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Links from MedGen

Items: 1 to 100 of 147

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPS7
(V77A)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
(F94L)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
(A48S)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
(T181M)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
Duplication
(intron variant)
Diamond-Blackfan anemia 8
GBenign
RPS7
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia
+1 more
GLikely benign
RPS7
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
(D17H)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(splice donor variant)
Diamond-Blackfan anemia 8
GLikely pathogenic
RPS7
Single nucleotide variant
(splice donor variant)
Diamond-Blackfan anemia 8
GPathogenic
RPS7
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
(E131V)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(splice donor variant)
Diamond-Blackfan anemia 8
GPathogenic
RPS7
Indel
(intron variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
Single nucleotide variant
(5 prime UTR variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
Deletion
(splice donor variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
(G22fs)
Deletion
(frameshift variant)
Diamond-Blackfan anemia 8
GLikely pathogenic
RPS7
(V170F)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 8
GUncertain significance
ADI1, RNASEH1
+2 more
Duplication
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
(L40V)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
(K160R)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
(I60V)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 8
GBenign
RPS7
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
(G182D)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
(R145H)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
(L27I)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 8
GConflicting classifications of pathogenicity
RPS7
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
(V80I)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
(L40F)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Deletion
(intron variant)
Diamond-Blackfan anemia 8
GBenign
RPS7
Microsatellite
(intron variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia
+1 more
GLikely benign
RPS7
(K111N)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 8
+1 more
GLikely benign
RPS7
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 8
GLikely benign
RPS7
(E52D)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
(S88I)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
(R152P)
Single nucleotide variant
(missense variant)
RPS7-related disorder
+1 more
GUncertain significance
RPS7
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 8
+2 more
GConflicting classifications of pathogenicity
RPS7
(S5N)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
(S174C)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
(P104L)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
(S151I)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
(A26V)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
(L27F)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
(R57W)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
Microsatellite
(intron variant)
Diamond-Blackfan anemia 8
GUncertain significance
ADI1, COLEC11
+3 more
Duplication
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
(P11S)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
(V93I)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
(V146I)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 8
GUncertain significance
RPS7
Single nucleotide variant
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
RPS7
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
RPS7
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
RPS7
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 8
+1 more
GBenign/Likely benign
RPS7
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 8
GLikely benign
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