ClinVar for MedGen (Select 75694) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25010891.	NM_000532.5(PCCB):c.1223_1231delinsCAGGA (p.Ile408fs) GRCh37: Chr3:136046021-136046029 GRCh38: Chr3:136327179-136327187	PCCB	I408fs, I428fs	Propionic acidemia	Likely pathogenic (Mar 15, 2023)	criteria provided, single submitter
Select item 25010882.	NM_000532.5(PCCB):c.1217_1219delinsTAGA (p.Gly406fs) GRCh37: Chr3:136046015-136046017 GRCh38: Chr3:136327173-136327175	PCCB	G406fs, G426fs	Propionic acidemia	Likely pathogenic (Mar 16, 2023)	criteria provided, single submitter
Select item 24345963.	NM_000532.5(PCCB):c.1585C>T (p.Arg529Cys) GRCh37: Chr3:136048833 GRCh38: Chr3:136329991	PCCB	R529C, R549C	Propionic acidemia	Uncertain significance (Dec 13, 2022)	criteria provided, single submitter
Select item 24345954.	NM_000532.5(PCCB):c.1313C>A (p.Ala438Asp) GRCh37: Chr3:136046489 GRCh38: Chr3:136327647	PCCB	A438D, A458D	Propionic acidemia	Uncertain significance (Oct 21, 2021)	criteria provided, single submitter
Select item 24345945.	NM_000282.4(PCCA):c.1428A>G (p.Arg476=) GRCh37: Chr13:100962161 GRCh38: Chr13:100309907	PCCA		Propionic acidemia	Uncertain significance (Nov 17, 2021)	criteria provided, single submitter
Select item 24345936.	NM_000282.4(PCCA):c.893A>C (p.Lys298Thr) GRCh37: Chr13:100921016 GRCh38: Chr13:100268762	PCCA	K272T, K298T	Propionic acidemia	Uncertain significance (Nov 29, 2022)	criteria provided, single submitter
Select item 24345927.	NM_000282.4(PCCA):c.1184C>G (p.Ala395Gly) GRCh37: Chr13:100953832 GRCh38: Chr13:100301578	PCCA	A369G, A395G, A80G	Propionic acidemia	Uncertain significance (Dec 15, 2019)	criteria provided, single submitter
Select item 24345918.	NM_000282.4(PCCA):c.2126C>T (p.Ser709Phe) GRCh37: Chr13:101182359 GRCh38: Chr13:100530105	PCCA	S346F, S376F, S394F, S635F, S636F, S661F, S662F, S683F, S691F, S709F	Propionic acidemia	Uncertain significance (May 24, 2019)	criteria provided, single submitter
Select item 24324899.	NM_000532.5(PCCB):c.371dup (p.Asp125fs) GRCh37: Chr3:135975463-135975464 GRCh38: Chr3:136256621-136256622	PCCB	D125fs, Q125fs	Propionic acidemia	Likely pathogenic (Oct 19, 2022)	criteria provided, single submitter
Select item 243247710.	NM_000282.4(PCCA):c.638-2del GRCh37: Chr13:100909847 GRCh38: Chr13:100257593	PCCA		Propionic acidemia	Likely pathogenic (Nov 22, 2021)	criteria provided, single submitter
Select item 243246111.	NM_000282.4(PCCA):c.677_678insTAAAGGGATTCGTAAGGTT (p.Met229fs) GRCh37: Chr13:100909888-100909889 GRCh38: Chr13:100257634-100257635	PCCA	M203fs, M229fs	Propionic acidemia	Likely pathogenic (Nov 15, 2021)	criteria provided, single submitter
Select item 242324312.	NC_000003.11:g.(?_135969218)_(135969420_?)dup GRCh37: Chr3:135969218-135969420	PCCB		Propionic acidemia	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 242324213.	NC_000003.11:g.(?_136002659)_(136016934_?)del GRCh37: Chr3:136002659-136016934	PCCB		Propionic acidemia	Pathogenic (Jun 4, 2022)	criteria provided, single submitter
Select item 242324114.	NC_000003.11:g.(?_136002659)_(136035926_?)del GRCh37: Chr3:136002659-136035926	PCCB		Propionic acidemia	Pathogenic (Oct 12, 2022)	criteria provided, single submitter
Select item 242323915.	NC_000003.11:g.(?_136016774)_(136016934_?)del GRCh37: Chr3:136016774-136016934	PCCB		Propionic acidemia	Pathogenic (Sep 22, 2022)	criteria provided, single submitter
