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Links from MedGen

Items: 1 to 100 of 1070

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRDM16
(M914I)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
(Q712*)
Single nucleotide variant
(nonsense)
Left ventricular noncompaction 8
GLikely pathogenic
PRDM16
(P139H)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
(A363V)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
(G362D)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
(I866F)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
(C1226R)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
Single nucleotide variant
(intron variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
(R1227K)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
(A1235T)
Single nucleotide variant
(missense variant +1 more)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
(D370N)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
Single nucleotide variant
(intron variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
(E580Q)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
(S295N)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
Single nucleotide variant
(intron variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
Single nucleotide variant
(intron variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
Single nucleotide variant
(intron variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
(C311R)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
Single nucleotide variant
(intron variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
Single nucleotide variant
(intron variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
(P937del)
Deletion
(inframe_deletion)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
Single nucleotide variant
(intron variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
(N161H)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
Single nucleotide variant
(intron variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
(A561T)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
(V1208A)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
(V629M)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
(K195E)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
(S793L)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
(P656L)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
(H672Q)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
(D636N)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
(F514S)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
(P787L)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
(G622D)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
(A724V)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
(R950*)
Single nucleotide variant
(nonsense)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
Single nucleotide variant
(intron variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
Microsatellite
(inframe_insertion)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
Single nucleotide variant
(intron variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
(G166D)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
(V1208F)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
(P499fs)
Deletion
(frameshift variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
(P779R)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
(S992L)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
Single nucleotide variant
(intron variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
(A175T)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
(G957E)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
Deletion
(intron variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
(F725L)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
Duplication
(intron variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
(L534M)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
Microsatellite
(inframe_deletion)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
(I172M)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
(N1082S)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
(D632N)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
(A663V)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
Single nucleotide variant
(intron variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
(P731S)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
(P505S)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
Single nucleotide variant
(intron variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
(R336H)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
(P62L)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
Single nucleotide variant
(intron variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
(Y451H)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
GUncertain significance
PRDM16
Single nucleotide variant
(intron variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
Single nucleotide variant
(intron variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
Microsatellite
(intron variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
Single nucleotide variant
(intron variant)
Left ventricular noncompaction 8
GLikely benign
Display optionsSort by RelevanceDownload
Format
Items per page
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