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Items: 1 to 100 of 315700

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MC4R
(R236fs)
Deletion
(frameshift variant)
Obesity due to melanocortin 4 receptor deficiency
GLikely pathogenic
MC4R
(Y302*)
Single nucleotide variant
(nonsense)
Obesity due to melanocortin 4 receptor deficiency
GLikely pathogenic
MC4R
(S116fs)
Microsatellite
(frameshift variant)
Obesity due to melanocortin 4 receptor deficiency
GPathogenic
PKP2
(D460N +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GLikely pathogenic
TTN, TTN-AS1
(V11853fs +5 more)
Deletion
(frameshift variant)
Primary dilated cardiomyopathy
GLikely pathogenic
MIR208B, LOC126861897
+2 more
Deletion
Primary dilated cardiomyopathy
GLikely pathogenic
PKP2
(Q129* +1 more)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular cardiomyopathy
GLikely pathogenic
LDLR
Deletion
(splice acceptor variant +2 more)
Homozygous familial hypercholesterolemia
GLikely pathogenic
FBN1
(G255fs)
Duplication
(frameshift variant)
Marfan syndrome
GPathogenic
KCNQ1
(P64fs)
Deletion
(frameshift variant +1 more)
Congenital long QT syndrome
GLikely pathogenic
ACVRL1
(Y182fs +2 more)
Deletion
(frameshift variant)
Hereditary hemorrhagic telangiectasia
GLikely pathogenic
BRCA2
(C1975fs)
Duplication
(frameshift variant +2 more)
Hereditary breast ovarian cancer syndrome
GPathogenic
BRCA2
(P1519fs)
Deletion
(frameshift variant +2 more)
Hereditary breast ovarian cancer syndrome
GPathogenic
BRCA2
(N830fs)
Insertion
(frameshift variant +2 more)
Hereditary breast ovarian cancer syndrome
GPathogenic
SDHB
(G28fs)
Deletion
(frameshift variant)
Hereditary pheochromocytoma-paraganglioma
GLikely pathogenic
LDLR
Duplication
Homozygous familial hypercholesterolemia
GLikely pathogenic
TSC1
(E538* +15 more)
Single nucleotide variant
(nonsense +1 more)
Tuberous sclerosis syndrome
GLikely pathogenic
TGFBR1
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
RET
Variation
(synonymous variant +2 more)
not specified
GBenign
TP53
(G103fs +3 more)
Insertion
(frameshift variant +1 more)
Li-Fraumeni syndrome
GLikely pathogenic
OTC
(K289fs)
Deletion
(frameshift variant)
Ornithine carbamoyltransferase deficiency
GLikely pathogenic
TSC1
Single nucleotide variant
(splice acceptor variant)
Tuberous sclerosis syndrome
GPathogenic
LDLR
Deletion
Homozygous familial hypercholesterolemia
GLikely pathogenic
LDLR
Deletion
Homozygous familial hypercholesterolemia
GLikely pathogenic
TSC1
Deletion
(splice acceptor variant)
Tuberous sclerosis syndrome
GPathogenic
BRCA2
(Y1324fs)
Insertion
(frameshift variant +2 more)
Hereditary breast ovarian cancer syndrome
GPathogenic
TTN-AS1, TTN
(Y16742* +5 more)
Single nucleotide variant
(nonsense)
Primary dilated cardiomyopathy
GLikely pathogenic
COL3A1
(P191fs)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome, type 4
GLikely pathogenic
TTN
(E4090fs +4 more)
Deletion
(frameshift variant +1 more)
Primary dilated cardiomyopathy
GLikely pathogenic
LDLR
Deletion
Homozygous familial hypercholesterolemia
GPathogenic
TTN, TTN-AS1
(G20949* +5 more)
Single nucleotide variant
(nonsense)
Primary dilated cardiomyopathy
GLikely pathogenic
TSC2
(I1090fs +34 more)
Duplication
(frameshift variant +1 more)
Tuberous sclerosis syndrome
GPathogenic
MEN1
(E389fs +5 more)
Duplication
(frameshift variant +2 more)
