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Links from MedGen

Items: 53

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CC2D1A
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal recessive 3
GUncertain significance
CC2D1A
(D41E)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 3
GUncertain significance
CC2D1A
(P201L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 3
GUncertain significance
CC2D1A
(R902Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CC2D1A
(A891T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CC2D1A
(T802M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CC2D1A
Single nucleotide variant
(splice acceptor variant)
Inborn genetic diseases
+2 more
GLikely pathogenic
CC2D1A
(R396Q)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 3
+1 more
GUncertain significance
CC2D1A
(V426M)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 3
+1 more
GConflicting classifications of pathogenicity
CC2D1A
(K528N)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 3
GUncertain significance
CC2D1A
Deletion
(splice donor variant)
not provided
+1 more
GLikely pathogenic
CC2D1A
Single nucleotide variant
(splice donor variant)
Intellectual disability, autosomal recessive 3
GPathogenic
CC2D1A
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal recessive 3
GUncertain significance
CC2D1A
(T331I)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 3
GUncertain significance
CC2D1A
(D556N)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 3
GUncertain significance
CC2D1A
(A481V)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 3
GUncertain significance
CC2D1A
(A832G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CC2D1A
(P650S)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 3
GUncertain significance
CC2D1A
(R575H)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 3
GUncertain significance
CC2D1A
(R181H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CC2D1A
(D656N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CC2D1A
(G898fs)
Deletion
(frameshift variant)
Intellectual disability, autosomal recessive 3
GPathogenic
CC2D1A
(P542fs)
Duplication
(frameshift variant)
Intellectual disability, autosomal recessive 3
GLikely pathogenic
CC2D1A
(R720H)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 3
GUncertain significance
CC2D1A
(R358W)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 3
GUncertain significance
CC2D1A
(R164W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CC2D1A
(D926H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CC2D1A
(P467A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
CC2D1A
(E109K)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 3
GUncertain significance
CC2D1A
(A154T)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 3
+1 more
GUncertain significance
CC2D1A
(Q365H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CC2D1A
(V449M)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
CC2D1A
Single nucleotide variant
(splice acceptor variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CC2D1A
Duplication
(inframe_insertion)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
CC2D1A
(M533V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CC2D1A
Microsatellite
(inframe_deletion)
not provided
+1 more
GUncertain significance
CC2D1A
(R886H)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
CC2D1A
Single nucleotide variant
(splice donor variant)
Intellectual disability
+2 more
GPathogenic
CC2D1A
(A333T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
CC2D1A
(R922C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
CC2D1A
(G781A)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CC2D1A
(R683Q)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 3
+3 more
GConflicting classifications of pathogenicity
CC2D1A
(P483H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CC2D1A
(S475L)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CC2D1A
(I412V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CC2D1A
(S327L)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
CC2D1A
(A189V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
CC2D1A
(A906T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign
CC2D1A
(R903W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CC2D1A
(T801M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign
CC2D1A
(T580I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CC2D1A
(V398M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CC2D1A, LOC129391070
Deletion
(splice acceptor variant +1 more)
Intellectual disability, autosomal recessive 3
GPathogenic
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