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Items: 54

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALMS1
Microsatellite
(inframe_insertion)
Alstrom syndrome
GBenign
ALMS1
Microsatellite
(inframe_insertion)
not provided
+3 more
GConflicting classifications of pathogenicity
ALMS1
Microsatellite
(inframe_insertion)
not specified
+3 more
GConflicting classifications of pathogenicity
ALMS1
Microsatellite
(inframe_deletion)
Alstrom syndrome
+3 more
GBenign/Likely benign
ALMS1
Microsatellite
(inframe_deletion)
Cardiovascular phenotype
+2 more
GBenign/Likely benign
ALMS1
Microsatellite
(inframe_deletion)
not provided
+3 more
GBenign
ALMS1
(E28del +1 more)
Microsatellite
(inframe_deletion)
not specified
+3 more
GBenign/Likely benign
ALMS1
Insertion
(inframe_insertion)
Alstrom syndrome
GLikely benign
ALMS1
(P225H +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
ALMS1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
+3 more
GBenign/Likely benign
ALMS1
(T383A +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
+3 more
GBenign/Likely benign
ALMS1
(V424I +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
ALMS1
(I486V +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
ALMS1
Microsatellite
(inframe_insertion)
Cardiovascular phenotype
+2 more
GBenign
ALMS1
(H625R +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign
ALMS1
(V673G +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
+3 more
GBenign/Likely benign
ALMS1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
ALMS1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
ALMS1
(S1066P +1 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+4 more
GBenign/Likely benign
ALMS1
(D1066fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
ALMS1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GLikely benign
ALMS1
(T1386R +1 more)
Single nucleotide variant
(missense variant)
Alstrom syndrome
+4 more
GBenign
ALMS1
(A1411P +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
ALMS1
(L1444F +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
ALMS1
(E1731G +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ALMS1
(N1788D +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
ALMS1
(K1812N +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
ALMS1
(R1819* +1 more)
Single nucleotide variant
(nonsense)
Alstrom syndrome
+2 more
GPathogenic/Likely pathogenic
ALMS1
(I2004V +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
ALMS1
(S2102L +1 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+4 more
GBenign
ALMS1
(Q2154R +1 more)
Single nucleotide variant
(missense variant)
Alstrom syndrome
+1 more
GUncertain significance
ALMS1
(D2156G +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
ALMS1
(P2186S +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
ALMS1
(N2424S +1 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+4 more
GBenign/Likely benign
ALMS1
(A2608G +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ALMS1
(N2946K +1 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+4 more
GBenign
ALMS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
ALMS1
Duplication
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ALMS1
(P3421fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic/Likely pathogenic
ALMS1
(K3425N +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
ALMS1
(K3436E +1 more)
Single nucleotide variant
(missense variant)
Alstrom syndrome
+4 more
GConflicting classifications of pathogenicity
ALMS1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
ALMS1
(S3686N +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign
ALMS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GLikely benign
ALMS1
(G3757S +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
+1 more
GLikely benign
ALMS1
(H3882Y +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
ALMS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
ALMS1
(G3942S +1 more)
Single nucleotide variant
(missense variant)
Alstrom syndrome
+4 more
GBenign
ALMS1, LOC126806252
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
ALMS1, LOC126806252
(R4031K +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GBenign
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