TUBA8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59275	GRCh38/hg38 22q11.1-11.21(chr22:11121452-18167952)x3	CECR7, GAB4 +116 more	Copy number gain	See cases	GPathogenic
Select item 152141	GRCh38/hg38 22p11.2-q11.1(chr22:16367190-18178957)x4	LOC130066920, LOC130066917 +112 more	Copy number gain	See cases	GPathogenic
Select item 57553	GRCh38/hg38 22q11.1-11.21(chr22:16538125-20363937)x1	ADA2, ARVCF +234 more	Copy number loss	See cases	GPathogenic
Select item 58170	GRCh38/hg38 22q11.1-11.21(chr22:16578056-18134332)x3	ADA2, CECR7 +107 more	Copy number gain	See cases	GPathogenic
Select item 2499656	GRCh38/hg38 22q11.1-11.21(chr22:16804110-18162024)	ADA2, ATP6V1E1 +105 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
Select item 154503	GRCh38/hg38 22q11.1-11.21(chr22:16916608-18179006)x4	ADA2, ATP6V1E1 +105 more	Copy number gain	See cases	GPathogenic
Select item 154375	GRCh38/hg38 22q11.1-11.21(chr22:16916608-18997006)x4	ADA2, ATP6V1E1 +121 more	Copy number gain	See cases	GPathogenic
Select item 144304	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x1	ADA2, ARVCF +227 more	Copy number loss	See cases	GPathogenic
Select item 144303	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x3	ADA2, ARVCF +227 more	Copy number gain	See cases	GPathogenic
Select item 144200	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3	LINC01664, LINC02891 +226 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 59279	GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3	LOC130067034, LOC130067035 +535 more	Copy number gain	See cases	GPathogenic
Select item 57427	GRCh38/hg38 22q11.1-11.21(chr22:16916608-18718532)x3	ADA2, ATP6V1E1 +114 more	Copy number gain	See cases	GPathogenic
Select item 57203	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x1	ADA2, ARVCF +225 more	Copy number loss	See cases	GPathogenic
Select item 57202	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x3	ADA2, ARVCF +225 more	Copy number gain	See cases	GPathogenic
Select item 57029	GRCh38/hg38 22q11.1-11.21(chr22:16916608-21151128)x3	LOC132090637, LOC132090638 +292 more	Copy number gain	See cases	GPathogenic
Select item 150808	GRCh38/hg38 22q11.1-11.21(chr22:16916743-18145439)x3	ADA2, ATP6V1E1 +101 more	Copy number gain	See cases	GPathogenic
Select item 149666	GRCh38/hg38 22q11.1-11.21(chr22:16916743-18718546)x3	ADA2, ATP6V1E1 +114 more	Copy number gain	See cases	GPathogenic
Select item 149401	GRCh38/hg38 22q11.1-11.21(chr22:16916743-18178991)x3	ADA2, ATP6V1E1 +105 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144589	GRCh38/hg38 22q11.1-11.21(chr22:16916743-19597367)x3	ADA2, ATP6V1E1 +151 more	Copy number gain	See cases	GPathogenic
Select item 59280	GRCh38/hg38 22q11.21(chr22:18050488-18955291)x3	DGCR6, FAM230A +29 more	Copy number gain	See cases	GPathogenic
Select item 147730	GRCh38/hg38 22q11.21(chr22:18087546-19196905)x3	CLTCL1, DGCR11 +38 more	Copy number gain	See cases	GPathogenic
Select item 1198833	NC_000022.11:g.18110361C>T	LOC130066944, TUBA8	Single nucleotide variant	not provided	GLikely benign
Select item 1178498	NC_000022.11:g.18110385C>T	LOC130066944, TUBA8	Single nucleotide variant	not provided	GLikely benign
Select item 1199579	NC_000022.11:g.18110474C>T	LOC130066944, TUBA8	Single nucleotide variant	not provided	GLikely benign
Select item 1246318	NC_000022.11:g.18110514G>A	TUBA8	Single nucleotide variant	not provided	GBenign
Select item 384315	NM_018943.3(TUBA8):c.-7G>C	LOC130066945, TUBA8	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1916347	NM_018943.3(TUBA8):c.-2_3+5del	LOC130066945, TUBA8	Deletion (splice donor variant +2 more)	not provided	GUncertain significance
