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Links from Gene

Items: 1 to 100 of 324

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GOSR2
(M119V +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
GOSR2, LRRC37A2
Single nucleotide variant
(intron variant)
not specified
GBenign
GOSR2, LRRC37A2
Single nucleotide variant
(intron variant)
not specified
GBenign
GOSR2, LRRC37A2
Single nucleotide variant
(intron variant)
not specified
GBenign
GOSR2, LRRC37A2
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GBenign
GOSR2, LOC126862578
+1 more
Microsatellite
(intron variant)
not provided
GUncertain significance
GOSR2, LOC126862578
+1 more
(N85D +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC37A2, GOSR2
Single nucleotide variant
(intron variant)
GOSR2-related disorder
GLikely benign
GOSR2, LRRC37A2
Single nucleotide variant
(synonymous variant +1 more)
GOSR2-related disorder
GBenign
GOSR2, LRRC37A2
Single nucleotide variant
(synonymous variant +1 more)
GOSR2-related disorder
GLikely benign
GOSR2, LRRC37A2
Microsatellite
(intron variant)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
Deletion
(intron variant)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
Single nucleotide variant
(intron variant)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
Single nucleotide variant
(intron variant)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
Single nucleotide variant
(intron variant)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
Single nucleotide variant
(synonymous variant +1 more)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
Single nucleotide variant
(synonymous variant +1 more)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LOC126862578
+1 more
Single nucleotide variant
(intron variant)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LOC126862578
+1 more
Single nucleotide variant
(intron variant)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LOC126862578
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LOC126862578
+1 more
(Y74fs +2 more)
Duplication
(frameshift variant +1 more)
Progressive myoclonic epilepsy
GPathogenic
GOSR2, LRRC37A2
Single nucleotide variant
(synonymous variant +1 more)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LOC126862578
+1 more
(R62fs +2 more)
Deletion
(frameshift variant +1 more)
Progressive myoclonic epilepsy
GPathogenic
GOSR2, LRRC37A2
(D2G)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
GOSR2, LRRC37A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
GOSR2, LRRC37A2
(C18F)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
GOSR2, LOC126862578
+1 more
(R100P +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GOSR2, LRRC37A2
(M1L)
Single nucleotide variant
(missense variant +3 more)
Hearing loss, autosomal recessive
GLikely pathogenic
GOSR2, LOC126862578
+1 more
(P59H +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GOSR2, LRRC37A2
(P3L)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
GOSR2, LRRC37A2
(Q144H +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GOSR2, LRRC37A2
(D2A)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
GOSR2, LRRC37A2
Indel
(nonsense +1 more)
not provided
GUncertain significance
GOSR2, LRRC37A2
(S110F +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GOSR2, LRRC37A2
Microsatellite
(nonsense +2 more)
Inborn genetic diseases
GPathogenic
GOSR2, LRRC37A2
(I147T +5 more)
Single nucleotide variant
(missense variant +1 more)
Progressive myoclonic epilepsy
GUncertain significance
GOSR2, LOC126862578
+1 more
(R101Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Progressive myoclonic epilepsy
GUncertain significance
GOSR2, LOC126862578
+1 more
Single nucleotide variant
(intron variant)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
Single nucleotide variant
(intron variant)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
(D2E)
Single nucleotide variant
(missense variant +2 more)
Progressive myoclonic epilepsy
GUncertain significance
GOSR2, LRRC37A2
(H31R +1 more)
Single nucleotide variant
(missense variant +1 more)
Progressive myoclonic epilepsy
GUncertain significance
GOSR2, LRRC37A2
(Q136fs +2 more)
Duplication
(frameshift variant +2 more)
Progressive myoclonic epilepsy
GUncertain significance
GOSR2, LOC126862578
+1 more
(Q87* +2 more)
Single nucleotide variant
(nonsense +1 more)
Progressive myoclonic epilepsy
GPathogenic
GOSR2, LRRC37A2
(M1I)
Single nucleotide variant
(missense variant +3 more)
Progressive myoclonic epilepsy
GUncertain significance
GOSR2, LRRC37A2
(S127Y +2 more)
Single nucleotide variant
(missense variant +2 more)
Progressive myoclonic epilepsy
GUncertain significance
GOSR2, LOC126862578
+1 more
(E35K +2 more)
Single nucleotide variant
(missense variant +1 more)
Progressive myoclonic epilepsy
GUncertain significance
GOSR2, LRRC37A2
(V132I +2 more)
Single nucleotide variant
(missense variant +2 more)
Progressive myoclonic epilepsy
GUncertain significance
GOSR2, LOC126862578
+1 more
(L53F +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Progressive myoclonic epilepsy
GUncertain significance
GOSR2, LRRC37A2
Single nucleotide variant
(synonymous variant +2 more)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LOC126862578
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
(N146S +2 more)
Single nucleotide variant
(missense variant +2 more)
Progressive myoclonic epilepsy
GBenign
LRRC37A2, GOSR2
+1 more
Single nucleotide variant
(intron variant)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
Single nucleotide variant
(intron variant)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
