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Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LINC02521, LINC02525
+281 more
Copy number gain
See cases
GPathogenic
BLOC1S5, BLOC1S5-TXNDC5
+159 more
Copy number loss
See cases
GPathogenic
LYRM4, LYRM4-AS1
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GBenign
LYRM4, LYRM4-AS1
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
LYRM4, LYRM4-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
LYRM4, LYRM4-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
LYRM4, LYRM4-AS1
Duplication
(intron variant)
not provided
GBenign
LYRM4, LYRM4-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
LYRM4, LYRM4-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LYRM4-AS1, LYRM4
Single nucleotide variant
(intron variant)
not provided
GBenign
LYRM4, LYRM4-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
LYRM4, LYRM4-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
LYRM4, LYRM4-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
LYRM4, LYRM4-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
LYRM4, LYRM4-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LYRM4, LYRM4-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
LYRM4, LYRM4-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
LYRM4, LYRM4-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
LYRM4, LYRM4-AS1
Deletion
(intron variant)
not provided
GBenign
LYRM4, LYRM4-AS1
Duplication
(intron variant)
not provided
GLikely benign
LYRM4, LYRM4-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
LYRM4, LYRM4-AS1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
LYRM4, LYRM4-AS1
Deletion
(intron variant)
not specified
GLikely benign
LYRM4, LYRM4-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
LYRM4, LYRM4-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
LYRM4, LYRM4-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
FARS2, LYRM4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LYRM4, LOC129995672
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
FARS2, LOC129995672
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
FARS2, LOC129995672
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
FARS2, LOC129995672
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC129995672, LYRM4
+1 more
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GLikely benign
FARS2, LOC129995672
+1 more
(S11A)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
FARS2, LOC129995672
+1 more
Duplication
(genic upstream transcript variant +2 more)
not provided
+2 more
GBenign/Likely benign
FARS2, LOC129995672
+1 more
Duplication
(5 prime UTR variant +1 more)
not specified
GBenign
LYRM4, FARS2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
FARS2, LOC129995673
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
LYRM4, FARS2
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
FARS2, LYRM4
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
FARS2, LYRM4
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
FARS2, LYRM4
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
FARS2, LYRM4
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
FARS2, LYRM4
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
FARS2, LYRM4
Deletion
(5 prime UTR variant)
not provided
GBenign
STMND1, SYCP2L
+95 more
Copy number gain
See cases
GPathogenic
BLOC1S5, BMP6
+60 more
Copy number loss
See cases
GPathogenic
PPP1R3G, BPHL
+33 more
Copy number loss
See cases
GPathogenic
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