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Links from MedGen

Items: 1 to 100 of 144

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCC9
(H1505N)
Single nucleotide variant
(missense variant +1 more)
Hypertrichotic osteochondrodysplasia Cantu type
GUncertain significance
ABCC9
(Y696S +1 more)
Single nucleotide variant
(missense variant)
Hypertrichotic osteochondrodysplasia Cantu type
GPathogenic
ABCC9
(L1170F +1 more)
Single nucleotide variant
(missense variant)
Hypertrichotic osteochondrodysplasia Cantu type
GLikely pathogenic
KCNJ8
(G238R)
Single nucleotide variant
(missense variant)
Hypertrichotic osteochondrodysplasia Cantu type
GLikely pathogenic
ABCC9
(G1050fs +1 more)
Deletion
(frameshift variant)
not provided
+4 more
GUncertain significance
ABCC9
(L95F +1 more)
Single nucleotide variant
(missense variant)
Hypertrichotic osteochondrodysplasia Cantu type
+3 more
GUncertain significance
ABCC9
(A265S +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
+3 more
GUncertain significance
KCNJ8
(E111G)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
ABCC9
(S99T)
Single nucleotide variant
(missense variant +1 more)
Hypertrichotic osteochondrodysplasia Cantu type
+3 more
GUncertain significance
ABCC9
(T1202M +1 more)
Single nucleotide variant
(missense variant)
Hypertrichotic osteochondrodysplasia Cantu type
+1 more
GPathogenic
ABCC9
(E1021K +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability and myopathy syndrome
+6 more
GUncertain significance
ABCC9
Duplication
(intron variant)
Hypertrichotic osteochondrodysplasia Cantu type
+1 more
GBenign
ABCC9
Single nucleotide variant
(intron variant)
Hypertrichotic osteochondrodysplasia Cantu type
+1 more
GBenign
ABCC9
Single nucleotide variant
(intron variant)
Hypertrichotic osteochondrodysplasia Cantu type
+1 more
GBenign
ABCC9
(L1068P +1 more)
Single nucleotide variant
(missense variant)
Hypertrichotic osteochondrodysplasia Cantu type
GLikely pathogenic
ABCC9
(I377V +1 more)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 12
+5 more
GConflicting classifications of pathogenicity
ABCC9
(K241N)
Single nucleotide variant
(missense variant +1 more)
Hypertrichotic osteochondrodysplasia Cantu type
+3 more
GUncertain significance
ABCC9
Single nucleotide variant
(stop lost +1 more)
Dilated cardiomyopathy 1O
+3 more
GUncertain significance
ABCC9
(A651S +1 more)
Single nucleotide variant
(missense variant)
Hypertrichotic osteochondrodysplasia Cantu type
+4 more
GUncertain significance
ABCC9
(A775P +1 more)
Single nucleotide variant
(missense variant)
Hypertrichotic osteochondrodysplasia Cantu type
GLikely pathogenic
ABCC9
(L128S +1 more)
Single nucleotide variant
(missense variant)
Hypertrichotic osteochondrodysplasia Cantu type
GUncertain significance
ABCC9
(L3V)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability and myopathy syndrome
+3 more
GUncertain significance
ABCC9
(P67L)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
ABCC9
(L338P +1 more)
Single nucleotide variant
(missense variant)
Hypertrichotic osteochondrodysplasia Cantu type
+2 more
GUncertain significance
ABCC9
Single nucleotide variant
(intron variant)
Hypertrichotic osteochondrodysplasia Cantu type
+1 more
GConflicting classifications of pathogenicity
ABCC9
(V1507F)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
+1 more
GUncertain significance
ABCC9
Single nucleotide variant
(synonymous variant)
Hypertrichotic osteochondrodysplasia Cantu type
+2 more
GConflicting classifications of pathogenicity
ABCC9
Single nucleotide variant
(synonymous variant)
Hypertrichotic osteochondrodysplasia Cantu type
+1 more
GUncertain significance
ABCC9
(G720S +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
+1 more
GUncertain significance
ABCC9
Single nucleotide variant
(synonymous variant)
Hypertrichotic osteochondrodysplasia Cantu type
+1 more
GUncertain significance
ABCC9
Single nucleotide variant
(synonymous variant)
Hypertrichotic osteochondrodysplasia Cantu type
+1 more
GUncertain significance
ABCC9
(A1513T)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
ABCC9
(M443I +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
+5 more
GUncertain significance
ABCC9
(E955K +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
ABCC9
(L610fs +1 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1O
+5 more
GUncertain significance
ABCC9
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GLikely benign
ABCC9
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1O
+4 more
GConflicting classifications of pathogenicity
ABCC9
(I1397V +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
+3 more
GUncertain significance
ABCC9
Deletion
(intron variant)
Intellectual disability and myopathy syndrome
+3 more
GBenign/Likely benign
ABCC9
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ABCC9
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ABCC9
(P568L +1 more)
Single nucleotide variant
(missense variant)
Hypertrichotic osteochondrodysplasia Cantu type
GLikely pathogenic
ABCC9
(S2N)
Single nucleotide variant
(missense variant +1 more)
Hypertrichotic osteochondrodysplasia Cantu type
+3 more
GUncertain significance
ABCC9
(S1402C +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability and myopathy syndrome
+4 more
GUncertain significance
ABCC9
(T771I +1 more)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 12
+4 more
GUncertain significance
ABCC9
Single nucleotide variant
(splice acceptor variant)
Dilated cardiomyopathy 1O
+4 more
GUncertain significance
ABCC9
