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Links from MedGen

Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RMND1
(V235M +1 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 11
GUncertain significance
RMND1
(F36fs)
Deletion
(frameshift variant +1 more)
Combined oxidative phosphorylation defect type 11
GPathogenic
RMND1
(G195R +1 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 11
GUncertain significance
RMND1
(G221R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RMND1
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 11
+1 more
GLikely benign
RMND1
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
RMND1
(A86V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
RMND1
(D217H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RMND1
(W260S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RMND1
(H265Q +1 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 11
+3 more
GConflicting classifications of pathogenicity
RMND1
(R362C +1 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 11
+1 more
GUncertain significance
RMND1
(N63S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
RMND1
(F6I +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RMND1
(L242fs +1 more)
Deletion
(frameshift variant)
Combined oxidative phosphorylation defect type 11
+1 more
GPathogenic/Likely pathogenic
RMND1
(R23Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
RMND1
(I262T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RMND1
(R87H)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
RMND1
(R114S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RMND1
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 11
+1 more
GBenign
RMND1
(I117F +1 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 11
GLikely pathogenic
RMND1
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
RMND1
(E347K +1 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 11
+1 more
GUncertain significance
RMND1
(A177V +1 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 11
GUncertain significance
RMND1
(E116fs +1 more)
Deletion
(frameshift variant)
Combined oxidative phosphorylation defect type 11
GPathogenic
RMND1
Copy number loss
Combined oxidative phosphorylation defect type 11
GPathogenic
RMND1
(T73fs +1 more)
Deletion
(frameshift variant)
Combined oxidative phosphorylation defect type 11
GLikely pathogenic
RMND1
(V130fs)
Deletion
(frameshift variant +1 more)
Combined oxidative phosphorylation defect type 11
GLikely pathogenic
RMND1
(N307S +1 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 11
+1 more
GUncertain significance
RMND1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
RMND1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
RMND1
Single nucleotide variant
(synonymous variant)
RMND1-related disorder
+2 more
GBenign/Likely benign
RMND1
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 11
+1 more
GBenign/Likely benign
RMND1
(E259V +1 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 11
GUncertain significance
RMND1
(M350T +1 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 11
GUncertain significance
RMND1
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
RMND1
(R362H +1 more)
Single nucleotide variant
(missense variant)
RMND1-related disorder
+2 more
GConflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 11
GPathogenic
RMND1
Deletion
Combined oxidative phosphorylation defect type 11
GPathogenic
RMND1
(P162fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
RMND1
(D205Y +1 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 11
GPathogenic
RMND1
(N238S +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial oxidative phosphorylation disorder
+3 more
GConflicting classifications of pathogenicity
RMND1
Single nucleotide variant
(stop lost)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
RMND1
(S42I)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
RMND1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
RMND1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
RMND1
(R417Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
RMND1
Single nucleotide variant
(intron variant +1 more)
Combined oxidative phosphorylation defect type 11
+1 more
GPathogenic/Likely pathogenic
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