ClinVar for Gene (Select 1213) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3582390	NM_004859.4(CLTC):c.1425A>T (p.Ala475=)	CLTC	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 56	GUncertain significance
Select item 3493990	NM_004859.4(CLTC):c.592G>A (p.Ala198Thr)	CLTC (A198T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3493988	NM_004859.4(CLTC):c.469C>A (p.Arg157Ser)	CLTC (R161S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3493987	NM_004859.4(CLTC):c.1006C>T (p.Pro336Ser)	CLTC (P340S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3393310	NM_004859.4(CLTC):c.1752_1755del (p.Leu585fs)	CLTC (L585fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 56	GLikely pathogenic
Select item 3390648	NM_004859.4(CLTC):c.1379C>T (p.Ser460Phe)	CLTC (S460F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3385401	NM_004859.4(CLTC):c.4790C>T (p.Pro1597Leu)	CLTC (P1597L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 56	GUncertain significance
Select item 3384538	NM_004859.4(CLTC):c.2132T>C (p.Leu711Pro)	CLTC (L711P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3383466	NM_004859.4(CLTC):c.1323G>C (p.Gln441His)	CLTC (Q441H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3382817	NM_004859.4(CLTC):c.4098del (p.Asp1366fs)	CLTC, LOC126862609 (D1366fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 56	GLikely pathogenic
Select item 3382723	NM_004859.4(CLTC):c.1495C>T (p.Gln499Ter)	CLTC (Q499* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 56	GPathogenic
Select item 3382699	NM_004859.4(CLTC):c.1647_1653del	CLTC	Microsatellite (splice acceptor variant)	Intellectual disability, autosomal dominant 56	GPathogenic
Select item 3382103	NM_004859.4(CLTC):c.1168-1G>T	CLTC	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 56	GUncertain significance
Select item 3380904	NM_004859.4(CLTC):c.4324-8T>G	CLTC, LOC126862609	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 56	GLikely pathogenic
Select item 3373428	NM_004859.4(CLTC):c.1760T>C (p.Met587Thr)	CLTC (M587T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372793	NM_004859.4(CLTC):c.4955A>G (p.Gln1652Arg)	CLTC (Q1652R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372792	NM_004859.4(CLTC):c.3566T>G (p.Phe1189Cys)	CLTC (F1189C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372049	NM_004859.4(CLTC):c.791T>A (p.Met264Lys)	CLTC (M264K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370903	NM_004859.4(CLTC):c.2573T>C (p.Leu858Pro)	CLTC (L858P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370714	NM_004859.4(CLTC):c.2056G>A (p.Ala686Thr)	CLTC (A686T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370220	NM_004859.4(CLTC):c.2145G>A (p.Leu715=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3369906	NM_004859.4(CLTC):c.2429G>A (p.Ser810Asn)	CLTC (S810N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367424	NM_004859.4(CLTC):c.2899A>T (p.Arg967Trp)	CLTC (R967W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365742	NM_004859.4(CLTC):c.91A>T (p.Thr31Ser)	CLTC (T31S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365226	NM_004859.4(CLTC):c.4928C>T (p.Ala1643Val)	CLTC (A1643V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364200	NM_004859.4(CLTC):c.2601_2603dup (p.His867_Glu868insAsp)	CLTC	Duplication	not provided	GUncertain significance
Select item 3360392	NM_004859.4(CLTC):c.1413C>A (p.Asp471Glu)	CLTC (D471E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3351653	NM_004859.4(CLTC):c.*9G>A	CLTC	Single nucleotide variant (3 prime UTR variant)	CLTC-related disorder	GLikely benign
Select item 3345308	NM_004859.4(CLTC):c.4358G>A (p.Arg1453His)	CLTC, LOC126862609 (R1453H +1 more)	Single nucleotide variant (missense variant)	CLTC-related disorder	GUncertain significance
