"Genetic Services Laboratory, University of Chicago"[submitter] AND "T - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 437170	NM_006765.4(TUSC3):c.-4C>T	TUSC3	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 912230	NM_006765.4(TUSC3):c.23C>T (p.Ser8Leu)	TUSC3 (S8L)	Single nucleotide variant (missense variant)	not specified +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 130692	NM_006765.4(TUSC3):c.193A>G (p.Ile65Val)	TUSC3 (I65V)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 1336639	NM_006765.4(TUSC3):c.283C>G (p.Pro95Ala)	TUSC3 (P95A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 95430	NM_006765.4(TUSC3):c.309-6T>C	TUSC3	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 437171	NM_006765.4(TUSC3):c.476G>A (p.Arg159Lys)	TUSC3 (R159K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 212519	NM_006765.4(TUSC3):c.484A>G (p.Arg162Gly)	TUSC3 (R162G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 95431	NM_006765.4(TUSC3):c.912G>A (p.Ser304=)	TUSC3	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 7 +5 more	GBenign/Likely benign
Select item 130691	NM_006765.4(TUSC3):c.1028+8C>G	TUSC3	Single nucleotide variant (intron variant)	not specified +1 more	GLikely 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