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Links from MedGen

Items: 1 to 100 of 5587

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALMS1
(S1285fs +1 more)
Deletion
(frameshift variant)
Alstrom syndrome
GPathogenic
ALMS1
(I1123fs +1 more)
Duplication
(frameshift variant)
Alstrom syndrome
GLikely pathogenic
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(intron variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(intron variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(intron variant)
Alstrom syndrome
GLikely benign
ALMS1
(C3498Y +1 more)
Single nucleotide variant
(missense variant)
Alstrom syndrome
GUncertain significance
ALMS1
Single nucleotide variant
(intron variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
(Q3713* +1 more)
Single nucleotide variant
(nonsense)
Alstrom syndrome
GPathogenic
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(splice donor variant)
Alstrom syndrome
GLikely pathogenic
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(splice donor variant)
Alstrom syndrome
GLikely pathogenic
ALMS1, LOC126806252
(Q4074* +1 more)
Single nucleotide variant
(nonsense)
Alstrom syndrome
GPathogenic
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
(P85L +1 more)
Single nucleotide variant
(missense variant)
Alstrom syndrome
GUncertain significance
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
(D182fs +1 more)
Duplication
(frameshift variant)
Alstrom syndrome
GPathogenic
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1, LOC126806252
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
+1 more
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(intron variant)
Alstrom syndrome
GLikely benign
ALMS1
(Q3667* +1 more)
Single nucleotide variant
(nonsense)
Alstrom syndrome
GPathogenic
ALMS1
Single nucleotide variant
(intron variant)
Alstrom syndrome
GLikely benign
ALMS1
(H2822L +1 more)
Single nucleotide variant
(missense variant)
Alstrom syndrome
GUncertain significance
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
(N3453fs +1 more)
Duplication
(frameshift variant)
Alstrom syndrome
GPathogenic
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
(T2712I +1 more)
Single nucleotide variant
(missense variant)
Alstrom syndrome
GUncertain significance
ALMS1
Single nucleotide variant
(intron variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
(E262* +1 more)
Single nucleotide variant
(nonsense)
Alstrom syndrome
GPathogenic
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Deletion
(intron variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Deletion
(intron variant)
Alstrom syndrome
GBenign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(intron variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1, LOC126806252
(Q4007fs +1 more)
Deletion
(frameshift variant)
Alstrom syndrome
GPathogenic
ALMS1
(I1518L +1 more)
Single nucleotide variant
(missense variant)
Alstrom syndrome
GUncertain significance
ALMS1
Single nucleotide variant
(intron variant)
Alstrom syndrome
GLikely benign
ALMS1
(I915fs +1 more)
Duplication
(frameshift variant)
Alstrom syndrome
GPathogenic
ALMS1
Single nucleotide variant
(intron variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
+1 more
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
(G1588V +1 more)
Single nucleotide variant
(missense variant)
Alstrom syndrome
GUncertain significance
ALMS1
Single nucleotide variant
(intron variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(intron variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
(V1858fs +1 more)
Duplication
(frameshift variant)
Alstrom syndrome
GPathogenic
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(intron variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(intron variant)
Alstrom syndrome
GLikely benign
ALMS1
(E2580K +1 more)
Single nucleotide variant
(missense variant)
Alstrom syndrome
GUncertain significance
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
(K1930fs +1 more)
Deletion
(frameshift variant)
Alstrom syndrome
GPathogenic
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
(I1972fs +1 more)
Deletion
(frameshift variant)
Alstrom syndrome
GPathogenic
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
ALMS1
(H1115fs +1 more)
Microsatellite
(frameshift variant)
Alstrom syndrome
GPathogenic
ALMS1
Single nucleotide variant
(intron variant)
Alstrom syndrome
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
GLikely benign
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