Select item 3343762	NM_004859.4(CLTC):c.1031A>G (p.Asn344Ser)	CLTC (N344S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343537	NM_004859.4(CLTC):c.3382T>A (p.Tyr1128Asn)	CLTC (Y1128N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343295	NM_004859.4(CLTC):c.34C>T (p.His12Tyr)	CLTC (H12Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343142	NM_004859.4(CLTC):c.893T>C (p.Ile298Thr)	CLTC (I298T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341343	NM_004859.4(CLTC):c.3373A>G (p.Ile1125Val)	CLTC (I1125V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 56	GUncertain significance
Select item 3341048	NM_004859.4(CLTC):c.4553A>G (p.Asn1518Ser)	CLTC, LOC125177523 (N1518S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337918	NM_004859.4(CLTC):c.4439T>C (p.Leu1480Pro)	CLTC, LOC125177523 (L1480P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3337917	NM_004859.4(CLTC):c.630del (p.Glu211fs)	CLTC (E211fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3267910	NM_004859.4(CLTC):c.3526G>A (p.Ala1176Thr)	CLTC (A1176T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267909	NM_004859.4(CLTC):c.2391A>C (p.Gln797His)	CLTC (Q797H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267908	NM_004859.4(CLTC):c.3091A>T (p.Thr1031Ser)	CLTC (T1035S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267907	NM_004859.4(CLTC):c.2842G>A (p.Val948Ile)	CLTC (V948I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3254969	NM_004859.4(CLTC):c.250+3A>G	CLTC (I85V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 56	GLikely pathogenic
Select item 3252980	NM_004859.4(CLTC):c.4191+5G>A	CLTC, LOC126862609	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3252451	NM_004859.4(CLTC):c.4904-6C>G	CLTC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3252348	NM_004859.4(CLTC):c.146A>G (p.Gln49Arg)	CLTC (Q49R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251057	NM_004859.4(CLTC):c.1189A>G (p.Thr397Ala)	CLTC (T397A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251024	NM_004859.4(CLTC):c.2531A>G (p.Glu844Gly)	CLTC (E844G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3243144	NC_000017.10:g.(?_57733195)_(57771213_?)dup	CLTC	Duplication	not provided	GUncertain significance
Select item 3243143	NC_000017.10:g.(?_57697493)_(57761366_?)dup	CLTC	Duplication	not provided	GUncertain significance
Select item 3243141	NC_000017.10:g.(?_57737732)_(57739024_?)del	CLTC	Deletion	not provided	GUncertain significance
Select item 3243140	NC_000017.10:g.(?_57721617)_(57771213_?)del	CLTC	Deletion	not provided	GPathogenic
Select item 3237525	NM_004859.4(CLTC):c.4080A>C (p.Glu1360Asp)	CLTC, LOC126862609 (E1360D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3236797	NM_004859.4(CLTC):c.346_347del (p.Leu116fs)	CLTC (L116fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 56	GLikely pathogenic
Select item 3146095	NM_004859.4(CLTC):c.602T>C (p.Phe201Ser)	CLTC (F201S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146094	NM_004859.4(CLTC):c.485A>G (p.Gln162Arg)	CLTC (Q162R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146093	NM_004859.4(CLTC):c.4349C>T (p.Pro1450Leu)	CLTC, LOC126862609 (P1450L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146090	NM_004859.4(CLTC):c.2302C>G (p.Leu768Val)	CLTC (L768V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146089	NM_004859.4(CLTC):c.1160C>T (p.Ala387Val)	CLTC (A391V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3066075	NM_004859.4(CLTC):c.4686_4687del (p.Glu1564fs)	CLTC (E1564fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 56	GPathogenic
Select item 3066041	NM_004859.4(CLTC):c.3049_3050del (p.Val1017fs)	CLTC (V1017fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 56	GPathogenic
Select item 3063567	NM_004859.4(CLTC):c.1824T>G (p.Tyr608Ter)	CLTC (Y608* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 56	GLikely pathogenic
Select item 3046702	NM_004859.4(CLTC):c.1920G>C (p.Val640=)	CLTC	Single nucleotide variant (synonymous variant)	CLTC-related disorder	GLikely benign
Select item 3040231	NM_004859.4(CLTC):c.*6A>G	CLTC	Single nucleotide variant (3 prime UTR variant)	CLTC-related disorder	GLikely benign
