"Ambry Genetics"[submitter] AND "TUBA8"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3184732	NM_018943.3(TUBA8):c.286A>G (p.Lys96Glu)	TUBA8 (K30E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184733	NM_018943.3(TUBA8):c.346G>T (p.Asp116Tyr)	TUBA8 (D116Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2184022	NM_018943.3(TUBA8):c.361C>T (p.Arg121Cys)	TUBA8 (R121C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2274372	NM_018943.3(TUBA8):c.449C>T (p.Thr150Ile)	TUBA8 (T84I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281812	NM_018943.3(TUBA8):c.466C>A (p.Arg156Ser)	TUBA8 (R90S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216712	NM_018943.3(TUBA8):c.637T>G (p.Cys213Gly)	TUBA8 (C147G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1439073	NM_018943.3(TUBA8):c.686G>A (p.Arg229His)	TUBA8 (R163H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2495638	NM_018943.3(TUBA8):c.709T>C (p.Ser237Pro)	TUBA8 (S171P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330197	NM_018943.3(TUBA8):c.734A>T (p.Asp245Val)	TUBA8 (D179V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248724	NM_018943.3(TUBA8):c.949A>G (p.Met317Val)	TUBA8 (M317V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2555468	NM_018943.3(TUBA8):c.959G>T (p.Arg320Leu)	TUBA8 (R320L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1992116	NM_018943.3(TUBA8):c.959G>A (p.Arg320Gln)	TUBA8 (R254Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1442471	NM_018943.3(TUBA8):c.995T>C (p.Ile332Thr)	TUBA8 (I332T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 448843	NM_018943.3(TUBA8):c.1117C>T (p.Arg373Trp)	TUBA8 (R373W +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1429103	NM_018943.3(TUBA8):c.1141A>T (p.Thr381Ser)	TUBA8 (T315S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1481470	NM_018943.3(TUBA8):c.1154C>T (p.Ala385Val)	TUBA8 (A319V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1162871	NM_018943.3(TUBA8):c.1154C>A (p.Ala385Glu)	TUBA8 (A319E +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2991306	NM_018943.3(TUBA8):c.1198G>A (p.Ala400Thr)	TUBA8 (A400T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2468507	NM_018943.3(TUBA8):c.1204C>T (p.Arg402Trp)	TUBA8 (R336W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1374321	NM_018943.3(TUBA8):c.1205G>A (p.Arg402Gln)	TUBA8 (R402Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3184730	NM_018943.3(TUBA8):c.1213G>A (p.Val405Met)	TUBA8 (V339M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184731	NM_018943.3(TUBA8):c.1217A>C (p.His406Pro)	TUBA8 (H340P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330198	NM_018943.3(TUBA8):c.1309A>G (p.Thr437Ala)	TUBA8 (T371A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 26