Hcfc1 Variant Search Result - Rat Genome Database

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
151232445	CV1316788	single nucleotide variant	NM_005334.3(HCFC1):c.*50G>A	not provided [RCV001786608]	likely benign	X	153949297	153949297	Human		name
13540302	CV507984	single nucleotide variant	NM_005334.3(HCFC1):c.-25C>G	not specified [RCV000614506]	likely benign	X	153970865	153970865	Human		name
150506256	CV1257293	single nucleotide variant	NM_005334.3(HCFC1):c.*293C>T	not provided [RCV001678131]	benign	X	153949054	153949054	Human		name
8570596	CV48293	single nucleotide variant	NM_005334.3(HCFC1):c.-970T>C	Methylmalonic acidemia with homocystinuria, type cblX [RCV000032896]	pathogenic	X	153971810	153971810	Human	1	name
150334032	CV1164586	single nucleotide variant	NM_005334.3(HCFC1):c.713-3C>T	not provided [RCV001529244]	likely benign	X	153962309	153962309	Human		name
151663477	CV1333978	single nucleotide variant	NM_005334.3(HCFC1):c.503+6G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV001839152]\|not specified [RCV005238004]	uncertain significance	X	153964118	153964118	Human	1	name
152118556	CV1600546	single nucleotide variant	NM_005334.3(HCFC1):c.504-5G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV002153959]\|not specified [RCV005239292]	likely benign	X	153963438	153963438	Human	1	name
155943726	CV2032515	single nucleotide variant	NM_005334.3(HCFC1):c.343-7T>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV002730282]	likely benign	X	153964291	153964291	Human	1	name
10404496	CV208945	single nucleotide variant	NM_005334.3(HCFC1):c.905-3C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV001325203]\|not specified [RCV000195219]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	X	153960417	153960417	Human	1	name
405056053	CV2885633	single nucleotide variant	NM_005334.3(HCFC1):c.798-5C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522552]	likely benign	X	153961653	153961653	Human	1	name
405066665	CV2902595	single nucleotide variant	NM_005334.3(HCFC1):c.503+8T>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523544]	likely benign	X	153964116	153964116	Human	1	name
405181557	CV2972359	single nucleotide variant	NM_005334.3(HCFC1):c.193+7G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639710]	likely benign	X	153970641	153970641	Human	1	name
405184649	CV3002894	single nucleotide variant	NM_005334.3(HCFC1):c.797+9C>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640079]	likely benign	X	153962213	153962213	Human	1	name
405167706	CV3030173	single nucleotide variant	NM_005334.3(HCFC1):c.342+9G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638186]	likely benign	X	153964569	153964569	Human	1	name
405177853	CV3077113	single nucleotide variant	NM_005334.3(HCFC1):c.798-9C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639308]	likely benign	X	153961657	153961657	Human	1	name
404978704	CV3127368	single nucleotide variant	NM_005334.3(HCFC1):c.343-8T>C	Methylmalonic acidemia with homocystinuria, type cblX [RCV003825592]	likely benign	X	153964292	153964292	Human	1	name
405206750	CV3149291	single nucleotide variant	NM_005334.3(HCFC1):c.797+9C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003845201]	likely benign	X	153962213	153962213	Human	1	name
404986333	CV3179666	single nucleotide variant	NM_005334.3(HCFC1):c.905-9C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003881143]	likely benign	X	153960423	153960423	Human	1	name
596947329	CV3548880	single nucleotide variant	NM_005334.3(HCFC1):c.797+7G>T	not provided [RCV004811204]	uncertain significance	X	153962215	153962215	Human		name
597966494	CV3859123	single nucleotide variant	NM_005334.3(HCFC1):c.504-3C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV005194518]	uncertain significance	X	153963436	153963436	Human	1	name
13540421	CV507983	single nucleotide variant	NM_005334.3(HCFC1):c.503+3G>A	not specified [RCV000614673]	likely benign	X	153964121	153964121	Human		name
15163237	CV760873	single nucleotide variant	NM_005334.3(HCFC1):c.504-9C>T	HCFC1-related disorder [RCV003942869]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV001502351]	likely benign	X	153963442	153963442	Human	1	name , alternate_id
38458217	CV960367	single nucleotide variant	NM_005334.3(HCFC1):c.712+6C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV001228849]	uncertain significance	X	153963219	153963219	Human	1	name
127290272	CV1129509	single nucleotide variant	NM_005334.3(HCFC1):c.4942+8C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV001451179]	likely benign	X	153952506	153952506	Human	1	name
150338894	CV1167796	single nucleotide variant	NM_005334.3(HCFC1):c.904+53C>G	not provided [RCV001533844]	likely benign	X	153961489	153961489	Human		name
150338162	CV1173830	single nucleotide variant	NM_005334.3(HCFC1):c.4334-3C>T	not provided [RCV001542089]	uncertain significance	X	153953773	153953773	Human		name
150456631	CV1219513	single nucleotide variant	NM_005334.3(HCFC1):c.712+69G>A	not provided [RCV001612728]	benign	X	153963156	153963156	Human		name
150498388	CV1224129	single nucleotide variant	NM_005334.3(HCFC1):c.503+98C>T	not provided [RCV001620241]	benign	X	153964026	153964026	Human		name
150466088	CV1240349	single nucleotide variant	NM_005334.3(HCFC1):c.343-37C>T	not provided [RCV001650110]	benign	X	153964321	153964321	Human		name
152095818	CV1586723	single nucleotide variant	NM_005334.3(HCFC1):c.6069-5C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV002078330]	benign	X	153949391	153949391	Human	1	name
152036360	CV1605361	single nucleotide variant	NM_005334.3(HCFC1):c.1084+9G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV002107047]	likely benign	X	153960226	153960226	Human	1	name
156391871	CV1872948	single nucleotide variant	NM_005334.3(HCFC1):c.712+11T>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003051416]	likely benign	X	153963214	153963214	Human	1	name
156341540	CV1898855	single nucleotide variant	NM_005334.3(HCFC1):c.797+20C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003090393]	likely benign	X	153962202	153962202	Human	1	name
156053645	CV1935020	single nucleotide variant	NM_005334.3(HCFC1):c.193+16G>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003775561]\|not specified [RCV002510306]	likely benign\|uncertain significance	X	153970632	153970632	Human	1	name
156446634	CV1947979	single nucleotide variant	NM_005334.3(HCFC1):c.2353+6G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003118145]	uncertain significance	X	153957308	153957308	Human	1	name
10052519	CV194936	single nucleotide variant	NM_005334.3(HCFC1):c.713-13C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV001518352]\|not provided [RCV004713400]\|not specified [RCV000178905]	benign	X	153962319	153962319	Human	1	name
156416284	CV1984156	single nucleotide variant	NM_005334.3(HCFC1):c.504-13C>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV002610087]	likely benign	X	153963446	153963446	Human	1	name
10404634	CV208943	single nucleotide variant	NM_005334.3(HCFC1):c.1084+8C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638641]\|not specified [RCV000194817]	likely benign\|uncertain significance	X	153960227	153960227	Human	1	name
156020281	CV2118551	single nucleotide variant	NM_005334.3(HCFC1):c.5260+7G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV002948739]	likely benign	X	153951834	153951834	Human	1	name
