U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAST1, LOC112543452
(E772D)
Single nucleotide variant
(missense variant)
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
GUncertain significance
MAST1
(T126K)
Single nucleotide variant
(missense variant)
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
GLikely pathogenic
MAST1
(L292Q)
Single nucleotide variant
(missense variant)
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
GUncertain significance
MAST1
(F433S)
Single nucleotide variant
(missense variant)
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
GLikely pathogenic
MAST1
(D373V)
Single nucleotide variant
(missense variant)
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
GUncertain significance
MAST1
(F704L)
Single nucleotide variant
(missense variant)
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
GUncertain significance
MAST1
(A887V)
Single nucleotide variant
(missense variant)
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
GUncertain significance
MAST1
(G1151S)
Single nucleotide variant
(missense variant)
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
GUncertain significance
MAST1
(E854Q)
Single nucleotide variant
(missense variant)
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
GUncertain significance
MAST1
(L289V)
Single nucleotide variant
(missense variant)
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
GUncertain significance
MAST1
(E532Q)
Single nucleotide variant
(missense variant)
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
GLikely pathogenic
LOC112543452, MAST1
(P771T)
Single nucleotide variant
(missense variant)
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
GUncertain significance
MAST1
(R88W)
Single nucleotide variant
(missense variant)
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
+1 more
GUncertain significance
MAST1
(L523P)
Single nucleotide variant
(missense variant)
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
GPathogenic
LOC117125587, MAST1
(C231R)
Single nucleotide variant
(missense variant)
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
GPathogenic
MAST1
(T527N)
Single nucleotide variant
(missense variant)
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
GLikely pathogenic
MAST1
(S1169L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MAST1
(V996I)
Single nucleotide variant
(missense variant)
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
GUncertain significance
LOC112543452, MAST1
(W766R)
Single nucleotide variant
(missense variant)
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
GUncertain significance
MAST1
(G86R)
Single nucleotide variant
(missense variant)
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
GUncertain significance
LOC112543452, MAST1
(E787D)
Single nucleotide variant
(missense variant)
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
+1 more
GUncertain significance
MAST1
(G1365S)
Single nucleotide variant
(missense variant)
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
GUncertain significance
MAST1
(A1308V)
Single nucleotide variant
(missense variant)
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
GUncertain significance
LOC112543452, MAST1
(T765I)
Single nucleotide variant
(missense variant)
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
GUncertain significance
MAST1
(H393Y)
Single nucleotide variant
(missense variant)
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
GUncertain significance
MAST1, LOC112543452
(E785V)
Single nucleotide variant
(missense variant)
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
GUncertain significance
MAST1
Single nucleotide variant
(synonymous variant)
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
+1 more
GBenign/Likely benign
MAST1
(N71fs)
Duplication
(frameshift variant)
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
+1 more
GUncertain significance
MAST1
(G517S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
MAST1
(L279del)
Deletion
(inframe_deletion)
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
GPathogenic
MAST1
(K277del)
Microsatellite
(inframe_deletion)
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
GPathogenic
LOC117125587, MAST1
(E195del)
Microsatellite
(inframe_deletion)
Inborn genetic diseases
GUncertain significance
MAST1
(S93L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination