ClinVar for MedGen (Select 481329) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3009784	NM_017866.6(TMEM70):c.543C>T (p.Ala181=)	TMEM70	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 3000491	NM_017866.6(TMEM70):c.210+15G>A	LOC130000614, TMEM70	Single nucleotide variant (intron variant)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2919516	NM_017866.6(TMEM70):c.339T>C (p.Ser113=)	TMEM70	Single nucleotide variant (3 prime UTR variant +2 more)	TMEM70-related condition +1 more	GLikely benign
Select item 2917119	NM_017866.6(TMEM70):c.224G>A (p.Trp75Ter)	TMEM70 (W75*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GPathogenic
Select item 2914675	NM_017866.6(TMEM70):c.505C>T (p.Arg169Ter)	TMEM70 (R169*)	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GPathogenic
Select item 2914339	NM_017866.6(TMEM70):c.549C>T (p.Thr183=)	TMEM70	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2896563	NM_017866.6(TMEM70):c.309A>C (p.Ala103=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2885669	NM_017866.6(TMEM70):c.729T>C (p.Phe243=)	TMEM70	Single nucleotide variant (synonymous variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2853921	NM_017866.6(TMEM70):c.687T>G (p.Arg229=)	TMEM70	Single nucleotide variant (synonymous variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2851084	NM_017866.6(TMEM70):c.58A>C (p.Arg20=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2823737	NM_017866.6(TMEM70):c.102C>T (p.Ala34=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2819165	NM_017866.6(TMEM70):c.27G>C (p.Pro9=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2817833	NM_017866.6(TMEM70):c.210+8G>T	LOC130000614, TMEM70	Single nucleotide variant (intron variant)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2801677	NM_017866.6(TMEM70):c.138G>A (p.Ser46=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2801161	NM_017866.6(TMEM70):c.317-23CT[2]	TMEM70	Microsatellite (intron variant)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2788070	NM_017866.6(TMEM70):c.317-17_317-14del	TMEM70	Deletion (intron variant)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2785122	NM_017866.6(TMEM70):c.192G>A (p.Arg64=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2759638	NM_017866.6(TMEM70):c.483T>C (p.Phe161=)	TMEM70	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2750615	NM_017866.6(TMEM70):c.606T>C (p.Ile202=)	TMEM70	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2743770	NM_017866.6(TMEM70):c.177dup (p.Ala60fs)	TMEM70 (A60fs)	Duplication (frameshift variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GPathogenic
Select item 2730210	NM_017866.6(TMEM70):c.211-12C>T	TMEM70	Single nucleotide variant (intron variant)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2725623	NM_017866.6(TMEM70):c.177C>T (p.Ala59=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2718811	NM_017866.6(TMEM70):c.360A>G (p.Thr120=)	TMEM70	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2697923	NM_017866.6(TMEM70):c.27G>T (p.Pro9=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2437119	NM_017866.6(TMEM70):c.354C>G (p.Gly118=)	TMEM70	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2426365	NC_000008.10:g.(?_74890971)_(74891116_?)del	TMEM70	Deletion	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely pathogenic
Select item 2420367	NM_017866.6(TMEM70):c.502A>G (p.Ile168Val)	TMEM70 (I168V)	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2417835	NM_017866.6(TMEM70):c.317-6A>G	TMEM70	Single nucleotide variant (intron variant)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2415619	NM_017866.6(TMEM70):c.181C>A (p.Arg61Ser)	TMEM70 (R61S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2200356	NM_017866.6(TMEM70):c.190C>T (p.Arg64Trp)	TMEM70 (R64W)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2196249	NM_017866.6(TMEM70):c.189C>T (p.Leu63=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2189749	NM_017866.6(TMEM70):c.211-2A>G	TMEM70	Single nucleotide variant (splice acceptor variant)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely pathogenic
