U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHMP1A
(Q186H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHMP1A
(V60I)
Single nucleotide variant
(missense variant +2 more)
CHMP1A-related condition
+2 more
GConflicting classifications of pathogenicity
CHMP1A
(R43*)
Single nucleotide variant
(nonsense +2 more)
not provided
GConflicting classifications of pathogenicity
CHMP1A
(A32T)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
CHMP1A
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
Format
Sort by
Choose Destination