"GeneDx"[submitter] AND "TUBA1A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 7076	NM_006009.4(TUBA1A):c.1264C>T (p.Arg422Cys)	TUBA1A (R422C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 384472	NM_006009.4(TUBA1A):c.1257A>G (p.Ser419=)	TUBA1A	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 384538	NM_006009.4(TUBA1A):c.1246G>A (p.Gly416Ser)	TUBA1A (G416S +1 more)	Single nucleotide variant (missense variant)	TUBA1A-associated tubulinopathy +2 more	GPathogenic/Likely pathogenic
Select item 379050	NM_006009.4(TUBA1A):c.1230G>T (p.Gly410=)	TUBA1A	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 378996	NM_006009.4(TUBA1A):c.1227T>G (p.Val409=)	TUBA1A	Single nucleotide variant (synonymous variant)	not specified +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)	Lissencephaly due to TUBA1A mutation +2 more	GPathogenic/Likely pathogenic
Select item 625504	NM_006009.4(TUBA1A):c.1225G>A (p.Val409Ile)	TUBA1A (V409I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 3342797	NM_006009.4(TUBA1A):c.1207_1214del (p.Ala403fs)	TUBA1A (A368fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
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 160146	NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys)	TUBA1A (R402C +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation +3 more	GPathogenic/Likely pathogenic
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 488628	NM_006009.4(TUBA1A):c.1169G>A (p.Arg390His)	TUBA1A (R390H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 423490	NM_006009.4(TUBA1A):c.1169G>C (p.Arg390Pro)	TUBA1A (R390P +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +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)	Tubulinopathy +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)	Tubulinopathy +2 more	GPathogenic/Likely pathogenic
Select item 427202	NM_006009.4(TUBA1A):c.1148C>A (p.Ala383Asp)	TUBA1A (A383D +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +1 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)	not provided +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 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 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 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 381030	NM_006009.4(TUBA1A):c.1044C>T (p.Pro348=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely 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 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 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
Select item 160165	NM_006009.4(TUBA1A):c.966C>T (p.Asp322=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 521647	NM_006009.4(TUBA1A):c.959G>A (p.Arg320His)	TUBA1A (R320H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 864866	NM_006009.4(TUBA1A):c.958C>T (p.Arg320Cys)	TUBA1A (R285C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2507148	NM_006009.4(TUBA1A):c.922C>T (p.Arg308Cys)	TUBA1A (R273C +1 more)	Single nucleotide variant (missense variant)	TUBA1A-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 431850	NM_006009.4(TUBA1A):c.919C>T (p.Pro307Ser)	TUBA1A (P307S +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +1 more	GLikely pathogenic
Select item 452573	NM_006009.4(TUBA1A):c.916G>T (p.Asp306Tyr)	TUBA1A (D306Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 429793	NM_006009.4(TUBA1A):c.887T>C (p.Phe296Ser)	TUBA1A (F296S +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +1 more	GLikely pathogenic
Select item 957529	NM_006009.4(TUBA1A):c.878A>G (p.Asn293Ser)	TUBA1A (N258S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2582653	NM_006009.4(TUBA1A):c.870G>T (p.Glu290Asp)	TUBA1A (E255D +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation +1 more	GConflicting classifications of pathogenicity
Select item 421873	NM_006009.4(TUBA1A):c.815A>G (p.Tyr272Cys)	TUBA1A (Y272C +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +1 more	GLikely pathogenic
Select item 265283	NM_006009.4(TUBA1A):c.790C>G (p.Arg264Gly)	TUBA1A (R264G +1 more)	Single nucleotide variant (missense variant)	Lissencephaly type 3 +2 more	GConflicting classifications of pathogenicity
Select item 7070	NM_006009.4(TUBA1A):c.790C>T (p.Arg264Cys)	TUBA1A (R264C +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation +3 more	GPathogenic
Select item 212493	NM_006009.4(TUBA1A):c.786T>C (p.Tyr262=)	TUBA1A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 450468	NM_006009.4(TUBA1A):c.733G>A (p.Asp245Asn)	TUBA1A (D245N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 422375	NM_006009.4(TUBA1A):c.715A>C (p.Thr239Pro)	TUBA1A (T239P +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +1 more	GLikely pathogenic
Select item 2446561	NM_006009.4(TUBA1A):c.667A>G (p.Thr223Ala)	TUBA1A (T188A +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 372561	NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn)	TUBA1A (D218N +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 432708	NM_006009.4(TUBA1A):c.641G>T (p.Arg214Leu)	TUBA1A (R214L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 372542	NM_006009.4(TUBA1A):c.641G>A (p.Arg214His)	TUBA1A (R214H +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation +3 more	GPathogenic/Likely pathogenic
Select item 1187068	NM_006009.4(TUBA1A):c.640C>T (p.Arg214Cys)	TUBA1A (R179C +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 625474	NM_006009.4(TUBA1A):c.629A>G (p.Tyr210Cys)	TUBA1A (Y210C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1306966	NM_006009.4(TUBA1A):c.581C>T (p.Thr194Ile)	TUBA1A (T159I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331729	NM_006009.4(TUBA1A):c.539C>T (p.Ala180Val)	TUBA1A (A145V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1803307	NM_006009.4(TUBA1A):c.528G>T (p.Gln176His)	TUBA1A (Q141H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 137850	NM_006009.4(TUBA1A):c.522G>A (p.Ala174=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 160159	NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val)	TUBA1A (A174V +1 more)	Single nucleotide variant (missense variant)	Early myoclonic encephalopathy +5 more	GConflicting classifications of pathogenicity
