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Links from MedGen

Items: 76

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP85L, LOC129997071
(M1I)
Single nucleotide variant
(missense variant +2 more)
Lissencephaly
GPathogenic
TUBA1A
(L234P +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly
GLikely pathogenic
CEP85L
(S63R +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly
GLikely pathogenic
CEP85L
Single nucleotide variant
(splice donor variant)
Lissencephaly
+1 more
GPathogenic
FOXG1
(I229K)
Indel
(missense variant)
Lissencephaly
GLikely pathogenic
Copy number loss
Generalized hypotonia
+3 more
GPathogenic
RELN
(F2205fs)
Deletion
(frameshift variant)
Lissencephaly
GLikely pathogenic
RELN
(Q417*)
Single nucleotide variant
(nonsense)
Lissencephaly
GLikely pathogenic
TUBG1
(I257F)
Single nucleotide variant
(missense variant)
Lissencephaly
GLikely pathogenic
TUBB3
(M316T +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly
GLikely pathogenic
TUBB2B
(S25G)
Single nucleotide variant
(missense variant)
Lissencephaly
GUncertain significance
TUBB2B
(N100Y)
Single nucleotide variant
(missense variant)
Lissencephaly
GLikely pathogenic
TUBB2B
(D249E)
Single nucleotide variant
(missense variant)
Lissencephaly
GUncertain significance
RELN
(Q2109*)
Single nucleotide variant
(nonsense)
Lissencephaly
GLikely pathogenic
RELN
(I1069fs)
Deletion
(frameshift variant)
Lissencephaly
GLikely pathogenic
PAFAH1B1
Deletion
Lissencephaly
GLikely pathogenic
PAFAH1B1
Deletion
Lissencephaly
GLikely pathogenic
PAFAH1B1
Deletion
Lissencephaly
GLikely pathogenic
PAFAH1B1
(G349fs)
Duplication
(frameshift variant)
Lissencephaly
GLikely pathogenic
PAFAH1B1
(L248P)
Single nucleotide variant
(missense variant)
Lissencephaly
GUncertain significance
PAFAH1B1
(R241fs)
Deletion
(frameshift variant)
Lissencephaly
GLikely pathogenic
PAFAH1B1
(V227fs)
Microsatellite
(frameshift variant)
Lissencephaly
GLikely pathogenic
PAFAH1B1
(W219G)
Single nucleotide variant
(missense variant)
Lissencephaly
GUncertain significance
PAFAH1B1
(E52fs)
Duplication
(frameshift variant)
Lissencephaly
GLikely pathogenic
PAFAH1B1
(Q7*)
Single nucleotide variant
(nonsense)
Lissencephaly
GLikely pathogenic
DYNC1H1
(E3771K)
Single nucleotide variant
(missense variant)
Lissencephaly
GLikely pathogenic
DYNC1H1
(G3630S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
GUncertain significance
DYNC1H1
(R3438Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
GLikely benign
DYNC1H1
(R3344W)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+1 more
GPathogenic/Likely pathogenic
DYNC1H1
(K3318N)
Single nucleotide variant
(missense variant)
Lissencephaly
GUncertain significance
DYNC1H1
(L2605del)
Deletion
(inframe_deletion)
Lissencephaly
GLikely pathogenic
DYNC1H1
(W1054S)
Single nucleotide variant
(missense variant)
Lissencephaly
GUncertain significance
DYNC1H1
(L774P)
Single nucleotide variant
(missense variant)
Lissencephaly
GLikely pathogenic
DYNC1H1
(V668D)
Single nucleotide variant
(missense variant)
Lissencephaly
GLikely pathogenic
DYNC1H1
(K305N)
Single nucleotide variant
(missense variant)
Lissencephaly
GLikely pathogenic
DCX
(L178V +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly
GLikely pathogenic
ACTG1
(D179Y)
Single nucleotide variant
(missense variant +1 more)
Lissencephaly
GUncertain significance
DYNC1H1
Single nucleotide variant
(splice donor variant)
Charcot-Marie-Tooth disease axonal type 2O
GUncertain significance
ASPM
(L1524fs +1 more)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
MACF1
(G4706R +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly
+1 more
GPathogenic/Likely pathogenic
MACF1
(C5177F +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly
GPathogenic
DYNC1H1
(R1603T)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 13
GUncertain significance
OR1E2, CLUH
+16 more
Copy number loss
Lissencephaly
GPathogenic
RAP1GAP2, CLUH
+2 more
Copy number loss
Strabismus
+6 more
GPathogenic
SERPINF2, SGSM2
+25 more
Copy number loss
Lissencephaly
+2 more
GPathogenic
CEP85L
(S64F +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly
+1 more
GUncertain significance
TUBB
(P287L +3 more)
Single nucleotide variant
(missense variant +1 more)
Complex cortical dysplasia with other brain malformations 6
+3 more
GConflicting classifications of pathogenicity
TUBG1
(S259L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
TUBB2B
(Q291K)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
GLikely pathogenic
TUBA1A
(E434del +1 more)
Microsatellite
(inframe_deletion)
Inborn genetic diseases
+1 more
GUncertain significance
DYNC1H1
(R1623Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+2 more
GPathogenic/Likely pathogenic
DYNC1H1
(R3474W)
Single nucleotide variant
(missense variant)
Spinal muscular atrophy with lower extremity predominance
+2 more
GPathogenic
DYNC1H1
(R3728P)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 13
GLikely pathogenic
DYNC1H1
(R569P)
Single nucleotide variant
(missense variant)
Lissencephaly
+1 more
GPathogenic/Likely pathogenic
DYNC1H1
(R309H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+1 more
GPathogenic/Likely pathogenic
TUBA1A
(V409A +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
+2 more
GPathogenic/Likely pathogenic
RELN, SLC26A5-AS1
Microsatellite
(splice donor variant)
not provided
GUncertain significance
RELN
(L1734V)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
MZT2B, TUBA3E
(R215C)
Single nucleotide variant
(missense variant)
Global developmental delay
+3 more
GLikely pathogenic
TUBA1A
(I332T +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GLikely pathogenic
TUBA1A
(R402C +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+3 more
GPathogenic/Likely pathogenic
PAFAH1B1
(R371*)
Single nucleotide variant
(nonsense)
Lissencephaly due to LIS1 mutation
+1 more
GPathogenic
DCX
(R303* +1 more)
Single nucleotide variant
(nonsense)
Lissencephaly type 1 due to doublecortin gene mutation
+2 more
GPathogenic
DCX
(R78L +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly type 1 due to doublecortin gene mutation
+2 more
GPathogenic
TUBB2B
(E421K)
Single nucleotide variant
(missense variant)
Lissencephaly
+1 more
GPathogenic/Likely pathogenic
DYNC1H1
(R3344Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+1 more
GPathogenic
EXOSC3
(G31A)
Single nucleotide variant
(missense variant)
Abnormal cerebellum morphology
+8 more
GPathogenic/Likely pathogenic
ACTG1
(R256W)
Single nucleotide variant
(missense variant +1 more)
Baraitser-winter syndrome 2
GPathogenic
ACTG1
(R254W)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nonsyndromic hearing loss 20
+2 more
GPathogenic/Likely pathogenic
PAFAH1B1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
PAFAH1B1
(R8*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
TUBA1A
(R422H +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+2 more
GPathogenic
TUBA1A
(R402H +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+3 more
GPathogenic
TUBA1A
(R264C +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+3 more
GPathogenic
NBN
(K137fs +1 more)
Deletion
(frameshift variant)
not provided
+7 more
GPathogenic
CENPJ
(S1081fs)
Deletion
(frameshift variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
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