401830516	CV2748213	single nucleotide variant	NM_005334.3(HCFC1):c.5260+4A>G	not provided [RCV003329820]	uncertain significance	X	153951837	153951837	Human		name
401924831	CV2805136	single nucleotide variant	NM_005334.3(HCFC1):c.5379+8G>A	not specified [RCV003404956]	uncertain significance	X	153951581	153951581	Human		name
405074295	CV2856428	single nucleotide variant	NM_005334.3(HCFC1):c.1445-8C>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524047]	likely benign	X	153959499	153959499	Human	1	name
405055240	CV2881808	single nucleotide variant	NM_005334.3(HCFC1):c.5379+7C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522492]\|not provided [RCV004574077]	likely benign	X	153951582	153951582	Human	1	name
405055718	CV2888429	single nucleotide variant	NM_005334.3(HCFC1):c.713-12G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522527]	benign	X	153962318	153962318	Human	1	name
404989442	CV2892841	single nucleotide variant	NM_005334.3(HCFC1):c.713-18C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524920]	benign	X	153962324	153962324	Human	1	name
405068694	CV2906867	single nucleotide variant	NM_005334.3(HCFC1):c.1445-7T>C	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523662]	likely benign	X	153959498	153959498	Human	1	name
405079683	CV2913660	single nucleotide variant	NM_005334.3(HCFC1):c.1084+7C>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524463]	likely benign	X	153960228	153960228	Human	1	name
405080146	CV2916430	single nucleotide variant	NM_005334.3(HCFC1):c.2134-9C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524503]	likely benign	X	153957542	153957542	Human	1	name
404987607	CV2924580	single nucleotide variant	NM_005334.3(HCFC1):c.5380-7C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524704]	likely benign	X	153951494	153951494	Human	1	name
405057581	CV2926602	single nucleotide variant	NM_005334.3(HCFC1):c.798-11C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522698]	likely benign	X	153961659	153961659	Human	1	name
405059514	CV2927486	single nucleotide variant	NM_005334.3(HCFC1):c.6005-5T>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522824]	likely benign	X	153949621	153949621	Human	1	name
405059282	CV2930108	single nucleotide variant	NM_005334.3(HCFC1):c.4497+9C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522807]	likely benign	X	153953598	153953598	Human	1	name
405057067	CV2932017	single nucleotide variant	NM_005334.3(HCFC1):c.2028+6T>C	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522655]	uncertain significance	X	153958019	153958019	Human	1	name
405174879	CV2943688	single nucleotide variant	NM_005334.3(HCFC1):c.2496+7C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639002]	likely benign	X	153956911	153956911	Human	1	name
405179598	CV2954262	duplication	NM_005334.3(HCFC1):c.193+15dup	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639487]	likely benign	X	153970632	153970633	Human	1	name
405180370	CV2962657	single nucleotide variant	NM_005334.3(HCFC1):c.713-17C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639568]	likely benign	X	153962323	153962323	Human	1	name
405181532	CV2975702	single nucleotide variant	NM_005334.3(HCFC1):c.343-10G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639706]	likely benign	X	153964294	153964294	Human	1	name
405183968	CV2983683	single nucleotide variant	NM_005334.3(HCFC1):c.194-19G>C	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639946]	likely benign	X	153964745	153964745	Human	1	name
405185184	CV2997208	single nucleotide variant	NM_005334.3(HCFC1):c.5380-8T>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640139]	likely benign	X	153951495	153951495	Human	1	name
405186599	CV3010966	single nucleotide variant	NM_005334.3(HCFC1):c.712+13G>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640300]	likely benign	X	153963212	153963212	Human	1	name
405186618	CV3011028	single nucleotide variant	NM_005334.3(HCFC1):c.6005-6T>C	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640303]	likely benign	X	153949622	153949622	Human	1	name
405186394	CV3013465	single nucleotide variant	NM_005334.3(HCFC1):c.2857-8C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640277]	likely benign	X	153955550	153955550	Human	1	name
405186566	CV3013997	single nucleotide variant	NM_005334.3(HCFC1):c.1804-9C>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640296]	likely benign	X	153958258	153958258	Human	1	name
405167545	CV3023113	single nucleotide variant	NM_005334.3(HCFC1):c.797+15A>C	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638172]	likely benign	X	153962207	153962207	Human	1	name
405186895	CV3028201	single nucleotide variant	NM_005334.3(HCFC1):c.797+13T>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640336]	likely benign	X	153962209	153962209	Human	1	name
405168104	CV3030751	single nucleotide variant	NM_005334.3(HCFC1):c.2635+9C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638220]	likely benign	X	153956616	153956616	Human	1	name
405168823	CV3033660	single nucleotide variant	NM_005334.3(HCFC1):c.1445-8C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638310]	likely benign	X	153959499	153959499	Human	1	name
405170571	CV3039989	single nucleotide variant	NM_005334.3(HCFC1):c.504-16G>C	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638344]	likely benign	X	153963449	153963449	Human	1	name
405169121	CV3042407	single nucleotide variant	NM_005334.3(HCFC1):c.194-20T>C	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638337]	likely benign	X	153964746	153964746	Human	1	name
405169694	CV3043329	single nucleotide variant	NM_005334.3(HCFC1):c.503+10G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638387]	likely benign	X	153964114	153964114	Human	1	name
405171160	CV3045770	single nucleotide variant	NM_005334.3(HCFC1):c.5261-5C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638520]	benign	X	153951712	153951712	Human	1	name
405169809	CV3046789	single nucleotide variant	NM_005334.3(HCFC1):c.1804-7C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638398]	likely benign	X	153958256	153958256	Human	1	name
405170962	CV3048777	single nucleotide variant	NM_005334.3(HCFC1):c.2497-9G>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638502]	benign	X	153956772	153956772	Human	1	name
405169497	CV3049671	single nucleotide variant	NM_005334.3(HCFC1):c.6069-8C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638370]	benign	X	153949394	153949394	Human	1	name
405170478	CV3051419	single nucleotide variant	NM_005334.3(HCFC1):c.342+11C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638457]	benign	X	153964567	153964567	Human	1	name
405169961	CV3054103	single nucleotide variant	NM_005334.3(HCFC1):c.4498-6C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638411]	likely benign	X	153952964	153952964	Human	1	name
405176356	CV3065837	single nucleotide variant	NM_005334.3(HCFC1):c.4942+7G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639150]	likely benign	X	153952507	153952507	Human	1	name
405172019	CV3067202	single nucleotide variant	NM_005334.3(HCFC1):c.5261-8C>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638573]	likely benign	X	153951715	153951715	Human	1	name
405177282	CV3073905	single nucleotide variant	NM_005334.3(HCFC1):c.4498-7C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639247]	benign	X	153952965	153952965	Human	1	name
405176903	CV3075598	single nucleotide variant	NM_005334.3(HCFC1):c.904+10C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639208]	likely benign	X	153961532	153961532	Human	1	name
