C1970197[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1325580	NM_006765.4(TUSC3):c.19C>T (p.Pro7Ser)	TUSC3 (P7S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 912231	NM_006765.4(TUSC3):c.25C>G (p.Arg9Gly)	TUSC3 (R9G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7 +2 more	GUncertain significance
Select item 970406	NM_006765.4(TUSC3):c.31A>G (p.Arg11Gly)	TUSC3 (R11G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 547986	NM_006765.4(TUSC3):c.38C>T (p.Ala13Val)	TUSC3 (A13V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7 +3 more	GUncertain significance
Select item 1059475	NM_006765.4(TUSC3):c.53G>A (p.Arg18Gln)	TUSC3 (R18Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 848284	NM_006765.4(TUSC3):c.67G>A (p.Gly23Arg)	TUSC3 (G23R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 1980008	NM_006765.4(TUSC3):c.85C>T (p.Leu29Phe)	TUSC3 (L29F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 588647	NM_006765.4(TUSC3):c.87C>T (p.Leu29=)	TUSC3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2729886	NM_006765.4(TUSC3):c.93G>C (p.Leu31=)	TUSC3	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 7	GLikely benign
Select item 2885589	NM_006765.4(TUSC3):c.94C>T (p.Leu32=)	TUSC3	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 7	GLikely benign
Select item 2013450	NM_006765.4(TUSC3):c.116G>T (p.Gly39Val)	TUSC3 (G39V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 1672266	NM_006765.4(TUSC3):c.139-6T>C	TUSC3	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 7	GLikely benign
Select item 2193464	NM_006765.4(TUSC3):c.142C>A (p.Leu48Ile)	TUSC3 (L28I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 2723317	NM_006765.4(TUSC3):c.159A>C (p.Val53=)	TUSC3	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 7	GLikely benign
Select item 1517661	NM_006765.4(TUSC3):c.187C>T (p.Arg63Cys)	TUSC3 (R63C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 130692	NM_006765.4(TUSC3):c.193A>G (p.Ile65Val)	TUSC3 (I65V)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 1904146	NM_006765.4(TUSC3):c.238C>G (p.Pro80Ala)	TUSC3 (P24A +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 2078373	NM_006765.4(TUSC3):c.255C>T (p.Ser85=)	TUSC3	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 7	GLikely benign
Select item 2885034	NM_006765.4(TUSC3):c.309-16C>T	TUSC3	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 7	GLikely benign
Select item 2746559	NM_006765.4(TUSC3):c.309-15C>G	TUSC3	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 7	GBenign
Select item 1373632	NM_006765.4(TUSC3):c.309-8C>G	TUSC3	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 7	GLikely benign
Select item 95430	NM_006765.4(TUSC3):c.309-6T>C	TUSC3	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 858917	NM_006765.4(TUSC3):c.309-3C>G	TUSC3	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 973756	NM_006765.4(TUSC3):c.420dup (p.Gln141fs)	TUSC3 (Q141fs)	Duplication (frameshift variant)	Intellectual disability, autosomal recessive 7	GPathogenic
Select item 2737480	NM_006765.4(TUSC3):c.426+16G>A	TUSC3	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 7	GLikely benign
Select item 937295	NM_006765.4(TUSC3):c.557C>T (p.Thr186Met)	TUSC3 (T186M)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 910173	NM_006765.4(TUSC3):c.568-15A>G	TUSC3	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 7 +1 more	GConflicting classifications of pathogenicity
Select item 2110243	NM_006765.4(TUSC3):c.581G>C (p.Arg194Thr)	TUSC3 (R65T +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 2146667	NM_006765.4(TUSC3):c.609T>G (p.Ala203=)	TUSC3	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 7	GLikely benign
Select item 2072136	NM_006765.4(TUSC3):c.640T>C (p.Leu214=)	TUSC3	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 7	GLikely benign
Select item 744236	NM_006765.4(TUSC3):c.648T>C (p.Tyr216=)	TUSC3	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 7	GLikely benign
Select item 1022009	NM_006765.4(TUSC3):c.670T>G (p.Phe224Val)	TUSC3 (F224V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 2997260	NM_006765.4(TUSC3):c.708+16G>T	TUSC3	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 7	GLikely benign
Select item 362313	NM_006765.4(TUSC3):c.768T>C (p.Tyr256=)	TUSC3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1599355	NM_006765.4(TUSC3):c.862+19G>A	TUSC3	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 7 +1 more	GBenign
Select item 660691	NC_000008.10:g.(?_15601027)_(15621747_?)dup	TUSC3	Duplication	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 2178051	NM_006765.4(TUSC3):c.863A>T (p.Asn288Ile)	TUSC3 (N159I +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 2081194	NM_006765.4(TUSC3):c.867C>T (p.Ala289=)	TUSC3	Single nucleotide variant (synonymous variant +2 more)	Intellectual disability, autosomal recessive 7	GLikely benign
Select item 2157268	NM_006765.4(TUSC3):c.868G>A (p.Ala290Thr)	TUSC3 (A288T +5 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 95431	NM_006765.4(TUSC3):c.912G>A (p.Ser304=)	TUSC3	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 2727275	NM_006765.4(TUSC3):c.924T>G (p.Val308=)	TUSC3	Single nucleotide variant (synonymous variant +2 more)	Intellectual disability, autosomal recessive 7	GLikely benign
Select item 1643149	NM_006765.4(TUSC3):c.938-12G>C	TUSC3	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 7	GLikely benign
Select item 2151256	NM_006765.4(TUSC3):c.938-10C>G	TUSC3	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 7	GLikely benign
Select item 2114533	NM_006765.4(TUSC3):c.946C>T (p.Leu316=)	TUSC3	Single nucleotide variant (synonymous variant +2 more)	Intellectual disability, autosomal recessive 7	GLikely benign
Select item 95432	NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter)	TUSC3 (S331*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 1589506	NM_006765.4(TUSC3):c.1028+11T>C	TUSC3	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 7	GBenign/Likely benign
Select item 437172	NM_006765.4(TUSC3):c.1029-8T>C	TUSC3	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3245516	NC_000008.10:g.(?_15508186)_(15615318_?)del	TUSC3	Deletion	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 3245514	NC_000008.10:g.(?_15397940)_(15615318_?)del	TUSC3	Deletion	Intellectual disability, autosomal recessive 7	GPathogenic
Select item 1400888	NC_000008.10:g.(?_15397940)_(15615318_?)dup	TUSC3	Duplication	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 1062649	NC_000008.10:g.(?_15588155)_(15615318_?)del	TUSC3	Deletion	Intellectual disability, autosomal recessive 7	GUncertain significance

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Items: 51