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Links from MedGen

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNTNAP1
(Y482*)
Single nucleotide variant
(nonsense)
Neuropathy, congenital hypomyelinating, 3
GLikely pathogenic
CNTNAP1
(D733G)
Single nucleotide variant
(missense variant)
Neuropathy, congenital hypomyelinating, 3
GLikely pathogenic
CNTNAP1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CNTNAP1
Single nucleotide variant
(intron variant)
Neuropathy, congenital hypomyelinating, 3
+2 more
GBenign
CNTNAP1, LOC125177481
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
CNTNAP1
Single nucleotide variant
(synonymous variant)
Lethal congenital contracture syndrome 7
+2 more
GBenign/Likely benign
CNTNAP1
Single nucleotide variant
(synonymous variant)
Lethal congenital contracture syndrome 7
+2 more
GBenign/Likely benign
CNTNAP1
(W559*)
Single nucleotide variant
(nonsense)
Neuropathy, congenital hypomyelinating, 3
GPathogenic
CNTNAP1
(R764C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP1
(Q671*)
Single nucleotide variant
(nonsense)
Neuropathy, congenital hypomyelinating, 3
GPathogenic
CNTNAP1
(L212P)
Single nucleotide variant
(missense variant)
Neuropathy, congenital hypomyelinating, 3
GPathogenic
CNTNAP1
(W672*)
Single nucleotide variant
(nonsense)
Arthrogryposis, distal, type 1A
GPathogenic
CNTNAP1
(R388P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
Lethal congenital contracture syndrome 7
GPathogenic
CNTNAP1
(W623*)
Single nucleotide variant
(nonsense)
Neuropathy, congenital hypomyelinating, 3
GPathogenic
CNTNAP1
(C323R)
Single nucleotide variant
(missense variant)
Neuropathy, congenital hypomyelinating, 3
GPathogenic
CNTNAP1
(C968fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
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