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Items: 1 to 100 of 208

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRDM16
(Y451H)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
+1 more
GUncertain significance
MEGF6
(C346R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM201
(R451W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF1B
(P1351L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WASF2
(R451C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FGR
(L451F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTPRF
(K1073T +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MUTYH
(L308M +12 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
ORC1
(L451V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DAB1
(G449R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP2J2
(E451K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKNAD1
(T451A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
WDR3
(T451P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPRD2
(G1351C +5 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ASH1L
(G1351E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPRC
(T453S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TP53BP2
(V322I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SIPA1L2
(S1351G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TARBP1
(L1351F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALK
(P283H +1 more)
Single nucleotide variant
(missense variant)
Neuroblastoma, susceptibility to, 3
+1 more
GUncertain significance
MSH2
(Q451* +1 more)
Single nucleotide variant
(nonsense)
Lynch syndrome 1
+2 more
GPathogenic
MSH6
(F451L +2 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GUncertain significance
MSH6
(H1351Y +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
EXOC6B
(S338P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NCAPH
(R315C +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TMEM131
(I1351V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCKAP5
(P451S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RFTN2
(R451C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FZD7
(R451C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INO80D
(V451M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FN1
(T1351I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SLC16A14
(I451V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANO7
(R397C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THUMPD3
(F451L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FGD5
(P1351T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DLEC1
(T1354S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCN5A
(M1350I +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CDHR4
(R451W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HYAL2
(E451K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FEZF2
(K451E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROBO1
(L1351F +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ROBO1
(D415N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IMPG2
(S451P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MORC1
(F451V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POLQ
(A1351S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EEFSEC
(L451F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC9A9
(R451W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LSG1
(A451T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PI4K2B
(R451C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC158
(A451T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCSER1
(R451C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRDM5
(V451I +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
GATB
(L451F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAT1
(P1351L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SDHA
(R451C +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
CDC25C
(S468G +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTNNA1
(R451* +3 more)
Single nucleotide variant
(nonsense +2 more)
Hereditary diffuse gastric adenocarcinoma
+3 more
GConflicting classifications of pathogenicity
ITK
(R451W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
EBF1
(S310P +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM41
(R451W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SCAND3
(S300R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATF6B
(V448I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PNPLA1
(P451T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FGD2
(R451W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TUBE1
(I451V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LAMA4
(S1351L +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
SHPRH
(A870T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID1B
(S393P +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FNDC1
(P1351S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC1
(P1351L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPS6KA2
(V345M +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
INTS1
(D1351N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BRAT1
(A451S +1 more)
Single nucleotide variant
(missense variant +1 more)
Neonatal-onset encephalopathy with rigidity and seizures
+1 more
GUncertain significance
CRPPA
(A416S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDCA7L
(V405L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLI3
(T1351N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYO1G
(A451T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TECPR1
(G451S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KPNA7
(C451R)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
EPHB4
(S451R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CFTR
(K1351N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
POT1
(C320R +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
EPHB6
(R452W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF746
(G450S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RP1L1
(E1351G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PDLIM2
(R201C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP6V1H
(N433D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DPYS
(G451R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
JRK
(R451W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPPK1
(E1351K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRD10
(T1351P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MPDZ
(T451A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SLC24A2
(A434T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALDH1B1
(R451W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTCH1
(N1200S +4 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
+1 more
GUncertain significance
PTCH1
(A385T +3 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
HEMGN
(F451L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK5RAP2
(P1121L +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DENND1A
(Q420K +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ENG
(W14R +1 more)
Single nucleotide variant
(missense variant)
Hereditary hemorrhagic telangiectasia
+1 more
GPathogenic/Likely pathogenic
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