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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TCOF1
(A875fs +1 more)
Duplication
(frameshift variant)
Treacher Collins syndrome
Gnot provided
TCOF1
Deletion
(frameshift variant)
Treacher Collins syndrome
Gnot provided
TCOF1
(K215fs)
Deletion
(frameshift variant +1 more)
Treacher Collins syndrome 1
GPathogenic
TCOF1
(L282fs +1 more)
Deletion
(frameshift variant)
Treacher Collins syndrome
GPathogenic
TCOF1
(S341fs +1 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
POLR1B
(R1003S +6 more)
Single nucleotide variant
(missense variant)
Treacher Collins syndrome 4
GPathogenic
POLR1B
(R1003C +6 more)
Single nucleotide variant
(missense variant)
POLR1B-related disorder
GPathogenic
POLR1B
(S682R +6 more)
Single nucleotide variant
(missense variant)
Treacher Collins syndrome 4
GPathogenic
TCOF1
(E1324fs +5 more)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic
POLR1D
(L55V)
Single nucleotide variant
(missense variant +1 more)
Treacher Collins syndrome 2
GPathogenic
TCOF1
(K1381fs +5 more)
Microsatellite
(frameshift variant)
Inborn genetic diseases
+2 more
GPathogenic
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