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Links from MedGen

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CAV1
Single nucleotide variant
(stop lost)
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
GUncertain significance
CAV1
(R115fs +1 more)
Deletion
(frameshift variant)
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
GLikely pathogenic
CAV1
(K55R +1 more)
Single nucleotide variant
(missense variant)
Pulmonary hypertension, primary, 3
+1 more
GUncertain significance
CAV1
(I109N +1 more)
Single nucleotide variant
(missense variant)
Pulmonary hypertension, primary, 3
+1 more
GUncertain significance
CAV1
(H48R +1 more)
Single nucleotide variant
(missense variant)
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
GUncertain significance
CAV1
(S123fs +1 more)
Microsatellite
(frameshift variant)
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
GPathogenic
CAV1
(P101A +1 more)
Single nucleotide variant
(missense variant)
Congenital generalized lipodystrophy type 3
+3 more
GUncertain significance
CAV1
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+3 more
GLikely benign
CAV1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+3 more
GBenign
CAV1
(R115P +1 more)
Single nucleotide variant
(missense variant)
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
+2 more
GLikely benign
CAV1
(R70H +1 more)
Single nucleotide variant
(missense variant)
Pulmonary hypertension, primary, 3
+2 more
GUncertain significance
CAV1
(F68V +1 more)
Single nucleotide variant
(missense variant)
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
+3 more
GUncertain significance
CAV1
Single nucleotide variant
(synonymous variant)
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
+3 more
GLikely benign
CAV1
Single nucleotide variant
(synonymous variant)
Pulmonary hypertension, primary, 3
+3 more
GBenign/Likely benign
CAV1
Single nucleotide variant
(5 prime UTR variant +1 more)
Congenital generalized lipodystrophy type 3
+3 more
GBenign
CAV1
(R140H +1 more)
Single nucleotide variant
(missense variant)
Pulmonary hypertension, primary, 3
+2 more
GUncertain significance
CAV1
Single nucleotide variant
(synonymous variant)
Congenital generalized lipodystrophy type 3
+4 more
GBenign/Likely benign
CAV1
(Q142* +1 more)
Single nucleotide variant
(nonsense)
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
+1 more
GPathogenic
CAV1
Deletion
(nonsense)
Inborn genetic diseases
GPathogenic
CAV1
(I103fs +1 more)
Deletion
(frameshift variant)
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
GPathogenic
CAV1
(E38* +1 more)
Single nucleotide variant
(nonsense)
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
GPathogenic
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