Gene/Transcript Variant Location Variant Chromosome Position (GRCh37) Zygosity Related Phenotypes OMIM number Inheritance Pattern Variant Classification
TCF3 ENST00000262965.5 NM_003200
Exon 13
c.1069G>C p.V357L
Chr19: 1,620,991
Het
Agammaglobulinemia-8
616941
AD
VUS
LRBA ENST00000357115.3 NM_006726
Exon 53
c.7742T>A p.M2581K
Chr4: 151,231,521
Hom
Common variable immunodeficiency-8 with autoimmunity
614700
AR
VUS