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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLDN10
(N48H)
Single nucleotide variant
(missense variant +1 more)
HELIX syndrome
GLikely pathogenic
CLDN10
(W46*)
Single nucleotide variant
HELIX syndrome
GPathogenic
CLDN10
(P197fs +2 more)
Deletion
(frameshift variant)
HELIX syndrome
GPathogenic/Likely pathogenic
CLDN10
(M1T)
Single nucleotide variant
(missense variant +2 more)
HELIX syndrome
GPathogenic
CLDN10
(S131L +2 more)
Single nucleotide variant
(missense variant)
HELIX syndrome
GPathogenic
CLDN10
(N48K)
Single nucleotide variant
(missense variant +1 more)
HELIX syndrome
GPathogenic
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