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Links from MedGen

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADGRL1
(R27Q)
Single nucleotide variant
(missense variant)
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders
GUncertain significance
ADGRL1, ADGRL1-AS1
(R1108H +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders
GUncertain significance
ADGRL1, ADGRL1-AS1
(Y131*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders
GLikely pathogenic
ADGRL1-AS1, ADGRL1
(G882W +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders
GUncertain significance
ADGRL1, ADGRL1-AS1
(L1379R +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders
GUncertain significance
ADGRL1, ADGRL1-AS1
(V757fs +1 more)
Deletion
(frameshift variant)
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders
GPathogenic
ADGRL1, ADGRL1-AS1
(I237T +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders
GUncertain significance
ADGRL1, ADGRL1-AS1
(Q125fs)
Duplication
(non-coding transcript variant +1 more)
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders
GLikely pathogenic
ADGRL1, ADGRL1-AS1
(R224H +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders
GUncertain significance
ADGRL1, ADGRL1-AS1
(V1086fs +1 more)
Duplication
(non-coding transcript variant +1 more)
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders
GPathogenic
ADGRL1, ADGRL1-AS1
(S1159F +1 more)
Single nucleotide variant
(missense variant)
Seizure
+3 more
GPathogenic
ADGRL1
(W9*)
Single nucleotide variant
(nonsense)
Autistic behavior
+1 more
GLikely pathogenic
ADGRL1, ADGRL1-AS1
(W273* +1 more)
Single nucleotide variant
(nonsense)
Intellectual disability
+3 more
GPathogenic
ADGRL1, ADGRL1-AS1
(M1147T +1 more)
Single nucleotide variant
(missense variant)
Global developmental delay
GPathogenic
ADGRL1, ADGRL1-AS1
(W1000R +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability
+3 more
GPathogenic
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