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Links from MedGen

Items: 1 to 100 of 118

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DHX37
(D382G)
Single nucleotide variant
(missense variant)
Intellectual disability
+9 more
GLikely pathogenic
TUBGCP2
Single nucleotide variant
(splice acceptor variant)
Abnormality of neuronal migration
+1 more
GPathogenic
LOC126861106, TUBGCP2
(R297C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TUBGCP2
(A615P +2 more)
Single nucleotide variant
(missense variant +1 more)
Abnormality of neuronal migration
+1 more
GConflicting classifications of pathogenicity
LOC126861106, TUBGCP2
(R361C +2 more)
Single nucleotide variant
(missense variant +1 more)
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
+1 more
GUncertain significance
LOC102724058, SCN1A
(S1110fs +5 more)
Duplication
(non-coding transcript variant +1 more)
Polymicrogyria
+11 more
GPathogenic
ATP1A2
(R279fs)
Deletion
(frameshift variant)
not provided
GPathogenic
ATP1A2
(C702fs)
Deletion
(frameshift variant)
Familial hemiplegic migraine
GPathogenic
PHF6
(R319P)
Single nucleotide variant
(missense variant)
Macrocephaly
+7 more
GUncertain significance
Abnormality of neuronal migration
GUncertain significance
Abnormality of neuronal migration
GUncertain significance
Abnormality of neuronal migration
GUncertain significance
Abnormality of neuronal migration
GPathogenic
Abnormality of neuronal migration
GUncertain significance
Abnormality of neuronal migration
GPathogenic
Abnormality of neuronal migration
GPathogenic
Abnormality of neuronal migration
GPathogenic
STX7
(Q53H)
Single nucleotide variant
(missense variant +1 more)
Abnormality of neuronal migration
GLikely pathogenic
AHNAK2
(V899L +1 more)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
AHNAK2
(K1675N +1 more)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
SLC13A1
(I93L)
Single nucleotide variant
(5 prime UTR variant +1 more)
Abnormality of neuronal migration
GBenign
SLC13A1
(N280D +1 more)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
PLEKHG4B
(R1277Q)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
PLEKHG4B
(E879K)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
PHF24, SPATA31F1
(V818L)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
PHF24, SPATA31F1
(V852I)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
PHF24, SPATA31F1
(N980I)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
PHF24, SPATA31F1
(T1207P)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
PHF24, SPATA31F1
(N1329T)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
TNK2
(R256C +2 more)
Single nucleotide variant
(missense variant +1 more)
Abnormality of neuronal migration
GBenign
TNK2
(V578M +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FILIP1
(S308L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FILIP1
(K495E +1 more)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
FILIP1
(G1106R +1 more)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
ATXN7
(V282M +1 more)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
ATXN7, LOC129936979
(S71A)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
THADA
(R121H)
Single nucleotide variant
(missense variant +1 more)
Abnormality of neuronal migration
GBenign
THADA
(S823L +1 more)
Single nucleotide variant
(missense variant +1 more)
Abnormality of neuronal migration
GBenign
URI1
(T215I +1 more)
Single nucleotide variant
(missense variant +1 more)
Abnormality of neuronal migration
GBenign
URI1
(H11Q)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
TTN
(V351M)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+2 more
GConflicting classifications of pathogenicity
EVPL
(R105Q)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
EVPL
(V1376L +1 more)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
MUC16
Microsatellite
(frameshift variant)
Abnormality of neuronal migration
GBenign
MUC16
(P8789L +2 more)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
MROH2A
(L947fs)
Duplication
(frameshift variant)
Abnormality of neuronal migration
GBenign
MROH2A
(R651Q)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
HLA-A
(D220H)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
HLA-A
(G128E)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
CELSR1
(A2075V)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
CELSR1
(T2423M)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
PLEKHG2
(L1358S)
Single nucleotide variant
(missense variant +1 more)
Abnormality of neuronal migration
GBenign
PLEKHG2
(F410L +1 more)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
ACSM2A
(R472W +1 more)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
ACSM2A
(Y24*)
Single nucleotide variant
(nonsense +1 more)
Abnormality of neuronal migration
GBenign
PARP14
(P695T)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
PARP14
(S485R)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
PI4K2B
(Q287H)
Single nucleotide variant
(missense variant +1 more)
Abnormality of neuronal migration
GBenign
PI4K2B
(P4T)
Single nucleotide variant
(missense variant +1 more)
Abnormality of neuronal migration
GBenign
KANK1
(S1331C +6 more)
Single nucleotide variant
(missense variant +1 more)
Abnormality of neuronal migration
GBenign
KANK1
(A2fs)
Deletion
(frameshift variant +1 more)
Abnormality of neuronal migration
GBenign
GRID1
(P146L)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
GRID1
(R148C)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
NXPE3
(G319A)
Single nucleotide variant
(missense variant +2 more)
Abnormality of neuronal migration
GBenign
NXPE3
(A155fs)
Deletion
(frameshift variant +1 more)
Abnormality of neuronal migration
GBenign
NXPE3
(L151fs)
Deletion
(frameshift variant +1 more)
Abnormality of neuronal migration
GBenign
MUC16
(I2319V +2 more)
Single nucleotide variant
(missense variant)
MUC16-related disorder
GLikely benign
MUC16
(S2327fs +2 more)
Deletion
(frameshift variant)
MUC16-related disorder
GLikely benign
MUC16
(S3434P +2 more)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
MUC16
(A8727V +2 more)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
MEIS3
(L68I +1 more)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
DYRK1B
(V209I)
Single nucleotide variant
(missense variant)
DYRK1B-related disorder
GUncertain significance
CLC
(I130S)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
WDR62
(L677P)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GPathogenic
RFX1
(G899S)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
METTL1
(L181P)
Single nucleotide variant
(missense variant +1 more)
Abnormality of neuronal migration
GUncertain significance
NAP1L3
(A437G)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
TBC1D25
(L382R +3 more)
Single nucleotide variant
(missense variant +1 more)
Abnormality of neuronal migration
GBenign
FAM47A
(T437M)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
FRMPD3
(R868L +2 more)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
LOC126863198, PNPLA4
(R75K)
Single nucleotide variant
(missense variant +1 more)
Abnormality of neuronal migration
GUncertain significance
TREX2
(R87*)
Single nucleotide variant
(nonsense)
Abnormality of neuronal migration
GBenign
RBMX2
(R287H)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
BEX2
(C11Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Abnormality of neuronal migration
GBenign
ZMAT1
(P605S +2 more)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
DACH2
(P421S +2 more)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
CACNA1F
(R523H +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
MBTPS2
(H338L)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
ZNF75D
(C367Y +1 more)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
ARMCX4
(T192S)
Single nucleotide variant
(missense variant +1 more)
Abnormality of neuronal migration
GBenign
PHKA2
(I984T)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
FAM47A
(M43V)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GUncertain significance
NAP1L2
(S170P)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GUncertain significance
HDAC6
(R513H +1 more)
Single nucleotide variant
(missense variant +1 more)
Abnormality of neuronal migration
GUncertain significance
SLC38A5
(F269S)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GUncertain significance
CFAP47
(M2771V)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GUncertain significance
GYG2
(D145N +1 more)
Single nucleotide variant
(missense variant +1 more)
Abnormality of neuronal migration
GUncertain significance
FLNA, LOC107988032
(E2635K +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
GDPD2
(A132V +1 more)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
ZNF41
(H226L +7 more)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
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