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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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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