ClinVar for MedGen (Select 481329) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24371191.	NM_017866.6(TMEM70):c.354C>G (p.Gly118=) GRCh37: Chr8:74893427 GRCh38: Chr8:73981192	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 24263652.	NC_000008.10:g.(?_74890971)_(74891116_?)del GRCh37: Chr8:74890971-74891116	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely pathogenic (May 27, 2022)	criteria provided, single submitter
Select item 24203673.	NM_017866.6(TMEM70):c.502A>G (p.Ile168Val) GRCh37: Chr8:74893575 GRCh38: Chr8:73981340	TMEM70	I168V	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 24178354.	NM_017866.6(TMEM70):c.317-6A>G GRCh37: Chr8:74893384 GRCh38: Chr8:73981149	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 24156195.	NM_017866.6(TMEM70):c.181C>A (p.Arg61Ser) GRCh37: Chr8:74888697 GRCh38: Chr8:73976462	TMEM70	R61S	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 22003566.	NM_017866.6(TMEM70):c.190C>T (p.Arg64Trp) GRCh37: Chr8:74888706 GRCh38: Chr8:73976471	TMEM70	R64W	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 21962497.	NM_017866.6(TMEM70):c.189C>T (p.Leu63=) GRCh37: Chr8:74888705 GRCh38: Chr8:73976470	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 21897498.	NM_017866.6(TMEM70):c.211-2A>G GRCh37: Chr8:74890989 GRCh38: Chr8:73978754	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 21857099.	NM_017866.6(TMEM70):c.429A>T (p.Ile143=) GRCh37: Chr8:74893502 GRCh38: Chr8:73981267	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 218453410.	NM_017866.6(TMEM70):c.272A>T (p.Asp91Val) GRCh37: Chr8:74891052 GRCh38: Chr8:73978817	TMEM70	D91V	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 217498411.	NM_017866.6(TMEM70):c.102_116dup (p.Ser40_Ser41insValSerArgAlaSer) GRCh37: Chr8:74888610-74888611 GRCh38: Chr8:73976375-73976376	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 217136412.	NM_017866.6(TMEM70):c.215C>T (p.Pro72Leu) GRCh37: Chr8:74890995 GRCh38: Chr8:73978760	TMEM70	P72L	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 216094313.	NM_017866.6(TMEM70):c.715G>C (p.Asp239His) GRCh37: Chr8:74893788 GRCh38: Chr8:73981553	TMEM70	D239H	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 216009014.	NM_017866.6(TMEM70):c.155G>C (p.Trp52Ser) GRCh37: Chr8:74888671 GRCh38: Chr8:73976436	TMEM70	W52S	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 215970615.	NM_017866.6(TMEM70):c.426C>T (p.Ile142=) GRCh37: Chr8:74893499 GRCh38: Chr8:73981264	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 215348416.	NM_017866.6(TMEM70):c.211-6_220del GRCh37: Chr8:74890974-74890989 GRCh38: Chr8:73978739-73978754	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely pathogenic (Aug 21, 2022)	criteria provided, single submitter
Select item 214803817.	NM_017866.6(TMEM70):c.537T>C (p.Tyr179=) GRCh37: Chr8:74893610 GRCh38: Chr8:73981375	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 214794618.	NM_017866.6(TMEM70):c.211A>G (p.Ile71Val) GRCh37: Chr8:74890991 GRCh38: Chr8:73978756	TMEM70	I71V	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 214513519.	NM_017866.6(TMEM70):c.773A>G (p.Asp258Gly) GRCh37: Chr8:74893846 GRCh38: Chr8:73981611	TMEM70	D258G	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 214492220.	NM_017866.6(TMEM70):c.288T>C (p.Tyr96=) GRCh37: Chr8:74891068 GRCh38: Chr8:73978833	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 214121621.	NM_017866.6(TMEM70):c.188T>G (p.Leu63Arg) GRCh37: Chr8:74888704 GRCh38: Chr8:73976469	TMEM70	L63R	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 213839222.	NM_017866.6(TMEM70):c.30_31dup (p.Ala11fs) GRCh37: Chr8:74888544-74888545 GRCh38: Chr8:73976309-73976310	TMEM70	A11fs	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Pathogenic (Aug 25, 2022)	criteria provided, single submitter
