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Items: 60

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALMS1
Microsatellite
(inframe_insertion)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
ALMS1
Microsatellite
(inframe_insertion)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
ALMS1
Microsatellite
(inframe_deletion)
not provided
+3 more
GBenign/Likely benign
ALMS1
(E28del +1 more)
Microsatellite
(inframe_deletion)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
ALMS1
Deletion
(no sequence alteration)
Cardiovascular phenotype
+2 more
GBenign/Likely benign
ALMS1
(P95S +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
+2 more
GConflicting classifications of pathogenicity
ALMS1
(S275R +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
ALMS1
(I486V +1 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+4 more
GConflicting classifications of pathogenicity
ALMS1
(L538V +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
ALMS1
(G614D +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
ALMS1
(Y680C +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
ALMS1
(R681G +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
ALMS1
(A840T +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
ALMS1
(T1032S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ALMS1
(K1103T +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ALMS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
ALMS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
ALMS1
(F1192fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ALMS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GLikely benign
ALMS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
ALMS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
ALMS1
(S1478L +1 more)
Single nucleotide variant
(missense variant)
Alstrom syndrome
+2 more
GUncertain significance
ALMS1
(L1616V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALMS1
(T1664I +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
ALMS1
(E1687Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALMS1
(E1731G +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
ALMS1
(P1822L +1 more)
Single nucleotide variant
(missense variant)
Alstrom syndrome
+3 more
GConflicting classifications of pathogenicity
ALMS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
ALMS1
(T1887S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALMS1
(Q2068E +1 more)
Single nucleotide variant
(missense variant)
Alstrom syndrome
+2 more
GUncertain significance
ALMS1
(I2072V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALMS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
ALMS1
(R2277Q +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
ALMS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
ALMS1
(T2339I +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
ALMS1
(R2553fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
ALMS1
(R2670* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
ALMS1
(I2788V +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
ALMS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
ALMS1
(T2819I +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
ALMS1
(D2913E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALMS1
(N3018S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALMS1
(H3089R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ALMS1
(S3198T +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
ALMS1
(T3297A +1 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+4 more
GConflicting classifications of pathogenicity
ALMS1
(I3382S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALMS1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
ALMS1
(T3544S +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
ALMS1
(Q3585L +1 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+4 more
GBenign/Likely benign
ALMS1
(T3592fs +1 more)
Deletion
(frameshift variant)
Retinal dystrophy
+3 more
GPathogenic
ALMS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GLikely benign
ALMS1
(L3674I +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
ALMS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
ALMS1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
ALMS1
Single nucleotide variant
(synonymous variant)
Alstrom syndrome
+3 more
GBenign/Likely benign
ALMS1
(G3942S +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GBenign
ALMS1, LOC126806252
(D4013E +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ALMS1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
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