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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MID1, LOC126863207
(P667L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
LOC126863207, MID1
(T663I +1 more)
Single nucleotide variant
(missense variant)
MID1-related condition
+2 more
GConflicting classifications of pathogenicity
LOC126863207, MID1
(H562fs +1 more)
Duplication
(frameshift variant)
X-linked Opitz G/BBB syndrome
+1 more
GPathogenic
LOC126863207, MID1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
LOC126863207, MID1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
LOC126863207, MID1
(I555L +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
LOC126863207, MID1
Deletion
(splice acceptor variant)
not provided
GPathogenic
MID1
(R521C +1 more)
Single nucleotide variant
(missense variant)
MID1-related condition
+2 more
GBenign/Likely benign
MID1
(S513P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MID1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MID1
(S483fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
MID1
Duplication
(inframe_insertion)
not provided
GUncertain significance
MID1
(S398* +1 more)
Duplication
(nonsense)
not provided
GPathogenic
MID1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
MID1
(V428I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MID1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
MID1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
MID1
(A316E +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MID1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign
MID1
Deletion
(inframe_deletion)
not provided
GUncertain significance
MID1
(K312fs +2 more)
Deletion
(frameshift variant)
not provided
GPathogenic
MID1
Duplication
(intron variant)
not specified
+1 more
GBenign
MID1
Duplication
(intron variant)
not specified
+1 more
GBenign
MID1
Deletion
(intron variant)
not specified
GBenign/Likely benign
MID1
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+3 more
GBenign/Likely benign
MID1
Single nucleotide variant
(synonymous variant)
MID1-related condition
+4 more
GBenign/Likely benign
MID1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
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