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Links from MedGen

Items: 1 to 100 of 2499

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Microsatellite
(intron variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(splice donor variant)
Progressive sclerosing poliodystrophy
GPathogenic
POLG, POLGARF
(S1063G)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
GUncertain significance
POLG, POLGARF
Deletion
(intron variant)
Progressive sclerosing poliodystrophy
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
MIR6766, POLG
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
(G252A)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
(V844L)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
(V691A)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
(K934R)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
(A32T)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
GUncertain significance
POLGARF, POLG
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Duplication
(inframe_insertion)
Progressive sclerosing poliodystrophy
GUncertain significance
POLG, POLGARF
(R24L)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
GUncertain significance
POLG, POLGARF
(H734D)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
(G517E)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
FANCI, POLG
+1 more
Deletion
(3 prime UTR variant +1 more)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
(F197L)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
GUncertain significance
POLG, POLGARF
(T937S)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
FANCI, POLG
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
(T451I)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
(N740del)
Deletion
(inframe_deletion)
Progressive sclerosing poliodystrophy
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GUncertain significance
POLGARF, POLG
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
(G1017S)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
FANCI, POLG
+1 more
(G1238A)
Single nucleotide variant
(missense variant +1 more)
Progressive sclerosing poliodystrophy
GUncertain significance
POLG, POLGARF
(A170S)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
GUncertain significance
POLG, POLGARF
(D384G)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
GUncertain significance
POLG, POLGARF
Duplication
(inframe_insertion)
Progressive sclerosing poliodystrophy
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
FANCI, POLG
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
(Q53*)
Single nucleotide variant
(nonsense)
Progressive sclerosing poliodystrophy
GPathogenic
POLG, POLGARF
(P521L)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLGARF, POLG
(P95L)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
GUncertain significance
POLG, POLGARF
(A170V)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
GUncertain significance
POLG, POLGARF
(H805Y)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(synonymous variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
(G1051A)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
GLikely pathogenic
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
GUncertain significance
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
GLikely benign
POLG, POLGARF
Single nucleotide variant
(intron variant)
Progressive sclerosing poliodystrophy
GLikely benign
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