ClinVar for Gene (Select 80169) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366635	NM_025099.6(CTC1):c.435+4A>G	CTC1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3350885	NM_025099.6(CTC1):c.2036G>C (p.Gly679Ala)	CTC1 (G679A)	Single nucleotide variant (missense variant +1 more)	CTC1-related disorder	GUncertain significance
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 3270023	NM_025099.6(CTC1):c.3349G>C (p.Val1117Leu)	CTC1 (V1117L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3270022	NM_025099.6(CTC1):c.1106C>T (p.Pro369Leu)	CTC1 (P369L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3270021	NM_025099.6(CTC1):c.2196CTT[1] (p.Phe733del)	CTC1 (F733del)	Microsatellite (inframe_deletion +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3242938	NC_000017.10:g.(?_8129271)_(8134741_?)del	CTC1	Deletion	Dyskeratosis congenita	GPathogenic
Select item 3242937	NC_000017.10:g.(?_8146283)_(8151354_?)del	CTC1	Deletion	Dyskeratosis congenita	GPathogenic
Select item 3242120	NM_025099.6(CTC1):c.1595C>T (p.Pro532Leu)	CTC1 (P532L)	Single nucleotide variant (missense variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1	GUncertain significance
Select item 3242119	NM_025099.6(CTC1):c.2282_2283insA (p.Ser762fs)	CTC1 (S762fs)	Insertion (frameshift variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1	GLikely pathogenic
Select item 3239313	NM_025099.6(CTC1):c.3510A>G (p.Pro1170=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3078560	NM_025099.6(CTC1):c.970G>A (p.Gly324Arg)	CTC1 (G324R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3078559	NM_025099.6(CTC1):c.842A>G (p.Tyr281Cys)	CTC1 (Y281C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3078556	NM_025099.6(CTC1):c.2988T>A (p.Ser996Arg)	CTC1 (S996R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3078554	NM_025099.6(CTC1):c.2302A>C (p.Ser768Arg)	CTC1 (S768R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3078553	NM_025099.6(CTC1):c.1924C>G (p.Leu642Val)	CTC1 (L642V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3078551	NM_025099.6(CTC1):c.1502G>A (p.Ser501Asn)	CTC1 (S501N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3064731	NM_025099.6(CTC1):c.3566_3574del (p.His1189_Asn1191del)	CTC1	Deletion (inframe_deletion +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3054435	NM_025099.6(CTC1):c.3396C>G (p.Ala1132=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	CTC1-related disorder	GLikely benign
Select item 3051198	NM_025099.6(CTC1):c.2517T>G (p.Ser839=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	CTC1-related disorder	GLikely benign
Select item 3031444	NM_025099.6(CTC1):c.3408G>A (p.Glu1136=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	CTC1-related disorder	GLikely benign
Select item 3030224	NM_025099.6(CTC1):c.911C>A (p.Ser304Tyr)	CTC1 (S304Y)	Single nucleotide variant (missense variant +1 more)	CTC1-related disorder	GUncertain significance
Select item 3020670	NM_025099.6(CTC1):c.1439+8G>A	CTC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 3019804	NM_025099.6(CTC1):c.3012-12G>C	CTC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 3015074	NM_025099.6(CTC1):c.315C>T (p.Pro105=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3013666	NM_025099.6(CTC1):c.1077+1G>A	CTC1	Single nucleotide variant (splice donor variant)	Dyskeratosis congenita	GLikely pathogenic
Select item 3007515	NM_025099.6(CTC1):c.1938G>A (p.Arg646=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 3006530	NM_025099.6(CTC1):c.3011+19A>G	CTC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 3004743	NM_025099.6(CTC1):c.1815C>T (p.Ala605=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2999020	NM_025099.6(CTC1):c.2202G>C (p.Leu734Phe)	CTC1 (L734F)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2995549	NM_025099.6(CTC1):c.147C>G (p.Val49=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2995081	NM_025099.6(CTC1):c.3515-8C>T	CTC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2993366	NM_025099.6(CTC1):c.3266G>A (p.Arg1089Lys)	CTC1 (R1089K)	Single nucleotide variant (missense variant +2 more)	Dyskeratosis congenita	GUncertain significance
