ClinVar (all) for Orgtrack (Select 506418) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 446380	NM_001363.5(DKC1):c.203A>G (p.His68Arg)	DKC1 (H68R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked	GPathogenic
Select item 446379	NR_001566.1(TERC):n.407_408delinsAA	TERC	Indel	Dyskeratosis congenita, autosomal dominant 1 +1 more	GPathogenic/Likely pathogenic
Select item 446378	NR_001566.3(TERC):n.118_121GCGG[1]	LOC110806306, TERC	Microsatellite	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2	GPathogenic
Select item 446377	NR_001566.3(TERC):n.107G>T	LOC110806306, TERC	Single nucleotide variant	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2	GPathogenic
Select item 446376	NR_001566.3(TERC):n.69_74dup	LOC110806306, TERC	Duplication	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2	GPathogenic
Select item 446375	NM_198253.3(TERT):c.3399A>G (p.Ter1133Trp)	TERT	Single nucleotide variant (stop lost +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	GLikely pathogenic
Select item 446374	NM_198253.3(TERT):c.2287-5G>A	TERT	Single nucleotide variant (intron variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 446373	NM_198253.3(TERT):c.2320C>T (p.Arg774Ter)	TERT (R774*)	Single nucleotide variant (nonsense)	Idiopathic Pulmonary Fibrosis +1 more	GPathogenic
Select item 446372	NM_198253.3(TERT):c.2051A>G (p.Asp684Gly)	TERT (D684G)	Single nucleotide variant (missense variant +1 more)	Interstitial lung disease 2 +4 more	GConflicting classifications of pathogenicity
Select item 29899	NM_198253.3(TERT):c.1892G>A (p.Arg631Gln)	TERT (R631Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +4 more	GPathogenic
Select item 5625	NM_001099274.3(TINF2):c.845G>A (p.Arg282His)	TINF2 (R282H +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic