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 636

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX10
(M1V)
Single nucleotide variant
(missense variant +2 more)
Peroxisome biogenesis disorder 6A (Zellweger)
+3 more
GPathogenic/Likely pathogenic
MTOR
(V571M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MTOR
(R132C)
Single nucleotide variant
(5 prime UTR variant +1 more)
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
+1 more
GUncertain significance
LOC106501713, CLCNKB
(Y297fs +1 more)
Deletion
(frameshift variant)
Bartter disease type 3
+2 more
GPathogenic
ALPL
(V95M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
ALPL
(S181L +2 more)
Single nucleotide variant
(missense variant)
Childhood hypophosphatasia
+5 more
GPathogenic/Likely pathogenic
RPL11
Microsatellite
(nonsense)
not provided
+1 more
GPathogenic
SLC2A1
(G84S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GUncertain significance
MMACHC
(R91fs +1 more)
Duplication
(frameshift variant)
MMACHC-related disorder
+6 more
GPathogenic
POMGNT1
(R63* +1 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+2 more
GPathogenic
CPT2
(S113L)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
+7 more
GPathogenic/Likely pathogenic
ACADM
(W46fs +2 more)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
ACADM
(K144del +3 more)
Microsatellite
(inframe_deletion +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ACADM
Single nucleotide variant
(intron variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ACADM
(K329E +4 more)
Single nucleotide variant
(missense variant)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
+5 more
GPathogenic/Likely pathogenic
GLMN
(C36*)
Single nucleotide variant
(nonsense +1 more)
Glomuvenous malformation
+2 more
GPathogenic
ABCA4
(S2080fs)
Microsatellite
(frameshift variant)
Severe early-childhood-onset retinal dystrophy
+2 more
GPathogenic/Likely pathogenic
ABCA4
Deletion
(nonsense +1 more)
See cases
+5 more
GPathogenic
ABCA4
(G1961E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+12 more
GPathogenic/Likely pathogenic/Pathogenic, low penetrance
ABCA4, LOC126805794
(E1271G +1 more)
Single nucleotide variant
(missense variant)
Severe early-childhood-onset retinal dystrophy
+1 more
GPathogenic/Likely pathogenic
ABCA4
(R1108C +1 more)
Single nucleotide variant
(missense variant)
Age related macular degeneration 2
+6 more
GPathogenic/Likely pathogenic
ABCA4
(R290W)
Single nucleotide variant
(missense variant)
Severe early-childhood-onset retinal dystrophy
+2 more
GConflicting classifications of pathogenicity
AGL
(R864* +4 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
NOTCH2
(R29*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GConflicting classifications of pathogenicity
POGZ
(R997* +4 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(D448H +2 more)
Single nucleotide variant
(missense variant)
not specified
+9 more
GPathogenic/Likely pathogenic
GBA1, LOC106627981
(N409S +2 more)
Single nucleotide variant
(missense variant)
GBA1-related disorder
+13 more
GPathogenic/Likely pathogenic; risk factor
GBA1, LOC106627981
(H294Q +2 more)
Single nucleotide variant
(missense variant)
not specified
+7 more
GConflicting classifications of pathogenicity; other
PKLR
(G427D +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RIT1
(M90I +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
+4 more
GPathogenic/Likely pathogenic
RIT1
(F82V +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GPathogenic
LMNA
(R249W +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
LMNA
(E358K +2 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy
+4 more
GPathogenic
LMNA
(E271K +2 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to LMNA mutation
+2 more
GPathogenic/Likely pathogenic
LMNA
(R453W +2 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy
+6 more
GPathogenic/Likely pathogenic
NPHS2
(V180M)
Single nucleotide variant
(missense variant +1 more)
Nephrotic syndrome, type 2
+1 more
GPathogenic
NPHS2
(R168H)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 2
+2 more
GPathogenic/Likely pathogenic
NPHS2
(G140fs)
Deletion
(frameshift variant)
Nephrotic syndrome, type 2
+2 more
GPathogenic
CACNA1S
(R1239H)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+3 more
GConflicting classifications of pathogenicity
CACNA1S
(K88E)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+4 more
GConflicting classifications of pathogenicity
TNNT2
(R278C +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+9 more
GConflicting classifications of pathogenicity
TNNT2
(E116fs +2 more)
Deletion
(frameshift variant +1 more)
Dilated cardiomyopathy 1D
+5 more
GConflicting classifications of pathogenicity
LAMB3
Single nucleotide variant
(intron variant)
Junctional epidermolysis bullosa gravis of Herlitz
+1 more
GPathogenic
LAMB3
(L11fs)
Duplication
(frameshift variant)
Junctional epidermolysis bullosa gravis of Herlitz
+4 more
GPathogenic
USH2A
(S4830*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
USH2A
(P4818L)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+4 more
GPathogenic/Likely pathogenic
USH2A
(R4192H)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+7 more
GConflicting classifications of pathogenicity
USH2A
(W3955*)
Single nucleotide variant
(nonsense)
Hearing impairment
+10 more
GPathogenic
USH2A
