"GeneDx"[submitter] AND "TUBA8"[gene] - ClinVar

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Items: 63

	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 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 59280	GRCh38/hg38 22q11.21(chr22:18050488-18955291)x3	DGCR6, FAM230A +29 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 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 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 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 388448	NM_018943.3(TUBA8):c.227-6T>C	TUBA8	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
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 160172	NM_018943.3(TUBA8):c.324C>T (p.Tyr108=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 516837	NM_018943.3(TUBA8):c.375+20_375+22del	TUBA8	Deletion (intron variant)	not provided	GBenign
Select item 1224842	NM_018943.3(TUBA8):c.375+235A>T	TUBA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259158	NM_018943.3(TUBA8):c.376-302G>T	TUBA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674610	NM_018943.3(TUBA8):c.376-75G>A	TUBA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277459	NM_018943.3(TUBA8):c.376-56G>T	TUBA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205819	NM_018943.3(TUBA8):c.376-34T>C	TUBA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 160173	NM_018943.3(TUBA8):c.383C>T (p.Ala128Val)	TUBA8 (A128V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2186368	NM_018943.3(TUBA8):c.417_418del (p.His139fs)	TUBA8 (H139fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1211134	NM_018943.3(TUBA8):c.427G>T (p.Gly143Trp)	TUBA8 (G143W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 383864	NM_018943.3(TUBA8):c.468C>T (p.Arg156=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 385566	NM_018943.3(TUBA8):c.546G>A (p.Val182=)	TUBA8	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1214212	NM_018943.3(TUBA8):c.708del (p.Ser237fs)	TUBA8 (S171fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1219953	NM_018943.3(TUBA8):c.803C>T (p.Pro268Leu)	TUBA8 (P202L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 668443	NM_018943.3(TUBA8):c.804G>T (p.Pro268=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 160174	NM_018943.3(TUBA8):c.816C>T (p.Tyr272=)	TUBA8	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 137852	NM_018943.3(TUBA8):c.897C>T (p.Asn299=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1708649	NM_018943.3(TUBA8):c.901C>G (p.Gln301Glu)	TUBA8 (Q235E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392735	NM_018943.3(TUBA8):c.902A>G (p.Gln301Arg)	TUBA8 (Q301R +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 160175	NM_018943.3(TUBA8):c.958C>T (p.Arg320Trp)	TUBA8 (R320W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 670257	NM_018943.3(TUBA8):c.1056+53G>A	TUBA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207755	NM_018943.3(TUBA8):c.1056+62G>A	TUBA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 152134	GRCh38/hg38 22q11.21(chr22:18127193-18168847)x3	LOC130066946, LOC130066947 +2 more	Copy number gain	See cases	GBenign
Select item 1297860	NM_018943.3(TUBA8):c.1057-237del	TUBA8	Deletion (intron variant)	not provided	GBenign
Select item 1268879	NM_018943.3(TUBA8):c.1057-238_1057-237del	TUBA8	Deletion (intron variant)	not provided	GBenign
Select item 1204313	NM_018943.3(TUBA8):c.1057-228T>C	TUBA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259630	NM_018943.3(TUBA8):c.1057-141_1057-128del	TUBA8	Deletion (intron variant)	not provided	GBenign
Select item 137853	NM_018943.3(TUBA8):c.1057-7C>T	TUBA8	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 160170	NM_018943.3(TUBA8):c.1080G>A (p.Pro360=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 235703	NM_018943.3(TUBA8):c.1093G>A (p.Gly365Arg)	TUBA8 (G365R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 799741	NM_018943.3(TUBA8):c.1173C>T (p.Leu391=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 518206	NM_018943.3(TUBA8):c.1185C>T (p.Phe395=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3365571	NM_018943.3(TUBA8):c.1239G>T (p.Met413Ile)	TUBA8 (M347I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 499146	NM_018943.3(TUBA8):c.1334A>T (p.Glu445Val)	TUBA8 (E445V +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1188253	NM_018943.3(TUBA8):c.*108C>T	TUBA8	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1197295	NM_018943.3(TUBA8):c.*144G>T	TUBA8	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 253739	GRCh37/hg19 22q11.21(chr22:18411443-18650708)x3	USP18, TUBA8 +2 more	Copy number gain	See cases	GUncertain significance
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253473	GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3	ADA2, ADORA2A +135 more	Copy number gain	See cases	GPathogenic
Select item 253443	GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3	GGTLC3, GNB1L +84 more	Copy number gain	See cases	GPathogenic
Select item 253399	GRCh37/hg19 22q11.1-11.21(chr22:16054691-18650708)x4	CECR2, GAB4 +17 more	Copy number gain	See cases	GPathogenic

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Items: 63