Select item 242280816.	NC_000013.10:g.(?_101077867)_(101182420_?)dup GRCh37: Chr13:101077867-101182420	GGACT, PCCA		Propionic acidemia	Uncertain significance (May 30, 2021)	criteria provided, single submitter
Select item 242280717.	NC_000013.10:g.(?_100953704)_(100962172_?)dup GRCh37: Chr13:100953704-100962172	PCCA		Propionic acidemia	Likely pathogenic (Aug 7, 2021)	criteria provided, single submitter
Select item 242280618.	NC_000013.10:g.(?_100038233)_(103718599_?)dup GRCh37: Chr13:100038233-103718599	BIVM, BIVM-ERCC5, CCDC168, CLYBL, ERCC5, FGF14, GGACT, ITGBL1, METTL21C, NALCN, PCCA, POGLUT2, SLC10A2, TEX30, TM9SF2, TMTC4, TPP2, UBAC2, ZIC2, ZIC5		Holoprosencephaly 5, not provided, Propionic acidemia	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 242280519.	NC_000013.10:g.(?_100909839)_(100992523_?)del GRCh37: Chr13:100909839-100992523	PCCA		Propionic acidemia	Pathogenic (Sep 7, 2022)	criteria provided, single submitter
Select item 242280420.	NC_000013.10:g.(?_101167661)_(101167841_?)del GRCh37: Chr13:101167661-101167841	PCCA		Propionic acidemia	Pathogenic (Oct 10, 2022)	criteria provided, single submitter
Select item 242280321.	NC_000013.10:g.(?_100971208)_(100992469_?)del GRCh37: Chr13:100971208-100992469	PCCA		Propionic acidemia	Pathogenic (Oct 21, 2022)	criteria provided, single submitter
Select item 242280222.	NC_000013.10:g.(?_101077867)_(101101579_?)dup GRCh37: Chr13:101077867-101101579	PCCA		Propionic acidemia	Uncertain significance (Nov 3, 2021)	criteria provided, single submitter
Select item 242280123.	NC_000013.10:g.(?_100909829)_(101101579_?)del GRCh37: Chr13:100909829-101101579	PCCA		Propionic acidemia	Pathogenic (Feb 10, 2022)	criteria provided, single submitter
Select item 242280024.	NC_000013.10:g.(?_100888086)_(100992523_?)del GRCh37: Chr13:100888086-100992523	PCCA		Propionic acidemia	Pathogenic (Apr 26, 2022)	criteria provided, single submitter
Select item 242279925.	NC_000013.10:g.(?_100953694)_(100992533_?)del GRCh37: Chr13:100953694-100992533	PCCA		Propionic acidemia	Pathogenic (Jul 26, 2022)	criteria provided, single submitter
Select item 242279826.	NC_000013.10:g.(?_100920933)_(100925610_?)del GRCh37: Chr13:100920933-100925610	PCCA		Propionic acidemia	Pathogenic (Oct 7, 2022)	criteria provided, single submitter
Select item 242279727.	NC_000013.10:g.(?_100741375)_(101182420_?)del GRCh37: Chr13:100741375-101182420	PCCA, GGACT		Propionic acidemia	Pathogenic (Oct 17, 2022)	criteria provided, single submitter
Select item 242217428.	NM_000282.4(PCCA):c.1943A>C (p.Lys648Thr) GRCh37: Chr13:101167724 GRCh38: Chr13:100515470	PCCA	K285T, K315T, K333T, K574T, K600T, K622T, K630T, K648T	Propionic acidemia	Uncertain significance (Aug 14, 2022)	criteria provided, single submitter
Select item 242085529.	NM_000282.4(PCCA):c.915C>T (p.Ser305=) GRCh37: Chr13:100925450 GRCh38: Chr13:100273196	PCCA		Propionic acidemia	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 241972930.	NM_000532.5(PCCB):c.1199-20T>G GRCh37: Chr3:136045977 GRCh38: Chr3:136327135	PCCB		Propionic acidemia	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 241881031.	NM_000282.4(PCCA):c.460A>G (p.Arg154Gly) GRCh37: Chr13:100809586 GRCh38: Chr13:100157332	PCCA	R128G, R154G	Propionic acidemia	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 241705632.	NM_000532.5(PCCB):c.946A>G (p.Met316Val) GRCh37: Chr3:136019933 GRCh38: Chr3:136301091	PCCB	M316V, M336V	Propionic acidemia	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 241661533.	NM_000532.5(PCCB):c.793G>A (p.Val265Ile) GRCh37: Chr3:136016823 GRCh38: Chr3:136297981	PCCB	V265I, V285I	Propionic acidemia	Uncertain significance (Jan 13, 2022)	criteria provided, single submitter
