ClinVar for MedGen (Select 75694) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251878	NM_000282.4(PCCA):c.1367G>T (p.Gly456Val)	PCCA (G141V +5 more)	Single nucleotide variant (missense variant +1 more)	Propionic acidemia	GLikely pathogenic
Select item 3246859	NC_000003.11:g.(?_136019910)_(136021257_?)del	PCCB	Deletion	Propionic acidemia	GPathogenic
Select item 3246858	NC_000003.11:g.(?_136002669)_(136048878_?)del	PCCB	Deletion	Propionic acidemia	GPathogenic
Select item 3246857	NC_000003.11:g.(?_135979301)_(135980927_?)del	PCCB	Deletion	Propionic acidemia	GPathogenic
Select item 3246856	NC_000003.11:g.(?_135974678)_(135979397_?)del	PCCB	Deletion	Propionic acidemia	GPathogenic
Select item 3246855	NC_000003.11:g.(?_135969205)_(135980927_?)del	PCCB	Deletion	Propionic acidemia	GPathogenic
Select item 3244156	NC_000013.10:g.(?_100807223)_(100962172_?)dup	PCCA	Duplication	Propionic acidemia	GLikely pathogenic
Select item 3244155	NC_000013.10:g.(?_101101486)_(101101579_?)dup	PCCA	Duplication	Propionic acidemia	GLikely pathogenic
Select item 3244154	NC_000013.10:g.(?_100909829)_(101020848_?)del	PCCA	Deletion	Propionic acidemia	GPathogenic
Select item 3244153	NC_000013.10:g.(?_100888076)_(101020848_?)del	PCCA	Deletion	Propionic acidemia	GPathogenic
Select item 3244152	NC_000013.10:g.(?_100861566)_(101020848_?)del	PCCA	Deletion	Propionic acidemia	GPathogenic
Select item 3244151	NC_000013.10:g.(?_100861566)_(100962182_?)del	PCCA	Deletion	Propionic acidemia	GPathogenic
Select item 3244148	NC_000013.11:g.(?_100111821)_(100112081_?)del	PCCA	Deletion	Propionic acidemia	GPathogenic
Select item 3244147	NC_000013.10:g.(?_100962067)_(100992533_?)del	PCCA	Deletion	Propionic acidemia	GPathogenic
Select item 3244146	NC_000013.10:g.(?_100953694)_(101101579_?)del	PCCA	Deletion	Propionic acidemia	GPathogenic
Select item 3244145	NC_000013.10:g.(?_100953694)_(100962182_?)del	PCCA	Deletion	Propionic acidemia	GPathogenic
Select item 3244144	NC_000013.10:g.(?_100909829)_(100909947_?)del	PCCA	Deletion	Propionic acidemia	GPathogenic
Select item 3244143	NC_000013.10:g.(?_100888076)_(100888152_?)del	PCCA	Deletion	Propionic acidemia	GPathogenic
Select item 3244142	NC_000013.10:g.(?_101101486)_(101101579_?)del	PCCA	Deletion	Propionic acidemia	GPathogenic
Select item 3244141	NC_000013.10:g.(?_101020706)_(101020848_?)del	PCCA	Deletion	Propionic acidemia	GPathogenic
Select item 3240045	NM_000532.5(PCCB):c.335_338dup (p.Ile114fs)	PCCB (I114fs)	Duplication (frameshift variant)	Propionic acidemia	GLikely pathogenic
Select item 3240044	NM_000532.5(PCCB):c.925G>T (p.Glu309Ter)	PCCB (E309* +1 more)	Single nucleotide variant (nonsense)	Propionic acidemia	GLikely pathogenic
Select item 3240043	NM_000532.5(PCCB):c.1516dup (p.Ile506fs)	PCCB (I506fs +1 more)	Duplication (frameshift variant)	Propionic acidemia	GLikely pathogenic
Select item 3240042	NM_000532.5(PCCB):c.1091-2A>G	PCCB	Single nucleotide variant (splice acceptor variant)	Propionic acidemia	GLikely pathogenic
Select item 3240041	NM_000532.5(PCCB):c.967-2_971del	PCCB	Deletion (splice acceptor variant)	Propionic acidemia	GLikely pathogenic
Select item 3240040	NM_000282.4(PCCA):c.1684_1685del (p.Val563fs)	PCCA (V200fs +5 more)	Microsatellite (frameshift variant +1 more)	Propionic acidemia	GLikely pathogenic
Select item 3240039	NM_000282.4(PCCA):c.1523del (p.Tyr508fs)	PCCA (Y145fs +5 more)	Deletion (frameshift variant +1 more)	Propionic acidemia	GLikely pathogenic
Select item 3240038	NM_000282.4(PCCA):c.716+1dup	PCCA	Duplication (splice donor variant +1 more)	Propionic acidemia	GLikely pathogenic
Select item 3240037	NM_000282.4(PCCA):c.312_313del (p.Lys104fs)	PCCA (K104fs +1 more)	Deletion (frameshift variant +2 more)	Propionic acidemia	GLikely pathogenic
Select item 3240036	NM_000282.4(PCCA):c.1055_1056del (p.Thr352fs)	PCCA (T326fs +2 more)	Deletion (frameshift variant +1 more)	Propionic acidemia	GLikely pathogenic
Select item 3240035	NM_000282.4(PCCA):c.819+1G>T	PCCA	Single nucleotide variant (splice donor variant)	Propionic acidemia	GLikely pathogenic