Multiple endocrine neoplasia, type 1
GLikely pathogenic
KCNH2
(A1017fs +2 more)
Insertion
(frameshift variant +1 more)
Congenital long QT syndrome
GLikely pathogenic
DSP
(N1526fs)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
KCNH2
Duplication
Congenital long QT syndrome
GLikely pathogenic
COL7A1
Single nucleotide variant
(splice donor variant)
Epidermolysis bullosa dystrophica
GLikely pathogenic
LOC113939944, FBN1
Duplication
(frameshift variant)
Marfan syndrome
GPathogenic
TSC2
(S1024fs +34 more)
Duplication
(frameshift variant +1 more)
Tuberous sclerosis syndrome
GPathogenic
FBN1
(H2579fs)
Duplication
(frameshift variant)
Marfan syndrome
GPathogenic
MSH2
(R39fs)
Duplication
(frameshift variant +3 more)
Lynch syndrome
GPathogenic
DSP
(L1037fs)
Duplication
(frameshift variant)
Arrhythmogenic right ventricular cardiomyopathy
GLikely pathogenic
MYBPC3
(A27fs)
Duplication
(frameshift variant)
Cardiomyopathy
GPathogenic
MYBPC3
(V790fs)
Duplication
(frameshift variant)
Hypertrophic cardiomyopathy
GPathogenic
TGFBR2
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
GUncertain significance
WDR72
(W674fs)
Duplication
(frameshift variant +1 more)
Amelogenesis imperfecta
GLikely pathogenic
MUTYH
Deletion
Familial adenomatous polyposis 2
GLikely pathogenic
ALG3
(C259* +2 more)
Single nucleotide variant
(nonsense +1 more)
Congenital disorder of glycosylation
GLikely pathogenic
KCNH2
(T1019fs +2 more)
Insertion
(frameshift variant +1 more)
Congenital long QT syndrome
GLikely pathogenic
LOC110121269, SCN5A
(L985fs)
Deletion
(frameshift variant +1 more)
Brugada syndrome
GLikely pathogenic
KCNH2
Deletion
(splice donor variant)
Congenital long QT syndrome
GLikely pathogenic
MYBPC3
Duplication
Hypertrophic cardiomyopathy
GPathogenic
KCNH2
Deletion
(nonsense +1 more)
Congenital long QT syndrome
GLikely pathogenic
BRCA2
(Q853fs)
Insertion
(frameshift variant +2 more)
Hereditary breast ovarian cancer syndrome
GPathogenic
ELN
(G643* +11 more)
Single nucleotide variant
(nonsense)
Supravalvar aortic stenosis
GPathogenic
PKP2
(P7fs)
Deletion
(frameshift variant +1 more)
Arrhythmogenic right ventricular cardiomyopathy
GLikely pathogenic
TSC1
Single nucleotide variant
(splice acceptor variant)
Tuberous sclerosis syndrome
GPathogenic
BRCA2
(M1745fs)
Duplication
(frameshift variant +2 more)
Hereditary breast ovarian cancer syndrome
GPathogenic
ACVRL1
(L135fs)
Deletion
(frameshift variant +1 more)
Hereditary hemorrhagic telangiectasia
GLikely pathogenic
KCNH2
(D556fs +2 more)
Deletion
(frameshift variant +1 more)
Congenital long QT syndrome
GLikely pathogenic
PKP2
(A217fs +1 more)
Insertion
(frameshift variant)
Arrhythmogenic right ventricular cardiomyopathy
GLikely pathogenic
PKP2
(G5fs)
Deletion
(frameshift variant +1 more)
Arrhythmogenic right ventricular cardiomyopathy
GLikely pathogenic
KCNH2
Deletion
(splice donor variant)
Congenital long QT syndrome
GLikely pathogenic
OTOG
(R1590fs +1 more)
Deletion
(frameshift variant)
Rare genetic deafness
GLikely pathogenic
PMS2
(S113* +2 more)
Single nucleotide variant
(intron variant +3 more)
Lynch syndrome
GPathogenic
APOB
(T1380fs)
Microsatellite
(frameshift variant)
Hypobetalipoproteinemia
GLikely pathogenic
RET
(C137* +12 more)
Single nucleotide variant
(nonsense +1 more)
Aganglionic megacolon
GPathogenic
APOB
(H2967fs)
Duplication
