C1838023[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 377071	NM_017721.5(CC2D1A):c.18ACCCCCGGG[1] (p.7PPG[1])	CC2D1A	Microsatellite (inframe_deletion)	Intellectual disability, autosomal recessive 3 +1 more	GUncertain significance
Select item 2439780	NM_017721.5(CC2D1A):c.123T>A (p.Asp41Glu)	CC2D1A (D41E)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 3	GUncertain significance
Select item 1324018	NM_017721.5(CC2D1A):c.511_513+1del	CC2D1A	Deletion (splice donor variant)	Intellectual disability, autosomal recessive 3 +1 more	GLikely pathogenic
Select item 997917	NM_017721.5(CC2D1A):c.542G>A (p.Arg181His)	CC2D1A (R181H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 3 +1 more	GUncertain significance
Select item 2439779	NM_017721.5(CC2D1A):c.602C>T (p.Pro201Leu)	CC2D1A (P201L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 3	GUncertain significance
Select item 210607	NM_017721.5(CC2D1A):c.997G>A (p.Ala333Thr)	CC2D1A (A333T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1743783	NM_017721.5(CC2D1A):c.1187G>A (p.Arg396Gln)	CC2D1A (R396Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 3 +1 more	GUncertain significance
Select item 128614	NM_017721.5(CC2D1A):c.1192G>A (p.Val398Met)	CC2D1A (V398M)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 210594	NM_017721.5(CC2D1A):c.1448C>A (p.Pro483His)	CC2D1A (P483H)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1322031	NM_017721.5(CC2D1A):c.1764+1G>C	CC2D1A	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal recessive 3	GPathogenic
Select item 1794595	NM_017721.5(CC2D1A):c.2674G>A (p.Ala892Thr)	CC2D1A (A891T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 3 +1 more	GUncertain significance
Select item 1794973	NM_017721.5(CC2D1A):c.2705G>A (p.Arg902Gln)	CC2D1A (R902Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 3 +1 more	GConflicting classifications of pathogenicity
Select item 808487	NM_017721.5(CC2D1A):c.2776G>C (p.Asp926His)	CC2D1A (D926H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 3 +2 more	GConflicting classifications of pathogenicity