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Links from MedGen

Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRAF7
(L315G)
Indel
(missense variant)
Cardiac, facial, and digital anomalies with developmental delay
GUncertain significance
TRAF7
(A444V)
Single nucleotide variant
(missense variant)
Cardiac, facial, and digital anomalies with developmental delay
GUncertain significance
TRAF7
(R653L)
Single nucleotide variant
(missense variant)
Cardiac, facial, and digital anomalies with developmental delay
GPathogenic
TRAF7
(V163M)
Single nucleotide variant
(missense variant)
Cardiac, facial, and digital anomalies with developmental delay
GUncertain significance
TRAF7
(T596M)
Single nucleotide variant
(missense variant)
Cardiac, facial, and digital anomalies with developmental delay
GUncertain significance
TRAF7
(A195V)
Single nucleotide variant
(missense variant)
Cardiac, facial, and digital anomalies with developmental delay
GUncertain significance
TRAF7
(V554I)
Single nucleotide variant
(missense variant)
Cardiac, facial, and digital anomalies with developmental delay
GUncertain significance
TRAF7
(V523L)
Single nucleotide variant
(missense variant)
Cardiac, facial, and digital anomalies with developmental delay
GUncertain significance
TRAF7
(R371Q)
Single nucleotide variant
(missense variant)
Cardiac, facial, and digital anomalies with developmental delay
GLikely pathogenic
TRAF7
(L640P)
Single nucleotide variant
(missense variant)
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
+1 more
GConflicting classifications of pathogenicity
TRAF7
Single nucleotide variant
(intron variant)
Cardiac, facial, and digital anomalies with developmental delay
GUncertain significance
TRAF7
(L595V)
Single nucleotide variant
(missense variant)
Cardiac, facial, and digital anomalies with developmental delay
GLikely pathogenic
TRAF7
(G600S)
Single nucleotide variant
(missense variant)
Cardiac, facial, and digital anomalies with developmental delay
GConflicting classifications of pathogenicity
TRAF7
Single nucleotide variant
(synonymous variant)
Cardiac, facial, and digital anomalies with developmental delay
+1 more
GConflicting classifications of pathogenicity
TRAF7
(S558F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
TRAF7
Single nucleotide variant
(splice acceptor variant)
Cardiac, facial, and digital anomalies with developmental delay
GUncertain significance
TRAF7
(R355W)
Single nucleotide variant
(missense variant)
Cardiac, facial, and digital anomalies with developmental delay
GUncertain significance
TRAF7
(S629N)
Single nucleotide variant
(missense variant)
Cardiac, facial, and digital anomalies with developmental delay
GLikely pathogenic
TRAF7
(R524W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TRAF7
(D504H)
Single nucleotide variant
(missense variant)
Cardiac, facial, and digital anomalies with developmental delay
GUncertain significance
TRAF7
(R371G)
Single nucleotide variant
(missense variant)
Cardiac, facial, and digital anomalies with developmental delay
GPathogenic
TRAF7
(K346E)
Single nucleotide variant
(missense variant)
Cardiac, facial, and digital anomalies with developmental delay
GPathogenic
TRAF7
(T601A)
Single nucleotide variant
(missense variant)
Cardiac, facial, and digital anomalies with developmental delay
GPathogenic
TRAF7
(R655Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
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