U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 154

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDAN1
(R864W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CDAN1
(R282Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CDAN1
(E176V)
Single nucleotide variant
(missense variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
(R1067H)
Single nucleotide variant
(missense variant)
Congenital dyserythropoietic anemia, type I
+1 more
GConflicting classifications of pathogenicity
LOC130056931, CDAN1
Single nucleotide variant
(synonymous variant)
Congenital dyserythropoietic anemia, type I
+1 more
GConflicting classifications of pathogenicity
CDAN1, LOC130056931
(R131H)
Single nucleotide variant
(missense variant)
Congenital dyserythropoietic anemia, type I
+1 more
GUncertain significance
CDAN1
Single nucleotide variant
(intron variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
(S234N)
Single nucleotide variant
(missense variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
Single nucleotide variant
(intron variant)
Anemia, congenital dyserythropoietic, type 1a
+2 more
GConflicting classifications of pathogenicity
CDAN1
Single nucleotide variant
(intron variant)
Congenital dyserythropoietic anemia, type I
+1 more
GConflicting classifications of pathogenicity
CDAN1
(R863C)
Single nucleotide variant
(missense variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
(V869M)
Single nucleotide variant
(missense variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
(D888H)
Single nucleotide variant
(missense variant)
Congenital dyserythropoietic anemia, type I
+2 more
GConflicting classifications of pathogenicity
CDAN1
(G909R)
Single nucleotide variant
(missense variant)
Congenital dyserythropoietic anemia, type I
+1 more
GUncertain significance
CDAN1
Single nucleotide variant
(intron variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
Single nucleotide variant
(synonymous variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
Single nucleotide variant
(intron variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
(V328I)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+3 more
GUncertain significance
CDAN1
(R335Q)
Single nucleotide variant
(missense variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
Single nucleotide variant
(synonymous variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
(P694S)
Single nucleotide variant
(missense variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CDAN1
(R722C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CDAN1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CDAN1
Single nucleotide variant
(intron variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
(G926R)
Single nucleotide variant
(missense variant)
Congenital dyserythropoietic anemia, type I
+1 more
GConflicting classifications of pathogenicity
CDAN1
(R934Q)
Single nucleotide variant
(missense variant)
Congenital dyserythropoietic anemia, type I
+2 more
GUncertain significance
CDAN1
(R946Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CDAN1
Single nucleotide variant
(3 prime UTR variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
Single nucleotide variant
(3 prime UTR variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
Single nucleotide variant
(3 prime UTR variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1, LOC130056933
Single nucleotide variant
(5 prime UTR variant)
Congenital dyserythropoietic anemia, type I
+1 more
GConflicting classifications of pathogenicity
CDAN1, LOC130056933
(R10Q)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+1 more
GUncertain significance
CDAN1
(R63H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CDAN1
Single nucleotide variant
(synonymous variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
(E414D)
Single nucleotide variant
(missense variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
Single nucleotide variant
(intron variant)
Congenital dyserythropoietic anemia, type I
+2 more
GBenign/Likely benign
CDAN1
(P528L)
Single nucleotide variant
(missense variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
(A787V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CDAN1
(R1007W)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+1 more
GUncertain significance
CDAN1
(D1045E)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+3 more
GConflicting classifications of pathogenicity
CDAN1
Single nucleotide variant
(3 prime UTR variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
Single nucleotide variant
(3 prime UTR variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
Single nucleotide variant
(3 prime UTR variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
Single nucleotide variant
(3 prime UTR variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
Single nucleotide variant
(3 prime UTR variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
Single nucleotide variant
(3 prime UTR variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
(Q67H)
Single nucleotide variant
(missense variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1, LOC130056931
(P86L)
Single nucleotide variant
(missense variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1, LOC130056931
(G92R)
Single nucleotide variant
(missense variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1, LOC130056931
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CDAN1
(E597G)
Single nucleotide variant
(missense variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
(P608S)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+2 more
GUncertain significance
CDAN1
(F639L)
Single nucleotide variant
(missense variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
(P655L)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+1 more
GUncertain significance
CDAN1
Single nucleotide variant
(synonymous variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
(G822S)
Single nucleotide variant
(missense variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
Single nucleotide variant
(intron variant)
Congenital dyserythropoietic anemia, type I
+1 more
GConflicting classifications of pathogenicity
CDAN1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CDAN1
(T1063M)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+2 more
GUncertain significance
CDAN1
Single nucleotide variant
(intron variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
(P1073S)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+2 more
GUncertain significance
CDAN1
Single nucleotide variant
(synonymous variant)
Congenital dyserythropoietic anemia, type I
+1 more
GUncertain significance
CDAN1
(V1090L)
Single nucleotide variant
(missense variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
Single nucleotide variant
(3 prime UTR variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
(A689E)
Single nucleotide variant
(missense variant)
Congenital dyserythropoietic anemia, type I
GLikely pathogenic
CDAN1
Single nucleotide variant
(synonymous variant)
CDAN1-related condition
+3 more
GBenign/Likely benign
CDAN1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CDAN1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CDAN1
Single nucleotide variant
(synonymous variant)
CDAN1-related condition
+3 more
GConflicting classifications of pathogenicity
CDAN1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CDAN1
Single nucleotide variant
(intron variant)
Congenital dyserythropoietic anemia, type I
+1 more
GConflicting classifications of pathogenicity
CDAN1
(E356K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
CDAN1
Single nucleotide variant
(intron variant)
CDAN1-related condition
+2 more
GConflicting classifications of pathogenicity
CDAN1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CDAN1
(R725W)
Single nucleotide variant
(missense variant)
Congenital dyserythropoietic anemia, type I
+1 more
GPathogenic/Likely pathogenic
CDAN1
(Q847*)
Single nucleotide variant
(nonsense)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
(V866fs)
Duplication
(frameshift variant)
not provided
+1 more
GUncertain significance
LOC130056933, CDAN1
Single nucleotide variant
(5 prime UTR variant)
Congenital dyserythropoietic anemia, type I
+1 more
GConflicting classifications of pathogenicity
CDAN1, LOC130056933
Single nucleotide variant
(5 prime UTR variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
Single nucleotide variant
(synonymous variant)
Congenital dyserythropoietic anemia, type I
+1 more
GConflicting classifications of pathogenicity
CDAN1
Single nucleotide variant
(synonymous variant)
Anemia, congenital dyserythropoietic, type 1a
+2 more
GBenign/Likely benign
CDAN1, LOC130056931
Single nucleotide variant
(synonymous variant)
Congenital dyserythropoietic anemia, type I
+2 more
GBenign/Likely benign
CDAN1, LOC130056931
Single nucleotide variant
(synonymous variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1, LOC130056931
(P86S)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+2 more
GConflicting classifications of pathogenicity
CDAN1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
CDAN1
Single nucleotide variant
(intron variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
Single nucleotide variant
(intron variant)
Congenital dyserythropoietic anemia, type I
+1 more
GConflicting classifications of pathogenicity
CDAN1
(A441V)
Single nucleotide variant
(missense variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
CDAN1
Single nucleotide variant
(intron variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
(D589G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CDAN1
Single nucleotide variant
(synonymous variant)
Congenital dyserythropoietic anemia, type I
+1 more
GConflicting classifications of pathogenicity
CDAN1
(T656S)
Single nucleotide variant
(missense variant)
CDAN1-related condition
+3 more
GLikely benign
CDAN1
Single nucleotide variant
(synonymous variant)
Anemia, congenital dyserythropoietic, type 1a
+2 more
GBenign
CDAN1
Single nucleotide variant
(intron variant)
Congenital dyserythropoietic anemia, type I
GUncertain significance
CDAN1
Single nucleotide variant
(intron variant)
Congenital dyserythropoietic anemia, type I
+1 more
GConflicting classifications of pathogenicity
CDAN1
Single nucleotide variant
(synonymous variant)
Anemia, congenital dyserythropoietic, type 1a
+2 more
GConflicting classifications of pathogenicity
CDAN1
(R687C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CDAN1
(S733R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination