U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 1247

  • The following terms were ignored: [, ]
  • See the search details.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARID1A
(N1956I +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 14
GLikely pathogenic
GJA8
(P88S)
Single nucleotide variant
(missense variant)
Cataract 1 multiple types
GPathogenic
GBA1, LOC106627981
(L483P +2 more)
Single nucleotide variant
(missense variant)
GBA1-related disorder
+15 more
GPathogenic; risk factor
GBA1, LOC106627981
(R115* +2 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
RIT1
(A57G +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 8
+7 more
GPathogenic
LMNA
(R453W +2 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic/Likely pathogenic
F5
(R534Q)
Single nucleotide variant
(missense variant)
hormonal contraceptives for systemic use response - Toxicity
Gdrug response
RYR2
(N3207D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
RYR2
(E3448Q)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
RYR2
(Y4725N)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
DPYSL5
(G47R)
Single nucleotide variant
(missense variant)
Dandy-Walker syndrome
+3 more
GConflicting classifications of pathogenicity
MSH6
Duplication
(nonsense)
Lynch syndrome
GLikely benign
ALMS1
(P225H +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
ALMS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
ALMS1
(K2101I +1 more)
Single nucleotide variant
(missense variant)
Alstrom syndrome
+2 more
GUncertain significance
ALMS1
(S2102W +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
ALMS1
(P2128S +1 more)
Single nucleotide variant
(missense variant)
Alstrom syndrome
+2 more
GUncertain significance
ALMS1
(P2186S +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
ALMS1
(I3219F +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
ALMS1
(N3453D +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ALMS1
(R3632H +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
ALMS1
(R3934H +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
ALMS1
(G3942S +1 more)
Single nucleotide variant
(missense variant)
Alstrom syndrome
+4 more
GBenign
ALMS1, LOC126806252
(R4027G +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
STARD7
Microsatellite
Epilepsy, familial adult myoclonic, 2
GPathogenic
SCN2A
(R36G)
Single nucleotide variant
(missense variant)
Seizures, benign familial infantile, 3
+2 more
GUncertain significance
SCN2A
(R102*)
Single nucleotide variant
(nonsense)
Episodic ataxia, type 9
+3 more
GPathogenic
SCN2A
(V198D)
Single nucleotide variant
(missense variant)
Complex neurodevelopmental disorder
GLikely pathogenic
SCN2A
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic
SCN2A
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
SCN2A
(A263V)
Single nucleotide variant
(missense variant)
Seizures, benign familial infantile, 3
+5 more
GPathogenic
SCN2A
(R275*)
Single nucleotide variant
(nonsense)
Developmental disorder
+4 more
GPathogenic
SCN2A
(D343H)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
SCN2A
(T400R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SCN2A
(Y428C)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
SCN2A
(E430A)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
SCN2A
(R607*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+4 more
GPathogenic
SCN2A
(R856Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
SCN2A
(I874fs)
Deletion
(frameshift variant)
not provided
GPathogenic
SCN2A
(G882E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GPathogenic
SCN2A
(G1073*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
SCN2A
(S1131fs)
Deletion
(frameshift variant)
not provided
GPathogenic
SCN2A
(E1133D)
Single nucleotide variant
(missense variant)
Complex neurodevelopmental disorder
GLikely pathogenic
SCN2A
(R1319L)
Single nucleotide variant
(missense variant)
Episodic ataxia, type 9
+1 more
GPathogenic
SCN2A
(R1319Q)
Single nucleotide variant
(missense variant)
Seizures, benign familial infantile, 3
+2 more
GPathogenic
SCN2A
(K1422E)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
SCN2A
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
SCN2A
(I1458del)
Microsatellite
(inframe_deletion)
not provided
GLikely pathogenic
SCN2A
Deletion
(nonsense)
not provided
GPathogenic
SCN2A
(M1501T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
SCN2A
(Q1531*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
SCN2A
Indel
(missense variant)
not specified
GUncertain significance
SCN2A
(G1576fs)
Deletion
(frameshift variant)
not provided
GPathogenic
SCN2A
(G1593R)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
SCN2A
(V1601L)
Single nucleotide variant
(missense variant)
Complex neurodevelopmental disorder
GLikely pathogenic
SCN2A
(I1615fs)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 11
+1 more
GPathogenic
SCN2A
(R1626Q)
Single nucleotide variant
(missense variant)
Seizures, benign familial infantile, 3
+2 more
GPathogenic
SCN2A
(R1635Q)
Single nucleotide variant
(missense variant)
Developmental disorder
+4 more
GPathogenic/Likely pathogenic
SCN2A
(L1650P)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
SCN2A
(S1758R)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
SCN2A
(A1773V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
SCN2A
(L1875F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SCN2A
(R1918C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
ABCB11
(V284A)
Single nucleotide variant
(missense variant)
ABCB11-related disorder
+2 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(W16766* +5 more)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+1 more
GLikely pathogenic
TTN, TTN-AS1
Single nucleotide variant
(splice acceptor variant)
Desmin-related myofibrillar myopathy
+2 more
GPathogenic/Likely pathogenic
TTN
(E10501* +2 more)
Single nucleotide variant
(nonsense +1 more)
Desmin-related myofibrillar myopathy
GLikely pathogenic
NEUROD1
Single nucleotide variant
(synonymous variant)
Maturity-onset diabetes of the young type 6
GPathogenic
DES, DES-LCR
Single nucleotide variant
(5 prime UTR variant)
Neurogenic scapuloperoneal syndrome, Kaeser type
+3 more
GUncertain significance
DES, DES-LCR
Single nucleotide variant
(5 prime UTR variant)
Dilated cardiomyopathy 1I
+2 more
GUncertain significance
DES-LCR, DES
Single nucleotide variant
(5 prime UTR variant)
Myofibrillar Myopathy, Dominant
+4 more
GBenign/Likely benign
DES
Single nucleotide variant
(5 prime UTR variant)
Dilated cardiomyopathy 1I
+4 more
GUncertain significance
DES
(M1V)
Single nucleotide variant
(missense variant +1 more)
Desmin-related myofibrillar myopathy
+1 more
GLikely pathogenic
DES
(M1T)
Single nucleotide variant
(missense variant +1 more)
Desmin-related myofibrillar myopathy
GLikely pathogenic
DES
(S2I)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+1 more
GPathogenic/Likely pathogenic
DES
(Q3*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
DES
(Q3R)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
Single nucleotide variant
(synonymous variant)
Desmin-related myofibrillar myopathy
+1 more
GLikely benign
DES
(A4T)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
(A4D)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
Single nucleotide variant
(synonymous variant)
Desmin-related myofibrillar myopathy
GLikely benign
DES
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
DES
(S6W)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+1 more
GUncertain significance
DES
(S6L)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GConflicting classifications of pathogenicity
DES
(S8G)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
(R10C)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+1 more
GUncertain significance
DES
(R10S)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
(R10H)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
Single nucleotide variant
(synonymous variant)
Desmin-related myofibrillar myopathy
GLikely benign
DES
(V11M)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
(V11L)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
(V11A)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
(S12F)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+3 more
GPathogenic/Likely pathogenic
DES
Single nucleotide variant
(synonymous variant)
Desmin-related myofibrillar myopathy
GLikely benign
DES
(S13P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
DES
(S13Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DES
(S13F)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+2 more
GPathogenic
DES
(Y14H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
DES
(R15G)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
Format
Items per page
Sort by
Choose Destination