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Items: 1 to 100 of 101

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DCDC2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
DCDC2
Insertion
(3 prime UTR variant)
not provided
GBenign
DCDC2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
DCDC2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
DCDC2
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
DCDC2
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
DCDC2
(V475M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DCDC2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
DCDC2
(K456N)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 66
+3 more
GBenign
DCDC2
(P450T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCDC2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DCDC2
Single nucleotide variant
(intron variant)
not provided
GBenign
DCDC2
Single nucleotide variant
(intron variant)
not provided
GBenign
DCDC2
Deletion
(intron variant)
not provided
GBenign
DCDC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DCDC2
Single nucleotide variant
(intron variant)
not provided
GBenign
DCDC2
Single nucleotide variant
(intron variant)
not provided
GBenign
DCDC2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
DCDC2
(R403H)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 66
+3 more
GBenign/Likely benign
DCDC2
(R400H)
Single nucleotide variant
(missense variant)
Isolated neonatal sclerosing cholangitis
+3 more
GConflicting classifications of pathogenicity
DCDC2
(D383H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
DCDC2
(S367T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DCDC2
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 66
+4 more
GBenign/Likely benign
DCDC2
(P343L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCDC2
Single nucleotide variant
(intron variant)
not provided
GBenign
DCDC2
Single nucleotide variant
(intron variant)
not provided
GBenign
DCDC2
Single nucleotide variant
(intron variant)
not provided
GBenign
DCDC2
Single nucleotide variant
(intron variant)
not provided
GBenign
DCDC2
Single nucleotide variant
(intron variant)
not provided
GBenign
DCDC2
Duplication
(intron variant)
not provided
GBenign
DCDC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DCDC2
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 66
+3 more
GBenign
DCDC2
(V337L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCDC2
(G323R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
DCDC2
(G310A)
Single nucleotide variant
(missense variant)
Isolated neonatal sclerosing cholangitis
+2 more
GUncertain significance
DCDC2
Single nucleotide variant
(intron variant)
not provided
GBenign
DCDC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DCDC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DCDC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DCDC2
Single nucleotide variant
(intron variant)
not provided
GBenign
DCDC2
Deletion
(intron variant)
not provided
GBenign
DCDC2
Single nucleotide variant
(intron variant)
not provided
GBenign
DCDC2
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 66
+4 more
GBenign/Likely benign
DCDC2
(E281del)
Microsatellite
(inframe_deletion)
Isolated neonatal sclerosing cholangitis
+4 more
GUncertain significance
DCDC2
(P273S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
DCDC2
(R257H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
DCDC2
Single nucleotide variant
(intron variant)
not provided
GBenign
DCDC2, GPLD1
+5 more
Copy number loss
See cases
GUncertain significance
DCDC2
Single nucleotide variant
(intron variant)
not provided
GBenign
DCDC2
(S253C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCDC2
Single nucleotide variant
(synonymous variant)
Isolated neonatal sclerosing cholangitis
+2 more
GConflicting classifications of pathogenicity
DCDC2
(S239A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DCDC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DCDC2
Single nucleotide variant
(intron variant)
not provided
GBenign
DCDC2
Duplication
(intron variant)
not provided
GBenign
DCDC2
(S221G)
Single nucleotide variant
(missense variant)
Nephronophthisis 19
+3 more
GBenign
DCDC2
(K217I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCDC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DCDC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DCDC2
Single nucleotide variant
(intron variant)
not provided
GBenign
DCDC2
(I177fs)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 66
+2 more
GPathogenic
DCDC2
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
DCDC2
(L156H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DCDC2
(P152A)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 66
+3 more
GBenign
DCDC2
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 66
+3 more
GBenign
DCDC2
Single nucleotide variant
(intron variant)
not provided
GBenign
DCDC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DCDC2
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 66
+2 more
GBenign
DCDC2
Single nucleotide variant
(synonymous variant)
Isolated neonatal sclerosing cholangitis
+2 more
GConflicting classifications of pathogenicity
DCDC2
(P134L)
Single nucleotide variant
(missense variant)
Isolated neonatal sclerosing cholangitis
+2 more
GUncertain significance
DCDC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DCDC2
Duplication
(intron variant)
not provided
GBenign
DCDC2
Duplication
(intron variant)
not provided
GBenign
DCDC2
Duplication
(intron variant)
not provided
GBenign
DCDC2
Insertion
(intron variant)
not provided
GLikely benign
DCDC2
Deletion
(intron variant)
not provided
GBenign
DCDC2
Deletion
(intron variant)
not provided
GLikely benign
DCDC2
Insertion
(intron variant)
not provided
GBenign
DCDC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DCDC2
Single nucleotide variant
(intron variant)
not provided
GBenign
DCDC2
Single nucleotide variant
(intron variant)
not provided
GBenign
DCDC2
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
DCDC2
Microsatellite
(intron variant)
Autosomal recessive nonsyndromic hearing loss 66
+3 more
GBenign
DCDC2
Deletion
(intron variant)
not provided
GBenign
DCDC2
Single nucleotide variant
(intron variant)
not provided
GBenign
DCDC2, KAAG1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DCDC2, KAAG1
(G83R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCDC2, KAAG1
(D78H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCDC2, KAAG1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
DCDC2, KAAG1
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 66
+2 more
GBenign
DCDC2, KAAG1
(K49Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
DCDC2, KAAG1
(R23L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DCDC2, KAAG1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
DCDC2, KAAG1
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
DCDC2, KAAG1
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
DCDC2, KAAG1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
DCDC2, KAAG1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
DCDC2, KAAG1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
DCDC2, KAAG1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
DCDC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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