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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TXNDC15
(L212P +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome 14
GPathogenic
TXNDC15
(Q3fs +1 more)
Duplication
(frameshift variant)
Meckel syndrome 14
GPathogenic
TXNDC15
(S253fs +1 more)
Duplication
(frameshift variant)
Meckel syndrome 14
GPathogenic
TXNDC15
(R214* +1 more)
Single nucleotide variant
(nonsense)
Meckel-Gruber syndrome
GPathogenic
TXNDC15
Single nucleotide variant
(intron variant +1 more)
Meckel syndrome 14
GPathogenic
TXNDC15
Deletion
(inframe_deletion)
Meckel syndrome 14
GPathogenic
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