Select item 241633934.	NM_000532.5(PCCB):c.722A>T (p.Gln241Leu) GRCh37: Chr3:136012665 GRCh38: Chr3:136293823	PCCB	Q241L, Q261L	Propionic acidemia	Uncertain significance (Nov 14, 2021)	criteria provided, single submitter
Select item 241556335.	NM_000282.4(PCCA):c.1900-7C>T GRCh37: Chr13:101167674 GRCh38: Chr13:100515420	PCCA		Propionic acidemia	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 241555236.	NM_000282.4(PCCA):c.1162G>A (p.Asp388Asn) GRCh37: Chr13:100953810 GRCh38: Chr13:100301556	PCCA	D362N, D388N, D73N	Propionic acidemia	Uncertain significance (Mar 5, 2022)	criteria provided, single submitter
Select item 241554937.	NM_000282.4(PCCA):c.1429+13_1429+14del GRCh37: Chr13:100962175-100962176 GRCh38: Chr13:100309921-100309922	PCCA		Propionic acidemia	Likely benign (Aug 25, 2022)	criteria provided, single submitter
Select item 241532038.	NM_000282.4(PCCA):c.632A>G (p.Glu211Gly) GRCh37: Chr13:100888127 GRCh38: Chr13:100235873	PCCA	E185G, E211G	Propionic acidemia	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 241522139.	NM_000532.5(PCCB):c.106A>C (p.Asn36His) GRCh37: Chr3:135969323 GRCh38: Chr3:136250481	PCCB	N36H	Propionic acidemia	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 241336940.	NM_000282.4(PCCA):c.1171A>G (p.Ile391Val) GRCh37: Chr13:100953819 GRCh38: Chr13:100301565	PCCA	I365V, I391V, I76V	Propionic acidemia	Uncertain significance (Jul 7, 2022)	criteria provided, single submitter
Select item 220344941.	NM_000532.5(PCCB):c.1514T>A (p.Ile505Asn) GRCh37: Chr3:136048762 GRCh38: Chr3:136329920	PCCB	I525N, I505N	Propionic acidemia	Pathogenic (Sep 15, 2022)	criteria provided, single submitter
Select item 220344842.	NM_000532.5(PCCB):c.1313C>T (p.Ala438Val) GRCh37: Chr3:136046489 GRCh38: Chr3:136327647	PCCB	A438V, A458V	Propionic acidemia	Likely pathogenic (Jul 4, 2022)	criteria provided, single submitter
Select item 220344743.	NM_000532.5(PCCB):c.1253C>T (p.Ala418Val) GRCh37: Chr3:136046051 GRCh38: Chr3:136327209	PCCB	A418V, A438V	Propionic acidemia	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 220344644.	NM_000532.5(PCCB):c.1222ATC[1] (p.Ile409del) GRCh37: Chr3:136046019-136046021 GRCh38: Chr3:136327177-136327179	PCCB	I409del, I429del	Propionic acidemia	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 220344545.	NM_000532.5(PCCB):c.1199-2A>G GRCh37: Chr3:136045995 GRCh38: Chr3:136327153	PCCB		Propionic acidemia	Pathogenic (Apr 5, 2022)	criteria provided, single submitter
Select item 220177646.	NM_000282.4(PCCA):c.685A>G (p.Met229Val) GRCh37: Chr13:100909896 GRCh38: Chr13:100257642	PCCA	M229V, M203V	Propionic acidemia	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 220156747.	NM_000282.4(PCCA):c.1969G>A (p.Asp657Asn) GRCh37: Chr13:101167750 GRCh38: Chr13:100515496	PCCA	D294N, D583N, D609N, D631N, D342N, D657N, D324N, D639N	Propionic acidemia	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 220156648.	NM_000282.4(PCCA):c.820-8T>C GRCh37: Chr13:100920935 GRCh38: Chr13:100268681	PCCA		Propionic acidemia	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 220113849.	