ClinVar for Gene (Select 9894) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369833	NM_016111.4(TELO2):c.1490C>A (p.Pro497His)	TELO2 (P497H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367131	NM_016111.4(TELO2):c.946C>T (p.Gln316Ter)	TELO2 (Q316*)	Single nucleotide variant (nonsense)	TELO2-related intellectual disability-neurodevelopmental disorder	GLikely pathogenic
Select item 3364652	NM_016111.4(TELO2):c.785G>A (p.Arg262Gln)	TELO2 (R262Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359670	NM_016111.4(TELO2):c.808G>A (p.Gly270Arg)	TELO2 (G270R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339339	NM_016111.4(TELO2):c.1612_1621dup (p.Leu541delinsProTer)	TELO2	Duplication (nonsense)	TELO2-related intellectual disability-neurodevelopmental disorder	GPathogenic
Select item 3339225	NM_016111.4(TELO2):c.2226+1G>C	TELO2	Single nucleotide variant (splice donor variant)	TELO2-related intellectual disability-neurodevelopmental disorder	GLikely pathogenic
Select item 3325290	NM_016111.4(TELO2):c.2248G>C (p.Ala750Pro)	TELO2 (A750P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325288	NM_016111.4(TELO2):c.50A>G (p.His17Arg)	TELO2 (H17R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325287	NM_016111.4(TELO2):c.2486A>C (p.Asn829Thr)	TELO2 (N829T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325286	NM_016111.4(TELO2):c.2083G>A (p.Val695Met)	TELO2 (V695M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325285	NM_016111.4(TELO2):c.1552T>G (p.Cys518Gly)	TELO2 (C518G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325284	NM_016111.4(TELO2):c.1121C>T (p.Pro374Leu)	TELO2 (P374L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325283	NM_016111.4(TELO2):c.2407G>T (p.Asp803Tyr)	TELO2 (D803Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325282	NM_016111.4(TELO2):c.100T>A (p.Ser34Thr)	TELO2 (S34T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253470	NM_016111.4(TELO2):c.2000A>G (p.Glu667Gly)	TELO2 (E667G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3243622	NC_000016.9:g.(?_256302)_(1557737_?)del	TELO2, STUB1 +53 more	Deletion	not provided	GPathogenic
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 3175818	NM_016111.4(TELO2):c.782A>G (p.Asp261Gly)	TELO2 (D261G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175817	NM_016111.4(TELO2):c.733A>G (p.Ser245Gly)	TELO2 (S245G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175816	NM_016111.4(TELO2):c.673G>A (p.Gly225Arg)	TELO2 (G225R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175815	NM_016111.4(TELO2):c.602A>G (p.Asp201Gly)	TELO2 (D201G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175814	NM_016111.4(TELO2):c.2329G>A (p.Val777Ile)	TELO2 (V777I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175813	NM_016111.4(TELO2):c.2303A>G (p.Gln768Arg)	TELO2 (Q768R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3175812	NM_016111.4(TELO2):c.2197G>T (p.Ala733Ser)	TELO2 (A733S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175811	NM_016111.4(TELO2):c.1835T>A (p.Ile612Asn)	TELO2 (I612N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175810	NM_016111.4(TELO2):c.1727G>T (p.Arg576Leu)	TELO2 (R576L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175809	NM_016111.4(TELO2):c.1588C>T (p.Arg530Cys)	TELO2 (R530C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175808	NM_016111.4(TELO2):c.1474G>A (p.Asp492Asn)	TELO2 (D492N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175807	NM_016111.4(TELO2):c.1369C>G (p.Leu457Val)	TELO2 (L457V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3175805	NM_016111.4(TELO2):c.1262G>A (p.Gly421Glu)	TELO2 (G421E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065649	NM_016111.4(TELO2):c.1546C>T (p.Arg516Trp)	TELO2 (R516W)	Single nucleotide variant (missense variant)	TELO2-related intellectual disability-neurodevelopmental disorder	GUncertain significance
Select item 3046383	NM_016111.4(TELO2):c.465G>T (p.Thr155=)	TELO2	Single nucleotide variant (synonymous variant)	TELO2-related disorder	GLikely benign
Select item 3040594	NM_016111.4(TELO2):c.363G>A (p.Ala121=)	TELO2	Single nucleotide variant (synonymous variant)	TELO2-related disorder	GLikely benign
Select item 3039319	NM_016111.4(TELO2):c.672C>T (p.His224=)	TELO2	Single nucleotide variant (synonymous variant)	TELO2-related disorder	GLikely benign
Select item 3023922	NM_016111.4(TELO2):c.1317C>T (p.Ala439=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023418	NM_016111.4(TELO2):c.1770+17G>A	TELO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023009	NM_016111.4(TELO2):c.2493C>T (p.Leu831=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022828	NM_016111.4(TELO2):c.336-11C>G	TELO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019839	NM_016111.4(TELO2):c.2106C>T (p.Pro702=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019174	NM_016111.4(TELO2):c.2427G>A (p.Pro809=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017663	NM_016111.4(TELO2):c.1416C>T (p.Ile472=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015873	NM_016111.4(TELO2):c.1329C>G (p.Pro443=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014349	NM_016111.4(TELO2):c.594G>C (p.Ala198=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005089	NM_016111.4(TELO2):c.1980C>T (p.Asp660=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002907	NM_016111.4(TELO2):c.1614T>C (p.Leu538=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994940	NM_016111.4(TELO2):c.2043G>A (p.Pro681=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993901	NM_016111.4(TELO2):c.1281+19C>T	TELO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993166	NM_016111.4(TELO2):c.1284C>T (p.Tyr428=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992088	NM_016111.4(TELO2):c.400G>T (p.Ala134Ser)	TELO2 (A134S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2992049	NM_016111.4(TELO2):c.1770+20G>A	TELO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990700	NM_016111.4(TELO2):c.2445G>A (p.Thr815=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989904	NM_016111.4(TELO2):c.1035C>T (p.Ser345=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985534	NM_016111.4(TELO2):c.860A>G (p.Asn287Ser)	TELO2 (N287S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981385	NM_016111.4(TELO2):c.77G>T (p.Gly26Val)	TELO2 (G26V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980637	NM_016111.4(TELO2):c.569_570del (p.Glu190fs)	TELO2 (E190fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2980513	NM_016111.4(TELO2):c.1077C>T (p.His359=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979995	NM_016111.4(TELO2):c.1792C>G (p.Gln598Glu)	TELO2 (Q598E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977788	NM_016111.4(TELO2):c.1140G>A (p.Arg380=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977734	NM_016111.4(TELO2):c.1347C>T (p.Gly449=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976111	NM_016111.4(TELO2):c.2226+7C>T	TELO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973991	NM_016111.4(TELO2):c.129G>A (p.Glu43=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970766	NM_016111.4(TELO2):c.1282-16T>C	TELO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970525	NM_016111.4(TELO2):c.1842+17C>T	TELO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969718	NM_016111.4(TELO2):c.2291+20G>A	TELO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968896	NM_016111.4(TELO2):c.1602C>T (p.Ala534=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968894	NM_016111.4(TELO2):c.990G>C (p.Pro330=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965746	NM_016111.4(TELO2):c.335+15C>T	TELO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964091	NM_016111.4(TELO2):c.1562-11G>A	TELO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963596	NM_016111.4(TELO2):c.2292-16G>A	TELO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962894	NM_016111.4(TELO2):c.2097C>T (p.Phe699=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961909	NM_016111.4(TELO2):c.1361+16C>T	TELO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960703	NM_016111.4(TELO2):c.2034+10G>A	TELO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960410	NM_016111.4(TELO2):c.1653+7G>T	TELO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959452	NM_016111.4(TELO2):c.2226+8G>A	TELO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959191	NM_016111.4(TELO2):c.1361+19C>T	TELO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2958891	NM_016111.4(TELO2):c.2126+16G>T	TELO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958579	NM_016111.4(TELO2):c.2035-20G>A	TELO2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2955440	NM_016111.4(TELO2):c.567C>G (p.Gly189=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2914188	NM_016111.4(TELO2):c.807C>T (p.Thr269=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898979	NM_016111.4(TELO2):c.613+7C>T	TELO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895956	NM_016111.4(TELO2):c.2382G>T (p.Leu794=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894997	NM_016111.4(TELO2):c.2034+9C>T	TELO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893027	NM_016111.4(TELO2):c.2164C>T (p.Leu722=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892647	NM_016111.4(TELO2):c.1803C>T (p.Ala601=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890948	NM_016111.4(TELO2):c.1776C>T (p.Ala592=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889421	NM_016111.4(TELO2):c.2407+9C>T	TELO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888479	NM_016111.4(TELO2):c.1842+9C>T	TELO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2887973	NM_016111.4(TELO2):c.2199C>A (p.Ala733=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885966	NM_016111.4(TELO2):c.780G>A (p.Pro260=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880077	NM_016111.4(TELO2):c.510C>T (p.Arg170=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878035	NM_016111.4(TELO2):c.1672A>G (p.Lys558Glu)	TELO2 (K558E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878034	NM_016111.4(TELO2):c.168G>A (p.Ser56=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2877820	NM_016111.4(TELO2):c.2424C>T (p.Asp808=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873811	NM_016111.4(TELO2):c.2352G>A (p.Ala784=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870786	NM_016111.4(TELO2):c.990G>A (p.Pro330=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870493	NM_016111.4(TELO2):c.2214T>A (p.Ala738=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856816	NM_016111.4(TELO2):c.285G>T (p.Pro95=)	TELO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833683	NM_016111.4(TELO2):c.2291+9C>T	TELO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831679	NM_016111.4(TELO2):c.742_830+600del	TELO2	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2830852	NM_016111.4(TELO2):c.933+17G>C	TELO2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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