Select item 546297	NM_006009.4(TUBA1A):c.520G>C (p.Ala174Pro)	TUBA1A (A174P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 625511	NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu)	TUBA1A (P173L +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy-associated dysgyria +4 more	GConflicting classifications of pathogenicity
Select item 137849	NM_006009.4(TUBA1A):c.510T>C (p.Ser170=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3363317	NM_006009.4(TUBA1A):c.499C>A (p.Leu167Met)	TUBA1A (L132M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304433	NM_006009.4(TUBA1A):c.485G>T (p.Gly162Val)	TUBA1A (G127V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 988579	NM_006009.4(TUBA1A):c.467G>A (p.Arg156His)	TUBA1A (R121H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 381536	NM_006009.4(TUBA1A):c.455T>A (p.Leu152Gln)	TUBA1A (L152Q +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +1 more	GLikely pathogenic
Select item 160157	NM_006009.4(TUBA1A):c.453G>C (p.Ser151=)	TUBA1A	Single nucleotide variant (synonymous variant)	Lissencephaly due to TUBA1A mutation +2 more	GBenign
Select item 625509	NM_006009.4(TUBA1A):c.449C>T (p.Thr150Ile)	TUBA1A (T150I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 429321	NM_006009.4(TUBA1A):c.427G>A (p.Gly143Arg)	TUBA1A (G143R +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +1 more	GConflicting classifications of pathogenicity
Select item 431839	NM_006009.4(TUBA1A):c.424G>T (p.Gly142Cys)	TUBA1A (G142C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 160155	NM_006009.4(TUBA1A):c.396C>T (p.Leu132=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 309112	NM_006009.4(TUBA1A):c.390G>C (p.Thr130=)	TUBA1A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 427180	NM_006009.4(TUBA1A):c.379G>A (p.Asp127Asn)	TUBA1A (D127N +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +2 more	GPathogenic/Likely pathogenic
Select item 992310	NM_006009.4(TUBA1A):c.376-1G>C	TUBA1A	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1180021	NM_006009.4(TUBA1A):c.376-149G>A	TUBA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 265378	NM_006009.4(TUBA1A):c.367C>T (p.Arg123Cys)	TUBA1A (R123C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1174504	NM_006009.4(TUBA1A):c.362G>A (p.Arg121Gln)	TUBA1A (R121Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 217023	NM_006009.4(TUBA1A):c.352G>A (p.Val118Met)	TUBA1A (V118M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 426626	NM_006009.4(TUBA1A):c.344T>C (p.Ile115Thr)	TUBA1A (I115T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1311226	NM_006009.4(TUBA1A):c.326C>G (p.Thr109Ser)	TUBA1A (T109S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 625515	NM_006009.4(TUBA1A):c.302A>G (p.Asn101Ser)	TUBA1A (N101S +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +2 more	GPathogenic/Likely pathogenic
Select item 160154	NM_006009.4(TUBA1A):c.288A>G (p.Lys96=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 212492	NM_006009.4(TUBA1A):c.273A>G (p.Gln91=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1211068	NM_006009.4(TUBA1A):c.268G>C (p.Glu90Gln)	TUBA1A (E55Q +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 212490	NM_006009.4(TUBA1A):c.246C>T (p.Thr82=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1012610	NM_006009.4(TUBA1A):c.236G>A (p.Arg79His)	TUBA1A (R44H +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation +1 more	GPathogenic/Likely pathogenic
Select item 431845	NM_006009.4(TUBA1A):c.235C>T (p.Arg79Cys)	TUBA1A (R79C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 513638	NM_006009.4(TUBA1A):c.227-17C>G	TUBA1A	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 259900	NM_006009.4(TUBA1A):c.227-38C>G	TUBA1A	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 259901	NM_006009.4(TUBA1A):c.227-42T>C	TUBA1A	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 160152	NM_006009.4(TUBA1A):c.226+10C>T	TUBA1A	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 420581	NM_006009.4(TUBA1A):c.190C>T (p.Arg64Trp)	TUBA1A (R64W +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation +2 more	GPathogenic/Likely pathogenic
Select item 160151	NM_006009.4(TUBA1A):c.189C>T (p.Pro63=)	TUBA1A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 3340611	NM_006009.4(TUBA1A):c.167C>G (p.Thr56Arg)	TUBA1A (T21R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 625513	NM_006009.4(TUBA1A):c.167C>T (p.Thr56Met)	TUBA1A (T56M +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +2 more	GPathogenic
Select item 431912	NM_006009.4(TUBA1A):c.139G>C (p.Asp47His)	TUBA1A (D47H +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +1 more	GLikely pathogenic
Select item 2473848	NM_006009.4(TUBA1A):c.128G>T (p.Gly43Val)	TUBA1A (G43V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 432052	NM_006009.4(TUBA1A):c.82C>T (p.His28Tyr)	TUBA1A (H28Y)	Single nucleotide variant (missense variant +1 more)	Tubulinopathy +2 more	GConflicting classifications of pathogenicity
Select item 381537	NM_006009.4(TUBA1A):c.79G>C (p.Glu27Gln)	TUBA1A (E27Q)	Single nucleotide variant (missense variant +1 more)	Tubulinopathy +1 more	GPathogenic
Select item 421567	NM_006009.4(TUBA1A):c.53A>G (p.Asn18Ser)	TUBA1A (N18S)	Single nucleotide variant (missense variant +1 more)	Tubulinopathy +3 more	GConflicting classifications of pathogenicity
Select item 2497830	NM_006009.4(TUBA1A):c.48del (p.Ile16fs)	TUBA1A (I16fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 379329	NM_006009.4(TUBA1A):c.17C>G (p.Ser6Cys)	TUBA1A (S6C)	Single nucleotide variant (missense variant +1 more)	Tubulinopathy +1 more	GPathogenic/Likely pathogenic

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