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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SHANK3
(S1562* +1 more)
Single nucleotide variant
(nonsense)
Phelan-McDermid syndrome
+1 more
GPathogenic
SHANK3
(A1423fs)
Duplication
(frameshift variant)
Schizophrenia 15
+1 more
GPathogenic
SHANK3
(Q1318fs)
Deletion
(frameshift variant)
Schizophrenia 15
+1 more
GPathogenic
SHANK3
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
SHANK3
(L1105fs)
Deletion
(frameshift variant)
Schizophrenia 15
+1 more
GLikely pathogenic
SHANK3
(E1371del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
SHANK3
(A1227fs)
Deletion
(frameshift variant)
Phelan-McDermid syndrome
+4 more
GPathogenic/Likely pathogenic
SHANK3
Duplication
Phelan-McDermid syndrome
+4 more
GPathogenic
SHANK3
(A970S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
SHANK3
(A1227fs)
Duplication
(frameshift variant)
Neurodevelopmental disorder
+5 more
GPathogenic
SHANK3
(R536W +1 more)
Single nucleotide variant
(missense variant)
Schizophrenia 15
GPathogenic
SHANK3
(R1117* +1 more)
Single nucleotide variant
(nonsense)
Intellectual disability
GPathogenic
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