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Items: 60

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MCPH1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
MCPH1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MCPH1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GConflicting classifications of pathogenicity
MCPH1
(F43S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MCPH1
(D61G +2 more)
Single nucleotide variant
(missense variant +1 more)
MCPH1-related condition
+3 more
GConflicting classifications of pathogenicity
MCPH1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
MCPH1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MCPH1
(S102T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GLikely benign
MCPH1
Single nucleotide variant
(synonymous variant)
MCPH1-related condition
+3 more
GConflicting classifications of pathogenicity
MCPH1
(V149I +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MCPH1
Single nucleotide variant
(synonymous variant +2 more)
MCPH1-related condition
+3 more
GConflicting classifications of pathogenicity
MCPH1
(E177A +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
MCPH1
(S206G +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MCPH1
Single nucleotide variant
(intron variant)
MCPH1-related condition
+1 more
GConflicting classifications of pathogenicity
MCPH1
(S234C +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MCPH1
(K259Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MCPH1
(S287R +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MCPH1
(V310I +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MCPH1
(V311G +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MCPH1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
MCPH1
(T325M +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
MCPH1
(Y330C +3 more)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 1, primary, autosomal recessive
+2 more
GBenign/Likely benign
MCPH1
(R373T +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
MCPH1
(D392G +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
MCPH1
(L405P +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
MCPH1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign/Likely benign
MCPH1
(Y425N +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MCPH1
(K450T +3 more)
Single nucleotide variant
(missense variant +1 more)
MCPH1-related condition
+2 more
GConflicting classifications of pathogenicity
MCPH1
(E457K +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MCPH1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign
MCPH1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
MCPH1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
MCPH1
(A494T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
MCPH1
(V499M +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
MCPH1
(E521* +3 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MCPH1
(E554V +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
MCPH1
(T559fs +3 more)
Deletion
(frameshift variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
MCPH1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MCPH1
(T594M +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
MCPH1
(T594R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
MCPH1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
MCPH1
(D622Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MCPH1
(K644E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MCPH1
(R693C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MCPH1
(R703H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
MCPH1
(W712C)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
MCPH1, ANGPT2
(W715*)
Single nucleotide variant
(3 prime UTR variant +2 more)
Autosomal recessive primary microcephaly
+3 more
GConflicting classifications of pathogenicity
ANGPT2, MCPH1
(P727L)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+3 more
GConflicting classifications of pathogenicity
MCPH1, MCPH1-AS1
Single nucleotide variant
(intron variant +1 more)
not specified
+2 more
GBenign
MCPH1, MCPH1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+2 more
GBenign
MCPH1, MCPH1-AS1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
MCPH1, MCPH1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GBenign/Likely benign
MCPH1, MCPH1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+2 more
GBenign/Likely benign
MCPH1, MCPH1-AS1
(A761V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
MCPH1-AS1, MCPH1
(S801G +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MCPH1, MCPH1-AS1
(G802R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MCPH1, MCPH1-AS1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
MCPH1, MCPH1-AS1
(S812P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MCPH1, MCPH1-AS1
Microsatellite
(intron variant)
not provided
GUncertain significance
MCPH1-AS1, MCPH1
(P828S +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
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