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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC110806306, TERC
Single nucleotide variant
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
GLikely pathogenic
ZCCHC8
(P186L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic