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Links from MedGen

Items: 1 to 100 of 303

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PI4K2B
(W269C)
Single nucleotide variant
(missense variant +1 more)
Autism
GUncertain significance
PLXNA3
(N564S)
Single nucleotide variant
(missense variant)
Autism
GUncertain significance
DPYSL3
(I105L +1 more)
Single nucleotide variant
(missense variant)
Autism
GUncertain significance
KCTD3
(N231Y +1 more)
Single nucleotide variant
(missense variant)
Autism
GUncertain significance
NEDD4
(D497N)
Single nucleotide variant
(missense variant +2 more)
Autism
GUncertain significance
EIF3H
(S17C)
Single nucleotide variant
(missense variant)
Autism
GUncertain significance
ZNF292
(D2536N +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder, autosomal dominant 64
GBenign
SLC35A2
(G296R +5 more)
Single nucleotide variant
(missense variant)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
CDKL5
(I876V)
Single nucleotide variant
(missense variant)
Autism
GLikely pathogenic
TRANK1
(E229G +1 more)
Single nucleotide variant
(missense variant)
Autism
GUncertain significance
TMEM232
(Y159C)
Single nucleotide variant
(missense variant)
Autism
GUncertain significance
TMEM214
(G268S +1 more)
Single nucleotide variant
(missense variant)
Autism
GUncertain significance
CSMD2
(R1955Q +1 more)
Single nucleotide variant
(missense variant)
Autism
GUncertain significance
ARAP1
(W535* +2 more)
Single nucleotide variant
(nonsense +1 more)
Autism
GUncertain significance
PDZD4
(P193L +5 more)
Single nucleotide variant
(missense variant)
Autism
GUncertain significance
EFCAB12
(L13F)
Single nucleotide variant
(missense variant)
Autism
GUncertain significance
TRANK1
(N319S +1 more)
Single nucleotide variant
(missense variant)
Autism
GLikely benign
VAV1
(D271fs +1 more)
Deletion
(frameshift variant)
Anxiety
+10 more
GUncertain significance
ATRN
(C132W)
Single nucleotide variant
(missense variant +1 more)
Autism
+2 more
GUncertain significance
CYFIP1
(A328S +4 more)
Single nucleotide variant
(missense variant +1 more)
Cognitive impairment
+5 more
GUncertain significance
BRPF3
(L660F)
Single nucleotide variant
(missense variant)
Cranial asymmetry
+3 more
GUncertain significance
CYFIP1
(F169L +6 more)
Single nucleotide variant
(missense variant)
Cognitive impairment
+5 more
GUncertain significance
PTK2
(R124* +34 more)
Single nucleotide variant
(nonsense +1 more)
Autism
+10 more
GUncertain significance
TTBK1
(R123*)
Single nucleotide variant
(nonsense)
Autism
+5 more
GUncertain significance
SPTBN5
(R430C)
Single nucleotide variant
(missense variant)
Intellectual disability, moderate
+4 more
GUncertain significance
WNK3
(R1287fs +1 more)
Duplication
(frameshift variant)
Autism
+8 more
GLikely pathogenic
CAPRIN1
(Q92*)
Single nucleotide variant
(nonsense)
Seizure
+3 more
GLikely pathogenic
GML
(M10V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
SPTBN5
(E2807K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
TCF7L2
(Q199* +7 more)
Single nucleotide variant
(nonsense)
Autism
GPathogenic
MSL2
(A294fs +1 more)
Deletion
(frameshift variant)
Autism
GUncertain significance
POLR3G
(P35T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
JARID2
(K116N)
Single nucleotide variant
(5 prime UTR variant +1 more)
Autism
+3 more
GLikely pathogenic
SHH
(N69I)
Single nucleotide variant
(missense variant)
Autism
GLikely pathogenic
SMAP1, SLC17A5
+17 more
Copy number loss
Autism
GPathogenic
PDZD4
(K621N +5 more)
Single nucleotide variant
(missense variant)
Hand tremor
+4 more
GUncertain significance
MYT1L
(Q1065L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MAPK8IP3
(A462G +2 more)
Single nucleotide variant
(missense variant)
Autism
GUncertain significance
TAOK2
(L164F)
Single nucleotide variant
(missense variant)
Autism
GUncertain significance
BPY2B, BPY2C
+9 more
Copy number gain
Autism
GUncertain significance
HAO1, TMX4
Copy number gain
Autism
GUncertain significance
CCDC138, EDAR
+4 more
Copy number loss
Autism
GPathogenic
BGN, LOC100509091
+21 more
Copy number gain
Autism
GUncertain significance
CEP170, CHML
+8 more
Copy number gain
Autism
GUncertain significance
Copy number gain
Autism
GUncertain significance
Copy number gain
Autism
GUncertain significance
Copy number gain
Autism
GUncertain significance
ABCC1, ABCC6
+13 more
Copy number gain
Autism
GLikely pathogenic
ABCC1, ABCC6
+10 more
Copy number gain
Autism
GLikely pathogenic
ARF3
(D93N)
Single nucleotide variant
(missense variant)
Clinodactyly
+16 more
GPathogenic/Likely pathogenic
MINK1
(L1032R +4 more)
Single nucleotide variant
