U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 376

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTDP1
(E2D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTDP1
(A5V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTDP1
(A5D)
Single nucleotide variant
(missense variant)
not provided
GBenign
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTDP1
(P10S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTDP1
(P15S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTDP1
(T16P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTDP1
(A20S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTDP1
(A20T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTDP1
(C24F)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CTDP1
(P25S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTDP1
(G26E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTDP1
(R31L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTDP1
(E34D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTDP1
(A38V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTDP1
(G46S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTDP1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTDP1
(A54S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTDP1
(A56T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTDP1
(S57C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTDP1
(A58S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CTDP1
(Q59E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTDP1
(S61A)
Single nucleotide variant
(missense variant)
Congenital cataracts-facial dysmorphism-neuropathy syndrome
+2 more
GBenign
CTDP1
(G62R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTDP1
(G62E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
CTDP1
(A63S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTDP1
(S64P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTDP1
(A69D)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTDP1
(G71E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTDP1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
CTDP1
(G72D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CTDP1
(V74L)
Single nucleotide variant
(missense variant)
Congenital cataracts-facial dysmorphism-neuropathy syndrome
+1 more
GUncertain significance
CTDP1
(R75C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CTDP1
(P76R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTDP1
(R78W)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTDP1
(P79S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTDP1
(P79L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTDP1
(S85L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTDP1
(V90M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTDP1
(R92Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTDP1
(E93Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTDP1
(L94M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CTDP1
(Q100R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTDP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTDP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTDP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTDP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTDP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTDP1
Duplication
(intron variant)
not provided
GBenign
CTDP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTDP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTDP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTDP1
Single nucleotide variant
(intron variant)
not provided
GBenign
CTDP1
(A106V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
CTDP1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
CTDP1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
CTDP1
(V109M)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
CTDP1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
CTDP1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CTDP1
(C127Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTDP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTDP1
(Q133R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CTDP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTDP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTDP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTDP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTDP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
Format
Items per page
Sort by
Choose Destination