U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 68

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MC4R
(D146N)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
GUncertain significance
MC4R
(L300P)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
+1 more
GUncertain significance
MC4R
(Y212fs)
Deletion
(frameshift variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
GUncertain significance
ALDOA, ASPHD1
+28 more
Copy number loss
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
GPathogenic
MC4R
(L325I)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
GUncertain significance
MC4R
(N74I)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
GUncertain significance
MC4R
(P299S)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
GUncertain significance
MC4R
(S58fs)
Deletion
(frameshift variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
GPathogenic
MC4R
(G252S)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
+1 more
GUncertain significance
MC4R
(C279R)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
GUncertain significance
MC4R
(R18L)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
+1 more
GUncertain significance
MC4R
(D146V)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
GUncertain significance
MC4R
(L86F)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
GLikely pathogenic
MC4R
(H283Y)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
GUncertain significance
MC4R
(C277*)
Single nucleotide variant
(nonsense)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
GPathogenic
MC4R
(D90N)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
GPathogenic
MC4R
(R165W)
Single nucleotide variant
(missense variant)
Obesity due to melanocortin 4 receptor deficiency
+3 more
GPathogenic/Likely pathogenic
MC4R
(G231S)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
+1 more
GUncertain significance
MC4R
(G181D)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
GLikely pathogenic
MC4R
(P260Q)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
GLikely pathogenic
MC4R
(S136F)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
GPathogenic
MC4R
(Y35* +1 more)
Single nucleotide variant
(nonsense +1 more)
Obesity
GPathogenic
MC4R
(T5N)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
+1 more
GUncertain significance
MC4R
(T11A)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
+3 more
GUncertain significance
MC4R
(N240S)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
+3 more
GUncertain significance
MC4R
(P272R)
Single nucleotide variant
(missense variant)
Obesity
+1 more
GUncertain significance
MC4R
Single nucleotide variant
(5 prime UTR variant)
Obesity
+1 more
GUncertain significance
MC4R
Single nucleotide variant
(5 prime UTR variant)
Obesity
+1 more
GUncertain significance
MC4R
(T112M)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
+2 more
GConflicting classifications of pathogenicity
MC4R
(Q156*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
MC4R
(V166I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MC4R
(L250Q)
Single nucleotide variant
(missense variant)
MC4R-related disorder
+2 more
GConflicting classifications of pathogenicity
MC4R
(S295P)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
+1 more
GUncertain significance
MC4R
(R305Q)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
+1 more
GUncertain significance
MC4R
(T162I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MC4R
(E61K)
Single nucleotide variant
(missense variant)
Obesity due to melanocortin 4 receptor deficiency
+4 more
GPathogenic/Likely pathogenic
MC4R
(Y80C)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
MC4R
(T150I)
Single nucleotide variant
(missense variant)
Obesity
+4 more
GLikely pathogenic
MC4R
(I251fs)
Deletion
(frameshift variant)
not provided
+4 more
GPathogenic/Likely pathogenic
MC4R
(Y276C)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
MC4R
(C271R)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
+1 more
GPathogenic/Likely pathogenic
MC4R
(R165Q)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
+3 more
GPathogenic/Likely pathogenic
MC4R
(V103I)
Single nucleotide variant
(missense variant)
Obesity
+3 more
GBenign
MC4R
(I251L)
Single nucleotide variant
(missense variant)
MC4R-related disorder
+5 more
GBenign/Likely benign
MC4R
(P299H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
MC4R
(F280fs)
Microsatellite
(frameshift variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
+4 more
GPathogenic/Likely pathogenic
MC4R
(I269N)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
MC4R
(A219V)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
GPathogenic
MC4R
(S127L)
Single nucleotide variant
(missense variant)
Obesity due to melanocortin 4 receptor deficiency
+3 more
GConflicting classifications of pathogenicity
MC4R
Deletion
(inframe_deletion)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
GPathogenic
MC4R
(N62S)
Single nucleotide variant
(missense variant)
Obesity due to melanocortin 4 receptor deficiency
GLikely pathogenic
MC4R
(N97D)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
GPathogenic
MC4R
(Y287*)
Single nucleotide variant
(nonsense)
Obesity due to melanocortin 4 receptor deficiency
GPathogenic
MC4R
(I316S)
Single nucleotide variant
(missense variant)
Obesity due to melanocortin 4 receptor deficiency
+2 more
GPathogenic/Likely pathogenic
MC4R
(A175T)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
+4 more
GConflicting classifications of pathogenicity
MC4R
(C271Y)
Single nucleotide variant
(missense variant)
Obesity due to melanocortin 4 receptor deficiency
+1 more
GPathogenic
MC4R
Inversion
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
GPathogenic
MC4R
Insertion
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
GPathogenic
MC4R
Insertion
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
GPathogenic
MC4R
(N274S)
Single nucleotide variant
(missense variant)
MC4R-related disorder
+2 more
GConflicting classifications of pathogenicity
MC4R
(I170V)
Single nucleotide variant
(missense variant)
MC4R-related disorder
+2 more
GConflicting classifications of pathogenicity
MC4R
(I102S)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
GPathogenic
MC4R
(S58C)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
GPathogenic
MC4R
(V50M)
Single nucleotide variant
(missense variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
GPathogenic
MC4R
(D37V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MC4R
(Y35*)
Single nucleotide variant
(nonsense)
Obesity due to melanocortin 4 receptor deficiency
+3 more
GPathogenic
MC4R
(T246fs)
Duplication
(frameshift variant)
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
GPathogenic
MC4R
(L211fs)
Microsatellite
(frameshift variant)
MC4R-related disorder
GPathogenic
Format
Items per page
Sort by
Choose Destination