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Links from MedGen

Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC88C
(K2006fs)
Deletion
(frameshift variant)
Hydrocephalus, nonsyndromic, autosomal recessive 1
GUncertain significance
CCDC88C
(R1489*)
Single nucleotide variant
(nonsense)
Hydrocephalus, nonsyndromic, autosomal recessive 1
GUncertain significance
FSD1L
(Q438* +3 more)
Single nucleotide variant
(nonsense)
Hydrocephalus, nonsyndromic, autosomal recessive 1
GPathogenic
CCDC88C
(T362I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CCDC88C
(Q1135R)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 40
+1 more
GUncertain significance
CCDC88C
(R309C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CCDC88C
Single nucleotide variant
(intron variant)
Hydrocephalus, nonsyndromic, autosomal recessive 1
+1 more
GBenign
CCDC88C
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia type 40
+2 more
GBenign
CCDC88C
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CCDC88C
(T1622A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CCDC88C
Single nucleotide variant
(intron variant)
CCDC88C-related condition
+2 more
GConflicting classifications of pathogenicity
CCDC88C
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+1 more
GUncertain significance
CCDC88C
(F1024L)
Single nucleotide variant
(missense variant)
Hydrocephalus, nonsyndromic, autosomal recessive 1
GUncertain significance
CCDC88C
(M1216R)
Single nucleotide variant
(missense variant)
Hydrocephalus, nonsyndromic, autosomal recessive 1
GUncertain significance
CCDC88C
(D1057G)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 40
+1 more
GUncertain significance
CCDC88C
(E1761K)
Single nucleotide variant
(missense variant)
Hydrocephalus, nonsyndromic, autosomal recessive 1
GUncertain significance
CCDC88C
(K86*)
Duplication
(nonsense)
Hydrocephalus, nonsyndromic, autosomal recessive 1
GPathogenic
CCDC88C
Single nucleotide variant
(intron variant)
Hydrocephalus, nonsyndromic, autosomal recessive 1
GUncertain significance
CCDC88C
Single nucleotide variant
(synonymous variant)
Hydrocephalus, nonsyndromic, autosomal recessive 1
+2 more
GBenign/Likely benign
CCDC88C
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 40
+3 more
GBenign/Likely benign
CCDC88C
(F1728S)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 40
+2 more
GBenign/Likely benign
CCDC88C
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
CCDC88C
(R801Q)
Single nucleotide variant
(missense variant)
Hydrocephalus, nonsyndromic, autosomal recessive 1
GUncertain significance
CCDC88C
(F1755fs)
Deletion
(frameshift variant)
Hydrocephalus, nonsyndromic, autosomal recessive 1
GPathogenic
CCDC88C
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CCDC88C
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
CCDC88C
(T1527A)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
CCDC88C
(V1478A)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
CCDC88C
(A798V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
CCDC88C
(P2009L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CCDC88C
(R1984Q)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
CCDC88C
(R197Q)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 40
+2 more
GConflicting classifications of pathogenicity
DOCK6
(H312Y)
Single nucleotide variant
(missense variant)
Macrocephaly
+1 more
GUncertain significance
CCDC88C
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
CCDC88C, LOC130056326
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia type 40
+3 more
GBenign
CCDC88C
(L1992P)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 40
+3 more
GBenign
CCDC88C
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 40
+3 more
GBenign
CCDC88C
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia type 40
+3 more
GBenign
CCDC88C
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 40
+3 more
GBenign
CCDC88C
(R735H)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
CCDC88C
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 40
+3 more
GBenign
CCDC88C
(R464H)
Single nucleotide variant
(missense variant)
Hydrocephalus, nonsyndromic, autosomal recessive 1
GUncertain significance
CCDC88C
(E1949fs)
Deletion
(frameshift variant)
Congenital hydrocephalus
GLikely pathogenic
CCDC88C
(R312*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CCDC88C
Single nucleotide variant
(splice donor variant)
Hydrocephalus, nonsyndromic, autosomal recessive 1
GPathogenic
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