MTPAP[gene] and "single gene"[properties] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status	Accession
Select item 11968951.	NM_018109.4(MTPAP):c.*146G>A GRCh37: Chr10:30602392 GRCh38: Chr10:30313463	MTPAP		not provided	Likely benign (Jul 7, 2018)	criteria provided, single submitter	VCV001196895
Select item 14294382.	NM_018109.4(MTPAP):c.1736G>A (p.Ser579Asn) GRCh37: Chr10:30602551 GRCh38: Chr10:30313622	MTPAP	S579N	not provided	Uncertain significance (Nov 20, 2021)	criteria provided, single submitter	VCV001429438
Select item 10280883.	NM_018109.4(MTPAP):c.1673T>C (p.Leu558Pro) GRCh37: Chr10:30602614 GRCh38: Chr10:30313685	MTPAP	L558P	Spastic ataxia 4	Uncertain significance (Feb 23, 2020)	criteria provided, single submitter	VCV001028088
Select item 9946844.	NM_018109.4(MTPAP):c.1667A>C (p.Asn556Thr) GRCh37: Chr10:30602620 GRCh38: Chr10:30313691	MTPAP	N556T	not provided	Uncertain significance (Mar 22, 2020)	criteria provided, single submitter	VCV000994684
Select item 4477425.	NM_018109.4(MTPAP):c.1643A>C (p.Lys548Thr) GRCh37: Chr10:30602644 GRCh38: Chr10:30313715	MTPAP	K548T	not specified, not provided	Uncertain significance (Oct 16, 2021)	criteria provided, multiple submitters, no conflicts	VCV000447742
Select item 5069306.	NM_018109.4(MTPAP):c.1640A>G (p.Asn547Ser) GRCh37: Chr10:30602647 GRCh38: Chr10:30313718	MTPAP	N547S	not specified	Likely benign (Jan 24, 2017)	criteria provided, single submitter	VCV000506930
Select item 3781807.	NM_018109.4(MTPAP):c.1637G>A (p.Ser546Asn) GRCh37: Chr10:30602650 GRCh38: Chr10:30313721	MTPAP	S546N	not specified, not provided	Benign/Likely benign (Dec 15, 2021)	criteria provided, multiple submitters, no conflicts	VCV000378180
Select item 4477418.	NM_018109.4(MTPAP):c.1607C>G (p.Pro536Arg) GRCh37: Chr10:30602680 GRCh38: Chr10:30313751	MTPAP	P536R	not specified, not provided	Conflicting interpretations of pathogenicity (Dec 16, 2021)	criteria provided, conflicting interpretations	VCV000447741
Select item 13592139.	NM_018109.4(MTPAP):c.1565A>G (p.Asn522Ser) GRCh37: Chr10:30602722 GRCh38: Chr10:30313793	MTPAP	N522S	not provided	Uncertain significance (Nov 12, 2021)	criteria provided, single submitter	VCV001359213
Select item 149423010.	NM_018109.4(MTPAP):c.1550C>T (p.Pro517Leu) GRCh37: Chr10:30602737 GRCh38: Chr10:30313808	MTPAP	P517L	not provided	Uncertain significance (Oct 25, 2021)	criteria provided, single submitter	VCV001494230
Select item 142970511.	NM_018109.4(MTPAP):c.1546C>G (p.Arg516Gly) GRCh37: Chr10:30602741 GRCh38: Chr10:30313812	MTPAP	R516G	not provided	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter	VCV001429705
Select item 144771612.	NM_018109.4(MTPAP):c.1544A>C (p.Asp515Ala) GRCh37: Chr10:30602743 GRCh38: Chr10:30313814	MTPAP	D515A	not provided	Uncertain significance (Oct 19, 2021)	criteria provided, single submitter	VCV001447716
Select item 136528513.	NM_018109.4(MTPAP):c.1533G>C (p.Gln511His) GRCh37: Chr10:30602754 GRCh38: Chr10:30313825	MTPAP	Q511H	not provided	Uncertain significance (Dec 1, 2021)	criteria provided, single submitter	VCV001365285
