Related gene-specific medical variations for Gene (Select 54862) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064197	NM_017721.5(CC2D1A):c.2711-2A>G	CC2D1A	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal recessive 3	GLikely pathogenic
Select item 2497726	NM_017721.5(CC2D1A):c.2244C>G (p.Asp748Glu)	CC2D1A (D748E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 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 1341702	NM_017721.5(CC2D1A):c.1584G>C (p.Lys528Asn)	CC2D1A (K528N)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 3	GUncertain significance
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 930493	NM_017721.5(CC2D1A):c.2159G>A (p.Arg720His)	CC2D1A (R720H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 3	GUncertain significance
Select item 930492	NM_017721.5(CC2D1A):c.1072C>T (p.Arg358Trp)	CC2D1A (R358W)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 3	GUncertain significance
Select item 445949	NM_017721.5(CC2D1A):c.1940+5G>A	CC2D1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance