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Items: 69

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIGL
(D52N)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
RARS2
(V136A)
Single nucleotide variant
(missense variant +3 more)
Pontocerebellar hypoplasia type 6
+1 more
GConflicting classifications of pathogenicity
SATB2
(K400E)
Single nucleotide variant
(missense variant)
intellectual deficiency
GUncertain significance
EP300
(A695fs +1 more)
Duplication
(frameshift variant)
intellectual deficiency
+1 more
GLikely pathogenic
DOCK6
(H312Y)
Single nucleotide variant
(missense variant)
Macrocephaly
+1 more
GUncertain significance
STRADA
(S264R +5 more)
Single nucleotide variant
(missense variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GUncertain significance
SCN2A
(G1355fs)
Deletion
(frameshift variant)
intellectual deficiency
GLikely pathogenic
ARID1B
(P387fs +4 more)
Duplication
(frameshift variant)
Coffin-Siris syndrome
GLikely pathogenic
DLG3
(S490N +2 more)
Single nucleotide variant
(missense variant)
Epilepsy
+1 more
GUncertain significance
USP9X
(T1780fs)
Deletion
(frameshift variant)
Severe intellectual deficiency
GLikely pathogenic
PORCN
(W189R +1 more)
Single nucleotide variant
(missense variant)
Focal dermal hypoplasia
GLikely pathogenic
ASXL3
(Y662*)
Single nucleotide variant
(nonsense)
Language retardation
+1 more
GLikely pathogenic
GRIN2B
(V558I)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
+3 more
GPathogenic/Likely pathogenic
KAT6B
(R760fs +7 more)
Deletion
(frameshift variant)
TWIST1-related craniosynostosis
+1 more
GUncertain significance
CDK5RAP2
(R591Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ARID1B
(D2121fs +4 more)
Deletion
(frameshift variant)
dysmorphy
+1 more
GLikely pathogenic
MEF2C
(T51I)
Single nucleotide variant
(missense variant)
Epilepsy
+1 more
GUncertain significance
SLC35A2
(L167fs +3 more)
Deletion
(frameshift variant +1 more)
Epileptic encephalopathy
GLikely pathogenic
FOXP1
Single nucleotide variant
(splice donor variant)
Autism
GLikely pathogenic
KMT5B
(F288fs +4 more)
Deletion
(frameshift variant +1 more)
Language retardation
GUncertain significance
NRXN2
(L184R)
Single nucleotide variant
(missense variant)
Severe intellectual deficiency
+1 more
GUncertain significance
ATP8A2
(C628Y +1 more)
Single nucleotide variant
(missense variant)
Severe intellectual deficiency
+1 more
GUncertain significance
KLF7
(D264N +2 more)
Single nucleotide variant
(synonymous variant +2 more)
Neurodevelopmental disorder
+3 more
GPathogenic/Likely pathogenic
CACNA1C
(L614P +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
+2 more
GConflicting classifications of pathogenicity
IQSEC2
(Q952* +1 more)
Single nucleotide variant
(nonsense)
Severe intellectual deficiency
+1 more
GLikely pathogenic
NFIA
(G294fs +2 more)
Deletion
(frameshift variant)
Cleft palate
+1 more
GLikely pathogenic
ADNP
(R225*)
Single nucleotide variant
(nonsense)
Global developmental delay
+1 more
GPathogenic/Likely pathogenic
SMARCA2
(H484N)
Single nucleotide variant
(missense variant)
Severe intellectual deficiency
+1 more
GUncertain significance
STXBP1
(Y358fs +3 more)
Deletion
(frameshift variant)
Severe intellectual deficiency
GLikely pathogenic
GRIN2B
(M706V)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
+1 more
GLikely pathogenic
ANKRD11
(P2073fs)
Deletion
(frameshift variant)
KBG syndrome
GPathogenic
AUTS2
(H535Q)
Single nucleotide variant
(missense variant)
Pierre Robin-like syndrome
GLikely pathogenic
STXBP1
(T361I +3 more)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GLikely pathogenic
ARID1B
Single nucleotide variant
(splice donor variant)
Coffin-Siris syndrome
GLikely pathogenic
SMARCA2
(R1306K +3 more)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GLikely pathogenic
RORA, RORA-AS1
(R340fs +3 more)
Deletion
(frameshift variant)
Severe intellectual deficiency
+1 more
GPathogenic/Likely pathogenic
KIF11
(I288fs)
Deletion
(frameshift variant)
Retinal dysplasia
+2 more
GLikely pathogenic
POGZ
(M332fs +4 more)
Deletion
(frameshift variant)
Inborn genetic diseases
+5 more
GPathogenic
KCNQ2
(R201H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
SMARCA4
(R1443Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
KMT2A
(R1101*)
Single nucleotide variant
(nonsense)
Wiedemann-Steiner syndrome
+2 more
GPathogenic/Likely pathogenic
IQSEC2
(Y64fs +1 more)
Deletion
(frameshift variant)
Inborn genetic diseases
+2 more
GPathogenic
DISP1
(W966* +1 more)
Single nucleotide variant
(nonsense)
Microform holoprosencephaly
GLikely pathogenic
DISP1
(E553K +1 more)
Single nucleotide variant
(missense variant)
Lobar holoprosencephaly
GUncertain significance
DISP1
(N363D +1 more)
Single nucleotide variant
(missense variant)
Lobar holoprosencephaly
GUncertain significance
DLL1, LOC126859913
(S706L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DLL1
Deletion
(inframe_indel)
not provided
+1 more
GBenign/Likely benign
FGFR1
(E692K +7 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GLikely pathogenic
FGFR1
Single nucleotide variant
(splice donor variant)
Pfeiffer syndrome
+2 more
GPathogenic/Likely pathogenic
FGFR1
(G643D +7 more)
Single nucleotide variant
(missense variant)
Microform holoprosencephaly
GLikely pathogenic
FGFR1
(G485V +7 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
GLikely pathogenic
FGFR1
(R250P +5 more)
Single nucleotide variant
(missense variant)
Lobar holoprosencephaly
GLikely pathogenic
FGF8
(R206Q +4 more)
Single nucleotide variant
(missense variant)
See cases
GLikely pathogenic
FGF8
(R129* +4 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
FGF8
(T119M +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely pathogenic
FGF8
(A106E +4 more)
Single nucleotide variant
(missense variant)
Semilobar holoprosencephaly
GLikely pathogenic
GLI2
Single nucleotide variant
(stop lost)
Microform holoprosencephaly
GLikely pathogenic
GLI2
(W746* +2 more)
Single nucleotide variant
(nonsense)
Microform holoprosencephaly
GLikely pathogenic
GLI2
(S690fs +2 more)
Deletion
(frameshift variant)
Microform holoprosencephaly
GLikely pathogenic
GLI2
(R264* +1 more)
Single nucleotide variant
(nonsense)
Microform holoprosencephaly
GLikely pathogenic
GLI2
(A75fs +1 more)
Duplication
(frameshift variant)
Microform holoprosencephaly
GLikely pathogenic
GLI2
(A117T)
Single nucleotide variant
(missense variant +1 more)
Microform holoprosencephaly
GUncertain significance
GRIN2B
(I695T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
FGFR1
(G397R +6 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
GLikely pathogenic
SLC2A1
(R330*)
Single nucleotide variant
(nonsense)
Childhood onset GLUT1 deficiency syndrome 2
+6 more
GPathogenic
FOXG1
(P182L)
Single nucleotide variant
(missense variant)
FOXG1 disorder
GLikely pathogenic
SUFU
(P341L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
PIGL
(L167P)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
TCF4
(R576W +21 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GPathogenic
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