Select item 1350951	NM_018943.3(TUBA8):c.3+2T>G	LOC130066945, TUBA8	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 2036635	NM_018943.3(TUBA8):c.3+15G>T	LOC130066945, TUBA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1650004	NM_018943.3(TUBA8):c.3+17C>G	LOC130066945, TUBA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198662	NM_018943.3(TUBA8):c.3+48G>A	LOC130066945, TUBA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216902	NM_018943.3(TUBA8):c.3+185A>G	TUBA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207808	NM_018943.3(TUBA8):c.3+256G>A	TUBA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195421	NM_018943.3(TUBA8):c.3+313A>C	TUBA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205249	NM_018943.3(TUBA8):c.4-112C>T	TUBA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 4782	NM_018943.3(TUBA8):c.4-21_4-8del	TUBA8	Deletion (intron variant)	Polymicrogyria with optic nerve hypoplasia	GUncertain significance
Select item 2753491	NM_018943.3(TUBA8):c.4-19T>G	TUBA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795698	NM_018943.3(TUBA8):c.4-15T>C	TUBA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2164815	NM_018943.3(TUBA8):c.4-10C>T	TUBA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1478993	NM_018943.3(TUBA8):c.4-10C>A	TUBA8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1653827	NM_018943.3(TUBA8):c.4-5del	TUBA8	Deletion (intron variant)	not provided	GBenign
Select item 1308984	NM_018943.3(TUBA8):c.4C>T (p.Arg2Trp)	TUBA8 (R2W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1033914	NM_018943.3(TUBA8):c.5G>A (p.Arg2Gln)	TUBA8 (R2Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Polymicrogyria with optic nerve hypoplasia +1 more	GUncertain significance
Select item 1362188	NM_018943.3(TUBA8):c.25G>C (p.Val9Leu)	TUBA8 (V9L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 195349	NM_018943.3(TUBA8):c.40G>T (p.Val14Phe)	TUBA8 (V14F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1502838	NM_018943.3(TUBA8):c.55G>T (p.Ala19Ser)	TUBA8 (A19S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1418256	NM_018943.3(TUBA8):c.56C>T (p.Ala19Val)	TUBA8 (A19V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1686847	NM_018943.3(TUBA8):c.59G>A (p.Cys20Tyr)	TUBA8 (C20Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Macrothrombocytopenia, isolated, 2, autosomal dominant	GPathogenic
Select item 2087867	NM_018943.3(TUBA8):c.64G>A (p.Glu22Lys)	TUBA8 (E22K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2097253	NM_018943.3(TUBA8):c.67C>G (p.Leu23Val)	TUBA8 (L23V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2092773	NM_018943.3(TUBA8):c.70T>C (p.Phe24Leu)	TUBA8 (F24L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2183918	NM_018943.3(TUBA8):c.84C>T (p.His28=)	TUBA8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1502564	NM_018943.3(TUBA8):c.89T>A (p.Ile30Asn)	TUBA8 (I30N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2897255	NM_018943.3(TUBA8):c.91C>T (p.Gln31Ter)	TUBA8 (Q31*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1622691	NM_018943.3(TUBA8):c.99C>T (p.Asp33=)	TUBA8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1356094	NM_018943.3(TUBA8):c.102C>T (p.Gly34=)	TUBA8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1965599	NM_018943.3(TUBA8):c.107T>C (p.Phe36Ser)	TUBA8 (F36S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1927243	NM_018943.3(TUBA8):c.108T>C (p.Phe36=)	TUBA8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1435271	NM_018943.3(TUBA8):c.108T>A (p.Phe36Leu)	TUBA8 (F36L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1511691	NM_018943.3(TUBA8):c.128T>C (p.Ile43Thr)	TUBA8 (I43T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 2189418	NM_018943.3(TUBA8):c.132C>T (p.Asn44=)	TUBA8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 448844	NM_018943.3(TUBA8):c.132C>G (p.Asn44Lys)	TUBA8 (N44K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2809639	NM_018943.3(TUBA8):c.158T>C (p.Phe53Ser)	