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Items: 1 to 100 of 3463

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARL8B, ARPC4
+406 more
Copy number gain
See cases
GPathogenic
ARL8B, ARPC4
+331 more
Copy number loss
See cases
GPathogenic
ANKRD28, ARL8B
+799 more
Copy number gain
See cases
GPathogenic
LOC129936198, LOC129936199
+647 more
Copy number gain
See cases
GPathogenic
LOC129936421, LOC129936422
+962 more
Copy number gain
See cases
GPathogenic
ACAA1, ACVR2B
+1111 more
Copy number gain
See cases
GPathogenic
LOC110120630, LOC111429626
+608 more
Copy number gain
See cases
GPathogenic
ARPC4, ARPC4-TTLL3
+307 more
Copy number gain
See cases
GPathogenic
ARPC4, ARPC4-TTLL3
+190 more
Copy number gain
See cases
GLikely pathogenic
LOC132088948, LOC132088950
+730 more
Copy number gain
See cases
GPathogenic
CAND2, IQSEC1
+42 more
Copy number gain
See cases
GUncertain significance
MKRN2, RAF1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MKRN2, RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
LEOPARD syndrome 2
+1 more
GUncertain significance
MKRN2, RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
LEOPARD syndrome 2
+1 more
GUncertain significance
RAF1
Microsatellite
(3 prime UTR variant +1 more)
Noonan syndrome
+1 more
GUncertain significance
RAF1
Microsatellite
(3 prime UTR variant +1 more)
Noonan syndrome
+1 more
GUncertain significance
RAF1
Duplication
(3 prime UTR variant +1 more)
not provided
GLikely benign
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome 5
+1 more
GUncertain significance
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome 5
+1 more
GUncertain significance
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1NN
+2 more
GUncertain significance
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
LEOPARD syndrome 2
+1 more
GUncertain significance
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
LEOPARD syndrome 2
+1 more
GUncertain significance
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
LEOPARD syndrome 2
+1 more
GUncertain significance
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
LEOPARD syndrome 2
+1 more
GUncertain significance
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome 5
+1 more
GBenign/Likely benign
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome 5
+1 more
GBenign/Likely benign
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome 5
+1 more
GBenign/Likely benign
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome 5
+1 more
GUncertain significance
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome 5
+1 more
GBenign/Likely benign
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome 5
+2 more
GBenign/Likely benign
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GBenign
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
LEOPARD syndrome 2
+1 more
GUncertain significance
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Noonan syndrome 5
+1 more
GBenign/Likely benign
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
LEOPARD syndrome 2
+1 more
GUncertain significance
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
LEOPARD syndrome 2
+1 more
GUncertain significance
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
LEOPARD syndrome 2
+2 more
GBenign/Likely benign
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GBenign
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
LEOPARD syndrome 2
+1 more
GUncertain significance
LOC129389024, RAF1
Duplication
RASopathy
GUncertain significance
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GLikely benign
RAF1
Single nucleotide variant
(stop lost +1 more)
not provided
GUncertain significance
RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
+1 more
GLikely benign
RAF1
(F567S +5 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
MKRN2, RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GBenign
RAF1
(V647I +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
RAF1
(P646S +5 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+1 more
GUncertain significance
RAF1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
+1 more
GLikely benign
RAF1
(P582L +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
RAF1
(P643S +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
+1 more
GLikely benign
RAF1
(T527R +5 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome 5
+1 more
GUncertain significance
RAF1
(T641M +5 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+3 more
GConflicting classifications of pathogenicity
RAF1
(T527A +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
RAF1
Deletion
(inframe_indel +1 more)
not specified
GUncertain significance
RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
+2 more
GLikely benign
RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GBenign
RAF1
(T638M +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
RAF1
(T658S +5 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
RAF1
(C523Y +5 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
RAF1
(A522V +5 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
RAF1
(N635S +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
RAF1
(I601T +5 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+2 more
GUncertain significance
RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
RAF1
(D519G +5 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
RAF1
(D519N +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RAF1
(E551D +5 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
RAF1
(E599K +5 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
RAF1
(T631A +5 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
RAF1
(H569R +5 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
RAF1
(A515G +5 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
RAF1
(A515S +5 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
RAF1
(R513P +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
RAF1
(R627Q +5 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+2 more
GUncertain significance
RAF1
(R627W +5 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+3 more
GUncertain significance
RAF1
(H512fs +5 more)
Insertion
(frameshift variant +1 more)
not provided
GUncertain significance
RAF1
(H626R +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
RAF1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
RAF1
(S624C +5 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+1 more
GConflicting classifications of pathogenicity
RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
RAF1
(P623S +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
RAF1
(E642K +5 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
RAF1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
+1 more
GLikely benign
RAF1
(A587T +5 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
+1 more
GLikely benign
RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
RAF1
(R557Q +5 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
RAF1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
RAF1
(R537W +5 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significance
RAF1
(N556T +5 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome 5
GUncertain significance
RAF1
(N536I +5 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
RAF1
(N503S +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GLikely benign
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