Select item 3030403	NM_004859.4(CLTC):c.397G>T (p.Glu133Ter)	CLTC (E133* +1 more)	Single nucleotide variant (nonsense)	CLTC-related disorder	GLikely pathogenic
Select item 3027119	NM_004859.4(CLTC):c.2708G>A (p.Arg903His)	CLTC (R903H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023127	NM_004859.4(CLTC):c.4209A>G (p.Leu1403=)	CLTC, LOC126862609	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021200	NM_004859.4(CLTC):c.1958A>G (p.Asn653Ser)	CLTC (N653S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021108	NM_004859.4(CLTC):c.1867C>T (p.Leu623=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016405	NM_004859.4(CLTC):c.4356G>A (p.Leu1452=)	CLTC, LOC126862609	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016034	NM_004859.4(CLTC):c.3249+4A>C	CLTC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3009847	NM_004859.4(CLTC):c.1515T>C (p.Ala505=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009686	NM_004859.4(CLTC):c.1783-20C>A	CLTC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009332	NM_004859.4(CLTC):c.2892T>A (p.Asn964Lys)	CLTC (N968K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005642	NM_004859.4(CLTC):c.4904-7A>G	CLTC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005246	NM_004859.4(CLTC):c.1980A>G (p.Val660=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005202	NM_004859.4(CLTC):c.2316A>G (p.Leu772=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004670	NM_004859.4(CLTC):c.1213C>G (p.Pro405Ala)	CLTC (P409A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002830	NM_004859.4(CLTC):c.1222C>T (p.Pro408Ser)	CLTC (P412S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001721	NM_004859.4(CLTC):c.925C>T (p.His309Tyr)	CLTC (H309Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001673	NM_004859.4(CLTC):c.742G>A (p.Val248Met)	CLTC (V252M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000773	NM_004859.4(CLTC):c.3966T>C (p.Ile1322=)	CLTC, LOC126862609	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999462	NM_004859.4(CLTC):c.2376T>C (p.Tyr792=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998352	NM_004859.4(CLTC):c.4988C>T (p.Pro1663Leu)	CLTC (P1663L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997954	NM_004859.4(CLTC):c.4904-17G>T	CLTC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997311	NM_004859.4(CLTC):c.4981G>A (p.Ala1661Thr)	CLTC (A1661T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996658	NM_004859.4(CLTC):c.4904-17G>A	CLTC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996075	NM_004859.4(CLTC):c.4192-15A>G	CLTC, LOC126862609	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993539	NM_004859.4(CLTC):c.970-16A>G	CLTC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993333	NM_004859.4(CLTC):c.3634G>A (p.Asp1212Asn)	CLTC (D1212N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992470	NM_004859.4(CLTC):c.1185A>G (p.Pro395=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2992001	NM_004859.4(CLTC):c.1198C>A (p.Arg400=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990787	NM_004859.4(CLTC):c.214A>G (p.Ile72Val)	CLTC (I72V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990031	NM_004859.4(CLTC):c.2418+9T>C	CLTC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988663	NM_004859.4(CLTC):c.117C>T (p.Cys39=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987415	NM_004859.4(CLTC):c.3672T>C (p.Phe1224=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983303	NM_004859.4(CLTC):c.1783-19C>T	CLTC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983279	NM_004859.4(CLTC):c.2128+16T>G	CLTC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982863	NM_004859.4(CLTC):c.1134G>A (p.Ser378=)	CLTC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978403	NM_004859.4(CLTC):c.4492C>T (p.Arg1498Cys)	CLTC, LOC125177523 (R1498C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976974	NM_004859.4(CLTC):c.4434+6dup	CLTC, LOC126862609	Duplication (intron variant)	not provided	GLikely benign

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