"CC2D1A-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 434593	NM_017721.5(CC2D1A):c.60+10C>A	CC2D1A	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2908625	NM_017721.5(CC2D1A):c.81C>T (p.Leu27=)	CC2D1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 735933	NM_017721.5(CC2D1A):c.285C>G (p.Asp95Glu)	CC2D1A (D95E)	Single nucleotide variant (missense variant)	CC2D1A-related disorder +1 more	GLikely benign
Select item 733400	NM_017721.5(CC2D1A):c.313-4G>A	CC2D1A	Single nucleotide variant (intron variant)	CC2D1A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1735248	NM_017721.5(CC2D1A):c.381G>A (p.Pro127=)	CC2D1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 128623	NM_017721.5(CC2D1A):c.566C>T (p.Ala189Val)	CC2D1A (A189V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2831984	NM_017721.5(CC2D1A):c.606G>A (p.Ala202=)	CC2D1A	Single nucleotide variant (synonymous variant)	CC2D1A-related disorder +1 more	GLikely benign
Select item 730626	NM_017721.5(CC2D1A):c.636C>A (p.Thr212=)	CC2D1A	Single nucleotide variant (synonymous variant)	CC2D1A-related disorder +2 more	GLikely benign
Select item 2728160	NM_017721.5(CC2D1A):c.654C>T (p.Ile218=)	CC2D1A	Single nucleotide variant (synonymous variant)	CC2D1A-related disorder +1 more	GLikely benign
Select item 434596	NM_017721.5(CC2D1A):c.705C>T (p.Ala235=)	CC2D1A	Single nucleotide variant (synonymous variant)	CC2D1A-related disorder +2 more	GLikely benign
Select item 2817874	NM_017721.5(CC2D1A):c.819C>T (p.His273=)	CC2D1A	Single nucleotide variant (synonymous variant)	CC2D1A-related disorder +1 more	GLikely benign
Select item 376960	NM_017721.5(CC2D1A):c.905G>A (p.Arg302Gln)	CC2D1A (R302Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 128624	NM_017721.5(CC2D1A):c.980C>T (p.Ser327Leu)	CC2D1A (S327L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 1768577	NM_017721.5(CC2D1A):c.990G>A (p.Pro330=)	CC2D1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 128613	NM_017721.5(CC2D1A):c.1015A>C (p.Thr339Pro)	CC2D1A (T339P)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 2719895	NM_017721.5(CC2D1A):c.1222+9T>C	CC2D1A	Single nucleotide variant (intron variant)	CC2D1A-related disorder +1 more	GLikely benign
Select item 210590	NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val)	CC2D1A (I412V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 3 +4 more	GConflicting classifications of pathogenicity
Select item 714883	NM_017721.5(CC2D1A):c.1399C>G (p.Pro467Ala)	CC2D1A (P467A)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 2894957	NM_017721.5(CC2D1A):c.1419G>A (p.Ser473=)	CC2D1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 210593	NM_017721.5(CC2D1A):c.1424C>T (p.Ser475Leu)	CC2D1A (S475L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 3 +4 more	GConflicting classifications of pathogenicity
Select item 588846	NM_017721.5(CC2D1A):c.1521C>T (p.Ala507=)	CC2D1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 434603	NM_017721.5(CC2D1A):c.1597A>G (p.Met533Val)	CC2D1A (M533V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 3 +3 more	GConflicting classifications of pathogenicity
Select item 714884	NM_017721.5(CC2D1A):c.1642-8C>T	CC2D1A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 128618	NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile)	CC2D1A (T580I)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 210597	NM_017721.5(CC2D1A):c.1974C>T (p.Leu658=)	CC2D1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 210598	NM_017721.5(CC2D1A):c.2048G>A (p.Arg683Gln)	CC2D1A (R683Q)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 434607	NM_017721.5(CC2D1A):c.2088A>G (p.Lys696=)	CC2D1A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 736580	NM_017721.5(CC2D1A):c.2342G>T (p.Gly781Val)	CC2D1A (G781V)	Single nucleotide variant (missense variant)	CC2D1A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 210600	NM_017721.5(CC2D1A):c.2342G>C (p.Gly781Ala)	CC2D1A (G781A)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 434608	NM_017721.5(CC2D1A):c.2372G>A (p.Arg791Gln)	CC2D1A (R791Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 377164	NM_017721.5(CC2D1A):c.2440G>T (p.Ala814Ser)	CC2D1A (A814S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 31