ClinVar for MedGen (Select 1636142) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2585520	NM_025099.6(CTC1):c.2176del (p.His726fs)	CTC1 (H726fs)	Deletion (frameshift variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1	GLikely pathogenic
Select item 2582454	NM_025099.6(CTC1):c.371_372dup (p.Glu125fs)	CTC1 (E125fs)	Duplication (frameshift variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1	GPathogenic
Select item 2445707	NM_025099.6(CTC1):c.798_802del (p.Gln268fs)	CTC1 (Q268fs)	Deletion (frameshift variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1	GLikely pathogenic
Select item 2064317	NM_025099.6(CTC1):c.973C>T (p.Pro325Ser)	CTC1 (P325S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 1908791	NM_025099.6(CTC1):c.3152G>A (p.Arg1051Gln)	CTC1 (R1051Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 1805563	NM_025099.6(CTC1):c.1535A>T (p.Asp512Val)	CTC1 (D512V)	Single nucleotide variant (missense variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1	GUncertain significance
Select item 1685681	NM_025099.6(CTC1):c.2346del (p.Leu783fs)	CTC1 (L783fs)	Deletion (frameshift variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1	GPathogenic
Select item 1664573	NM_025099.6(CTC1):c.1899G>C (p.Leu633=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +1 more	GLikely benign
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 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 1455096	NM_025099.6(CTC1):c.1683dup (p.Lys562Ter)	CTC1 (K562*)	Duplication (nonsense +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 1452442	NM_025099.6(CTC1):c.1360del (p.Glu454fs)	CTC1 (E454fs)	Deletion (frameshift variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +1 more	GPathogenic/Likely pathogenic
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 1372467	NM_025099.6(CTC1):c.14G>A (p.Arg5Gln)	CTC1, PFAS (R5Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 1324187	NM_025099.6(CTC1):c.3221+1G>A	CTC1	Single nucleotide variant (intron variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1	GLikely pathogenic
Select item 1324186	NM_025099.6(CTC1):c.1818+1G>A	CTC1	Single nucleotide variant (splice donor variant)	Dyskeratosis congenita +1 more	GLikely pathogenic
Select item 1324185	NM_025099.6(CTC1):c.2T>A (p.Met1Lys)	CTC1, PFAS (M1K)	Single nucleotide variant (missense variant +2 more)	Dyskeratosis congenita +1 more	GPathogenic/Likely pathogenic
Select item 1322170	NM_025099.6(CTC1):c.2581G>T (p.Glu861Ter)	CTC1 (E861*)	Single nucleotide variant (nonsense +1 more)	Dyskeratosis congenita +1 more	GPathogenic
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 1185025	NM_025099.6(CTC1):c.131_134del (p.Asp44fs)	CTC1 (D44fs)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 1073096	NM_025099.6(CTC1):c.1753C>T (p.Gln585Ter)	CTC1 (Q585*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 1066973	NM_025099.6(CTC1):c.1A>C (p.Met1Leu)	CTC1, PFAS (M1L)	Single nucleotide variant (missense variant +2 more)	Dyskeratosis congenita +1 more	GPathogenic/Likely pathogenic
Select item 1041414	NM_025099.6(CTC1):c.1871G>A (p.Arg624Gln)	CTC1 (R624Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 1017425	NM_025099.6(CTC1):c.1682G>A (p.Arg561His)	CTC1 (R561H)	Single nucleotide variant (missense variant +1 more)	CTC1-related condition +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 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 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 973633	NM_025099.6(CTC1):c.2996C>A (p.Pro999His)	CTC1 (P999H)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 971519	NM_025099.6(CTC1):c.421G>A (p.Val141Ile)	CTC1 (V141I)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 967120	NM_025099.6(CTC1):c.2522G>A (p.Arg841His)	CTC1 (R841H)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
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
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 935334	NM_025099.6(CTC1):c.2386-1G>A	CTC1	Single nucleotide variant (splice acceptor variant)	Dyskeratosis congenita +1 more	GLikely pathogenic
Select item 892375	NM_025099.6(CTC1):c.2333G>A (p.Gly778Asp)	CTC1 (G778D)	Single nucleotide variant (missense variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +1 more	GUncertain significance
