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Items: 1 to 100 of 474

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SETD1A
(Q3*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GLikely pathogenic
SETD1A
(A12T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SETD1A
(P13L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SETD1A
(S14R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SETD1A
(Q16*)
Single nucleotide variant
(nonsense)
Epilepsy, early-onset, with or without developmental delay
GLikely pathogenic
SETD1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SETD1A
(P35S)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SETD1A
(P35L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SETD1A
Single nucleotide variant
(synonymous variant)
SETD1A-related disorder
GLikely benign
SETD1A
Single nucleotide variant
(splice acceptor variant)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GLikely pathogenic
SETD1A
(S52fs)
Deletion
(frameshift variant)
Inborn genetic diseases
GPathogenic
SETD1A
(I55V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SETD1A
(P56L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SETD1A
(L60I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SETD1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SETD1A
(R64C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SETD1A
(C65Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SETD1A
(S69P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SETD1A
(S69T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SETD1A
(R72fs)
Deletion
(frameshift variant)
Inborn genetic diseases
GPathogenic
SETD1A
(R72I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SETD1A
(F74V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SETD1A
(S75F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SETD1A
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
SETD1A
Single nucleotide variant
(splice acceptor variant)
SETD1A-related disorder
GUncertain significance
SETD1A
(Y87C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SETD1A
(I91V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SETD1A
(R115C)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SETD1A
(R132H)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GUncertain significance
SETD1A
(A148fs)
Duplication
(frameshift variant)
not provided
GPathogenic
SETD1A
(A148T)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
SETD1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SETD1A
(K153R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SETD1A
(Q168L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SETD1A
Single nucleotide variant
(intron variant)
not provided
GBenign
SETD1A
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
SETD1A
(R176*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GPathogenic
SETD1A
(K203N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SETD1A
(S207L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SETD1A
(T211I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SETD1A
(T213M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
SETD1A
(E215K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SETD1A
(E215A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SETD1A
(E215D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SETD1A
(R217H)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
SETD1A
(R218C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SETD1A
(R219C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SETD1A
(D223N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SETD1A
(D223H)
Single nucleotide variant
(missense variant)
Epilepsy, early-onset, with or without developmental delay
+1 more
GUncertain significance
SETD1A
(T224K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SETD1A
(T232A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SETD1A
(T232I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SETD1A
(A233V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
SETD1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SETD1A
(T236P)
Single nucleotide variant
(missense variant)
Developmental disorder
GLikely benign
SETD1A
(T236I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SETD1A
(N239I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SETD1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SETD1A
(G240S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SETD1A
(T241I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SETD1A
Single nucleotide variant
(synonymous variant)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
+2 more
GBenign/Likely benign
SETD1A
(S244F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SETD1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SETD1A
(S252G)
Single nucleotide variant
(missense variant)
Developmental disorder
GLikely benign
SETD1A
(R253*)
Single nucleotide variant
(nonsense)
Schizophrenia
GPathogenic
SETD1A
(R253Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SETD1A
(T256I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SETD1A
(S258F)
Single nucleotide variant
(missense variant)
Seizure
GUncertain significance
SETD1A
Single nucleotide variant
(synonymous variant)
SETD1A-related disorder
GLikely benign
SETD1A
(Q269R)
Single nucleotide variant
(missense variant)
Epilepsy, early-onset, with or without developmental delay
GPathogenic
SETD1A
(T271A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
SETD1A
(T271P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SETD1A
(T274M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
SETD1A
(S288P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SETD1A
(R299W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SETD1A
(Q306E)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder
GUncertain significance
SETD1A
(R312C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SETD1A
(T322A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SETD1A
(S324P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SETD1A
(T325A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
SETD1A
(T330A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SETD1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SETD1A
(A339fs)
Duplication
(frameshift variant)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GPathogenic
SETD1A
(S341F)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SETD1A
(S342C)
Single nucleotide variant
(missense variant)
Epilepsy, early-onset, with or without developmental delay
GUncertain significance
SETD1A
Deletion
(inframe_deletion)
not provided
GUncertain significance
SETD1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SETD1A
(S347P)
Single nucleotide variant
(missense variant)
SETD1A-related disorder
GUncertain significance
SETD1A
Deletion
(inframe_deletion)
not provided
GUncertain significance
SETD1A
Single nucleotide variant
(synonymous variant)
SETD1A-related disorder
GLikely benign
SETD1A
(S355L)
Single nucleotide variant
(missense variant)
SETD1A-related disorder
+2 more
GUncertain significance
SETD1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SETD1A
(R375C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SETD1A
(R378H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SETD1A
(Y382fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GLikely pathogenic
SETD1A
(Y382C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SETD1A
(E391D)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SETD1A
(P392T)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GUncertain significance
SETD1A
Deletion
(inframe_deletion)
not provided
GUncertain significance
SETD1A
(T401A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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