U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HTRA2, LOXL3
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
HTRA2, LOXL3
(G399S)
Single nucleotide variant
(missense variant +3 more)
not provided
+1 more
GBenign/Likely benign
HTRA2, LOXL3
(R404W)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
+1 more
GUncertain significance
HTRA2, LOXL3
(V359I +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
HTRA2, LOXL3
Single nucleotide variant
(3 prime UTR variant +1 more)
Parkinson disease 13, autosomal dominant, susceptibility to
+1 more
GBenign
LOXL3
(Y309* +2 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
LOXL3
Single nucleotide variant
(intron variant)
not provided
GBenign
LOXL3
(I615F +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
LOXL3
(P233H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOXL3
(R278C +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOXL3
(Q255* +2 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
LOXL3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LOXL3
(L203P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOXL3
(R201W)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DOK1, LOXL3
(C114G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DOK1, LOXL3
(R106L)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
DOK1, LOXL3
(G103E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DOK1, LOC121725097
+1 more
Duplication
(intron variant)
not provided
GBenign
Format
Items per page
Sort by
Choose Destination