Related gene-specific medical variations for Gene (Select 80169) - ClinVar

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Items: 84

	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 2971255	NM_025099.6(CTC1):c.33+9T>C	CTC1, PFAS	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
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 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 2841328	NM_025099.6(CTC1):c.33+7G>A	CTC1, PFAS	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2738911	NM_025099.6(CTC1):c.27T>A (p.Pro9=)	CTC1, PFAS	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2723180	NM_025099.6(CTC1):c.33+15T>A	CTC1, LOC130060237 +1 more	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
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 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 2413833	NM_025099.6(CTC1):c.33+6T>C	CTC1, PFAS	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GUncertain significance
Select item 2202444	NM_025099.6(CTC1):c.1A>G (p.Met1Val)	PFAS, CTC1 (M1V)	Single nucleotide variant (missense variant +2 more)	Dyskeratosis congenita	GPathogenic
Select item 2156757	NM_025099.6(CTC1):c.7G>T (p.Ala3Ser)	CTC1, PFAS (A3S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	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 2146687	NM_025099.6(CTC1):c.33+13A>G	CTC1, LOC130060237 +1 more	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2096705	NM_025099.6(CTC1):c.33+17C>A	CTC1, LOC130060237 +1 more	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2058517	NM_025099.6(CTC1):c.16G>A (p.Ala6Thr)	PFAS, CTC1 (A6T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1665687	NM_025099.6(CTC1):c.27T>C (p.Pro9=)	CTC1, PFAS	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1588202	NM_025099.6(CTC1):c.33+7G>T	CTC1, PFAS	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 1505656	NM_025099.6(CTC1):c.33+2T>G	CTC1, PFAS	Single nucleotide variant (splice donor variant)	Dyskeratosis congenita	GLikely pathogenic
Select item 1409462	NM_025099.6(CTC1):c.26C>G (p.Pro9Arg)	CTC1, PFAS (P9R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1379945	NM_025099.6(CTC1):c.26C>A (p.Pro9His)	CTC1, PFAS (P9H)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	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 1353180	NM_025099.6(CTC1):c.5C>A (p.Ala2Glu)	PFAS, CTC1 (A2E)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1342131	NM_025099.6(CTC1):c.2T>C (p.Met1Thr)	CTC1, PFAS (M1T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic
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 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 1271918	NM_025099.6(CTC1):c.33+159T>G	CTC1, PFAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227785	NM_025099.6(CTC1):c.33+144C>T	CTC1, LOC130060237 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1155574	NM_025099.6(CTC1):c.18C>G (p.Ala6=)	CTC1, PFAS	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1124927	NM_025099.6(CTC1):c.15G>C (p.Arg5=)	CTC1, PFAS	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1123892	NM_025099.6(CTC1):c.12C>G (p.Gly4=)	CTC1, PFAS	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1123223	NM_025099.6(CTC1):c.33+9T>G	CTC1, PFAS	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
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 1041890	NM_025099.6(CTC1):c.32C>A (p.Ser11Tyr)	CTC1, PFAS (S11Y)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1026305	NM_025099.6(CTC1):c.6G>A (p.Ala2=)	CTC1, PFAS	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1022405	NM_025099.6(CTC1):c.29C>T (p.Ser10Phe)	CTC1, PFAS (S10F)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1012044	NM_025099.6(CTC1):c.28T>A (p.Ser10Thr)	CTC1, PFAS (S10T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 955721	NM_025099.6(CTC1):c.33+4A>G	CTC1, PFAS	Single nucleotide variant (intron variant)	Dyskeratosis congenita	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 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 942924	NM_025099.6(CTC1):c.29C>G (p.Ser10Cys)	CTC1, PFAS (S10C)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 892257	NM_025099.6(CTC1):c.*1125G>C	CTC1, TRI-AAT4-1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 892256	NM_025099.6(CTC1):c.*1129A>G	CTC1, TRI-AAT4-1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 892198	NM_025099.6(CTC1):c.