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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMEM260
(P86fs)
Deletion
(frameshift variant)
Structural heart defects and renal anomalies syndrome
GLikely pathogenic
TMEM260
(L100S)
Single nucleotide variant
(missense variant)
Structural heart defects and renal anomalies syndrome
GUncertain significance
TMEM260
(R134C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TMEM260
(G217R)
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
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