Select item 213333223.	NM_017866.6(TMEM70):c.777C>A (p.Asp259Glu) GRCh37: Chr8:74893850 GRCh38: Chr8:73981615	TMEM70	D259E	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 212354724.	NM_017866.6(TMEM70):c.22_23delinsCC (p.Ser8Pro) GRCh37: Chr8:74888538-74888539 GRCh38: Chr8:73976303-73976304	TMEM70	S8P	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 211171225.	NM_017866.6(TMEM70):c.144_167del (p.Val49_Pro56del) GRCh37: Chr8:74888653-74888676 GRCh38: Chr8:73976418-73976441	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 210821026.	NM_017866.6(TMEM70):c.415C>T (p.Pro139Ser) GRCh37: Chr8:74893488 GRCh38: Chr8:73981253	TMEM70	P139S	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 209741927.	NM_017866.6(TMEM70):c.293G>A (p.Gly98Asp) GRCh37: Chr8:74891073 GRCh38: Chr8:73978838	TMEM70	G98D	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Feb 13, 2022)	criteria provided, single submitter
Select item 209492328.	NM_017866.6(TMEM70):c.315T>G (p.Phe105Leu) GRCh37: Chr8:74891095 GRCh38: Chr8:73978860	TMEM70	F105L	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 209355429.	NM_017866.6(TMEM70):c.392C>G (p.Ala131Gly) GRCh37: Chr8:74893465 GRCh38: Chr8:73981230	TMEM70	A131G	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 208532430.	NM_017866.6(TMEM70):c.492del (p.Gly165fs) GRCh37: Chr8:74893562 GRCh38: Chr8:73981327	TMEM70	G165fs	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Pathogenic (Sep 27, 2022)	criteria provided, single submitter
Select item 207882431.	NM_017866.6(TMEM70):c.697A>T (p.Ile233Phe) GRCh37: Chr8:74893770 GRCh38: Chr8:73981535	TMEM70	I233F	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 207872332.	NM_017866.6(TMEM70):c.153C>T (p.Gly51=) GRCh37: Chr8:74888669 GRCh38: Chr8:73976434	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Jan 7, 2022)	criteria provided, single submitter
Select item 207844033.	NM_017866.6(TMEM70):c.308C>T (p.Ala103Val) GRCh37: Chr8:74891088 GRCh38: Chr8:73978853	TMEM70	A103V	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 207305634.	NM_017866.6(TMEM70):c.614C>T (p.Ala205Val) GRCh37: Chr8:74893687 GRCh38: Chr8:73981452	TMEM70	A205V	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 207297535.	NM_017866.6(TMEM70):c.515A>G (p.His172Arg) GRCh37: Chr8:74893588 GRCh38: Chr8:73981353	TMEM70	H172R	not provided, Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 206952236.	NM_017866.6(TMEM70):c.686G>A (p.Arg229His) GRCh37: Chr8:74893759 GRCh38: Chr8:73981524	TMEM70	R229H	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 206712537.	NM_017866.6(TMEM70):c.210+17C>T GRCh37: Chr8:74888743 GRCh38: Chr8:73976508	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 205834538.	NM_017866.6(TMEM70):c.718A>T (p.Lys240Ter) GRCh37: Chr8:74893791 GRCh38: Chr8:73981556	TMEM70	K240*	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 205676039.	NM_017866.6(TMEM70):c.573G>A (p.Thr191=) GRCh37: Chr8:74893646 GRCh38: Chr8:73981411	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 205443840.	NM_017866.6(TMEM70):c.241T>G (p.Phe81Val) GRCh37: Chr8:74891021 GRCh38: Chr8:73978786	TMEM70	F81V	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 204568141.	NM_017866.6(TMEM70):c.81C>T (p.Ala27=) GRCh37: Chr8:74888597 GRCh38: Chr8:73976362	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Dec 17, 2021)	criteria provided, single submitter
