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Links from MedGen

Items: 80

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GUCA1A, GUCA1ANB-GUCA1A
(T62P)
Single nucleotide variant
(missense variant)
Cone dystrophy 3
GUncertain significance
GUCA1A, GUCA1ANB-GUCA1A
(Q41H)
Single nucleotide variant
(missense variant)
Cone dystrophy 3
GUncertain significance
GUCA1A, GUCA1ANB-GUCA1A
(E155D)
Single nucleotide variant
(missense variant)
Cone dystrophy 3
+1 more
GConflicting classifications of pathogenicity
GUCA1A, GUCA1ANB-GUCA1A
(D144V)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+1 more
GConflicting classifications of pathogenicity
LOC118142757, GUCA1A
(E111D)
Single nucleotide variant
(missense variant)
Cone dystrophy 3
GLikely pathogenic
GUCA1A, LOC118142757
(G86R)
Single nucleotide variant
(missense variant)
Cone dystrophy 3
GLikely pathogenic
GUCA1A, GUCA1ANB-GUCA1A
(N104K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GUCA1A, LOC118142757
(D148E)
Single nucleotide variant
(missense variant)
Cone dystrophy 3
GUncertain significance
GUCA1A, LOC118142757
(L80I)
Single nucleotide variant
(missense variant)
Cone dystrophy 3
GUncertain significance
GUCA1A, GUCA1ANB-GUCA1A
(E155G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GUCA1A, LOC118142757
(D144G)
Single nucleotide variant
(missense variant)
Cone dystrophy 3
GLikely pathogenic
GUCA1A, GUCA1ANB-GUCA1A
(D100E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GUCA1A, LOC118142757
(D68E)
Single nucleotide variant
(missense variant)
Cone dystrophy 3
GUncertain significance
GUCA1A, LOC118142757
(Y99S)
Single nucleotide variant
(missense variant)
Cone dystrophy 3
GLikely pathogenic
GUCA1A, LOC118142757
(Y99N)
Single nucleotide variant
(missense variant)
Cone dystrophy 3
GLikely pathogenic
GUCA1A, GUCA1ANB-GUCA1A
(E111V)
Single nucleotide variant
(missense variant)
Cone dystrophy 3
+1 more
GPathogenic/Likely pathogenic
GUCA1A, GUCA1ANB-GUCA1A
Single nucleotide variant
(3 prime UTR variant)
Cone dystrophy 3
GUncertain significance
GUCA1A, GUCA1ANB-GUCA1A
Single nucleotide variant
(3 prime UTR variant)
Cone dystrophy 3
GUncertain significance
GUCA1A, GUCA1ANB-GUCA1A
Single nucleotide variant
(3 prime UTR variant)
Cone dystrophy 3
GUncertain significance
GUCA1A, GUCA1ANB-GUCA1A
Single nucleotide variant
(3 prime UTR variant)
Cone dystrophy 3
GUncertain significance
GUCA1A, GUCA1ANB-GUCA1A
Single nucleotide variant
(3 prime UTR variant)
Cone dystrophy 3
GUncertain significance
GUCA1A, GUCA1ANB-GUCA1A
(Q184R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GUCA1A, GUCA1ANB-GUCA1A
Single nucleotide variant
(intron variant)
Cone dystrophy 3
+1 more
GConflicting classifications of pathogenicity
GUCA1A, GUCA1ANB-GUCA1A
Single nucleotide variant
(5 prime UTR variant)
Cone dystrophy 3
GUncertain significance
GUCA1A, GUCA1ANB
+1 more
(R47Q +1 more)
Single nucleotide variant
Cone dystrophy 3
GUncertain significance
GUCA1A, GUCA1ANB-GUCA1A
Single nucleotide variant
(3 prime UTR variant)
Cone dystrophy 3
GUncertain significance
GUCA1A, GUCA1ANB-GUCA1A
Single nucleotide variant
(3 prime UTR variant)
Cone dystrophy 3
GUncertain significance
CIMIP3, GUCA1A
+1 more
(R45Q +1 more)
Single nucleotide variant
Cone dystrophy 3
GUncertain significance
CIMIP3, GUCA1A
+1 more
Single nucleotide variant
Cone dystrophy 3
GUncertain significance
CIMIP3, GUCA1A
+1 more
(G16S)
Single nucleotide variant
Cone dystrophy 3
GUncertain significance
CIMIP3, GUCA1A
+1 more
Single nucleotide variant
Cone dystrophy 3
GUncertain significance
GUCA1ANB-GUCA1A, GUCA1B
+1 more
(D100G)
Single nucleotide variant
(missense variant)
Cone dystrophy 3
+2 more
GPathogenic/Likely pathogenic
GUCA1A, GUCA1ANB-GUCA1A
(S152C)
Single nucleotide variant
(missense variant)
Cone dystrophy 3
+1 more
GUncertain significance
GUCA1A, GUCA1ANB-GUCA1A
(E190Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GUCA1A, GUCA1ANB-GUCA1A
Deletion
(inframe_deletion)
Cone dystrophy 3
GUncertain significance
GUCA1A, GUCA1ANB-GUCA1A
(R120L)
Single nucleotide variant
(missense variant)
Cone dystrophy 3
+2 more
GPathogenic/Likely pathogenic
RHO
(R252P)
Single nucleotide variant
(missense variant)
Cone dystrophy 3
+1 more
GUncertain significance
GUCA1A, LOC118142757
(R120L)
