ClinVar for Gene (Select 7846) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067949	NM_006009.4(TUBA1A):c.203T>C (p.Val68Ala)	TUBA1A (V33A +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation	GUncertain significance
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 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 3056540	NM_006009.4(TUBA1A):c.171G>T (p.Gly57=)	TUBA1A	Single nucleotide variant (synonymous variant)	TUBA1A-related condition	GLikely benign
Select item 3055443	NM_006009.4(TUBA1A):c.165G>A (p.Glu55=)	TUBA1A	Single nucleotide variant (synonymous variant)	TUBA1A-related condition	GLikely benign
Select item 3054429	NM_006009.4(TUBA1A):c.408G>A (p.Leu136=)	TUBA1A	Single nucleotide variant (synonymous variant)	TUBA1A-related condition	GLikely benign
Select item 3053901	NM_006009.4(TUBA1A):c.376-9_376-8del	TUBA1A	Deletion (intron variant)	TUBA1A-related condition	GLikely benign
Select item 3040389	NM_006009.4(TUBA1A):c.282A>G (p.Thr94=)	TUBA1A	Single nucleotide variant (synonymous variant)	TUBA1A-related condition	GLikely benign
Select item 3024522	NM_006009.4(TUBA1A):c.527A>T (p.Gln176Leu)	TUBA1A (Q141L +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation	GUncertain significance
Select item 3024266	NM_006009.4(TUBA1A):c.52A>T (p.Asn18Tyr)	TUBA1A (N18Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Lissencephaly due to TUBA1A mutation	GLikely pathogenic
Select item 3016684	NM_006009.4(TUBA1A):c.525C>T (p.Pro175=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998481	NM_006009.4(TUBA1A):c.226+6T>C	TUBA1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2996861	NM_006009.4(TUBA1A):c.492G>A (p.Lys164=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989956	NM_006009.4(TUBA1A):c.576C>T (p.His192=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954767	NM_006009.4(TUBA1A):c.762A>G (p.Glu254=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918665	NM_006009.4(TUBA1A):c.1167T>C (p.Ala389=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915629	NM_006009.4(TUBA1A):c.657T>C (p.Ile219=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903235	NM_006009.4(TUBA1A):c.453G>A (p.Ser151=)	TUBA1A	Single nucleotide variant (synonymous variant)	TUBA1A-related condition +1 more	GLikely benign
Select item 2899859	NM_006009.4(TUBA1A):c.132A>T (p.Gly44=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898324	NM_006009.4(TUBA1A):c.753C>T (p.Asp251=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895251	NM_006009.4(TUBA1A):c.543A>G (p.Val181=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 2888119	NM_006009.4(TUBA1A):c.930T>G (p.Gly310=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875176	NM_006009.4(TUBA1A):c.226+14A>C	TUBA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873942	NM_006009.4(TUBA1A):c.882T>A (p.Ala294=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871405	NM_006009.4(TUBA1A):c.519G>A (p.Pro173=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861219	NM_006009.4(TUBA1A):c.4-8C>G	TUBA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2852127	NM_006009.4(TUBA1A):c.227-19C>T	TUBA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2851849	NM_006009.4(TUBA1A):c.110C>T (p.Pro37Leu)	TUBA1A (P2L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2839630	NM_006009.4(TUBA1A):c.384G>A (p.Gln128=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2838932	NM_006009.4(TUBA1A):c.382C>G (p.Gln128Glu)	TUBA1A (Q128E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811313	NM_006009.4(TUBA1A):c.687G>A (p.Arg229=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809895	NM_006009.4(TUBA1A):c.3+20C>T	TUBA1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2806809	NM_006009.4(TUBA1A):c.485G>A (p.Gly162Asp)	TUBA1A (G162D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2778988	NM_006009.4(TUBA1A):c.378C>G (p.Ala126=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2767497	NM_006009.4(TUBA1A):c.578C>T (p.Thr193Ile)	TUBA1A (T158I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2744778	NM_006009.4(TUBA1A):c.420C>A (p.Ser140Arg)	TUBA1A (S105R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2717729	NM_006009.4(TUBA1A):c.250C>A (p.Arg84Ser)	TUBA1A (R84S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2717477	NM_006009.4(TUBA1A):c.413T>C (p.Phe138Ser)	TUBA1A (F138S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2702108	NM_006009.4(TUBA1A):c.227A>T (p.Asp76Val)	TUBA1A (D41V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2664974	NM_006009.4(TUBA1A):c.661C>G (p.Arg221Gly)	TUBA1A (R186G +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation	GUncertain significance
Select item 2664153	NM_006009.4(TUBA1A):c.303T>A (p.Asn101Lys)	TUBA1A (N101K +1 more)	Single nucleotide variant (missense variant)	Congenital bilateral perisylvian syndrome	GPathogenic
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 2637677	NM_006009.4(TUBA1A):c.637_640del (p.Cys213fs)	TUBA1A (C178fs +1 more)	Deletion (frameshift variant)	Lissencephaly type 3	GPathogenic
Select item 2637441	NM_006009.4(TUBA1A):c.828C>A (p.Ile276=)	TUBA1A	Single nucleotide variant (synonymous variant)	not specified	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 condition	GLikely pathogenic
Select item 2635348	NM_006009.4(TUBA1A):c.34G>C (p.Ala12Pro)	TUBA1A (A12P)	Single nucleotide variant (missense variant +1 more)	TUBA1A-related condition	GUncertain significance