(frameshift variant)
Hypobetalipoproteinemia
GLikely pathogenic
FANCD2, LOC107303338
Single nucleotide variant
(splice donor variant)
Fanconi anemia
GLikely pathogenic
EDA
(Q128fs)
Deletion
(frameshift variant)
Hypohidrotic X-linked ectodermal dysplasia
GPathogenic
OTOGL
Single nucleotide variant
(splice donor variant)
Rare genetic deafness
GLikely pathogenic
PLCE1
(G308fs +1 more)
Duplication
(frameshift variant)
Finnish congenital nephrotic syndrome
GPathogenic
C2, C2-AS1
(R109* +4 more)
Single nucleotide variant
(nonsense)
Complement component 2 deficiency
GUncertain significance
EDA
Deletion
Hypohidrotic X-linked ectodermal dysplasia
GPathogenic
GYS1
(G266fs +1 more)
Microsatellite
(frameshift variant +1 more)
Glycogen storage disease
GLikely pathogenic
UBR1
Single nucleotide variant
(splice acceptor variant)
Johanson-Blizzard syndrome
GLikely pathogenic
ADAMTSL4, ADAMTSL4-AS2
(Q596* +1 more)
Single nucleotide variant
(nonsense)
Isolated ectopia lentis
GPathogenic
TTN, TTN-AS1
(Q18265* +5 more)
Single nucleotide variant
(nonsense)
Primary dilated cardiomyopathy
GLikely pathogenic
FBN1, LOC113939944
+5 more
Deletion
Marfan syndrome
GPathogenic
FBN1
(V1756fs)
Deletion
(frameshift variant)
Marfan syndrome
GPathogenic
EDA
Deletion
Hypohidrotic X-linked ectodermal dysplasia
GPathogenic
MYO7A
Single nucleotide variant
(intron variant)
Rare genetic deafness
GLikely pathogenic
PADI6
(Q241*)
Single nucleotide variant
(nonsense)
Preimplantation embryonic lethality 2
GLikely pathogenic
DONSON
(G313fs)
Deletion
(frameshift variant)
Microcephaly, short stature, and limb abnormalities
GLikely pathogenic
CERKL
(Q280* +4 more)
Single nucleotide variant
(nonsense +1 more)
Retinitis pigmentosa
GLikely pathogenic
PEX19
(W202fs)
Deletion
(frameshift variant +1 more)
Zellweger spectrum disorders
GLikely pathogenic
WDR62
(Q382* +2 more)
Single nucleotide variant
(nonsense)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
GLikely pathogenic
FBN1
(S2005fs)
Insertion
(frameshift variant)
Marfan syndrome
GLikely pathogenic
PIEZO1
(Y1194* +1 more)
Single nucleotide variant
(nonsense)
Diffuse lymphatic malformation
GLikely pathogenic
POMT1
(D62fs +1 more)
Deletion
(frameshift variant +2 more)
Walker-Warburg congenital muscular dystrophy
GLikely pathogenic
KCNT2
(R898*)
Single nucleotide variant
(nonsense +2 more)
not specified
GLikely benign
KMT2E
(E182fs)
Duplication
(frameshift variant)
Neurodevelopmental disorder
GLikely pathogenic
PCDH12, RNF14
(Y318*)
Single nucleotide variant
(nonsense)
Diencephalic-mesencephalic junction dysplasia
GLikely pathogenic
COL9A1
(G101fs +1 more)
Deletion
(frameshift variant +1 more)
Stickler syndrome
GLikely pathogenic
ADCY3
(W462* +2 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
DNAH17, DNAH17-AS1
(D2341fs)
Duplication
(frameshift variant)
Male infertility with spermatogenesis disorder
GLikely pathogenic
CYP4V2, LOC129993526
(W16*)
Single nucleotide variant
(nonsense)
Bietti crystalline corneoretinal dystrophy
GLikely pathogenic
PDZD7
(Q737fs)
Deletion
(frameshift variant)
Nonsyndromic genetic hearing loss
GLikely pathogenic
VWF
(W502*)
Single nucleotide variant
(nonsense)
Hereditary von Willebrand disease
GLikely pathogenic
TTN
(P11438fs)
Insertion
(frameshift variant +1 more)
not specified
GLikely benign
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