases
p.Arg721= Single submitter Compton-North congenital myopathy
p.Arg90= Single submitter Compton-North congenital myopathy
p.Arg910= Single submitter Compton-North congenital myopathy
p.Arg977= Single submitter Compton-North congenital myopathy
p.Asn314= Single submitter Compton-North congenital myopathy
p.Asn338Ser Single submitter Compton-North congenital myopathy
p.Asn543= Single submitter Compton-North congenital myopathy
p.Asn685= Single submitter Compton-North congenital myopathy
p.Asn789= Single submitter Compton-North congenital myopathy
p.Asp250= Single submitter Compton-North congenital myopathy
p.Asp319= Single submitter Compton-North congenital myopathy
p.Asp347= Single submitter Compton-North congenital myopathy
p.Asp466= Single submitter Compton-North congenital myopathy
p.Asp614= Single submitter Compton-North congenital myopathy
p.Asp702= Single submitter Compton-North congenital myopathy
p.Asp83= Single submitter Compton-North congenital myopathy
p.Asp894= Single submitter Compton-North congenital myopathy
p.Asp951= Single submitter Compton-North congenital myopathy
p.Gln191= Single submitter Compton-North congenital myopathy
p.Gln46= Single submitter Compton-North congenital myopathy
p.Gln907= Single submitter Compton-North congenital myopathy
p.Glu44= Single submitter Compton-North congenital myopathy
p.Glu552= Single submitter Compton-North congenital myopathy
p.Gly110= Single submitter Compton-North congenital myopathy
p.Gly207= Single submitter Compton-North congenital myopathy
p.Gly306= Single submitter Compton-North congenital myopathy
p.Gly374= Single submitter Compton-North congenital myopathy
p.Gly497= Single submitter Compton-North congenital myopathy
p.Gly609= Single submitter Compton-North congenital myopathy
p.Gly717= Single submitter Compton-North congenital myopathy
p.Gly816= Single submitter Compton-North congenital myopathy
p.Gly82= Single submitter Compton-North congenital myopathy
p.Gly882= Single submitter Compton-North congenital myopathy
p.Gly888= Single submitter Compton-North congenital myopathy
p.Gly918= Single submitter Compton-North congenital myopathy
p.Gly970= Single submitter Compton-North congenital myopathy
p.His336= Single submitter Compton-North congenital myopathy
p.His372= Single submitter Compton-North congenital myopathy
p.His769= Single submitter Compton-North congenital myopathy
p.His960= Single submitter Compton-North congenital myopathy
p.Ile434= Single submitter Compton-North congenital myopathy
p.Ile516Val Single submitter Compton-North congenital myopathy
p.Ile547= Single submitter Compton-North congenital myopathy
p.Ile554= Single submitter Compton-North congenital myopathy
p.Ile644= Single submitter Compton-North congenital myopathy
p.Ile672= Single submitter Compton-North congenital myopathy
p.Ile694Thr Single submitter Compton-North congenital myopathy
p.Ile923= Single submitter Compton-North congenital myopathy
p.Leu19Ser Single submitter Compton-North congenital myopathy
p.Leu254= Single submitter Compton-North congenital myopathy
p.Leu406= Single submitter Compton-North congenital myopathy
p.Leu425= Single submitter Compton-North congenital myopathy
p.Leu455= Single submitter Compton-North congenital myopathy
p.Leu569= Single submitter
p.Leu575= Single submitter Compton-North congenital myopathy
p.Leu610= Single submitter Compton-North congenital myopathy
p.Leu63= Single submitter Compton-North congenital myopathy
p.Leu687= Single submitter Compton-North congenital myopathy
p.Leu723= Single submitter Compton-North congenital myopathy
p.Leu730= Single submitter Compton-North congenital myopathy
p.Leu998Pro Single submitter Inborn genetic diseases ⚠
p.Lys105= Single submitter Compton-North congenital myopathy
p.Lys220= Single submitter Compton-North congenital myopathy
p.Lys277= Single submitter Compton-North congenital myopathy
p.Lys636Thr Single submitter Compton-North congenital myopathy
p.Lys700= Single submitter
p.Lys76= Single submitter Inborn genetic diseases
p.Lys818= Single submitter Compton-North congenital myopathy
