U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SNRNP200
(R1973H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SNRNP200
(T1108A)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 33
GUncertain significance
SNRNP200
(K1972Q)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 33
GUncertain significance
SNRNP200
(I539N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SNRNP200
(L651F)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 33
+1 more
GUncertain significance
SNRNP200
(R1090Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SNRNP200
(A503T)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 33
GUncertain significance
SNRNP200
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 33
+2 more
GBenign/Likely benign
SNRNP200
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SNRNP200
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 33
+2 more
GLikely benign
SNRNP200
(Y861H)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 33
GUncertain significance
SNRNP200
(K186R)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 33
GUncertain significance
SNRNP200
(R1648Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SNRNP200
(E210G)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 33
GUncertain significance
SNRNP200
(I596V)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 33
GUncertain significance
SNRNP200
(A787T)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 33
+2 more
GPathogenic/Likely pathogenic
SNRNP200
(R545H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SNRNP200
(A813V)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 33
GLikely pathogenic
SNRNP200
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 33
GLikely benign
SNRNP200
(V1346M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SNRNP200
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
SNRNP200
(R681C)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+3 more
GPathogenic/Likely pathogenic
SNRNP200
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
+3 more
GBenign
SNRNP200
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
+3 more
GBenign
LOC126806272, SNRNP200
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
+3 more
GBenign
SNRNP200
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa
+2 more
GBenign/Likely benign
SNRNP200
(A1995T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
SNRNP200
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
SNRNP200
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
+4 more
GBenign/Likely benign
SNRNP200
(N1002S)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
SNRNP200
(T934A)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
SNRNP200
(R681H)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 33
+2 more
GPathogenic/Likely pathogenic
SNRNP200
(Q885E)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 33
GPathogenic
SNRNP200
(R1090L)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 33
GPathogenic
SNRNP200
(S1087L)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 33
+2 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination