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Items: 1 to 100 of 117

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTC1, APBA2
+363 more
Copy number gain
See cases
GPathogenic
ACTC1, APBA2
+346 more
Copy number loss
See cases
GPathogenic
SNORD115-20, SNORD115-21
+314 more
Copy number loss
See cases
GPathogenic
LOC132090301, LOC132090302
+178 more
Copy number loss
See cases
GPathogenic
ACTC1, AQR
+219 more
Copy number loss
See cases
GPathogenic
ACTC1, AQR
+99 more
Copy number loss
See cases
GPathogenic
CDIN1, DPH6
+92 more
Copy number loss
See cases
GPathogenic
CDIN1, LINC02345
+25 more
Copy number gain
See cases
GUncertain significance
CDIN1
Single nucleotide variant
not provided
GBenign
CDIN1
Single nucleotide variant
not provided
GBenign
CDIN1
Single nucleotide variant
not provided
GBenign
CDIN1
Single nucleotide variant
not provided
GBenign
CDIN1, LOC130056772
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
CDIN1
(D9G)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
CDIN1
Single nucleotide variant
(synonymous variant +1 more)
CDIN1-related condition
+1 more
GLikely benign
CDIN1
(V16M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDIN1
(P20R)
Single nucleotide variant
(missense variant +1 more)
Congenital dyserythropoietic anemia type type 1B
GUncertain significance
CDIN1
(P33L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CDIN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDIN1
Single nucleotide variant
(intron variant)
not provided
GBenign
CDIN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDIN1
(A38P)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
CDIN1
Single nucleotide variant
(intron variant +2 more)
not provided
GLikely benign
CDIN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDIN1
Single nucleotide variant
(intron variant)
not provided
GBenign
CDIN1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CDIN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDIN1
Duplication
(intron variant)
not provided
GBenign
CDIN1
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
CDIN1
(I52S)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CDIN1
(H59R)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
CDIN1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CDIN1
(S62L)
Single nucleotide variant
(missense variant +2 more)
CDIN1-related condition
+1 more
GLikely benign
CDIN1
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GBenign
CDIN1
(Y69C)
Single nucleotide variant
(missense variant +2 more)
Congenital dyserythropoietic anemia type type 1B
GUncertain significance
CDIN1
Single nucleotide variant
(intron variant)
not provided
GBenign
CDIN1
Microsatellite
(intron variant)
not provided
GBenign
CDIN1
Microsatellite
(intron variant)
not provided
GBenign
CDIN1
Single nucleotide variant
(intron variant)
not provided
GBenign
CDIN1
Single nucleotide variant
(intron variant)
not provided
GBenign
CDIN1
(L73V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
CDIN1
(P46L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDIN1
(D50fs +1 more)
Deletion
(5 prime UTR variant +1 more)
not provided
GUncertain significance
CDIN1
(N90S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDIN1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CDIN1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CDIN1
(Y57S +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital dyserythropoietic anemia type type 1B
+1 more
GConflicting classifications of pathogenicity
CDIN1
(Y94C +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital dyserythropoietic anemia type type 1B
GLikely pathogenic
CDIN1
(A100S +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital dyserythropoietic anemia type type 1B
GUncertain significance
CDIN1
(I103L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDIN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CDIN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDIN1
Single nucleotide variant
(intron variant)
not provided
GBenign
CDIN1
(G11V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDIN1
(Q102E +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDIN1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
CDIN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDIN1
Single nucleotide variant
(intron variant)
not provided
GBenign
CDIN1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
CDIN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDIN1
(I107V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDIN1
(D24N +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDIN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDIN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDIN1
Single nucleotide variant
(intron variant)
Congenital dyserythropoietic anemia type type 1B
+1 more
GBenign
CDIN1
Single nucleotide variant
(intron variant)
not provided
GBenign
CDIN1
Deletion
(intron variant)
not provided
GBenign
CDIN1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CDIN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDIN1
Duplication
(intron variant)
not provided
GLikely benign
CDIN1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CDIN1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
CDIN1
(L178Q +3 more)
Single nucleotide variant
(missense variant)
Congenital dyserythropoietic anemia type type 1B
GLikely pathogenic
CDIN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDIN1
Single nucleotide variant
(intron variant)
not provided
GBenign
CDIN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDIN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDIN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDIN1
(R150P +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDIN1
(V105F +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDIN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDIN1
Microsatellite
(intron variant)
not provided
GLikely benign
CDIN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDIN1
Single nucleotide variant
(intron variant)
not provided
GBenign
CDIN1
Single nucleotide variant
(intron variant)
not provided
GBenign
CDIN1
Single nucleotide variant
(intron variant)
not provided
GBenign
CDIN1
Single nucleotide variant
(intron variant)
not provided
GBenign
CDIN1
(G109E +4 more)
Single nucleotide variant
(missense variant +1 more)
Congenital dyserythropoietic anemia type type 1B
GUncertain significance
CDIN1
(H107P +4 more)
Single nucleotide variant
(missense variant +1 more)
Congenital dyserythropoietic anemia type type 1B
GLikely pathogenic
CDIN1
(Y113C +4 more)
Single nucleotide variant
(missense variant +1 more)
Congenital dyserythropoietic anemia type type 1B
GUncertain significance
CDIN1
Insertion
(intron variant)
not provided
GBenign
CDIN1
Duplication
(intron variant)
not provided
GBenign
CDIN1
Deletion
(intron variant)
not provided
GBenign
CDIN1
Single nucleotide variant
(intron variant)
not provided
GBenign
CDIN1
Single nucleotide variant
(intron variant)
not provided
GBenign
CDIN1
(S256R)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CDIN1
(G206fs +5 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
CDIN1
(Y210C +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDIN1
(R136W +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDIN1
(R265Q +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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