NM_000532.5(PCCB):c.913A>G (p.Ile305Val) GRCh37: Chr3:136019900 GRCh38: Chr3:136301058	PCCB	I305V, I325V	Propionic acidemia	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 220090450.	NM_000282.4(PCCA):c.934A>T (p.Thr312Ser) GRCh37: Chr13:100925469 GRCh38: Chr13:100273215	PCCA	T312S, T286S	Propionic acidemia	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 220033951.	NM_000282.4(PCCA):c.257G>A (p.Gly86Asp) GRCh37: Chr13:100764272 GRCh38: Chr13:100112018	PCCA	G60D, G86D	Propionic acidemia	Uncertain significance (Feb 13, 2022)	criteria provided, single submitter
Select item 219923552.	NM_000282.4(PCCA):c.1101G>A (p.Leu367=) GRCh37: Chr13:100953749 GRCh38: Chr13:100301495	PCCA		Propionic acidemia	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 219909453.	NM_000282.4(PCCA):c.611A>C (p.Glu204Ala) GRCh37: Chr13:100888106 GRCh38: Chr13:100235852	PCCA	E178A, E204A	Propionic acidemia	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 219891954.	NM_000282.4(PCCA):c.340C>A (p.Pro114Thr) GRCh37: Chr13:100807272 GRCh38: Chr13:100155018	PCCA	P114T, P88T	Propionic acidemia	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 219891055.	NM_000532.5(PCCB):c.1252G>A (p.Ala418Thr) GRCh37: Chr3:136046050 GRCh38: Chr3:136327208	PCCB	A418T, A438T	Propionic acidemia	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 219866256.	NM_000282.4(PCCA):c.391A>G (p.Ile131Val) GRCh37: Chr13:100807323 GRCh38: Chr13:100155069	PCCA	I105V, I131V	Propionic acidemia	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 219766057.	NM_000282.4(PCCA):c.449A>G (p.Lys150Arg) GRCh37: Chr13:100809575 GRCh38: Chr13:100157321	PCCA	K150R, K124R	Propionic acidemia	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 219760958.	NM_000282.4(PCCA):c.740A>C (p.Gln247Pro) GRCh37: Chr13:100915006 GRCh38: Chr13:100262752	PCCA	Q221P, Q247P	Propionic acidemia	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 219694959.	NM_000532.5(PCCB):c.819T>G (p.Asp273Glu) GRCh37: Chr3:136016849 GRCh38: Chr3:136298007	PCCB	D273E, D293E	Propionic acidemia	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 219564960.	NM_000282.4(PCCA):c.1846-10dup GRCh37: Chr13:101101493-101101494 GRCh38: Chr13:100449239-100449240	PCCA		Propionic acidemia	Likely benign (Jun 24, 2022)	criteria provided, single submitter
Select item 219548761.	NM_000282.4(PCCA):c.106-11T>C GRCh37: Chr13:100755126 GRCh38: Chr13:100102872	PCCA		Propionic acidemia	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 219519562.	NM_000282.4(PCCA):c.505C>T (p.His169Tyr) GRCh37: Chr13:100861622 GRCh38: Chr13:100209368	PCCA	H169Y, H143Y	Inborn genetic diseases, Propionic acidemia	Uncertain significance (May 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219348463.	NM_000532.5(PCCB):c.1123_1124delinsCT (p.Ala375Leu) GRCh37: Chr3:136045677-136045678 GRCh38: Chr3:136326835-136326836	PCCB	A375L, A395L	Propionic acidemia	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 219345764.	NM_000532.5(PCCB):c.1402G>T (p.Ala468Ser) GRCh37: Chr3:136047603 GRCh38: Chr3:136328761	PCCB	A468S, A488S	Propionic acidemia	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 219233265.	NM_000282.4(PCCA):c.383T>C (p.Met128Thr) GRCh37: Chr13:100807315 GRCh38: Chr13:100155061	PCCA	M128T, M102T	Propionic acidemia	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 219193166.	