Select item 2185709	NM_017866.6(TMEM70):c.429A>T (p.Ile143=)	TMEM70	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2184534	NM_017866.6(TMEM70):c.272A>T (p.Asp91Val)	TMEM70 (D91V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2174984	NM_017866.6(TMEM70):c.102_116dup (p.Ser40_Ser41insValSerArgAlaSer)	TMEM70	Duplication (inframe_insertion +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2171364	NM_017866.6(TMEM70):c.215C>T (p.Pro72Leu)	TMEM70 (P72L)	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2160943	NM_017866.6(TMEM70):c.715G>C (p.Asp239His)	TMEM70 (D239H)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2160090	NM_017866.6(TMEM70):c.155G>C (p.Trp52Ser)	TMEM70 (W52S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2159706	NM_017866.6(TMEM70):c.426C>T (p.Ile142=)	TMEM70	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2153484	NM_017866.6(TMEM70):c.211-6_220del	TMEM70	Deletion (splice acceptor variant)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely pathogenic
Select item 2148038	NM_017866.6(TMEM70):c.537T>C (p.Tyr179=)	TMEM70	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2147946	NM_017866.6(TMEM70):c.211A>G (p.Ile71Val)	TMEM70 (I71V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2145135	NM_017866.6(TMEM70):c.773A>G (p.Asp258Gly)	TMEM70 (D258G)	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2144922	NM_017866.6(TMEM70):c.288T>C (p.Tyr96=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2141216	NM_017866.6(TMEM70):c.188T>G (p.Leu63Arg)	TMEM70 (L63R)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2138392	NM_017866.6(TMEM70):c.30_31dup (p.Ala11fs)	TMEM70 (A11fs)	Duplication (frameshift variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GPathogenic
Select item 2133332	NM_017866.6(TMEM70):c.777C>A (p.Asp259Glu)	TMEM70 (D259E)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2123547	NM_017866.6(TMEM70):c.22_23delinsCC (p.Ser8Pro)	TMEM70 (S8P)	Indel (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2111712	NM_017866.6(TMEM70):c.144_167del (p.Val49_Pro56del)	TMEM70	Deletion (inframe_deletion +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2108210	NM_017866.6(TMEM70):c.415C>T (p.Pro139Ser)	TMEM70 (P139S)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2097419	NM_017866.6(TMEM70):c.293G>A (p.Gly98Asp)	TMEM70 (G98D)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2094923	NM_017866.6(TMEM70):c.315T>G (p.Phe105Leu)	TMEM70 (F105L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2093554	NM_017866.6(TMEM70):c.392C>G (p.Ala131Gly)	TMEM70 (A131G)	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2085324	NM_017866.6(TMEM70):c.492del (p.Gly165fs)	TMEM70 (G165fs)	Deletion (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GPathogenic
Select item 2078824	NM_017866.6(TMEM70):c.697A>T (p.Ile233Phe)	TMEM70 (I233F)	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2078723	NM_017866.6(TMEM70):c.153C>T (p.Gly51=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2078440	NM_017866.6(TMEM70):c.308C>T (p.Ala103Val)	TMEM70 (A103V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2073056	NM_017866.6(TMEM70):c.614C>T (p.Ala205Val)	TMEM70 (A205V)	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2072975	NM_017866.6(TMEM70):c.515A>G (p.His172Arg)	TMEM70 (H172R)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 2069522	NM_017866.6(TMEM70):c.686G>A (p.Arg229His)	TMEM70 (R229H)	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2067125	NM_017866.6(TMEM70):c.210+17C>T	LOC130000614, TMEM70	Single nucleotide variant (intron variant)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2058345	NM_017866.6(TMEM70):c.718A>T (p.Lys240Ter)	TMEM70 (K240*)	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2056760	NM_017866.6(TMEM70):c.573G>A (p.Thr191=)	TMEM70	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2054438	NM_017866.6(TMEM70):c.241T>G (p.Phe81Val)	TMEM70 (F81V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2045681	NM_017866.6(TMEM70):c.81C>T (p.Ala27=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2043204	NM_017866.6(TMEM70):c.296A>G (p.Asn99Ser)	TMEM70 (N99S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2041698	NM_017866.6(TMEM70):c.693C>G (p.Asp231Glu)	TMEM70 (D231E)	