405202849	CV3129280	single nucleotide variant	NM_005334.3(HCFC1):c.193+12G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003822133]	likely benign	X	153970636	153970636	Human	1	name
405121469	CV3131590	single nucleotide variant	NM_005334.3(HCFC1):c.798-15C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003837454]	likely benign	X	153961663	153961663	Human	1	name
405179680	CV3148814	single nucleotide variant	NM_005334.3(HCFC1):c.1085-6C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003858592]	likely benign	X	153960167	153960167	Human	1	name
405234093	CV3157998	single nucleotide variant	NM_005334.3(HCFC1):c.193+15C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003865754]	likely benign	X	153970633	153970633	Human	1	name
405235417	CV3166276	single nucleotide variant	NM_005334.3(HCFC1):c.904+20C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003853725]	likely benign	X	153961522	153961522	Human	1	name
405083288	CV3167079	single nucleotide variant	NM_005334.3(HCFC1):c.904+16G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003851658]	likely benign	X	153961526	153961526	Human	1	name
405227103	CV3169535	single nucleotide variant	NM_005334.3(HCFC1):c.2856+8A>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV003864559]	likely benign	X	153956183	153956183	Human	1	name
405252993	CV3178165	single nucleotide variant	NM_005334.3(HCFC1):c.5261-4C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003870945]	likely benign	X	153951711	153951711	Human	1	name
402515477	CV3178894	single nucleotide variant	NM_005334.3(HCFC1):c.4333+9A>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV003879327]	likely benign	X	153954057	153954057	Human	1	name
402509469	CV3182106	single nucleotide variant	NM_005334.3(HCFC1):c.904+13C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003878759]	likely benign	X	153961529	153961529	Human	1	name
405261500	CV3186122	single nucleotide variant	NM_005334.3(HCFC1):c.1803+6C>T	not provided [RCV003885198]	likely benign	X	153958563	153958563	Human		name
597907152	CV3773175	single nucleotide variant	NM_005334.3(HCFC1):c.2636-6C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV005113240]	likely benign	X	153956417	153956417	Human	1	name
597928586	CV3779756	single nucleotide variant	NM_005334.3(HCFC1):c.194-19G>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV005116285]	likely benign	X	153964745	153964745	Human	1	name
597932965	CV3780842	single nucleotide variant	NM_005334.3(HCFC1):c.713-10C>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV005116954]	likely benign	X	153962316	153962316	Human	1	name
597966612	CV3794273	single nucleotide variant	NM_005334.3(HCFC1):c.2133+7T>C	Methylmalonic acidemia with homocystinuria, type cblX [RCV005140449]	likely benign	X	153957775	153957775	Human	1	name
597940125	CV3818788	single nucleotide variant	NM_005334.3(HCFC1):c.2856+7C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV005158794]	benign	X	153956184	153956184	Human	1	name
597847433	CV3827990	single nucleotide variant	NM_005334.3(HCFC1):c.2636-7C>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV005173065]	likely benign	X	153956418	153956418	Human	1	name
597882184	CV3834033	single nucleotide variant	NM_005334.3(HCFC1):c.503+18T>C	Methylmalonic acidemia with homocystinuria, type cblX [RCV005178352]	likely benign	X	153964106	153964106	Human	1	name
13462400	CV438810	single nucleotide variant	NM_005334.3(HCFC1):c.503+14C>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV001511495]\|not provided [RCV000514082]\|not specified [RCV000613088]	benign\|likely benign	X	153964110	153964110	Human	1	name
13536573	CV507841	single nucleotide variant	NM_005334.3(HCFC1):c.4942+9C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638689]\|not specified [RCV000609194]	likely benign	X	153952505	153952505	Human	1	name
15135366	CV745382	single nucleotide variant	NM_005334.3(HCFC1):c.2029-9C>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV002539465]	benign	X	153957895	153957895	Human	1	name
15114716	CV760838	single nucleotide variant	NM_005334.3(HCFC1):c.6069-4C>T	not provided [RCV000917327]	likely benign	X	153949390	153949390	Human		name
15125369	CV760842	single nucleotide variant	NM_005334.3(HCFC1):c.1803+7G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV002065925]	likely benign	X	153958562	153958562	Human	1	name
21075215	CV798208	single nucleotide variant	NM_005334.3(HCFC1):c.4497+4A>G	Inborn genetic diseases [RCV004629400]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV002067613]\|not provided [RCV000996054]	benign\|likely benign\|uncertain significance	X	153953603	153953603	Human	2	name
127322667	CV1159471	single nucleotide variant	NM_005334.3(HCFC1):c.5379+20G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV001523612]	benign	X	153951569	153951569	Human	1	name
150418399	CV1195717	duplication	NM_005334.3(HCFC1):c.5703+70dup	not provided [RCV001569199]	likely benign	X	153950734	153950735	Human		name
150417791	CV1195718	single nucleotide variant	NM_005334.3(HCFC1):c.2496+42C>T	not provided [RCV001568925]	likely benign	X	153956876	153956876	Human		name
150407024	CV1195720	single nucleotide variant	NM_005334.3(HCFC1):c.712+222A>G	not provided [RCV001572215]	likely benign	X	153963003	153963003	Human		name
150417912	CV1199440	single nucleotide variant	NM_005334.3(HCFC1):c.193+185G>C	not provided [RCV001576513]	likely benign	X	153970463	153970463	Human		name
150432861	CV1200851	single nucleotide variant	NM_005334.3(HCFC1):c.713-269C>A	not provided [RCV001581575]	likely benign	X	153962575	153962575	Human		name
150483696	CV1210176	single nucleotide variant	NM_005334.3(HCFC1):c.2353+22T>C	not provided [RCV001590875]	likely benign	X	153957292	153957292	Human		name
150444747	CV1216670	single nucleotide variant	NM_005334.3(HCFC1):c.342+116T>C	not provided [RCV001610970]	benign	X	153964462	153964462	Human		name
150469182	CV1243115	single nucleotide variant	NM_005334.3(HCFC1):c.1445-41G>A	not provided [RCV001650634]	benign	X	153959532	153959532	Human		name
150441479	CV1246740	single nucleotide variant	NM_005334.3(HCFC1):c.5261-33A>C	not provided [RCV001666394]	benign	X	153951740	153951740	Human		name
150498314	CV1281932	single nucleotide variant	NM_005334.3(HCFC1):c.5704-42C>T	not provided [RCV001717998]	benign	X	153950585	153950585	Human		name
150479662	CV1282348	single nucleotide variant	NM_005334.3(HCFC1):c.5261-41G>A	not provided [RCV001714503]	benign	X	153951748	153951748	Human		name
150498964	CV1282405	single nucleotide variant	NM_005334.3(HCFC1):c.713-101C>G	not provided [RCV001718109]	benign	X	153962407	153962407	Human		name
150489102	CV1284168	single nucleotide variant	NM_005334.3(HCFC1):c.4333+91C>T	not provided [RCV001716218]	benign	X	153953975	153953975	Human		name
150505733	CV1286265	single nucleotide variant	NM_005334.3(HCFC1):c.5380-38T>G	not provided [RCV001719691]	benign	X	153951525	153951525	Human		name
150509878	CV1286269	single nucleotide variant	NM_005334.3(HCFC1):c.2635+22C>T	not provided [RCV001720797]	benign	X	153956603	153956603	Human		name
150509882	CV1286271	single nucleotide variant	NM_005334.3(HCFC1):c.2029-49C>T	not provided [RCV001720799]	benign	X	153957935	153957935	Human		name
150442668	CV1287762	single nucleotide variant	NM_005334.3(HCFC1):c.2856+74C>T	not provided [RCV001725483]	benign	X	153956117	153956117	Human		name