NM_000282.4(PCCA):c.1541-19G>T GRCh37: Chr13:100992392 GRCh38: Chr13:100340138	PCCA		Propionic acidemia	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 219063967.	NM_000282.4(PCCA):c.1705G>A (p.Val569Ile) GRCh37: Chr13:101020787 GRCh38: Chr13:100368533	PCCA	V495I, V569I, V543I, V206I, V254I, V521I	Propionic acidemia	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 218967668.	NM_000532.5(PCCB):c.799G>T (p.Ala267Ser) GRCh37: Chr3:136016829 GRCh38: Chr3:136297987	PCCB	A267S, A287S	Propionic acidemia	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 218964669.	NM_000282.4(PCCA):c.172C>T (p.Pro58Ser) GRCh37: Chr13:100755203 GRCh38: Chr13:100102949	PCCA	P58S	Propionic acidemia	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 218922570.	NM_000282.4(PCCA):c.312A>G (p.Lys104=) GRCh37: Chr13:100807244 GRCh38: Chr13:100154990	PCCA		Propionic acidemia	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 218919171.	NM_000532.5(PCCB):c.99C>G (p.Thr33=) GRCh37: Chr3:135969316 GRCh38: Chr3:136250474	PCCB		Propionic acidemia	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 218912172.	NM_000532.5(PCCB):c.1155T>C (p.Asn385=) GRCh37: Chr3:136045709 GRCh38: Chr3:136326867	PCCB		Propionic acidemia	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 218812173.	NM_000282.4(PCCA):c.1168C>T (p.Arg390Cys) GRCh37: Chr13:100953816 GRCh38: Chr13:100301562	PCCA	R364C, R75C, R390C	Propionic acidemia	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 218810174.	NM_000532.5(PCCB):c.1004A>G (p.Asn335Ser) GRCh37: Chr3:136035820 GRCh38: Chr3:136316978	PCCB	N355S, N335S	Propionic acidemia	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 218745475.	NM_000282.4(PCCA):c.1898T>C (p.Val633Ala) GRCh37: Chr13:101101558 GRCh38: Chr13:100449304	PCCA	V318A, V559A, V633A, V270A, V585A, V607A	Propionic acidemia	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 218684776.	NM_000532.5(PCCB):c.1202C>A (p.Thr401Lys) GRCh37: Chr3:136046000 GRCh38: Chr3:136327158	PCCB	T401K, T421K	Propionic acidemia	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 218572577.	NM_000282.4(PCCA):c.415-10C>A GRCh37: Chr13:100809531 GRCh38: Chr13:100157277	PCCA		Propionic acidemia	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 218549978.	NM_000532.5(PCCB):c.950T>G (p.Val317Gly) GRCh37: Chr3:136019937 GRCh38: Chr3:136301095	PCCB	V317G, V337G	Propionic acidemia	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 218529679.	NM_000282.4(PCCA):c.2135G>A (p.Cys712Tyr) GRCh37: Chr13:101182368 GRCh38: Chr13:100530114	PCCA	C397Y, C638Y, C686Y, C349Y, C664Y, C694Y, C379Y, C639Y, C665Y, C712Y	Propionic acidemia	Uncertain significance (Dec 17, 2021)	criteria provided, single submitter
Select item 218457380.	NM_000282.4(PCCA):c.6G>T (p.Ala2=) GRCh37: Chr13:100741380 GRCh38: Chr13:100089126	PCCA		Propionic acidemia	Likely benign (Oct 9, 2022)	criteria provided, single submitter
