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Items: 1 to 100 of 855

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MIR636, MIR6516
+1033 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+1013 more
Copy number gain
See cases
GPathogenic
AATK, ACTG1
+513 more
Copy number gain
See cases
GPathogenic
AFMID, BIRC5
+82 more
Copy number loss
See cases
GLikely benign
TMC6
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
TMC6
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
TMC6
(A745V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TMC6
(Q803fs +1 more)
Deletion
(frameshift variant +1 more)
Epidermodysplasia verruciformis, susceptibility to, 1
GUncertain significance
TMC6
(A797V +1 more)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
(P736L +1 more)
Single nucleotide variant
(missense variant)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
(P735L +1 more)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
+1 more
GConflicting classifications of pathogenicity
TMC6
(P795S +1 more)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
(A794T +1 more)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
(A794P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TMC6
(A733V +1 more)
Single nucleotide variant
(missense variant)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
(E790K +1 more)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
Single nucleotide variant
(synonymous variant)
Epidermodysplasia verruciformis
GLikely benign
TMC6
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
TMC6
(G727R +1 more)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
TMC6
(V726I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TMC6
(R725S +1 more)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
Single nucleotide variant
(splice acceptor variant)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TMC6
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
TMC6
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
TMC6
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
TMC6
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
TMC6
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TMC6
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
TMC6
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
TMC6
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
TMC6
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
TMC6
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
TMC6
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GBenign
TMC6
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
(R785T +1 more)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
+1 more
GUncertain significance
TMC6
(S724N +1 more)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
(R723S +1 more)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
(E776K +1 more)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
TMC6
(Y775* +1 more)
Single nucleotide variant
(nonsense)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
(S713Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TMC6
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
TMC6
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
TMC6
(G701V +1 more)
Single nucleotide variant
(missense variant)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
TMC6
(E760D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
TMC6
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
TMC6
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
TMC6
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
TMC6
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
TMC6
(N759D +1 more)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
+1 more
GUncertain significance
TMC6
(I697V +1 more)
Single nucleotide variant
(missense variant)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
(I697F +1 more)
Single nucleotide variant
(missense variant)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
(Q696* +1 more)
Single nucleotide variant
(nonsense +1 more)
Epidermodysplasia verruciformis
GPathogenic
TMC6
(E695L +1 more)
Indel
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
(E755K +1 more)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
+1 more
GUncertain significance
TMC6
(L752P +1 more)
Single nucleotide variant
(missense variant)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
TMC6
(I750M +1 more)
Single nucleotide variant
(missense variant)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
TMC6
(V689A +1 more)
Single nucleotide variant
(missense variant)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
(K748N +1 more)
Single nucleotide variant
(missense variant)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
(R687H +1 more)
Single nucleotide variant
(missense variant)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
(R747C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
TMC6
(R744Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
(R684W +1 more)
Single nucleotide variant
(missense variant)
Epidermodysplasia verruciformis
+1 more
GUncertain significance
TMC6
(Y677* +1 more)
Single nucleotide variant
(nonsense +1 more)
Epidermodysplasia verruciformis
GPathogenic
TMC6
(V675L +1 more)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
TMC6
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
TMC6
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
TMC6
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
TMC6
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
TMC6
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
TMC6
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
TMC6
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
TMC6
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
TMC6
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
TMC6
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
TMC6
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
TMC6
Single nucleotide variant
(intron variant)
Epidermodysplasia verruciformis
GLikely benign
TMC6
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
TMC6
(V668M +1 more)
Single nucleotide variant
(missense variant)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
TMC6
Single nucleotide variant
(synonymous variant)
Epidermodysplasia verruciformis
GLikely benign
TMC6
(T662S +1 more)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
(N661T +1 more)
Single nucleotide variant
(missense variant)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
(R716L +1 more)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
TMC6
(S709F +1 more)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
TMC6
(P646L +1 more)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
Single nucleotide variant
(synonymous variant +1 more)
Epidermodysplasia verruciformis
GLikely benign
TMC6
(A703V +1 more)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
(R699H +1 more)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
(R699C +1 more)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
(R639G +1 more)
Single nucleotide variant
(missense variant +1 more)
Epidermodysplasia verruciformis
GUncertain significance
TMC6
(V638A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TMC6
(W637R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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