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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HEPHL1
(Y215*)
Duplication
(nonsense)
Pili torti-developmental delay-neurological abnormalities syndrome
GLikely pathogenic
HEPHL1
Deletion
Pili torti-developmental delay-neurological abnormalities syndrome
GLikely pathogenic
HEPHL1
Single nucleotide variant
(intron variant)
Pili torti-developmental delay-neurological abnormalities syndrome
GBenign
HEPHL1
Single nucleotide variant
(intron variant)
Pili torti-developmental delay-neurological abnormalities syndrome
GBenign
HEPHL1
(N251D)
Single nucleotide variant
(missense variant)
Pili torti-developmental delay-neurological abnormalities syndrome
GBenign
HEPHL1
(D1017G)
Single nucleotide variant
(missense variant)
Pili torti-developmental delay-neurological abnormalities syndrome
GUncertain significance
HEPHL1
(M1059T)
Single nucleotide variant
(missense variant)
Pili torti-developmental delay-neurological abnormalities syndrome
GPathogenic
HEPHL1
(A355T)
Single nucleotide variant
(missense variant)
Pili torti-developmental delay-neurological abnormalities syndrome
GPathogenic
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