p.Phe1018= Single submitter Compton-North congenital myopathy
p.Phe530= Single submitter Compton-North congenital myopathy
p.Phe542= Single submitter Compton-North congenital myopathy
p.Phe72= Single submitter Compton-North congenital myopathy
p.Pro160= Single submitter Compton-North congenital myopathy
p.Pro231= Single submitter Compton-North congenital myopathy
p.Pro271= Single submitter Compton-North congenital myopathy
p.Pro413= Single submitter Compton-North congenital myopathy
p.Pro442= Single submitter Compton-North congenital myopathy
p.Pro603= Single submitter Compton-North congenital myopathy
p.Pro692= Single submitter Compton-North congenital myopathy
p.Pro73= Single submitter Compton-North congenital myopathy
p.Pro748= Single submitter Compton-North congenital myopathy
p.Pro794= Single submitter Compton-North congenital myopathy
p.Pro904= Single submitter Compton-North congenital myopathy
p.Pro909= Single submitter Compton-North congenital myopathy
p.Ser14= Single submitter Compton-North congenital myopathy
p.Ser204= Single submitter Compton-North congenital myopathy
p.Ser217= Single submitter Compton-North congenital myopathy
p.Ser447= Single submitter Compton-North congenital myopathy
p.Ser56= Single submitter Compton-North congenital myopathy
p.Ser564= Single submitter
p.Ser635= Single submitter Compton-North congenital myopathy
p.Ser696= Single submitter Compton-North congenital myopathy
p.Ser865= Single submitter Compton-North congenital myopathy
p.Ser917= Single submitter Compton-North congenital myopathy
p.Ser935= Single submitter Compton-North congenital myopathy
p.Thr355= Single submitter Compton-North congenital myopathy
p.Thr452= Single submitter Compton-North congenital myopathy
p.Thr483= Single submitter Compton-North congenital myopathy
p.Thr505= Single submitter Compton-North congenital myopathy
p.Thr582= Single submitter Compton-North congenital myopathy
p.Thr582Ile Single submitter Compton-North congenital myopathy ⚠
p.Thr684= Single submitter Compton-North congenital myopathy
p.Thr686= Single submitter Compton-North congenital myopathy
p.Thr724= Single submitter Compton-North congenital myopathy
p.Thr726= Single submitter
p.Thr764= Single submitter Compton-North congenital myopathy
p.Thr924= Single submitter Compton-North congenital myopathy
p.Thr938= Single submitter Compton-North congenital myopathy
p.Tyr120= Single submitter Compton-North congenital myopathy
p.Tyr240= Single submitter Compton-North congenital myopathy
p.Tyr252= Single submitter Compton-North congenital myopathy
p.Tyr28= Single submitter Compton-North congenital myopathy
p.Tyr75= Single submitter Compton-North congenital myopathy
p.Tyr767= Single submitter Compton-North congenital myopathy
p.Val146= Single submitter Compton-North congenital myopathy
p.Val155= Single submitter Compton-North congenital myopathy
p.Val245= Single submitter Compton-North congenital myopathy
p.Val259= Single submitter Compton-North congenital myopathy
p.Val294= Single submitter Compton-North congenital myopathy
p.Val432Met Single submitter Compton-North congenital myopathy ⚠

Uncertain significance 281

p.Ala410Val Multiple submitters Inborn genetic diseases ⚠
p.Ala514Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala528Val Multiple submitters Inborn genetic diseases ⚠
p.Ala668Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala799Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala930Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala995Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg274Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg276Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg324Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg363Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg571Gln Multiple submitters Compton-North congenital myopathy ⚠
p.Arg626Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg626His Multiple submitters Inborn genetic diseases ⚠
p.Arg680Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg680His Multiple submitters Compton-North congenital myopathy ⚠
p.Arg920His Multiple submitters Inborn genetic diseases ⚠
p.Asn457Asp Multiple submitters Inborn genetic diseases ⚠
p.Asn565Ser Multiple submitters Inborn genetic diseases ⚠
p.Asp167Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp36Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp503Val Multiple submitters Compton-North congenital myopathy ⚠
p.Asp89Asn Multiple submitters Inborn genetic diseases ⚠
p.Glu303Gln Multiple submitters Compton-North congenital myopathy ⚠
p.Glu869Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly1004Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly1011Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly605Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly703Ser Multiple submitters Compton-North congenital myopathy ⚠
p.Gly751Glu Multiple submitters Inborn genetic diseases ⚠
p.His336Tyr Multiple submitters Inborn genetic diseases ⚠
p.Ile218Val Multiple submitters Compton-North congenital myopathy ⚠
p.Ile232Val Multiple submitters Inborn genetic diseases ⚠
p.Ile244Val Multiple submitters Inborn genetic diseases ⚠
p.Ile288Val Multiple submitters Inborn genetic diseases ⚠
p.Ile481Thr Multiple submitters Compton-North congenital myopathy ⚠
p.Ile896Thr Multiple submitters Inborn genetic diseases ⚠
p.Leu1013Ile Multiple submitters Inborn genetic diseases ⚠
p.Leu1013Phe Multiple submitters Compton-North congenital myopathy ⚠
p.Leu1016Ser Multiple submitters Compton-North congenital myopathy ⚠
p.Leu365Phe Multiple submitters Compton-North congenital myopathy ⚠
p.Leu622Phe Multiple submitters Inborn genetic diseases ⚠
p.Lys105Arg Multiple submitters Inborn genetic diseases ⚠
p.Met895Leu Multiple submitters Inborn genetic diseases ⚠
p.Phe188Leu Multiple submitters Compton-North congenital myopathy ⚠
p.Pro137Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro165= Multiple submitters Compton-North congenital myopathy
p.Pro351Ser Multiple submitters Compton-North congenital myopathy ⚠
p.Pro762Ala Multiple submitters Inborn genetic diseases ⚠
p.Ser1001Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser215Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser215Gly Multiple submitters Inborn genetic diseases ⚠
p.Ser564Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser62Ala Multiple submitters Inborn genetic diseases ⚠
p.Val189Leu Multiple submitters Compton-North congenital myopathy ⚠
p.Val245Ile Multiple submitters Inborn genetic diseases ⚠
p.Val342Met Multiple submitters Inborn genetic diseases ⚠
p.Val669Met Multiple submitters Compton-North congenital myopathy ⚠
p.Val832Ala Multiple submitters Inborn genetic diseases ⚠
p.Val832Gly Multiple submitters Inborn genetic diseases ⚠
p.Val94Ala Multiple submitters Compton-North congenital myopathy ⚠
p.Val973Ile Multiple submitters Inborn genetic diseases ⚠
c.1110+8T>A Single submitter Compton-North congenital myopathy
c.1228+4A>G Single submitter Compton-North congenital myopathy
c.1508-3T>C Single submitter Compton-North congenital myopathy
c.1683+3A>T Single submitter Compton-North congenital myopathy
c.1804+5G>A Single submitter Compton-North congenital myopathy
c.1805-3C>T Single submitter Compton-North congenital myopathy
c.228-3_228-2del Single submitter Compton-North congenital myopathy
c.2523+5G>A Single submitter Compton-North congenital myopathy
c.2823+2TA[2] Single submitter
c.497-7C>A Single submitter Compton-North congenital myopathy
c.61+5G>A Single submitter Compton-North congenital myopathy
c.703+4_703+7del Single submitter Compton-North congenital myopathy
c.704-3T>C Single submitter Compton-North congenital myopathy
c.94+4A>G Single submitter Compton-North congenital myopathy
c.985+6T>C Single submitter Compton-North congenital myopathy
p.Ala242Thr Single submitter Compton-North congenital myopathy ⚠
p.Ala370= Single submitter Compton-North congenital myopathy
p.Ala370Val Single submitter Compton-North congenital myopathy ⚠
p.Ala402Val Single submitter Inborn genetic diseases ⚠
p.Ala522Thr Single submitter Compton-North congenital myopathy ⚠
p.Ala573Val Single submitter Inborn genetic diseases ⚠
p.Ala585Val Single submitter Compton-North congenital myopathy ⚠
p.Ala666Ser Single submitter Compton-North congenital myopathy ⚠
p.Ala728= Single submitter Compton-North congenital myopathy
p.Ala728Glu Single submitter Compton-North congenital myopathy ⚠
p.Ala728Val Single submitter Compton-North congenital myopathy ⚠
p.Ala799Val Single submitter Compton-North congenital myopathy ⚠
p.Ala811Gly Single submitter Inborn genetic diseases ⚠
p.Ala846Val Single submitter Compton-North congenital myopathy ⚠
p.Arg143Gly Single submitter Inborn genetic diseases ⚠
p.Arg143Pro Single submitter Compton-North congenital myopathy ⚠
p.Arg143Ser Single submitter Inborn genetic diseases ⚠
p.Arg171His Single submitter Compton-North congenital myopathy ⚠
p.Arg171Leu Single submitter Compton-North congenital myopathy ⚠
p.Arg187Gln Single submitter ⚠
p.Arg187Leu Single submitter Inborn genetic diseases ⚠
p.Arg431Lys Single submitter Compton-North congenital myopathy ⚠
p.Arg460Ser Single submitter Inborn genetic diseases ⚠
p.Arg506Gln Single submitter ⚠
p.Arg580Lys Single submitter Compton-North congenital myopathy ⚠
p.Arg68Gln Single submitter Compton-North congenital myopathy ⚠
p.Arg766Gln Single submitter Compton-North congenital myopathy ⚠
p.Arg843Gln Single submitter Inborn genetic diseases ⚠
p.Arg843Trp Single submitter Compton-North congenital myopathy ⚠
p.Arg90Gln Single submitter Compton-North congenital myopathy ⚠
p.Arg920Cys Single submitter Compton-North congenital myopathy ⚠
p.Arg977His Single submitter Compton-North congenital myopathy ⚠
p.Asn102His Single submitter Compton-North congenital myopathy ⚠
p.Asn208Ser Single submitter ⚠
p.Asn258Lys Single submitter Compton-North congenital myopathy ⚠
p.Asn258Ser Single submitter Compton-North congenital myopathy ⚠
p.Asn299Asp Single submitter ⚠
p.Asn472His Single submitter Compton-North congenital myopathy ⚠
p.Asn473del Single submitter Compton-North congenital myopathy
p.Asn489Ile Single submitter Compton-North congenital myopathy ⚠
p.Asn521Lys Single submitter Compton-North congenital myopathy ⚠
p.Asn630Asp Single submitter ⚠
p.Asn739Ser Single submitter Compton-North congenital myopathy ⚠
p.Asn789Asp Single submitter Compton-North congenital myopathy ⚠
p.Asp343Asn Single submitter Inborn genetic diseases ⚠
p.Asp380Glu Single submitter Compton-North congenital myopathy ⚠
p.Asp503Ala Single submitter Compton-North congenital myopathy ⚠
p.Asp515Tyr Single submitter Compton-North congenital myopathy ⚠
p.Asp548Asn Single submitter Compton-North congenital myopathy ⚠
p.Asp597His Single submitter Compton-North congenital myopathy ⚠
p.Asp792Val Single submitter Compton-North congenital myopathy ⚠
p.Asp806= Single submitter Compton-North congenital myopathy
p.Asp806Gly Single submitter Inborn genetic diseases ⚠
p.Asp874Asn Single submitter Inborn genetic diseases ⚠
p.Asp874His Single submitter Compton-North congenital myopathy ⚠
p.Asp969Gly Single submitter Compton-North congenital myopathy ⚠
p.Gln257Arg Single submitter Compton-North congenital myopathy ⚠
p.Gln301Glu Single submitter Compton-North congenital myopathy ⚠
p.Gln525Arg Single submitter Inborn genetic diseases ⚠
p.Gln586Arg Single submitter Compton-North congenital myopathy ⚠
p.Gln876Glu Single submitter Compton-North congenital myopathy ⚠
p.Glu1017Ala Single submitter Compton-North congenital myopathy ⚠
p.Glu21Gly Single submitter Compton-North congenital myopathy ⚠
p.Glu234_Arg235insGln Single submitter Compton-North congenital myopathy
p.Glu303Ala Single submitter Compton-North congenital myopathy ⚠
p.Glu384Gly Single submitter Inborn genetic diseases ⚠
p.Glu44Val Single submitter Compton-North congenital myopathy ⚠
p.Glu453Asp Single submitter Inborn genetic diseases ⚠
p.Glu453Gly Single submitter Compton-North congenital myopathy ⚠
p.Glu54Lys Single submitter Compton-North congenital myopathy ⚠
p.Glu552Gln Single submitter Inborn genetic diseases ⚠
p.Glu676Gln Single submitter Inborn genetic diseases ⚠
p.Gly1011Asp Single submitter Inborn genetic diseases ⚠
p.Gly133Glu Single submitter Compton-North congenital myopathy ⚠
p.Gly153Arg Single submitter Compton-North congenital myopathy ⚠
p.Gly317Arg Single submitter Inborn genetic diseases ⚠
p.Gly317Glu Single submitter Compton-North congenital myopathy ⚠
p.Gly345Ala Single submitter Inborn genetic diseases ⚠
p.Gly398Ala Single submitter Inborn genetic diseases ⚠
p.Gly429Cys Single submitter Compton-North congenital myopathy ⚠
p.Gly544Asp Single submitter Compton-North congenital myopathy ⚠
p.Gly544Val Single submitter Compton-North congenital myopathy ⚠
p.Gly605Ser Single submitter Compton-North congenital myopathy ⚠
p.Gly714Arg Single submitter Compton-North congenital myopathy ⚠
p.Gly715Asp Single submitter Compton-North congenital myopathy ⚠
p.Gly718Glu Single submitter Compton-North congenital myopathy ⚠
p.Gly765Asp Single submitter Compton-North congenital myopathy ⚠
p.Gly816Asp Single submitter Inborn genetic diseases ⚠
p.Gly888Val Single submitter Inborn genetic diseases ⚠
p.Gly939Val Single submitter Compton-North congenital myopathy ⚠
p.Gly952Ser Single submitter Compton-North congenital myopathy ⚠
p.His372Gln Single submitter Compton-North congenital myopathy ⚠
p.His555Arg Single submitter Compton-North congenital myopathy ⚠
p.His577Gln Single submitter Compton-North congenital myopathy ⚠
p.His848Asn Single submitter Inborn genetic diseases ⚠
p.His848Pro Single submitter Compton-North congenital myopathy ⚠
p.His927Pro Single submitter Inborn genetic diseases ⚠
p.His9Gln Single submitter Compton-North congenital myopathy ⚠
p.Ile111Met Single submitter Inborn genetic diseases ⚠
p.Ile15Val Single submitter Compton-North congenital myopathy ⚠
p.Ile181Val Single submitter Compton-North congenital myopathy ⚠
p.Ile218Thr Single submitter Compton-North congenital myopathy ⚠
p.Ile232Thr Single submitter Compton-North congenital myopathy ⚠
p.Ile307Val Single submitter Compton-North congenital myopathy ⚠
p.Ile392Val Single submitter ⚠
p.Ile424Thr Single submitter Compton-North congenital myopathy ⚠
p.Ile433Lys Single submitter Inborn genetic diseases ⚠
p.Ile461Leu Single submitter Compton-North congenital myopathy ⚠
p.Ile588Val Single submitter Compton-North congenital myopathy ⚠
p.Ile612Met Single submitter Compton-North congenital myopathy ⚠
p.Ile644Ser Single submitter Inborn genetic diseases ⚠
p.Ile725Val Single submitter Inborn genetic diseases ⚠
p.Ile743Val Single submitter Inborn genetic diseases ⚠
p.Ile825Val Single submitter Compton-North congenital myopathy ⚠
p.Ile842Val Single submitter Compton-North congenital myopathy ⚠
p.Ile962Leu Single submitter Inborn genetic diseases ⚠
p.Ile966Val Single submitter Compton-North congenital myopathy ⚠
p.Leu254Trp Single submitter Compton-North congenital myopathy ⚠
p.Leu509Ser Single submitter Compton-North congenital myopathy ⚠
p.Leu723Val Single submitter Compton-North congenital myopathy ⚠
p.Leu833Ser Single submitter Compton-North congenital myopathy ⚠
p.Lys206Asn Single submitter Compton-North congenital myopathy ⚠
p.Lys249Arg Single submitter Inborn genetic diseases ⚠
p.Lys357Thr Single submitter Compton-North congenital myopathy ⚠
p.Lys439Glu Single submitter Compton-North congenital myopathy ⚠
p.Lys445Met Single submitter Compton-North congenital myopathy ⚠
p.Lys650Asn Single submitter Compton-North congenital myopathy ⚠
p.Lys650Glu Single submitter Compton-North congenital myopathy ⚠
p.Lys76Arg Single submitter Compton-North congenital myopathy ⚠
p.Lys790Thr Single submitter Compton-North congenital myopathy ⚠
p.Met122Ile Single submitter Inborn genetic diseases ⚠
p.Met417Val Single submitter Compton-North congenital myopathy ⚠
p.Met420Thr Single submitter Compton-North congenital myopathy ⚠
p.Met420Val Single submitter Compton-North congenital myopathy ⚠
p.Met561Val Single submitter Compton-North congenital myopathy ⚠
p.Met895Ile Single submitter ⚠
p.Phe226Leu Single submitter Compton-North congenital myopathy ⚠