Microsatellite
(intron variant)
Progressive myoclonic epilepsy
GUncertain significance
GOSR2, LRRC37A2
(S17F)
Single nucleotide variant
(missense variant +2 more)
Progressive myoclonic epilepsy
GUncertain significance
GOSR2, LOC126862578
+1 more
Single nucleotide variant
(intron variant)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
(N109S +2 more)
Single nucleotide variant
(missense variant +2 more)
Progressive myoclonic epilepsy
GUncertain significance
GOSR2, LOC126862578
+1 more
(K56E +2 more)
Single nucleotide variant
(missense variant +1 more)
Progressive myoclonic epilepsy
GUncertain significance
GOSR2, LRRC37A2
Single nucleotide variant
(intron variant)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
Single nucleotide variant
(synonymous variant +2 more)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
(S174Y +5 more)
Single nucleotide variant
(missense variant +1 more)
Progressive myoclonic epilepsy
GUncertain significance
GOSR2, LRRC37A2
(L151P +5 more)
Single nucleotide variant
(missense variant +1 more)
Progressive myoclonic epilepsy
GUncertain significance
GOSR2, LRRC37A2
Single nucleotide variant
(5 prime UTR variant +1 more)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LOC126862578
+1 more
(I23V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GOSR2, LRRC37A2
Single nucleotide variant
(intron variant)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
Single nucleotide variant
(synonymous variant +2 more)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
(I117M +2 more)
Single nucleotide variant
(missense variant +2 more)
Progressive myoclonic epilepsy
GUncertain significance
GOSR2, LRRC37A2
(G95R +5 more)
Single nucleotide variant
(missense variant +1 more)
Progressive myoclonic epilepsy
GUncertain significance
GOSR2, LRRC37A2
Single nucleotide variant
(5 prime UTR variant +1 more)
Progressive myoclonic epilepsy
GUncertain significance
GOSR2, LOC126862578
+1 more
(I23R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GOSR2, LRRC37A2
(M161T +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GOSR2, LRRC37A2
(G118S +2 more)
Single nucleotide variant
(missense variant +2 more)
Progressive myoclonic epilepsy
+1 more
GUncertain significance
GOSR2, LRRC37A2
(R107G +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GOSR2, LRRC37A2
(Q107R +2 more)
Single nucleotide variant
(missense variant +2 more)
Progressive myoclonic epilepsy
GUncertain significance
GOSR2, LRRC37A2
Single nucleotide variant
(intron variant)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
Single nucleotide variant
(synonymous variant +1 more)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
Single nucleotide variant
(intron variant)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
Single nucleotide variant
(intron variant)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
Single nucleotide variant
(non-coding transcript variant +2 more)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
Single nucleotide variant
(intron variant)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
Single nucleotide variant
(intron variant)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
Single nucleotide variant
(synonymous variant +2 more)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
Single nucleotide variant
(5 prime UTR variant +1 more)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
Single nucleotide variant
(intron variant)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
Single nucleotide variant
(intron variant)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
Single nucleotide variant
(intron variant)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
Duplication
(intron variant)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
Single nucleotide variant
(synonymous variant +1 more)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
Single nucleotide variant
(intron variant)
Progressive myoclonic epilepsy
GLikely benign
GOSR2, LRRC37A2
(D166fs)
Deletion
(frameshift variant +1 more)
Progressive myoclonic epilepsy
GBenign
GOSR2, LRRC37A2
(R115Q +5 more)
Single nucleotide variant
(missense variant +1 more)
Progressive myoclonic epilepsy
GUncertain significance
GOSR2, LRRC37A2
(K10E)
Single nucleotide variant
(missense variant +2 more)
Progressive myoclonic epilepsy
GUncertain significance
GOSR2, LOC126862578
+1 more
(Q100K +2 more)
Single nucleotide variant
(missense variant +1 more)
Progressive myoclonic epilepsy
GUncertain significance
GOSR2, LRRC37A2
(D2N)
Single nucleotide variant
(missense variant +2 more)
Progressive myoclonic epilepsy
GUncertain significance
LOC126862578, LRRC37A2
+1 more
(E77K +2 more)
Single nucleotide variant
(missense variant +1 more)
Progressive myoclonic epilepsy
GUncertain significance
LOC126862578, GOSR2
+1 more
(D58H +2 more)
Single nucleotide variant
(missense variant +1 more)
Progressive myoclonic epilepsy
GUncertain significance
GOSR2, LRRC37A2
(R120W +5 more)
Single nucleotide variant
(missense variant +1 more)
Progressive myoclonic epilepsy
GUncertain significance
GOSR2, LOC126862578
+1 more
Single nucleotide variant
(splice acceptor variant +1 more)
Progressive myoclonic epilepsy
GLikely pathogenic
GOSR2, LOC126862578
+1 more
(R51P +2 more)
Single nucleotide variant
(missense variant +1 more)
Progressive myoclonic epilepsy
GUncertain significance
GOSR2, LRRC37A2
(M19T +1 more)
Single nucleotide variant
(missense variant +2 more)
Progressive myoclonic epilepsy
GUncertain significance
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