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Links from MedGen

Items: 96

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEDD4L
(S765L +6 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
GUncertain significance
NEDD4L
(H428P +6 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
GUncertain significance
NEDD4L
Single nucleotide variant
(splice acceptor variant +1 more)
Periventricular nodular heterotopia 7
GLikely pathogenic
NEDD4L
Single nucleotide variant
(intron variant)
Periventricular nodular heterotopia 7
+1 more
GConflicting classifications of pathogenicity
NEDD4L
(G731R +6 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
GUncertain significance
NEDD4L
(L714F +6 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
GUncertain significance
NEDD4L
Single nucleotide variant
(synonymous variant +1 more)
Periventricular nodular heterotopia 7
GUncertain significance
NEDD4L
(P324S +6 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
GUncertain significance
NEDD4L
(N205S +2 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
+1 more
GUncertain significance
NEDD4L
Single nucleotide variant
(intron variant)
Periventricular nodular heterotopia 7
GUncertain significance
NEDD4L
(P183R +2 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
GUncertain significance
NEDD4L
Single nucleotide variant
(intron variant)
Periventricular nodular heterotopia 7
GLikely pathogenic
NEDD4L
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NEDD4L
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
NEDD4L
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
NEDD4L
Single nucleotide variant
(intron variant)
Periventricular nodular heterotopia 7
+1 more
GLikely benign
NEDD4L
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
LOC130062568, NEDD4L
Single nucleotide variant
(intron variant)
Periventricular nodular heterotopia 7
+1 more
GBenign/Likely benign
NEDD4L
Single nucleotide variant
(intron variant)
Periventricular nodular heterotopia 7
+1 more
GLikely benign
NEDD4L
(M142T +2 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
+1 more
GConflicting classifications of pathogenicity
NEDD4L
Deletion
(intron variant)
Periventricular nodular heterotopia 7
+1 more
GBenign/Likely benign
NEDD4L
Deletion
(intron variant)
not provided
+1 more
GBenign/Likely benign
LOC130062568, NEDD4L
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
LOC130062568, NEDD4L
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
NEDD4L
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
NEDD4L
Single nucleotide variant
(intron variant)
Periventricular nodular heterotopia 7
+1 more
GLikely benign
NEDD4L
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
NEDD4L
Deletion
(intron variant)
Periventricular nodular heterotopia 7
+1 more
GConflicting classifications of pathogenicity
NEDD4L
(H559R +6 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
+1 more
GUncertain significance
NEDD4L
(V257M +5 more)
Single nucleotide variant
(missense variant +1 more)
Periventricular nodular heterotopia 7
+1 more
GUncertain significance
LOC126862763, NEDD4L
(V102M +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
NEDD4L
(P171L +2 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
GUncertain significance
NEDD4L
(A162P +2 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
+1 more
GUncertain significance
LOC130062568, NEDD4L
(P8L)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
GUncertain significance
NEDD4L
Deletion
(intron variant)
Periventricular nodular heterotopia 7
+1 more
GBenign
NEDD4L
Duplication
(intron variant)
not provided
+1 more
GBenign/Likely benign
NEDD4L
(E251K +2 more)
Single nucleotide variant
(missense variant +1 more)
Periventricular nodular heterotopia 7
GUncertain significance
NEDD4L
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LOC126862763, NEDD4L
Single nucleotide variant
(intron variant)
Periventricular nodular heterotopia 7
+1 more
GLikely benign
NEDD4L
(E489Q +6 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
GUncertain significance
NEDD4L
(M395R +6 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
+1 more
GUncertain significance
NEDD4L
(R131C +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NEDD4L
(I232N +2 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
GUncertain significance
NEDD4L
(K681T +6 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NEDD4L
(N485T +6 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
+1 more
GUncertain significance
NEDD4L
(T547R +6 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
GUncertain significance
NEDD4L
(R837Q +6 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NEDD4L
(D170E +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NEDD4L