Select item 138602214.	NM_018109.4(MTPAP):c.1491A>C (p.Lys497Asn) GRCh37: Chr10:30602796 GRCh38: Chr10:30313867	MTPAP	K497N	not provided	Uncertain significance (Oct 11, 2021)	criteria provided, single submitter	VCV001386022
Select item 58615715.	NM_018109.4(MTPAP):c.1485G>A (p.Leu495=) GRCh37: Chr10:30602802 GRCh38: Chr10:30313873	MTPAP		not provided	Benign (Nov 30, 2021)	criteria provided, multiple submitters, no conflicts	VCV000586157
Select item 132625516.	NM_018109.4(MTPAP):c.1484T>G (p.Leu495Arg) GRCh37: Chr10:30602803 GRCh38: Chr10:30313874	MTPAP	L495R	not provided	Likely pathogenic (Nov 19, 2021)	criteria provided, single submitter	VCV001326255
Select item 37434117.	NM_018109.4(MTPAP):c.1468G>T (p.Val490Leu) GRCh37: Chr10:30602819 GRCh38: Chr10:30313890	MTPAP	V490L	Spastic ataxia 4	Uncertain significance (Jul 1, 2015)	no assertion criteria provided	VCV000374341
Select item 102749418.	NM_018109.4(MTPAP):c.1464A>C (p.Lys488Asn) GRCh37: Chr10:30602823 GRCh38: Chr10:30313894	MTPAP	K488N	Spastic ataxia	Likely pathogenic (Jul 12, 2021)	criteria provided, single submitter	VCV001027494
Select item 135585119.	NM_018109.4(MTPAP):c.1445C>T (p.Thr482Ile) GRCh37: Chr10:30602842 GRCh38: Chr10:30313913	MTPAP	T482I	not provided	Uncertain significance (Nov 8, 2021)	criteria provided, single submitter	VCV001355851
Select item 1839120.	NM_018109.4(MTPAP):c.1432A>G (p.Asn478Asp) GRCh37: Chr10:30602855 GRCh38: Chr10:30313926	MTPAP	N478D	Spastic ataxia 4	Pathogenic (Dec 1, 2014)	no assertion criteria provided	VCV000018391
Select item 44774021.	NM_018109.4(MTPAP):c.1393G>A (p.Glu465Lys) GRCh37: Chr10:30602894 GRCh38: Chr10:30313965	MTPAP	E465K	not specified	Uncertain significance (May 23, 2017)	criteria provided, single submitter	VCV000447740
Select item 99465122.	NM_018109.4(MTPAP):c.1387-1G>A GRCh37: Chr10:30602901 GRCh38: Chr10:30313972	MTPAP		not provided	Uncertain significance (Nov 5, 2019)	criteria provided, single submitter	VCV000994651
Select item 121600223.	NM_018109.4(MTPAP):c.1387-90A>G GRCh37: Chr10:30602990 GRCh38: Chr10:30314061	MTPAP		not provided	Likely benign (Oct 5, 2018)	criteria provided, single submitter	VCV001216002
Select item 120297424.	NM_018109.4(MTPAP):c.1387-97G>A GRCh37: Chr10:30602997 GRCh38: Chr10:30314068	MTPAP		not provided	Likely benign (Jun 26, 2018)	criteria provided, single submitter	VCV001202974
Select item 67319425.	NM_018109.4(MTPAP):c.1387-295A>G GRCh37: Chr10:30603195 GRCh38: Chr10:30314266	MTPAP		not provided	Likely benign (Jun 14, 2018)	criteria provided, single submitter	VCV000673194
Select item 67331526.	NM_018109.4(MTPAP):c.1386+241C>T GRCh37: Chr10:30604651 GRCh38: Chr10:30315722	MTPAP		not provided	Likely benign (Jun 14, 2018)	criteria provided, single submitter	VCV000673315
Select item 119534027.	NM_018109.4(MTPAP):c.1386+131G>A GRCh37: Chr10:30604761 GRCh38: Chr10:30315832	MTPAP		not provided	Likely benign (Dec 5, 2018)	criteria provided, single submitter	VCV001195340
Select item 129425028.	NM_018109.4(MTPAP):c.1386+114del GRCh37: Chr10:30604778 GRCh38: Chr10:30315849	MTPAP		not provided	Benign (Aug 3, 2018)	criteria provided, single submitter	VCV001294250
Select item 129525829.	NM_018109.4(MTPAP):c.1386+107T>C GRCh37: Chr10:30604785 GRCh38: Chr10:30315856	MTPAP		not provided	Benign (Jun 29, 2018)	criteria provided, single submitter	VCV001295258
Select item 163248430.	NM_018109.4(MTPAP):c.1386+18A>G GRCh37: Chr10:30604874 GRCh38: Chr10:30315945	MTPAP		not provided	Likely benign (Nov 28, 2021)	criteria provided, single submitter	VCV001632484
Select item 50683231.	NM_018109.4(MTPAP):c.1386+6T>C GRCh37: Chr10:30604886 GRCh38: Chr10:30315957	MTPAP		not provided	Likely benign (Feb 25, 2020)	criteria provided, single submitter	VCV000506832
Select item 76108732.	NM_018109.4(MTPAP):c.1359C>T (p.Phe453=) GRCh37: Chr10:30604919 GRCh38: Chr10:30315990	MTPAP		not provided	Likely benign (Oct 1, 2021)	criteria provided, single submitter	VCV000761087
Select item 99465033.	NM_018109.4(MTPAP):c.1353T>C (p.Phe451=) GRCh37: Chr10:30604925 GRCh38: Chr10:30315996	MTPAP		not provided	Likely benign (May 8, 2020)	criteria provided, single submitter	VCV000994650
Select item 130935534.	NM_018109.4(MTPAP):c.1344T>G (p.Phe448Leu) GRCh37: Chr10:30604934 GRCh38: Chr10:30316005	MTPAP	F448L	not provided	Uncertain significance (Oct 9, 2019)	criteria provided, single submitter	VCV001309355
Select item 80505435.	NM_018109.4(MTPAP):c.1325A>G (p.Lys442Arg) GRCh37: Chr10:30604953 GRCh38: Chr10:30316024	MTPAP	K442R	not provided	Uncertain significance (Aug 11, 2020)	criteria provided, single submitter	VCV000805054
Select item 161590936.	NM_018109.4(MTPAP):c.1320A>G (p.Leu440=) GRCh37: Chr10:30604958 GRCh38: Chr10:30316029	MTPAP		not provided	Likely benign (Nov 7, 2021)	criteria provided, single submitter	VCV001615909
Select item 51509637.	NM_018109.4(MTPAP):c.1313-3C>T GRCh37: Chr10:30604968 GRCh38: Chr10:30316039	MTPAP		not specified, not provided	Conflicting interpretations of pathogenicity (Nov 23, 2021)	criteria provided, conflicting interpretations	VCV000515096
Select item 136467738.	NM_018109.4(MTPAP):c.1312+5G>C GRCh37: Chr10:30605042 GRCh38: Chr10:30316113	MTPAP		not provided	Uncertain significance (Oct 27, 2021)	criteria provided, single submitter	VCV001364677
Select item 26100439.	NM_018109.4(MTPAP):c.1312+3A>G GRCh37: Chr10:30605044 GRCh38: Chr10:30316115	MTPAP		not provided, not specified	Benign/Likely benign (Nov 22, 2021)	criteria provided, multiple submitters, no conflicts	VCV000261004
Select item 37817940.	NM_018109.4(MTPAP):c.1278T>C (p.Ser426=) GRCh37: Chr10:30605081 GRCh38: Chr10:30316152	MTPAP		not provided, not specified	Benign/Likely benign (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts	VCV000378179
Select item 51800141.	NM_018109.4(MTPAP):c.1260A>G (p.Thr420=) GRCh37: Chr10:30605099 GRCh38: Chr10:30316170	MTPAP		not specified	Likely benign (Jun 1, 2021)	criteria provided, multiple submitters, no conflicts	VCV000518001
Select item 58615642.	NM_018109.4(MTPAP):c.1255T>G (p.Cys419Gly) GRCh37: Chr10:30605104 GRCh38: Chr10:30316175	MTPAP	C419G	not provided	Uncertain significance (Jun 28, 2018)	criteria provided, single submitter	VCV000586156