Select item 218425481.	NM_000282.4(PCCA):c.4G>C (p.Ala2Pro) GRCh37: Chr13:100741378 GRCh38: Chr13:100089124	PCCA	A2P	Propionic acidemia, Inborn genetic diseases	Uncertain significance (Jun 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218273482.	NM_000282.4(PCCA):c.1694T>C (p.Leu565Ser) GRCh37: Chr13:101020776 GRCh38: Chr13:100368522	PCCA	L202S, L565S, L491S, L517S, L539S, L250S	Propionic acidemia	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 218196183.	NM_000532.5(PCCB):c.892C>T (p.Leu298=) GRCh37: Chr3:136019879 GRCh38: Chr3:136301037	PCCB		Propionic acidemia	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 218189084.	NM_000282.4(PCCA):c.1A>G (p.Met1Val) GRCh37: Chr13:100741375 GRCh38: Chr13:100089121	PCCA	M1V	Propionic acidemia	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 218124385.	NM_000282.4(PCCA):c.1117A>G (p.Met373Val) GRCh37: Chr13:100953765 GRCh38: Chr13:100301511	PCCA	M58V, M373V, M347V	Propionic acidemia	Likely pathogenic (Jul 8, 2022)	criteria provided, single submitter
Select item 218075186.	NM_000532.5(PCCB):c.304-13A>G GRCh37: Chr3:135975384 GRCh38: Chr3:136256542	PCCB		Propionic acidemia	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 218074687.	NM_000532.5(PCCB):c.751A>G (p.Thr251Ala) GRCh37: Chr3:136012694 GRCh38: Chr3:136293852	PCCB	T251A, T271A	Propionic acidemia	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 218058388.	NM_000532.5(PCCB):c.1195C>T (p.Pro399Ser) GRCh37: Chr3:136045749 GRCh38: Chr3:136326907	PCCB	P399S, P419S	Propionic acidemia	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 217838589.	NM_000282.4(PCCA):c.1210-14C>T GRCh37: Chr13:100955164 GRCh38: Chr13:100302910	PCCA		Propionic acidemia	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 217778590.	NM_000282.4(PCCA):c.1209+14T>G GRCh37: Chr13:100953871 GRCh38: Chr13:100301617	PCCA		Propionic acidemia	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 217766891.	NM_000532.5(PCCB):c.119A>G (p.Glu40Gly) GRCh37: Chr3:135969336 GRCh38: Chr3:136250494	PCCB	E40G	Propionic acidemia	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 217726292.	NM_000532.5(PCCB):c.655-8T>C GRCh37: Chr3:136012590 GRCh38: Chr3:136293748	PCCB		Propionic acidemia	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 217432593.	NM_000532.5(PCCB):c.170C>T (p.Ala57Val) GRCh37: Chr3:135969387 GRCh38: Chr3:136250545	PCCB	A57V	Propionic acidemia	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 217410794.	NM_000532.5(PCCB):c.315C>T (p.Asp105=) GRCh37: Chr3:135975408 GRCh38: Chr3:136256566	PCCB		Propionic acidemia	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 217410195.	NM_000532.5(PCCB):c.967-7C>T GRCh37: Chr3:136035776 GRCh38: Chr3:136316934	PCCB		Propionic acidemia	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 217410096.	NM_000532.5(PCCB):c.1386C>T (p.Val462=) GRCh37: Chr3:136046562 GRCh38: Chr3:136327720	PCCB		Propionic acidemia	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 217345497.	NM_000282.4(PCCA):c.914+14G>A GRCh37: Chr13:100921051 GRCh38: Chr13:100268797	PCCA		Propionic acidemia	Likely benign (Feb 12, 2022)	criteria provided, single submitter
Select item 217328298.	NM_000282.4(PCCA):c.763G>A (p.Asp255Asn) GRCh37: Chr13:100915029 GRCh38: Chr13:100262775	PCCA	D229N, D255N	Propionic acidemia	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 217232999.	NM_000532.5(PCCB):c.1489G>A (p.Ala497Thr) GRCh37: Chr3:136047690 GRCh38: Chr3:136328848	PCCB	A497T, A517T	Propionic acidemia	Uncertain significance (Jun 3, 2022)	criteria provided, single submitter
Select item 2172052100.	NM_000532.5(PCCB):c.1586G>A (p.Arg529His) GRCh37: Chr3:136048834 GRCh38: Chr3:136329992	PCCB	R529H, R549H	Propionic acidemia	Uncertain significance (Jun 16, 2022)	criteria provided, single submitter

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