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Items: 1 to 100 of 1314

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130008916, LOC130008917
+4836 more
Copy number gain
See cases
GPathogenic
TRD-GTC2-10, TRD-GTC2-9
+906 more
Copy number gain
See cases
GPathogenic
AACS, ABCB9
+892 more
Copy number gain
See cases
GPathogenic
MED13L
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
MED13L
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
MED13L
(I2209T)
Single nucleotide variant
(missense variant)
Cardiac anomalies - developmental delay - facial dysmorphism syndrome
GUncertain significance
MED13L
(I2206V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
MED13L
(V2198L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MED13L
(H2195Y)
Single nucleotide variant
(missense variant)
See cases
GLikely pathogenic
MED13L
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
MED13L
(V2194I)
Single nucleotide variant
(missense variant)
Transposition of the great arteries, dextro-looped
GBenign
MED13L
Single nucleotide variant
(synonymous variant)
Transposition of the great arteries, dextro-looped
GBenign
MED13L
(P2193T)
Single nucleotide variant
(missense variant)
Cardiac anomalies - developmental delay - facial dysmorphism syndrome
GUncertain significance
MED13L
(C2191fs)
Duplication
(frameshift variant)
Transposition of the great arteries, dextro-looped
GUncertain significance
MED13L
(S2190C)
Single nucleotide variant
(missense variant)
Transposition of the great arteries, dextro-looped
GUncertain significance
MED13L
(R2188C)
Single nucleotide variant
(missense variant)
Transposition of the great arteries, dextro-looped
GUncertain significance
MED13L
(Q2186*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
MED13L
(T2185N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MED13L
Single nucleotide variant
(synonymous variant)
Transposition of the great arteries, dextro-looped
GLikely benign
MED13L
(P2183L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MED13L
(N2182S)
Single nucleotide variant
(missense variant)
Transposition of the great arteries, dextro-looped
GBenign
MED13L
Single nucleotide variant
(synonymous variant)
Transposition of the great arteries, dextro-looped
GLikely benign
MED13L
(T2180M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MED13L
Single nucleotide variant
(synonymous variant)
Transposition of the great arteries, dextro-looped
GLikely benign
MED13L
(L2170W)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
MED13L
Deletion
(splice acceptor variant)
Cardiac anomalies - developmental delay - facial dysmorphism syndrome
GLikely pathogenic
MED13L
Single nucleotide variant
(intron variant)
Transposition of the great arteries, dextro-looped
GLikely benign
MED13L
Single nucleotide variant
(intron variant)
Transposition of the great arteries, dextro-looped
GLikely benign
MED13L
Single nucleotide variant
(intron variant)
Transposition of the great arteries, dextro-looped
GLikely benign
MED13L
(S2163L)
Single nucleotide variant
(missense variant)
Cardiac anomalies - developmental delay - facial dysmorphism syndrome
+2 more
GPathogenic/Likely pathogenic
MED13L
Single nucleotide variant
(synonymous variant)
Transposition of the great arteries, dextro-looped
GLikely benign
MED13L
(T2162M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
MED13L
(H2155fs)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
MED13L
(R2152W)
Single nucleotide variant
(missense variant)
Transposition of the great arteries, dextro-looped
GUncertain significance
MED13L
Single nucleotide variant
(synonymous variant)
Transposition of the great arteries, dextro-looped
GBenign
MED13L
Single nucleotide variant
(synonymous variant)
Transposition of the great arteries, dextro-looped
GLikely benign
MED13L
(E2143fs)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
MED13L
(Q2140*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
MED13L
Indel
(inframe_indel)
Cardiac anomalies - developmental delay - facial dysmorphism syndrome
GUncertain significance
MED13L
(S2131L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MED13L
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
MED13L
Single nucleotide variant
(intron variant)
Transposition of the great arteries, dextro-looped
GLikely benign
MED13L
Duplication
(intron variant)
Transposition of the great arteries, dextro-looped
GBenign
MED13L
Single nucleotide variant
(intron variant)
Transposition of the great arteries, dextro-looped
GLikely benign
MED13L
Microsatellite
(intron variant)
Transposition of the great arteries, dextro-looped
GLikely benign
MED13L
Single nucleotide variant
(intron variant)
Transposition of the great arteries, dextro-looped
GLikely benign
MED13L
Insertion
(intron variant)
Transposition of the great arteries, dextro-looped
GLikely benign
MED13L
Deletion
(intron variant)
Transposition of the great arteries, dextro-looped
GLikely benign
MED13L
Single nucleotide variant
(intron variant)
Transposition of the great arteries, dextro-looped
GBenign
MED13L
(Q2123R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MED13L
(Q2123*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
MED13L
(Q2119R)
Single nucleotide variant
(missense variant)
Cardiac anomalies - developmental delay - facial dysmorphism syndrome
GUncertain significance
MED13L
Single nucleotide variant
(synonymous variant)
