"Ambry Genetics"[submitter] AND "CTC1"[gene] - ClinVar

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

Search results

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2604207	NM_025099.6(CTC1):c.3415A>G (p.Thr1139Ala)	CTC1 (T1062A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267153	NM_025099.6(CTC1):c.3387+5A>G	CTC1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 854564	NM_025099.6(CTC1):c.3340C>T (p.Pro1114Ser)	CTC1 (P1114S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2145408	NM_025099.6(CTC1):c.3331G>A (p.Val1111Ile)	CTC1 (V1111I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 654789	NM_025099.6(CTC1):c.3281C>T (p.Ala1094Val)	CTC1 (A1094V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2527393	NM_025099.6(CTC1):c.3206G>A (p.Ser1069Asn)	CTC1 (S1069N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 326067	NM_025099.6(CTC1):c.3190A>G (p.Thr1064Ala)	CTC1 (T1064A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 459600	NM_025099.6(CTC1):c.3173T>G (p.Leu1058Arg)	CTC1 (L1058R)	Single nucleotide variant (missense variant)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 403760	NM_025099.6(CTC1):c.3169C>T (p.Arg1057Cys)	CTC1 (R1057C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2257138	NM_025099.6(CTC1):c.3166A>G (p.Thr1056Ala)	CTC1 (T1056A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 850137	NM_025099.6(CTC1):c.3151C>T (p.Arg1051Trp)	CTC1 (R1051W)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 1058776	NM_025099.6(CTC1):c.2897G>A (p.Arg966Gln)	CTC1 (R966Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 949014	NM_025099.6(CTC1):c.2896C>T (p.Arg966Trp)	CTC1 (R966W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 566947	NM_025099.6(CTC1):c.2770G>A (p.Ala924Thr)	CTC1 (A924T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 854563	NM_025099.6(CTC1):c.2737G>A (p.Ala913Thr)	CTC1 (A913T)	Single nucleotide variant (missense variant +1 more)	CTC1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2038872	NM_025099.6(CTC1):c.2570A>G (p.Asn857Ser)	CTC1 (N857S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 326070	NM_025099.6(CTC1):c.2506T>C (p.Ser836Pro)	CTC1 (S836P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 529183	NM_025099.6(CTC1):c.2461G>T (p.Ala821Ser)	CTC1 (A821S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1067575	NM_025099.6(CTC1):c.2385+2T>C	CTC1	Single nucleotide variant (splice donor variant)	Dyskeratosis congenita +2 more	GConflicting classifications of pathogenicity
Select item 1385535	NM_025099.6(CTC1):c.2375A>G (p.Asn792Ser)	CTC1 (N792S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 529173	NM_025099.6(CTC1):c.2356C>A (p.Pro786Thr)	CTC1 (P786T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2229516	NM_025099.6(CTC1):c.2350C>T (p.Pro784Ser)	CTC1 (P784S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 864713	NM_025099.6(CTC1):c.2329G>C (p.Glu777Gln)	CTC1 (E777Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 645691	NM_025099.6(CTC1):c.2291A>G (p.Tyr764Cys)	CTC1 (Y764C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 655157	NM_025099.6(CTC1):c.2266G>A (p.Val756Met)	CTC1 (V756M)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 210794	NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln)	CTC1 (R731Q)	Single nucleotide variant (missense variant +1 more)	CTC1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 948800	NM_025099.6(CTC1):c.2174C>G (p.Pro725Arg)	CTC1 (P725R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 575948	NM_025099.6(CTC1):c.2128G>A (p.Ala710Thr)	CTC1 (A710T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 862837	NM_025099.6(CTC1):c.2029A>G (p.Met677Val)	CTC1 (M677V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GConflicting classifications of pathogenicity
Select item 964828	NM_025099.6(CTC1):c.1974G>T (p.Gln658His)	CTC1 (Q658H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 2386464	NM_025099.6(CTC1):c.1883G>T (p.Gly628Val)	CTC1 (G628V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 862400	NM_025099.6(CTC1):c.1766G>A (p.Arg589His)	CTC1 (R589H)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 856944	NM_025099.6(CTC1):c.1765C>T (p.Arg589Cys)	CTC1 (R589C)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +3 more	GUncertain significance
Select item 571638	NM_025099.6(CTC1):c.1760A>G (p.Asn587Ser)	CTC1 (N587S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1047762	NM_025099.6(CTC1):c.1759A>C (p.Asn587His)	CTC1 (N587H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1455096	NM_025099.6(CTC1):c.1683dup (p.Lys562Ter)	CTC1 (K562*)	Duplication (nonsense +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 2216977	NM_025099.6(CTC1):c.1681C>T (p.Arg561Cys)	CTC1 (R561C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 529174	NM_025099.6(CTC1):c.1681C>A (p.Arg561Ser)	CTC1 (R561S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 1427458	NM_025099.6(CTC1):c.1565G>A (p.Arg522Gln)	CTC1 (R522Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 459591	NM_025099.6(CTC1):c.1564C>T (p.Arg522Trp)	CTC1 (R522W)	Single nucleotide variant (non-coding transcript variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +3 more	GConflicting classifications of pathogenicity
Select item 854129	NM_025099.6(CTC1):c.1558C>G (p.Pro520Ala)	CTC1 (P520A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 841592	NM_025099.6(CTC1):c.1525C>T (p.Pro509Ser)	CTC1 (P509S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1917954	NM_025099.6(CTC1):c.1496G>A (p.Ser499Asn)	CTC1 (S499N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 992911	NM_025099.6(CTC1):c.1378C>T (p.Arg460Cys)	CTC1 (R460C)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 2488023	NM_025099.6(CTC1):c.1307G>C (p.Arg436Pro)	CTC1 (R436P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1417861	NM_025099.6(CTC1):c.1306C>T (p.Arg436Cys)	CTC1 (R436C)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GConflicting classifications of pathogenicity
Select item 845311	NM_025099.6(CTC1):c.1285G>A (p.Val429Ile)	CTC1 (V429I)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 1400854	NM_025099.6(CTC1):c.1274T>C (p.Leu425Pro)	CTC1 (L425P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 573891	NM_025099.6(CTC1):c.1240G>T (p.Gly414Trp)	CTC1 (G414W)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 2529685	NM_025099.6(CTC1):c.1193G>C (p.Gly398Ala)	CTC1 (G398A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1381108	NM_025099.6(CTC1):c.1026C>G (p.Asp342Glu)	CTC1 (D342E)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 2357570	NM_025099.6(CTC1):c.947A>G (p.Gln316Arg)	CTC1 (Q316R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2403511	NM_025099.6(CTC1):c.910T>G (p.Ser304Ala)	CTC1 (S304A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 835491	NM_025099.6(CTC1):c.883C>T (p.Arg295Cys)	CTC1 (R295C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1002885	NM_025099.6(CTC1):c.817A>G (p.Arg273Gly)	CTC1 (R273G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2325151	NM_025099.6(CTC1):c.787G>A (p.Val263Met)	CTC1 (V263M)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 30995	NM_025099.6(CTC1):c.724_727del (p.Lys242fs)	CTC1 (K242fs)	Deletion (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 459604	NM_025099.6(CTC1):c.556G>C (p.Val186Leu)	CTC1 (V186L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1394293	NM_025099.6(CTC1):c.500C>T (p.Pro167Leu)	CTC1 (P167L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1337319	NM_025099.6(CTC1):c.485G>A (p.Arg162His)	CTC1 (R162H)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 403759	NM_025099.6(CTC1):c.202G>A (p.Val68Ile)	CTC1 (V68I)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 2231357	NM_025099.6(CTC1):c.187C>T (p.Leu63Phe)	CTC1 (L63F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1322169	NM_025099.6(CTC1):c.150G>A (p.Trp50Ter)	CTC1 (W50*)	Single nucleotide variant (nonsense +1 more)	Dyskeratosis congenita +1 more	GPathogenic/Likely pathogenic
Select item 2478773	NM_025099.6(CTC1):c.133T>G (p.Cys45Gly)	CTC1 (C45G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1691970	NM_025099.6(CTC1):c.50A>G (p.Glu17Gly)	CTC1 (E17G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2478674	NM_025099.6(CTC1):c.22G>A (p.Val8Ile)	CTC1, PFAS (V8I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 952575	NM_025099.6(CTC1):c.17C>T (p.Ala6Val)	CTC1, PFAS (A6V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2149900	NM_025099.6(CTC1):c.16G>T (p.Ala6Ser)	CTC1, PFAS (A6S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 434853	NM_025099.6(CTC1):c.13C>T (p.Arg5Trp)	CTC1, PFAS (R5W)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +3 more	GConflicting classifications of pathogenicity

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: 70