U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130063254, LOC130063255
+810 more
Copy number gain
See cases
GPathogenic
ZNF562, ZNF699
+132 more
Duplication
Autism
GLikely pathogenic
HNRNPM
(A8V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
HNRNPM
(V11M)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
HNRNPM
(T14K)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
HNRNPM
(E20A)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
HNRNPM
(G26S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Long QT syndrome
GLikely benign
HNRNPM
(P36S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
HNRNPM
(P43L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
HNRNPM
(N59S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
HNRNPM
(K6R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HNRNPM
(E151D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HNRNPM
(M47T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HNRNPM
(P181S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HNRNPM
(N68S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HNRNPM
(M263V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HNRNPM
Single nucleotide variant
(intron variant)
not provided
GBenign
HNRNPM
(R173L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HNRNPM
(M206I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HNRNPM
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HNRNPM
(A382V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HNRNPM
(V391M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HNRNPM
(V312A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HNRNPM
(R314L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HNRNPM
(H425R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HNRNPM
(M426T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HNRNPM
(G347S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HNRNPM
(M447V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HNRNPM
(M362V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HNRNPM
(A499T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HNRNPM
(I373L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HNRNPM
(V380M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HNRNPM
(A400T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HNRNPM
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HNRNPM
(M558V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HNRNPM
(A521T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HNRNPM
(G462C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HNRNPM
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HNRNPM
(E470G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HNRNPM
(G481S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HNRNPM
(A482T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HNRNPM
(D581A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HNRNPM
(E624K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HNRNPM
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HNRNPM
(R710Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAMTS10, ANGPTL4
+35 more
Duplication
Mucolipidosis type IV
GUncertain significance
OR7E24, OR7G1
+31 more
Copy number gain
not provided
GUncertain significance
ANGPTL4, CAMSAP3
+30 more
Copy number gain
not provided
GUncertain significance
ACER1, ACSBG2
+165 more
Copy number gain
not provided
GPathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
HNRNPM, PRAM1
+1 more
Copy number gain
See cases
GUncertain significance
Format
Items per page
Sort by
Choose Destination