Select item 133121443.	NM_018109.4(MTPAP):c.1244A>G (p.Glu415Gly) GRCh37: Chr10:30605115 GRCh38: Chr10:30316186	MTPAP	E415G	not provided	Uncertain significance (Jul 1, 2021)	criteria provided, single submitter	VCV001331214
Select item 157012744.	NM_018109.4(MTPAP):c.1220-7G>A GRCh37: Chr10:30605146 GRCh38: Chr10:30316217	MTPAP		not provided	Likely benign (Nov 24, 2021)	criteria provided, single submitter	VCV001570127
Select item 77020445.	NM_018109.4(MTPAP):c.1220-7G>T GRCh37: Chr10:30605146 GRCh38: Chr10:30316217	MTPAP		not provided	Likely benign (Aug 16, 2017)	criteria provided, single submitter	VCV000770204
Select item 77020546.	NM_018109.4(MTPAP):c.1220-9G>T GRCh37: Chr10:30605148 GRCh38: Chr10:30316219	MTPAP		not provided	Likely benign (Aug 15, 2017)	criteria provided, single submitter	VCV000770205
Select item 67178247.	NM_018109.4(MTPAP):c.1220-271C>T GRCh37: Chr10:30605410 GRCh38: Chr10:30316481	MTPAP		not provided	Benign (Jun 14, 2018)	criteria provided, single submitter	VCV000671782
Select item 67290248.	NM_018109.4(MTPAP):c.1219+325A>G GRCh37: Chr10:30610995 GRCh38: Chr10:30322066	MTPAP		not provided	Likely benign (Jun 14, 2018)	criteria provided, single submitter	VCV000672902
Select item 119109349.	NM_018109.4(MTPAP):c.1219+192C>G GRCh37: Chr10:30611128 GRCh38: Chr10:30322199	MTPAP		not provided	Likely benign (Jun 28, 2018)	criteria provided, single submitter	VCV001191093
Select item 118678250.	NM_018109.4(MTPAP):c.1219+89G>A GRCh37: Chr10:30611231 GRCh38: Chr10:30322302	MTPAP		not provided	Likely benign (Jun 28, 2018)	criteria provided, single submitter	VCV001186782
Select item 126552351.	NM_018109.4(MTPAP):c.1219+37C>G GRCh37: Chr10:30611283 GRCh38: Chr10:30322354	MTPAP		not provided	Benign (Jun 29, 2018)	criteria provided, single submitter	VCV001265523
Select item 134943252.	NM_018109.4(MTPAP):c.1208A>C (p.Lys403Thr) GRCh37: Chr10:30611331 GRCh38: Chr10:30322402	MTPAP	K403T	not provided	Uncertain significance (Oct 24, 2021)	criteria provided, single submitter	VCV001349432
Select item 142764353.	NM_018109.4(MTPAP):c.1172G>A (p.Arg391Lys) GRCh37: Chr10:30611367 GRCh38: Chr10:30322438	MTPAP	R391K	not provided	Uncertain significance (Nov 26, 2021)	criteria provided, single submitter	VCV001427643
Select item 142869754.	NM_018109.4(MTPAP):c.1161dup (p.Leu388fs) GRCh37: Chr10:30611377-30611378 GRCh38: Chr10:30322448-30322449	MTPAP	L388fs	not provided	Uncertain significance (Dec 6, 2021)	criteria provided, single submitter	VCV001428697
Select item 38904655.	NM_018109.4(MTPAP):c.1128A>G (p.Thr376=) GRCh37: Chr10:30611411 GRCh38: Chr10:30322482	MTPAP		not specified	Likely benign (Sep 16, 2016)	criteria provided, single submitter	VCV000389046
Select item 38628656.	NM_018109.4(MTPAP):c.1098A>G (p.Leu366=) GRCh37: Chr10:30611441 GRCh38: Chr10:30322512	MTPAP		not specified, not provided	Likely benign (Jul 15, 2018)	criteria provided, multiple submitters, no conflicts	VCV000386286