*1517G>A	CTC1, TRS-AGA2-6	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 892197	NM_025099.6(CTC1):c.*1531T>C	CTC1, TRS-AGA2-6	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 892139	NM_025099.6(CTC1):c.*1913A>G	CTC1, TRT-AGT1-2	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 892138	NM_025099.6(CTC1):c.*1933C>T	CTC1, TRT-AGT1-2	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 891030	NM_025099.6(CTC1):c.*1188C>T	CTC1, TRI-AAT4-1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 890966	NM_025099.6(CTC1):c.*1553C>T	CTC1, TRS-AGA2-6	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 888699	NM_025099.6(CTC1):c.*1900C>A	CTC1, TRT-AGT1-2	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 855509	NM_025099.6(CTC1):c.26C>T (p.Pro9Leu)	CTC1, PFAS (P9L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 845192	NM_025099.6(CTC1):c.22G>C (p.Val8Leu)	CTC1, PFAS (V8L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 701853	NM_025099.6(CTC1):c.24C>T (p.Val8=)	CTC1, PFAS	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 700329	NM_025099.6(CTC1):c.30C>T (p.Ser10=)	CTC1, PFAS	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
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 661168	NM_025099.6(CTC1):c.8C>G (p.Ala3Gly)	CTC1, PFAS (A3G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 636378	NM_025099.6(CTC1):c.104A>G (p.Asn35Ser)	CTC1 (N35S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 591574	NM_025099.6(CTC1):c.1396del (p.Leu466fs)	CTC1 (L466fs)	Deletion (frameshift variant +1 more)	not provided	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 581122	NM_025099.6(CTC1):c.25C>T (p.Pro9Ser)	CTC1, PFAS (P9S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 575990	NM_025099.6(CTC1):c.21G>C (p.Gln7His)	CTC1, PFAS (Q7H)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 559531	NM_025099.6(CTC1):c.400dup (p.Tyr134fs)	CTC1 (Y134fs)	Duplication (frameshift variant +1 more)	Interstitial lung disease 2	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
Select item 326092	NM_025099.6(CTC1):c.-10C>T	CTC1, PFAS	Single nucleotide variant (5 prime UTR variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
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 326043	NM_025099.6(CTC1):c.*1130G>C	CTC1, TRI-AAT4-1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326042	NM_025099.6(CTC1):c.*1134G>A	CTC1, TRI-AAT4-1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326041	NM_025099.6(CTC1):c.*1148C>A	CTC1, TRI-AAT4-1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326040	NM_025099.6(CTC1):c.*1155C>T	TRI-AAT4-1, CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis Congenita, Recessive	GUncertain significance
Select item 326039	NM_025099.6(CTC1):c.*1156G>A	CTC1, TRI-AAT4-1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326038	NM_025099.6(CTC1):c.*1166C>T	CTC1, TRI-AAT4-1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326037	NM_025099.6(CTC1):c.*1176C>T	CTC1, TRI-AAT4-1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326036	NM_025099.6(CTC1):c.*1177C>T	CTC1, TRI-AAT4-1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326022	NM_025099.6(CTC1):c.*1495G>A	CTC1, TRS-AGA2-6	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326021	NM_025099.6(CTC1):c.*1534G>A	CTC1, TRS-AGA2-6	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326020	NM_025099.6(CTC1):c.*1540C>T	CTC1, TRS-AGA2-6	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326019	NM_025099.6(CTC1):c.*1542C>G	CTC1, TRS-AGA2-6	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326018	NM_025099.6(CTC1):c.*1565A>G	CTC1, TRS-AGA2-6	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326017	NM_025099.6(CTC1):c.*1569C>T	CTC1, TRS-AGA2-6	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326003	NM_025099.6(CTC1):c.*1930A>G	TRT-AGT1-2, CTC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326002	NM_025099.6(CTC1):c.*1936A>G	CTC1, TRT-AGT1-2	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326001	NM_025099.6(CTC1):c.*1939G>A	CTC1, TRT-AGT1-2	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 326000	NM_025099.6(CTC1):c.1939_1940insT	CTC1, TRT-AGT1-2	Insertion (3 prime UTR variant +1 more)	Dyskeratosis Congenita, Recessive	GUncertain significance

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Links from Gene

Items: 84