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Links from MedGen

Items: 49

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HTRA2
Single nucleotide variant
(synonymous variant +1 more)
3-methylglutaconic aciduria type 8
+2 more
GLikely benign
HTRA2
(G26E)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
HTRA2, LOXL3
Single nucleotide variant
(3 prime UTR variant +1 more)
Parkinson disease 13, autosomal dominant, susceptibility to
GUncertain significance
HTRA2
Single nucleotide variant
(5 prime UTR variant +1 more)
Parkinson disease 13, autosomal dominant, susceptibility to
GUncertain significance
AUP1, HTRA2
Single nucleotide variant
(5 prime UTR variant +1 more)
Parkinson disease 13, autosomal dominant, susceptibility to
GLikely benign
HTRA2, LOXL3
Single nucleotide variant
(3 prime UTR variant +1 more)
Parkinson disease 13, autosomal dominant, susceptibility to
GUncertain significance
HTRA2
(R295H +2 more)
Single nucleotide variant
(missense variant +1 more)
Parkinson disease 13, autosomal dominant, susceptibility to
GUncertain significance
AUP1, HTRA2
Single nucleotide variant
(5 prime UTR variant +1 more)
Parkinson disease 13, autosomal dominant, susceptibility to
GUncertain significance
AUP1, HTRA2
Single nucleotide variant
(5 prime UTR variant +2 more)
Parkinson disease 13, autosomal dominant, susceptibility to
GLikely benign
AUP1, HTRA2
Single nucleotide variant
(5 prime UTR variant +2 more)
Parkinson disease 13, autosomal dominant, susceptibility to
GUncertain significance
HTRA2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
HTRA2
Single nucleotide variant
(intron variant)
Parkinson disease 13, autosomal dominant, susceptibility to
+1 more
GLikely benign
HTRA2
Single nucleotide variant
(synonymous variant +1 more)
Parkinson disease 13, autosomal dominant, susceptibility to
GUncertain significance
HTRA2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
HTRA2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
HTRA2, LOXL3
Single nucleotide variant
(3 prime UTR variant +1 more)
Parkinson disease 13, autosomal dominant, susceptibility to
GUncertain significance
HTRA2, LOXL3
Single nucleotide variant
(non-coding transcript variant +1 more)
Parkinson disease 13, autosomal dominant, susceptibility to
GBenign
HTRA2, LOXL3
Single nucleotide variant
(3 prime UTR variant +1 more)
Parkinson disease 13, autosomal dominant, susceptibility to
GUncertain significance
HTRA2, LOXL3
Single nucleotide variant
(non-coding transcript variant +1 more)
Parkinson disease 13, autosomal dominant, susceptibility to
GBenign
HTRA2, LOXL3
Single nucleotide variant
(3 prime UTR variant +1 more)
Parkinson disease 13, autosomal dominant, susceptibility to
GBenign
HTRA2, LOXL3
Single nucleotide variant
(3 prime UTR variant +1 more)
Parkinson disease 13, autosomal dominant, susceptibility to
GUncertain significance
HTRA2, LOXL3
Single nucleotide variant
(3 prime UTR variant +1 more)
Parkinson disease 13, autosomal dominant, susceptibility to
GUncertain significance
HTRA2, LOXL3
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
HTRA2, LOXL3
(T449I +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
HTRA2, LOXL3
Single nucleotide variant
(synonymous variant +3 more)
not provided
+1 more
GLikely benign
HTRA2, LOXL3
Single nucleotide variant
(synonymous variant +3 more)
not provided
+1 more
GConflicting classifications of pathogenicity
HTRA2
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HTRA2
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
HTRA2, LOC129934143
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
HTRA2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
LOC129934140, HTRA2
Single nucleotide variant
(intron variant)
Parkinson disease 13, autosomal dominant, susceptibility to
GUncertain significance
HTRA2, LOC129934140
Single nucleotide variant
(intron variant)
Parkinson disease 13, autosomal dominant, susceptibility to
GUncertain significance
HTRA2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
HTRA2
(A81T)
Single nucleotide variant
(missense variant +1 more)
Parkinson disease 13, autosomal dominant, susceptibility to
GUncertain significance
HTRA2
(L72P)
Single nucleotide variant
(missense variant +1 more)
Parkinson disease 13, autosomal dominant, susceptibility to
+1 more
GBenign/Likely benign
HTRA2
Single nucleotide variant
(5 prime UTR variant +1 more)
Parkinson disease 13, autosomal dominant, susceptibility to
GUncertain significance
HTRA2
Single nucleotide variant
(5 prime UTR variant +1 more)
Parkinson disease 13, autosomal dominant, susceptibility to
GUncertain significance
HTRA2
Single nucleotide variant
(5 prime UTR variant +1 more)
Parkinson disease 13, autosomal dominant, susceptibility to
GBenign
HTRA2
Single nucleotide variant
(5 prime UTR variant +1 more)
Parkinson disease 13, autosomal dominant, susceptibility to
GUncertain significance
HTRA2
Single nucleotide variant
(5 prime UTR variant +1 more)
Parkinson disease 13, autosomal dominant, susceptibility to
GUncertain significance
AUP1, HTRA2
Single nucleotide variant
(5 prime UTR variant +1 more)
Parkinson disease 13, autosomal dominant, susceptibility to
GUncertain significance
HTRA2, AUP1
Single nucleotide variant
(5 prime UTR variant +1 more)
Parkinson disease 13, autosomal dominant, susceptibility to
GUncertain significance
AUP1, HTRA2
Single nucleotide variant
(5 prime UTR variant +1 more)
Parkinson disease 13, autosomal dominant, susceptibility to
GLikely benign
AUP1, HTRA2
(P9S)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
AUP1, HTRA2
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GLikely benign
HTRA2, AUP1
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GBenign
HTRA2
(P143A)
Single nucleotide variant
(missense variant +1 more)
Parkinson disease 13, autosomal dominant, susceptibility to
Grisk factor
HTRA2
(A141S)
Single nucleotide variant
(missense variant +1 more)
Parkinson disease 13, autosomal dominant, susceptibility to
+2 more
GBenign
HTRA2, LOXL3
(G399S)
Single nucleotide variant
(missense variant +3 more)
not provided
+1 more
GBenign/Likely benign
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