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Links from MedGen

Items: 1 to 100 of 388

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPATA7
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
Single nucleotide variant
(synonymous variant)
SPATA7-related disorder
+1 more
GLikely benign
SPATA7
Single nucleotide variant
(splice donor variant)
Leber congenital amaurosis 3
GLikely pathogenic
SPATA7
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
(M376fs +1 more)
Deletion
(frameshift variant)
Leber congenital amaurosis 3
GPathogenic
SPATA7
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
(R409H +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
+1 more
GUncertain significance
SPATA7
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
Deletion
Leber congenital amaurosis 3
GPathogenic
SPATA7
Duplication
Leber congenital amaurosis 3
GUncertain significance
EML5, GALC
+6 more
Duplication
Leber congenital amaurosis 3
GUncertain significance
SPATA7
(K282E +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
(D418N +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
(I541V +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
(F220L +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
(K49R)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
(T247I +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
(D224Y +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
(N31D)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
(V572D +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
(N422D +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
Single nucleotide variant
(synonymous variant +1 more)
Leber congenital amaurosis 3
GLikely benign
SPATA7
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
(K124R +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
(P14R)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
(L129fs +1 more)
Deletion
(frameshift variant)
Leber congenital amaurosis 3
GPathogenic
SPATA7
(P353S +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
(N545S +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
Microsatellite
(nonsense)
Leber congenital amaurosis 3
GPathogenic
SPATA7
(Q399H +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
(E364* +1 more)
Single nucleotide variant
(nonsense)
Leber congenital amaurosis 3
GPathogenic
SPATA7
(S30N)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
Deletion
(intron variant)
Leber congenital amaurosis 3
GBenign
SPATA7
(P221S +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
(K411E +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
Duplication
(intron variant)
Leber congenital amaurosis 3
GBenign
SPATA7
(K137E +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
Deletion
(intron variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
(E490K +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
(K265R +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
(D280G +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
(P321A +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
+1 more
GUncertain significance
SPATA7
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
Deletion
(splice donor variant)
Leber congenital amaurosis 3
GLikely pathogenic
SPATA7
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
(T257fs +1 more)
Deletion
(frameshift variant)
Leber congenital amaurosis 3
GPathogenic
SPATA7
(T121A +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
(P190S +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
(V151I +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
(A412T +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
(T487A +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
Single nucleotide variant
(splice donor variant)
Leber congenital amaurosis 3
GLikely pathogenic
SPATA7
(R41S)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
(D102N +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
(L57F +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
(G511S +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
(I495M +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
(K231R +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
(S195fs +1 more)
Duplication
(frameshift variant)
Leber congenital amaurosis 3
GPathogenic
SPATA7
(T44S +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
(V550fs +1 more)
Deletion
(frameshift variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
(K541N +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
(Y16C)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
(K271T +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
(T28A)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
LOC130056226, SPATA7
(D2H)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
(L524V +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
Single nucleotide variant
(synonymous variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 3
GLikely benign
SPATA7
(I509N +1 more)
Single nucleotide variant
(missense variant)
Leber congenital amaurosis 3
GUncertain significance
SPATA7
Single nucleotide variant
(intron variant)
Leber congenital amaurosis 3
GUncertain significance
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