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Links from MedGen

Items: 39

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MN1
Microsatellite
(inframe_insertion)
CEBALID syndrome
GUncertain significance
MN1
(Y235fs)
Deletion
(frameshift variant)
CEBALID syndrome
GUncertain significance
MN1
(G716R)
Single nucleotide variant
(missense variant)
CEBALID syndrome
GUncertain significance
MN1
(E163*)
Single nucleotide variant
(nonsense)
CEBALID syndrome
GLikely pathogenic
MN1
(K455*)
Single nucleotide variant
(nonsense)
CEBALID syndrome
GLikely pathogenic
MN1
(P1265fs)
Deletion
(frameshift variant)
CEBALID syndrome
GPathogenic
MN1
(G1275fs)
Deletion
(frameshift variant)
CEBALID syndrome
GLikely pathogenic
MN1
(E1222V)
Single nucleotide variant
(missense variant)
CEBALID syndrome
GUncertain significance
MN1
(Q822*)
Single nucleotide variant
(nonsense)
CEBALID syndrome
GPathogenic
MN1
(W1248*)
Single nucleotide variant
(nonsense)
CEBALID syndrome
GPathogenic/Likely pathogenic
MN1
(A1318D)
Single nucleotide variant
(missense variant)
CEBALID syndrome
GLikely pathogenic
MN1
(S928L)
Single nucleotide variant
(missense variant)
CEBALID syndrome
GUncertain significance
MN1
(A871V)
Single nucleotide variant
(missense variant)
CEBALID syndrome
GUncertain significance
MN1
Single nucleotide variant
(synonymous variant)
CEBALID syndrome
GUncertain significance
MN1
(G19A)
Single nucleotide variant
(missense variant)
CEBALID syndrome
Gnot provided
MN1
(W1227*)
Single nucleotide variant
(nonsense)
CEBALID syndrome
GLikely pathogenic
MN1
(P639T)
Single nucleotide variant
(missense variant)
CEBALID syndrome
GUncertain significance
MN1
(C1185*)
Single nucleotide variant
(nonsense)
CEBALID syndrome
GPathogenic
MN1
(W1301fs)
Deletion
(frameshift variant)
CEBALID syndrome
GPathogenic
MTOR
(I2501F)
Single nucleotide variant
(missense variant)
CEBALID syndrome
GPathogenic
MTOR
(I2017T)
Single nucleotide variant
(missense variant)
CEBALID syndrome
GLikely pathogenic
MTOR
(A1519V)
Single nucleotide variant
(missense variant)
CEBALID syndrome
GLikely pathogenic
MTOR
(K1452N)
Single nucleotide variant
(missense variant)
CEBALID syndrome
GLikely pathogenic
MN1
(E1260*)
Single nucleotide variant
(nonsense)
CEBALID syndrome
+1 more
GConflicting classifications of pathogenicity
MN1
(S472*)
Single nucleotide variant
(nonsense)
CEBALID syndrome
GPathogenic
MTOR
(A1519T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MN1
(V1283fs)
Microsatellite
(frameshift variant)
CEBALID syndrome
GPathogenic
MN1
(Q1279*)
Single nucleotide variant
(nonsense)
CEBALID syndrome
GPathogenic
MN1
(A1294*)
Duplication
(nonsense)
MN1 C-terminal truncation (MCTT) syndrome
+1 more
GPathogenic/Likely pathogenic
MN1
(Q1273*)
Single nucleotide variant
(nonsense)
CEBALID syndrome
GPathogenic
MN1
(E1249*)
Single nucleotide variant
(nonsense)
CEBALID syndrome
GLikely pathogenic
MN1
(W1301*)
Single nucleotide variant
(nonsense)
CEBALID syndrome
+1 more
GConflicting classifications of pathogenicity
MTOR
(T1977I)
Single nucleotide variant
(missense variant)
CEBALID syndrome
+3 more
GPathogenic
MTOR
(S2413I)
Single nucleotide variant
(missense variant)
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
+1 more
GPathogenic
MTOR
(L2427P)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GPathogenic
MTOR
(C1483Y)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GPathogenic
MTOR
(E1799K)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic
MTOR
(E2419K)
Single nucleotide variant
(missense variant)
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
+2 more
GPathogenic
MN1
(R1295*)
Single nucleotide variant
(nonsense)
not specified
+3 more
GConflicting classifications of pathogenicity
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