Select item 2631575	NM_006009.4(TUBA1A):c.182A>C (p.His61Pro)	TUBA1A (H26P +1 more)	Single nucleotide variant (missense variant)	TUBA1A-related condition	GLikely pathogenic
Select item 2630903	NM_006009.4(TUBA1A):c.1204C>G (p.Arg402Gly)	TUBA1A (R367G +1 more)	Single nucleotide variant (missense variant)	TUBA1A-related condition	GUncertain significance
Select item 2606552	NM_006009.4(TUBA1A):c.3+765A>G	TUBA1A	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 2583182	NM_006009.4(TUBA1A):c.541G>A (p.Val181Ile)	TUBA1A (V146I +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation	GUncertain significance
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 2578682	NM_006009.4(TUBA1A):c.284G>A (p.Gly95Asp)	TUBA1A (G60D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2578681	NM_006009.4(TUBA1A):c.489del (p.Lys164fs)	TUBA1A (K129fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2572426	NM_006009.4(TUBA1A):c.937A>G (p.Met313Val)	TUBA1A (M278V +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation	GUncertain significance
Select item 2548876	NM_006009.4(TUBA1A):c.781C>G (p.Pro261Ala)	TUBA1A (P261A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2507148	NM_006009.4(TUBA1A):c.922C>T (p.Arg308Cys)	TUBA1A (R273C +1 more)	Single nucleotide variant (missense variant)	TUBA1A-related condition +1 more	GPathogenic/Likely pathogenic
Select item 2498557	NM_006009.4(TUBA1A):c.528G>C (p.Gln176His)	TUBA1A (Q141H +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 2497830	NM_006009.4(TUBA1A):c.48del (p.Ile16fs)	TUBA1A (I16fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2473848	NM_006009.4(TUBA1A):c.128G>T (p.Gly43Val)	TUBA1A (G43V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2438431	NM_006009.4(TUBA1A):c.547G>A (p.Glu183Lys)	TUBA1A (E148K +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation	GUncertain significance
Select item 2425458	NC_000012.11:g.(?_49578793)_(49676010_?)dup	TUBA1C, TUBA1A	Duplication	not provided	GUncertain significance
Select item 2421895	NM_006009.4(TUBA1A):c.780G>A (p.Val260=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2414208	NM_006009.4(TUBA1A):c.1023C>T (p.Ile341=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2189215	NM_006009.4(TUBA1A):c.141T>C (p.Asp47=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175160	NM_006009.4(TUBA1A):c.942T>C (p.Ala314=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2102644	NM_006009.4(TUBA1A):c.675T>C (p.Thr225=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2059479	NM_006009.4(TUBA1A):c.376-9T>C	TUBA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2050568	NM_006009.4(TUBA1A):c.791G>T (p.Arg264Leu)	TUBA1A (R229L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2025728	NM_006009.4(TUBA1A):c.542T>C (p.Val181Ala)	TUBA1A (V146A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2012634	NM_006009.4(TUBA1A):c.343A>T (p.Ile115Phe)	TUBA1A (I80F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2010626	NM_006009.4(TUBA1A):c.4-18C>G	TUBA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2010313	NM_006009.4(TUBA1A):c.238A>T (p.Thr80Ser)	TUBA1A (T45S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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 1994504	NM_006009.4(TUBA1A):c.796C>T (p.His266Tyr)	TUBA1A (H266Y +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 1990410	NM_006009.4(TUBA1A):c.192G>A (p.Arg64=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1968576	NM_006009.4(TUBA1A):c.567C>T (p.Leu189=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1960327	NM_006009.4(TUBA1A):c.376-4A>G	TUBA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1953895	NM_006009.4(TUBA1A):c.226+15G>A	TUBA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1944213	NM_006009.4(TUBA1A):c.198G>A (p.Val66=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1942405	NM_006009.4(TUBA1A):c.438T>G (p.Gly146=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1926079	NM_006009.4(TUBA1A):c.630T>C (p.Tyr210=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1914030	NM_006009.4(TUBA1A):c.662G>A (p.Arg221His)	TUBA1A (R186H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911152	NM_006009.4(TUBA1A):c.375+12T>C	TUBA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910320	NM_006009.4(TUBA1A):c.227-12C>G	TUBA1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908546	NM_006009.4(TUBA1A):c.1224C>T (p.Tyr408=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1905436	NM_006009.4(TUBA1A):c.291A>G (p.Glu97=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1805565	NM_006009.4(TUBA1A):c.889G>A (p.Glu297Lys)	TUBA1A (E262K +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation	GUncertain significance
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 1803085	NM_006009.4(TUBA1A):c.615C>A (p.Asp205Glu)	TUBA1A (D170E +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy	GLikely pathogenic
Select item 1803083	NM_006009.4(TUBA1A):c.626T>C (p.Ile209Thr)	TUBA1A (I174T +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy	GLikely pathogenic
Select item 1801499	NM_006009.4(TUBA1A):c.875C>T (p.Thr292Ile)	TUBA1A (T257I +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation	GLikely pathogenic
Select item 1721252	NM_006009.4(TUBA1A):c.70T>C (p.Tyr24His)	TUBA1A (Y24H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1719091	NM_006009.4(TUBA1A):c.427G>C (p.Gly143Arg)	TUBA1A (G108R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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