"Laboratory of Diagnostic Genome Analysis, Leiden University Medical C - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 851627	NM_025099.6(CTC1):c.3326A>G (p.Asp1109Gly)	CTC1 (D1109G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 241581	NM_025099.6(CTC1):c.2478A>G (p.Thr826=)	CTC1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 326074	NM_025099.6(CTC1):c.2160C>T (p.Thr720=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 128859	NM_025099.6(CTC1):c.1383G>A (p.Gln461=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1205857	NM_025099.6(CTC1):c.1002C>T (p.Leu334=)	CTC1	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 210795	NM_025099.6(CTC1):c.248G>C (p.Ser83Thr)	CTC1 (S83T)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign

ClinVar