(R3719H)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GPathogenic/Likely pathogenic
USH2A
(T3571M)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+7 more
GPathogenic/Likely pathogenic
USH2A
(G3142*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa
+7 more
GPathogenic/Likely pathogenic
USH2A
(C759F)
Single nucleotide variant
(missense variant)
Usher syndrome
GPathogenic
USH2A
(R303H)
Single nucleotide variant
(missense variant)
Usher syndrome
+4 more
GPathogenic/Likely pathogenic
TGFB2
(R302H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
AKT3
(V268A)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
+1 more
GConflicting classifications of pathogenicity
HNRNPU
Microsatellite
(nonsense)
not provided
+1 more
GPathogenic
MYT1L
(E224D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GAREM2, HADHA
(E510Q)
Single nucleotide variant
(missense variant)
not specified
+5 more
GPathogenic
MPV17
(P98L)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
PPP1CB
(P49R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
SPAST
(S44L)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
+5 more
GBenign/Likely benign; other; risk factor
SPAST
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 4
+1 more
GConflicting classifications of pathogenicity
SOS1
(R552G +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
SOS1
(K170E +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
GPathogenic
LRPPRC
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
FANCL
(M1T)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
NEB, RIF1
(E8100fs +1 more)
Duplication
(frameshift variant +1 more)
Arthrogryposis multiplex congenita 6
+4 more
GPathogenic/Likely pathogenic
NEB, RIF1
(R8032* +1 more)
Single nucleotide variant
(nonsense +1 more)
NEB-related disorder
+7 more
GPathogenic/Likely pathogenic
NEB
Single nucleotide variant
(intron variant +1 more)
Nemaline myopathy 2
+2 more
GConflicting classifications of pathogenicity
IFIH1
(R822Q)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 7
+2 more
GPathogenic/Likely pathogenic
SCN2A
(E1211K)
Single nucleotide variant
(missense variant)
Seizures, benign familial infantile, 3
+2 more
GPathogenic/Likely pathogenic
LOC102724058, SCN1A
(R1634* +5 more)
Single nucleotide variant
(nonsense +1 more)
Migraine, familial hemiplegic, 3
+4 more
GPathogenic
LOC102724058, SCN1A
(R1318* +5 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+4 more
GPathogenic
SCN1A
(R854* +5 more)
Single nucleotide variant
(nonsense +1 more)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GPathogenic
SCN1A
(R568* +1 more)
Single nucleotide variant
(nonsense +2 more)
Migraine, familial hemiplegic, 3
+6 more
GPathogenic
SCN1A
(R542Q +1 more)
Single nucleotide variant
(missense variant +2 more)
Severe myoclonic epilepsy in infancy
+5 more
GConflicting classifications of pathogenicity
ABCB11
Single nucleotide variant
(splice donor variant)
Progressive familial intrahepatic cholestasis type 2
+2 more
GPathogenic
LRP2
Single nucleotide variant
(intron variant)
Donnai-Barrow syndrome
+1 more
GConflicting classifications of pathogenicity
BBS5
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome
+3 more
GConflicting classifications of pathogenicity
LOC129935594, PNKD
(A9V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
BCS1L
(R83fs +2 more)
Duplication
(frameshift variant +1 more)
Mitochondrial complex III deficiency nuclear type 1
+2 more
GPathogenic/Likely pathogenic
CYP27A1
(R137Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CYP27A1
(A216P)
Single nucleotide variant
(missense variant)
CYP27A1-related disorder
+2 more
GPathogenic/Likely pathogenic
CYP27A1
(K259R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PAX3
(R223* +1 more)
Single nucleotide variant
(nonsense)
Waardenburg syndrome type 1
+2 more
GPathogenic
COL4A4
(G1465D)
Single nucleotide variant
(missense variant)
Myopia
+8 more
GConflicting classifications of pathogenicity
COL4A4
Deletion
(splice donor variant)
Autosomal recessive Alport syndrome
+2 more
GPathogenic
COL4A3, MFF-DT
(G58S)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
MFF-DT, COL4A3
Microsatellite
(inframe_deletion)
COL4A3-related disorder
+5 more
GConflicting classifications of pathogenicity
CHRNG
(R239C)
Single nucleotide variant
(missense variant)
Lethal multiple pterygium syndrome
+2 more
GPathogenic
COL6A3
(P2141H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
COL6A3
(E2067K +2 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
+2 more
GConflicting classifications of pathogenicity
HDAC4
(P248L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
AGXT
(P11R)
Single nucleotide variant
(missense variant)
Primary hyperoxaluria
+2 more
GPathogenic/Likely pathogenic
AGXT
(G170R)
Single nucleotide variant
(missense variant)
AGXT-related disorder
+3 more
GPathogenic/Likely pathogenic
AGXT
Single nucleotide variant
(intron variant)
Primary hyperoxaluria, type I
+1 more
GPathogenic/Likely pathogenic
ITPR1
(F250L)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 15/16
+1 more
GPathogenic/Likely pathogenic
ITPR1, LOC126806590
(G2539R +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
BTD
(V179M)
Single nucleotide variant
(missense variant +1 more)
BTD-related disorder
+2 more
GPathogenic/Likely pathogenic
BTD
(Q436H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
Format
Items per page
Sort by
Choose Destination