7846[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 309110	NM_006009.4(TUBA1A):c.*211A>G	TUBA1A	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 422892	NM_006009.4(TUBA1A):c.*1del (p.Ter452=)	TUBA1A	Deletion (no sequence alteration)	not provided +1 more	GLikely benign
Select item 1561411	NM_006009.4(TUBA1A):c.1347G>A (p.Glu449=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 625473	NM_006009.4(TUBA1A):c.1341del (p.Gly448fs)	TUBA1A (G413fs +1 more)	Deletion (frameshift variant)	Tubulinopathy	GLikely pathogenic
Select item 793449	NM_006009.4(TUBA1A):c.1329G>A (p.Glu443=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 625512	NM_006009.4(TUBA1A):c.1307G>A (p.Gly436Asp)	TUBA1A (G436D +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +1 more	GPathogenic/Likely pathogenic
Select item 625497	NM_006009.4(TUBA1A):c.1306G>C (p.Gly436Arg)	TUBA1A (G436R +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy	GPathogenic
Select item 437120	NM_006009.4(TUBA1A):c.1304T>C (p.Val435Ala)	TUBA1A (V435A +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +1 more	GLikely pathogenic
Select item 437119	NM_006009.4(TUBA1A):c.1298AGG[1] (p.Glu434del)	TUBA1A (E434del +1 more)	Microsatellite (inframe_deletion)	not specified +1 more	GUncertain significance
Select item 1065497	NM_006009.4(TUBA1A):c.1288_1302del (p.Lys430_Glu434del)	TUBA1A	Deletion (inframe_deletion)	Lissencephaly due to TUBA1A mutation	GPathogenic
Select item 623807	NM_006009.4(TUBA1A):c.1291G>A (p.Asp431Asn)	TUBA1A (D431N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 625488	NM_006009.4(TUBA1A):c.1285G>C (p.Glu429Gln)	TUBA1A (E429Q +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy	GPathogenic
Select item 2094235	NM_006009.4(TUBA1A):c.1283T>A (p.Leu428His)	TUBA1A (L393H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993680	NM_006009.4(TUBA1A):c.1276G>A (p.Ala426Thr)	TUBA1A (A426T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 160148	NM_006009.4(TUBA1A):c.1274T>A (p.Met425Lys)	TUBA1A (M425K +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +1 more	GPathogenic/Likely pathogenic
Select item 2498154	NM_006009.4(TUBA1A):c.1268A>G (p.Glu423Gly)	TUBA1A (E388G +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation	GLikely pathogenic
Select item 1290545	NM_006009.4(TUBA1A):c.1266T>G (p.Arg422=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 7077	NM_006009.4(TUBA1A):c.1265G>A (p.Arg422His)	TUBA1A (R422H +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +2 more	GPathogenic
Select item 1330377	NM_006009.4(TUBA1A):c.1264C>A (p.Arg422Ser)	TUBA1A (R387S +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy-associated dysgyria	GPathogenic
Select item 7076	NM_006009.4(TUBA1A):c.1264C>T (p.Arg422Cys)	TUBA1A (R422C +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +3 more	GPathogenic
Select item 1575084	NM_006009.4(TUBA1A):c.1263C>T (p.Ala421=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 802856	NM_006009.4(TUBA1A):c.1261G>A (p.Ala421Thr)	TUBA1A (A386T +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation	GLikely pathogenic
Select item 384472	NM_006009.4(TUBA1A):c.1257A>G (p.Ser419=)	TUBA1A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 7074	NM_006009.4(TUBA1A):c.1256C>T (p.Ser419Leu)	TUBA1A (S419L +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +2 more	GPathogenic/Likely pathogenic
Select item 212489	NM_006009.4(TUBA1A):c.1248T>C (p.Gly416=)	TUBA1A	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 591001	NM_006009.4(TUBA1A):c.1247G>A (p.Gly416Asp)	TUBA1A (G416D +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation	GUncertain significance
Select item 384538	NM_006009.4(TUBA1A):c.1246G>A (p.Gly416Ser)	TUBA1A (G416S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1067341	NM_006009.4(TUBA1A):c.1239G>A (p.Met413Ile)	TUBA1A (M378I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1378050	NM_006009.4(TUBA1A):c.1237A>T (p.Met413Leu)	TUBA1A (M378L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620053	NM_006009.4(TUBA1A):c.1232A>G (p.Glu411Gly)	TUBA1A (E411G +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation	GUncertain significance
Select item 586915	NM_006009.4(TUBA1A):c.1230G>C (p.Gly410=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 379050	NM_006009.4(TUBA1A):c.1230G>T (p.Gly410=)	TUBA1A	Single nucleotide variant (synonymous variant)	TUBA1A-related disorder +2 more	GLikely benign
Select item 378996	NM_006009.4(TUBA1A):c.1227T>G (p.Val409=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 208490	NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala)	TUBA1A (V409A +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +2 more	GPathogenic/Likely pathogenic
Select item 3063674	NM_006009.4(TUBA1A):c.1225G>T (p.Val409Phe)	TUBA1A (V374F +1 more)	Single nucleotide variant (missense variant)	Lissencephaly type 3	GPathogenic
