12417[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 1290158	NC_000017.11:g.42609109G>A	RETREG3, TUBG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1263791	NC_000017.11:g.42609235C>T	RETREG3, TUBG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1291801	NC_000017.11:g.42609261G>A	LOC130060913, RETREG3 +1 more (R22C)	Single nucleotide variant (missense variant +1 more)	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 1296635	NC_000017.11:g.42609333G>C	LOC130060913, RETREG3 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 672681	NM_001070.4(TUBG1):c.-403C>A	LOC130060913, RETREG3 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1220105	NC_000017.11:g.42609350G>A	LOC130060913, RETREG3 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1189783	NC_000017.11:g.42609362G>A	LOC130060913, RETREG3 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1219668	NC_000017.11:g.42609515_42609533del	TUBG1	Deletion (genic upstream transcript variant)	not provided	GLikely benign
Select item 1282940	NC_000017.11:g.42609530C>G	TUBG1	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1295606	NC_000017.11:g.42609610A>G	TUBG1	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1204709	NC_000017.11:g.42609680G>T	TUBG1	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 384501	NM_001070.5(TUBG1):c.-49C>A	TUBG1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 510038	NM_001070.5(TUBG1):c.-16C>T	TUBG1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1222179	NM_001070.5(TUBG1):c.-6G>A	TUBG1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 425131	NM_001070.5(TUBG1):c.-5G>A	TUBG1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 739201	NM_001070.5(TUBG1):c.6G>A (p.Pro2=)	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 3330224	NM_001070.5(TUBG1):c.41G>A (p.Gly14Asp)	TUBG1 (G14D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2022552	NM_001070.5(TUBG1):c.49+3G>A	TUBG1	Single nucleotide variant (intron 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 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 1964701	NM_001070.5(TUBG1):c.50-19G>A	TUBG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193144	NM_001070.5(TUBG1):c.50-15G>T	TUBG1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2251604	NM_001070.5(TUBG1):c.50-6C>T	TUBG1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1915420	NM_001070.5(TUBG1):c.50-3C>A	TUBG1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1695723	NM_001070.5(TUBG1):c.50-3C>G	TUBG1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2820636	NM_001070.5(TUBG1):c.50-2A>T	TUBG1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
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 2895876	NM_001070.5(TUBG1):c.117G>A (p.Glu39=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744223	NM_001070.5(TUBG1):c.126C>T (p.Thr42=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1916436	NM_001070.5(TUBG1):c.162+20del	TUBG1	Deletion (intron variant)	not provided	GLikely benign
Select item 514405	NM_001070.5(TUBG1):c.162+19C>T	TUBG1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2807548	NM_001070.5(TUBG1):c.163-16G>T	TUBG1	Single nucleotide variant (intron 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 3030876	NM_001070.5(TUBG1):c.183C>A (p.Ile61=)	TUBG1	Single nucleotide variant (synonymous variant)	TUBG1-related disorder	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 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 2160772	NM_001070.5(TUBG1):c.228C>T (p.Ser76=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3030533	NM_001070.5(TUBG1):c.252G>A (p.Lys84=)	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 1617569	NM_001070.5(TUBG1):c.267G>A (p.Glu89=)	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 65398	NM_001070.5(TUBG1):c.275A>G (p.Tyr92Cys)	TUBG1 (Y92C)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 4	GLikely pathogenic
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 1917113	NM_001070.5(TUBG1):c.318C>T (p.Ser106=)	TUBG1	Single nucleotide variant (synonymous 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 676974	NM_001070.5(TUBG1):c.330+115C>G	TUBG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298130	NM_001070.5(TUBG1):c.331-237AG[3]	TUBG1	Microsatellite (intron variant)	not provided	GBenign
Select item 2960936	NM_001070.5(TUBG1):c.331-12A>G	TUBG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2030967	NM_001070.5(TUBG1):c.399+15A>C	TUBG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676975	NM_001070.5(TUBG1):c.399+34A>G	TUBG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674438	NM_001070.5(TUBG1):c.400-36A>G	TUBG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1909640	NM_001070.5(TUBG1):c.400-8C>T	TUBG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 515431	NM_001070.5(TUBG1):c.400-6A>G	TUBG1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
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 730272	NM_001070.5(TUBG1):c.453C>T (p.Ser151=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 735569	NM_001070.5(TUBG1):c.460T>C (p.Leu154=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2647793	NM_001070.5(TUBG1):c.468G>A (p.Arg156=)	TUBG1	Single nucleotide variant (synonymous 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 445761	NM_001070.5(TUBG1):c.479+18G>T	TUBG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270960	NM_001070.5(TUBG1):c.480-33T>G	TUBG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2961445	NM_001070.5(TUBG1):c.480-11A>G	TUBG1	Single nucleotide variant (intron 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 1921313	NM_001070.5(TUBG1):c.480-6_480-5inv	TUBG1	Inversion (intron variant)	not provided	GUncertain significance
Select item 681765	NM_001070.5(TUBG1):c.480-6C>T	TUBG1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
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 2026933	NM_001070.5(TUBG1):c.498G>A (p.Val166=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3358360	NM_001070.5(TUBG1):c.510_511del (p.Phe172fs)	TUBG1 (F172fs)	Deletion (frameshift variant)	TUBG1-related disorder	GUncertain significance
Select item 2123540	NM_001070.5(TUBG1):c.513G>A (p.Val171=)	TUBG1	Single nucleotide variant (synonymous 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 1531213	NM_001070.5(TUBG1):c.607-18C>G	TUBG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786282	NM_001070.5(TUBG1):c.607-8C>T	TUBG1	Single nucleotide variant (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 742752	NM_001070.5(TUBG1):c.607-4C>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 813950	NM_001070.5(TUBG1):c.618C>G (p.Asp206Glu)	TUBG1 (D206E)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 4	GUncertain significance
Select item 2905476	NM_001070.5(TUBG1):c.633C>T (p.Asn211=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 387421	NM_001070.5(TUBG1):c.654G>A (p.Leu218=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 722629	NM_001070.5(TUBG1):c.669A>G (p.Pro223=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1300284	NM_001070.5(TUBG1):c.693+45G>A	TUBG1	Single nucleotide variant (intron 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 511933	NM_001070.5(TUBG1):c.694-12G>A	TUBG1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3339949	NM_001070.5(TUBG1):c.694-10C>T	TUBG1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2191957	NM_001070.5(TUBG1):c.694-5C>G	TUBG1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2029682	NM_001070.5(TUBG1):c.705C>T (p.Ile235=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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

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