U.S. flag

An official website of the United States government

Display optionsSort by LocationDownload
Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 120

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A3GALT2, ACOT11
+1226 more
Inversion
Bilateral polymicrogyria
GLikely pathogenic
ARTN, ATP6V0B
+279 more
Copy number loss
See cases
GPathogenic
ARTN, ATP6V0B
+253 more
Copy number loss
See cases
GPathogenic
C1orf210, C1orf50
+91 more
Copy number loss
Epilepsy syndrome
GPathogenic
TIE1
(R4Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
TIE1
(P7A)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
TIE1
(T26A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TIE1
(R38L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TIE1
(V70M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(T72N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(G30R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(H41L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(G92S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(F48C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(G108S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(T114A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(I72T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(V132F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(S100C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(K107R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(D110H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TIE1
(L168V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(D175V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(R132W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(R132Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(S144L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(G191S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(A206T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(R209W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(R168W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(R213Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TIE1
(R174C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TIE1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TIE1
(E198K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(R254C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(R234W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(R279Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(P263S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(R271Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(T321M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(P323T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(R324W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(L395F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(E412K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(S376C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(G433R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(R392W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(R392Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(V396I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(V398M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(V403M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(P467L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(R436C +1 more)
Single nucleotide variant
(missense variant)
Lymphatic malformation 11
GPathogenic
TIE1
(L437P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(V459M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(G469R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(R518C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(R518H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(W487L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(G558S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(R518Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(D533N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TIE1
(R593W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(A560V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(L607V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(H615R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(V637M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(P640S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(R603Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(A607T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(T618I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(P622L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(E668D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TIE1
(G641V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(I704V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(R661C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(A665T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TIE1
(R674W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(P701S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(R751W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(A753T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TIE1
(R795C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(R795L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(G759D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(R775Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(V788M +1 more)
Single nucleotide variant
(missense variant)
TIE1-related disorder
GLikely benign
TIE1
(D843N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(I854S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(M812V +1 more)
Single nucleotide variant
(missense variant)
TIE1-related disorder
GUncertain significance
TIE1
(K859N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(A840V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(R865Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(R933Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIE1
(R943Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
Display optionsSort by LocationDownload
Format
Items per page
Sort by
Choose Destination