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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHMP1A
(A22V)
Single nucleotide variant
(synonymous variant +2 more)
Pontocerebellar hypoplasia type 8
GUncertain significance
CHMP1A
Single nucleotide variant
(splice acceptor variant)
Pontocerebellar hypoplasia type 8
GLikely pathogenic
CHMP1A
(D86G +1 more)
Single nucleotide variant
(missense variant +1 more)
Pontocerebellar hypoplasia type 8
GUncertain significance
CHMP1A
(A222T)
Single nucleotide variant
(missense variant +2 more)
Pontocerebellar hypoplasia type 8
GUncertain significance
CHMP1A
(C44S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
CHMP1A
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 8
GUncertain significance
CHMP1A
(R62C)
Single nucleotide variant
(missense variant +2 more)
Pontocerebellar hypoplasia type 8
+1 more
GConflicting classifications of pathogenicity
CHMP1A
(A11T)
Single nucleotide variant
(missense variant +2 more)
CHMP1A-related condition
+3 more
GConflicting classifications of pathogenicity
CHMP1A
Single nucleotide variant
(intron variant)
Pontocerebellar hypoplasia type 8
GPathogenic
CHMP1A
(Q30* +1 more)
Single nucleotide variant
(missense variant +2 more)
Pontocerebellar hypoplasia type 8
+1 more
GConflicting classifications of pathogenicity
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