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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GHRHR
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
GHRHR
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
GHRHR
(A57T)
Single nucleotide variant
(missense variant)
GHRHR-related condition
+4 more
GBenign
GHRHR
(W65*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
GHRHR
(N162D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GHRHR
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GHRHR
(T171S)
Single nucleotide variant
(missense variant)
Isolated growth hormone deficiency type IB
+1 more
GConflicting classifications of pathogenicity
GHRHR
(A184P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GHRHR
Single nucleotide variant
(synonymous variant)
Isolated growth hormone deficiency type IB
+2 more
GConflicting classifications of pathogenicity
GHRHR
(V225I)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
GHRHR
Single nucleotide variant
(synonymous variant)
GHRHR-related condition
+3 more
GConflicting classifications of pathogenicity
GHRHR
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
GHRHR
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
GHRHR
(D350G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GHRHR
(L364fs)
Deletion
(frameshift variant)
not provided
GPathogenic
GHRHR
(M422T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
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