Select item 892374	NM_025099.6(CTC1):c.2371G>A (p.Asp791Asn)	CTC1 (D791N)	Single nucleotide variant (missense variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +1 more	GUncertain significance
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 889730	NM_025099.6(CTC1):c.197+15C>T	CTC1	Single nucleotide variant (intron variant)	Cerebroretinal microangiopathy with calcifications and cysts 1 +2 more	GBenign/Likely benign
Select item 889667	NM_025099.6(CTC1):c.1617+11G>A	CTC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita +1 more	GBenign
Select item 888978	NM_025099.6(CTC1):c.2012C>G (p.Ser671Cys)	CTC1 (S671C)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 888923	NM_025099.6(CTC1):c.3494C>T (p.Pro1165Leu)	CTC1 (P1165L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 888922	NM_025099.6(CTC1):c.3505G>A (p.Val1169Ile)	CTC1 (V1169I)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 863817	NM_025099.6(CTC1):c.1241G>A (p.Gly414Glu)	CTC1 (G414E)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 862298	NM_025099.6(CTC1):c.917G>A (p.Arg306His)	CTC1 (R306H)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 862044	NM_025099.6(CTC1):c.1070_1074del (p.Ser357fs)	CTC1 (S357fs)	Microsatellite (frameshift variant +1 more)	Dyskeratosis congenita +1 more	GPathogenic/Likely pathogenic
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 843472	NM_025099.6(CTC1):c.3019del (p.Leu1007fs)	CTC1 (L1007fs)	Deletion (frameshift variant +1 more)	CTC1-related condition +3 more	GPathogenic
Select item 843237	NM_025099.6(CTC1):c.3196A>T (p.Thr1066Ser)	CTC1 (T1066S)	Single nucleotide variant (missense variant)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 840769	NM_025099.6(CTC1):c.2831dup (p.His945fs)	CTC1 (H945fs)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 803320	NM_025099.6(CTC1):c.248G>A (p.Ser83Asn)	CTC1 (S83N)	Single nucleotide variant (missense variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +1 more	GUncertain significance
Select item 803319	NM_025099.6(CTC1):c.2453G>A (p.Arg818Gln)	CTC1 (R818Q)	Single nucleotide variant (missense variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +1 more	GUncertain significance
Select item 706711	NM_025099.6(CTC1):c.1548G>A (p.Pro516=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 700777	NM_025099.6(CTC1):c.1946-6C>T	CTC1	Single nucleotide variant (intron variant)	Cerebroretinal microangiopathy with calcifications and cysts 1 +1 more	GConflicting classifications of pathogenicity
Select item 698785	NM_025099.6(CTC1):c.3498G>A (p.Ser1166=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +1 more	GConflicting classifications of pathogenicity
Select item 698540	NM_025099.6(CTC1):c.24C>A (p.Val8=)	CTC1, PFAS	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 697630	NM_025099.6(CTC1):c.233G>A (p.Arg78His)	CTC1 (R78H)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +3 more	GBenign/Likely benign
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 662984	NM_025099.6(CTC1):c.391G>A (p.Gly131Arg)	CTC1 (G131R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GConflicting classifications of pathogenicity
Select item 661461	NM_025099.6(CTC1):c.502C>T (p.Pro168Ser)	CTC1 (P168S)	Single nucleotide variant (missense variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +2 more	GUncertain significance
Select item 660443	NM_025099.6(CTC1):c.833G>T (p.Gly278Val)	CTC1 (G278V)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 653432	NM_025099.6(CTC1):c.248_251dup (p.His84fs)	CTC1 (H84fs)	Duplication (frameshift variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +1 more	GPathogenic/Likely pathogenic
Select item 652060	NM_025099.6(CTC1):c.2278G>A (p.Ala760Thr)	CTC1 (A760T)	Single nucleotide variant (missense variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +1 more	GConflicting classifications of pathogenicity
Select item 647135	NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs)	CTC1 (P999fs)	Deletion (frameshift variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +2 more	GPathogenic/Likely pathogenic
