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Links from MedGen

Items: 49

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126863207, MID1
(K526fs +1 more)
Duplication
(frameshift variant)
X-linked Opitz G/BBB syndrome
GLikely pathogenic
LOC126863207, MID1
(H562fs +1 more)
Deletion
(frameshift variant)
X-linked Opitz G/BBB syndrome
GLikely pathogenic
MID1
(R434H +1 more)
Single nucleotide variant
(missense variant)
X-linked Opitz G/BBB syndrome
GUncertain significance
MID1
(I193M +1 more)
Single nucleotide variant
(missense variant)
X-linked Opitz G/BBB syndrome
GUncertain significance
MID1
(K245N +2 more)
Single nucleotide variant
(missense variant)
X-linked Opitz G/BBB syndrome
GUncertain significance
MID1
(S512N +1 more)
Single nucleotide variant
(missense variant)
X-linked Opitz G/BBB syndrome
GUncertain significance
MID1
Duplication
(inframe_insertion)
X-linked Opitz G/BBB syndrome
GUncertain significance
MID1
(R330* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
MID1
Microsatellite
(nonsense)
X-linked Opitz G/BBB syndrome
GPathogenic
MID1
(E179K)
Single nucleotide variant
(missense variant)
X-linked Opitz G/BBB syndrome
GUncertain significance
MID1
(Q259* +2 more)
Single nucleotide variant
(nonsense)
X-linked Opitz G/BBB syndrome
GLikely pathogenic
MID1
(S395L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MID1
(W399* +1 more)
Single nucleotide variant
(nonsense)
X-linked Opitz G/BBB syndrome
GLikely pathogenic
MID1
Single nucleotide variant
(splice acceptor variant)
X-linked Opitz G/BBB syndrome
GLikely pathogenic
LOC126863207, MID1
(T604P +1 more)
Single nucleotide variant
(missense variant)
X-linked Opitz G/BBB syndrome
GLikely pathogenic
LOC126863207, MID1
(Y589* +1 more)
Duplication
(nonsense)
X-linked Opitz G/BBB syndrome
GLikely pathogenic
MID1
(H159R)
Single nucleotide variant
(missense variant)
X-linked Opitz G/BBB syndrome
GUncertain significance
MID1
Single nucleotide variant
(splice acceptor variant)
X-linked Opitz G/BBB syndrome
GLikely pathogenic
MID1
Single nucleotide variant
(splice donor variant)
X-linked Opitz G/BBB syndrome
GLikely pathogenic
MID1
(A130T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
MID1
(R36H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MID1
(V461M +1 more)
Single nucleotide variant
(missense variant)
X-linked Opitz G/BBB syndrome
GUncertain significance
LOC126863207, MID1
(T602fs +1 more)
Deletion
(frameshift variant)
X-linked Opitz G/BBB syndrome
GPathogenic
MID1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
LOC126863207, MID1
(Y627* +1 more)
Single nucleotide variant
(nonsense)
X-linked Opitz G/BBB syndrome
GLikely pathogenic
LOC126863207, MID1
(W575* +1 more)
Single nucleotide variant
(nonsense)
X-linked Opitz G/BBB syndrome
GLikely pathogenic
LOC126863207, MID1
(I555V +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
MID1
(S538* +1 more)
Duplication
(nonsense)
X-linked Opitz G/BBB syndrome
GPathogenic
MID1
(P485fs +1 more)
Deletion
(frameshift variant)
X-linked Opitz G/BBB syndrome
GLikely pathogenic
MID1
(A465P +1 more)
Single nucleotide variant
(missense variant)
X-linked Opitz G/BBB syndrome
GPathogenic
MID1
(R359fs +2 more)
Deletion
(frameshift variant)
X-linked Opitz G/BBB syndrome
GLikely pathogenic
MID1
(R277* +2 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
MID1
Single nucleotide variant
(splice acceptor variant)
X-linked Opitz G/BBB syndrome
GPathogenic
MID1
(R495* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
MID1
(Q265R)
Single nucleotide variant
(missense variant +1 more)
X-linked Opitz G/BBB syndrome
GUncertain significance
MID1
(Q454R +1 more)
Single nucleotide variant
(missense variant)
X-linked Opitz G/BBB syndrome
+1 more
GConflicting classifications of pathogenicity
LOC126863207, MID1
(K560R +1 more)
Single nucleotide variant
(missense variant)
X-linked Opitz G/BBB syndrome
+1 more
GUncertain significance
MID1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
LOC126863207, MID1
(P667L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
LOC126863207, MID1
(H562fs +1 more)
Duplication
(frameshift variant)
X-linked Opitz G/BBB syndrome
+1 more
GPathogenic
MID1
(E238* +1 more)
Single nucleotide variant
(nonsense)
X-linked Opitz G/BBB syndrome
GPathogenic
MID1
Microsatellite
(frameshift variant)
Inborn genetic diseases
GPathogenic
MID1
(L295P +2 more)
Single nucleotide variant
(missense variant)
X-linked Opitz G/BBB syndrome
GPathogenic
MID1
Duplication
X-linked Opitz G/BBB syndrome
GPathogenic
MID1
(E115*)
Single nucleotide variant
(nonsense)
X-linked Opitz G/BBB syndrome
GPathogenic
LOC126863207, MID1
(L626P +1 more)
Single nucleotide variant
(missense variant)
X-linked Opitz G/BBB syndrome
GPathogenic
MID1
(E482fs +1 more)
Duplication
(frameshift variant)
X-linked Opitz G/BBB syndrome
GPathogenic
MID1
Duplication
(inframe_insertion)
not provided
GUncertain significance
MID1
(M438del +1 more)
Microsatellite
(inframe_deletion)
X-linked Opitz G/BBB syndrome
GPathogenic
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