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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DM1-AS, DMPK
+1 more
(L580P +5 more)
Single nucleotide variant
(missense variant +1 more)
Steinert myotonic dystrophy syndrome
GUncertain significance
LOC129929042, DM1-AS
+2 more
(P557L +5 more)
Single nucleotide variant
(missense variant +1 more)
Steinert myotonic dystrophy syndrome
GUncertain significance
DM1-AS, DMPK
+1 more
(L438R +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Steinert myotonic dystrophy syndrome
GUncertain significance
DMPK
(P304L +4 more)
Single nucleotide variant
(missense variant)
Steinert myotonic dystrophy syndrome
GUncertain significance
DMPK
(G239D +3 more)
Single nucleotide variant
(missense variant)
Steinert myotonic dystrophy syndrome
GUncertain significance
DMPK
(R121C +3 more)
Single nucleotide variant
(missense variant)
Steinert myotonic dystrophy syndrome
GUncertain significance
DMPK
(W20C)
Single nucleotide variant
(missense variant +1 more)
Steinert myotonic dystrophy syndrome
GUncertain significance
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