U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCDH15
(P1761fs +8 more)
Deletion
(frameshift variant +1 more)
Usher syndrome type 1F
+2 more
GConflicting classifications of pathogenicity
PCDH15
(S1616* +8 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
PCDH15
(R1476fs +8 more)
Deletion
(frameshift variant +1 more)
not provided
GLikely pathogenic
PCDH15
(S1514fs +8 more)
Duplication
(frameshift variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
PCDH15
(S1465fs +8 more)
Duplication
(frameshift variant +1 more)
not provided
GPathogenic
PCDH15
Duplication
(intron variant +1 more)
not provided
GConflicting classifications of pathogenicity
PCDH15
(Y1240C +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PCDH15
(R1256Q +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PCDH15
(R1202H +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PCDH15
(R1106* +6 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1F
+5 more
GPathogenic/Likely pathogenic
PCDH15
(D712fs +6 more)
Deletion
(frameshift variant)
not provided
+1 more
GLikely pathogenic
PCDH15
(N689D +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PCDH15
(E501K +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PCDH15
(R343K +3 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
PCDH15
(R275H +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PCDH15
(R245* +3 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1F
+5 more
GPathogenic
PCDH15
(R112Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination