ClinVar for Gene (Select 7283) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369306	NM_001070.5(TUBG1):c.968T>A (p.Ile323Asn)	TUBG1 (I323N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365303	NM_001070.5(TUBG1):c.800A>G (p.His267Arg)	TUBG1 (H267R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365198	NM_001070.5(TUBG1):c.480G>T (p.Arg160Ser)	TUBG1 (R160S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360369	NM_001070.5(TUBG1):c.370C>T (p.Arg124Trp)	TUBG1 (R124W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358360	NM_001070.5(TUBG1):c.510_511del (p.Phe172fs)	TUBG1 (F172fs)	Deletion (frameshift variant)	TUBG1-related disorder	GUncertain significance
Select item 3354609	NM_001070.5(TUBG1):c.949T>C (p.Tyr317His)	TUBG1 (Y317H)	Single nucleotide variant (missense variant)	TUBG1-related disorder	GUncertain significance
Select item 3345768	NM_001070.5(TUBG1):c.1148G>T (p.Ser383Ile)	TUBG1 (S383I)	Single nucleotide variant (missense variant)	TUBG1-related disorder	GUncertain significance
Select item 3339949	NM_001070.5(TUBG1):c.694-10C>T	TUBG1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3338057	NM_001070.5(TUBG1):c.664A>C (p.Asn222His)	RETREG3, TUBG1 (N222H)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 4	GLikely pathogenic
Select item 3330224	NM_001070.5(TUBG1):c.41G>A (p.Gly14Asp)	TUBG1 (G14D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330223	NM_001070.5(TUBG1):c.1281T>G (p.Ile427Met)	TUBG1 (I427M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3243133	NC_000017.10:g.(?_40762106)_(40767059_?)dup	TUBG1	Duplication	not provided	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3236666	NM_001070.5(TUBG1):c.202G>T (p.Asp68Tyr)	TUBG1 (D68Y)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 4	GLikely pathogenic
Select item 3236665	NM_001070.5(TUBG1):c.1131G>T (p.Met377Ile)	TUBG1 (M377I)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 4	GUncertain significance
Select item 3184779	NM_001070.5(TUBG1):c.1115G>A (p.Arg372Gln)	TUBG1 (R372Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053507	NM_001070.5(TUBG1):c.150C>T (p.Val50=)	TUBG1	Single nucleotide variant (synonymous variant)	TUBG1-related disorder	GLikely benign
Select item 3048983	NM_001070.5(TUBG1):c.264A>G (p.Pro88=)	TUBG1	Single nucleotide variant (synonymous variant)	TUBG1-related disorder	GLikely benign
Select item 3030876	NM_001070.5(TUBG1):c.183C>A (p.Ile61=)	TUBG1	Single nucleotide variant (synonymous variant)	TUBG1-related disorder	GLikely benign
Select item 3030533	NM_001070.5(TUBG1):c.252G>A (p.Lys84=)	TUBG1	Single nucleotide variant (synonymous variant)	TUBG1-related disorder	GLikely benign
Select item 3023309	NM_001070.5(TUBG1):c.843+12C>T	TUBG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3019171	NM_001070.5(TUBG1):c.694-3C>T	TUBG1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2993257	NM_001070.5(TUBG1):c.699T>C (p.Ser233=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983684	NM_001070.5(TUBG1):c.270C>T (p.Asn90=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970278	NM_001070.5(TUBG1):c.1122C>T (p.Ser374=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961445	NM_001070.5(TUBG1):c.480-11A>G	TUBG1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2960936	NM_001070.5(TUBG1):c.331-12A>G	TUBG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905476	NM_001070.5(TUBG1):c.633C>T (p.Asn211=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904186	NM_001070.5(TUBG1):c.807C>T (p.Leu269=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895876	NM_001070.5(TUBG1):c.117G>A (p.Glu39=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894168	NM_001070.5(TUBG1):c.1099C>T (p.Leu367=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820636	NM_001070.5(TUBG1):c.50-2A>T	TUBG1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2807548	NM_001070.5(TUBG1):c.163-16G>T	TUBG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798455	NM_001070.5(TUBG1):c.799C>T (p.His267Tyr)	TUBG1 (H267Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786282	NM_001070.5(TUBG1):c.607-8C>T	TUBG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2690399	NM_001070.5(TUBG1):c.1136C>G (p.Ala379Gly)	TUBG1 (A379G)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 4	GUncertain significance
Select item 2647794	NM_001070.5(TUBG1):c.900C>A (p.Pro300=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647793	NM_001070.5(TUBG1):c.468G>A (p.Arg156=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2577692	NM_001070.5(TUBG1):c.53G>A (p.Gly18Glu)	TUBG1 (G18E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571995	NM_001070.5(TUBG1):c.757C>T (p.Leu253Phe)	TUBG1 (L253F)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 4 +1 more	GUncertain significance
Select item 2438439	NM_001070.5(TUBG1):c.1157C>T (p.Ser386Leu)	TUBG1 (S386L)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 4	GUncertain significance
Select item 2438438	NM_001070.5(TUBG1):c.459C>T (p.Leu153=)	TUBG1	Single nucleotide variant (synonymous variant)	Complex cortical dysplasia with other brain malformations 4	GUncertain significance
Select item 2430135	NM_001070.5(TUBG1):c.421A>C (p.Ile141Leu)	TUBG1 (I141L)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 4	GLikely pathogenic
