ClinVar for Gene (Select 81027) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 3184755	NM_030773.4(TUBB1):c.520A>C (p.Lys174Gln)	TUBB1 (K174Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3036647	NM_030773.4(TUBB1):c.942C>T (p.Ala314=)	TUBB1	Single nucleotide variant (synonymous variant)	TUBB1-related disorder	GLikely benign
Select item 3020925	NM_030773.4(TUBB1):c.1279G>A (p.Asp427Asn)	TUBB1 (D427N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3018496	NM_030773.4(TUBB1):c.1063G>A (p.Asp355Asn)	TUBB1 (D355N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017110	NM_030773.4(TUBB1):c.845G>A (p.Arg282Gln)	TUBB1 (R282Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015237	NM_030773.4(TUBB1):c.991C>T (p.Leu331Phe)	TUBB1 (L331F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004504	NM_030773.4(TUBB1):c.19A>G (p.Ile7Val)	TUBB1 (I7V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970591	NM_030773.4(TUBB1):c.321G>A (p.Thr107=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906902	NM_030773.4(TUBB1):c.166+10G>T	TUBB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905753	NM_030773.4(TUBB1):c.165C>A (p.Tyr55Ter)	TUBB1 (Y55*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2905522	NM_030773.4(TUBB1):c.540G>A (p.Val180=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896428	NM_030773.4(TUBB1):c.1320G>A (p.Glu440=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896308	NM_030773.4(TUBB1):c.1115C>T (p.Thr372Met)	TUBB1 (T372M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895230	NM_030773.4(TUBB1):c.796T>C (p.Phe266Leu)	TUBB1 (F266L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888449	NM_030773.4(TUBB1):c.1342G>A (p.Asp448Asn)	TUBB1 (D448N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2888364	NM_030773.4(TUBB1):c.728C>T (p.Pro243Leu)	TUBB1 (P243L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888052	NM_030773.4(TUBB1):c.110G>A (p.Arg37His)	TUBB1 (R37H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886442	NM_030773.4(TUBB1):c.1322A>C (p.Glu441Ala)	TUBB1 (E441A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2885440	NM_030773.4(TUBB1):c.119C>T (p.Ser40Leu)	TUBB1 (S40L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880579	NM_030773.4(TUBB1):c.34T>A (p.Cys12Ser)	TUBB1 (C12S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880309	NM_030773.4(TUBB1):c.1115C>G (p.Thr372Arg)	TUBB1 (T372R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879614	NM_030773.4(TUBB1):c.330_334del (p.Glu111fs)	TUBB1 (E111fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2879523	NM_030773.4(TUBB1):c.1090G>A (p.Ala364Thr)	TUBB1 (A364T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879069	NM_030773.4(TUBB1):c.278-4A>G	TUBB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878086	NM_030773.4(TUBB1):c.617C>T (p.Ala206Val)	TUBB1 (A206V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874847	NM_030773.4(TUBB1):c.763G>A (p.Val255Met)	TUBB1 (V255M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873391	NM_030773.4(TUBB1):c.57+10G>A	TUBB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872708	NM_030773.4(TUBB1):c.654G>A (p.Thr218=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872684	NM_030773.4(TUBB1):c.1025T>G (p.Val342Gly)	TUBB1 (V342G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872296	NM_030773.4(TUBB1):c.86G>A (p.Gly29Glu)	TUBB1 (G29E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871652	NM_030773.4(TUBB1):c.505G>A (p.Val169Ile)	TUBB1 (V169I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870575	NM_030773.4(TUBB1):c.277+10del	TUBB1	Deletion (intron variant)	not provided	GBenign
Select item 2869686	NM_030773.4(TUBB1):c.405C>T (p.Ile135=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868000	NM_030773.4(TUBB1):c.953G>A (p.Arg318Gln)	TUBB1 (R318Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867684	NM_030773.4(TUBB1):c.17A>G (p.His6Arg)	TUBB1 (H6R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867400	NM_030773.4(TUBB1):c.277+20T>C	TUBB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866308	NM_030773.4(TUBB1):c.364C>T (p.His122Tyr)	TUBB1 (H122Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2865145	NM_030773.4(TUBB1):c.1290A>G (p.Ala430=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811550	NM_030773.4(TUBB1):c.1089G>A (p.Met363Ile)	TUBB1 (M363I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810179	NM_030773.4(TUBB1):c.3G>A (p.Met1Ile)	TUBB1 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2805404	NM_030773.4(TUBB1):c.840G>A (p.Gln280=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803267	NM_030773.4(TUBB1):c.942C>G (p.Ala314=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795574	NM_030773.4(TUBB1):c.372T>G (p.Ser124Arg)	TUBB1 (S124R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795075	NM_030773.4(TUBB1):c.845G>C (p.Arg282Pro)	TUBB1 (R282P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795020	NM_030773.4(TUBB1):c.166+2T>C	TUBB1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2792926	NM_030773.4(TUBB1):c.289G>A (p.Ala97Thr)	TUBB1 (A97T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788923	NM_030773.4(TUBB1):c.420C>T (p.Gly140=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780078	NM_030773.4(TUBB1):c.742G>A (p.Ala248Thr)	TUBB1 (A248T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779115	NM_030773.4(TUBB1):c.1008G>T (p.Arg336Ser)	TUBB1 (R336S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2778133	NM_030773.4(TUBB1):c.386G>A (p.Cys129Tyr)	TUBB1 (C129Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2777840	NM_030773.4(TUBB1):c.1029G>A (p.Glu343=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2777221	NM_030773.4(TUBB1):c.278-8G>C	