Select item 41834057.	NM_018109.4(MTPAP):c.1072C>T (p.Arg358Trp) GRCh37: Chr10:30611467 GRCh38: Chr10:30322538	MTPAP	R358W	Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Jul 19, 2017)	criteria provided, conflicting interpretations	VCV000418340
Select item 139703358.	NM_018109.4(MTPAP):c.1049T>C (p.Val350Ala) GRCh37: Chr10:30611490 GRCh38: Chr10:30322561	MTPAP	V350A	not provided	Uncertain significance (Dec 15, 2021)	criteria provided, single submitter	VCV001397033
Select item 125222059.	NM_018109.4(MTPAP):c.1036C>T (p.Leu346=) GRCh37: Chr10:30611503 GRCh38: Chr10:30322574	MTPAP		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter	VCV001252220
Select item 58615560.	NM_018109.4(MTPAP):c.1012G>A (p.Glu338Lys) GRCh37: Chr10:30611527 GRCh38: Chr10:30322598	MTPAP	E338K	not provided	Uncertain significance (Mar 1, 2018)	criteria provided, single submitter	VCV000586155
Select item 125627461.	NM_018109.4(MTPAP):c.1011C>T (p.Ser337=) GRCh37: Chr10:30611528 GRCh38: Chr10:30322599	MTPAP		not specified	Likely benign (Nov 3, 2020)	criteria provided, single submitter	VCV001256274
Select item 155205762.	NM_018109.4(MTPAP):c.1007G>T (p.Ser336Ile) GRCh37: Chr10:30611532 GRCh38: Chr10:30322603	MTPAP	S336I	not provided	Likely benign (Dec 3, 2021)	criteria provided, single submitter	VCV001552057
Select item 127514363.	NM_018109.4(MTPAP):c.993-68G>A GRCh37: Chr10:30611614 GRCh38: Chr10:30322685	MTPAP		not provided	Benign (Jun 23, 2018)	criteria provided, single submitter	VCV001275143
Select item 68408364.	NM_018109.4(MTPAP):c.993-228A>C GRCh37: Chr10:30611774 GRCh38: Chr10:30322845	MTPAP		not provided	Benign (Jun 14, 2018)	criteria provided, single submitter	VCV000684083
Select item 125104165.	NM_018109.4(MTPAP):c.993-295C>T GRCh37: Chr10:30611841 GRCh38: Chr10:30322912	MTPAP		not provided	Benign (Jul 27, 2018)	criteria provided, single submitter	VCV001251041
Select item 68322366.	NM_018109.4(MTPAP):c.992+163G>A GRCh37: Chr10:30615190 GRCh38: Chr10:30326261	MTPAP		not provided	Benign (Jun 14, 2018)	criteria provided, single submitter	VCV000683223
Select item 99468967.	NM_018109.4(MTPAP):c.992+9G>A GRCh37: Chr10:30615344 GRCh38: Chr10:30326415	MTPAP		not provided	Likely benign (Dec 13, 2021)	criteria provided, multiple submitters, no conflicts	VCV000994689
Select item 99468868.	NM_018109.4(MTPAP):c.992+8C>T GRCh37: Chr10:30615345 GRCh38: Chr10:30326416	MTPAP		not provided, not specified	Benign (Nov 18, 2021)	criteria provided, multiple submitters, no conflicts	VCV000994688
Select item 99468769.	NM_018109.4(MTPAP):c.983C>T (p.Thr328Met) GRCh37: Chr10:30615362 GRCh38: Chr10:30326433	MTPAP	T328M	not provided	Uncertain significance (Jun 16, 2020)	criteria provided, single submitter	VCV000994687
Select item 121980470.	NM_018109.4(MTPAP):c.981T>A (p.Thr327=) GRCh37: Chr10:30615364 GRCh38: Chr10:30326435	MTPAP		not provided	Likely benign (Aug 15, 2021)	criteria provided, multiple submitters, no conflicts	VCV001219804
Select item 38106671.	NM_018109.4(MTPAP):c.960C>T (p.Ser320=) GRCh37: Chr10:30615385 GRCh38: Chr10:30326456	MTPAP		not provided	Likely benign (Jan 13, 2020)	criteria provided, single submitter	VCV000381066
