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Links from MedGen

Items: 1 to 100 of 1242

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAR, LOC126805874
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 6
+1 more
GLikely benign
ADAR
(S257R +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Aicardi-Goutieres syndrome 6
+1 more
GUncertain significance
ADAR
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 6
+1 more
GLikely benign
ADAR
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 6
+1 more
GLikely benign
ADAR
Single nucleotide variant
(5 prime UTR variant +1 more)
Aicardi-Goutieres syndrome 6
+1 more
GLikely benign
ADAR, LOC126805874
(I599V +5 more)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 6
+1 more
GUncertain significance
ADAR
(K678N +2 more)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 6
+1 more
GUncertain significance
ADAR
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 6
+1 more
GLikely benign
ADAR
(A1025G +5 more)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 6
+1 more
GUncertain significance
ADAR
(L1118F +5 more)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 6
+1 more
GUncertain significance
ADAR
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 6
+1 more
GLikely benign
ADAR
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 6
+1 more
GLikely benign
ADAR
Deletion
(nonsense)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
Single nucleotide variant
(synonymous variant)
Symmetrical dyschromatosis of extremities
+1 more
GLikely benign
ADAR
(M337fs +2 more)
Deletion
(frameshift variant)
Symmetrical dyschromatosis of extremities
+1 more
GPathogenic
ADAR
Single nucleotide variant
(synonymous variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
(R810C +3 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
Single nucleotide variant
(synonymous variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
(P69S +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
Single nucleotide variant
(splice acceptor variant)
Symmetrical dyschromatosis of extremities
+1 more
GLikely pathogenic
ADAR, LOC126805874
Single nucleotide variant
(intron variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
(H98Y +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
Single nucleotide variant
(intron variant)
Symmetrical dyschromatosis of extremities
+1 more
GLikely benign
ADAR
Single nucleotide variant
(synonymous variant)
Symmetrical dyschromatosis of extremities
+1 more
GLikely benign
ADAR
(G1176V +5 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
Single nucleotide variant
(synonymous variant)
Symmetrical dyschromatosis of extremities
+1 more
GLikely benign
ADAR
(C834F +5 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
Duplication
(intron variant)
Symmetrical dyschromatosis of extremities
+1 more
GLikely benign
ADAR
(L569V +2 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
(T567R +2 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR, LOC126805874
Single nucleotide variant
(synonymous variant)
Symmetrical dyschromatosis of extremities
+1 more
GLikely benign
ADAR
Single nucleotide variant
(synonymous variant)
Symmetrical dyschromatosis of extremities
+1 more
GLikely benign
ADAR
Single nucleotide variant
(synonymous variant)
Symmetrical dyschromatosis of extremities
+1 more
GLikely benign
ADAR
(D162G +2 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
(T405A +2 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
(V372M +2 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
(S581fs +2 more)
Duplication
(frameshift variant)
Symmetrical dyschromatosis of extremities
+1 more
GPathogenic
ADAR
(F39C +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
Deletion
(inframe_deletion)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
(V199I +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
(Y1177S +5 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
(K1063R +5 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
(F245S +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
Single nucleotide variant
(synonymous variant)
Symmetrical dyschromatosis of extremities
+1 more
GLikely benign
ADAR
(E382D +2 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
(N14D +2 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
Single nucleotide variant
(synonymous variant)
Symmetrical dyschromatosis of extremities
+1 more
GLikely benign
ADAR
Single nucleotide variant
(intron variant)
Symmetrical dyschromatosis of extremities
+1 more
GLikely benign
ADAR
Single nucleotide variant
(synonymous variant)
Symmetrical dyschromatosis of extremities
+1 more
GLikely benign
ADAR
Single nucleotide variant
(synonymous variant)
Symmetrical dyschromatosis of extremities
+1 more
GLikely benign
ADAR
(I229V +2 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
(K580R +2 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
(G107E +1 more)
Single nucleotide variant
(missense variant +2 more)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
Single nucleotide variant
(intron variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
Single nucleotide variant
(synonymous variant)
Symmetrical dyschromatosis of extremities
+1 more
GLikely benign
ADAR
(K884T +5 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
(T157I +1 more)
Single nucleotide variant
(missense variant +1 more)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
Single nucleotide variant
(synonymous variant)
Symmetrical dyschromatosis of extremities
+1 more
GLikely benign
ADAR
(R109A +1 more)
Indel
(missense variant +2 more)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
Single nucleotide variant
(synonymous variant)
Symmetrical dyschromatosis of extremities
+1 more
GLikely benign
ADAR
(D1090G +5 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
Single nucleotide variant
(synonymous variant)
Symmetrical dyschromatosis of extremities
+1 more
GLikely benign
ADAR
Single nucleotide variant
(synonymous variant)
Symmetrical dyschromatosis of extremities
+1 more
GLikely benign
ADAR
(G811S +5 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
(Q526* +2 more)
Single nucleotide variant
(nonsense)
Symmetrical dyschromatosis of extremities
+1 more
GPathogenic
ADAR
(R91G +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
(N711del +2 more)
Microsatellite
(inframe_deletion +1 more)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
Single nucleotide variant
(synonymous variant)
Symmetrical dyschromatosis of extremities
+1 more
GLikely benign
ADAR
Single nucleotide variant
(synonymous variant)
Symmetrical dyschromatosis of extremities
+1 more
GLikely benign
ADAR
(K417E +2 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
(M108I +2 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
(A768T +3 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 6
+1 more
GLikely benign
ADAR
(L126P +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Aicardi-Goutieres syndrome 6
+1 more
GUncertain significance
ADAR, LOC126805874
(S907C +5 more)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 6
+1 more
GUncertain significance
ADAR
Single nucleotide variant
(synonymous variant +1 more)
Aicardi-Goutieres syndrome 6
+1 more
GLikely benign
ADAR
Single nucleotide variant
(5 prime UTR variant +2 more)
Aicardi-Goutieres syndrome 6
+1 more
GLikely benign
ADAR
(G1099S +5 more)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 6
+1 more
GUncertain significance
ADAR
(F555L +2 more)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 6
+1 more
GUncertain significance
ADAR
(R83K +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Aicardi-Goutieres syndrome 6
+1 more
GUncertain significance
LOC126805874, ADAR
(G593R +5 more)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 6
+1 more
GUncertain significance
ADAR
(S121L +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Aicardi-Goutieres syndrome 6
+1 more
GUncertain significance
ADAR
(K1003E +5 more)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 6
+1 more
GUncertain significance
ADAR
(A685V +5 more)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 6
+1 more
GUncertain significance
ADAR
Single nucleotide variant
(intron variant)
Aicardi-Goutieres syndrome 6
+1 more
GLikely benign
ADAR
(R1000Q +5 more)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 6
+1 more
GUncertain significance
ADAR
(E687A +5 more)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 6
+1 more
GUncertain significance
ADAR
Single nucleotide variant
(synonymous variant)
Aicardi-Goutieres syndrome 6
+1 more
GLikely benign
ADAR
(L527del +2 more)
Microsatellite
(inframe_deletion +1 more)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
(K1168fs +5 more)
Deletion
(frameshift variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
(A1144V +5 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
(Y177C +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
(M523I +2 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
(Q131* +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Symmetrical dyschromatosis of extremities
+1 more
GPathogenic
ADAR, LOC126805874
Single nucleotide variant
(synonymous variant)
Symmetrical dyschromatosis of extremities
+1 more
GLikely benign
ADAR
Single nucleotide variant
(5 prime UTR variant +1 more)
Symmetrical dyschromatosis of extremities
+1 more
GLikely benign
ADAR
(T689I +5 more)
Single nucleotide variant
(missense variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
Single nucleotide variant
(intron variant)
Symmetrical dyschromatosis of extremities
+1 more
GUncertain significance
ADAR
Single nucleotide variant
(5 prime UTR variant +1 more)
Symmetrical dyschromatosis of extremities
+1 more
GLikely benign
ADAR
Single nucleotide variant
(synonymous variant)
Symmetrical dyschromatosis of extremities
+1 more
GLikely benign
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