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Links from MedGen

Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACOT9, APOO
+113 more
Copy number gain
Polymicrogyria
GPathogenic
PSMC3
(R304W)
Single nucleotide variant
(missense variant)
Microcephaly
+11 more
GPathogenic
OFD1
Single nucleotide variant
(splice donor variant)
Ventriculomegaly
+2 more
GLikely pathogenic
PEX1
(I707T +2 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
+5 more
GUncertain significance
SETD5
Single nucleotide variant
(splice donor variant)
Polymicrogyria
GLikely pathogenic
DHX37
(D382G)
Single nucleotide variant
(missense variant)
Intellectual disability
+9 more
GLikely pathogenic
LOC102724058, SCN1A
(S1110fs +5 more)
Duplication
(non-coding transcript variant +1 more)
Polymicrogyria
+11 more
GPathogenic
NR2F1, NR2F1-AS1
(C89R)
Single nucleotide variant
(missense variant)
Polyphagia
+12 more
GUncertain significance
ATP1A2
(I100fs)
Microsatellite
(frameshift variant)
Polymicrogyria
GPathogenic
ATP1A2
(E957*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
LAMA5
(D2372N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LAMA5
(E3576K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LINGO4
(S284F)
Single nucleotide variant
(missense variant)
Polymicrogyria
GUncertain significance
LINGO4
(R421Q)
Single nucleotide variant
(missense variant)
Polymicrogyria
GUncertain significance
TUBA1A
(E434del +1 more)
Microsatellite
(inframe_deletion)
Inborn genetic diseases
+1 more
GUncertain significance
ENTPD1, ENTPD1-AS1
(V16M +2 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary spastic paraplegia 64
+4 more
GUncertain significance
EHMT1
Single nucleotide variant
(splice donor variant)
not provided
+5 more
GPathogenic
SCN3A
(I875T +1 more)
Single nucleotide variant
(missense variant)
Epilepsy, familial focal, with variable foci 4
+3 more
GPathogenic/Likely pathogenic
DYNC1H1
(I601N)
Single nucleotide variant
(missense variant)
Polymicrogyria
+3 more
GLikely pathogenic
LAMA2
(E1727Q)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to partial LAMA2 deficiency
+5 more
GUncertain significance
Translocation
Polymicrogyria
+10 more
GUncertain significance
BORCS5
Single nucleotide variant
(splice acceptor variant)
Abnormal cerebral cortex morphology
+5 more
GLikely pathogenic
LAMA2
(R1844S)
Single nucleotide variant
(missense variant)
LAMA2-related muscular dystrophy
+5 more
GConflicting classifications of pathogenicity
AKT3
(R465W)
Single nucleotide variant
(missense variant +1 more)
Capillary hemangioma
+8 more
GPathogenic/Likely pathogenic
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