Select item 625504	NM_006009.4(TUBA1A):c.1225G>A (p.Val409Ile)	TUBA1A (V409I +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation +2 more	GConflicting classifications of pathogenicity
Select item 1908546	NM_006009.4(TUBA1A):c.1224C>T (p.Tyr408=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 209200	NM_006009.4(TUBA1A):c.1224C>A (p.Tyr408Ter)	TUBA1A (Y408* +1 more)	Single nucleotide variant (nonsense)	Lissencephaly due to TUBA1A mutation +1 more	GConflicting classifications of pathogenicity
Select item 1344803	NM_006009.4(TUBA1A):c.1222T>G (p.Tyr408Asp)	TUBA1A (Y373D +1 more)	Single nucleotide variant (missense variant)	Recurrent hand flapping	GUncertain significance
Select item 1686683	NM_006009.4(TUBA1A):c.1216C>T (p.His406Tyr)	TUBA1A (H371Y +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 988578	NM_006009.4(TUBA1A):c.1216C>G (p.His406Asp)	TUBA1A (H371D +1 more)	Single nucleotide variant (missense variant)	Congenital fibrosis of extraocular muscles +1 more	GPathogenic
Select item 160147	NM_006009.4(TUBA1A):c.1205G>T (p.Arg402Leu)	TUBA1A (R402L +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +1 more	GPathogenic
Select item 7071	NM_006009.4(TUBA1A):c.1205G>A (p.Arg402His)	TUBA1A (R402H +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy-associated dysgyria +3 more	GPathogenic
Select item 2630903	NM_006009.4(TUBA1A):c.1204C>G (p.Arg402Gly)	TUBA1A (R367G +1 more)	Single nucleotide variant (missense variant)	TUBA1A-related disorder	GUncertain significance
Select item 160146	NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys)	TUBA1A (R402C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 160145	NM_006009.4(TUBA1A):c.1204C>A (p.Arg402Ser)	TUBA1A (R402S +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +1 more	GLikely pathogenic
Select item 160144	NM_006009.4(TUBA1A):c.1203A>G (p.Lys401=)	TUBA1A	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 988580	NM_006009.4(TUBA1A):c.1193T>G (p.Met398Arg)	TUBA1A (M363R +1 more)	Single nucleotide variant (missense variant)	Congenital fibrosis of extraocular muscles +2 more	GConflicting classifications of pathogenicity
Select item 7075	NM_006009.4(TUBA1A):c.1190T>C (p.Leu397Pro)	TUBA1A (L397P +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation +1 more	GPathogenic
Select item 625505	NM_006009.4(TUBA1A):c.1186G>T (p.Asp396Tyr)	TUBA1A (D396Y +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy	GPathogenic
Select item 864867	NM_006009.4(TUBA1A):c.1182G>C (p.Lys394Asn)	TUBA1A (K359N +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation	GUncertain significance
Select item 1211836	NM_006009.4(TUBA1A):c.1181A>G (p.Lys394Arg)	TUBA1A (K359R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 438298	NM_006009.4(TUBA1A):c.1177C>T (p.His393Tyr)	TUBA1A (H393Y +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy	GPathogenic
Select item 488628	NM_006009.4(TUBA1A):c.1169G>A (p.Arg390His)	TUBA1A (R390H +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation +2 more	GPathogenic
Select item 423490	NM_006009.4(TUBA1A):c.1169G>C (p.Arg390Pro)	TUBA1A (R390P +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation +2 more	GPathogenic/Likely pathogenic
Select item 450183	NM_006009.4(TUBA1A):c.1168C>G (p.Arg390Gly)	TUBA1A (R390G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 418531	NM_006009.4(TUBA1A):c.1168C>T (p.Arg390Cys)	TUBA1A (R390C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2918665	NM_006009.4(TUBA1A):c.1167T>C (p.Ala389=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 625502	NM_006009.4(TUBA1A):c.1160C>T (p.Ala387Val)	TUBA1A (A387V +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy	GPathogenic
Select item 1028470	NM_006009.4(TUBA1A):c.1156G>A (p.Glu386Lys)	TUBA1A (E386K +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation	GLikely pathogenic
Select item 1718601	NM_006009.4(TUBA1A):c.1154C>T (p.Ala385Val)	TUBA1A (A350V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 585140	NM_006009.4(TUBA1A):c.1151T>A (p.Ile384Asn)	TUBA1A (I384N +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation	Gnot provided
Select item 427202	NM_006009.4(TUBA1A):c.1148C>A (p.Ala383Asp)	TUBA1A (A383D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 160143	NM_006009.4(TUBA1A):c.1148C>T (p.Ala383Val)	TUBA1A (A383V +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +1 more	GPathogenic/Likely pathogenic
Select item 437121	NM_006009.4(TUBA1A):c.1144A>G (p.Thr382Ala)	TUBA1A (T382A +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +1 more	GLikely pathogenic
Select item 3061839	NM_006009.4(TUBA1A):c.1136G>A (p.Ser379Asn)	TUBA1A (S344N +1 more)	Single nucleotide variant (missense variant)	Lissencephaly type 3	GUncertain significance
