C1857144[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 29901	NM_198253.3(TERT):c.2701C>T (p.Arg901Trp)	TERT (R901W)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 29900	NM_198253.3(TERT):c.2431C>T (p.Arg811Cys)	TERT (R811C)	Single nucleotide variant (missense variant)	Idiopathic Pulmonary Fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 4282	NM_017838.4(NHP2):c.460T>A (p.Ter154Arg)	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 4280	NM_017838.4(NHP2):c.415T>C (p.Tyr139His)	NHP2, RMND5B (Y139H)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita, autosomal recessive 2	GPathogenic
Select item 4281	NM_017838.4(NHP2):c.376G>A (p.Val126Met)	NHP2, RMND5B (V126M)	Single nucleotide variant (synonymous variant +2 more)	Dyskeratosis congenita, autosomal recessive 2	GPathogenic
Select item 4279	NM_018648.4(NOP10):c.100C>T (p.Arg34Trp)	NOP10 (R34W)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 1	GPathogenic

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