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Links from MedGen

Items: 1 to 100 of 116

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MACF1
(R1651C +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(R1012fs +1 more)
Deletion
(frameshift variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(I1970V +2 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(K147T +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
Single nucleotide variant
(splice acceptor variant)
Lissencephaly 9 with complex brainstem malformation
GLikely pathogenic
MACF1
(N706Y +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
Copy number loss
Lissencephaly 9 with complex brainstem malformation
+1 more
GUncertain significance
MACF1
Single nucleotide variant
(splice acceptor variant)
Lissencephaly 9 with complex brainstem malformation
GLikely pathogenic
MACF1
Single nucleotide variant
(splice donor variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(E2941K +2 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(P2472A +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
LOC114803468, MACF1
(Q2841H +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
+1 more
GUncertain significance
MACF1
(R3277P +2 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GLikely pathogenic
MACF1
(V3294M +2 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GLikely pathogenic
MACF1
Single nucleotide variant
(splice donor variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(I132N +3 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(G383R +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(Q508K +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(L1460W +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(R1233Q +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(A2494fs +1 more)
Duplication
(frameshift variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(R2377fs)
Duplication
(frameshift variant +1 more)
Lissencephaly 9 with complex brainstem malformation
GLikely pathogenic
MACF1
(T1320A +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
Gnot provided
MACF1
(G3580D +2 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
+2 more
GLikely benign
MACF1
(V5095F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign
MACF1
(R1627H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
MACF1
(Q3473E +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GBenign/Likely benign
MACF1
Single nucleotide variant
(intron variant)
Lissencephaly 9 with complex brainstem malformation
+2 more
GBenign/Likely benign
MACF1
(P4952L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
MACF1
(A2728V +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
MACF1
(H1120L +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
MACF1
(S1853P +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
MACF1
(V1692I +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
MACF1
(A2762V +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
+3 more
GLikely benign
MACF1
(R30Q)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
+2 more
GUncertain significance
LOC126805711, MACF1
(K1957R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MACF1
(Q1638R +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
LOC126805711, MACF1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
MACF1
(R3288H +2 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GLikely pathogenic
MACF1
(R2377S +2 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(Y957C +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(G1280R +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(R3265S +2 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GLikely pathogenic
MACF1
(Q2027* +1 more)
Single nucleotide variant
(nonsense)
Lissencephaly 9 with complex brainstem malformation
GPathogenic
MACF1
(L653F +1 more)
Single nucleotide variant
Lissencephaly 9 with complex brainstem malformation
GLikely pathogenic
MACF1
(N2320S +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
+1 more
GBenign/Likely benign
MACF1
Single nucleotide variant
(synonymous variant)
Lissencephaly 9 with complex brainstem malformation
+1 more
GBenign/Likely benign
MACF1
Single nucleotide variant
(synonymous variant)
Lissencephaly 9 with complex brainstem malformation
+1 more
GBenign/Likely benign
MACF1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
MACF1
Single nucleotide variant
(synonymous variant)
Lissencephaly 9 with complex brainstem malformation
+1 more
GBenign/Likely benign
MACF1
Single nucleotide variant
(intron variant)
Lissencephaly 9 with complex brainstem malformation
+1 more
GBenign
MACF1
(E3943K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
MACF1
(S2132N +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(H2189R +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(T4230M +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(R4805Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MACF1
(P388L +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(E3128del +1 more)
Microsatellite
(inframe_deletion)
not provided
+1 more
GUncertain significance
MACF1
(L4806F +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(E248D +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
+1 more
GConflicting classifications of pathogenicity
MACF1
(R12Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MACF1
(R4946W +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
+1 more
GUncertain significance
MACF1
(D606V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MACF1
(E4583Q +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(R2523Q +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
+1 more
GBenign
MACF1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
MACF1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
MACF1
(S4670T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
MACF1
(A4350T +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
MACF1
Single nucleotide variant
(synonymous variant)
Lissencephaly 9 with complex brainstem malformation
+1 more
GBenign
MACF1
Single nucleotide variant
(intron variant)
Lissencephaly 9 with complex brainstem malformation
+2 more
GBenign
MACF1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
MACF1
Single nucleotide variant
(synonymous variant)
Lissencephaly 9 with complex brainstem malformation
+1 more
GBenign
MACF1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MACF1
Single nucleotide variant
(intron variant)
MACF1-related disorder
+2 more
GBenign
MACF1
Single nucleotide variant
(synonymous variant)
Lissencephaly 9 with complex brainstem malformation
+1 more
GBenign
MACF1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
MACF1
(M2290V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
MACF1
Single nucleotide variant
(synonymous variant)
MACF1-related disorder
+2 more
GBenign
MACF1
(M2532L +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
+1 more
GBenign
MACF1
(Q4413H +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(R2266Q +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GLikely benign
MACF1
(G3129W +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(R1372C +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
(K1248E +1 more)
Single nucleotide variant
(missense 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
(R964C +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
(H4911Q +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
(L2039V +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
MACF1
(N100S +1 more)
Single nucleotide variant
(missense variant)
Spectraplakinopathy type I
+3 more
GConflicting classifications of pathogenicity
MACF1
Single nucleotide variant
(synonymous variant)
Lissencephaly 9 with complex brainstem malformation
+1 more
GConflicting classifications of pathogenicity
MACF1
(R605Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
MACF1
(N4925K +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
(P4298L +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GUncertain significance
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