U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MACF1
Single nucleotide variant
(splice donor variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(P125A +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
Single nucleotide variant
(intron variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(R964C +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(K1248E +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(E1254* +1 more)
Single nucleotide variant
(nonsense)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(R1372C +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
+1 more
GConflicting classifications of pathogenicity
MACF1
(G3129W +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(P4123S +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(H4911Q +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(V3294M +2 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GLikely pathogenic
Format
Items per page
Sort by
Choose Destination