Nonsense/Stop codon

Do null alleles cause disease? (Check ClinVar, OMIM, HGMD, ClinGen for reported null alleles and LOF classification)

Yes

Possibly

Where does the premature stop occur in the gene?

First 1/3 of the gene

Last exon, or 50 nucleotides from the end of second to last exon

After first 1/3 but before the last 50 nucleotides from the end of the second to last exon

Where does the stop occur in the gene?

First 1/3 of the gene

Last exon, or 50 nucleotides from the end of the last exon

After the first 1/3 but before the last 50 nucleotides from the end of the second to last exon

Check for null alleles reported 5' of this stop - - what did you find?

No published null alleles 5' of this stop

A published pathogenic null allele that is 5' of this stop

A published benign null allele that is 5' of this stop or a null allele with high population frequency that is 5' of this del dup

Check for null alleles reported 5' of this stop - what did you find?

No published null alleles 5' of this stop

A published pathogenic null allele that is 5' of this stop

A published benign null allele that is 5' of this stop or a null allele with high population frequency that is 5' of this del dup

Is there a null allele published 3' of this stop or does this null allele cause loss of a critical region?

Yes

Is there a null allele published 3' of this stop or does this null allele cause loss of a critical region?

Yes

Are there any VUS, LB or Benign truncating variants 5' of the variant?

Yes

Are there any VUS, LB or Benign null variants 5' of the variant?

Yes

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