TUBA8 (F53S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1617791	NM_018943.3(TUBA8):c.162C>T (p.Ser54=)	TUBA8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3006443	NM_018943.3(TUBA8):c.163G>A (p.Glu55Lys)	TUBA8 (E55K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1349344	NM_018943.3(TUBA8):c.166A>T (p.Thr56Ser)	TUBA8 (T56S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2782773	NM_018943.3(TUBA8):c.175G>A (p.Gly59Arg)	TUBA8 (G59R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1938867	NM_018943.3(TUBA8):c.190del (p.Arg64fs)	TUBA8 (R64fs)	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1609249	NM_018943.3(TUBA8):c.189C>T (p.Pro63=)	TUBA8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2886587	NM_018943.3(TUBA8):c.190C>T (p.Arg64Trp)	TUBA8 (R64W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2546943	NM_018943.3(TUBA8):c.191G>A (p.Arg64Gln)	TUBA8 (R64Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1551854	NM_018943.3(TUBA8):c.195C>T (p.Ala65=)	TUBA8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2142891	NM_018943.3(TUBA8):c.196G>A (p.Val66Ile)	TUBA8 (V66I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2009356	NM_018943.3(TUBA8):c.198C>T (p.Val66=)	TUBA8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1899348	NM_018943.3(TUBA8):c.199A>T (p.Met67Leu)	TUBA8 (M1L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1686848	NM_018943.3(TUBA8):c.202A>C (p.Ile68Leu)	TUBA8 (I68L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1468096	NM_018943.3(TUBA8):c.202A>G (p.Ile68Val)	TUBA8 (I68V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1988720	NM_018943.3(TUBA8):c.216T>C (p.Pro72=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2009434	NM_018943.3(TUBA8):c.220G>C (p.Val74Leu)	TUBA8 (V8L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992007	NM_018943.3(TUBA8):c.226+17T>C	TUBA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275034	NM_018943.3(TUBA8):c.226+81C>T	TUBA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217724	NM_018943.3(TUBA8):c.226+82G>A	TUBA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200562	NM_018943.3(TUBA8):c.227-249T>C	TUBA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201960	NM_018943.3(TUBA8):c.227-165G>T	TUBA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1997351	NM_018943.3(TUBA8):c.227-10C>G	TUBA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655293	NM_018943.3(TUBA8):c.227-10C>T	TUBA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 388448	NM_018943.3(TUBA8):c.227-6T>C	TUBA8	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1983050	NM_018943.3(TUBA8):c.227-2del	TUBA8	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 2996347	NM_018943.3(TUBA8):c.232G>T (p.Val78Phe)	TUBA8 (V12F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1387271	NM_018943.3(TUBA8):c.235C>T (p.Arg79Trp)	TUBA8 (R13W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998793	NM_018943.3(TUBA8):c.246C>A (p.Thr82=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 437123	NM_018943.3(TUBA8):c.249C>T (p.Tyr83=)	TUBA8	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 160171	NM_018943.3(TUBA8):c.250C>T (p.Arg84Cys)	TUBA8 (R84C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 432219	NM_018943.3(TUBA8):c.251G>A (p.Arg84His)	TUBA8 (R84H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1924223	NM_018943.3(TUBA8):c.252C>T (p.Arg84=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1524544	NM_018943.3(TUBA8):c.262C>T (p.His88Tyr)	TUBA8 (H88Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1994538	NM_018943.3(TUBA8):c.264T>C (p.His88=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2752006	NM_018943.3(TUBA8):c.267A>G (p.Pro89=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

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