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Links from MedGen

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNNT3
(Y13H)
Single nucleotide variant
(missense variant +1 more)
Arthrogryposis, distal, type 2B2
GUncertain significance
TNNT3
(R100H +8 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 2B2
GUncertain significance
TNNT3
(I40T +7 more)
Single nucleotide variant
(missense variant +1 more)
Arthrogryposis, distal, type 2B2
GUncertain significance
TNNT3
Single nucleotide variant
(intron variant)
Arthrogryposis, distal, type 2B2
+1 more
GBenign
TNNT3
Single nucleotide variant
(intron variant)
Arthrogryposis, distal, type 2B2
+1 more
GBenign
TNNT3
Single nucleotide variant
(intron variant)
Arthrogryposis, distal, type 2B2
+1 more
GBenign
TNNT3
(R44S +7 more)
Single nucleotide variant
(missense variant +1 more)
Arthrogryposis, distal, type 2B2
GLikely pathogenic
TNNT3
Single nucleotide variant
(splice acceptor variant)
Arthrogryposis, distal, type 2B2
GPathogenic
TNNT3
(S136N +8 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 2B2
GUncertain significance
TNNT3
(K177del +8 more)
Microsatellite
(inframe_deletion)
TNNT3-related disorder
+2 more
GUncertain significance
TNNT3
Single nucleotide variant
(intron variant)
Arthrogryposis, distal, type 2B2
+2 more
GBenign
TNNT3
(R63C +7 more)
Single nucleotide variant
(missense variant +1 more)
Arthyrgryposis, distal, type 2B
+2 more
GPathogenic/Likely pathogenic
TNNT3
Single nucleotide variant
(intron variant)
Arthrogryposis, distal, type 2B2
+1 more
GBenign
TNNT3
Single nucleotide variant
(intron variant)
Arthrogryposis, distal, type 2B2
+1 more
GBenign
TNNT3
(R63H +7 more)
Single nucleotide variant
(missense variant +1 more)
Arthyrgryposis, distal, type 2B
+2 more
GPathogenic/Likely pathogenic
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