Select item 204320442.	NM_017866.6(TMEM70):c.296A>G (p.Asn99Ser) GRCh37: Chr8:74891076 GRCh38: Chr8:73978841	TMEM70	N99S	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 204169843.	NM_017866.6(TMEM70):c.693C>G (p.Asp231Glu) GRCh37: Chr8:74893766 GRCh38: Chr8:73981531	TMEM70	D231E	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 204139244.	NM_017866.6(TMEM70):c.709G>T (p.Gly237Cys) GRCh37: Chr8:74893782 GRCh38: Chr8:73981547	TMEM70	G237C	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 200844245.	NM_017866.6(TMEM70):c.393T>C (p.Ala131=) GRCh37: Chr8:74893466 GRCh38: Chr8:73981231	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 200793746.	NM_017866.6(TMEM70):c.66A>G (p.Ala22=) GRCh37: Chr8:74888582 GRCh38: Chr8:73976347	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 200549947.	NM_017866.6(TMEM70):c.227A>G (p.Glu76Gly) GRCh37: Chr8:74891007 GRCh38: Chr8:73978772	TMEM70	E76G	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 199609548.	NM_017866.6(TMEM70):c.618A>C (p.Lys206Asn) GRCh37: Chr8:74893691 GRCh38: Chr8:73981456	TMEM70	K206N	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 198981149.	NM_017866.6(TMEM70):c.501C>G (p.Val167=) GRCh37: Chr8:74893574 GRCh38: Chr8:73981339	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 198550150.	NM_017866.6(TMEM70):c.336T>C (p.Tyr112=) GRCh37: Chr8:74893409 GRCh38: Chr8:73981174	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 198530951.	NM_017866.6(TMEM70):c.57G>C (p.Arg19Ser) GRCh37: Chr8:74888573 GRCh38: Chr8:73976338	TMEM70	R19S	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 197964952.	NM_017866.6(TMEM70):c.106G>A (p.Val36Ile) GRCh37: Chr8:74888622 GRCh38: Chr8:73976387	TMEM70	V36I	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 197651553.	NM_017866.6(TMEM70):c.129C>T (p.Ser43=) GRCh37: Chr8:74888645 GRCh38: Chr8:73976410	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 197160654.	NM_017866.6(TMEM70):c.397T>G (p.Ser133Ala) GRCh37: Chr8:74893470 GRCh38: Chr8:73981235	TMEM70	S133A	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 197156855.	NM_017866.6(TMEM70):c.211-13C>T GRCh37: Chr8:74890978 GRCh38: Chr8:73978743	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Oct 6, 2022)	criteria provided, single submitter
Select item 196324756.	NM_017866.6(TMEM70):c.26C>T (p.Pro9Leu) GRCh37: Chr8:74888542 GRCh38: Chr8:73976307	TMEM70	P9L	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 195763657.	NM_017866.6(TMEM70):c.180G>C (p.Ala60=) GRCh37: Chr8:74888696 GRCh38: Chr8:73976461	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Jul 2, 2022)	criteria provided, single submitter
Select item 195174758.	NM_017866.6(TMEM70):c.505C>A (p.Arg169=) GRCh37: Chr8:74893578 GRCh38: Chr8:73981343	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Feb 7, 2022)	criteria provided, single submitter
Select item 193500359.	NM_017866.6(TMEM70):c.75G>A (p.Ala25=) GRCh37: Chr8:74888591 GRCh38: Chr8:73976356	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 192540360.	NM_017866.6(TMEM70):c.572C>T (p.Thr191Met) GRCh37: Chr8:74893645 GRCh38: Chr8:73981410	TMEM70	T191M	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 192190561.	NM_017866.6(TMEM70):c.459G>C (p.Val153=) GRCh37: Chr8:74893532 GRCh38: Chr8:73981297	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 192114862.	NM_017866.6(TMEM70):c.67T>G (p.Leu23Val) GRCh37: Chr8:74888583 GRCh38: Chr8:73976348	TMEM70	L23V	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 191618663.	