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Items: 1 to 100 of 524

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130061792, TMC6
+1 more
Deletion
(inframe_deletion +2 more)
Epidermodysplasia verruciformis
GUncertain significance
LOC130061792, TMC6
+1 more
Microsatellite
(inframe_indel +3 more)
Epidermodysplasia verruciformis
GUncertain significance
LOC130061792, TMC6
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
TMC8, LOC130061792
+1 more
(P4L)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
LOC130061792, TMC6
+1 more
(S9P)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
LOC130061792, TMC6
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
LOC130061792, TMC6
+1 more
(R11G)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
LOC130061792, TMC6
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
LOC130061792, TMC6
+1 more
(A12T)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC6, TMC8
+1 more
(A12V)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
LOC130061792, TMC6
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
LOC130061792, TMC6
+1 more
Insertion
(inframe_insertion +1 more)
Epidermodysplasia verruciformis
GUncertain significance
LOC130061792, TMC6
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
TMC8, LOC130061792
+1 more
(E19V)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC8, LOC130061792
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
TMC6, TMC8
+1 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
TMC6, TMC8
+1 more
(A24T)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
LOC130061792, TMC6
+1 more
(M26T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
LOC130061792, TMC6
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
LOC130061792, TMC6
+1 more
(G31S)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
LOC130061792, TMC6
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
LOC130061792, TMC6
+1 more
(S32fs)
Duplication
(frameshift variant +1 more)
Epidermodysplasia verruciformis
GPathogenic
TMC8, LOC130061792
+1 more
(S32F)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC8, TMC6
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
LOC130061792, TMC6
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
LOC130061792, TMC6
+1 more
(V36M)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
+1 more
GUncertain significance
LOC130061792, TMC6
+1 more
(P40S)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC8, TMC6
+1 more
(P40A)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
+1 more
GConflicting classifications of pathogenicity
LOC130061792, TMC6
+1 more
(M43V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
LOC130061792, TMC6
+1 more
(D45H)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC6, TMC8
+1 more
(K46R)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
LOC130061792, TMC6
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
LOC130061792, TMC6
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GBenign
LOC130061792, TMC6
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
LOC130061792, TMC6
+1 more
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
+2 more
GUncertain significance
LOC130061792, TMC6
+1 more
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
LOC130061792, TMC6
+1 more
Deletion
(intron variant)
Epidermodysplasia verruciformis
GBenign
TMC6, TMC8
+1 more
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
LOC130061792, TMC6
+1 more
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
LOC130061792, TMC6
+1 more
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
TMC8, LOC130061792
+1 more
Deletion
(intron variant)
Epidermodysplasia verruciformis
GUncertain significance
LOC130061792, TMC6
+1 more
(R53W)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
LOC130061792, TMC6
+1 more
(R53G)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
LOC130061792, TMC6
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
TMC8, LOC130061792
+1 more
(A56P)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC8, LOC130061792
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
LOC130061792, TMC6
+1 more
(Q59*)
Single nucleotide variant
(nonsense +1 more)
Epidermodysplasia verruciformis
GPathogenic
LOC130061792, TMC6
+1 more
(R62H)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
LOC130061792, TMC6
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
LOC130061792, TMC6
+1 more
(W63R)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
LOC130061792, TMC6
+1 more
(R65W)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
+1 more
GUncertain significance
LOC130061792, TMC6
+1 more
(R65L)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
LOC130061792, TMC6
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
LOC130061792, TMC6
+1 more
(R70Q)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC6, TMC8
+1 more
(T72K)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
LOC130061792, TMC6
+1 more
(R76C)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
LOC130061792, TMC6
+1 more
(R78W)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC6, TMC8
(R83P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
TMC6, TMC8
(L84V)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
+2 more
GUncertain significance
TMC6, TMC8
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
TMC6, TMC8
(R86G)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
+1 more
GConflicting classifications of pathogenicity
TMC6, TMC8
(G87R)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC6, TMC8
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
TMC6, TMC8
(L90F)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC6, TMC8
(W91R)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC6, TMC8
(G93R)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC6, TMC8
(G93R)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC6, TMC8
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
+1 more
GBenign
TMC6, TMC8
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
TMC6, TMC8
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
TMC8, TMC6
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
TMC6, TMC8
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
TMC6, TMC8
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
TMC6, TMC8
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
TMC6, TMC8
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
LOC130061793, TMC6
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
LOC130061793, TMC6
+1 more
(G103R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC6, TMC8
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
TMC8, LOC130061793
+1 more
(I106fs)
Deletion
(5 prime UTR variant +1 more)
Epidermodysplasia verruciformis
GPathogenic
LOC130061793, TMC6
+1 more
(R107W)
Single nucleotide variant
(5 prime UTR variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
LOC130061793, TMC6
+1 more
(R107Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC8, LOC130061793
+1 more
(Y109F)
Single nucleotide variant
(5 prime UTR variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
LOC130061793, TMC6
+1 more
(R114S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
LOC130061793, TMC6
+1 more
(R114H)
Single nucleotide variant
(5 prime UTR variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC8, LOC130061793
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
LOC130061793, TMC8
Single nucleotide variant
(synonymous variant)
Epidermodysplasia verruciformis
GLikely benign
LOC130061793, TMC8
Single nucleotide variant
(synonymous variant)
Epidermodysplasia verruciformis
GLikely benign
LOC130061793, TMC8
(L124P)
Single nucleotide variant
(missense variant)
Epidermodysplasia verruciformis
GUncertain significance
LOC130061793, TMC8
Single nucleotide variant
(synonymous variant)
Epidermodysplasia verruciformis
GLikely benign
LOC130061793, TMC8
(L126F)
Single nucleotide variant
(missense variant)
Epidermodysplasia verruciformis
+1 more
GUncertain significance
LOC130061793, TMC8
Single nucleotide variant
(synonymous variant)
Epidermodysplasia verruciformis
GLikely benign
LOC130061793, TMC8
Single nucleotide variant
(synonymous variant)
Epidermodysplasia verruciformis
GLikely benign
TMC8, LOC130061793
Single nucleotide variant
(synonymous variant)
Epidermodysplasia verruciformis
GLikely benign
LOC130061793, TMC8
(F130L)
Single nucleotide variant
(missense variant)
Epidermodysplasia verruciformis
GUncertain significance
LOC130061793, TMC8
(V131L)
Single nucleotide variant
(missense variant)
Epidermodysplasia verruciformis
GUncertain significance
TMC8, LOC130061793
Single nucleotide variant
(synonymous variant)
Epidermodysplasia verruciformis
GLikely benign
LOC130061793, TMC8
(L132R)
Single nucleotide variant
(missense variant)
Epidermodysplasia verruciformis
GUncertain significance
LOC130061793, TMC8
(W137C)
Single nucleotide variant
(missense variant)
Epidermodysplasia verruciformis
GUncertain significance
LOC130061793, TMC8
Single nucleotide variant
(synonymous variant)
Epidermodysplasia verruciformis
GLikely benign
LOC130061793, TMC8
(R139H)
Single nucleotide variant
(missense variant)
Epidermodysplasia verruciformis
GUncertain significance
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