(F614L +6 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NEDD4L
(T423K +6 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
+1 more
GUncertain significance
NEDD4L
(N478S +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
NEDD4L
Single nucleotide variant
(5 prime UTR variant +1 more)
Periventricular nodular heterotopia 7
GUncertain significance
NEDD4L
(L768F +6 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
+1 more
GUncertain significance
NEDD4L
(R208Q +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability
+2 more
GPathogenic/Likely pathogenic
NEDD4L
(E271A +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NEDD4L
Single nucleotide variant
(intron variant)
not provided
GBenign
NEDD4L
(N694S +6 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
+1 more
GUncertain significance
NEDD4L
(G306R +6 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
+2 more
GConflicting classifications of pathogenicity
NEDD4L
(D224N +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NEDD4L
(T431A +6 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NEDD4L
(F600I +6 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
+2 more
GUncertain significance
NEDD4L
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
NEDD4L
(Q184R +2 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
GUncertain significance
NEDD4L
(M729V +6 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
GLikely pathogenic
NEDD4L
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
NEDD4L
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
NEDD4L
Single nucleotide variant
(intron variant)
Periventricular nodular heterotopia 7
+1 more
GLikely benign
NEDD4L
Single nucleotide variant
(synonymous variant)
Periventricular nodular heterotopia 7
+1 more
GLikely benign
NEDD4L
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
NEDD4L
(R440Q +6 more)
Single nucleotide variant
(missense variant)
NEDD4L-related disorder
+2 more
GLikely benign
NEDD4L
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
NEDD4L
Single nucleotide variant
(synonymous variant)
Periventricular nodular heterotopia 7
+1 more
GBenign/Likely benign
NEDD4L
Single nucleotide variant
(intron variant)
NEDD4L-related disorder
+2 more
GBenign/Likely benign
NEDD4L
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GLikely benign
NEDD4L
(L291V +2 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
+1 more
GUncertain significance
NEDD4L
(A387V +6 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
+1 more
GUncertain significance
NEDD4L
(R391Q +6 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
+1 more
GUncertain significance
NEDD4L
Single nucleotide variant
(intron variant)
Periventricular nodular heterotopia 7
+2 more
GBenign/Likely benign
NEDD4L
(R126Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NEDD4L
(F91I +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Periventricular nodular heterotopia 7
GUncertain significance
NEDD4L
(N322S +2 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
+1 more
GUncertain significance
NEDD4L
Translocation
Periventricular nodular heterotopia 7
GLikely pathogenic
NEDD4L
(A355V +2 more)
Single nucleotide variant
(missense variant +1 more)
Periventricular nodular heterotopia 7
GUncertain significance
NEDD4L
(P419L +6 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NEDD4L
Single nucleotide variant
(intron variant)
Periventricular nodular heterotopia 7
+1 more
GBenign/Likely benign
NEDD4L
Single nucleotide variant
(intron variant)
Periventricular nodular heterotopia 7
+1 more
GBenign
NEDD4L
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
NEDD4L
Single nucleotide variant
(5 prime UTR variant +1 more)
Periventricular nodular heterotopia 7
+1 more
GLikely benign
NEDD4L
(S179T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
NEDD4L
(S233L +2 more)
Single nucleotide variant
(missense variant)
NEDD4L-related disorder
+2 more
GBenign/Likely benign
NEDD4L
(N678S +6 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
+1 more
GConflicting classifications of pathogenicity
NEDD4L
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
NEDD4L
(Y679C +6 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
+1 more
GPathogenic
NEDD4L
(Q694H +6 more)
Single nucleotide variant
(missense variant)
Periventricular nodular heterotopia 7
+1 more
GPathogenic
NEDD4L
(E893K +6 more)
Single nucleotide variant
(missense variant)
Chromosome 5Q14.3 deletion syndrome, distal
+2 more
GConflicting classifications of pathogenicity
NEDD4L
(R897Q +6 more)
Single nucleotide variant
(missense variant)
Intellectual disability
+1 more
GConflicting classifications of pathogenicity
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