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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SERPINH1
(G31A)
Single nucleotide variant
(missense variant)
SERPINH1-related condition
+2 more
GConflicting classifications of pathogenicity
SERPINH1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
SERPINH1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
SERPINH1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
SERPINH1
(E193D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SERPINH1
Indel
(missense variant)
not provided
GUncertain significance
SERPINH1
(R194S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 10
+3 more
GConflicting classifications of pathogenicity
SERPINH1
(R239L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SERPINH1
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
SERPINH1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
SERPINH1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SERPINH1
(P277T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SERPINH1
(L321fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
SERPINH1
(V351M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SERPINH1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GUncertain significance
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