C2750791[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 908694	NM_001160372.4(TRAPPC9):c.3280-8C>G	TRAPPC9	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 13 +1 more	GConflicting classifications of pathogenicity
Select item 130633	NM_001160372.4(TRAPPC9):c.3279+4C>T	TRAPPC9	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 212432	NM_001160372.4(TRAPPC9):c.3175G>A (p.Ala1059Thr)	TRAPPC9 (A1059T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 362064	NM_001160372.4(TRAPPC9):c.3149G>A (p.Arg1050Gln)	TRAPPC9 (R1148Q +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual Disability, Recessive +5 more	GConflicting classifications of pathogenicity
Select item 362065	NM_001160372.4(TRAPPC9):c.3136C>T (p.Arg1046Trp)	TRAPPC9 (R1046W +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 909550	NM_001160372.4(TRAPPC9):c.3055+11G>A	TRAPPC9	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 13 +1 more	GConflicting classifications of pathogenicity
Select item 362068	NM_001160372.4(TRAPPC9):c.2811-4G>A	TRAPPC9	Single nucleotide variant (intron variant)	TRAPPC9-related condition +3 more	GConflicting classifications of pathogenicity
Select item 362072	NM_001160372.4(TRAPPC9):c.2653G>A (p.Glu885Lys)	TRAPPC9 (E885K +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual Disability, Recessive +2 more	GUncertain significance
Select item 362074	NM_001160372.4(TRAPPC9):c.2557-13T>A	TRAPPC9	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 13 +1 more	GBenign
Select item 362075	NM_001160372.4(TRAPPC9):c.2557-14T>A	TRAPPC9	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 13 +1 more	GConflicting classifications of pathogenicity
Select item 362076	NM_001160372.4(TRAPPC9):c.2556+11A>G	TRAPPC9	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 13 +1 more	GConflicting classifications of pathogenicity
Select item 908757	NM_001160372.4(TRAPPC9):c.2556+7T>G	TRAPPC9	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 13 +1 more	GConflicting classifications of pathogenicity
Select item 130626	NM_001160372.4(TRAPPC9):c.2431+7G>A	TRAPPC9	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 130622	NM_001160372.4(TRAPPC9):c.1692C>T (p.Asn564=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign
Select item 908817	NM_001160372.4(TRAPPC9):c.1496-3C>T	TRAPPC9	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 13	GUncertain significance
Select item 130612	NM_001160372.4(TRAPPC9):c.1019C>T (p.Ala340Val)	TRAPPC9 (A438V +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 13 +3 more	GUncertain significance
Select item 362088	NM_001160372.4(TRAPPC9):c.940G>A (p.Ala314Thr)	TRAPPC9 (A314T +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual Disability, Recessive +3 more	GUncertain significance
Select item 362090	NM_001160372.4(TRAPPC9):c.677_683dup (p.Met228fs)	TRAPPC9 (M228fs +1 more)	Duplication (frameshift variant +1 more)	Intellectual disability, autosomal recessive 13	GUncertain significance
Select item 632516	NM_001160372.4(TRAPPC9):c.584+1G>A	TRAPPC9	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal recessive 13	GUncertain significance
Select item 130639	NM_001160372.4(TRAPPC9):c.411C>T (p.Asn137=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign
Select item 130635	NM_001160372.4(TRAPPC9):c.288T>C (p.Phe96=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign
Select item 212436	NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu)	TRAPPC9 (S186L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 130634	NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 13 +4 more	GBenign
Select item 362094	NM_001160372.4(TRAPPC9):c.140G>A (p.Arg47Gln)	TRAPPC9 (R47Q)	Single nucleotide variant (missense variant +1 more)	Intellectual Disability, Recessive +4 more	GUncertain significance
Select item 130628	NM_031466.8(TRAPPC9):c.-11+10G>A	TRAPPC9	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 13 +1 more	GBenign/Likely benign

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Items: 25