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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TCOF1
(T168M)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
TCOF1
Deletion
(inframe_deletion +1 more)
not provided
+3 more
GBenign/Likely benign
TCOF1
(S266N +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
TCOF1
(E268G +1 more)
Single nucleotide variant
(missense variant)
Treacher Collins syndrome 1
+2 more
GConflicting classifications of pathogenicity
TCOF1
(S410L +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
TCOF1
(V518I +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
TCOF1
(S619R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
TCOF1
(P672S +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
TCOF1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TCOF1
(P844L +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
TCOF1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
TCOF1
(Y1206C +5 more)
Single nucleotide variant
(missense variant)
Treacher Collins syndrome 1
+1 more
GConflicting classifications of pathogenicity
TCOF1
(A1237T +5 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
TCOF1
(K1258R +5 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
TCOF1
(K1289Q +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
TCOF1
(P1472L +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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