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Links from MedGen

Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTC7A
Single nucleotide variant
(splice donor variant)
Gastrointestinal defects and immunodeficiency syndrome 1
GLikely pathogenic
TTC7A
(M65V +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple gastrointestinal atresias
GUncertain significance
TTC7A
(R112W +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple gastrointestinal atresias
+1 more
GUncertain significance
TTC7A
Single nucleotide variant
(splice donor variant)
Gastrointestinal defects and immunodeficiency syndrome 1
GPathogenic
TTC7A
Single nucleotide variant
(splice acceptor variant)
Gastrointestinal defects and immunodeficiency syndrome 1
+2 more
GPathogenic/Likely pathogenic
TTC7A
Single nucleotide variant
(intron variant)
Gastrointestinal defects and immunodeficiency syndrome 1
+2 more
GBenign
TTC7A
Single nucleotide variant
(intron variant)
Gastrointestinal defects and immunodeficiency syndrome 1
+2 more
GBenign
TTC7A
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
TTC7A
Single nucleotide variant
(synonymous variant)
Gastrointestinal defects and immunodeficiency syndrome 1
+3 more
GBenign
TTC7A
(V184L +2 more)
Single nucleotide variant
(missense variant)
Gastrointestinal defects and immunodeficiency syndrome 1
+3 more
GBenign
TTC7A
(F30fs +1 more)
Deletion
(frameshift variant +1 more)
Multiple gastrointestinal atresias
+1 more
GPathogenic/Likely pathogenic
TTC7A
(C265S +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple gastrointestinal atresias
+1 more
GUncertain significance
TTC7A
(C269* +2 more)
Single nucleotide variant
(nonsense)
Gastrointestinal defects and immunodeficiency syndrome 1
+1 more
GPathogenic
TTC7A
Single nucleotide variant
(splice acceptor variant)
Gastrointestinal defects and immunodeficiency syndrome 1
+1 more
GPathogenic/Likely pathogenic
LOC126806211, TTC7A
(R152C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
TTC7A
(A815S +3 more)
Single nucleotide variant
(missense variant)
Gastrointestinal defects and immunodeficiency syndrome 1
+1 more
GUncertain significance
TTC7A
(T299A +3 more)
Single nucleotide variant
(missense variant)
Gastrointestinal defects and immunodeficiency syndrome 1
+2 more
GUncertain significance
TTC7A
(Q828H +3 more)
Single nucleotide variant
(missense variant)
Multiple gastrointestinal atresias
+3 more
GConflicting classifications of pathogenicity
TTC7A
(D63E +1 more)
Single nucleotide variant
(missense variant +1 more)
Gastrointestinal defects and immunodeficiency syndrome 1
+1 more
GConflicting classifications of pathogenicity
TTC7A, MCFD2
(R48G)
Single nucleotide variant
(missense variant +2 more)
Gastrointestinal defects and immunodeficiency syndrome 1
+1 more
GUncertain significance
LOC126806211, TTC7A
(R154H +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple gastrointestinal atresias
+2 more
GConflicting classifications of pathogenicity
MCFD2, TTC7A
(P59R)
Single nucleotide variant
(missense variant +2 more)
TTC7A-related condition
+3 more
GConflicting classifications of pathogenicity
TTC7A
(R325Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
TTC7A
(V545I +2 more)
Single nucleotide variant
(missense variant)
Gastrointestinal defects and immunodeficiency syndrome 1
+2 more
GConflicting classifications of pathogenicity
TTC7A
(R112L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
Multiple gastrointestinal atresias
GPathogenic
TTC7A
(S505L +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TTC7A
(Q361fs +2 more)
Duplication
(frameshift variant)
Gastrointestinal defects and immunodeficiency syndrome 1
+1 more
GPathogenic
TTC7A
(E62* +1 more)
Single nucleotide variant
(nonsense +1 more)
Gastrointestinal defects and immunodeficiency syndrome 1
+1 more
GPathogenic
TTC7A
(K606R +2 more)
Single nucleotide variant
(missense variant)
Gastrointestinal defects and immunodeficiency syndrome 1
+4 more
GConflicting classifications of pathogenicity
TTC7A
(S672P +3 more)
Single nucleotide variant
(missense variant)
Gastrointestinal defects and immunodeficiency syndrome 1
+4 more
GConflicting classifications of pathogenicity
TTC7A
(S672P +6 more)
Single nucleotide variant
(missense variant)
Multiple gastrointestinal atresias
GPathogenic
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