NM_017866.6(TMEM70):c.588C>G (p.His196Gln) GRCh37: Chr8:74893661 GRCh38: Chr8:73981426	TMEM70	H196Q	Inborn genetic diseases, Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 191011364.	NM_017866.6(TMEM70):c.16T>C (p.Leu6=) GRCh37: Chr8:74888532 GRCh38: Chr8:73976297	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 190764565.	NM_017866.6(TMEM70):c.135T>C (p.Pro45=) GRCh37: Chr8:74888651 GRCh38: Chr8:73976416	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 190372666.	NM_017866.6(TMEM70):c.572C>G (p.Thr191Arg) GRCh37: Chr8:74893645 GRCh38: Chr8:73981410	TMEM70	T191R	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Feb 1, 2022)	criteria provided, single submitter
Select item 190024467.	NM_017866.6(TMEM70):c.497_498del (p.Tyr166fs) GRCh37: Chr8:74893569-74893570 GRCh38: Chr8:73981334-73981335	TMEM70	Y166fs	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Pathogenic (May 1, 2022)	criteria provided, single submitter
Select item 189727368.	NM_017866.6(TMEM70):c.43C>T (p.Pro15Ser) GRCh37: Chr8:74888559 GRCh38: Chr8:73976324	TMEM70	P15S	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 189647569.	NM_017866.6(TMEM70):c.418A>G (p.Ile140Val) GRCh37: Chr8:74893491 GRCh38: Chr8:73981256	TMEM70	I140V	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 189608670.	NM_017866.6(TMEM70):c.91G>A (p.Gly31Ser) GRCh37: Chr8:74888607 GRCh38: Chr8:73976372	TMEM70	G31S	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 171459471.	NM_017866.6(TMEM70):c.532A>G (p.Thr178Ala) GRCh37: Chr8:74893605 GRCh38: Chr8:73981370	TMEM70	T178A	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 171411672.	NM_017866.6(TMEM70):c.779A>G (p.Lys260Arg) GRCh37: Chr8:74893852 GRCh38: Chr8:73981617	TMEM70	K260R	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 171344973.	NM_017866.6(TMEM70):c.380C>G (p.Thr127Arg) GRCh37: Chr8:74893453 GRCh38: Chr8:73981218	TMEM70	T127R	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 167341474.	NM_017866.6(TMEM70):c.258T>G (p.Ser86=) GRCh37: Chr8:74891038 GRCh38: Chr8:73978803	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Oct 8, 2021)	criteria provided, single submitter
Select item 167167775.	NM_017866.6(TMEM70):c.211-18T>C GRCh37: Chr8:74890973 GRCh38: Chr8:73978738	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 166018776.	NM_017866.6(TMEM70):c.211-11T>C GRCh37: Chr8:74890980 GRCh38: Chr8:73978745	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 164158977.	NM_017866.6(TMEM70):c.6G>C (p.Leu2=) GRCh37: Chr8:74888522 GRCh38: Chr8:73976287	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 163485778.	NM_017866.6(TMEM70):c.183C>T (p.Arg61=) GRCh37: Chr8:74888699 GRCh38: Chr8:73976464	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Aug 31, 2021)	criteria provided, single submitter
Select item 162575179.	NM_017866.6(TMEM70):c.211-14C>T GRCh37: Chr8:74890977 GRCh38: Chr8:73978742	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Aug 3, 2021)	criteria provided, single submitter
Select item 162426380.	NM_017866.6(TMEM70):c.150C>T (p.Ala50=) GRCh37: Chr8:74888666 GRCh38: Chr8:73976431	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Aug 14, 2022)	criteria provided, single submitter
Select item 162170681.	NM_017866.6(TMEM70):c.432C>T (p.Phe144=) GRCh37: Chr8:74893505 GRCh38: Chr8:73981270	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Sep 1, 2021)	criteria provided, single submitter
Select item 162003082.	NM_017866.6(TMEM70):c.765G>A (p.Arg255=) GRCh37: Chr8:74893838 GRCh38: Chr8:73981603	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Oct 14, 2021)	criteria provided, single submitter
