"Baylor Genetics"[submitter] AND "CCDC88C"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033655	NM_001080414.4(CCDC88C):c.4768+6T>C	CCDC88C	Single nucleotide variant (intron variant)	CCDC88C-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1030084	NM_001080414.4(CCDC88C):c.3647T>G (p.Met1216Arg)	CCDC88C (M1216R)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 1	GUncertain significance
Select item 1033654	NM_001080414.4(CCDC88C):c.3358-5G>A	CCDC88C	Single nucleotide variant (intron variant)	Hydrocephalus, nonsyndromic, autosomal recessive 1 +1 more	GUncertain significance
Select item 1030083	NM_001080414.4(CCDC88C):c.3170A>G (p.Asp1057Gly)	CCDC88C (D1057G)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 40 +1 more	GUncertain significance
Select item 1033653	NM_001080414.4(CCDC88C):c.3072C>A (p.Phe1024Leu)	CCDC88C (F1024L)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 1	GUncertain significance
Select item 1033652	NM_001080414.4(CCDC88C):c.3020G>A (p.Cys1007Tyr)	CCDC88C (C1007Y)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 40 +1 more	GUncertain significance
Select item 2094776	NM_001080414.4(CCDC88C):c.2845G>A (p.Asp949Asn)	CCDC88C (D949N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1030086	NM_001080414.4(CCDC88C):c.932A>G (p.Tyr311Cys)	CCDC88C (Y311C)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 40	GUncertain significance
Select item 1030085	NM_001080414.4(CCDC88C):c.786G>T (p.Arg262Ser)	CCDC88C (R262S)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 40	GUncertain significance