varlens report

Tier	Variant	Gene	Consequence	Zygosity	Allele freq	ClinVar	Condition	Evidence
High priority	`1:100150 G>A`	DEMO1	stop_gained	heterozygous	1e-05	Pathogenic ★★	Demo syndrome 1	Frequency: 1e-05 ClinVar: Pathogenic (**) Loss-of-function consequence (PVS1 candidate; check gene mechanism) PM2_supporting: absent or AF <= 0.0001
Needs manual review	`2:250999 T>TA`	DEMO2	frameshift_variant	homozygous	-	not in ClinVar	-	Frequency: not found in population data Loss-of-function consequence (PVS1 candidate; check gene mechanism) PM2_supporting: absent or AF <= 0.0001
Needs manual review	`3:500100 C>G`	DEMO3	missense_variant	heterozygous	0.0005	Conflicting classifications of pathogenicity ★	Demo disorder 3	Frequency: 0.0005 ClinVar: Conflicting classifications of pathogenicity (*)
Needs manual review	`3:500200 G>A`	DEMO3	missense_variant	heterozygous	2e-05	Likely pathogenic ★	Demo disorder 3	Frequency: 2e-05 ClinVar: Likely pathogenic (*) PM2_supporting: absent or AF <= 0.0001
Needs manual review	`5:900000 C>T`	DEMO5	missense_variant	heterozygous	0.03	Pathogenic ★★	Demo disorder 5	Frequency: 0.03 ClinVar: Pathogenic (**) BS1: AF >= 0.01 (too common for a rare disorder) Conflict: ClinVar pathogenic but frequency is high; review
Uncertain / unannotated	`1:100420 C>T`	DEMO1	missense_variant	heterozygous	3e-05	Uncertain significance ★	Demo syndrome 1	Frequency: 3e-05 ClinVar: Uncertain significance (*) PM2_supporting: absent or AF <= 0.0001
Uncertain / unannotated	`4:750000 G>T`	DEMO4	missense_variant	heterozygous	0.0002	not in ClinVar	-	Frequency: 0.0002
Low priority	`2:250300 A>G`	DEMO2	missense_variant	heterozygous	0.12	Benign ★★	not specified	Frequency: 0.12 ClinVar: Benign (**) BA1: AF >= 0.05 (stand-alone benign)
Low priority	`3:500200 G>C`	DEMO3	synonymous_variant	heterozygous	0.02	not in ClinVar	-	Frequency: 0.02 BS1: AF >= 0.01 (too common for a rare disorder)

varlens variant report