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Items: 1 to 100 of 476

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC112533659, LOC112533660
+2032 more
Copy number gain
See cases
GPathogenic
AARSD1, AATF
+1753 more
Copy number gain
See cases
GPathogenic
AARSD1, ACBD4
+633 more
Copy number gain
See cases
GPathogenic
CNTNAP1
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
CNTNAP1, LOC125177481
+1 more
Deletion
(splice acceptor variant +2 more)
CNTNAP1-related disorder
GLikely pathogenic
CNTNAP1
(L4F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNTNAP1
(L6P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNTNAP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNTNAP1
(A17V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP1
(Y23H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP1
Single nucleotide variant
(intron variant)
not provided
GBenign
CNTNAP1
Single nucleotide variant
(intron variant)
not provided
GBenign
CNTNAP1, LOC125177481
Insertion
(intron variant)
not provided
GBenign
CNTNAP1, LOC125177481
Single nucleotide variant
(intron variant)
not provided
GBenign
CNTNAP1, LOC125177481
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
CNTNAP1, LOC125177481
(Y23*)
Single nucleotide variant
(nonsense)
Arthrogryposis multiplex congenita
+1 more
GPathogenic
CNTNAP1, LOC125177481
(G24R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP1, LOC125177481
(G24D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP1, LOC125177481
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNTNAP1, LOC125177481
(C25F)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CNTNAP1, LOC125177481
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNTNAP1, LOC125177481
(L46I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNTNAP1, LOC125177481
Single nucleotide variant
(synonymous variant)
Neuropathy, congenital hypomyelinating, 3
+2 more
GBenign
CNTNAP1, LOC125177481
Single nucleotide variant
(synonymous variant)
CNTNAP1-related disorder
+1 more
GLikely benign
CNTNAP1, LOC125177481
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CNTNAP1, LOC125177481
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CNTNAP1, LOC125177481
Single nucleotide variant
(intron variant)
CNTNAP1-related disorder
+1 more
GConflicting classifications of pathogenicity
CNTNAP1, LOC125177481
(I58V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNTNAP1, LOC125177481
(S59R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP1
(P68L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP1
(P70L)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
CNTNAP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNTNAP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNTNAP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNTNAP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNTNAP1
Single nucleotide variant
(synonymous variant)
CNTNAP1-related disorder
GLikely benign
CNTNAP1
Single nucleotide variant
(synonymous variant)
EBV-positive nodal T- and NK-cell lymphoma
GLikely benign
CNTNAP1
(G105C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNTNAP1
Single nucleotide variant
(synonymous variant)
Lethal congenital contracture syndrome 7
+2 more
GBenign/Likely benign
CNTNAP1
(Y115H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP1
(R117Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP1
Single nucleotide variant
(intron variant)
not provided
GBenign
CNTNAP1
Single nucleotide variant
(intron variant)
not provided
GBenign
CNTNAP1
Variation
(intron variant)
not provided
GBenign
CNTNAP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CNTNAP1
Single nucleotide variant
(intron variant)
not provided
GBenign
CNTNAP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CNTNAP1
Single nucleotide variant
(intron variant)
Neuropathy, congenital hypomyelinating, 3
+2 more
GBenign
CNTNAP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CNTNAP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CNTNAP1
(S130L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNTNAP1
(A131T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNTNAP1
(D136E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP1
(F139C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNTNAP1
(H140Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNTNAP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNTNAP1
(A143T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNTNAP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNTNAP1
(R147S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNTNAP1
(A152T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP1
(I159M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNTNAP1
(Y166C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CNTNAP1
Indel
(intron variant)
not provided
GUncertain significance
CNTNAP1
(I174L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNTNAP1
(Y185C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
CNTNAP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNTNAP1
(V191I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP1
(F199L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CNTNAP1
(L212P)
Single nucleotide variant
(missense variant)
Neuropathy, congenital hypomyelinating, 3
GPathogenic
CNTNAP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNTNAP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNTNAP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNTNAP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNTNAP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNTNAP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CNTNAP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CNTNAP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CNTNAP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CNTNAP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CNTNAP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CNTNAP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CNTNAP1
Duplication
(intron variant)
CNTNAP1-related disorder
GLikely benign
CNTNAP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CNTNAP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CNTNAP1
(S241R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP1
(A254T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
CNTNAP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNTNAP1
(G281V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNTNAP1
(E293Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP1
(T299S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CNTNAP1
Duplication
(intron variant)
not provided
GBenign
CNTNAP1
Single nucleotide variant
(intron variant)
not provided
GBenign
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