Select item 119676372.	NM_018109.4(MTPAP):c.936C>T (p.Leu312=) GRCh37: Chr10:30615409 GRCh38: Chr10:30326480	MTPAP		not provided	Likely benign (Jun 16, 2020)	criteria provided, single submitter	VCV001196763
Select item 51127573.	NM_018109.4(MTPAP):c.933G>A (p.Pro311=) GRCh37: Chr10:30615412 GRCh38: Chr10:30326483	MTPAP		not specified	Likely benign (Aug 11, 2017)	criteria provided, single submitter	VCV000511275
Select item 152330874.	NM_018109.4(MTPAP):c.925C>T (p.Arg309Trp) GRCh37: Chr10:30615420 GRCh38: Chr10:30326491	MTPAP	R309W	not provided	Uncertain significance (Oct 27, 2021)	criteria provided, single submitter	VCV001523308
Select item 117952175.	NM_018109.4(MTPAP):c.916T>C (p.Leu306=) GRCh37: Chr10:30615429 GRCh38: Chr10:30326500	MTPAP		not provided	Benign (Oct 10, 2021)	criteria provided, multiple submitters, no conflicts	VCV001179521
Select item 99468676.	NM_018109.4(MTPAP):c.888C>A (p.Gly296=) GRCh37: Chr10:30615457 GRCh38: Chr10:30326528	MTPAP		not provided	Uncertain significance (Apr 28, 2020)	criteria provided, single submitter	VCV000994686
Select item 149744177.	NM_018109.4(MTPAP):c.883T>C (p.Phe295Leu) GRCh37: Chr10:30615462 GRCh38: Chr10:30326533	MTPAP	F295L	not provided	Uncertain significance (Oct 16, 2021)	criteria provided, single submitter	VCV001497441
Select item 38248478.	NM_018109.4(MTPAP):c.858T>C (p.Ser286=) GRCh37: Chr10:30615487 GRCh38: Chr10:30326558	MTPAP		not specified	Likely benign (Feb 12, 2016)	criteria provided, single submitter	VCV000382484
Select item 102951179.	NM_018109.4(MTPAP):c.842C>G (p.Thr281Ser) GRCh37: Chr10:30615503 GRCh38: Chr10:30326574	MTPAP	T281S	Spastic ataxia 4	Uncertain significance (Mar 27, 2019)	criteria provided, single submitter	VCV001029511
Select item 99468580.	NM_018109.4(MTPAP):c.818A>G (p.Asn273Ser) GRCh37: Chr10:30615527 GRCh38: Chr10:30326598	MTPAP	N273S	not provided	Uncertain significance (Mar 27, 2020)	criteria provided, single submitter	VCV000994685
Select item 150926681.	NM_018109.4(MTPAP):c.811G>A (p.Val271Met) GRCh37: Chr10:30615534 GRCh38: Chr10:30326605	MTPAP	V271M	not provided	Uncertain significance (Nov 2, 2021)	criteria provided, single submitter	VCV001509266
Select item 144349882.	NM_018109.4(MTPAP):c.808C>G (p.Gln270Glu) GRCh37: Chr10:30615537 GRCh38: Chr10:30326608	MTPAP	Q270E	not provided	Uncertain significance (Oct 2, 2021)	criteria provided, single submitter	VCV001443498
Select item 136970983.	NM_018109.4(MTPAP):c.791A>G (p.Asn264Ser) GRCh37: Chr10:30615554 GRCh38: Chr10:30326625	MTPAP	N264S	not provided	Uncertain significance (Oct 22, 2021)	criteria provided, single submitter	VCV001369709
Select item 120292184.	NM_018109.4(MTPAP):c.781-47G>A GRCh37: Chr10:30615611 GRCh38: Chr10:30326682	MTPAP		not provided	Likely benign (Dec 5, 2018)	criteria provided, single submitter	VCV001202921
Select item 121242185.	NM_018109.4(MTPAP):c.781-54A>T GRCh37: Chr10:30615618 GRCh38: Chr10:30326689	MTPAP		not provided	Likely benign (Jun 23, 2018)	criteria provided, single submitter	VCV001212421
Select item 128019086.	NM_018109.4(MTPAP):c.781-74T>C GRCh37: Chr10:30615638 GRCh38: Chr10:30326709	MTPAP		not provided	Benign (Jun 23, 2018)	criteria provided, single submitter	VCV001280190
