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Items: 78

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129391127, LOC129391128
+363 more
Copy number gain
See cases
GPathogenic
CALM3, CCDC61
+190 more
Copy number loss
See cases
GLikely pathogenic
MEIOSIN, MIR330
+115 more
Copy number loss
See cases
GPathogenic
DMWD
(S648G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(E641G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(T640S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(E638K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(T636A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(I625V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(L606F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(P585L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(L583V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(A582V)
Single nucleotide variant
(missense variant)
DMWD-related disorder
GBenign
DMWD
Single nucleotide variant
(synonymous variant)
DMWD-related disorder
GBenign
DMWD
(R542H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(R542C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DMWD
(R531Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
Single nucleotide variant
(synonymous variant)
DMWD-related disorder
GBenign
DMWD
(R522H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(T516A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(G507R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(S474C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(A473T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
Single nucleotide variant
(synonymous variant)
DMWD-related disorder
GBenign
DMWD
(P471S)
Single nucleotide variant
(missense variant)
DMWD-related disorder
GBenign
DMWD
(T469K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(R460H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(R460C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(T459P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(R458H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(R458P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
Single nucleotide variant
(synonymous variant)
DMWD-related disorder
GBenign
DMWD
(P452T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(L450F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(V449L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(Q439H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(G425V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
Single nucleotide variant
(synonymous variant)
DMWD-related disorder
GBenign
DMWD
(A416V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
Single nucleotide variant
(synonymous variant)
DMWD-related disorder
GBenign
DMWD
(A408V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(R396Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(G394A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(G394R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(T388R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(R363Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(D305E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
Single nucleotide variant
(synonymous variant)
DMWD-related disorder
GBenign
DMWD
(P251L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(S145T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(G123V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(G122W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
Single nucleotide variant
(synonymous variant)
DMWD-related disorder
GBenign
DMWD
(E111Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
Single nucleotide variant
(synonymous variant)
DMWD-related disorder
GBenign
DMWD
(A109V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD
(S106N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD, LOC130064728
(G86A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD, LOC130064728
(P80L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD, LOC130064728
(P62A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD, LOC130064728
(R44S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD, LOC130064728
(P37S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD, LOC130064728
(A15P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD, LOC130064728
(A14V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD, LOC130064728
(S10A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD, LOC130064728
(E7A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD, LOC130064728
(A6G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD, LOC130064728
(A6P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DMWD, LOC130064728
(A3V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OPA3, PPP1R37
+74 more
Copy number gain
not provided
GUncertain significance
C5AR1, C5AR2
+293 more
Copy number gain
not provided
GPathogenic
ZNF607, ZNF780A
+432 more
Copy number gain
not provided
GPathogenic
CCDC61, DMPK
+14 more
Copy number gain
not provided
GUncertain significance
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
DMPK, DMWD
+2 more
Copy number gain
See cases
GUncertain significance
APOC1, APOC2
+120 more
Copy number loss
See cases
GPathogenic
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