Related gene-specific medical variations for Gene (Select 112714) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067303	NM_207312.3(TUBA3E):c.640C>T (p.Arg214Trp)	MZT2B, TUBA3E (R214W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3061818	NM_207312.3(TUBA3E):c.1277C>A (p.Ala426Glu)	MZT2B, TUBA3E (A426E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2690398	NM_207312.3(TUBA3E):c.1056+1G>A	MZT2B, TUBA3E	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2651367	NM_207312.3(TUBA3E):c.669G>A (p.Thr223=)	MZT2B, TUBA3E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651366	NM_207312.3(TUBA3E):c.1155G>A (p.Ala385=)	MZT2B, TUBA3E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651365	NM_207312.3(TUBA3E):c.1246G>A (p.Gly416Arg)	MZT2B, TUBA3E (G416R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2550691	NM_207312.3(TUBA3E):c.671A>C (p.Tyr224Ser)	MZT2B, TUBA3E (Y224S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549551	NM_207312.3(TUBA3E):c.796C>A (p.His266Asn)	MZT2B, TUBA3E (H266N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406255	NM_207312.3(TUBA3E):c.368G>T (p.Arg123Leu)	MZT2B, TUBA3E (R123L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393670	NM_207312.3(TUBA3E):c.617A>G (p.Asn206Ser)	MZT2B, TUBA3E (N206S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393616	NM_207312.3(TUBA3E):c.778G>A (p.Val260Met)	MZT2B, TUBA3E (V260M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383475	NM_207312.3(TUBA3E):c.1175T>A (p.Val392Asp)	MZT2B, TUBA3E (V392D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2383064	NM_207312.3(TUBA3E):c.184G>A (p.Val62Met)	MZT2B, TUBA3E (V62M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364418	NM_207312.3(TUBA3E):c.1342G>A (p.Glu448Lys)	MZT2B, TUBA3E (E448K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358053	NM_207312.3(TUBA3E):c.152C>T (p.Thr51Met)	MZT2B, TUBA3E (T51M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350904	NM_207312.3(TUBA3E):c.454C>A (p.Leu152Met)	MZT2B, TUBA3E (L152M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312253	NM_207312.3(TUBA3E):c.641G>A (p.Arg214Gln)	MZT2B, TUBA3E (R214Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306741	NM_207312.3(TUBA3E):c.1292A>G (p.Asp431Gly)	MZT2B, TUBA3E (D431G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284503	NM_207312.3(TUBA3E):c.686G>A (p.Arg229His)	MZT2B, TUBA3E (R229H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264699	NM_207312.3(TUBA3E):c.1145C>T (p.Thr382Met)	MZT2B, TUBA3E (T382M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255472	NM_207312.3(TUBA3E):c.83A>G (p.His28Arg)	MZT2B, TUBA3E (H28R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252328	NM_207312.3(TUBA3E):c.368G>C (p.Arg123Pro)	MZT2B, TUBA3E (R123P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237932	NM_207312.3(TUBA3E):c.788C>A (p.Pro263His)	MZT2B, TUBA3E (P263H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231444	NM_207312.3(TUBA3E):c.685C>T (p.Arg229Cys)	MZT2B, TUBA3E (R229C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228886	NM_207312.3(TUBA3E):c.1217A>G (p.His406Arg)	MZT2B, TUBA3E (H406R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227877	NM_207312.3(TUBA3E):c.1043C>T (p.Pro348Leu)	MZT2B, TUBA3E (P348L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216761	NM_207312.3(TUBA3E):c.214C>T (p.Pro72Ser)	MZT2B, TUBA3E (P72S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207083	NM_207312.3(TUBA3E):c.803C>G (p.Pro268Arg)	MZT2B, TUBA3E (P268R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1326080	NM_207312.3(TUBA3E):c.376-14C>G	MZT2B, TUBA3E	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326078	NM_207312.3(TUBA3E):c.377C>T (p.Ala126Val)	MZT2B, TUBA3E (A126V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1249668	NM_207312.3(TUBA3E):c.466C>T (p.Arg156Trp)	MZT2B, TUBA3E (R156W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 767824	NM_207312.3(TUBA3E):c.302G>A (p.Ser101Asn)	MZT2B, TUBA3E (S101N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 767823	NM_207312.3(TUBA3E):c.309C>T (p.Tyr103=)	MZT2B, TUBA3E	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 767822	NM_207312.3(TUBA3E):c.661C>A (p.Arg221Ser)	MZT2B, TUBA3E (R221S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 767821	NM_207312.3(TUBA3E):c.927T>C (p.His309=)	MZT2B, TUBA3E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 767820	NM_207312.3(TUBA3E):c.1266C>T (p.Arg422=)	MZT2B, TUBA3E	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 506876	NM_207312.3(TUBA3E):c.225C>T (p.Val75=)	MZT2B, TUBA3E	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 221361	chr2:130949553-130952725 complex variant	TUBA3E	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 183299	NM_207312.3(TUBA3E):c.643C>T (p.Arg215Cys)	MZT2B, TUBA3E (R215C)	Single nucleotide variant (missense variant)	Global developmental delay +3 more	GLikely pathogenic

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Links from Gene

Items: 42