U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTCHD1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign
PTCHD1
(N219S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTCHD1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
PTCHD1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GUncertain significance
PTCHD1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PTCHD1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
PTCHD1
(V335I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTCHD1
(T344I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PTCHD1
(D370E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
PTCHD1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
PTCHD1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
PTCHD1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
PTCHD1
(V681I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination