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 1034

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129388541, LOC129388542
+570 more
Copy number gain
See cases
GPathogenic
LOC129930848, LOC129930849
+558 more
Copy number loss
See cases
GPathogenic
LOC126805749, LOC126805750
+331 more
Copy number loss
See cases
GPathogenic
AK4, ANKRD13C
+210 more
Copy number gain
See cases
GPathogenic
LOC129930731, LOC129930732
+165 more
Copy number loss
See cases
GPathogenic
ACADM, AK5
+188 more
Duplication
not specified
GUncertain significance
FPGT-TNNI3K, TNNI3K
(M1V)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
(M1K)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TNNI3K, FPGT-TNNI3K
(Y4fs)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
FPGT-TNNI3K, TNNI3K
(P8S)
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
(P8Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
FPGT-TNNI3K, TNNI3K
(Q10K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
Deletion
(intron variant +1 more)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
(C12Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
(T13A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(intron variant)
not provided
GBenign
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(intron variant)
not provided
GBenign
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FPGT-TNNI3K, TNNI3K
Duplication
(intron variant)
not provided
GLikely benign
FPGT-TNNI3K, TNNI3K
(D115G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
(D14E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
(E15K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
(K120N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
(S21fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
(I26V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
(I26T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FPGT-TNNI3K, TNNI3K
(E29K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
(R131I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FPGT-TNNI3K, TNNI3K
(Q137* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
(E41* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
(L143R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FPGT-TNNI3K, TNNI3K
(T144A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
(E145D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TNNI3K, FPGT-TNNI3K
(R147G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FPGT-TNNI3K, TNNI3K
(I149V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FPGT-TNNI3K, TNNI3K
Deletion
(intron variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FPGT-TNNI3K, TNNI3K
Microsatellite
(intron variant)
not provided
GLikely benign
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(intron variant)
not provided
GBenign
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
(S51F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
(D153E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
(S56fs +1 more)
Insertion
(frameshift variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
(F55C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
FPGT-TNNI3K, TNNI3K
(F55L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
(S56C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TNNI3K, FPGT-TNNI3K
(K57N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FPGT-TNNI3K, TNNI3K
(V159L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
(N160D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
FPGT-TNNI3K, TNNI3K
(N160S +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
FPGT-TNNI3K, TNNI3K
(N61S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
(Y62* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
(R164C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TNNI3K, FPGT-TNNI3K
(R164H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FPGT-TNNI3K, TNNI3K
(E166* +1 more)
Single nucleotide variant
(nonsense)
Atrial conduction disease
+1 more
GBenign/Likely benign
FPGT-TNNI3K, TNNI3K
(E65D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
Insertion
(inframe_insertion)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
(S170fs +1 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
(G168E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
(S170fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FPGT-TNNI3K, TNNI3K
(S170T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
(L172fs +1 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
(L71F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
(C75F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
(G179fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
(G79S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
Deletion
(splice donor variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(intron variant)
not provided
GBenign
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FPGT-TNNI3K, TNNI3K
Deletion
(intron variant)
not provided
GLikely benign
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
FPGT-TNNI3K, TNNI3K
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
Format
Items per page
Sort by
Choose Destination