Transposition of the great arteries, dextro-looped
+1 more
GBenign
MED13L
Single nucleotide variant
(synonymous variant)
Transposition of the great arteries, dextro-looped
+1 more
GLikely benign
MED13L
(S2116L)
Single nucleotide variant
(missense variant)
Transposition of the great arteries, dextro-looped
+1 more
GUncertain significance
MED13L
(W2112*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
GPathogenic
MED13L
(W2112*)
Single nucleotide variant
(nonsense)
Cardiac anomalies - developmental delay - facial dysmorphism syndrome
GPathogenic
MED13L
(Q2111fs)
Deletion
(frameshift variant)
Cardiac anomalies - developmental delay - facial dysmorphism syndrome
GPathogenic
MED13L
(Q2111*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
GPathogenic
MED13L
(P2110L)
Single nucleotide variant
(missense variant)
Transposition of the great arteries, dextro-looped
GUncertain significance
MED13L
Single nucleotide variant
(synonymous variant)
Transposition of the great arteries, dextro-looped
GLikely benign
MED13L
(A2104V)
Single nucleotide variant
(missense variant)
Transposition of the great arteries, dextro-looped
GBenign
MED13L
(A2104S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MED13L
Single nucleotide variant
(synonymous variant)
Transposition of the great arteries, dextro-looped
GLikely benign
MED13L
(V2101I)
Single nucleotide variant
(missense variant)
Transposition of the great arteries, dextro-looped
GUncertain significance
MED13L
(A2096fs)
Duplication
(frameshift variant)
not provided
GPathogenic
MED13L
(P2094S)
Single nucleotide variant
(missense variant)
Transposition of the great arteries, dextro-looped
+1 more
GPathogenic/Likely pathogenic
MED13L
(P2094T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GPathogenic
MED13L
Single nucleotide variant
(synonymous variant)
Transposition of the great arteries, dextro-looped
GLikely benign
MED13L
(Q2092E)
Single nucleotide variant
(missense variant)
Cardiac anomalies - developmental delay - facial dysmorphism syndrome
GUncertain significance
MED13L
(P2087fs)
Deletion
(frameshift variant)
Cardiac anomalies - developmental delay - facial dysmorphism syndrome
GPathogenic
MED13L
(L2082H)
Single nucleotide variant
(missense variant)
Transposition of the great arteries, dextro-looped
GUncertain significance
MED13L
(L2081fs)
Duplication
(frameshift variant)
Transposition of the great arteries, dextro-looped
GPathogenic
MED13L
(E2079fs)
Deletion
(frameshift variant)
Cardiac anomalies - developmental delay - facial dysmorphism syndrome
GPathogenic
MED13L
(S2076R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MED13L
Single nucleotide variant
(splice acceptor variant)
Cardiac anomalies - developmental delay - facial dysmorphism syndrome
GPathogenic
MED13L
Single nucleotide variant
(intron variant)
Transposition of the great arteries, dextro-looped
+1 more
GBenign
MED13L
(G2066fs)
Duplication
(frameshift variant)
Cardiac anomalies - developmental delay - facial dysmorphism syndrome
GPathogenic
MED13L
Single nucleotide variant
(synonymous variant)
Transposition of the great arteries, dextro-looped
GLikely benign
MED13L
(P2062S)
Single nucleotide variant
(missense variant)
Cardiac anomalies - developmental delay - facial dysmorphism syndrome
GUncertain significance
MED13L
(P2055fs)
Deletion
(frameshift variant)
not provided
GPathogenic
MED13L
Single nucleotide variant
(synonymous variant)
Transposition of the great arteries, dextro-looped
GBenign
MED13L
(N2052T)
Single nucleotide variant
(missense variant)
Cardiac anomalies - developmental delay - facial dysmorphism syndrome
GUncertain significance
MED13L
(P2051S)
Single nucleotide variant
(missense variant)
Cardiac anomalies - developmental delay - facial dysmorphism syndrome
GUncertain significance
MED13L
(L2047V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MED13L
Single nucleotide variant
(synonymous variant)
Transposition of the great arteries, dextro-looped
GLikely benign
MED13L
(G2040fs)
Deletion
(frameshift variant)
Intellectual disability
GPathogenic
MED13L
Single nucleotide variant
(synonymous variant)
Transposition of the great arteries, dextro-looped
GBenign
MED13L
(V2027F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MED13L
(M2025fs)
Duplication
(frameshift variant)
not provided
GPathogenic
MED13L
(D2023G)
Single nucleotide variant
(missense variant)
Transposition of the great arteries, dextro-looped
GUncertain significance
MED13L
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
MED13L
Single nucleotide variant
(intron variant)
Transposition of the great arteries, dextro-looped
GLikely benign
MED13L
Deletion
(intron variant)
Transposition of the great arteries, dextro-looped
GBenign
MED13L
Single nucleotide variant
(intron variant)
Transposition of the great arteries, dextro-looped
GLikely benign
MED13L
Single nucleotide variant
(intron variant)
not provided
GBenign
MED13L
Single nucleotide variant
(intron variant)
Transposition of the great arteries, dextro-looped
GLikely benign
MED13L
Single nucleotide variant
(intron variant)
Transposition of the great arteries, dextro-looped
GLikely benign
MED13L
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MED13L
Single nucleotide variant
(synonymous variant)
Transposition of the great arteries, dextro-looped
GLikely benign
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