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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTPN14
(I1167T)
Single nucleotide variant
(missense variant)
Lymphedema-posterior choanal atresia syndrome
+1 more
GUncertain significance
PTPN14
(M866V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PTPN14
(P722S)
Single nucleotide variant
(missense variant)
Lymphedema-posterior choanal atresia syndrome
GUncertain significance
PTPN14
(P525L)
Single nucleotide variant
(missense variant)
Lymphedema-posterior choanal atresia syndrome
GUncertain significance
PTPN14
(I239F)
Single nucleotide variant
(missense variant)
Lymphedema-posterior choanal atresia syndrome
GUncertain significance
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