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Links from MedGen

Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRPV6
(G657R)
Single nucleotide variant
(missense variant)
Hyperparathyroidism, transient neonatal
GUncertain significance
TRPV6
(W85*)
Single nucleotide variant
(nonsense)
Hyperparathyroidism, transient neonatal
GLikely pathogenic
TRPV6
(V239fs)
Deletion
(frameshift variant)
Hyperparathyroidism, transient neonatal
GLikely pathogenic
TRPV6
(D324N)
Single nucleotide variant
(missense variant)
Hyperparathyroidism, transient neonatal
GUncertain significance
TRPV6
(T238R)
Single nucleotide variant
(missense variant)
Hyperparathyroidism, transient neonatal
GUncertain significance
TRPV6
(A175V)
Single nucleotide variant
(missense variant)
Hyperparathyroidism, transient neonatal
GUncertain significance
TRPV6
(D582N)
Single nucleotide variant
(missense variant)
Hyperparathyroidism, transient neonatal
GUncertain significance
TRPV6
(Y549C)
Single nucleotide variant
(missense variant)
Hyperparathyroidism, transient neonatal
GLikely pathogenic
TRPV6
Single nucleotide variant
(synonymous variant)
Hyperparathyroidism, transient neonatal
+1 more
GBenign/Likely benign
TRPV6
(R483W)
Single nucleotide variant
(missense variant)
Hyperparathyroidism, transient neonatal
GLikely pathogenic
TRPV6
(G428R)
Single nucleotide variant
(missense variant)
Hyperparathyroidism, transient neonatal
GLikely pathogenic
TRPV6
(C212Y)
Single nucleotide variant
(missense variant)
Hyperparathyroidism, transient neonatal
GLikely pathogenic
TRPV6
Single nucleotide variant
(intron variant)
Hyperparathyroidism, transient neonatal
GPathogenic
TRPV6
Deletion
(frameshift variant)
Hyperparathyroidism, transient neonatal
GPathogenic
TRPV6
(G451E)
Single nucleotide variant
(missense variant)
Hyperparathyroidism, transient neonatal
GLikely pathogenic
TRPV6
(R425Q)
Single nucleotide variant
(missense variant)
Hyperparathyroidism, transient neonatal
GLikely pathogenic
TRPV6
(I223T)
Single nucleotide variant
(missense variant)
Hyperparathyroidism, transient neonatal
+1 more
GConflicting classifications of pathogenicity
TRPV6
(R179fs)
Duplication
(frameshift variant)
Hyperparathyroidism, transient neonatal
+1 more
GPathogenic
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