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Items: 1 to 100 of 122

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HS6ST1
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
HS6ST1
Deletion
(3 prime UTR variant)
not provided
GBenign
HS6ST1
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
HS6ST1
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
HS6ST1
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
HS6ST1
(H406Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HS6ST1
(S405G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HS6ST1
(M404V)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 15 with anosmia
Grisk factor
HS6ST1
(E401K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HS6ST1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HS6ST1
Single nucleotide variant
(synonymous variant)
See cases
GUncertain significance
HS6ST1
(V398A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HS6ST1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HS6ST1
(G396C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HS6ST1
(P395L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HS6ST1
(D393N)
Single nucleotide variant
(missense variant)
not provided
GBenign
HS6ST1
(R382Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HS6ST1
(R382W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
HS6ST1
(R378H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HS6ST1
(R378C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HS6ST1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HS6ST1
(R375H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HS6ST1
(R375C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HS6ST1
(S374N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HS6ST1
(R371H)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
+1 more
GBenign/Likely benign
HS6ST1
(R371C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HS6ST1
(R367H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HS6ST1
(R367C)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
HS6ST1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
HS6ST1
(R358C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HS6ST1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HS6ST1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HS6ST1
(E339D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HS6ST1
(E338K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HS6ST1
(R335Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HS6ST1
(V329M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HS6ST1
(V327M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HS6ST1
(R323Q)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 15 with anosmia
Grisk factor
HS6ST1
(T322M)
Single nucleotide variant
(missense variant)
HS6ST1-related disorder
GUncertain significance
HS6ST1
(Y319N)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 15 with or without anosmia
GUncertain significance
HS6ST1
(R314Q)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
HS6ST1
(N309S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
HS6ST1
(T307M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HS6ST1
(R306Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HS6ST1
(R306W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HS6ST1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HS6ST1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HS6ST1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HS6ST1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HS6ST1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HS6ST1
(R286Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HS6ST1
(K283R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HS6ST1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HS6ST1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HS6ST1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HS6ST1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HS6ST1
(I268V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HS6ST1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HS6ST1
(R249H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HS6ST1
(R249S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
HS6ST1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HS6ST1
(P242L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HS6ST1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HS6ST1
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
HS6ST1
(T234M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HS6ST1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HS6ST1
(P218S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HS6ST1
(T217M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HS6ST1
(T215M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HS6ST1
(R214H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HS6ST1
(V198M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HS6ST1
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
HS6ST1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HS6ST1
Single nucleotide variant
(intron variant)
not provided
GBenign
HS6ST1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HS6ST1
Single nucleotide variant
(intron variant)
not provided
GBenign
HS6ST1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HS6ST1
Single nucleotide variant
(intron variant)
not provided
GBenign
HS6ST1
Single nucleotide variant
(intron variant)
not provided
GBenign
HS6ST1
Single nucleotide variant
(intron variant)
not provided
GBenign
HS6ST1
(R140G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HS6ST1
Single nucleotide variant
(synonymous variant)
HS6ST1-related disorder
GLikely benign
HS6ST1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
HS6ST1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HS6ST1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HS6ST1
(P115Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HS6ST1
(V114G)
Single nucleotide variant
(missense variant)
not provided
GBenign
HS6ST1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HS6ST1
(H105Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HS6ST1
(G99S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HS6ST1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HS6ST1
(D87E)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 7 with or without anosmia
+1 more
GBenign/Likely benign
HS6ST1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HS6ST1
(S78L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HS6ST1
Single nucleotide variant
(synonymous variant)
HS6ST1-related disorder
GBenign
HS6ST1
(Y69C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HS6ST1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HS6ST1
Single nucleotide variant
(synonymous variant)
HS6ST1-related disorder
GLikely benign
HS6ST1
(H63N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HS6ST1
(H63D)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
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