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Links from MedGen

Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MIPEP
(D168A)
Single nucleotide variant
(missense variant)
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
GUncertain significance
MIPEP
(W618*)
Single nucleotide variant
(nonsense)
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
GLikely pathogenic
MIPEP
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
MIPEP
(E713K)
Single nucleotide variant
(missense variant)
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
GUncertain significance
MIPEP
(Q103H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MIPEP
(G297A)
Single nucleotide variant
(missense variant)
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
GLikely pathogenic
MIPEP
(S488G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
MIPEP
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MIPEP
(L420P)
Single nucleotide variant
(missense variant)
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
GLikely pathogenic
MIPEP
(R509H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MIPEP
(I452L)
Single nucleotide variant
(missense variant)
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
+1 more
GConflicting classifications of pathogenicity
MIPEP
(F336L)
Single nucleotide variant
(missense variant)
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
GUncertain significance
MIPEP, PCOTH
(A14T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MIPEP
(A570T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MIPEP
(V364M)
Single nucleotide variant
(missense variant)
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
GUncertain significance
MIPEP
(G363V)
Single nucleotide variant
(missense variant)
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
GUncertain significance
MIPEP
Single nucleotide variant
(splice donor variant)
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
GLikely pathogenic
MIPEP
(R202C)
Single nucleotide variant
(missense variant)
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
GUncertain significance
MIPEP
(R181*)
Single nucleotide variant
(nonsense)
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
GLikely pathogenic
MIPEP
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
MIPEP
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
MIPEP
(M557T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MIPEP
(R560H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LOC130009384, LOC130009385
+1 more
Deletion
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
GLikely pathogenic
MIPEP
(D120N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
LOC130009386, MIPEP
Deletion
(splice acceptor variant +1 more)
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
GPathogenic
MIPEP
(L162W)
Single nucleotide variant
(missense variant)
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
GUncertain significance
MIPEP
(L197P)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
MIPEP
(G682D)
Single nucleotide variant
(missense variant)
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
+2 more
GUncertain significance
MIPEP
(H512D)
Single nucleotide variant
(missense variant)
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
+3 more
GConflicting classifications of pathogenicity
MIPEP
(K343E)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
MIPEP
(E602*)
Single nucleotide variant
(nonsense)
Cardiomyopathy
+2 more
GPathogenic
MIPEP
(L306F)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MIPEP
(L71Q)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
MIPEP
(L582R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
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