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Links from MedGen

Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMEM260
(L701V)
Single nucleotide variant
(missense variant)
Structural heart defects and renal anomalies syndrome
GUncertain significance
TMEM260
(P86fs)
Deletion
(frameshift variant)
Structural heart defects and renal anomalies syndrome
GLikely pathogenic
TMEM260
(P202S)
Single nucleotide variant
(missense variant)
Structural heart defects and renal anomalies syndrome
GUncertain significance
TMEM260
(K177E)
Single nucleotide variant
(missense variant)
Structural heart defects and renal anomalies syndrome
GUncertain significance
TMEM260
(Y470*)
Single nucleotide variant
(nonsense)
Structural heart defects and renal anomalies syndrome
GPathogenic
TMEM260
(Q288fs)
Deletion
(frameshift variant)
Structural heart defects and renal anomalies syndrome
GPathogenic
TMEM260
(F599*)
Duplication
(nonsense)
Structural heart defects and renal anomalies syndrome
GPathogenic
TMEM260
Single nucleotide variant
(intron variant)
Structural heart defects and renal anomalies syndrome
GBenign
TMEM260
(S565N)
Single nucleotide variant
(missense variant)
Structural heart defects and renal anomalies syndrome
GBenign
TMEM260
Single nucleotide variant
(intron variant)
Structural heart defects and renal anomalies syndrome
GBenign
TMEM260
Single nucleotide variant
(intron variant)
Structural heart defects and renal anomalies syndrome
GBenign
TMEM260
(S565fs)
Indel
(frameshift variant)
Structural heart defects and renal anomalies syndrome
GLikely pathogenic
TMEM260
Deletion
(splice acceptor variant +1 more)
Structural heart defects and renal anomalies syndrome
GPathogenic
TMEM260
(R115K)
Single nucleotide variant
(missense variant)
Structural heart defects and renal anomalies syndrome
GPathogenic
TMEM260
(P549fs)
Deletion
(frameshift variant)
Type I truncus arteriosus
GPathogenic
TMEM260
Single nucleotide variant
(splice donor variant)
Structural heart defects and renal anomalies syndrome
GLikely pathogenic
TMEM260
Single nucleotide variant
(splice donor variant)
Structural heart defects and renal anomalies syndrome
GLikely pathogenic
TMEM260
(E582Q)
Single nucleotide variant
(missense variant)
Structural heart defects and renal anomalies syndrome
GLikely pathogenic
TMEM260
Single nucleotide variant
(splice acceptor variant)
Structural heart defects and renal anomalies syndrome
GPathogenic
TMEM260
(R134C)
Single nucleotide variant
(missense variant)
Structural heart defects and renal anomalies syndrome
+2 more
GUncertain significance
TMEM260
(L100S)
Single nucleotide variant
(missense variant)
Structural heart defects and renal anomalies syndrome
GUncertain significance
TMEM260
(M594T)
Single nucleotide variant
(missense variant)
Structural heart defects and renal anomalies syndrome
GUncertain significance
TMEM260
(G217R)
Single nucleotide variant
(missense variant)
Structural heart defects and renal anomalies syndrome
GUncertain significance
TMEM260
(T563fs)
Deletion
(frameshift variant)
Structural heart defects and renal anomalies syndrome
GLikely pathogenic
TMEM260
(E471K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
TMEM260
(K696fs)
Microsatellite
(frameshift variant)
Structural heart defects and renal anomalies syndrome
GLikely pathogenic
TMEM260
(A126V)
Single nucleotide variant
(missense variant)
Structural heart defects and renal anomalies syndrome
GUncertain significance
TMEM260
(Y567fs)
Deletion
(frameshift variant)
Structural heart defects and renal anomalies syndrome
GPathogenic
TMEM260
(Q465*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
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