C5561926[trait identifier] AND "Department of Respiratory and Critical - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 559539	NM_173842.3(IL1RN):c.63A>G (p.Ser21=)	IL1RN	Single nucleotide variant (synonymous variant +1 more)	Sterile multifocal osteomyelitis with periostitis and pustulosis	GConflicting classifications of pathogenicity
Select item 12736	NM_198253.3(TERT):c.2594G>A (p.Arg865His)	TERT (R865H)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +3 more	GPathogenic/Likely pathogenic
Select item 29899	NM_198253.3(TERT):c.1892G>A (p.Arg631Gln)	TERT (R631Q)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +4 more	GPathogenic
Select item 559532	NM_032122.5(DTNBP1):c.286G>T (p.Glu96Ter)	DTNBP1 (E96* +3 more)	Single nucleotide variant (nonsense +1 more)	Interstitial lung disease 2	GUncertain significance
Select item 559540	NM_145307.4(RTKN2):c.952dup (p.Tyr318fs)	RTKN2 (Y318fs)	Duplication (frameshift variant)	Interstitial lung disease 2	GUncertain significance
Select item 559535	NM_002421.4(MMP1):c.988del (p.Ala330fs)	MMP1 (A264fs +1 more)	Deletion (frameshift variant)	Interstitial lung disease 2	GUncertain significance
Select item 559536	NM_002429.6(MMP19):c.1155T>A (p.Tyr385Ter)	MMP19 (Y385*)	Single nucleotide variant (nonsense +2 more)	Interstitial lung disease 2	GUncertain significance
Select item 559531	NM_025099.6(CTC1):c.400dup (p.Tyr134fs)	CTC1 (Y134fs)	Duplication (frameshift variant +1 more)	Interstitial lung disease 2	GUncertain significance
Select item 559534	NM_198129.4(LAMA3):c.2116C>T (p.Arg706Ter)	LAMA3 (R706*)	Single nucleotide variant (nonsense)	Interstitial lung disease 2	GUncertain significance
Select item 559537	NM_001283009.2(RTEL1):c.388_389del (p.Ser130fs)	RTEL1, RTEL1-TNFRSF6B (S130fs)	Deletion (non-coding transcript variant +2 more)	Interstitial lung disease 2	GLikely pathogenic
Select item 559538	NM_001283009.2(RTEL1):c.3559C>T (p.Gln1187Ter)	RTEL1, RTEL1-TNFRSF6B (Q1187* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Interstitial lung disease 2	GLikely pathogenic
Select item 559533	NM_022081.6(HPS4):c.1102dup (p.Asp368fs)	HPS4 (D386fs +2 more)	Duplication (frameshift variant +1 more)	Interstitial lung disease 2	GUncertain significance