Select item 160142	NM_006009.4(TUBA1A):c.1129A>G (p.Met377Val)	TUBA1A (M377V +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +1 more	GLikely pathogenic
Select item 1174776	NM_006009.4(TUBA1A):c.1127G>A (p.Cys376Tyr)	TUBA1A (C341Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1028469	NM_006009.4(TUBA1A):c.1117A>G (p.Arg373Gly)	TUBA1A (R338G +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation	GUncertain significance
Select item 625514	NM_006009.4(TUBA1A):c.1112T>A (p.Val371Glu)	TUBA1A (V371E +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy	GPathogenic
Select item 212488	NM_006009.4(TUBA1A):c.1105G>A (p.Ala369Thr)	TUBA1A (A369T +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation +2 more	GPathogenic/Likely pathogenic
Select item 449342	NM_006009.4(TUBA1A):c.1096G>A (p.Gly366Arg)	TUBA1A (G366R +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +1 more	GPathogenic/Likely pathogenic
Select item 429374	NM_006009.4(TUBA1A):c.1091C>G (p.Pro364Arg)	TUBA1A (P364R +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +1 more	GLikely pathogenic
Select item 978812	NM_006009.4(TUBA1A):c.1084G>C (p.Val362Leu)	TUBA1A (V327L +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation	GLikely pathogenic
Select item 520901	NM_006009.4(TUBA1A):c.1082C>T (p.Thr361Ile)	TUBA1A (T361I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2000488	NM_006009.4(TUBA1A):c.1081A>G (p.Thr361Ala)	TUBA1A (T361A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676935	NM_006009.4(TUBA1A):c.1078C>T (p.Pro360Ser)	TUBA1A (P325S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426640	NM_006009.4(TUBA1A):c.1076C>T (p.Pro359Leu)	TUBA1A (P359L +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +1 more	GPathogenic/Likely pathogenic
Select item 1629935	NM_006009.4(TUBA1A):c.1071C>T (p.Tyr357=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3236676	NM_006009.4(TUBA1A):c.1070A>G (p.Tyr357Cys)	TUBA1A (Y322C +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation	GUncertain significance
Select item 2663351	NM_006009.4(TUBA1A):c.1063A>G (p.Ile355Val)	TUBA1A (I320V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 625479	NM_006009.4(TUBA1A):c.1057G>A (p.Val353Ile)	TUBA1A (V353I +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy	GLikely pathogenic
Select item 2412886	NM_006009.4(TUBA1A):c.1056G>C (p.Lys352Asn)	TUBA1A (K317N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 521592	NM_006009.4(TUBA1A):c.1055A>T (p.Lys352Met)	TUBA1A (K352M +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +1 more	GLikely pathogenic
Select item 873446	NM_006009.4(TUBA1A):c.1049G>T (p.Gly350Val)	TUBA1A (G350V +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy-associated dysgyria +1 more	GPathogenic/Likely pathogenic
Select item 381030	NM_006009.4(TUBA1A):c.1044C>T (p.Pro348=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2893780	NM_006009.4(TUBA1A):c.1035T>C (p.Asp345=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 449112	NM_006009.4(TUBA1A):c.1025A>C (p.Gln342Pro)	TUBA1A (Q342P +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +1 more	GLikely pathogenic
Select item 2414208	NM_006009.4(TUBA1A):c.1023C>T (p.Ile341=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636987	NM_006009.4(TUBA1A):c.1013A>T (p.Lys338Met)	TUBA1A (K303M +1 more)	Single nucleotide variant (missense variant)	TUBA1A-related disorder	GLikely pathogenic
Select item 160141	NM_006009.4(TUBA1A):c.1008G>A (p.Lys336=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 625476	NM_006009.4(TUBA1A):c.998C>T (p.Ala333Val)	TUBA1A (A333V +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy	GPathogenic
Select item 160169	NM_006009.4(TUBA1A):c.995T>C (p.Ile332Thr)	TUBA1A (I332T +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +1 more	GLikely pathogenic
Select item 160168	NM_006009.4(TUBA1A):c.991G>A (p.Ala331Thr)	TUBA1A (A331T +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation	GUncertain significance
Select item 160167	NM_006009.4(TUBA1A):c.986A>G (p.Asn329Ser)	TUBA1A (N329S +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +1 more	GPathogenic
Select item 2005489	NM_006009.4(TUBA1A):c.983_984delinsAA (p.Val328Glu)	TUBA1A (V293E +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 625487	NM_006009.4(TUBA1A):c.978A>C (p.Lys326Asn)	TUBA1A (K326N +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy	GPathogenic
Select item 212494	NM_006009.4(TUBA1A):c.970G>C (p.Val324Leu)	TUBA1A (V324L +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation +1 more	GLikely pathogenic
Select item 1206718	NM_006009.4(TUBA1A):c.967G>A (p.Val323Met)	TUBA1A (V288M +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy-associated dysgyria +1 more	GConflicting classifications of pathogenicity

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