(missense variant)
Autism
+4 more
GUncertain significance
LOC126862765, ZNF532
(V1086fs +6 more)
Duplication
(frameshift variant +1 more)
Obesity
+1 more
GUncertain significance
PRTG
(P541R)
Single nucleotide variant
(missense variant)
Obesity
+1 more
GUncertain significance
CECR2
(R598* +1 more)
Single nucleotide variant
(nonsense)
Cleft lip
+4 more
GUncertain significance
DDX46
(N939S +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypospadias
+5 more
GUncertain significance
UCMA
Deletion
(splice donor variant +1 more)
Autism
GUncertain significance
COL11A1
(R802G +3 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental delay
+1 more
GLikely pathogenic
STX1A
(V241del)
Deletion
(inframe_deletion +1 more)
Intellectual disability
+1 more
GLikely pathogenic
STX1A
(V223del)
Deletion
(inframe_deletion)
Intellectual disability
+1 more
GLikely pathogenic
STX1A
Single nucleotide variant
(splice acceptor variant)
Intellectual disability
+1 more
GPathogenic
SETD1A
(R217H)
Single nucleotide variant
(missense variant)
Autism
GUncertain significance
ANXA1
Duplication
Autism
GUncertain significance
EXOC3L4
(D187E)
Single nucleotide variant
(missense variant)
Autism
GUncertain significance
NRXN2
(T1097I +5 more)
Single nucleotide variant
(missense variant)
Autism
GUncertain significance
EEF1A2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 33
+3 more
GUncertain significance
FZR1
(G287S +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 109
+5 more
GConflicting classifications of pathogenicity
NAA15
(L332*)
Single nucleotide variant
(nonsense)
Autism
GPathogenic
NRXN1
Deletion
Autism
+4 more
GPathogenic
ARX
(L453R)
Single nucleotide variant
(missense variant)
Autism
GUncertain significance
EHMT1
(K461E +2 more)
Single nucleotide variant
(missense variant)
Autism
GUncertain significance
GRIN1
(S395C +1 more)
Single nucleotide variant
(missense variant)
Autism
GUncertain significance
SLC49A3, ZNF721
+5 more
Copy number gain
Autism
GPathogenic
RABL2B, SHANK3
+1 more
Copy number loss
Autism
+1 more
GPathogenic
PDSS2, SCML4
+3 more
Copy number loss
Autism
GPathogenic
CREBBP
Copy number loss
Corpus callosum, agenesis of
+4 more
GPathogenic
SRPX2
(R185L)
Single nucleotide variant
(missense variant)
Autism
+1 more
GUncertain significance
C16orf92, CDIPT
+25 more
Copy number gain
Autism
GPathogenic
DOCK8, DOCK8-AS1
Copy number gain
Autism
GPathogenic
CHL1, CNTN4
+5 more
Copy number loss
Delayed speech and language development
+1 more
GLikely pathogenic
CYFIP1, NIPA1
+2 more
Copy number loss
Autism
+1 more
GPathogenic
DEPDC7
(K246* +1 more)
Single nucleotide variant
(nonsense)
Autism
GUncertain significance
CHD8
(I1356T +1 more)
Single nucleotide variant
(missense variant)
Autism
+1 more
GUncertain significance
KMT2A
(N2337fs +1 more)
Deletion
(frameshift variant)
Autism
+1 more
GPathogenic
NAA10
Single nucleotide variant
(intron variant)
Autism
+1 more
GUncertain significance
DDX3X
Single nucleotide variant
(intron variant)
Autism
+1 more
GUncertain significance
CHD8
(D1337H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CHD1
(R1038I)
Single nucleotide variant
(missense variant +1 more)
Autism
+1 more
GUncertain significance
CHD3
(R130C +1 more)
Single nucleotide variant
(missense variant)
Autism
+1 more
GUncertain significance
MAGEL2
(M239I)
Single nucleotide variant
(missense variant)
Autism
+3 more
GConflicting classifications of pathogenicity
TTC19
(Q195* +1 more)
Single nucleotide variant
(nonsense)
Mitochondrial complex III deficiency nuclear type 2
+1 more
GPathogenic/Likely pathogenic
NLGN1
Single nucleotide variant
(synonymous variant)
Autism
+1 more
GUncertain significance
NUS1
(N233D)
Single nucleotide variant
(missense variant)
Autism
+3 more
GUncertain significance
SIN3A
(V387M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RERE
(K36Q +1 more)
Single nucleotide variant
(missense variant)
Autism
+2 more
GUncertain significance
ANK2
(S2102C +4 more)
Single nucleotide variant
(missense variant +1 more)
Autism
GUncertain significance
PTPN4
(L831I)
Single nucleotide variant
(missense variant)
Autism
+1 more
GUncertain significance
NCOR1
(R1876T)
Single nucleotide variant
(missense variant +1 more)
Autism
+1 more
GUncertain significance
TLK2
(M401L +4 more)
Single nucleotide variant
(missense variant)
Autism
+1 more
GUncertain significance
TRIO
(F2795L)
Single nucleotide variant
(missense variant +1 more)
Autism
+1 more
GUncertain significance
TRRAP
(S2025L +2 more)
Single nucleotide variant
(missense variant)
Autism
+1 more
GUncertain significance
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