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Links from MedGen

Items: 95

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CASK
Deletion
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
(K236fs)
Deletion
(frameshift variant)
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
(Q294P)
Indel
(missense variant)
Syndromic X-linked intellectual disability Najm type
GUncertain significance
CASK
(Q665* +3 more)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
(G638* +3 more)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability Najm type
GLikely pathogenic
CASK
(T558fs +1 more)
Deletion
(frameshift variant)
Syndromic X-linked intellectual disability Najm type
GLikely pathogenic
CASK
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Najm type
GLikely benign
CASK, DDX3X
+19 more
Copy number loss
Syndromic X-linked intellectual disability Najm type
+1 more
GPathogenic
CASK
Copy number loss
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
(Q618H +3 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Najm type
GUncertain significance
CASK
(L575fs +3 more)
Deletion
(frameshift variant)
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
Microsatellite
(splice donor variant)
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
(T864fs +4 more)
Microsatellite
(frameshift variant)
Syndromic X-linked intellectual disability Najm type
GLikely pathogenic
CASK
Single nucleotide variant
(splice acceptor variant)
Syndromic X-linked intellectual disability Najm type
GLikely pathogenic
CASK
Single nucleotide variant
(synonymous variant +1 more)
Syndromic X-linked intellectual disability Najm type
GLikely pathogenic
CASK
(G197*)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
(M1V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GPathogenic
CASK
(E189Q)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Najm type
GUncertain significance
CASK
(T498fs +1 more)
Deletion
(frameshift variant)
Syndromic X-linked intellectual disability Najm type
GLikely pathogenic
CASK
(M549I +1 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Najm type
GUncertain significance
CASK
(W275*)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
(L169*)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability Najm type
GLikely pathogenic
CASK
Single nucleotide variant
(synonymous variant)
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
+3 more
GLikely benign
CASK
Single nucleotide variant
(splice donor variant)
Syndromic X-linked intellectual disability Najm type
GLikely pathogenic
CASK
Single nucleotide variant
(splice donor variant)
Syndromic X-linked intellectual disability Najm type
GLikely pathogenic
CASK
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Najm type
GUncertain significance
CASK
Single nucleotide variant
(splice donor variant)
Syndromic X-linked intellectual disability Najm type
GLikely pathogenic
CASK
(V815F +4 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Najm type
GUncertain significance
CASK
(D696N +4 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Najm type
GLikely pathogenic
CASK
(G19E)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Najm type
GUncertain significance
CASK
(E841fs +3 more)
Deletion
(frameshift variant)
Syndromic X-linked intellectual disability Najm type
GLikely pathogenic
CASK
(Y413fs +1 more)
Deletion
(frameshift variant)
Syndromic X-linked intellectual disability Najm type
GLikely pathogenic
CASK
Deletion
(splice donor variant)
Syndromic X-linked intellectual disability Najm type
GLikely pathogenic
CASK
(G206S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
CASK
(W242*)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability Najm type
GLikely pathogenic
CASK
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Najm type
+1 more
GConflicting classifications of pathogenicity
CASK
(N643fs +2 more)
Duplication
(frameshift variant)
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
(W628* +3 more)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
(H120R)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Najm type
GLikely pathogenic
CASK
(M258fs)
Deletion
(frameshift variant)
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
(E263K)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Najm type
GLikely pathogenic
CASK
(P462fs +1 more)
Deletion
(frameshift variant)
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
(S781N +4 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
(G306fs)
Duplication
(frameshift variant)
FG syndrome 4
+1 more
GPathogenic
CASK
(W275*)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
(Y708fs +2 more)
Duplication
(frameshift variant)
Syndromic X-linked intellectual disability Najm type
+1 more
GPathogenic/Likely pathogenic
CASK
Single nucleotide variant
(splice acceptor variant)
Congenital cerebellar hypoplasia
+1 more
GPathogenic/Likely pathogenic
CASK
Single nucleotide variant
(splice acceptor variant +1 more)
Syndromic X-linked intellectual disability Najm type
+1 more
GLikely pathogenic
CASK
(V849A +4 more)
Single nucleotide variant
(missense variant)
FG syndrome 4
+1 more
GLikely pathogenic
CASK
(D752fs +3 more)
Deletion
(frameshift variant)
Syndromic X-linked intellectual disability Najm type
GLikely pathogenic
CASK
(G637D +3 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Najm type
+1 more
GConflicting classifications of pathogenicity
CASK
(T542fs +1 more)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
CASK
Single nucleotide variant
(splice donor variant)
Syndromic X-linked intellectual disability Najm type
GLikely pathogenic
CASK
(R537* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
CASK
(Y282*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CASK
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic
CASK
(Q37*)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
(Y282*)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability Najm type
+2 more
GPathogenic
CASK
(E622* +3 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CASK
(F822fs +3 more)
Deletion
(frameshift variant)
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
Single nucleotide variant
(splice donor variant)
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
(L209P)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Najm type
+1 more
GPathogenic/Likely pathogenic
CASK
(F23fs)
Deletion
(frameshift variant)
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
(R613* +3 more)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability Najm type
+2 more
GPathogenic/Likely pathogenic
CASK
Deletion
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
(R489W +1 more)
Single nucleotide variant
(missense variant)
Smith-Magenis Syndrome-like
+2 more
GPathogenic/Likely pathogenic
CASK
Single nucleotide variant
(splice acceptor variant)
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
(E849fs +3 more)
Microsatellite
(frameshift variant)
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
(Q793* +4 more)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
(L638fs +2 more)
Deletion
(frameshift variant)
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
(R27*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CASK
(G659D +3 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Najm type
GPathogenic
LDLR
(G592E +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GPathogenic
CASK
(Q294*)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
(R28*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+4 more
GPathogenic
CASK
(R255H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CASK
Single nucleotide variant
(splice donor variant)
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
(G206D)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Najm type
GConflicting classifications of pathogenicity
CASK
Single nucleotide variant
(splice acceptor variant)
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
(Q824* +4 more)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
(L7fs)
Deletion
(frameshift variant)
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
(Q692* +3 more)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability Najm type
GPathogenic/Likely pathogenic
CASK
(R681* +3 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CASK
(W680S +3 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Najm type
GUncertain significance
CASK
(V543fs +1 more)
Deletion
(frameshift variant)
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Najm type
GUncertain significance
CASK
(Q547* +1 more)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK, LOC130068172
+1 more
Deletion
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
(R106*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CASK
(Y728C +4 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Najm type
GLikely pathogenic
CASK
(P396S +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CASK
(D710G +3 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Najm type
+1 more
GLikely pathogenic
CASK
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Najm type
GPathogenic
CASK
(R639* +3 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
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