Select item 3240034	NM_000282.4(PCCA):c.1524T>G (p.Tyr508Ter)	PCCA (Y145* +5 more)	Single nucleotide variant (nonsense +1 more)	Propionic acidemia	GLikely pathogenic
Select item 3240033	NM_000282.4(PCCA):c.330_333del (p.Cys111fs)	PCCA (C111fs +1 more)	Microsatellite (frameshift variant +2 more)	Propionic acidemia	GLikely pathogenic
Select item 3240032	NM_000282.4(PCCA):c.414+5G>A	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely pathogenic
Select item 3240031	NM_000282.4(PCCA):c.449_468+437inv	PCCA	Inversion (splice donor variant)	Propionic acidemia	GLikely pathogenic
Select item 3240030	NM_000282.4(PCCA):c.1198del (p.Val400fs)	PCCA (V374fs +2 more)	Deletion (frameshift variant +2 more)	Propionic acidemia	GLikely pathogenic
Select item 3240029	NM_000282.4(PCCA):c.2030_2037dup (p.Ala680fs)	PCCA (A317fs +7 more)	Duplication (frameshift variant +2 more)	Propionic acidemia	GLikely pathogenic
Select item 3240028	NM_000282.4(PCCA):c.1306C>T (p.Gln436Ter)	PCCA (Q121* +5 more)	Single nucleotide variant (nonsense +1 more)	Propionic acidemia	GLikely pathogenic
Select item 3235056	NM_000532.5(PCCB):c.373-1G>T	PCCB	Single nucleotide variant (splice acceptor variant)	Propionic acidemia	GLikely pathogenic
Select item 3065886	NM_000532.5(PCCB):c.1174G>T (p.Val392Phe)	PCCB (V392F +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GLikely pathogenic
Select item 3065599	NM_000532.5(PCCB):c.1163T>A (p.Leu388His)	PCCB (L388H +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GLikely pathogenic
Select item 3065456	NM_000282.4(PCCA):c.496C>A (p.Pro166Thr)	PCCA (P140T +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GLikely pathogenic
Select item 3065256	NM_000282.4(PCCA):c.111_130del (p.Tyr39fs)	PCCA (Y39fs)	Deletion (frameshift variant +3 more)	Propionic acidemia	GLikely pathogenic
Select item 3064985	NM_000282.4(PCCA):c.812A>T (p.Glu271Val)	PCCA (E245V +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GLikely benign
Select item 3064461	NM_000532.5(PCCB):c.1523del (p.Pro508fs)	PCCB (P508fs +1 more)	Deletion (frameshift variant)	Propionic acidemia	GLikely pathogenic
Select item 3023683	NM_000532.5(PCCB):c.1399-12_1399-10del	PCCB	Microsatellite (intron variant)	Propionic acidemia	GLikely benign
Select item 3023607	NM_000282.4(PCCA):c.962T>C (p.Val321Ala)	PCCA (V321A +2 more)	Single nucleotide variant (missense variant +1 more)	Propionic acidemia	GUncertain significance
Select item 3023118	NM_000532.5(PCCB):c.183+12G>A	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3022896	NM_000282.4(PCCA):c.2040+12G>C	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3021893	NM_000282.4(PCCA):c.1846-9_1846-6del	PCCA	Microsatellite (intron variant)	Propionic acidemia	GLikely benign
Select item 3019530	NM_000282.4(PCCA):c.429T>C (p.Tyr143=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 3018810	NM_000532.5(PCCB):c.1398+18T>C	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3018691	NM_000282.4(PCCA):c.1066-15A>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3018078	NM_000282.4(PCCA):c.1209+18G>T	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3017493	NM_000532.5(PCCB):c.132G>C (p.Arg44=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 3016823	NM_000282.4(PCCA):c.1284+18_1284+34del	PCCA	Deletion (intron variant)	Propionic acidemia	GLikely benign
Select item 3015638	NM_000282.4(PCCA):c.1926T>G (p.Leu642=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 3015583	NM_000532.5(PCCB):c.764-10G>A	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3015180	NM_000532.5(PCCB):c.1091-14C>T	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3014423	NM_000282.4(PCCA):c.1284+14C>T	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3014404	NM_000282.4(PCCA):c.87G>C (p.Ala29=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 3014351	NM_000282.4(PCCA):c.1612T>A (p.Leu538Ile)	PCCA (L538I +5 more)	Single nucleotide variant (missense variant +1 more)	Propionic acidemia	GUncertain significance
