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Links from MedGen

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NTNG2
(D315Y)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
GUncertain significance
PAK1
(N231S +5 more)
Single nucleotide variant
(missense variant +2 more)
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
GUncertain significance
NTNG2
(N322H)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
GUncertain significance
NTNG2
(C353Y)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
GUncertain significance
NTNG2
(T346A)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
GBenign
NTNG2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
NTNG2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
NTNG2
(C475W)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
GUncertain significance
NTNG2
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
GConflicting classifications of pathogenicity
NTNG2
(M149T)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, seizures, and absent language
GUncertain significance
NTNG2
(C81Y)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
+1 more
GPathogenic/Likely pathogenic
NTNG2
(C355W)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
+1 more
GPathogenic/Likely pathogenic
NTNG2
(W107G)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
+1 more
GPathogenic/Likely pathogenic
NTNG2
(C456Y)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
+1 more
GPathogenic/Likely pathogenic
NTNG2
(S126fs)
Duplication
(frameshift variant)
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
+4 more
GPathogenic
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