U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 1341

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABR, ABR-AS1
+224 more
Copy number loss
See cases
GPathogenic
LOC130060143, LOC130060144
+963 more
Copy number gain
See cases
GPathogenic
MIR22HG, MIR3183
+464 more
Copy number loss
See cases
GPathogenic
MIR6883, MIR744
+923 more
Copy number gain
See cases
GPathogenic
BHLHA9, CRK
+144 more
Copy number loss
See cases
GLikely pathogenic
ABR, ABR-AS1
+652 more
Copy number loss
See cases
GPathogenic
ABR, ABR-AS1
+84 more
Copy number gain
See cases
GLikely pathogenic
ABR, ABR-AS1
+102 more
Copy number loss
See cases
GLikely pathogenic
LOC130059866, LOC130059867
+499 more
Copy number loss
See cases
GPathogenic
ABR, ABR-AS1
+912 more
Copy number gain
Chromosome 17p13.3 duplication syndrome
GPathogenic
LOC130060025, LOC130060026
+458 more
Copy number loss
See cases
GPathogenic
HIC1, INPP5K
+303 more
Copy number loss
See cases
GPathogenic
ABR, ABR-AS1
+197 more
Copy number loss
See cases
GPathogenic
YWHAE, ZBTB4
+605 more
Copy number gain
See cases
GPathogenic
ABR, ABR-AS1
+100 more
Copy number loss
See cases
GPathogenic
ABR, ABR-AS1
+163 more
Copy number loss
See cases
GPathogenic
ABR, ABR-AS1
+217 more
Copy number loss
See cases
GPathogenic
LOC130059934, LOC130059935
+243 more
Copy number loss
See cases
GPathogenic
ABR, ABR-AS1
+178 more
Copy number gain
See cases
GPathogenic
ABR, ABR-AS1
+352 more
Copy number loss
See cases
GPathogenic
ABR, ABR-AS1
+180 more
Copy number gain
See cases
GPathogenic
ABR, ABR-AS1
+168 more
Copy number gain
See cases
GPathogenic
ABR, ABR-AS1
+134 more
Copy number gain
See cases
GPathogenic
ABR, ABR-AS1
+119 more
Copy number loss
See cases
GPathogenic
MIR22, MIR22HG
+53 more
Copy number gain
Chromosome 17p13.3 duplication syndrome
GPathogenic
ABR, BHLHA9
+51 more
Copy number gain
See cases
GPathogenic
ABR, BHLHA9
+114 more
Copy number loss
See cases
GPathogenic
RILP, RPA1
+86 more
Copy number loss
See cases
GLikely pathogenic
ABR, BHLHA9
+114 more
Copy number gain
See cases
GLikely pathogenic
CCDC92B, CLUH
+164 more
Copy number gain
See cases
GPathogenic
ASPA, CCDC92B
+174 more
Copy number gain
See cases
GLikely pathogenic
PRPF8
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
GUncertain significance
PRPF8
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
GLikely benign
PRPF8
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
GUncertain significance
PRPF8
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
GUncertain significance
PRPF8
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
GUncertain significance
PRPF8
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
GUncertain significance
PRPF8
Deletion
(stop lost +1 more)
not provided
GUncertain significance
PRPF8
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
GUncertain significance
PRPF8
Single nucleotide variant
(3 prime UTR variant)
Retinitis pigmentosa
GLikely benign
PRPF8
Single nucleotide variant
(stop lost)
not provided
GPathogenic
PRPF8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRPF8
(Y2334*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
PRPF8
(Y2334N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
PRPF8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRPF8
(D2332E)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
PRPF8
(D2332fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 13
GLikely pathogenic
PRPF8
(D2332Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRPF8
Deletion
(inframe_deletion)
not provided
GPathogenic
PRPF8
(E2331*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
PRPF8
(E2331fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
PRPF8
(E2331fs)
Deletion
(frameshift variant)
not provided
GPathogenic/Likely pathogenic
PRPF8
(E2331K)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 13
GLikely pathogenic
PRPF8
(R2330P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRPF8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRPF8
(A2328V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRPF8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRPF8
(Y2326*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
PRPF8
(Y2326fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
PRPF8
(V2325fs)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
PRPF8
(E2324fs)
Duplication
(frameshift variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PRPF8
(G2323E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRPF8
(G2323R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRPF8
(G2323W)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 13
GUncertain significance
PRPF8
(E2322D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PRPF8
(Q2321*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
PRPF8
(L2320R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRPF8
(L2320fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
PRPF8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRPF8
(L2319F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRPF8
(F2317I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRPF8
(N2316fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
PRPF8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRPF8
(F2314L)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PRPF8
(F2314L)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PRPF8
(F2314S)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PRPF8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRPF8
(H2313R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRPF8
(P2311S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRPF8
(R2310S)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PRPF8
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PRPF8
(R2310K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
PRPF8
(R2310G)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+1 more
GPathogenic
PRPF8
(H2309L)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 13
+1 more
GConflicting classifications of pathogenicity
PRPF8
(H2309P)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GPathogenic/Likely pathogenic
PRPF8
(H2309R)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GPathogenic
PRPF8
(H2309D)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
GUncertain significance
PRPF8
(H2306Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRPF8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRPF8
(F2304L)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PRPF8
(F2304L)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
PRPF8
(F2304L)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PRPF8
(F2304V)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GConflicting classifications of pathogenicity
PRPF8
(E2303G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRPF8
(K2302N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRPF8
(K2302N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRPF8
(P2301L)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 13
GUncertain significance
PRPF8
(P2301S)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GPathogenic
PRPF8
(P2301T)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PRPF8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
Format
Items per page
Sort by
Choose Destination