150548669	CV1316461	single nucleotide variant	NM_005334.3(HCFC1):c.2133+68T>C	not provided [RCV001786263]	likely benign	X	153957714	153957714	Human		name
152171537	CV1544233	single nucleotide variant	NM_005334.3(HCFC1):c.1605+11G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV002162148]	likely benign	X	153959320	153959320	Human	1	name
152121516	CV1562513	single nucleotide variant	NM_005334.3(HCFC1):c.1803+13C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV002098218]	benign	X	153958556	153958556	Human	1	name
152173790	CV1568528	single nucleotide variant	NM_005334.3(HCFC1):c.1085-15T>C	Methylmalonic acidemia with homocystinuria, type cblX [RCV002184293]	likely benign	X	153960176	153960176	Human	1	name
152163886	CV1575532	single nucleotide variant	NM_005334.3(HCFC1):c.6069-16T>C	Methylmalonic acidemia with homocystinuria, type cblX [RCV002181424]	likely benign	X	153949402	153949402	Human	1	name
152062582	CV1587579	single nucleotide variant	NM_005334.3(HCFC1):c.2857-20C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV002090435]	likely benign	X	153955562	153955562	Human	1	name
152049590	CV1618509	single nucleotide variant	NM_005334.3(HCFC1):c.6068+13C>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV002166698]	likely benign	X	153949540	153949540	Human	1	name
152080280	CV1620696	single nucleotide variant	NM_005334.3(HCFC1):c.4943-11C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV002112653]\|not provided [RCV003883769]	benign\|likely benign	X	153952169	153952169	Human	1	name
156308788	CV1877996	deletion	NM_005334.3(HCFC1):c.2029-12del	Methylmalonic acidemia with homocystinuria, type cblX [RCV003062331]	likely benign	X	153957898	153957898	Human	1	name
156036632	CV1932789	single nucleotide variant	NM_005334.3(HCFC1):c.4497+18C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV002637400]	likely benign	X	153953589	153953589	Human	1	name
156309894	CV1973140	single nucleotide variant	NM_005334.3(HCFC1):c.1444+10G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV002578631]	likely benign	X	153959792	153959792	Human	1	name
156415341	CV1990975	single nucleotide variant	NM_005334.3(HCFC1):c.6068+20C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV002609622]	benign	X	153949533	153949533	Human	1	name
156011714	CV2079877	single nucleotide variant	NM_005334.3(HCFC1):c.2636-10T>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV002866143]	likely benign	X	153956421	153956421	Human	1	name
156211820	CV2142013	single nucleotide variant	NM_005334.3(HCFC1):c.5260+17G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV002985622]	likely benign	X	153951824	153951824	Human	1	name
156301076	CV2149830	single nucleotide variant	NM_005334.3(HCFC1):c.5704-11C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003028095]	likely benign	X	153950554	153950554	Human	1	name
155909355	CV2156819	single nucleotide variant	NM_005334.3(HCFC1):c.1804-14T>C	Methylmalonic acidemia with homocystinuria, type cblX [RCV003012136]	likely benign	X	153958263	153958263	Human	1	name
156258971	CV2159391	single nucleotide variant	NM_005334.3(HCFC1):c.1085-20C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003026595]	likely benign	X	153960181	153960181	Human	1	name
11641133	CV271350	single nucleotide variant	NM_005334.3(HCFC1):c.1085-12G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV001513318]\|not provided [RCV004713477]\|not specified [RCV000350506]	benign	X	153960173	153960173	Human	1	name
405063209	CV2853951	single nucleotide variant	NM_005334.3(HCFC1):c.5380-20G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523250]	benign	X	153951507	153951507	Human	1	name
405063559	CV2854289	single nucleotide variant	NM_005334.3(HCFC1):c.1444+14C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523304]	likely benign	X	153959788	153959788	Human	1	name
405065204	CV2857295	single nucleotide variant	NM_005334.3(HCFC1):c.1606-11G>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523233]	likely benign	X	153958777	153958777	Human	1	name
405072045	CV2862004	single nucleotide variant	NM_005334.3(HCFC1):c.1605+11G>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523917]	likely benign	X	153959320	153959320	Human	1	name
405073672	CV2866009	single nucleotide variant	NM_005334.3(HCFC1):c.2496+20C>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524006]	likely benign	X	153956898	153956898	Human	1	name
405078613	CV2868821	single nucleotide variant	NM_005334.3(HCFC1):c.2029-18C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524366]	likely benign	X	153957904	153957904	Human	1	name
405078396	CV2875821	single nucleotide variant	NM_005334.3(HCFC1):c.2354-16C>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524349]	likely benign	X	153957076	153957076	Human	1	name
405075241	CV2877285	single nucleotide variant	NM_005334.3(HCFC1):c.1445-17G>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524114]	likely benign	X	153959508	153959508	Human	1	name
405051655	CV2880021	single nucleotide variant	NM_005334.3(HCFC1):c.6069-20T>C	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522192]	benign	X	153949406	153949406	Human	1	name
404990288	CV2882884	single nucleotide variant	NM_005334.3(HCFC1):c.4942+17C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524984]	likely benign	X	153952497	153952497	Human	1	name
404990471	CV2883130	single nucleotide variant	NM_005334.3(HCFC1):c.4334-10G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003525003]	benign	X	153953780	153953780	Human	1	name
405053179	CV2884393	single nucleotide variant	NM_005334.3(HCFC1):c.4334-16C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522322]	likely benign	X	153953786	153953786	Human	1	name
405053726	CV2884589	single nucleotide variant	NM_005334.3(HCFC1):c.6068+15C>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522393]	likely benign	X	153949538	153949538	Human	1	name
405055695	CV2888426	single nucleotide variant	NM_005334.3(HCFC1):c.2857-14G>C	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522525]	benign	X	153955556	153955556	Human	1	name
404989859	CV2889467	single nucleotide variant	NM_005334.3(HCFC1):c.4943-14C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524939]	likely benign	X	153952172	153952172	Human	1	name
405053529	CV2891119	single nucleotide variant	NM_005334.3(HCFC1):c.5380-15G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522353]	likely benign	X	153951502	153951502	Human	1	name
405055347	CV2891908	single nucleotide variant	NM_005334.3(HCFC1):c.1084+18G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522501]	likely benign	X	153960217	153960217	Human	1	name
405058087	CV2892500	single nucleotide variant	NM_005334.3(HCFC1):c.6005-13C>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522596]	likely benign	X	153949629	153949629	Human	1	name
404990675	CV2893333	single nucleotide variant	NM_005334.3(HCFC1):c.2028+18C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003525025]	benign	X	153958007	153958007	Human	1	name
405067373	CV2906580	single nucleotide variant	NM_005334.3(HCFC1):c.2636-18T>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523597]	likely benign	X	153956429	153956429	Human	1	name
405079767	CV2909121	single nucleotide variant	NM_005334.3(HCFC1):c.2029-12C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524470]	likely benign	X	153957898	153957898	Human	1	name
405071390	CV2912484	single nucleotide variant	NM_005334.3(HCFC1):c.2354-15C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523848]	likely benign	X	153957075	153957075	Human	1	name
