"GeneDx"[submitter] AND "TUBG1"[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	RETREG3, TUBG1 +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 1193144	NM_001070.5(TUBG1):c.50-15G>T	TUBG1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1695723	NM_001070.5(TUBG1):c.50-3C>G	TUBG1	Single nucleotide variant (intron 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 514405	NM_001070.5(TUBG1):c.162+19C>T	TUBG1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
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 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 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 515431	NM_001070.5(TUBG1):c.400-6A>G	TUBG1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 735569	NM_001070.5(TUBG1):c.460T>C (p.Leu154=)	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 1270960	NM_001070.5(TUBG1):c.480-33T>G	TUBG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1305415	NM_001070.5(TUBG1):c.480-9C>G	TUBG1	Single nucleotide variant (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 742752	NM_001070.5(TUBG1):c.607-4C>G	TUBG1	Single nucleotide variant (intron 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 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 511933	NM_001070.5(TUBG1):c.694-12G>A	TUBG1	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 515392	NM_001070.5(TUBG1):c.771C>T (p.Ile257=)	TUBG1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 782914	NM_001070.5(TUBG1):c.813C>T (p.Thr271=)	TUBG1	Single nucleotide variant (synonymous variant)	Complex cortical dysplasia with other brain malformations 4 +1 more	GBenign/Likely benign
Select item 392052	NM_001070.5(TUBG1):c.821C>T (p.Thr274Ile)	TUBG1 (T274I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3377859	NM_001070.5(TUBG1):c.833C>T (p.Thr278Met)	TUBG1 (T278M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1211831	NM_001070.5(TUBG1):c.843+33C>T	TUBG1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 388836	NM_001070.5(TUBG1):c.844-19T>C	TUBG1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 735660	NM_001070.5(TUBG1):c.844-7C>G	TUBG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 515393	NM_001070.5(TUBG1):c.906C>T (p.Asn302=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 3369306	NM_001070.5(TUBG1):c.968T>A (p.Ile323Asn)	TUBG1 (I323N)	Single nucleotide variant (missense 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 373145	NM_001070.5(TUBG1):c.1021C>T (p.Arg341Trp)	TUBG1 (R341W)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 4 +1 more	GPathogenic/Likely pathogenic
Select item 452987	NM_001070.5(TUBG1):c.1022G>A (p.Arg341Gln)	TUBG1 (R341Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 380875	NM_001070.5(TUBG1):c.1029C>G (p.Arg343=)	TUBG1	Single nucleotide variant (synonymous variant)	Complex cortical dysplasia with other brain malformations 4 +2 more	GBenign
Select item 506685	NM_001070.5(TUBG1):c.1107G>A (p.Ser369=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1259271	NM_001070.5(TUBG1):c.1146C>G (p.Thr382=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1239188	NM_001070.5(TUBG1):c.1158+21C>G	TUBG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260939	NM_001070.5(TUBG1):c.1158+41T>C	TUBG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 385686	NM_001070.5(TUBG1):c.1275G>A (p.Arg425=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 512623	NM_001070.5(TUBG1):c.1311G>A (p.Ala437=)	TUBG1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 389498	NM_001070.5(TUBG1):c.1318C>T (p.Arg440Trp)	TUBG1 (R440W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1199698	NC_000017.11:g.42615278G>A	TUBG1	Single nucleotide variant	not provided	GLikely benign
Select item 1201671	NC_000017.11:g.42615284G>T	TUBG1	Single nucleotide variant	not provided	GLikely benign
Select item 253685	GRCh37/hg19 17q21.2(chr17:40764524-40775621)x3	TUBG1	Copy number gain	See cases	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

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Items: 64