Select item 3013888	NM_000532.5(PCCB):c.1198+19G>C	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3013431	NM_000532.5(PCCB):c.1032T>C (p.Phe344=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 3011506	NM_000282.4(PCCA):c.1761G>A (p.Gly587=)	PCCA	Single nucleotide variant (synonymous variant +1 more)	Propionic acidemia	GLikely benign
Select item 3010777	NM_000532.5(PCCB):c.1605A>G (p.Ala535=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 3010137	NM_000532.5(PCCB):c.1498+12T>C	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3009725	NM_000532.5(PCCB):c.966+13T>C	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3009650	NM_000532.5(PCCB):c.1299+7A>T	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3007582	NM_000282.4(PCCA):c.716+20A>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3007476	NM_000282.4(PCCA):c.2119-17A>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3007125	NM_000282.4(PCCA):c.717-19T>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3005420	NM_000282.4(PCCA):c.1846-20A>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3005171	NM_000282.4(PCCA):c.915-15T>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3001554	NM_000282.4(PCCA):c.1680G>A (p.Glu560=)	PCCA	Single nucleotide variant (synonymous variant +1 more)	Propionic acidemia	GLikely benign
Select item 3001396	NM_000282.4(PCCA):c.1845+20C>A	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3001243	NM_000532.5(PCCB):c.184-5T>C	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 3000570	NM_000282.4(PCCA):c.106-5dup	PCCA	Duplication (intron variant)	Propionic acidemia	GBenign
Select item 3000437	NM_000532.5(PCCB):c.429+15C>T	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2999887	NM_000532.5(PCCB):c.429+20A>T	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2999645	NM_000532.5(PCCB):c.966+20G>T	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2997220	NM_000532.5(PCCB):c.1090+15_1090+16dup	PCCB	Duplication (intron variant)	Propionic acidemia	GLikely benign
Select item 2997095	NM_000282.4(PCCA):c.1429+10A>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2996064	NM_000532.5(PCCB):c.966+18_966+21del	PCCB	Deletion (intron variant)	Propionic acidemia	GLikely benign
Select item 2995330	NM_000532.5(PCCB):c.24G>A (p.Ala8=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 2994823	NM_000282.4(PCCA):c.1354-17T>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2993836	NM_000532.5(PCCB):c.1199-15C>G	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2993787	NM_000282.4(PCCA):c.99C>G (p.Thr33=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 2993786	NM_000532.5(PCCB):c.786A>G (p.Glu262=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 2990369	NM_000282.4(PCCA):c.468+15A>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2989966	NM_000532.5(PCCB):c.394A>G (p.Ser132Gly)	PCCB (S152G +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 2989752	NM_000532.5(PCCB):c.372+15C>A	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2989568	NM_000532.5(PCCB):c.654+17T>C	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2989527	NM_000282.4(PCCA):c.129G>A (p.Gln43=)	PCCA	Single nucleotide variant (synonymous variant +3 more)	Propionic acidemia	GLikely benign
Select item 2989478	NM_000532.5(PCCB):c.381A>G (p.Thr127=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 2989345	NM_000532.5(PCCB):c.1498+14G>A	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 2987784	NM_000532.5(PCCB):c.655-8dup	PCCB	Duplication (intron variant)	Propionic acidemia	GBenign
Select item 2987525	NM_000532.5(PCCB):c.102T>C (p.Ser34=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 2985723	NM_000532.5(PCCB):c.444C>T (p.Ala148=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 2985693	NM_000282.4(PCCA):c.1138dup (p.Tyr380fs)	PCCA (Y354fs +2 more)	Duplication (frameshift variant +2 more)	Propionic acidemia	GPathogenic

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