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Links from MedGen

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADCK2, AGBL3
+105 more
Copy number loss
Small face
+7 more
GPathogenic
MDK, AMBRA1
+4 more
Duplication
Short philtrum
+4 more
GUncertain significance
NF1
(A2016T +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
+5 more
GConflicting classifications of pathogenicity
ASXL1
(E222K)
Single nucleotide variant
(intron variant +1 more)
not provided
+6 more
GUncertain significance
SYNGAP1, SYNGAP1-AS1
(R687*)
Single nucleotide variant
(nonsense)
Pointed chin
+15 more
GPathogenic/Likely pathogenic
DEAF1
(G223S)
Single nucleotide variant
(5 prime UTR variant +2 more)
Intellectual disability-epilepsy-extrapyramidal syndrome
+1 more
GConflicting classifications of pathogenicity
Complex
Setting-sun eye phenomenon
+16 more
GPathogenic
GNB1
(I80N)
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal dominant 42
+2 more
GPathogenic
GNB1
(K78R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, autosomal dominant 42
+3 more
GPathogenic/Likely pathogenic
GNB1
(D76G)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GPathogenic
PMPCA
(G356S +2 more)
Single nucleotide variant
(missense variant)
Global brain atrophy
+12 more
GPathogenic
PMPCA
(A377T +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 2
+13 more
GPathogenic
TMEM67
(R360C +1 more)
Single nucleotide variant
(missense variant +1 more)
Meckel syndrome, type 3
+23 more
GConflicting classifications of pathogenicity
C1QTNF9, C1QTNF9B
+6 more
Copy number loss
Cardiomyopathy
+2 more
GPathogenic
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)
Cardiomyopathy
+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
TMEM67
(C615R +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+26 more
GPathogenic/Likely pathogenic
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