U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 57

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPEN
(P2055fs)
Deletion
(frameshift variant)
Radio-Tartaglia syndrome
GPathogenic
SPEN, SPEN-AS1
(E24K)
Single nucleotide variant
(missense variant +1 more)
Radio-Tartaglia syndrome
GUncertain significance
SPEN
(A307G)
Single nucleotide variant
(missense variant)
Radio-Tartaglia syndrome
GUncertain significance
SPEN
(Q321*)
Single nucleotide variant
(nonsense)
Radio-Tartaglia syndrome
GLikely pathogenic
SPEN
(S3003*)
Single nucleotide variant
(nonsense)
Radio-Tartaglia syndrome
GPathogenic
SPEN
Single nucleotide variant
(intron variant)
Radio-Tartaglia syndrome
GBenign
SPEN
(V3217L)
Single nucleotide variant
(missense variant)
Radio-Tartaglia syndrome
GUncertain significance
SPEN
(Q2396*)
Single nucleotide variant
(nonsense)
Radio-Tartaglia syndrome
GLikely pathogenic
SPEN
(R1205C)
Single nucleotide variant
(missense variant)
Radio-Tartaglia syndrome
GUncertain significance
SPEN
(Q1520*)
Single nucleotide variant
(nonsense)
Radio-Tartaglia syndrome
GLikely pathogenic
SPEN
(D649fs)
Deletion
(frameshift variant)
Radio-Tartaglia syndrome
GLikely pathogenic
SPEN
(S3275fs)
Deletion
(frameshift variant)
Radio-Tartaglia syndrome
GLikely pathogenic
SPEN
(L3150V)
Single nucleotide variant
(missense variant)
Radio-Tartaglia syndrome
GUncertain significance
SPEN
(Y2543C)
Single nucleotide variant
(missense variant)
Radio-Tartaglia syndrome
GUncertain significance
SPEN
(D2606E)
Single nucleotide variant
(missense variant)
Radio-Tartaglia syndrome
GUncertain significance
SPEN
(T3339A)
Single nucleotide variant
(missense variant)
Radio-Tartaglia syndrome
GUncertain significance
SPEN
(C1134S)
Single nucleotide variant
(missense variant)
Radio-Tartaglia syndrome
GUncertain significance
SPEN
(P1296A)
Single nucleotide variant
(missense variant)
Radio-Tartaglia syndrome
GUncertain significance
SPEN
(I37V)
Single nucleotide variant
(missense variant)
Radio-Tartaglia syndrome
GUncertain significance
SPEN
(A2736V)
Single nucleotide variant
(missense variant)
Radio-Tartaglia syndrome
GUncertain significance
SPEN
(L3540V)
Single nucleotide variant
(missense variant)
Radio-Tartaglia syndrome
GUncertain significance
SPEN
(S1103A)
Single nucleotide variant
(missense variant)
Radio-Tartaglia syndrome
GUncertain significance
SPEN
Duplication
(inframe_insertion)
Radio-Tartaglia syndrome
GUncertain significance
SPEN
(P2468L)
Single nucleotide variant
(missense variant)
Radio-Tartaglia syndrome
GUncertain significance
SPEN
(P2127L)
Single nucleotide variant
(missense variant)
Radio-Tartaglia syndrome
GUncertain significance
SPEN
(T2996I)
Single nucleotide variant
(missense variant)
Radio-Tartaglia syndrome
GUncertain significance
SPEN
(E1720D)
Single nucleotide variant
(missense variant)
Radio-Tartaglia syndrome
GUncertain significance
SPEN
(E1965K)
Single nucleotide variant
(missense variant)
Radio-Tartaglia syndrome
GUncertain significance
SPEN
(T907I)
Single nucleotide variant
(missense variant)
Radio-Tartaglia syndrome
GUncertain significance
SPEN
(T2747P)
Single nucleotide variant
(missense variant)
Radio-Tartaglia syndrome
GUncertain significance
SPEN
(S2309fs)
Duplication
(frameshift variant)
Radio-Tartaglia syndrome
GPathogenic
SPEN
(S3299N)
Single nucleotide variant
(missense variant)
Radio-Tartaglia syndrome
+1 more
GUncertain significance
SPEN
(I1326M)
Single nucleotide variant
(missense variant)
Radio-Tartaglia syndrome
GUncertain significance
SPEN
(R308*)
Single nucleotide variant
(nonsense)
Radio-Tartaglia syndrome
GPathogenic
SPEN
(R3121W)
Single nucleotide variant
(missense variant)
Radio-Tartaglia syndrome
GUncertain significance
SPEN
(I2489fs)
Duplication
(frameshift variant)
Radio-Tartaglia syndrome
GPathogenic
SPEN
(R229*)
Single nucleotide variant
(nonsense)
Radio-Tartaglia syndrome
GLikely pathogenic
SPEN
(Q1610*)
Single nucleotide variant
(nonsense)
Radio-Tartaglia syndrome
GPathogenic
SPEN
(E1648fs)
Insertion
(frameshift variant)
Radio-Tartaglia syndrome
GPathogenic
SPEN
(V1637F)
Single nucleotide variant
(missense variant)
Radio-Tartaglia syndrome
GUncertain significance
SPEN
(N1856S)
Single nucleotide variant
(missense variant)
Radio-Tartaglia syndrome
+1 more
GBenign/Likely benign
SPEN
(I2596M)
Single nucleotide variant
(missense variant)
Radio-Tartaglia syndrome
GUncertain significance
SPEN
(V935fs)
Deletion
(frameshift variant)
Radio-Tartaglia syndrome
GLikely pathogenic
SPEN
(A2485T)
Single nucleotide variant
(missense variant)
Radio-Tartaglia syndrome
GUncertain significance
SPEN
(E1125Q)
Single nucleotide variant
(missense variant)
Radio-Tartaglia syndrome
GUncertain significance
SPEN
(R31H)
Single nucleotide variant
(missense variant)
Developmental disorder
+1 more
GConflicting classifications of pathogenicity
SPEN
(K1976fs)
Deletion
(frameshift variant)
Radio-Tartaglia syndrome
GLikely pathogenic
SPEN
(L1091P)
Single nucleotide variant
(missense variant)
Radio-Tartaglia syndrome
GBenign
SPEN
(R702*)
Single nucleotide variant
(nonsense)
Radio-Tartaglia syndrome
GPathogenic
SPEN
(E1449*)
Single nucleotide variant
(nonsense)
Radio-Tartaglia syndrome
GPathogenic
SPEN
(Q2382*)
Single nucleotide variant
(nonsense)
Radio-Tartaglia syndrome
GPathogenic
SPEN
(N2360D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
SPEN
(R2447fs)
Duplication
(frameshift variant)
not provided
GPathogenic
SPEN
(E2029fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SPEN
(Q2020*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
SPEN
(R1936*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
SPEN
(L2325fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
Format
Items per page
Sort by
Choose Destination