TUBB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776247	NM_030773.4(TUBB1):c.662C>T (p.Thr221Ile)	TUBB1 (T221I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2775686	NM_030773.4(TUBB1):c.166+16C>A	TUBB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2767839	NM_030773.4(TUBB1):c.1261G>A (p.Glu421Lys)	TUBB1 (E421K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2758788	NM_030773.4(TUBB1):c.592G>A (p.Ala198Thr)	TUBB1 (A198T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2757374	NM_030773.4(TUBB1):c.42C>G (p.Asn14Lys)	TUBB1 (N14K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2753580	NM_030773.4(TUBB1):c.151T>C (p.Tyr51His)	TUBB1 (Y51H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2746908	NM_030773.4(TUBB1):c.1094C>T (p.Ala365Val)	TUBB1 (A365V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2744813	NM_030773.4(TUBB1):c.1065C>A (p.Asp355Glu)	TUBB1 (D355E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2728996	NM_030773.4(TUBB1):c.185G>A (p.Arg62Gln)	TUBB1 (R62Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2726516	NM_030773.4(TUBB1):c.262G>A (p.Asp88Asn)	TUBB1 (D88N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2725667	NM_030773.4(TUBB1):c.261C>T (p.Pro87=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2718447	NM_030773.4(TUBB1):c.1070C>T (p.Pro357Leu)	TUBB1 (P357L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716637	NM_030773.4(TUBB1):c.856G>A (p.Val286Met)	TUBB1 (V286M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2711880	NM_030773.4(TUBB1):c.621C>T (p.Leu207=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2692053	NM_030773.4(TUBB1):c.754A>G (p.Lys252Glu)	TUBB1 (K252E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652454	NM_030773.4(TUBB1):c.921T>C (p.Arg307=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652453	NM_030773.4(TUBB1):c.684A>G (p.Leu228=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652452	NM_030773.4(TUBB1):c.285_286del (p.Ala97fs)	TUBB1 (A97fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2634318	NM_030773.4(TUBB1):c.844C>T (p.Arg282Ter)	TUBB1 (R282*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2629031	NM_030773.4(TUBB1):c.49G>A (p.Gly17Arg)	TUBB1 (G17R)	Single nucleotide variant (missense variant)	TUBB1-related disorder	GUncertain significance
Select item 2581495	NM_030773.4(TUBB1):c.166+14G>C	TUBB1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 2572119	NM_030773.4(TUBB1):c.935C>G (p.Thr312Arg)	TUBB1 (T312R)	Single nucleotide variant (missense variant)	Macrothrombocytopenia, isolated, 1, autosomal dominant	GUncertain significance
Select item 2572105	NM_030773.4(TUBB1):c.671A>T (p.Asp224Val)	TUBB1 (D224V)	Single nucleotide variant (missense variant)	Macrothrombocytopenia, isolated, 1, autosomal dominant	GUncertain significance
Select item 2572100	NM_030773.4(TUBB1):c.5G>C (p.Arg2Pro)	TUBB1 (R2P)	Single nucleotide variant (missense variant)	Macrothrombocytopenia, isolated, 1, autosomal dominant	GUncertain significance
Select item 2443288	NM_030773.4(TUBB1):c.155A>T (p.Asn52Ile)	TUBB1 (N52I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2438434	NM_030773.4(TUBB1):c.32A>C (p.Gln11Pro)	TUBB1 (Q11P)	Single nucleotide variant (missense variant)	Macrothrombocytopenia, isolated, 1, autosomal dominant	GUncertain significance
Select item 2428260	NM_030773.4(TUBB1):c.165C>T (p.Tyr55=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2426941	NC_000020.10:g.(?_57594578)_(57599838_?)del	TUBB1	Deletion	not provided	GUncertain significance
Select item 2416555	NM_030773.4(TUBB1):c.738C>A (p.Leu246=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2375937	NM_030773.4(TUBB1):c.997G>A (p.Val333Met)	TUBB1 (V333M)	Single nucleotide variant (missense variant)	Macrothrombocytopenia, isolated, 1, autosomal dominant +2 more	GUncertain significance
Select item 2302644	NM_030773.4(TUBB1):c.1348G>A (p.Gly450Arg)	TUBB1 (G450R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293087	NM_030773.4(TUBB1):c.1316C>T (p.Thr439Met)	TUBB1 (T439M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2266511	NM_030773.4(TUBB1):c.106G>C (p.Asp36His)	TUBB1 (D36H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204908	NM_030773.4(TUBB1):c.883G>A (p.Asp295Asn)	TUBB1 (D295N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2177164	NM_030773.4(TUBB1):c.1163T>C (p.Met388Thr)	TUBB1 (M388T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2172018	NM_030773.4(TUBB1):c.420C>G (p.Gly140=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2171227	NM_030773.4(TUBB1):c.658C>T (p.Pro220Ser)	TUBB1 (P220S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170794	NM_030773.4(TUBB1):c.906C>T (p.Ala302=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2149620	NM_030773.4(TUBB1):c.340G>A (p.Glu114Lys)	TUBB1 (E114K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2141356	NM_030773.4(TUBB1):c.152A>T (p.Tyr51Phe)	TUBB1 (Y51F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2138365	NM_030773.4(TUBB1):c.184C>T (p.Arg62Ter)	TUBB1 (R62*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2138364	NM_030773.4(TUBB1):c.128_129delinsCC (p.Gln43Pro)	TUBB1 (Q43P)	Indel (missense variant)	not provided	GBenign
Select item 2136722	NM_030773.4(TUBB1):c.917G>A (p.Arg306His)	TUBB1 (R306H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2134585	NM_030773.4(TUBB1):c.355G>C (p.Val119Leu)	TUBB1 (V119L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133081	NM_030773.4(TUBB1):c.555G>C (p.Ala185=)	TUBB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2131249	NM_030773.4(TUBB1):c.968C>T (p.Thr323Ile)	TUBB1 (T323I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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