405079569	CV2913480	single nucleotide variant	NM_005334.3(HCFC1):c.1084+17C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524451]	benign	X	153960218	153960218	Human	1	name
405079614	CV2913520	single nucleotide variant	NM_005334.3(HCFC1):c.4943-11C>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524455]	likely benign	X	153952169	153952169	Human	1	name
405079661	CV2913630	single nucleotide variant	NM_005334.3(HCFC1):c.2134-20C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524460]	likely benign	X	153957553	153957553	Human	1	name
404986078	CV2913996	single nucleotide variant	NM_005334.3(HCFC1):c.2134-14C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524527]	likely benign	X	153957547	153957547	Human	1	name
405079389	CV2919438	single nucleotide variant	NM_005334.3(HCFC1):c.4942+17C>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524434]	likely benign	X	153952497	153952497	Human	1	name
404986334	CV2920393	single nucleotide variant	NM_005334.3(HCFC1):c.4943-18C>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524554]	likely benign	X	153952176	153952176	Human	1	name
405056975	CV2922499	single nucleotide variant	NM_005334.3(HCFC1):c.2635+12T>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522647]	likely benign	X	153956613	153956613	Human	1	name
404987695	CV2924790	single nucleotide variant	NM_005334.3(HCFC1):c.4334-13G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524713]	likely benign	X	153953783	153953783	Human	1	name
405058338	CV2929335	single nucleotide variant	NM_005334.3(HCFC1):c.2354-14A>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522738]	likely benign	X	153957074	153957074	Human	1	name
405058246	CV2932578	single nucleotide variant	NM_005334.3(HCFC1):c.4942+20T>C	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522730]	likely benign	X	153952494	153952494	Human	1	name
405178737	CV2939059	single nucleotide variant	NM_005334.3(HCFC1):c.2028+17G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639401]	likely benign	X	153958008	153958008	Human	1	name
405178997	CV2949407	single nucleotide variant	NM_005334.3(HCFC1):c.4334-20C>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639427]	likely benign	X	153953790	153953790	Human	1	name
405179407	CV2950330	single nucleotide variant	NM_005334.3(HCFC1):c.6068+19T>C	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639468]	likely benign	X	153949534	153949534	Human	1	name
405181348	CV2952268	single nucleotide variant	NM_005334.3(HCFC1):c.5704-11C>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639564]	likely benign	X	153950554	153950554	Human	1	name
405179327	CV2953557	single nucleotide variant	NM_005334.3(HCFC1):c.6004+14G>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639460]	benign	X	153950229	153950229	Human	1	name
405180135	CV2955489	single nucleotide variant	NM_005334.3(HCFC1):c.2134-18C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639542]	likely benign	X	153957551	153957551	Human	1	name
405180289	CV2959447	single nucleotide variant	NM_005334.3(HCFC1):c.4497+16G>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639559]	likely benign	X	153953591	153953591	Human	1	name
405179878	CV2961302	single nucleotide variant	NM_005334.3(HCFC1):c.4334-15C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639516]	likely benign	X	153953785	153953785	Human	1	name
405182059	CV2963389	single nucleotide variant	NM_005334.3(HCFC1):c.2133+10C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639608]	likely benign	X	153957772	153957772	Human	1	name
405181826	CV2973171	single nucleotide variant	NM_005334.3(HCFC1):c.5704-14C>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639744]	likely benign	X	153950557	153950557	Human	1	name
405182148	CV2973453	single nucleotide variant	NM_005334.3(HCFC1):c.1606-16C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639760]	likely benign	X	153958782	153958782	Human	1	name
405182153	CV2973473	single nucleotide variant	NM_005334.3(HCFC1):c.5703+19T>C	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639761]	likely benign	X	153950794	153950794	Human	1	name
405180969	CV2974479	single nucleotide variant	NM_005334.3(HCFC1):c.4498-12G>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639637]	likely benign	X	153952970	153952970	Human	1	name
405181766	CV2976077	single nucleotide variant	NM_005334.3(HCFC1):c.2636-14C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639736]	likely benign	X	153956425	153956425	Human	1	name
405182448	CV2985076	single nucleotide variant	NM_005334.3(HCFC1):c.4942+20T>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639822]	likely benign	X	153952494	153952494	Human	1	name
405182559	CV2988422	single nucleotide variant	NM_005334.3(HCFC1):c.2133+20A>C	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639836]	likely benign	X	153957762	153957762	Human	1	name
405185254	CV2994063	single nucleotide variant	NM_005334.3(HCFC1):c.1084+20C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640147]	likely benign	X	153960215	153960215	Human	1	name
405184556	CV2996131	single nucleotide variant	NM_005334.3(HCFC1):c.2353+20T>C	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640069]	likely benign	X	153957294	153957294	Human	1	name
405184257	CV2998953	single nucleotide variant	NM_005334.3(HCFC1):c.1445-20C>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640032]	likely benign	X	153959511	153959511	Human	1	name
405184456	CV2999590	single nucleotide variant	NM_005334.3(HCFC1):c.5703+11C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640058]	likely benign	X	153950802	153950802	Human	1	name
405183825	CV3001415	single nucleotide variant	NM_005334.3(HCFC1):c.1803+15G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640000]	likely benign	X	153958554	153958554	Human	1	name
405184199	CV3001831	single nucleotide variant	NM_005334.3(HCFC1):c.1085-17A>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640025]	likely benign	X	153960178	153960178	Human	1	name
405184378	CV3002378	single nucleotide variant	NM_005334.3(HCFC1):c.2353+19A>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640048]	likely benign	X	153957295	153957295	Human	1	name
405185330	CV3004337	single nucleotide variant	NM_005334.3(HCFC1):c.6004+16G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640155]	likely benign	X	153950227	153950227	Human	1	name
405186591	CV3010849	single nucleotide variant	NM_005334.3(HCFC1):c.2636-15C>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640299]	likely benign	X	153956426	153956426	Human	1	name
405185642	CV3015149	single nucleotide variant	NM_005334.3(HCFC1):c.5518-10C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640190]	likely benign	X	153951008	153951008	Human	1	name
405185834	CV3015690	single nucleotide variant	NM_005334.3(HCFC1):c.5261-12C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640213]	likely benign	X	153951719	153951719	Human	1	name
405168215	CV3020967	single nucleotide variant	NM_005334.3(HCFC1):c.6068+11A>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638230]	likely benign	X	153949542	153949542	Human	1	name
405167618	CV3023340	single nucleotide variant	NM_005334.3(HCFC1):c.1445-11T>C	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638178]	likely benign	X	153959502	153959502	Human	1	name
