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Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATG10, ATP6AP1L
+691 more
Copy number gain
See cases
GPathogenic
HMGCR
Single nucleotide variant
(synonymous variant)
HMGCR-related disorder
GLikely benign
HMGCR
(L97H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HMGCR
Single nucleotide variant
(intron variant)
Muscular dystrophy, limb-girdle, autosomal recessive 28
GPathogenic
HMGCR
(R136K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HMGCR
Single nucleotide variant
(intron variant)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
HMGCR
Single nucleotide variant
(intron variant)
Statins, attenuated cholesterol lowering by
Gassociation
HMGCR
(D171N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HMGCR
Single nucleotide variant
(synonymous variant)
HMGCR-related disorder
GLikely benign
HMGCR
Single nucleotide variant
(synonymous variant)
HMGCR-related disorder
GLikely benign
HMGCR
(P277L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HMGCR
(K288E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HMGCR
(Y311S)
Single nucleotide variant
(missense variant)
HMGCR-related disorder
GBenign
HMGCR
(I316N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HMGCR
(E343D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HMGCR
(C368R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HMGCR
(I436V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HMGCR
(R443W)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal recessive 28
GPathogenic
HMGCR
(R443Q)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal recessive 28
GPathogenic
HMGCR
Single nucleotide variant
(intron variant)
Low density lipoprotein cholesterol level quantitative trait locus 3
Gassociation
HMGCR
(S508del)
Microsatellite
(inframe_deletion)
Muscular dystrophy, limb-girdle, autosomal recessive 28
GPathogenic
HMGCR
(S520F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HMGCR
(I531V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
HMGCR
(D547E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
HMGCR
(R598H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HMGCR
(C547Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HMGCR
(D623N +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal recessive 28
GPathogenic
CERT1, HMGCR
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CERT1, HMGCR
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HMGCR
Single nucleotide variant
(synonymous variant)
HMGCR-related disorder
GLikely benign
HMGCR
(A759T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HMGCR
(Y792C +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy, limb-girdle, autosomal recessive 28
GPathogenic
HMGCR
Single nucleotide variant
(intron variant)
Statins, attenuated cholesterol lowering by
Gdrug response
HMGCR
Single nucleotide variant
(intron variant)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
HMGCR
(G769D +1 more)
Single nucleotide variant
(missense variant)
Limb-girdle muscular dystrophy
GPathogenic
HMGCR
(K864N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HMGCR
Single nucleotide variant
(3 prime UTR variant)
HMGCR-related disorder
GBenign
HMGCR
Single nucleotide variant
(3 prime UTR variant)
Statins, attenuated cholesterol lowering by
Gdrug response
ANKDD1B, ANKRD31
+9 more
Duplication
not provided
GUncertain significance
ACOT12, ADGRV1
+98 more
Copy number gain
not provided
GPathogenic
CERT1, HMGCR
Copy number gain
not provided
GUncertain significance
C5orf24, C5orf34
+600 more
Deletion
Neurodevelopmental disorder
GUncertain significance
DHFR, DHX29
+738 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
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