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Links from MedGen

Items: 77

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYBPC1
(R195G +6 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 1B
GLikely pathogenic
MYBPC1
Single nucleotide variant
(intron variant)
Arthrogryposis, distal, type 1B
+3 more
GBenign
MYBPC1
Single nucleotide variant
(intron variant)
Arthrogryposis, distal, type 1B
+3 more
GBenign
MYBPC1
(G46fs +4 more)
Deletion
(frameshift variant)
Arthrogryposis, distal, type 1B
GUncertain significance
MYBPC1
Single nucleotide variant
(intron variant)
Arthrogryposis, distal, type 1B
+3 more
GBenign
MYBPC1
(R108Q +4 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 1B
+3 more
GUncertain significance
MYBPC1
Single nucleotide variant
(intron variant)
Arthrogryposis, distal, type 1B
GUncertain significance
MYBPC1
Single nucleotide variant
(intron variant)
Arthrogryposis, distal, type 1B
GBenign
MYBPC1
Single nucleotide variant
(3 prime UTR variant)
Arthrogryposis, distal, type 1B
+1 more
GBenign/Likely benign
MYBPC1
Single nucleotide variant
(synonymous variant)
MYBPC1-related disorder
+1 more
GLikely benign
MYBPC1
(G980R +7 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 1B
GUncertain significance
MYBPC1
(I431V +6 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 1B
GBenign
MYBPC1
(Q416E +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
LOC105369937, MYBPC1
(R388G +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
MYBPC1, LOC105369937
(S374P +6 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 1B
GUncertain significance
MYBPC1
(A891T +7 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 1B
GUncertain significance
MYBPC1
(V882M +7 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 1B
GUncertain significance
MYBPC1
(R809C +7 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 1B
GBenign
LOC105369937, MYBPC1
(R332T +6 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 1B
GUncertain significance
MYBPC1
(H768L +6 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 1B
GUncertain significance
MYBPC1
Single nucleotide variant
(synonymous variant)
Arthrogryposis, distal, type 1B
GBenign
MYBPC1
(R681H +6 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 1B
GUncertain significance
MYBPC1
Single nucleotide variant
(intron variant)
Arthrogryposis, distal, type 1B
GUncertain significance
MYBPC1
Single nucleotide variant
(intron variant)
Arthrogryposis, distal, type 1B
GUncertain significance
MYBPC1
(C1068Y +7 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 1B
GUncertain significance
MYBPC1
Single nucleotide variant
(3 prime UTR variant)
Arthrogryposis, distal, type 1B
GBenign
MYBPC1
Single nucleotide variant
(3 prime UTR variant)
Arthrogryposis, distal, type 1B
GUncertain significance
MYBPC1
Single nucleotide variant
(3 prime UTR variant)
Arthrogryposis, distal, type 1B
GUncertain significance
MYBPC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Myopathy, congenital, with tremor
+3 more
GBenign
MYBPC1
(S1166F)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GBenign/Likely benign
MYBPC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MYBPC1
Single nucleotide variant
(synonymous variant)
Arthrogryposis, distal, type 1B
+1 more
GBenign/Likely benign
MYBPC1
(M1088L +7 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 1B
GUncertain significance
MYBPC1
(I970L +7 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 1B
GUncertain significance
MYBPC1
(V860A +7 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 1B
+1 more
GUncertain significance
MYBPC1
(I841T +7 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 1B
+1 more
GConflicting classifications of pathogenicity
MYBPC1
Single nucleotide variant
(synonymous variant)
Arthrogryposis, distal, type 1B
GBenign
MYBPC1
Single nucleotide variant
(synonymous variant)
Arthrogryposis, distal, type 1B
GUncertain significance
MYBPC1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
MYBPC1
Single nucleotide variant
(synonymous variant)
Arthrogryposis, distal, type 1B
GLikely benign
MYBPC1
Single nucleotide variant
(synonymous variant)
Arthrogryposis, distal, type 1B
+1 more
GBenign
MYBPC1
(L568P +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MYBPC1
Single nucleotide variant
(synonymous variant)
Arthrogryposis, distal, type 1B
GBenign
MYBPC1
(A518V +6 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 1B
GUncertain significance
MYBPC1
(P486Q +6 more)
Single nucleotide variant
(missense variant)
MYBPC1-related disorder
+3 more
GConflicting classifications of pathogenicity
LOC105369937, MYBPC1
(R417K +6 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 1B
+1 more
GBenign/Likely benign
MYBPC1
Single nucleotide variant
(synonymous variant)
Arthrogryposis, distal, type 1B
GBenign
MYBPC1
Single nucleotide variant
(synonymous variant)
Arthrogryposis, distal, type 1B
GUncertain significance
MYBPC1
Single nucleotide variant
(intron variant)
Arthrogryposis, distal, type 1B
+3 more
GBenign/Likely benign
MYBPC1
Single nucleotide variant
(intron variant)
MYBPC1-related disorder
+1 more
GBenign/Likely benign
MYBPC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MYBPC1
Single nucleotide variant
(intron variant)
Arthrogryposis, distal, type 1B
+1 more
GBenign
MYBPC1
Single nucleotide variant
(synonymous variant)
Arthrogryposis, distal, type 1B
GUncertain significance
MYBPC1
Single nucleotide variant
(synonymous variant)
Arthrogryposis, distal, type 1B
+1 more
GBenign/Likely benign
MYBPC1
Single nucleotide variant
(intron variant)
MYBPC1-related disorder
+1 more
GBenign/Likely benign
MYBPC1
(K6M)
Single nucleotide variant
(missense variant)
MYBPC1-related disorder
+1 more
GBenign/Likely benign
MYBPC1
Single nucleotide variant
(5 prime UTR variant)
Arthrogryposis, distal, type 1B
GBenign
MYBPC1
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
MYBPC1
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
MYBPC1
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
MYBPC1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
MYBPC1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
MYBPC1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
MYBPC1
(V64A +4 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
MYBPC1
Deletion
(intron variant)
not specified
+4 more
GBenign
MYBPC1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
MYBPC1
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign/Likely benign
MYBPC1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
MYBPC1
Single nucleotide variant
(synonymous variant)
Myopathy, congenital, with tremor
+4 more
GBenign
MYBPC1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
MYBPC1
Single nucleotide variant
(synonymous variant)
Myopathy, congenital, with tremor
+4 more
GBenign
MYBPC1
Single nucleotide variant
(synonymous variant)
Myopathy, congenital, with tremor
+4 more
GBenign
MYBPC1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
MYBPC1
(H506Q +6 more)
Single nucleotide variant
(missense variant)
Myopathy, congenital, with tremor
+4 more
GBenign
MYBPC1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
MYBPC1
(Y856H +7 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 1B
GUncertain significance
MYBPC1
(W236R +6 more)
Single nucleotide variant
(missense variant)
Arthrogryposis, distal, type 1B
GPathogenic
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