"Ambry Genetics"[submitter] AND "TUSC3"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 912231	NM_006765.4(TUSC3):c.25C>G (p.Arg9Gly)	TUSC3 (R9G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2555766	NM_006765.4(TUSC3):c.26G>T (p.Arg9Leu)	TUSC3 (R9L)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 547986	NM_006765.4(TUSC3):c.38C>T (p.Ala13Val)	TUSC3 (A13V)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation +3 more	GUncertain significance
Select item 1741031	NM_006765.4(TUSC3):c.44G>A (p.Arg15Gln)	TUSC3 (R15Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7 +1 more	GUncertain significance
Select item 501273	NM_006765.4(TUSC3):c.44G>C (p.Arg15Pro)	TUSC3 (R15P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 588647	NM_006765.4(TUSC3):c.87C>T (p.Leu29=)	TUSC3	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 7 +2 more	GBenign/Likely benign
Select item 1739240	NM_006765.4(TUSC3):c.116G>C (p.Gly39Ala)	TUSC3 (G39A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486712	NM_006765.4(TUSC3):c.162G>T (p.Glu54Asp)	TUSC3 (E54D +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1778112	NM_006765.4(TUSC3):c.168G>C (p.Leu56=)	TUSC3	Single nucleotide variant (synonymous variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 1782049	NM_006765.4(TUSC3):c.188G>C (p.Arg63Pro)	TUSC3 (R43P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 130692	NM_006765.4(TUSC3):c.193A>G (p.Ile65Val)	TUSC3 (I65V)	Single nucleotide variant (missense variant)	TUSC3-related condition +5 more	GBenign/Likely benign
Select item 1793062	NM_006765.4(TUSC3):c.255C>G (p.Ser85=)	TUSC3	Single nucleotide variant (synonymous variant +3 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 587950	NM_006765.4(TUSC3):c.266T>C (p.Met89Thr)	TUSC3 (M89T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605933	NM_006765.4(TUSC3):c.304T>C (p.Cys102Arg)	TUSC3 (C102R +2 more)	Single nucleotide variant (missense variant +4 more)	Inborn genetic diseases	GUncertain significance
Select item 1730047	NM_006765.4(TUSC3):c.330A>G (p.Gln110=)	TUSC3	Single nucleotide variant (synonymous variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 2224970	NM_006765.4(TUSC3):c.414C>A (p.Asp138Glu)	TUSC3 (D118E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544993	NM_006765.4(TUSC3):c.467C>G (p.Pro156Arg)	TUSC3 (P100R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603687	NM_006765.4(TUSC3):c.529C>T (p.Gln177Ter)	TUSC3 (Q33* +5 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 588915	NM_006765.4(TUSC3):c.537A>T (p.Ala179=)	TUSC3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1748480	NM_006765.4(TUSC3):c.558G>A (p.Thr186=)	TUSC3	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 588936	NM_006765.4(TUSC3):c.568-4_568-3delinsAT	TUSC3	Indel (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1750661	NM_006765.4(TUSC3):c.594C>T (p.Tyr198=)	TUSC3	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1753888	NM_006765.4(TUSC3):c.649T>A (p.Leu217Met)	TUSC3 (L88M +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 588337	NM_006765.4(TUSC3):c.673A>G (p.Ile225Val)	TUSC3 (I225V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 362312	NM_006765.4(TUSC3):c.677A>G (p.Tyr226Cys)	TUSC3 (Y226C)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1756412	NM_006765.4(TUSC3):c.697A>G (p.Met233Val)	TUSC3 (M104V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 362313	NM_006765.4(TUSC3):c.768T>C (p.Tyr256=)	TUSC3	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1760718	NM_006765.4(TUSC3):c.780C>G (p.Asn260Lys)	TUSC3 (N116K +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1761500	NM_006765.4(TUSC3):c.798G>A (p.Val266=)	TUSC3	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1764319	NM_006765.4(TUSC3):c.868G>T (p.Ala290Ser)	TUSC3 (A234S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 95431	NM_006765.4(TUSC3):c.912G>A (p.Ser304=)	TUSC3	Single nucleotide variant (synonymous variant)	TUSC3-related condition +5 more	GBenign/Likely benign
Select item 910177	NM_006765.4(TUSC3):c.934C>T (p.Arg312Trp)	TUSC3 (R312W)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1766755	NM_006765.4(TUSC3):c.938-8_939del	TUSC3	Deletion (splice acceptor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 589402	NM_006765.4(TUSC3):c.951G>C (p.Val317=)	TUSC3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2238509	NM_006765.4(TUSC3):c.967G>C (p.Val323Leu)	TUSC3 (V194L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 95432	NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter)	TUSC3 (S331*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 24 +4 more	GPathogenic/Likely pathogenic
Select item 1770299	NM_006765.4(TUSC3):c.1029-5G>C	TUSC3	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2217456	NM_006765.4(TUSC3):c.1033C>G (p.Leu345Val)	TUSC3 (L289V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1774264	NM_006765.4(TUSC3):c.1041dup (p.Glu348Ter)	TUSC3 (E348*)	Duplication (nonsense +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 39