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Links from MedGen

Items: 1 to 100 of 217

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
DMPK
(G239D +3 more)
Single nucleotide variant
(missense variant)
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
(R121C +3 more)
Single nucleotide variant
(missense variant)
Steinert myotonic dystrophy syndrome
GUncertain significance
DMPK
(P304L +4 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
LOC129929042, DM1-AS
+2 more
(P557L +5 more)
Single nucleotide variant
(missense variant +1 more)
Steinert myotonic dystrophy syndrome
GUncertain significance
DMPK
Microsatellite
Steinert myotonic dystrophy syndrome
GBenign
DMPK
Microsatellite
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GConflicting classifications of pathogenicity
DMPK, LOC107075317
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, LOC107075317
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GBenign
DM1-AS, LOC107075317
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
LOC109461477, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
LOC109461477, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GBenign
DM1-AS, DMPK
+3 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GBenign
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
LOC107075317, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
LOC107075317, DM1-AS
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
LOC107075317, LOC109461477
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DMPK, LOC107075317
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, LOC109461477
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
LOC109461477, LOC107075317
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
LOC107075317, DM1-AS
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, LOC109461477
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DMPK, LOC107075317
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DMPK, LOC109461477
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GBenign
DM1-AS, LOC109461477
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GBenign
DMPK, LOC109461477
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
LOC109461477, DM1-AS
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
LOC107075317, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, LOC109461477
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GBenign
DM1-AS, LOC109461477
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GBenign
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
+1 more
GBenign
LOC107075317, DM1-AS
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DMPK, LOC109461477
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
LOC107075317, DM1-AS
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, LOC107075317
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
LOC107075317, DM1-AS
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GBenign
LOC109461477, LOC107075317
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GBenign
DMPK, LOC109461477
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DMPK, LOC107075317
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+3 more
Microsatellite
(no sequence alteration)
Steinert myotonic dystrophy syndrome
GBenign
LOC109461477, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, LOC109461477
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
LOC109461477, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, LOC107075317
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GBenign
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DMPK, LOC109461477
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DMPK, LOC107075317
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GBenign
DMPK
Microsatellite
Steinert myotonic dystrophy syndrome
GPathogenic
DMPK
Microsatellite
Steinert myotonic dystrophy syndrome
GPathogenic
DMPK
Microsatellite
Steinert myotonic dystrophy syndrome
GPathogenic
DMPK
Microsatellite
Steinert myotonic dystrophy syndrome
GPathogenic
DMPK
Microsatellite
Steinert myotonic dystrophy syndrome
GLikely pathogenic
DMPK
(T132R +3 more)
Single nucleotide variant
(missense variant)
Steinert myotonic dystrophy syndrome
GUncertain significance
LOC107075317, LOC129929041
+2 more
(V597I +3 more)
Single nucleotide variant
(missense variant +2 more)
Steinert myotonic dystrophy syndrome
GUncertain significance
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DMPK
(R311* +3 more)
Single nucleotide variant
(nonsense)
Steinert myotonic dystrophy syndrome
GUncertain significance
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+3 more
Microsatellite
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+3 more
Microsatellite
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+3 more
Microsatellite
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
(A613S +3 more)
Single nucleotide variant
(missense variant +2 more)
Steinert myotonic dystrophy syndrome
GLikely benign
DMPK, LOC107075317
(V437M +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DM1-AS, DMPK
+3 more
Microsatellite
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+3 more
Microsatellite
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
DM1-AS, DMPK
+2 more
Microsatellite
(3 prime UTR variant)
Steinert myotonic dystrophy syndrome
GPathogenic
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