Select item 631531	NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly)	CTC1 (R975G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 596465	NM_025099.6(CTC1):c.3604C>T (p.Arg1202Ter)	CTC1 (R1202*)	Single nucleotide variant (nonsense +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 593195	NM_025099.6(CTC1):c.2698G>A (p.Ala900Thr)	CTC1 (A900T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 581397	NM_025099.6(CTC1):c.8C>T (p.Ala3Val)	CTC1, PFAS (A3V)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 577242	NM_025099.6(CTC1):c.1585C>A (p.Leu529Ile)	CTC1 (L529I)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
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 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 566990	NM_025099.6(CTC1):c.738C>G (p.Ile246Met)	CTC1 (I246M)	Single nucleotide variant (missense variant)	Cerebroretinal microangiopathy with calcifications and cysts 1 +1 more	GUncertain significance
Select item 562199	NM_025099.6(CTC1):c.2996dup (p.Pro999_Glu1000insTer)	CTC1	Duplication (frameshift variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1	GLikely pathogenic
Select item 529193	NM_025099.6(CTC1):c.195T>C (p.Tyr65=)	CTC1	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita +1 more	GConflicting classifications of pathogenicity
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 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 459606	NM_025099.6(CTC1):c.862G>A (p.Val288Met)	CTC1 (V288M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 459605	NM_025099.6(CTC1):c.597G>A (p.Thr199=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
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 459603	NM_025099.6(CTC1):c.34-9T>G	CTC1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 459599	NM_025099.6(CTC1):c.2767G>T (p.Gly923Trp)	CTC1 (G923W)	Single nucleotide variant (missense variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +1 more	GUncertain significance
Select item 459596	NM_025099.6(CTC1):c.2353G>A (p.Glu785Lys)	CTC1 (E785K)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GBenign
Select item 459595	NM_025099.6(CTC1):c.1958G>A (p.Arg653Gln)	CTC1 (R653Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GConflicting classifications of pathogenicity
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 459589	NM_025099.6(CTC1):c.1207-4C>T	CTC1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 451273	NM_025099.6(CTC1):c.3532C>T (p.Arg1178Ter)	CTC1 (R1178*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GUncertain significance
Select item 439562	NM_025099.6(CTC1):c.598C>T (p.Pro200Ser)	CTC1 (P200S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 434856	NM_025099.6(CTC1):c.3605G>A (p.Arg1202Gln)	CTC1 (R1202Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GUncertain significance
Select item 434855	NM_025099.6(CTC1):c.147C>T (p.Val49=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 434854	NM_025099.6(CTC1):c.3222-4A>G	CTC1	Single nucleotide variant (intron variant)	CTC1-related condition +3 more	GConflicting classifications of pathogenicity
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
Select item 434851	NM_025099.6(CTC1):c.363G>A (p.Ser121=)	CTC1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 434849	NM_025099.6(CTC1):c.1625G>A (p.Arg542Gln)	CTC1 (R542Q)	Single nucleotide variant (missense variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +2 more	GUncertain significance
Select item 412531	NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser)	CTC1 (P574S)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
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 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 392201	NM_025099.6(CTC1):c.1459A>G (p.Arg487Gly)	CTC1 (R487G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 326091	NM_025099.6(CTC1):c.13C>G (p.Arg5Gly)	CTC1, PFAS (R5G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 326090	NM_025099.6(CTC1):c.33C>T (p.Ser11=)	CTC1, PFAS	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
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 326088	NM_025099.6(CTC1):c.189C>G (p.Leu63=)	CTC1	Single nucleotide variant (synonymous variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +1 more	GBenign/Likely benign

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