405186905	CV3028250	deletion	NM_005334.3(HCFC1):c.5703+18del	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640337]	benign	X	153950795	153950795	Human	1	name
405187129	CV3028655	single nucleotide variant	NM_005334.3(HCFC1):c.2635+10C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640362]	likely benign	X	153956615	153956615	Human	1	name
405167080	CV3029466	single nucleotide variant	NM_005334.3(HCFC1):c.6004+10C>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638158]	likely benign	X	153950233	153950233	Human	1	name
405168445	CV3032469	single nucleotide variant	NM_005334.3(HCFC1):c.5380-13T>C	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638276]	likely benign	X	153951500	153951500	Human	1	name
405168489	CV3035130	single nucleotide variant	NM_005334.3(HCFC1):c.5517+20G>C	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638256]	benign	X	153951330	153951330	Human	1	name
405169295	CV3037288	single nucleotide variant	NM_005334.3(HCFC1):c.5704-15C>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638351]	likely benign	X	153950558	153950558	Human	1	name
405169716	CV3043535	single nucleotide variant	NM_005334.3(HCFC1):c.4943-20T>C	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638389]	likely benign	X	153952178	153952178	Human	1	name
405171464	CV3056585	single nucleotide variant	NM_005334.3(HCFC1):c.5703+14T>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638548]	likely benign	X	153950799	153950799	Human	1	name
405173436	CV3057587	single nucleotide variant	NM_005334.3(HCFC1):c.5517+10C>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638600]	likely benign	X	153951340	153951340	Human	1	name
405176573	CV3062117	single nucleotide variant	NM_005334.3(HCFC1):c.1606-14C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639124]	likely benign	X	153958780	153958780	Human	1	name
405176649	CV3078237	single nucleotide variant	NM_005334.3(HCFC1):c.6004+13C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639182]	likely benign	X	153950230	153950230	Human	1	name
405132603	CV3115217	single nucleotide variant	NM_005334.3(HCFC1):c.1085-12G>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003816062]	likely benign	X	153960173	153960173	Human	1	name
405210914	CV3117734	single nucleotide variant	NM_005334.3(HCFC1):c.2496+14A>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV003823333]	likely benign	X	153956904	153956904	Human	1	name
405089764	CV3118436	single nucleotide variant	NM_005334.3(HCFC1):c.5380-16C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003811078]	likely benign	X	153951503	153951503	Human	1	name
405102680	CV3119496	single nucleotide variant	NM_005334.3(HCFC1):c.4943-16C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003811758]	likely benign	X	153952174	153952174	Human	1	name
405181904	CV3120008	single nucleotide variant	NM_005334.3(HCFC1):c.1606-17G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003820101]	likely benign	X	153958783	153958783	Human	1	name
404999464	CV3120175	single nucleotide variant	NM_005334.3(HCFC1):c.6068+14C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003827965]	likely benign	X	153949539	153949539	Human	1	name
405001097	CV3120340	single nucleotide variant	NM_005334.3(HCFC1):c.4497+16G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003828130]	likely benign	X	153953591	153953591	Human	1	name
405017663	CV3124899	single nucleotide variant	NM_005334.3(HCFC1):c.4497+19G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003829524]	likely benign	X	153953588	153953588	Human	1	name
405137954	CV3125416	single nucleotide variant	NM_005334.3(HCFC1):c.2497-16T>C	Methylmalonic acidemia with homocystinuria, type cblX [RCV003816523]	likely benign	X	153956779	153956779	Human	1	name
405205702	CV3126662	single nucleotide variant	NM_005334.3(HCFC1):c.5379+15T>C	Methylmalonic acidemia with homocystinuria, type cblX [RCV003822596]	likely benign	X	153951574	153951574	Human	1	name
405027618	CV3129771	single nucleotide variant	NM_005334.3(HCFC1):c.2635+15G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003830369]	likely benign	X	153956610	153956610	Human	1	name
404990352	CV3131990	single nucleotide variant	NM_005334.3(HCFC1):c.2353+16G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003827119]	likely benign	X	153957298	153957298	Human	1	name
405198053	CV3132049	single nucleotide variant	NM_005334.3(HCFC1):c.5518-18C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003821642]	likely benign	X	153951016	153951016	Human	1	name
405110505	CV3133154	single nucleotide variant	NM_005334.3(HCFC1):c.4498-20C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003836140]	likely benign	X	153952978	153952978	Human	1	name
404988909	CV3135627	single nucleotide variant	NM_005334.3(HCFC1):c.1606-15C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003826922]	likely benign	X	153958781	153958781	Human	1	name
405047416	CV3137824	single nucleotide variant	NM_005334.3(HCFC1):c.5261-15C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003831862]	likely benign	X	153951722	153951722	Human	1	name
405196985	CV3138771	single nucleotide variant	NM_005334.3(HCFC1):c.1085-12G>C	Methylmalonic acidemia with homocystinuria, type cblX [RCV003821587]	likely benign	X	153960173	153960173	Human	1	name
405045755	CV3141640	single nucleotide variant	NM_005334.3(HCFC1):c.6005-16C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003831741]	likely benign	X	153949632	153949632	Human	1	name
405172296	CV3151776	duplication	NM_005334.3(HCFC1):c.2133+11dup	Methylmalonic acidemia with homocystinuria, type cblX [RCV003857927]	likely benign	X	153957770	153957771	Human	1	name
405246247	CV3158115	single nucleotide variant	NM_005334.3(HCFC1):c.5380-19C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003868650]\|not provided [RCV004703336]	likely benign	X	153951506	153951506	Human	1	name
405158666	CV3159822	deletion	NM_005334.3(HCFC1):c.5379+10del	Methylmalonic acidemia with homocystinuria, type cblX [RCV003856893]	likely benign	X	153951579	153951579	Human	1	name
405163261	CV3160341	single nucleotide variant	NM_005334.3(HCFC1):c.6005-11G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003857220]	likely benign	X	153949627	153949627	Human	1	name
405217431	CV3160971	single nucleotide variant	NM_005334.3(HCFC1):c.5704-13C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003863033]	likely benign	X	153950556	153950556	Human	1	name
405208592	CV3162480	single nucleotide variant	NM_005334.3(HCFC1):c.4334-11C>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV003861779]	likely benign	X	153953781	153953781	Human	1	name
405157189	CV3163546	single nucleotide variant	NM_005334.3(HCFC1):c.2496+12C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003856792]	likely benign	X	153956906	153956906	Human	1	name
405193500	CV3167570	single nucleotide variant	NM_005334.3(HCFC1):c.2029-14C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003859976]	likely benign	X	153957900	153957900	Human	1	name
402499945	CV3170469	single nucleotide variant	NM_005334.3(HCFC1):c.2857-18C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003877841]	likely benign	X	153955560	153955560	Human	1	name
402481480	CV3170807	single nucleotide variant	NM_005334.3(HCFC1):c.2496+17C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003876010]	likely benign	X	153956901	153956901	Human	1	name
405255624	CV3172605	single nucleotide variant	NM_005334.3(HCFC1):c.6005-13C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003872543]	likely benign	X	153949629	153949629	Human	1	name