(R1217K +1 more)
Single nucleotide variant
(missense variant)
Hypertrichotic osteochondrodysplasia Cantu type
GLikely pathogenic
ABCC9
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
ABCC9
(E953K +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
ABCC9
(E955D +1 more)
Single nucleotide variant
(missense variant)
Hypertrichotic osteochondrodysplasia Cantu type
+5 more
GUncertain significance
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
+3 more
GConflicting classifications of pathogenicity
ABCC9
Single nucleotide variant
(intron variant)
Intellectual disability and myopathy syndrome
+4 more
GBenign/Likely benign
ABCC9
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
ABCC9
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1O
+3 more
GConflicting classifications of pathogenicity
ABCC9
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
ABCC9
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1O
+5 more
GLikely benign
ABCC9
(R660Q +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
ABCC9
(R694* +1 more)
Single nucleotide variant
(nonsense)
not provided
+4 more
GUncertain significance
ABCC9
(G294E +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
ABCC9
(V867I +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
+5 more
GUncertain significance
ABCC9
(R1197C +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
ABCC9
(R824* +1 more)
Single nucleotide variant
(nonsense)
Hypertrichotic osteochondrodysplasia Cantu type
+5 more
GUncertain significance
ABCC9
(R1197H +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
+5 more
GUncertain significance
ABCC9
Single nucleotide variant
(intron variant)
Hypertrichotic osteochondrodysplasia Cantu type
+5 more
GLikely benign
ABCC9
(F293S +1 more)
Single nucleotide variant
(missense variant)
Hypertrichotic osteochondrodysplasia Cantu type
GLikely pathogenic
ABCC9
Single nucleotide variant
(synonymous variant +1 more)
Hypertrichotic osteochondrodysplasia Cantu type
+2 more
GConflicting classifications of pathogenicity
ABCC9
(W49S)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
+1 more
GUncertain significance
ABCC9
Single nucleotide variant
(synonymous variant +1 more)
Hypertrichotic osteochondrodysplasia Cantu type
+2 more
GConflicting classifications of pathogenicity
ABCC9
(C156R)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
ABCC9
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1O
+1 more
GUncertain significance
ABCC9
(R281Q)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
+2 more
GUncertain significance
ABCC9
Deletion
(intron variant)
Dilated Cardiomyopathy, Dominant
+3 more
GConflicting classifications of pathogenicity
ABCC9
Deletion
(intron variant)
Dilated Cardiomyopathy, Dominant
+2 more
GUncertain significance
ABCC9
Single nucleotide variant
(synonymous variant)
Hypertrichotic osteochondrodysplasia Cantu type
+2 more
GConflicting classifications of pathogenicity
ABCC9
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ABCC9
(T557S +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
+1 more
GUncertain significance
ABCC9
Single nucleotide variant
(synonymous variant)
Hypertrichotic osteochondrodysplasia Cantu type
+2 more
GConflicting classifications of pathogenicity
ABCC9
Deletion
(intron variant)
Familial atrial fibrillation
+5 more
GBenign/Likely benign
ABCC9
Deletion
(intron variant)
Dilated Cardiomyopathy, Dominant
+2 more
GUncertain significance
ABCC9
Single nucleotide variant
(intron variant)
Hypertrichotic osteochondrodysplasia Cantu type
+1 more
GUncertain significance
ABCC9
(R1186W +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
+1 more
GUncertain significance
ABCC9
Single nucleotide variant
(intron variant)
Hypertrichotic osteochondrodysplasia Cantu type
+1 more
GConflicting classifications of pathogenicity
ABCC9
Single nucleotide variant
(intron variant)
Dilated Cardiomyopathy, Dominant
+2 more
GUncertain significance
ABCC9
Single nucleotide variant
(intron variant)
Hypertrichotic osteochondrodysplasia Cantu type
+2 more
GBenign
ABCC9
Single nucleotide variant
(intron variant)
Hypertrichotic osteochondrodysplasia Cantu type
+2 more
GBenign
ABCC9
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
ABCC9
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
+2 more
GConflicting classifications of pathogenicity
ABCC9
(T659A +1 more)
Single nucleotide variant
(missense variant)
Hypertrichotic osteochondrodysplasia Cantu type
+3 more
GUncertain significance
ABCC9
(P1531S)
Single nucleotide variant
(missense variant +1 more)
not specified
+6 more
GConflicting classifications of pathogenicity
ABCC9
(D617N +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
+5 more
GUncertain significance
ABCC9
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1O
+4 more
GConflicting classifications of pathogenicity
ABCC9
(A1535T)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
ABCC9
(V1525fs)
Insertion
(frameshift variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
ABCC9
(R661C +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
ABCC9
(P739A +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
ABCC9
(M1198I +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
+5 more
GUncertain significance
ABCC9
(R660W +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
+5 more
GUncertain significance
ABCC9
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ABCC9
(S1400fs +1 more)
Duplication
(frameshift variant)
not provided
+5 more
GUncertain significance
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