"CZECANCA consortium"[submitter] AND "NBN"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 855637	NM_002485.5(NBN):c.1645A>T (p.Lys549Ter)	NBN (K549* +1 more)	Single nucleotide variant (nonsense)	Aplastic anemia +2 more	GPathogenic
Select item 989414	NM_002485.5(NBN):c.1393A>T (p.Lys465Ter)	NBN (K383* +1 more)	Single nucleotide variant (nonsense)	Microcephaly, normal intelligence and immunodeficiency	GPathogenic
Select item 6940	NM_002485.5(NBN):c.657_661del (p.Lys219fs)	NBN (K137fs +1 more)	Deletion (frameshift variant)	Microcephaly +6 more	GPathogenic
Select item 232165	NM_002485.5(NBN):c.188del (p.Ile63fs)	NBN (I63fs)	Deletion (5 prime UTR variant +1 more)	Aplastic anemia +3 more	GPathogenic/Likely pathogenic
Select item 186314	NM_002485.5(NBN):c.37+1G>A	NBN	Single nucleotide variant (splice donor variant)	Microcephaly, normal intelligence and immunodeficiency +4 more	GPathogenic/Likely pathogenic
Select item 989423	NM_002485.5(NBN):c.5G>A (p.Trp2Ter)	NBN (W2*)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly, normal intelligence and immunodeficiency	GPathogenic

ClinVar