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Items: 1 to 100 of 177

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDAN1
(V462M)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(A230T)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
Deletion
(intron variant)
Anemia, congenital dyserythropoietic, type 1a
GLikely benign
CDAN1, LOC130056931
(E105K)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
Deletion
(nonsense)
Anemia, congenital dyserythropoietic, type 1a
GPathogenic
CDAN1
(M533fs)
Duplication
(frameshift variant)
Anemia, congenital dyserythropoietic, type 1a
GPathogenic
CDAN1
(L729S)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
Single nucleotide variant
(intron variant)
Anemia, congenital dyserythropoietic, type 1a
GLikely benign
CDAN1
(E935G)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+1 more
GUncertain significance
CDAN1
Microsatellite
(intron variant)
Anemia, congenital dyserythropoietic, type 1a
+1 more
GLikely benign
CDAN1
(I802fs)
Duplication
(frameshift variant)
Anemia, congenital dyserythropoietic, type 1a
GLikely pathogenic
CDAN1, LOC130056931
(G77fs)
Deletion
(frameshift variant)
Anemia, congenital dyserythropoietic, type 1a
GLikely pathogenic
CDAN1
(S297Y)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(A965S)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(S555G)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+1 more
GUncertain significance
CDAN1
(E1009G)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(D529E)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(A536P)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(F1199L)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(S1036P)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(R1220W)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(E1202K)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(Q264P)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(R682Q)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(R687H)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(N1139T)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+1 more
GUncertain significance
CDAN1
(T26I)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(R1010G)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(A992V)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(N786S)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+1 more
GUncertain significance
CDAN1
(K74N)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(E1046K)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+1 more
GUncertain significance
CDAN1
(L729V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CDAN1, LOC130056932
(L45P)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(R295fs)
Microsatellite
(frameshift variant)
Anemia, congenital dyserythropoietic, type 1a
GLikely pathogenic
CDAN1
(G1098fs)
Duplication
(frameshift variant)
Anemia, congenital dyserythropoietic, type 1a
GLikely pathogenic
CDAN1
(L762S)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+2 more
GUncertain significance
CDAN1
(E394K)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
Duplication
(splice donor variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(V380L)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1, LOC130056931
(G155S)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
Single nucleotide variant
(synonymous variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(S183L)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(R1159Q)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(E607K)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(G1040E)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+1 more
GUncertain significance
CDAN1
(T884P)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(A983P)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(A810T)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1, LOC130056931
(T165M)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+1 more
GUncertain significance
CDAN1
(R688W)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GConflicting classifications of pathogenicity
CDAN1
(R891H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CDAN1
(P561S)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(P268R)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(E30Q)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(A999T)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+1 more
GUncertain significance
CDAN1
(P954L)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+1 more
GUncertain significance
CDAN1
(K260R)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(S483N)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(R995L)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(S592N)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(N980S)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(R282W)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(R447Q)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(R1067C)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(Q263fs)
Deletion
(frameshift variant)
Anemia, congenital dyserythropoietic, type 1a
GLikely pathogenic
CDAN1
Single nucleotide variant
(synonymous variant)
Anemia, congenital dyserythropoietic, type 1a
GLikely benign
CDAN1
Single nucleotide variant
(intron variant)
Anemia, congenital dyserythropoietic, type 1a
GLikely benign
CDAN1
Single nucleotide variant
(synonymous variant)
Anemia, congenital dyserythropoietic, type 1a
+1 more
GLikely benign
CDAN1
(G187S)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+1 more
GUncertain significance
CDAN1
(L862S)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+1 more
GUncertain significance
CDAN1
(P76A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CDAN1
(P1100L)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+2 more
GUncertain significance
CDAN1
(E732K)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+1 more
GUncertain significance
CDAN1
Single nucleotide variant
(synonymous variant)
Anemia, congenital dyserythropoietic, type 1a
+1 more
GBenign/Likely benign
CDAN1
Single nucleotide variant
(synonymous variant)
Anemia, congenital dyserythropoietic, type 1a
+1 more
GBenign/Likely benign
CDAN1
(R572T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CDAN1
(N963D)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+1 more
GUncertain significance
CDAN1, LOC130056931
Single nucleotide variant
(synonymous variant)
Anemia, congenital dyserythropoietic, type 1a
+1 more
GLikely benign
CDAN1
(A887V)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(M588T)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+1 more
GUncertain significance
CDAN1
(P186R)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(D704N)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(R677W)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+1 more
GUncertain significance
CDAN1
(L696Q)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GPathogenic
CDAN1, LOC130056931
(S93N)
Indel
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+1 more
GUncertain significance
CDAN1
(T283R)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
Single nucleotide variant
(intron variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1, LOC130056932
Single nucleotide variant
(synonymous variant)
Anemia, congenital dyserythropoietic, type 1a
+1 more
GLikely benign
CDAN1
(R934W)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+3 more
GUncertain significance
CDAN1
(P1128L)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+1 more
GUncertain significance
CDAN1
Single nucleotide variant
(intron variant)
Anemia, congenital dyserythropoietic, type 1a
+1 more
GUncertain significance
CDAN1
Single nucleotide variant
(synonymous variant)
Anemia, congenital dyserythropoietic, type 1a
GLikely benign
CDAN1
Single nucleotide variant
(synonymous variant)
Anemia, congenital dyserythropoietic, type 1a
GLikely benign
CDAN1
(R503W)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+1 more
GUncertain significance
CDAN1
(N609S)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
GUncertain significance
CDAN1
(V945L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CDAN1
Single nucleotide variant
(intron variant)
Anemia, congenital dyserythropoietic, type 1a
+1 more
GConflicting classifications of pathogenicity
CDAN1
(E1106K)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+1 more
GUncertain significance
CDAN1
(A1016T)
Single nucleotide variant
(missense variant)
Anemia, congenital dyserythropoietic, type 1a
+1 more
GBenign/Likely benign
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