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Items: 1 to 100 of 134

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC125048431, LOC125048432
+3280 more
Copy number gain
See cases
GPathogenic
FSCB, FUT8
+3275 more
Copy number gain
See cases
GPathogenic
ABHD12B, ARF6
+394 more
Copy number gain
See cases
GLikely pathogenic
LINC02284, LOC101927690
+13 more
Copy number gain
See cases
GLikely benign
LOC130055718, TMEM260
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130055718, TMEM260
(Q12fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
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
LOC130055718, TMEM260
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130055718, TMEM260
(A31P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130055718, TMEM260
(A35T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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
(V39E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LOC130055718, TMEM260
(P45S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130055718, TMEM260
(P46T)
Single nucleotide variant
(missense variant)
TMEM260-related disorder
GBenign
LOC130055718, TMEM260
(S53F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM260, LOC130055718
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TMEM260
Deletion
(splice acceptor variant +1 more)
Structural heart defects and renal anomalies syndrome
GPathogenic
TMEM260
Single nucleotide variant
(splice acceptor variant)
Structural heart defects and renal anomalies syndrome
GPathogenic
TMEM260
(P69A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM260
(K79N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM260
(A81T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM260
(P86fs)
Deletion
(frameshift variant)
Structural heart defects and renal anomalies syndrome
GLikely pathogenic
TMEM260
Single nucleotide variant
(synonymous variant)
TMEM260-related disorder
+1 more
GBenign
TMEM260
(I90V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
TMEM260
(N95S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM260
(L100S)
Single nucleotide variant
(missense variant)
Structural heart defects and renal anomalies syndrome
GUncertain significance
TMEM260
(R115K)
Single nucleotide variant
(missense variant)
Structural heart defects and renal anomalies syndrome
GPathogenic
TMEM260
Single nucleotide variant
(intron variant)
Structural heart defects and renal anomalies syndrome
GBenign
TMEM260
(A126V)
Single nucleotide variant
(missense variant)
Structural heart defects and renal anomalies syndrome
GUncertain significance
TMEM260
(R134C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
TMEM260
(R134H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM260
Single nucleotide variant
(synonymous variant)
TMEM260-related disorder
+1 more
GLikely benign
TMEM260
(A158V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM260
(K177E)
Single nucleotide variant
(missense variant)
Structural heart defects and renal anomalies syndrome
GUncertain significance
TMEM260
(F181C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM260
(C182Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM260
(I193V)
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
(P202R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM260
(G217R)
Single nucleotide variant
(missense variant)
Structural heart defects and renal anomalies syndrome
GUncertain significance
TMEM260
(S223I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TMEM260
(F226V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM260
(G229S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM260
(P232S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM260
(P237T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM260
(Y241fs)
Duplication
(frameshift variant)
not provided
GPathogenic
TMEM260
(H244Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM260
(A245S)
Single nucleotide variant
(missense variant)
TMEM260-related disorder
GBenign
TMEM260
(A245T)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
TMEM260
(R246Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM260
(D251V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM260
(Q256fs)
Duplication
(frameshift variant)
not provided
GPathogenic
TMEM260
Single nucleotide variant
(synonymous variant)
TMEM260-related disorder
+1 more
GBenign
TMEM260
Single nucleotide variant
(intron variant)
Structural heart defects and renal anomalies syndrome
GUncertain significance
TMEM260
Single nucleotide variant
(intron variant)
Structural heart defects and renal anomalies syndrome
GBenign
TMEM260
(Q288fs)
Deletion
(frameshift variant)
Structural heart defects and renal anomalies syndrome
GPathogenic
TMEM260
Single nucleotide variant
(synonymous variant)
TMEM260-related disorder
GUncertain significance
TMEM260
(R293K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
TMEM260
(P319A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM260
(S333L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TMEM260
(W357*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
TMEM260
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TMEM260
(T379N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM260
(L398R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM260
(L398P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM260
(S409G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM260
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TMEM260
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
TMEM260
(C411S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM260
(F422L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM260
(Q465*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
TMEM260
(Y470*)
Single nucleotide variant
(nonsense)
Structural heart defects and renal anomalies syndrome
GPathogenic
TMEM260
(E471K)
Single nucleotide variant
(missense variant)
TMEM260-related disorder
+2 more
GBenign/Likely benign
TMEM260
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TMEM260
(N489T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM260
(R490W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM260
(W491*)
Single nucleotide variant
(nonsense)
Structural heart defects and renal anomalies syndrome
GLikely pathogenic
TMEM260
(I497V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM260
(Y508fs)
Duplication
(frameshift variant)
Structural heart defects and renal anomalies syndrome
GPathogenic
TMEM260
(D529G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM260
(P549fs)
Deletion
(frameshift variant)
Type I truncus arteriosus
GPathogenic
TMEM260
(I552T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TMEM260
(E557D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM260
(T563fs)
Deletion
(frameshift variant)
Structural heart defects and renal anomalies syndrome
GLikely pathogenic
TMEM260
(S565N)
Single nucleotide variant
(missense variant)
Structural heart defects and renal anomalies syndrome
GBenign
TMEM260
(S565fs)
Indel
(frameshift variant)
Structural heart defects and renal anomalies syndrome
GLikely pathogenic
TMEM260
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TMEM260
(Y567fs)
Deletion
(frameshift variant)
Structural heart defects and renal anomalies syndrome
GPathogenic
TMEM260
(R575M)
Single nucleotide variant
(missense variant)
TMEM260-related disorder
GUncertain significance
TMEM260
(E582Q)
Single nucleotide variant
(missense variant)
Structural heart defects and renal anomalies syndrome
GLikely pathogenic
TMEM260
Single nucleotide variant
(synonymous variant)
TMEM260-related disorder
GLikely benign
TMEM260
Single nucleotide variant
(intron variant)
Structural heart defects and renal anomalies syndrome
GBenign
TMEM260
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TMEM260
(M594T)
Single nucleotide variant
(missense variant)
Structural heart defects and renal anomalies syndrome
GUncertain significance
TMEM260
(F599*)
Duplication
(nonsense)
Structural heart defects and renal anomalies syndrome
GPathogenic
TMEM260
(P597L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM260
(T606S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TMEM260
(K614E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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