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Items: 1 to 100 of 827

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DVL1
(S575N +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
GNB1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
CHD5
Deletion
(intron variant)
See cases
GUncertain significance
CHD5
(R240L)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
RERE
(S1143W +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
MTOR
(S1863L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MTHFR
(P346R +2 more)
Single nucleotide variant
(missense variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
+2 more
GUncertain significance
MTHFR
(A222V +1 more)
Single nucleotide variant
(missense variant)
methotrexate response - Toxicity
Gdrug response
CLCN6
(R479H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
VPS13D
(L66F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SPEN
(R871C)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
SPEN
(M1911T)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
PAX7
(P112L)
Single nucleotide variant
(missense variant)
See cases
+1 more
GUncertain significance
ALPL
(Q32*)
Single nucleotide variant
(nonsense +1 more)
Hypophosphatasia
+3 more
GPathogenic/Likely pathogenic
ALPL
(E191K +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+8 more
GPathogenic/Likely pathogenic
KDM1A
(R726Q +2 more)
Single nucleotide variant
(missense variant)
See cases
+1 more
GUncertain significance
LDLRAP1
Single nucleotide variant
(splice acceptor variant)
See cases
+1 more
GPathogenic/Likely pathogenic
SELENON
(R291Q +1 more)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
+3 more
GPathogenic/Likely pathogenic
SELENON
(G371D +1 more)
Single nucleotide variant
(missense variant)
See cases
+3 more
GConflicting classifications of pathogenicity
TRIM63
(S161fs)
Microsatellite
(frameshift variant)
Inborn genetic diseases
+2 more
GPathogenic
AHDC1
(R590W)
Single nucleotide variant
(missense variant)
See cases
GLikely benign
RRAGC
(W115R +1 more)
Single nucleotide variant
(missense variant)
See cases
GLikely pathogenic
MACF1
(R1196Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MACF1
(P5017L +1 more)
Single nucleotide variant
(missense variant)
See cases
+2 more
GConflicting classifications of pathogenicity
PPT1
(V181L +1 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+3 more
GPathogenic/Likely pathogenic
SZT2
(A938T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SZT2
(R2022Q +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
MUTYH
(L316H +7 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
+2 more
GUncertain significance
MMACHC
(R91fs +1 more)
Duplication
(frameshift variant)
Methylmalonic aciduria and homocystinuria
+6 more
GPathogenic
CPT2
(D376G)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
CPT2
(S567N +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, severe infantile form
+5 more
GUncertain significance
PCSK9
(R496W +6 more)
Single nucleotide variant
(missense variant)
Hypobetalipoproteinemia
+7 more
GConflicting classifications of pathogenicity
ACADM
(K108* +3 more)
Single nucleotide variant
(nonsense +1 more)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
+2 more
GPathogenic/Likely pathogenic
ACADM
(M326T +4 more)
Single nucleotide variant
(missense variant)
See cases
+1 more
GPathogenic/Likely pathogenic
ACADM
(K329E +4 more)
Single nucleotide variant
(missense variant)
Epileptic spasm
+4 more
GPathogenic/Likely pathogenic
ABCA4
Deletion
(nonsense +1 more)
Retinitis pigmentosa 19
+5 more
GPathogenic
ABCA4
(G1961E +1 more)
Single nucleotide variant
(missense variant)
Age related macular degeneration 2
+12 more
GPathogenic/Likely pathogenic/Pathogenic, low penetrance
ABCA4
(C1490Y +1 more)
Single nucleotide variant
(missense variant)
Age related macular degeneration 2
+7 more
GPathogenic
ABCA4
(L1356P +1 more)
Single nucleotide variant
(missense variant)
See cases
+1 more
GPathogenic/Likely pathogenic
ABCA4
Single nucleotide variant
(splice donor variant)
See cases
+4 more
GPathogenic
ALG14, ALG14-AS1
(D74N)
Single nucleotide variant
(missense variant)
See cases
+4 more
GConflicting classifications of pathogenicity
ALG14, LOC129930989
(S45P)
Single nucleotide variant
(missense variant +1 more)
See cases
GUncertain significance
NRAS
(G138R)
Single nucleotide variant
(missense variant)
See cases
+1 more
GUncertain significance
CSDE1
(L217fs +3 more)
Duplication
(frameshift variant)
See cases
GUncertain significance
NOTCH2
(R2060H)
Single nucleotide variant
(missense variant)
See cases
+2 more
GUncertain significance
POGZ
(A1150S +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GATAD2B
(S400fs)
Microsatellite
(frameshift variant)
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
+2 more
GPathogenic/Likely pathogenic
GATAD2B