Select item 2420210	NM_001070.5(TUBG1):c.1310C>T (p.Ala437Val)	TUBG1 (A437V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418113	NM_001070.5(TUBG1):c.825T>G (p.Pro275=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2414670	NM_001070.5(TUBG1):c.1017G>A (p.Arg339=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2269067	NM_001070.5(TUBG1):c.29T>A (p.Leu10Ter)	TUBG1 (L10*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 2251604	NM_001070.5(TUBG1):c.50-6C>T	TUBG1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2191957	NM_001070.5(TUBG1):c.694-5C>G	TUBG1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2182179	NM_001070.5(TUBG1):c.797T>C (p.Leu266Pro)	TUBG1 (L266P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175131	NM_001070.5(TUBG1):c.1248C>T (p.Asp416=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2165529	NM_001070.5(TUBG1):c.1083G>A (p.Ser361=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2160772	NM_001070.5(TUBG1):c.228C>T (p.Ser76=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2123540	NM_001070.5(TUBG1):c.513G>A (p.Val171=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2117309	NM_001070.5(TUBG1):c.997-18C>T	TUBG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2116658	NM_001070.5(TUBG1):c.1170A>G (p.Arg390=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2100563	NM_001070.5(TUBG1):c.163-11C>T	TUBG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2030967	NM_001070.5(TUBG1):c.399+15A>C	TUBG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2029682	NM_001070.5(TUBG1):c.705C>T (p.Ile235=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2026933	NM_001070.5(TUBG1):c.498G>A (p.Val166=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2022552	NM_001070.5(TUBG1):c.49+3G>A	TUBG1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2016753	NM_001070.5(TUBG1):c.349G>T (p.Asp117Tyr)	TUBG1 (D117Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2012594	NM_001070.5(TUBG1):c.49+14C>T	TUBG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1964701	NM_001070.5(TUBG1):c.50-19G>A	TUBG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1963236	NM_001070.5(TUBG1):c.330+17T>C	TUBG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1962991	NM_001070.5(TUBG1):c.570C>T (p.Leu190=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1957239	NM_001070.5(TUBG1):c.1290G>A (p.Gln430=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1956453	NM_001070.5(TUBG1):c.193_194inv (p.Val65Thr)	TUBG1 (V65T)	Inversion (missense variant)	not provided	GUncertain significance
Select item 1956293	NM_001070.5(TUBG1):c.843+20T>C	TUBG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1926215	NM_001070.5(TUBG1):c.997-13A>G	TUBG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1924707	NM_001070.5(TUBG1):c.607-3C>T	TUBG1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1921313	NM_001070.5(TUBG1):c.480-6_480-5inv	TUBG1	Inversion (intron variant)	not provided	GUncertain significance
Select item 1918575	NM_001070.5(TUBG1):c.1296C>T (p.Ile432=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1917113	NM_001070.5(TUBG1):c.318C>T (p.Ser106=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1916436	NM_001070.5(TUBG1):c.162+20del	TUBG1	Deletion (intron variant)	not provided	GLikely benign
Select item 1916205	NM_001070.5(TUBG1):c.607-7C>T	TUBG1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1915420	NM_001070.5(TUBG1):c.50-3C>A	TUBG1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1913895	NM_001070.5(TUBG1):c.242C>T (p.Pro81Leu)	TUBG1 (P81L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1909640	NM_001070.5(TUBG1):c.400-8C>T	TUBG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1903776	NM_001070.5(TUBG1):c.49+18C>G	TUBG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1895962	NM_001070.5(TUBG1):c.49+20C>T	TUBG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1801961	NM_001070.5(TUBG1):c.479+1G>A	TUBG1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1704707	NM_001070.5(TUBG1):c.281C>G (p.Ser94Trp)	TUBG1 (S94W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703182	NM_001070.5(TUBG1):c.725C>T (p.Thr242Ile)	TUBG1 (T242I)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 4	GLikely pathogenic
Select item 1695723	NM_001070.5(TUBG1):c.50-3C>G	TUBG1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1634177	NM_001070.5(TUBG1):c.1056C>A (p.Gly352=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1617569	NM_001070.5(TUBG1):c.267G>A (p.Glu89=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1579765	NM_001070.5(TUBG1):c.694-12G>T	TUBG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1531213	NM_001070.5(TUBG1):c.607-18C>G	TUBG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1526152	NM_001070.5(TUBG1):c.821C>A (p.Thr274Asn)	TUBG1 (T274N)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 4	GLikely pathogenic
Select item 1336361	NM_001070.5(TUBG1):c.466C>T (p.Arg156Trp)	TUBG1 (R156W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1336311	NM_001070.5(TUBG1):c.1074G>A (p.Val358=)	TUBG1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1336278	NM_001070.5(TUBG1):c.1009T>C (p.Leu337=)	TUBG1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1336150	NM_001070.5(TUBG1):c.1159-4C>T	TUBG1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1313035	NM_001070.5(TUBG1):c.907G>A (p.Val303Met)	TUBG1 (V303M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309602	NM_001070.5(TUBG1):c.671C>T (p.Ser224Phe)	TUBG1 (S224F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305415	NM_001070.5(TUBG1):c.480-9C>G	TUBG1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1304907	NM_001070.5(TUBG1):c.996+42G>T	TUBG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1304893	NC_000017.11:g.42609299G>A	LOC130060913, RETREG3 +1 more (T9M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1300284	NM_001070.5(TUBG1):c.693+45G>A	TUBG1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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