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Links from MedGen

Items: 1 to 100 of 272

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMEM70
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
(A60fs)
Duplication
(frameshift variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GPathogenic
TMEM70
Single nucleotide variant
(intron variant)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
Deletion
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely pathogenic
TMEM70
(I168V)
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
Single nucleotide variant
(intron variant)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
(R61S)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
(R64W)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
Single nucleotide variant
(splice acceptor variant)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely pathogenic
TMEM70
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
(D91V)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
Duplication
(inframe_insertion +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
(P72L)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
(D239H)
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
(W52S)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
Deletion
(splice acceptor variant)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely pathogenic
TMEM70
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
(I71V)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
(D258G)
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
(L63R)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
(A11fs)
Duplication
(frameshift variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GPathogenic
TMEM70
(D259E)
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
(S8P)
Indel
(missense variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
Deletion
(inframe_deletion +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
(P139S)
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
(G98D)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
(F105L)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
(A131G)
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
(G165fs)
Deletion
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GPathogenic
TMEM70
(I233F)
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
(A103V)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
(A205V)
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
(H172R)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GUncertain significance
TMEM70
(R229H)
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
LOC130000614, TMEM70
Single nucleotide variant
(intron variant)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
(K240*)
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
(F81V)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
(N99S)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
(D231E)
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
(G237C)
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
(E76G)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
(K206N)
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
(R19S)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
(V36I)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
(S133A)
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
Single nucleotide variant
(intron variant)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
(P9L)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
(T191M)
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
(L23V)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
(H196Q)
Single nucleotide variant
(3 prime UTR variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
TMEM70
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
(T191R)
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
(Y166fs)
Deletion
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GPathogenic
TMEM70
(P15S)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
(I140V)
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
(G31S)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
(T178A)
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
(K260R)
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
(T127R)
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GUncertain significance
TMEM70
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
Single nucleotide variant
(intron variant)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
Single nucleotide variant
(intron variant)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
Single nucleotide variant
(intron variant)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
(S42G)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70, LOC130000614
Single nucleotide variant
(intron variant)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
Single nucleotide variant
(intron variant)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
TMEM70
Single nucleotide variant
(3 prime UTR variant +2 more)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GLikely benign
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