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Items: 1 to 100 of 1295

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LINC02811, LITATS1
+1147 more
Copy number gain
See cases
GPathogenic
A3GALT2, ACOT11
+1226 more
Inversion
Bilateral polymicrogyria
GLikely pathogenic
AKIRIN1, BMP8A
+268 more
Copy number loss
See cases
GPathogenic
AKIRIN1, BMP8A
+53 more
Copy number loss
See cases
GLikely benign
MACF1
Single nucleotide variant
(5 prime UTR variant)
MACF1-related disorder
GLikely benign
MACF1
Duplication
(inframe_insertion)
not provided
+1 more
GLikely benign
MACF1
Microsatellite
(inframe_insertion)
not provided
GBenign
MACF1
Deletion
(inframe_deletion)
not provided
GUncertain significance
MACF1
(R12Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MACF1
Duplication
(inframe_insertion)
not provided
GUncertain significance
MACF1
Deletion
(inframe_deletion)
not provided
GUncertain significance
MACF1
(R18W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MACF1
Deletion
(inframe_deletion)
not provided
GUncertain significance
MACF1
Deletion
(nonsense)
not provided
GUncertain significance
MACF1
(R27G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MACF1
(S28T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MACF1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MACF1
(R30Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MACF1
(S31L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
MACF1
Single nucleotide variant
(synonymous variant)
Lissencephaly 9 with complex brainstem malformation
+1 more
GBenign
MACF1
(L49M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MACF1
(R55W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MACF1
(S60L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MACF1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MACF1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MACF1
Single nucleotide variant
(intron variant)
not provided
GBenign
MACF1
Single nucleotide variant
(intron variant)
not provided
GBenign
MACF1
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC129930209, MACF1
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC129930209, MACF1
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC129930210, MACF1
Single nucleotide variant
(intron variant)
not provided
GBenign
MACF1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MACF1
Single nucleotide variant
(splice donor variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
MACF1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MACF1
(N100S +1 more)
Single nucleotide variant
(missense variant)
Spectraplakinopathy type I
+3 more
GConflicting classifications of pathogenicity
MACF1
(D101Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MACF1
(R107W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MACF1
(L115V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MACF1
(L119V +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GLikely benign
MACF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
MACF1
Single nucleotide variant
(intron variant)
not provided
GBenign
MACF1
(P125A +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(H129R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MACF1
(R144* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
MACF1
(R144Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MACF1
Single nucleotide variant
(intron variant)
not provided
GBenign
MACF1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MACF1
(K147T +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
Single nucleotide variant
(intron variant)
not provided
GBenign
MACF1
Single nucleotide variant
(intron variant)
not provided
GBenign
MACF1
(I182V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MACF1
Single nucleotide variant
(synonymous variant)
MACF1-related disorder
GLikely benign
MACF1
(L197del +1 more)
Deletion
(inframe_deletion)
not provided
GUncertain significance
MACF1
(T199I +1 more)
Single nucleotide variant
(missense variant)
MACF1-related disorder
GUncertain significance
MACF1
(A204G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MACF1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MACF1
(I214M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MACF1
(S216C +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MACF1
(S216F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MACF1
Duplication
(inframe_insertion)
MACF1-related disorder
GUncertain significance
MACF1
(R230Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MACF1
Single nucleotide variant
(intron variant)
not provided
GBenign
MACF1
Single nucleotide variant
(intron variant)
not provided
GBenign
MACF1
Single nucleotide variant
(intron variant)
not provided
GBenign
MACF1
Single nucleotide variant
(intron variant)
not provided
GBenign
MACF1
(V241L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MACF1
(E248D +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
+1 more
GConflicting classifications of pathogenicity
MACF1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
MACF1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MACF1
Microsatellite
(intron variant)
MACF1-related disorder
GLikely benign
MACF1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MACF1
(D277H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MACF1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MACF1
(V285G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MACF1
(E300G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MACF1
(G301R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MACF1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MACF1
(W316C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MACF1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MACF1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MACF1
(Q332E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
MACF1
(L331P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MACF1
(P338T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
MACF1
Single nucleotide variant
(intron variant)
not provided
GBenign
MACF1
(I352L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MACF1
(Y373C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MACF1
(L381V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MACF1
Single nucleotide variant
(intron variant)
not provided
GBenign
MACF1
Duplication
(intron variant)
not provided
GLikely benign
MACF1
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
MACF1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MACF1
(G383R +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(G383fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
MACF1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MACF1
(K386I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
MACF1
(P388L +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
MACF1
(R415L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MACF1
(R415Q +1 more)
Single nucleotide variant
(missense variant)
MACF1-related disorder
GLikely benign
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