p.Phe679Ile Single submitter Compton-North congenital myopathy ⚠
p.Phe749Cys Single submitter Compton-North congenital myopathy ⚠
p.Pro1000Ser Single submitter Compton-North congenital myopathy ⚠
p.Pro1008Leu Single submitter Compton-North congenital myopathy ⚠
p.Pro137Ala Single submitter Compton-North congenital myopathy ⚠
p.Pro216Ser Single submitter Compton-North congenital myopathy ⚠
p.Pro231Leu Single submitter Compton-North congenital myopathy ⚠
p.Pro233Ala Single submitter Compton-North congenital myopathy ⚠
p.Pro269Thr Single submitter Inborn genetic diseases ⚠
p.Pro271Leu Single submitter Compton-North congenital myopathy ⚠
p.Pro360Ala Single submitter Compton-North congenital myopathy ⚠
p.Pro419Thr Single submitter Compton-North congenital myopathy ⚠
p.Pro511Ser Single submitter Inborn genetic diseases ⚠
p.Pro656Ser Single submitter Compton-North congenital myopathy ⚠
p.Pro73Leu Single submitter Compton-North congenital myopathy ⚠
p.Pro762Arg Single submitter Compton-North congenital myopathy ⚠
p.Pro762Ser Single submitter Compton-North congenital myopathy ⚠
p.Pro812Leu Single submitter Inborn genetic diseases ⚠
p.Pro909Ala Single submitter Compton-North congenital myopathy ⚠
p.Ser14Thr Single submitter Compton-North congenital myopathy ⚠
p.Ser221Arg Single submitter Compton-North congenital myopathy ⚠
p.Ser625Ile Single submitter Compton-North congenital myopathy ⚠
p.Ser62Leu Single submitter Inborn genetic diseases ⚠
p.Ser632Asn Single submitter Compton-North congenital myopathy ⚠
p.Ser731Leu Single submitter Inborn genetic diseases ⚠
p.Ser775Arg Single submitter Compton-North congenital myopathy ⚠
p.Ser775Ile Single submitter Compton-North congenital myopathy ⚠
p.Ser809Thr Single submitter Compton-North congenital myopathy ⚠
p.Ser865Leu Single submitter Compton-North congenital myopathy ⚠
p.Ser88Gly Single submitter Compton-North congenital myopathy ⚠
p.Ser8Gly Single submitter Inborn genetic diseases ⚠
p.Thr17Pro Single submitter Compton-North congenital myopathy ⚠
p.Thr236Lys Single submitter Compton-North congenital myopathy ⚠
p.Thr23Ile Single submitter Compton-North congenital myopathy ⚠
p.Thr23Ser Single submitter Inborn genetic diseases ⚠
p.Thr290Ile Single submitter Compton-North congenital myopathy ⚠
p.Thr355Ala Single submitter Inborn genetic diseases ⚠
p.Thr638Ala Single submitter Compton-North congenital myopathy ⚠
p.Thr638Asn Single submitter ⚠
p.Thr641Ser Single submitter Compton-North congenital myopathy ⚠
p.Thr773Ile Single submitter Inborn genetic diseases ⚠
p.Thr87Lys Single submitter Inborn genetic diseases ⚠
p.Thr938Met Single submitter Compton-North congenital myopathy ⚠
p.Thr997Asn Single submitter Inborn genetic diseases ⚠
p.Trp454Cys Single submitter Inborn genetic diseases ⚠
p.Trp464Ser Single submitter Inborn genetic diseases ⚠
p.Tyr209Phe Single submitter Compton-North congenital myopathy ⚠
p.Tyr28His Single submitter Compton-North congenital myopathy ⚠
p.Tyr369Asp Single submitter Inborn genetic diseases ⚠
p.Tyr397Cys Single submitter Compton-North congenital myopathy ⚠
p.Tyr482His Single submitter Compton-North congenital myopathy ⚠
p.Tyr844His Single submitter Compton-North congenital myopathy ⚠
p.Tyr91His Single submitter ⚠
p.Val123Ile Single submitter Inborn genetic diseases ⚠
p.Val146Ile Single submitter Compton-North congenital myopathy ⚠
p.Val251Ile Single submitter Compton-North congenital myopathy ⚠
p.Val259Met Single submitter Compton-North congenital myopathy ⚠
p.Val432Glu Single submitter Compton-North congenital myopathy ⚠
p.Val546Leu Single submitter Compton-North congenital myopathy ⚠
p.Val600Ala Single submitter Inborn genetic diseases ⚠
p.Val681Met Single submitter Compton-North congenital myopathy ⚠
p.Val74Gly Single submitter Compton-North congenital myopathy ⚠
p.Val7Asp Single submitter Compton-North congenital myopathy ⚠
p.Val815Ala Single submitter Compton-North congenital myopathy ⚠
p.Val817Gly Single submitter Inborn genetic diseases ⚠
p.Val837Gly Single submitter Compton-North congenital myopathy ⚠
p.Val99Ala Single submitter ⚠