"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CTC1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 326064	NM_025099.6(CTC1):c.3524G>A (p.Arg1175Gln)	CTC1 (R1175Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 1467928	NM_025099.6(CTC1):c.3406G>A (p.Glu1136Lys)	CTC1 (E1136K)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 647135	NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs)	CTC1 (P999fs)	Deletion (frameshift variant +1 more)	Dyskeratosis congenita +1 more	GPathogenic
Select item 529186	NM_025099.6(CTC1):c.2803C>T (p.Leu935Phe)	CTC1 (L935F)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 459599	NM_025099.6(CTC1):c.2767G>T (p.Gly923Trp)	CTC1 (G923W)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 529185	NM_025099.6(CTC1):c.2758+1G>T	CTC1	Single nucleotide variant (splice donor variant)	Dyskeratosis congenita +1 more	GPathogenic/Likely pathogenic
Select item 665127	NM_025099.6(CTC1):c.2686G>T (p.Val896Leu)	CTC1 (V896L)	Single nucleotide variant (missense variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +1 more	GUncertain significance
Select item 935334	NM_025099.6(CTC1):c.2386-1G>A	CTC1	Single nucleotide variant (splice acceptor variant)	Cerebroretinal microangiopathy with calcifications and cysts 1 +1 more	GLikely pathogenic
Select item 568849	NM_025099.6(CTC1):c.2260C>G (p.Pro754Ala)	CTC1 (P754A)	Single nucleotide variant (missense variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +1 more	GUncertain significance
Select item 210794	NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln)	CTC1 (R731Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 459595	NM_025099.6(CTC1):c.1958G>A (p.Arg653Gln)	CTC1 (R653Q)	Single nucleotide variant (missense variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +2 more	GConflicting classifications of pathogenicity
Select item 326075	NM_025099.6(CTC1):c.1957C>T (p.Arg653Trp)	CTC1 (R653W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1664573	NM_025099.6(CTC1):c.1899G>C (p.Leu633=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +1 more	GLikely benign
Select item 1461031	NM_025099.6(CTC1):c.980T>C (p.Leu327Ser)	CTC1 (L327S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 459606	NM_025099.6(CTC1):c.862G>A (p.Val288Met)	CTC1 (V288M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 30998	NM_025099.6(CTC1):c.775G>A (p.Val259Met)	CTC1 (V259M)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GPathogenic/Likely pathogenic
Select item 30995	NM_025099.6(CTC1):c.724_727del (p.Lys242fs)	CTC1 (K242fs)	Deletion (frameshift variant)	Dyskeratosis congenita +3 more	GPathogenic
Select item 1394293	NM_025099.6(CTC1):c.500C>T (p.Pro167Leu)	CTC1 (P167L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +3 more	GUncertain significance
Select item 971519	NM_025099.6(CTC1):c.421G>A (p.Val141Ile)	CTC1 (V141I)	Single nucleotide variant (missense variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +1 more	GUncertain significance
Select item 653432	NM_025099.6(CTC1):c.248_251dup (p.His84fs)	CTC1 (H84fs)	Duplication (frameshift variant +1 more)	Dyskeratosis congenita +2 more	GPathogenic/Likely pathogenic
Select item 210795	NM_025099.6(CTC1):c.248G>C (p.Ser83Thr)	CTC1 (S83T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +3 more	GBenign/Likely benign
Select item 943454	NM_025099.6(CTC1):c.19C>T (p.Gln7Ter)	CTC1, PFAS (Q7*)	Single nucleotide variant (nonsense +1 more)	Dyskeratosis congenita +1 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 22