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2041392	NM_017866.6(TMEM70):c.709G>T (p.Gly237Cys)	TMEM70 (G237C)	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 2008442	NM_017866.6(TMEM70):c.393T>C (p.Ala131=)	TMEM70	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2007937	NM_017866.6(TMEM70):c.66A>G (p.Ala22=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 2005499	NM_017866.6(TMEM70):c.227A>G (p.Glu76Gly)	TMEM70 (E76G)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1996095	NM_017866.6(TMEM70):c.618A>C (p.Lys206Asn)	TMEM70 (K206N)	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1989811	NM_017866.6(TMEM70):c.501C>G (p.Val167=)	TMEM70	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 1985501	NM_017866.6(TMEM70):c.336T>C (p.Tyr112=)	TMEM70	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 1985309	NM_017866.6(TMEM70):c.57G>C (p.Arg19Ser)	TMEM70 (R19S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1979649	NM_017866.6(TMEM70):c.106G>A (p.Val36Ile)	TMEM70 (V36I)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1976515	NM_017866.6(TMEM70):c.129C>T (p.Ser43=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 1971606	NM_017866.6(TMEM70):c.397T>G (p.Ser133Ala)	TMEM70 (S133A)	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1971568	NM_017866.6(TMEM70):c.211-13C>T	TMEM70	Single nucleotide variant (intron variant)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 1963247	NM_017866.6(TMEM70):c.26C>T (p.Pro9Leu)	TMEM70 (P9L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1957636	NM_017866.6(TMEM70):c.180G>C (p.Ala60=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 1951747	NM_017866.6(TMEM70):c.505C>A (p.Arg169=)	TMEM70	Single nucleotide variant (synonymous variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1935003	NM_017866.6(TMEM70):c.75G>A (p.Ala25=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 1925403	NM_017866.6(TMEM70):c.572C>T (p.Thr191Met)	TMEM70 (T191M)	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1921905	NM_017866.6(TMEM70):c.459G>C (p.Val153=)	TMEM70	Single nucleotide variant (synonymous variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 1921148	NM_017866.6(TMEM70):c.67T>G (p.Leu23Val)	TMEM70 (L23V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1916186	NM_017866.6(TMEM70):c.588C>G (p.His196Gln)	TMEM70 (H196Q)	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 +1 more	GUncertain significance
Select item 1910113	NM_017866.6(TMEM70):c.16T>C (p.Leu6=)	TMEM70	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 1907645	NM_017866.6(TMEM70):c.135T>C (p.Pro45=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 1903726	NM_017866.6(TMEM70):c.572C>G (p.Thr191Arg)	TMEM70 (T191R)	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1900244	NM_017866.6(TMEM70):c.497_498del (p.Tyr166fs)	TMEM70 (Y166fs)	Deletion (frameshift variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GPathogenic
Select item 1897273	NM_017866.6(TMEM70):c.43C>T (p.Pro15Ser)	TMEM70 (P15S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1896475	NM_017866.6(TMEM70):c.418A>G (p.Ile140Val)	TMEM70 (I140V)	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1896086	NM_017866.6(TMEM70):c.91G>A (p.Gly31Ser)	TMEM70 (G31S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1714594	NM_017866.6(TMEM70):c.532A>G (p.Thr178Ala)	TMEM70 (T178A)	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1714116	NM_017866.6(TMEM70):c.779A>G (p.Lys260Arg)	TMEM70 (K260R)	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1713449	NM_017866.6(TMEM70):c.380C>G (p.Thr127Arg)	TMEM70 (T127R)	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GUncertain significance
Select item 1673414	NM_017866.6(TMEM70):c.258T>G (p.Ser86=)	TMEM70	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 1671677	NM_017866.6(TMEM70):c.211-18T>C	TMEM70	Single nucleotide variant (intron variant)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign
Select item 1660187	NM_017866.6(TMEM70):c.211-11T>C	TMEM70	Single nucleotide variant (intron variant)	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	GLikely benign

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