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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
THTPA, ZFHX2
(E2012K)
Single nucleotide variant
(missense variant)
Indifference to pain, congenital, autosomal dominant
GUncertain significance
THTPA, ZFHX2
Single nucleotide variant
(intron variant)
Indifference to pain, congenital, autosomal dominant
GBenign
THTPA, ZFHX2
Single nucleotide variant
(intron variant)
Indifference to pain, congenital, autosomal dominant
GBenign
THTPA, ZFHX2
(V1545A)
Single nucleotide variant
(missense variant)
Indifference to pain, congenital, autosomal dominant
+1 more
GBenign
THTPA, ZFHX2
(S2137R)
Single nucleotide variant
(missense variant)
Indifference to pain, congenital, autosomal dominant
+1 more
GBenign
THTPA, ZFHX2
(R1913K)
Single nucleotide variant
(missense variant)
Indifference to pain, congenital, autosomal dominant
GPathogenic
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