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Links from Gene

Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMEM260
(L272fs)
Deletion
(frameshift variant)
Structural heart defects and renal anomalies syndrome
GLikely pathogenic
LOC130055718, TMEM260
Duplication
(inframe_insertion)
Structural heart defects and renal anomalies syndrome
GLikely pathogenic
TMEM260
Duplication
(splice donor variant)
Structural heart defects and renal anomalies syndrome
GPathogenic
LOC130055718, TMEM260
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
LOC130055718, TMEM260
(L20P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
LOC130055718, TMEM260
(G25fs)
Deletion
(frameshift variant)
Structural heart defects and renal anomalies syndrome
GLikely pathogenic
TMEM260
Copy number loss
not specified
GUncertain significance
LOC130055718, TMEM260
(P46T)
Single nucleotide variant
(missense variant)
TMEM260-related disorder
GBenign
TMEM260
(P86fs)
Deletion
(frameshift variant)
Structural heart defects and renal anomalies syndrome
GLikely pathogenic
LOC130055718, TMEM260
(V36A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130055718, TMEM260
(V39A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130055718, TMEM260
(A31P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130055718, TMEM260
(S53F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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
LOC130055718, TMEM260
(A35T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130055718, TMEM260
(P45S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
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
Copy number gain
not provided
GUncertain significance
TMEM260
Copy number gain
not provided
GUncertain significance
LOC130055718, TMEM260
(Q12fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
TMEM260
(Y241fs)
Duplication
(frameshift variant)
not provided
GPathogenic
TMEM260
Copy number loss
not provided
GUncertain significance
TMEM260
(T563fs)
Deletion
(frameshift variant)
Structural heart defects and renal anomalies syndrome
GLikely pathogenic
LOC130055718, TMEM260
(V39E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC130055718, TMEM260
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130055718, TMEM260
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC130055718, TMEM260
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
TMEM260
Copy number loss
not provided
GUncertain significance
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