Related gene-specific medical variations for Gene (Select 113457) - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330195	NM_080386.4(TUBA3D):c.101G>A (p.Gly34Asp)	MZT2A, TUBA3D (G34D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330194	NM_080386.4(TUBA3D):c.716C>T (p.Thr239Ile)	MZT2A, TUBA3D (T239I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330193	NM_080386.4(TUBA3D):c.640C>T (p.Arg214Trp)	MZT2A, TUBA3D (R214W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330192	NM_080386.4(TUBA3D):c.133G>A (p.Gly45Arg)	MZT2A, TUBA3D (G45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330190	NM_080386.4(TUBA3D):c.1255T>A (p.Ser419Thr)	MZT2A, TUBA3D (S419T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184725	NM_080386.4(TUBA3D):c.643C>T (p.Arg215Cys)	MZT2A, TUBA3D (R215C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184724	NM_080386.4(TUBA3D):c.637T>C (p.Cys213Arg)	MZT2A, TUBA3D (C213R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184722	NM_080386.4(TUBA3D):c.592T>C (p.Ser198Pro)	MZT2A, TUBA3D (S198P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184721	NM_080386.4(TUBA3D):c.266C>T (p.Pro89Leu)	MZT2A, TUBA3D (P89L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184720	NM_080386.4(TUBA3D):c.25G>A (p.Val9Met)	MZT2A, TUBA3D (V9M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184718	NM_080386.4(TUBA3D):c.1168C>G (p.Arg390Gly)	MZT2A, TUBA3D (R390G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184717	NM_080386.4(TUBA3D):c.1018A>G (p.Thr340Ala)	MZT2A, TUBA3D (T340A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184716	NM_080386.4(TUBA3D):c.1015C>T (p.Arg339Cys)	MZT2A, TUBA3D (R339C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024875	NM_080386.4(TUBA3D):c.867C>T (p.Ala289=)	MZT2A, TUBA3D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024874	NM_080386.4(TUBA3D):c.849C>T (p.His283=)	MZT2A, TUBA3D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2681629	NM_080386.4(TUBA3D):c.1185C>T (p.Phe395=)	MZT2A, TUBA3D	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2602923	NM_080386.4(TUBA3D):c.998C>T (p.Ala333Val)	MZT2A, TUBA3D (A333V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598105	NM_080386.4(TUBA3D):c.1184T>C (p.Phe395Ser)	MZT2A, TUBA3D (F395S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597684	NM_080386.4(TUBA3D):c.968T>C (p.Val323Ala)	MZT2A, TUBA3D (V323A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594032	NM_080386.4(TUBA3D):c.598T>C (p.Cys200Arg)	MZT2A, TUBA3D (C200R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560412	NM_080386.4(TUBA3D):c.989C>T (p.Ala330Val)	MZT2A, TUBA3D (A330V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517106	NM_080386.4(TUBA3D):c.910A>G (p.Lys304Glu)	MZT2A, TUBA3D (K304E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509148	NM_080386.4(TUBA3D):c.1169G>A (p.Arg390His)	MZT2A, TUBA3D (R390H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483624	NM_080386.4(TUBA3D):c.139G>A (p.Asp47Asn)	MZT2A, TUBA3D (D47N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471341	NM_080386.4(TUBA3D):c.668C>A (p.Thr223Lys)	MZT2A, TUBA3D (T223K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466825	NM_080386.4(TUBA3D):c.1204C>T (p.Arg402Trp)	MZT2A, TUBA3D (R402W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408491	NM_080386.4(TUBA3D):c.1267G>A (p.Glu423Lys)	MZT2A, TUBA3D (E423K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401190	NM_080386.4(TUBA3D):c.758C>T (p.Thr253Met)	MZT2A, TUBA3D (T253M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352775	NM_080386.4(TUBA3D):c.1093G>A (p.Gly365Arg)	MZT2A, TUBA3D (G365R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344709	NM_080386.4(TUBA3D):c.467G>A (p.Arg156Gln)	MZT2A, TUBA3D (R156Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321137	NM_080386.4(TUBA3D):c.656T>C (p.Ile219Thr)	MZT2A, TUBA3D (I219T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297576	NM_080386.4(TUBA3D):c.430G>A (p.Gly144Ser)	MZT2A, TUBA3D (G144S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262122	NM_080386.4(TUBA3D):c.158T>C (p.Phe53Ser)	MZT2A, TUBA3D (F53S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249222	NM_080386.4(TUBA3D):c.880G>A (p.Ala294Thr)	MZT2A, TUBA3D (A294T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204981	NM_080386.4(TUBA3D):c.799T>A (p.Phe267Ile)	MZT2A, TUBA3D (F267I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204306	NM_080386.4(TUBA3D):c.1103T>G (p.Leu368Arg)	MZT2A, TUBA3D (L368R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791870	NM_080386.4(TUBA3D):c.341T>A (p.Ile114Asn)	MZT2A, TUBA3D (I114N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 791869	NM_080386.4(TUBA3D):c.309C>T (p.Tyr103=)	MZT2A, TUBA3D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 788512	NM_080386.4(TUBA3D):c.4-9T>G	MZT2A, TUBA3D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 732585	NM_080386.4(TUBA3D):c.1264C>T (p.Arg422Cys)	MZT2A, TUBA3D (R422C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 710894	NM_080386.4(TUBA3D):c.1122C>T (p.Ala374=)	TUBA3D, MZT2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 517114	NM_080386.4(TUBA3D):c.200_201dup (p.Val68fs)	MZT2A, TUBA3D (V68fs)	Duplication (frameshift variant)	Keratoconus 9	GPathogenic
Select item 517113	NM_080386.4(TUBA3D):c.31C>T (p.Gln11Ter)	MZT2A, TUBA3D (Q11*)	Single nucleotide variant (nonsense)	Keratoconus 9	GPathogenic

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Links from Gene

Items: 43