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Items: 84

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLRMT
(Y1093S +18 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
POLRMT
(T1092I +18 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(R1113L +18 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(R1103H +18 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
POLRMT
(K1063R +18 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
POLRMT
(L1154V +18 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(W1020R +18 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(T1011I +18 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(P1095S +12 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(K1102R +12 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
POLRMT
(P1006L +12 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(V1003I +12 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
POLRMT
(R1035Q +12 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(R1000C +9 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(S904C +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(W884C +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(Q769R +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
POLRMT
(Q769E +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(S766T +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(R817C +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(V712M +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
POLRMT
(R697C +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
POLRMT
(H677Y +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
POLRMT
(A652V +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
POLRMT
(L759V +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
POLRMT
(R649S +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(P641T +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
POLRMT
(A636D +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(P624L +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(N696S +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
POLRMT
(L588V +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(G680S +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(A566G +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
POLRMT
(T659M +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(P548L +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(R599C +5 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
POLRMT
(V501M +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(H497P +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(V601M +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(P576S +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(T479M +5 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
POLRMT
(A547T +5 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
POLRMT
(C533F +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(K518N +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
POLRMT
(L393V +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(R373W +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
POLRMT
(V372A +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(D475G +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(E447D +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(R339Q +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
POLRMT
(A444V +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
POLRMT
(R330W +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POLRMT
(K428N +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
POLRMT
(K320R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(S410N +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
POLRMT
(V309M +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(A301V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(L291F +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(K388R +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
POLRMT
(V260I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(P259A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
POLRMT
(Y285C +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
POLRMT
(A168T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(M155I +1 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation deficiency 55
+1 more
GUncertain significance
POLRMT
(R148Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely benign
POLRMT
(G143C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
POLRMT
(T179M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
POLRMT
(G65R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(K169E +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
POLRMT
(L59V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(L58F +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
POLRMT
(R159H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
POLRMT
(F40L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(M135I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(R121C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(P116L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
POLRMT
(G110E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(R90Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
POLRMT
(A75P)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
POLRMT
(R69W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POLRMT
(L62V)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
POLRMT
(R53C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130062834, POLRMT
(G7C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130062834, POLRMT
(S2W)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
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