Select item 2993267	NM_025099.6(CTC1):c.2055G>C (p.Gln685His)	CTC1 (Q685H)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2992174	NM_025099.6(CTC1):c.1785_1786del (p.Cys596fs)	CTC1 (C596fs)	Microsatellite (frameshift variant +1 more)	Dyskeratosis congenita	GPathogenic
Select item 2991533	NM_025099.6(CTC1):c.3012-18C>T	CTC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2990922	NM_025099.6(CTC1):c.439A>G (p.Ile147Val)	CTC1 (I147V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2984120	NM_025099.6(CTC1):c.802C>T (p.Gln268Ter)	CTC1 (Q268*)	Single nucleotide variant (nonsense +1 more)	Dyskeratosis congenita	GPathogenic
Select item 2979914	NM_025099.6(CTC1):c.3441T>C (p.Thr1147=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2979683	NM_025099.6(CTC1):c.2610T>C (p.Asp870=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2974148	NM_025099.6(CTC1):c.3586T>C (p.Leu1196=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2971275	NM_025099.6(CTC1):c.1353C>G (p.Ser451=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2971255	NM_025099.6(CTC1):c.33+9T>C	CTC1, PFAS	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2969472	NM_025099.6(CTC1):c.2888C>G (p.Pro963Arg)	CTC1 (P963R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2965460	NM_025099.6(CTC1):c.603C>T (p.Ile201=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2961811	NM_025099.6(CTC1):c.2242G>T (p.Val748Phe)	CTC1 (V748F)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2959169	NM_025099.6(CTC1):c.3377C>T (p.Ala1126Val)	CTC1 (A1126V)	Single nucleotide variant (missense variant +2 more)	Dyskeratosis congenita	GUncertain significance
Select item 2919839	NM_025099.6(CTC1):c.128T>C (p.Ile43Thr)	CTC1 (I43T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2918329	NM_025099.6(CTC1):c.1198T>C (p.Cys400Arg)	CTC1 (C400R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2918088	NM_025099.6(CTC1):c.623G>A (p.Ser208Asn)	CTC1 (S208N)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2917068	NM_025099.6(CTC1):c.1819-4G>T	CTC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2915492	NM_025099.6(CTC1):c.273A>G (p.Ala91=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2914707	NM_025099.6(CTC1):c.2538T>C (p.Ala846=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2914164	NM_025099.6(CTC1):c.146_149del (p.Val49fs)	CTC1 (V49fs)	Deletion (frameshift variant +1 more)	Dyskeratosis congenita	GPathogenic
Select item 2913998	NM_025099.6(CTC1):c.67A>T (p.Ile23Phe)	CTC1 (I23F)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2913634	NM_025099.6(CTC1):c.946C>T (p.Gln316Ter)	CTC1 (Q316*)	Single nucleotide variant (nonsense +1 more)	Dyskeratosis congenita	GPathogenic
Select item 2912544	NM_025099.6(CTC1):c.3013A>T (p.Ile1005Phe)	CTC1 (I1005F)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2912028	NM_025099.6(CTC1):c.3401T>C (p.Val1134Ala)	CTC1 (V1134A +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2911992	NM_025099.6(CTC1):c.149_150delinsTT (p.Trp50Phe)	CTC1 (W50F)	Indel (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2911823	NM_025099.6(CTC1):c.1504C>T (p.Leu502=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2910412	NM_025099.6(CTC1):c.1788_1791del (p.Leu597fs)	CTC1 (L597fs)	Microsatellite (frameshift variant +1 more)	Dyskeratosis congenita	GPathogenic
Select item 2904654	NM_025099.6(CTC1):c.1566G>C (p.Arg522=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2904601	NM_025099.6(CTC1):c.198-17T>C	CTC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2899116	NM_025099.6(CTC1):c.1270T>G (p.Cys424Gly)	CTC1 (C424G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2898800	NM_025099.6(CTC1):c.2322del (p.Arg775fs)	CTC1 (R775fs)	Deletion (frameshift variant +1 more)	Dyskeratosis congenita	GPathogenic
