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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MC4R
(P260Q)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
GLikely pathogenic
MC4R
(I251L)
Single nucleotide variant
(missense variant)
MC4R-related disorder
+5 more
GBenign/Likely benign
MC4R
(R165W)
Single nucleotide variant
(missense variant)
Obesity due to melanocortin 4 receptor deficiency
+3 more
GPathogenic/Likely pathogenic
MC4R
(V103I)
Single nucleotide variant
(missense variant)
Obesity
+3 more
GBenign
MC4R
(Y80*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
MC4R
(D37V)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
MC4R
(Y35*)
Single nucleotide variant
(nonsense)
Obesity due to melanocortin 4 receptor deficiency
+3 more
GPathogenic
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