"Johns Hopkins Genomics, Johns Hopkins University"[submitter] AND "CTC - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 992910	NM_025099.6(CTC1):c.3191C>T (p.Thr1064Met)	CTC1 (T1064M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 412528	NM_025099.6(CTC1):c.2973T>C (p.Tyr991=)	CTC1	Single nucleotide variant (non-coding transcript variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +2 more	GBenign/Likely benign
Select item 412529	NM_025099.6(CTC1):c.2154T>A (p.Asp718Glu)	CTC1 (D718E)	Single nucleotide variant (missense variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +3 more	GBenign/Likely benign
Select item 992911	NM_025099.6(CTC1):c.1378C>T (p.Arg460Cys)	CTC1 (R460C)	Single nucleotide variant (missense variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +2 more	GUncertain significance
Select item 992912	NM_025099.6(CTC1):c.951_956del (p.318LE[2])	CTC1	Deletion (inframe_deletion +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 1185025	NM_025099.6(CTC1):c.131_134del (p.Asp44fs)	CTC1 (D44fs)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GLikely pathogenic

ClinVar