Select item 2898606	NM_025099.6(CTC1):c.1954G>C (p.Val652Leu)	CTC1 (V652L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2894410	NM_025099.6(CTC1):c.1942A>C (p.Ile648Leu)	CTC1 (I648L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2894033	NM_025099.6(CTC1):c.723_724del (p.Lys242fs)	CTC1 (K242fs)	Deletion (frameshift variant)	Dyskeratosis congenita	GPathogenic
Select item 2892972	NM_025099.6(CTC1):c.647+11C>T	CTC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2892488	NM_025099.6(CTC1):c.939A>G (p.Glu313=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2891273	NM_025099.6(CTC1):c.702T>G (p.Ser234Arg)	CTC1 (S234R)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2891232	NM_025099.6(CTC1):c.12C>T (p.Gly4=)	CTC1, PFAS	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2891141	NM_025099.6(CTC1):c.1480C>T (p.His494Tyr)	CTC1 (H494Y)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2890462	NM_025099.6(CTC1):c.2910C>T (p.Ser970=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2890441	NM_025099.6(CTC1):c.3221+2T>C	CTC1	Single nucleotide variant (intron variant +1 more)	Dyskeratosis congenita	GLikely pathogenic
Select item 2888697	NM_025099.6(CTC1):c.1617+13G>A	CTC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2887823	NM_025099.6(CTC1):c.1548G>T (p.Pro516=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2884157	NM_025099.6(CTC1):c.1A>T (p.Met1Leu)	CTC1, PFAS (M1L)	Single nucleotide variant (missense variant +2 more)	Dyskeratosis congenita	GPathogenic
Select item 2883897	NM_025099.6(CTC1):c.1746del (p.Ser583fs)	CTC1 (S583fs)	Deletion (frameshift variant +1 more)	Dyskeratosis congenita	GPathogenic
Select item 2883820	NM_025099.6(CTC1):c.412A>G (p.Asn138Asp)	CTC1 (N138D)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2881064	NM_025099.6(CTC1):c.622A>G (p.Ser208Gly)	CTC1 (S208G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2879731	NM_025099.6(CTC1):c.463G>A (p.Gly155Ser)	CTC1 (G155S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2875619	NM_025099.6(CTC1):c.435+9A>C	CTC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2870971	NM_025099.6(CTC1):c.1108G>C (p.Ala370Pro)	CTC1 (A370P)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2864986	NM_025099.6(CTC1):c.311A>C (p.Asn104Thr)	CTC1 (N104T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2860484	NM_025099.6(CTC1):c.2908A>G (p.Ser970Gly)	CTC1 (S970G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2857185	NM_025099.6(CTC1):c.1946-4C>T	CTC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2855275	NM_025099.6(CTC1):c.436-17C>G	CTC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2854485	NM_025099.6(CTC1):c.3195_3203dup (p.Ala1067_Ile1068insMetThrAla)	CTC1	Duplication (inframe_insertion +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2852986	NM_025099.6(CTC1):c.2386-18T>G	CTC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GUncertain significance
Select item 2852985	NM_025099.6(CTC1):c.2386-16del	CTC1	Deletion (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2852571	NM_025099.6(CTC1):c.3221+15C>T	CTC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2850918	NM_025099.6(CTC1):c.754T>G (p.Ser252Ala)	CTC1 (S252A)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2850552	NM_025099.6(CTC1):c.3476T>C (p.Phe1159Ser)	CTC1 (F1082S +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2850532	NM_025099.6(CTC1):c.1026C>T (p.Asp342=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2849246	NM_025099.6(CTC1):c.2880A>G (p.Gly960=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2847973	NM_025099.6(CTC1):c.2136C>T (p.Pro712=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2841995	NM_025099.6(CTC1):c.3410C>G (p.Pro1137Arg)	CTC1 (P1060R +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance

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