404997484	CV3172894	single nucleotide variant	NM_005334.3(HCFC1):c.1605+18G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003882176]	likely benign	X	153959313	153959313	Human	1	name
402519418	CV3175345	single nucleotide variant	NM_005334.3(HCFC1):c.4943-18C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003879628]	likely benign	X	153952176	153952176	Human	1	name
405230121	CV3176725	single nucleotide variant	NM_005334.3(HCFC1):c.1444+18G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003865099]	likely benign	X	153959784	153959784	Human	1	name
405252422	CV3177963	single nucleotide variant	NM_005334.3(HCFC1):c.2354-20G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003870743]	likely benign	X	153957080	153957080	Human	1	name
405253545	CV3178540	deletion	NM_005334.3(HCFC1):c.1803+13del	Methylmalonic acidemia with homocystinuria, type cblX [RCV003871141]	likely benign	X	153958556	153958556	Human	1	name
402517246	CV3179033	single nucleotide variant	NM_005334.3(HCFC1):c.2856+17G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003879466]	likely benign	X	153956174	153956174	Human	1	name
402518252	CV3179085	single nucleotide variant	NM_005334.3(HCFC1):c.5260+16C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003879518]	benign	X	153951825	153951825	Human	1	name
404987030	CV3179716	single nucleotide variant	NM_005334.3(HCFC1):c.2353+15C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003881193]	likely benign	X	153957299	153957299	Human	1	name
402487179	CV3181886	single nucleotide variant	NM_005334.3(HCFC1):c.2496+18G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003876555]	benign	X	153956900	153956900	Human	1	name
407476718	CV3494992	single nucleotide variant	NM_005334.3(HCFC1):c.4334-16C>G	not specified [RCV004690893]	likely benign	X	153953786	153953786	Human		name
596928850	CV3540585	single nucleotide variant	NM_005334.3(HCFC1):c.4498-10C>T	not provided [RCV004794913]	uncertain significance	X	153952968	153952968	Human		name
597860451	CV3748676	single nucleotide variant	NM_005334.3(HCFC1):c.1085-13C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV005067308]	likely benign	X	153960174	153960174	Human	1	name
597948605	CV3772172	single nucleotide variant	NM_005334.3(HCFC1):c.5704-10T>C	Methylmalonic acidemia with homocystinuria, type cblX [RCV005120491]	likely benign	X	153950553	153950553	Human	1	name
12833494	CV379009	single nucleotide variant	NM_005334.3(HCFC1):c.6004+14G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV002521767]\|not specified [RCV000418614]	benign\|likely benign	X	153950229	153950229	Human	1	name
12842983	CV379032	single nucleotide variant	NM_005334.3(HCFC1):c.1605+20G>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV002062461]\|not provided [RCV004713958]\|not specified [RCV000435401]	benign	X	153959311	153959311	Human	1	name
12836465	CV379033	single nucleotide variant	NM_005334.3(HCFC1):c.1445-14C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV002062537]\|not provided [RCV004713962]\|not specified [RCV000423437]	benign	X	153959505	153959505	Human	1	name
12841881	CV379101	single nucleotide variant	NM_005334.3(HCFC1):c.6005-12C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV002063358]\|not specified [RCV000433373]	benign	X	153949628	153949628	Human	1	name
597969047	CV3791087	single nucleotide variant	NM_005334.3(HCFC1):c.2636-16G>C	Methylmalonic acidemia with homocystinuria, type cblX [RCV005141119]	likely benign	X	153956427	153956427	Human	1	name
12834970	CV379115	single nucleotide variant	NM_005334.3(HCFC1):c.1605+16T>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV002058970]\|not specified [RCV000420868]	likely benign	X	153959315	153959315	Human	1	name
12841874	CV379960	single nucleotide variant	NM_005334.3(HCFC1):c.6005-12C>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV002524876]\|not specified [RCV000433362]	benign\|likely benign	X	153949628	153949628	Human	1	name
12844790	CV379970	single nucleotide variant	NM_005334.3(HCFC1):c.1804-18C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV002525435]\|not specified [RCV000438615]	benign\|likely benign	X	153958267	153958267	Human	1	name
12836133	CV379972	single nucleotide variant	NM_005334.3(HCFC1):c.1085-16C>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV002062775]\|not specified [RCV000422878]	benign\|likely benign	X	153960177	153960177	Human	1	name
597906204	CV3803927	single nucleotide variant	NM_005334.3(HCFC1):c.4333+16C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV005153472]	likely benign	X	153954050	153954050	Human	1	name
13528976	CV507940	single nucleotide variant	NM_005334.3(HCFC1):c.5517+16T>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV002062905]\|not specified [RCV000600176]	likely benign	X	153951334	153951334	Human	1	name
13529876	CV507944	single nucleotide variant	NM_005334.3(HCFC1):c.5260+17G>C	not specified [RCV000600475]	likely benign	X	153951824	153951824	Human		name
13539724	CV507972	single nucleotide variant	NM_005334.3(HCFC1):c.2856+15G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638696]\|not specified [RCV000613672]	likely benign	X	153956176	153956176	Human	1	name
13592637	CV508391	single nucleotide variant	NM_005334.3(HCFC1):c.5261-17A>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV002065271]\|not specified [RCV000605541]	benign\|likely benign	X	153951724	153951724	Human	1	name
13527531	CV508393	single nucleotide variant	NM_005334.3(HCFC1):c.4333+11G>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638691]\|not specified [RCV000605212]	likely benign	X	153954055	153954055	Human	1	name
13525451	CV508399	single nucleotide variant	NM_005334.3(HCFC1):c.2636-16G>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522994]\|not specified [RCV000603182]	likely benign	X	153956427	153956427	Human	1	name
13525250	CV508544	single nucleotide variant	NM_005334.3(HCFC1):c.6005-18C>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV002529670]\|not specified [RCV000602908]	benign\|likely benign	X	153949634	153949634	Human	1	name
13538430	CV508556	single nucleotide variant	NM_005334.3(HCFC1):c.1084+18G>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003767625]\|not specified [RCV000611823]	likely benign	X	153960217	153960217	Human	1	name
14708023	CV669875	single nucleotide variant	NM_005334.3(HCFC1):c.2134-20C>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638713]\|not provided [RCV000827012]	benign\|likely benign	X	153957553	153957553	Human	1	name
14744289	CV670753	single nucleotide variant	NM_005334.3(HCFC1):c.2029-17C>T	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638716]\|not provided [RCV000842654]	likely benign	X	153957903	153957903	Human	1	name
14730322	CV670850	single nucleotide variant	NM_005334.3(HCFC1):c.1085-22C>G	Methylmalonic acidemia with homocystinuria, type cblX [RCV001702565]\|not provided [RCV000835624]	benign	X	153960183	153960183	Human	1	name
14719293	CV670853	single nucleotide variant	NM_005334.3(HCFC1):c.797+247T>C	not provided [RCV000830710]	benign	X	153961975	153961975	Human		name
14744008	CV671064	single nucleotide variant	NM_005334.3(HCFC1):c.4942+11G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV002538330]\|not provided [RCV000842468]	benign\|likely benign	X	153952503	153952503	Human	1	name
