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Items: 1 to 100 of 123

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARSD1, AATF
+2032 more
Copy number gain
See cases
GPathogenic
LOC126862582, LOC126862583
+1753 more
Copy number gain
See cases
GPathogenic
ARL5C, CACNB1
+50 more
Copy number gain
See cases
GLikely benign
LOC130060786, LOC130060787
+633 more
Copy number gain
See cases
GPathogenic
RPL19
(M1L)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
RPL19
(M1R)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
RPL19
(M1I)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
RPL19
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
RPL19
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
RPL19
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
RPL19
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
RPL19
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
RPL19
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
RPL19
Deletion
(5 prime UTR variant +1 more)
not provided
GLikely benign
RPL19
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
RPL19
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
RPL19
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
RPL19
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
RPL19
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
RPL19
Deletion
(intron variant)
not provided
GLikely benign
RPL19
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPL19
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPL19
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPL19
Duplication
(intron variant)
not provided
GLikely benign
RPL19
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPL19
(L4P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPL19
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPL19
(A9S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPL19
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPL19
(S12C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPL19
(S11I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPL19
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPL19
(R16C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPL19
(R14I +1 more)
Indel
(missense variant)
not provided
GUncertain significance
RPL19
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPL19
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPL19
(K19E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPL19
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPL19
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPL19
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPL19
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
RPL19
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPL19
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPL19
(N32S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPL19
(S35A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPL19
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPL19
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPL19
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPL19
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPL19
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPL19
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
RPL19
(R40Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPL19
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
RPL19
(T54M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPL19
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia
+1 more
GBenign
RPL19
(T65I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPL19
(L66F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPL19
(R68C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPL19
(R68H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPL19
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia
GLikely benign
RPL19
(R69Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPL19
(K70N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPL19
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia
+1 more
GBenign/Likely benign
RPL19
(M74V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPL19
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
RPL19
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPL19
Indel
(intron variant)
not provided
GUncertain significance
RPL19
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPL19
Deletion
(intron variant)
not provided
GLikely benign
RPL19
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPL19
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPL19
Single nucleotide variant
(intron variant)
not provided
GBenign
RPL19
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPL19
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPL19
(R102Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPL19
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPL19
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPL19
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPL19
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPL19
(R108H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPL19
(E111G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPL19
(D116N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPL19
(R115H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPL19
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPL19
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPL19
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPL19
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPL19
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
RPL19
(V125A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPL19
(K131R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPL19
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia
+1 more
GLikely benign
RPL19
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia
GLikely benign
LOC129390868, RPL19
Microsatellite
(intron variant)
not provided
GBenign
RPL19
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPL19
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RPL19
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RPL19
(E175A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPL19
(L177F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPL19
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia
+1 more
GBenign/Likely benign
RPL19
(A177V +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
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