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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MFAP5
(K63fs +3 more)
Deletion
(frameshift variant +2 more)
Aortic aneurysm, familial thoracic 9
GLikely pathogenic
MFAP5
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
MFAP5
(N79I)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
MFAP5
(M1T)
Single nucleotide variant
(missense variant +2 more)
Aortic aneurysm, familial thoracic 9
+1 more
GConflicting classifications of pathogenicity
MFAP5
Single nucleotide variant
(synonymous variant +2 more)
not specified
+3 more
GBenign/Likely benign
MFAP5
(H132L +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
LOC126861443, MFAP5
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
MFAP5
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign/Likely benign
MFAP5
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 9
+3 more
GBenign
MFAP5
(W21L)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
MFAP5, LOC126861443
(R158* +4 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
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