Indel
(missense variant)
Cone dystrophy 3
GPathogenic
GUCA1A, GUCA1ANB-GUCA1A
+1 more
Single nucleotide variant
(3 prime UTR variant)
Retinitis Pigmentosa, Dominant
+1 more
GLikely benign
GUCA1A, GUCA1ANB-GUCA1A
+1 more
Single nucleotide variant
(3 prime UTR variant)
Retinitis Pigmentosa, Dominant
+1 more
GConflicting classifications of pathogenicity
GUCA1A, GUCA1ANB-GUCA1A
Single nucleotide variant
(3 prime UTR variant)
Cone dystrophy 3
GLikely benign
GUCA1A, GUCA1ANB-GUCA1A
Single nucleotide variant
(3 prime UTR variant)
Cone dystrophy 3
GUncertain significance
GUCA1B, GUCA1A
+1 more
Single nucleotide variant
(3 prime UTR variant)
Retinitis Pigmentosa, Dominant
+2 more
GBenign/Likely benign
GUCA1A, GUCA1ANB-GUCA1A
+1 more
Single nucleotide variant
(3 prime UTR variant)
Retinitis Pigmentosa, Dominant
+2 more
GLikely benign
GUCA1A, GUCA1ANB-GUCA1A
+1 more
Single nucleotide variant
(3 prime UTR variant)
Retinitis Pigmentosa, Dominant
+2 more
GLikely benign
GUCA1A, GUCA1ANB-GUCA1A
Single nucleotide variant
(3 prime UTR variant)
Cone dystrophy 3
GLikely benign
GUCA1A, GUCA1ANB-GUCA1A
+1 more
Single nucleotide variant
(3 prime UTR variant)
Retinitis Pigmentosa, Dominant
+3 more
GLikely benign
GUCA1A, GUCA1ANB-GUCA1A
(V4M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GUCA1A, GUCA1ANB-GUCA1A
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
GUCA1A, GUCA1ANB-GUCA1A
Single nucleotide variant
(5 prime UTR variant)
Cone dystrophy 3
GBenign
GUCA1A, GUCA1ANB-GUCA1A
Single nucleotide variant
(5 prime UTR variant)
Cone dystrophy 3
GUncertain significance
GUCA1A, GUCA1ANB
+1 more
Single nucleotide variant
Cone dystrophy 3
GUncertain significance
GUCA1A, GUCA1ANB
+1 more
(H42N +1 more)
Single nucleotide variant
Cone dystrophy 3
GUncertain significance
CIMIP3, GUCA1A
+1 more
Single nucleotide variant
Cone dystrophy 3
GBenign
CIMIP3, GUCA1A
+1 more
(G16V)
Single nucleotide variant
Cone dystrophy 3
GUncertain significance
CIMIP3, GUCA1A
+1 more
(M14L)
Single nucleotide variant
Cone dystrophy 3
GBenign
CIMIP3, GUCA1A
+1 more
Single nucleotide variant
Cone dystrophy 3
GUncertain significance
CACNA2D4
(L198Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CACNA2D4
(E228D)
Single nucleotide variant
(missense variant)
Cone dystrophy 3
GUncertain significance
CACNA2D4
(R707H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
CACNA2D4
(S905F)
Single nucleotide variant
(missense variant)
Cone dystrophy 3
+1 more
GUncertain significance
CACNA2D4
Deletion
(splice donor variant)
not provided
+1 more
GUncertain significance
CACNA2D4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CACNA2D4
Single nucleotide variant
(3 prime UTR variant)
Cone dystrophy 3
GUncertain significance
CACNA2D4
Deletion
(3 prime UTR variant)
Cone dystrophy 3
GLikely benign
CACNA2D4
Deletion
(3 prime UTR variant)
Cone dystrophy 3
GBenign
CACNA2D4
Insertion
(3 prime UTR variant)
Cone dystrophy 3
GBenign
PDE6H
Single nucleotide variant
Cone dystrophy 3
GUncertain significance
CACNA2D4
(I327V)
Single nucleotide variant
(missense variant)
Retinal cone dystrophy 4
+3 more
GBenign
GUCA1A, GUCA1ANB-GUCA1A
+1 more
Single nucleotide variant
(synonymous variant)
Retinitis Pigmentosa, Dominant
+4 more
GBenign/Likely benign
GUCA1A, GUCA1ANB-GUCA1A
(I107T)
Single nucleotide variant
(missense variant)
Cone dystrophy 3
+1 more
GConflicting classifications of pathogenicity
GUCA1A, GUCA1ANB-GUCA1A
(L84F)
Single nucleotide variant
(missense variant)
Cone dystrophy 3
+1 more
GPathogenic/Likely pathogenic
GUCA1A, GUCA1ANB-GUCA1A
(L176F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GUCA1A, GUCA1ANB-GUCA1A
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
GUCA1A, GUCA1ANB-GUCA1A
(I122V)
Single nucleotide variant
(missense variant)
Cone dystrophy 3
+1 more
GUncertain significance
GUCA1A, GUCA1ANB-GUCA1A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNV2
(R27H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GUCA1A, GUCA1ANB-GUCA1A
(L151F)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GPathogenic
GUCA1A, GUCA1ANB-GUCA1A
(P50L)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
GUCA1A, GUCA1ANB-GUCA1A
(Y99C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
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