613990.1

United Arab Emirates

Recurrent pneumonia

Male

Yes

Variant Name	Allele Count	Associated Disease
NM_001099274.1:c.734C>A	1	Dyskeratosis Congenita, Autosomal Dominant 3
NM_001204.6:c.532G>C	1
NM_001369.2:c.12709G>T	1
NM_002458.2:c.10352C>T	1	Interstitial Lung Disease 2
NM_000195.5:c.1273G>A	1

Authors mention that variant 10352C>T may be causative despite ACMG classification