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Links from MedGen

Items: 1 to 100 of 196

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZDHHC9
(F52S)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Raymond type
GUncertain significance
ZDHHC9
Single nucleotide variant
(splice donor variant)
Syndromic X-linked intellectual disability Raymond type
GLikely pathogenic
ZDHHC9
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
(S319N)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Raymond type
GBenign
ZDHHC9
Duplication
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Raymond type
GBenign
ZDHHC9
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Raymond type
GBenign
ZDHHC9
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
(W264R)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Raymond type
GUncertain significance
ZDHHC9
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
(I188V)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Raymond type
GUncertain significance
ZDHHC9
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
(R164H)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Raymond type
GUncertain significance
ZDHHC9
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
(E305Q)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Raymond type
GUncertain significance
ZDHHC9
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
(V239I)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Raymond type
GUncertain significance
ZDHHC9
(K8R)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Raymond type
GUncertain significance
ZDHHC9
(N335Y)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Raymond type
GUncertain significance
ZDHHC9
(R125C)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Raymond type
GUncertain significance
ZDHHC9
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
(I196V)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Raymond type
GUncertain significance
ZDHHC9
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
(L321F)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Raymond type
GUncertain significance
ZDHHC9
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
(V62I)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Raymond type
GUncertain significance
ZDHHC9
(P66L)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Raymond type
GUncertain significance
ZDHHC9
(E345A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ZDHHC9
(R269C)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Raymond type
GUncertain significance
AIFM1, APLN
+7 more
Deletion
Syndromic X-linked intellectual disability Raymond type
GPathogenic
ZDHHC9
(A362P)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Raymond type
GUncertain significance
ZDHHC9
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
(A327T)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Raymond type
+1 more
GUncertain significance
ZDHHC9
(R298*)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability Raymond type
+1 more
GPathogenic/Likely pathogenic
ZDHHC9
(F233S)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Raymond type
GUncertain significance
ZDHHC9
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
(P344S)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
(M74I)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Raymond type
GUncertain significance
ZDHHC9
(R121*)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability Raymond type
GPathogenic
ZDHHC9
(S89T)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Raymond type
GUncertain significance
ZDHHC9
(S341G)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Raymond type
GUncertain significance
ZDHHC9
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Raymond type
GUncertain significance
ZDHHC9
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GUncertain significance
ZDHHC9
(E110K)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Raymond type
GUncertain significance
ZDHHC9
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Raymond type
GUncertain significance
ZDHHC9
(V240M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ZDHHC9
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GBenign
ZDHHC9
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GBenign
ZDHHC9
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
(M74V)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Raymond type
GUncertain significance
ZDHHC9
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
(D26N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ZDHHC9
(N257S)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Raymond type
GUncertain significance
ZDHHC9
(S318C)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Raymond type
GUncertain significance
ZDHHC9
(L189P)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Raymond type
GUncertain significance
ZDHHC9
(S89fs)
Deletion
(frameshift variant)
Syndromic X-linked intellectual disability Raymond type
GPathogenic/Likely pathogenic
ZDHHC9
(F201L)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Raymond type
GUncertain significance
ZDHHC9
(C175G)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Raymond type
GUncertain significance
ZDHHC9
(L138M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ZDHHC9
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
ZDHHC9
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GBenign
ZDHHC9
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GBenign
ZDHHC9
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GBenign
ZDHHC9
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GBenign
ZDHHC9
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Microsatellite
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GBenign
ZDHHC9
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GBenign
ZDHHC9
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Raymond type
+1 more
GLikely benign
ZDHHC9
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Deletion
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability Raymond type
GLikely benign
ZDHHC9
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Raymond type
GBenign
ZDHHC9
Inversion
(intron variant)
Inborn genetic diseases
+1 more
GBenign/Likely benign
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