Select item 161817683.	NM_017866.6(TMEM70):c.67T>C (p.Leu23=) GRCh37: Chr8:74888583 GRCh38: Chr8:73976348	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Nov 20, 2021)	criteria provided, single submitter
Select item 161601184.	NM_017866.6(TMEM70):c.124A>G (p.Ser42Gly) GRCh37: Chr8:74888640 GRCh38: Chr8:73976405	TMEM70	S42G	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 159664985.	NM_017866.6(TMEM70):c.210+18T>G GRCh37: Chr8:74888744 GRCh38: Chr8:73976509	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Jun 8, 2021)	criteria provided, single submitter
Select item 159488586.	NM_017866.6(TMEM70):c.317-12T>G GRCh37: Chr8:74893378 GRCh38: Chr8:73981143	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Jul 31, 2022)	criteria provided, single submitter
Select item 158634287.	NM_017866.6(TMEM70):c.316+14G>A GRCh37: Chr8:74891110 GRCh38: Chr8:73978875	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 158510488.	NM_017866.6(TMEM70):c.75G>T (p.Ala25=) GRCh37: Chr8:74888591 GRCh38: Chr8:73976356	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Sep 15, 2021)	criteria provided, single submitter
Select item 157638889.	NM_017866.6(TMEM70):c.522C>T (p.Ala174=) GRCh37: Chr8:74893595 GRCh38: Chr8:73981360	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (May 4, 2021)	criteria provided, single submitter
Select item 157171490.	NM_017866.6(TMEM70):c.558T>C (p.Ala186=) GRCh37: Chr8:74893631 GRCh38: Chr8:73981396	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 157049891.	NM_017866.6(TMEM70):c.36C>A (p.Val12=) GRCh37: Chr8:74888552 GRCh38: Chr8:73976317	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 156347092.	NM_017866.6(TMEM70):c.213C>A (p.Ile71=) GRCh37: Chr8:74890993 GRCh38: Chr8:73978758	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Apr 13, 2021)	criteria provided, single submitter
Select item 156300993.	NM_017866.6(TMEM70):c.405T>C (p.Ser135=) GRCh37: Chr8:74893478 GRCh38: Chr8:73981243	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (May 31, 2021)	criteria provided, single submitter
Select item 156076994.	NM_017866.6(TMEM70):c.117G>A (p.Ala39=) GRCh37: Chr8:74888633 GRCh38: Chr8:73976398	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 155068995.	NM_017866.6(TMEM70):c.84G>T (p.Ala28=) GRCh37: Chr8:74888600 GRCh38: Chr8:73976365	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Aug 23, 2021)	criteria provided, single submitter
Select item 155065796.	NM_017866.6(TMEM70):c.744A>G (p.Glu248=) GRCh37: Chr8:74893817 GRCh38: Chr8:73981582	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Oct 16, 2021)	criteria provided, single submitter
Select item 152897597.	NM_017866.6(TMEM70):c.211-19A>G GRCh37: Chr8:74890972 GRCh38: Chr8:73978737	TMEM70		Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 152431198.	NM_017866.6(TMEM70):c.359del (p.Thr120fs) GRCh37: Chr8:74893432 GRCh38: Chr8:73981197	TMEM70	T120fs	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Pathogenic (Sep 13, 2022)	criteria provided, single submitter
Select item 151713399.	NM_017866.6(TMEM70):c.407T>C (p.Val136Ala) GRCh37: Chr8:74893480 GRCh38: Chr8:73981245	TMEM70	V136A	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 1511241100.	NM_017866.6(TMEM70):c.763C>T (p.Arg255Trp) GRCh37: Chr8:74893836 GRCh38: Chr8:73981601	TMEM70	R255W	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	Uncertain significance (Mar 4, 2022)	criteria provided, multiple submitters, no conflicts

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