Select item 126182487.	NM_018109.4(MTPAP):c.780+266A>G GRCh37: Chr10:30625466 GRCh38: Chr10:30336537	MTPAP		not provided	Benign (Jun 26, 2018)	criteria provided, single submitter	VCV001261824
Select item 67166588.	NM_018109.4(MTPAP):c.780+211A>G GRCh37: Chr10:30625521 GRCh38: Chr10:30336592	MTPAP		not provided	Benign (Jun 14, 2018)	criteria provided, single submitter	VCV000671665
Select item 119524889.	NM_018109.4(MTPAP):c.780+30C>T GRCh37: Chr10:30625702 GRCh38: Chr10:30336773	MTPAP		not provided	Likely benign (Jan 5, 2021)	criteria provided, single submitter	VCV001195248
Select item 154884590.	NM_018109.4(MTPAP):c.780+9A>C GRCh37: Chr10:30625723 GRCh38: Chr10:30336794	MTPAP		not provided	Likely benign (Oct 10, 2021)	criteria provided, single submitter	VCV001548845
Select item 143902191.	NM_018109.4(MTPAP):c.764A>G (p.Asn255Ser) GRCh37: Chr10:30625748 GRCh38: Chr10:30336819	MTPAP	N255S	not provided	Uncertain significance (Oct 29, 2021)	criteria provided, single submitter	VCV001439021
Select item 144110592.	NM_018109.4(MTPAP):c.748C>G (p.Leu250Val) GRCh37: Chr10:30625764 GRCh38: Chr10:30336835	MTPAP	L250V	not provided	Uncertain significance (Dec 15, 2021)	criteria provided, single submitter	VCV001441105
Select item 161066693.	NM_018109.4(MTPAP):c.699A>G (p.Ser233=) GRCh37: Chr10:30625813 GRCh38: Chr10:30336884	MTPAP		not provided	Likely benign (Oct 21, 2021)	criteria provided, single submitter	VCV001610666
Select item 80505794.	NM_018109.4(MTPAP):c.657C>T (p.Ala219=) GRCh37: Chr10:30625855 GRCh38: Chr10:30336926	MTPAP		not provided	Likely benign (Mar 22, 2019)	criteria provided, single submitter	VCV000805057
Select item 44774595.	NM_018109.4(MTPAP):c.655G>A (p.Ala219Thr) GRCh37: Chr10:30625857 GRCh38: Chr10:30336928	MTPAP	A219T	not specified	Uncertain significance (Jun 20, 2017)	criteria provided, single submitter	VCV000447745
Select item 39138496.	NM_018109.4(MTPAP):c.654C>T (p.Ala218=) GRCh37: Chr10:30625858 GRCh38: Chr10:30336929	MTPAP		not specified	Likely benign (Dec 13, 2016)	criteria provided, single submitter	VCV000391384
Select item 68252097.	NM_018109.4(MTPAP):c.600A>G (p.Thr200=) GRCh37: Chr10:30625912 GRCh38: Chr10:30336983	MTPAP		not provided	Likely benign (May 17, 2018)	criteria provided, single submitter	VCV000682520
Select item 158551598.	NM_018109.4(MTPAP):c.597A>T (p.Leu199=) GRCh37: Chr10:30625915 GRCh38: Chr10:30336986	MTPAP		not provided	Likely benign (Oct 22, 2021)	criteria provided, single submitter	VCV001585515
Select item 37986499.	NM_018109.4(MTPAP):c.585G>A (p.Lys195=) GRCh37: Chr10:30625927 GRCh38: Chr10:30336998	MTPAP		not provided	Benign/Likely benign (Dec 13, 2021)	criteria provided, multiple submitters, no conflicts	VCV000379864
Select item 1352459100.	NM_018109.4(MTPAP):c.577C>G (p.Leu193Val) GRCh37: Chr10:30625935 GRCh38: Chr10:30337006	MTPAP	L193V	not provided	Uncertain significance (Nov 13, 2021)	criteria provided, single submitter	VCV001352459

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