"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CCDC88C"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 708836	NM_001080414.4(CCDC88C):c.6027G>A (p.Pro2009=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 444336	NM_001080414.4(CCDC88C):c.6026C>T (p.Pro2009Leu)	CCDC88C (P2009L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 40 +3 more	GUncertain significance
Select item 377273	NM_001080414.4(CCDC88C):c.5951G>A (p.Arg1984Gln)	CCDC88C (R1984Q)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 711611	NM_001080414.4(CCDC88C):c.5183T>C (p.Phe1728Ser)	CCDC88C (F1728S)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 1 +2 more	GBenign/Likely benign
Select item 447020	NM_001080414.4(CCDC88C):c.4668G>A (p.Leu1556=)	CCDC88C	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 447019	NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala)	CCDC88C (T1527A)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 447018	NM_001080414.4(CCDC88C):c.4433T>C (p.Val1478Ala)	CCDC88C (V1478A)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 40 +3 more	GBenign/Likely benign
Select item 786750	NM_001080414.4(CCDC88C):c.4287C>T (p.Thr1429=)	CCDC88C	Single nucleotide variant (synonymous variant)	Hydrocephalus, nonsyndromic, autosomal recessive 1 +2 more	GBenign/Likely benign
Select item 447015	NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val)	CCDC88C (A798V)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 1 +4 more	GConflicting classifications of pathogenicity
Select item 158095	NM_001080414.4(CCDC88C):c.2204G>A (p.Arg735His)	CCDC88C (R735H)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 158124	NM_001080414.4(CCDC88C):c.969C>T (p.Asn323=)	CCDC88C	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 786622	NM_001080414.4(CCDC88C):c.906G>A (p.Ala302=)	CCDC88C	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 376980	NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln)	CCDC88C (R197Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity