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Links from MedGen

Items: 1 to 100 of 574

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACD
(G183E +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
(P253R +1 more)
Single nucleotide variant
(missense variant +1 more)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
(L190Q +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD, LOC130059224
(L29Q)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
(H44R +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
(H324R +2 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
(L62F)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
(A72P)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
(E106V +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
Single nucleotide variant
(5 prime UTR variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
(L358F +2 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita, autosomal dominant 6
+1 more
GLikely benign
ACD
(A10G)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
(P239S +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
(T289S +2 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
LOC130059224, ACD
(A22P)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD, LOC130059224
(V45I)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
+1 more
GUncertain significance
ACD, LOC130059224
(A40T)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD, LOC130059224
Duplication
(frameshift variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD, LOC130059224
Duplication
(frameshift variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
(P267del +1 more)
Microsatellite
(inframe_deletion +1 more)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD, LOC130059224
(R34G)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
(P321L +2 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
(G382D +2 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
(P203A +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
+1 more
GUncertain significance
ACD
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD, LOC130059224
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
(P339fs +2 more)
Deletion
(frameshift variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
(L163fs +1 more)
Deletion
(frameshift variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD, LOC130059224
(R34P)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
Single nucleotide variant
(5 prime UTR variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
(T333I +2 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
(A295D +2 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
(V103F +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
(V186M +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
(S224R +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
+1 more
GLikely benign
ACD
(L248V +1 more)
Single nucleotide variant
(intron variant +1 more)
ACD-related condition
+1 more
GUncertain significance
ACD
Single nucleotide variant
(5 prime UTR variant)
Dyskeratosis congenita, autosomal dominant 6
+1 more
GUncertain significance
ACD
(P334S +2 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
+1 more
GUncertain significance
ACD, LOC130059224
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita, autosomal dominant 6
+1 more
GLikely benign
ACD
Single nucleotide variant
(synonymous variant +1 more)
Dyskeratosis congenita, autosomal dominant 6
+1 more
GLikely benign
ACD
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita, autosomal dominant 6
+1 more
GLikely benign
ACD
(A206V +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
+1 more
GUncertain significance
ACD, LOC130059224
(R34L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ACD, LOC130059224
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
AARS1, ACD
+127 more
Deletion
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
(S340N +2 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
(S344fs +1 more)
Deletion
(frameshift variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD, LOC130059224
(S18F)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
Single nucleotide variant
(5 prime UTR variant)
Dyskeratosis congenita, autosomal dominant 6
+1 more
GUncertain significance
ACD
(S371C +2 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
+1 more
GUncertain significance
ACD, LOC130059224
(R37S)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
(T75N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ACD, LOC130059224
(W24*)
Single nucleotide variant
(nonsense)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
(A43G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ACD
(G248D +1 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
Single nucleotide variant
(synonymous variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
(M455K +2 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
(P454T +2 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD, LOC130059224
(V45L)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
Deletion
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
(P376L +2 more)
Single nucleotide variant
(missense variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GLikely benign
ACD
Single nucleotide variant
(splice donor variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
ACD
(T218I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ACD
Single nucleotide variant
(intron variant)
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
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