(R162W)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
ASH1L
(R2841H +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
ASH1L, MIR555
(P2625T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
LMNA
(R331Q +2 more)
Single nucleotide variant
(missense variant)
Primary familial dilated cardiomyopathy
+8 more
GPathogenic/Likely pathogenic
ATP1A2
(A318E)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
+1 more
GUncertain significance
COPA
(T555A +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
TBX19
(T203M)
Single nucleotide variant
(missense variant)
See cases
GLikely pathogenic
KLHL20
(G357R)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder
+3 more
GConflicting classifications of pathogenicity
DARS2
(C152F)
Single nucleotide variant
(missense variant)
See cases
+2 more
GPathogenic
SERPINC1
(V391A +6 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
SERPINC1
(I143V +2 more)
Single nucleotide variant
(missense variant +1 more)
See cases
GUncertain significance
NPHS2
(R138Q)
Single nucleotide variant
(missense variant)
See cases
+3 more
GPathogenic/Likely pathogenic
CACNA1E
Deletion
(inframe_deletion)
See cases
+1 more
GConflicting classifications of pathogenicity
CACNA1E
(R1134C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
KCNT2
(A187D)
Single nucleotide variant
(missense variant +1 more)
See cases
GLikely pathogenic
ASPM
(R3064* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
TNNT2
(R203Q +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
FLVCR1
(Y398*)
Duplication
(nonsense)
See cases
GPathogenic
USH2A
(W3955*)
Single nucleotide variant
(nonsense)
not provided
+10 more
GPathogenic
USH2A
(W3521R)
Single nucleotide variant
(missense variant)
Usher syndrome
+6 more
GPathogenic/Likely pathogenic
USH2A
(C3090*)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic
USH2A
(N2651fs)
Duplication
(frameshift variant)
See cases
+3 more
GPathogenic/Likely pathogenic
USH2A-AS1, USH2A
(Q1244*)
Single nucleotide variant
(nonsense)
See cases
+2 more
GPathogenic
GJC2
(M286T)
Single nucleotide variant
(missense variant)
See cases
GPathogenic
FH
(R233H)
Single nucleotide variant
(missense variant)
See cases
+5 more
GPathogenic
HNRNPU
(E625* +1 more)
Single nucleotide variant
(nonsense)
See cases
GLikely pathogenic
NLRP3
(E567G +1 more)
Single nucleotide variant
(missense variant)
See cases
GLikely pathogenic
MYT1L
(Q1065L +1 more)
Single nucleotide variant
(missense variant)
See cases
+1 more
GUncertain significance
MYT1L
(P868S +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
KIDINS220
(L491W +2 more)
Single nucleotide variant
(missense variant +1 more)
See cases
GUncertain significance
APOB
(R3527Q)
Single nucleotide variant
(missense variant)
See cases
+9 more
GPathogenic/Likely pathogenic
APOB
(E2566K)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+6 more
GConflicting classifications of pathogenicity
APOB
(P1143S)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
+7 more
GConflicting classifications of pathogenicity
DNMT3A
(D306N +3 more)
Single nucleotide variant
(missense variant +1 more)
See cases
GLikely pathogenic
SRD5A2
(Y235F)
Single nucleotide variant
(missense variant)
See cases
+1 more
GPathogenic
SOS1
(Q970R +1 more)
Single nucleotide variant
(missense variant)
See cases
+2 more
GUncertain significance
SOS1
(R552S +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
SOS1
(S543P +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
+6 more
GUncertain significance
SOS1
(P478R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SOS1
(I94T +1 more)
Single nucleotide variant
(missense variant)
Fibromatosis, gingival, 1
+3 more
GUncertain significance
TTC7A
(A204fs +2 more)
Duplication
(frameshift variant)
See cases
GPathogenic
TTC7A
Duplication
(splice donor variant)
See cases
GPathogenic
MSH6
Single nucleotide variant
(intron variant)
not specified
+6 more
GConflicting classifications of pathogenicity
FBXO11
(P229S +1 more)
Single nucleotide variant
(missense variant)
See cases
GLikely benign
LHCGR, STON1-GTF2A1L
(L16Q)
Single nucleotide variant
(missense variant +1 more)
See cases
GUncertain significance
SPTBN1
(A217T +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
SPTBN1
(H1812R +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
TET3
(R401C +2 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
AFF3
(Q139fs +1 more)
Deletion
(frameshift variant)
See cases
GLikely pathogenic
RANBP2
(T585M)
Single nucleotide variant
(missense variant)
See cases
+2 more
GPathogenic/Likely pathogenic
HS6ST1
Single nucleotide variant
(synonymous variant)
See cases
GUncertain significance
ZEB2
(R921* +1 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+4 more
GPathogenic
ZEB2
(C310S +1 more)
Single nucleotide variant
(missense variant)
See cases
GLikely pathogenic
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