"GeneDx"[submitter] AND "CTC1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 326056	NM_025099.6(CTC1):c.*275G>A	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 326062	NM_025099.6(CTC1):c.*43C>T	CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +2 more	GBenign/Likely benign
Select item 596465	NM_025099.6(CTC1):c.3604C>T (p.Arg1202Ter)	CTC1 (R1202*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 326063	NM_025099.6(CTC1):c.3591C>G (p.Ser1197=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 31003	NM_025099.6(CTC1):c.3583C>T (p.Arg1195Ter)	CTC1 (R1195*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 451273	NM_025099.6(CTC1):c.3532C>T (p.Arg1178Ter)	CTC1 (R1178*)	Single nucleotide variant (nonsense +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 1221973	NM_025099.6(CTC1):c.3515-28G>A	CTC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 888922	NM_025099.6(CTC1):c.3505G>A (p.Val1169Ile)	CTC1 (V1169I)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 888923	NM_025099.6(CTC1):c.3494C>T (p.Pro1165Leu)	CTC1 (P1165L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 841298	NM_025099.6(CTC1):c.3463A>G (p.Ile1155Val)	CTC1 (I1155V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 954961	NM_025099.6(CTC1):c.3458G>A (p.Arg1153His)	CTC1 (R1153H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1803304	NM_025099.6(CTC1):c.3241A>C (p.Thr1081Pro)	CTC1 (T1081P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1230380	NM_025099.6(CTC1):c.3222-37T>G	CTC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178811	NM_025099.6(CTC1):c.3221+72A>G	CTC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3343260	NM_025099.6(CTC1):c.3187C>T (p.Pro1063Ser)	CTC1 (P1063S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 326068	NM_025099.6(CTC1):c.3153G>C (p.Arg1051=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 850137	NM_025099.6(CTC1):c.3151C>T (p.Arg1051Trp)	CTC1 (R1051W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 843472	NM_025099.6(CTC1):c.3019del (p.Leu1007fs)	CTC1 (L1007fs)	Deletion (frameshift variant +1 more)	Coats plus syndrome +3 more	GPathogenic
Select item 128861	NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val)	CTC1 (I1005V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 1195467	NM_025099.6(CTC1):c.3012-114C>G	CTC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 412528	NM_025099.6(CTC1):c.2973T>C (p.Tyr991=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +2 more	GBenign/Likely benign
Select item 40250	NM_025099.6(CTC1):c.2951GTT[1] (p.Cys985del)	CTC1 (C985del)	Microsatellite (inframe_deletion +1 more)	Coats plus syndrome +2 more	GPathogenic
Select item 1213405	NM_025099.6(CTC1):c.2934-93T>C	CTC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 631531	NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly)	CTC1 (R975G)	Single nucleotide variant (missense variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +2 more	GConflicting classifications of pathogenicity
Select item 31000	NM_025099.6(CTC1):c.2831del (p.Pro944fs)	CTC1 (P944fs)	Deletion (frameshift variant +1 more)	not provided +3 more	GPathogenic
Select item 940077	NM_025099.6(CTC1):c.2800G>A (p.Ala934Thr)	CTC1 (A934T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 1296930	NM_025099.6(CTC1):c.2669+80T>C	CTC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197744	NM_025099.6(CTC1):c.2669+36C>T	CTC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204059	NM_025099.6(CTC1):c.2669+28A>C	CTC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 967120	NM_025099.6(CTC1):c.2522G>A (p.Arg841His)	CTC1 (R841H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 30999	NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp)	CTC1 (R840W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 326070	NM_025099.6(CTC1):c.2506T>C (p.Ser836Pro)	CTC1 (S836P)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 241581	NM_025099.6(CTC1):c.2478A>G (p.Thr826=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 128860	NM_025099.6(CTC1):c.2458A>G (p.Ile820Val)	CTC1 (I820V)	Single nucleotide variant (missense variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +3 more	GBenign
Select item 326072	NM_025099.6(CTC1):c.2386-13T>G	CTC1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1275592	NM_025099.6(CTC1):c.2385+37C>T	CTC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1067575	NM_025099.6(CTC1):c.2385+2T>C	CTC1	Single nucleotide variant (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1878907	NM_025099.6(CTC1):c.2282T>G (p.Leu761Arg)	CTC1 (L761R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 655157	NM_025099.6(CTC1):c.2266G>A (p.Val756Met)	CTC1 (V756M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +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)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 241580	NM_025099.6(CTC1):c.2162G>C (p.Gly721Ala)	CTC1 (G721A)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +3 more	GBenign/Likely benign
Select item 326074	NM_025099.6(CTC1):c.2160C>T (p.Thr720=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
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 429541	NM_025099.6(CTC1):c.2089G>A (p.Ala697Thr)	CTC1 (A697T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 1212186	NM_025099.6(CTC1):c.2060+63G>A	CTC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 31002	NM_025099.6(CTC1):c.1994T>G (p.Val665Gly)	CTC1 (V665G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 1233975	NM_025099.6(CTC1):c.1945+132G>A	CTC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275294	NM_025099.6(CTC1):c.1819-314del	CTC1	Deletion (intron variant)	not provided	GBenign
Select item 1219721	NM_025099.6(CTC1):c.1818+220T>C	CTC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186834	NM_025099.6(CTC1):c.1818+166_1818+168del	CTC1	Deletion (intron variant)	not provided	GLikely benign
Select item 1255413	NM_025099.6(CTC1):c.1818+36C>T	CTC1	Single nucleotide variant (intron variant)	Cerebroretinal microangiopathy with calcifications and cysts 1 +2 more	GBenign
Select item 504447	NM_025099.6(CTC1):c.1805_1811dup (p.Ala605fs)	CTC1 (A605fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 862400	NM_025099.6(CTC1):c.1766G>A (p.Arg589His)	CTC1 (R589H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +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)	Cerebroretinal microangiopathy with calcifications and cysts 1 +3 more	GUncertain significance
Select item 326079	NM_025099.6(CTC1):c.1728G>A (p.Pro576=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 412531	NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser)	CTC1 (P574S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +4 more	GConflicting classifications of pathogenicity
Select item 577242	NM_025099.6(CTC1):c.1585C>A (p.Leu529Ile)	CTC1 (L529I)	Single nucleotide variant (missense variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +3 more	GUncertain significance
Select item 834911	NM_025099.6(CTC1):c.1528A>G (p.Thr510Ala)	CTC1 (T510A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 392201	NM_025099.6(CTC1):c.1459A>G (p.Arg487Gly)	CTC1 (R487G)	Single nucleotide variant (missense variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +2 more	GConflicting classifications of pathogenicity
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 241578	NM_025099.6(CTC1):c.1307G>A (p.Arg436His)	CTC1 (R436H)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GBenign/Likely benign
Select item 1312568	NM_025099.6(CTC1):c.1264G>A (p.Ala422Thr)	CTC1 (A422T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 241577	NM_025099.6(CTC1):c.1241G>C (p.Gly414Ala)	CTC1 (G414A)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 1277800	NM_025099.6(CTC1):c.1207-40T>G	CTC1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 891231	NM_025099.6(CTC1):c.1117T>C (p.Tyr373His)	CTC1 (Y373H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1262805	NM_025099.6(CTC1):c.1077+49T>C	CTC1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1231320	NM_025099.6(CTC1):c.1077+37A>G	CTC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 326082	NM_025099.6(CTC1):c.1025A>G (p.Asp342Gly)	CTC1 (D342G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 128862	NM_025099.6(CTC1):c.990C>T (p.Asp330=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +3 more	GBenign
Select item 2663635	NM_025099.6(CTC1):c.911C>T (p.Ser304Phe)	CTC1 (S304F)	Single nucleotide variant (missense variant +1 more)	not provided	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 40251	NM_025099.6(CTC1):c.859C>T (p.Arg287Ter)	CTC1 (R287*)	Single nucleotide variant (nonsense +1 more)	Dyskeratosis congenita +1 more	GPathogenic
Select item 660443	NM_025099.6(CTC1):c.833G>T (p.Gly278Val)	CTC1 (G278V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1196596	NM_025099.6(CTC1):c.793-87G>A	CTC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224132	NM_025099.6(CTC1):c.793-100A>G	CTC1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1230747	NM_025099.6(CTC1):c.793-112T>A	CTC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 1253459	NM_025099.6(CTC1):c.648-100G>T	CTC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212734	NM_025099.6(CTC1):c.647+122G>A	CTC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239972	NM_025099.6(CTC1):c.647+25A>G	CTC1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 459604	NM_025099.6(CTC1):c.556G>C (p.Val186Leu)	CTC1 (V186L)	Single nucleotide variant (missense variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +4 more	GUncertain significance
Select item 661461	NM_025099.6(CTC1):c.502C>T (p.Pro168Ser)	CTC1 (P168S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
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 261822	NM_025099.6(CTC1):c.435+3=	CTC1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 326087	NM_025099.6(CTC1):c.366A>G (p.Ala122=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +3 more	GBenign
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 1290012	NM_025099.6(CTC1):c.198-153C>T	CTC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238023	NM_025099.6(CTC1):c.198-182C>T	CTC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235742	NM_025099.6(CTC1):c.198-239T>C	CTC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196873	NM_025099.6(CTC1):c.198-316T>C	CTC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229235	NM_025099.6(CTC1):c.197+235A>G	CTC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260107	NM_025099.6(CTC1):c.197+150_197+151insTGT	CTC1	Insertion (intron variant)	not provided	GBenign
Select item 1266684	NM_025099.6(CTC1):c.197+138G>T	CTC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243021	NM_025099.6(CTC1):c.197+76A>G	CTC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 889730	NM_025099.6(CTC1):c.197+15C>T	CTC1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 326089	NM_025099.6(CTC1):c.126A>G (p.Val42=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1313327	NM_025099.6(CTC1):c.100C>T (p.Pro34Ser)	CTC1 (P34S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance

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