U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 363

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STRADA
Single nucleotide variant
(3 prime UTR variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
LOC125312417, STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(synonymous variant +2 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(intron variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(3 prime UTR variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(3 prime UTR variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Microsatellite
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(synonymous variant +3 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(synonymous variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(synonymous variant +3 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(synonymous variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(synonymous variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
(S282R +5 more)
Single nucleotide variant
(missense variant +2 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GUncertain significance
STRADA
(P327A +4 more)
Single nucleotide variant
(missense variant +3 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GUncertain significance
STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
LOC125312417, STRADA
Single nucleotide variant
(synonymous variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
LOC125312417, STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
(Q222* +5 more)
Single nucleotide variant
(nonsense +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GPathogenic
STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(synonymous variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(3 prime UTR variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(intron variant +2 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
LOC125312417, STRADA
Single nucleotide variant
(synonymous variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(synonymous variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
(W215S)
Single nucleotide variant
(synonymous variant +2 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA, LOC125312417
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
(W334*)
Single nucleotide variant
(3 prime UTR variant +2 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
(Y152* +5 more)
Single nucleotide variant
(nonsense +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GPathogenic
STRADA
Single nucleotide variant
(synonymous variant +2 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Insertion
(3 prime UTR variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
LOC125312417, STRADA
Single nucleotide variant
(synonymous variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
(F16fs +3 more)
Deletion
(frameshift variant +3 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GPathogenic
STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
(P34fs +1 more)
Deletion
(frameshift variant +2 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GPathogenic
STRADA
(G250S +5 more)
Single nucleotide variant
(missense variant +2 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
+1 more
GUncertain significance
STRADA
(D428N +4 more)
Single nucleotide variant
(missense variant +2 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GUncertain significance
STRADA
(M275I +5 more)
Single nucleotide variant
(missense variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GUncertain significance
STRADA
Single nucleotide variant
(synonymous variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
(R289*)
Single nucleotide variant
(synonymous variant +3 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GUncertain significance
STRADA
(I356V +4 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GUncertain significance
STRADA
Single nucleotide variant
(synonymous variant +3 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(synonymous variant +2 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
(P332L)
Single nucleotide variant
(missense variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GUncertain significance
STRADA
Single nucleotide variant
(3 prime UTR variant +2 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
(D103E +5 more)
Single nucleotide variant
(missense variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GUncertain significance
STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
LOC125312417, STRADA
Single nucleotide variant
(synonymous variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
(K33E +5 more)
Single nucleotide variant
(missense variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GUncertain significance
STRADA
(P306fs +4 more)
Deletion
(frameshift variant +2 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GUncertain significance
STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Deletion
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(synonymous variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
(A30V +5 more)
Single nucleotide variant
(missense variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GUncertain significance
STRADA
Single nucleotide variant
(5 prime UTR variant +3 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(synonymous variant +2 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
(G293S +5 more)
Single nucleotide variant
(missense variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GUncertain significance
LOC125312417, STRADA
Single nucleotide variant
(synonymous variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
LOC125312417, STRADA
(H118R +5 more)
Single nucleotide variant
(missense variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GUncertain significance
LOC125312417, STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GUncertain significance
STRADA
(S93C +5 more)
Single nucleotide variant
(missense variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GUncertain significance
STRADA
Single nucleotide variant
(synonymous variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
(Y32* +4 more)
Single nucleotide variant
(nonsense +2 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GPathogenic
STRADA
Single nucleotide variant
(synonymous variant +2 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
LOC125312417, STRADA
(I128V +5 more)
Single nucleotide variant
(missense variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GUncertain significance
STRADA
(M238T +6 more)
Single nucleotide variant
(missense variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GUncertain significance
STRADA
(P356L +4 more)
Single nucleotide variant
(missense variant +2 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GUncertain significance
STRADA
(S291A +4 more)
Single nucleotide variant
(missense variant +2 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GUncertain significance
LOC125312417, STRADA
Single nucleotide variant
(splice acceptor variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely pathogenic
STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
Single nucleotide variant
(synonymous variant +2 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
(H223P +5 more)
Single nucleotide variant
(missense variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GUncertain significance
STRADA
Deletion
(inframe_deletion +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GUncertain significance
STRADA
(N100S +5 more)
Single nucleotide variant
(missense variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GUncertain significance
STRADA
(V41M +5 more)
Single nucleotide variant
(missense variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GUncertain significance
STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
STRADA
(S313C +5 more)
Single nucleotide variant
(missense variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GUncertain significance
LOC125312417, STRADA
(M120T +5 more)
Single nucleotide variant
(missense variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GUncertain significance
STRADA
(N126S +5 more)
Single nucleotide variant
(missense variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GUncertain significance
STRADA
Single nucleotide variant
(intron variant)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GLikely benign
Format
Items per page
Sort by
Choose Destination