14705749	CV671065	single nucleotide variant	NM_005334.3(HCFC1):c.1606-13G>A	Methylmalonic acidemia with homocystinuria, type cblX [RCV002067427]\|not provided [RCV000826295]	benign\|likely benign	X	153958779	153958779	Human	1	name
150412247	CV1178696	single nucleotide variant	NM_005334.3(HCFC1):c.1605+106C>A	not provided [RCV001547469]	likely benign	X	153959225	153959225	Human		name
150460942	CV1231414	single nucleotide variant	NM_005334.3(HCFC1):c.4497+138C>T	not provided [RCV001640979]	benign	X	153953469	153953469	Human		name
150462493	CV1234921	single nucleotide variant	NM_005334.3(HCFC1):c.6005-278C>T	not provided [RCV001649503]	benign	X	153949894	153949894	Human		name
150440279	CV1247836	single nucleotide variant	NM_005334.3(HCFC1):c.4497+304G>A	not provided [RCV001666203]	benign	X	153953303	153953303	Human		name
150498586	CV1255604	single nucleotide variant	NM_005334.3(HCFC1):c.2856+266G>A	not provided [RCV001676392]	benign	X	153955925	153955925	Human		name
150472495	CV1259305	single nucleotide variant	NM_005334.3(HCFC1):c.2856+304C>T	not provided [RCV001684551]	benign	X	153955887	153955887	Human		name
150461379	CV1264302	single nucleotide variant	NM_005334.3(HCFC1):c.1605+193C>T	not provided [RCV001682219]	benign	X	153959138	153959138	Human		name
150465395	CV1268603	single nucleotide variant	NM_005334.3(HCFC1):c.1606-260G>A	not provided [RCV001694299]	benign	X	153959026	153959026	Human		name
150494009	CV1282404	single nucleotide variant	NM_005334.3(HCFC1):c.1804-145G>A	not provided [RCV001717122]	benign	X	153958394	153958394	Human		name
156283582	CV2104370	microsatellite	NM_005334.3(HCFC1):c.712+9GGT[3]	Methylmalonic acidemia with homocystinuria, type cblX [RCV002921868]	likely benign	X	153963210	153963211	Human		name
405078781	CV3166650	microsatellite	NM_005334.3(HCFC1):c.713-10CT[2]	Methylmalonic acidemia with homocystinuria, type cblX [RCV003851424]	likely benign	X	153962311	153962312	Human		name
11653749	CV274288	microsatellite	NM_005334.3(HCFC1):c.2857-23CTC[2]	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522956]\|not provided [RCV000312798]	likely benign\|uncertain significance	X	153955557	153955559	Human		name
405187058	CV3021953	microsatellite	NM_005334.3(HCFC1):c.798-11_798-9del	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640354]	likely benign	X	153961657	153961659	Human		name
405212600	CV3127524	single nucleotide variant	NM_005334.3(HCFC1):c.21C>T (p.Pro7=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003823572]	likely benign	X	153970820	153970820	Human	1	name
401929863	CV2824347	single nucleotide variant	NM_005334.3(HCFC1):c.42T>G (p.Leu14=)	not provided [RCV003440024]	likely benign	X	153970799	153970799	Human		name
405051225	CV2872487	single nucleotide variant	NM_005334.3(HCFC1):c.69G>A (p.Val23=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522156]	likely benign	X	153970772	153970772	Human	1	name
404993170	CV2905042	single nucleotide variant	NM_005334.3(HCFC1):c.99C>T (p.Arg33=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003525305]	likely benign	X	153970742	153970742	Human	1	name
404988306	CV2925341	single nucleotide variant	NM_005334.3(HCFC1):c.8C>T (p.Ser3Leu)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524778]	likely benign	X	153970833	153970833	Human	1	name
405171756	CV3044894	single nucleotide variant	NM_005334.3(HCFC1):c.90A>C (p.Pro30=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638474]	likely benign	X	153970751	153970751	Human	1	name
405170665	CV3044895	single nucleotide variant	NM_005334.3(HCFC1):c.87G>A (p.Val29=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638475]	likely benign	X	153970754	153970754	Human	1	name
405170676	CV3044896	single nucleotide variant	NM_005334.3(HCFC1):c.84G>A (p.Pro28=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638476]	likely benign	X	153970757	153970757	Human	1	name
405216663	CV3143422	microsatellite	NM_005334.3(HCFC1):c.5261-9_5261-6del	Methylmalonic acidemia with homocystinuria, type cblX [RCV003846586]	likely benign	X	153951713	153951716	Human		name
127246371	CV1108150	single nucleotide variant	NM_005334.3(HCFC1):c.138G>C (p.Val46=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001435398]	likely benign	X	153970703	153970703	Human	1	name
156283551	CV1929604	single nucleotide variant	NM_005334.3(HCFC1):c.264G>A (p.Val88=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002628519]	benign	X	153964656	153964656	Human	1	name
401929861	CV2824346	single nucleotide variant	NM_005334.3(HCFC1):c.189C>T (p.Asn63=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523180]\|not provided [RCV003440023]	likely benign	X	153970652	153970652	Human	1	name
401914044	CV2830532	single nucleotide variant	NM_005334.3(HCFC1):c.17C>T (p.Ser6Leu)	not provided [RCV003442270]	uncertain significance	X	153970824	153970824	Human		name
405074880	CV2860036	single nucleotide variant	NM_005334.3(HCFC1):c.219C>T (p.Ala73=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524089]	likely benign	X	153964701	153964701	Human	1	name
405073409	CV2862481	microsatellite	NM_005334.3(HCFC1):c.2354-10_2354-9del	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523989]	likely benign	X	153957069	153957070	Human		name
405055777	CV2888623	single nucleotide variant	NM_005334.3(HCFC1):c.171C>T (p.Asp57=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522531]	likely benign	X	153970670	153970670	Human	1	name
404992380	CV2890574	single nucleotide variant	NM_005334.3(HCFC1):c.255T>C (p.Tyr85=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003525214]	likely benign	X	153964665	153964665	Human	1	name
405065171	CV2895642	single nucleotide variant	NM_005334.3(HCFC1):c.270C>T (p.Asp90=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523435]	benign	X	153964650	153964650	Human	1	name
405067899	CV2895666	single nucleotide variant	NM_005334.3(HCFC1):c.177G>A (p.Leu59=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523503]	likely benign	X	153970664	153970664	Human	1	name
405078895	CV2915528	single nucleotide variant	NM_005334.3(HCFC1):c.111C>A (p.Arg37=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524389]	likely benign	X	153970730	153970730	Human	1	name
405057163	CV2932214	duplication	NM_005334.3(HCFC1):c.4334-18_4334-8dup	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522662]	likely benign	X	153953777	153953778	Human	1	name
405175062	CV2937766	single nucleotide variant	NM_005334.3(HCFC1):c.273G>C (p.Gly91=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639019]	benign	X	153964647	153964647	Human	1	name
405178748	CV2939100	single nucleotide variant	NM_005334.3(HCFC1):c.153C>T (p.Gly51=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639402]	likely benign	X	153970688	153970688	Human	1	name
405183022	CV2982905	single nucleotide variant	NM_005334.3(HCFC1):c.297G>C (p.Gly99=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639897]	benign	X	153964623	153964623	Human	1	name
405184431	CV2999456	single nucleotide variant	NM_005334.3(HCFC1):c.129G>A (p.Glu43=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640055]	likely benign	X	153970712	153970712	Human	1	name
405177048	CV3073495	single nucleotide variant	NM_005334.3(HCFC1):c.258C>T (p.Gly86=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639223]	likely benign	X	153964662	153964662	Human	1	name
405194285	CV3128570	single nucleotide variant	NM_005334.3(HCFC1):c.228G>C (p.Gly76=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003821307]	likely benign	X	153964692	153964692	Human	1	name
405155491	CV3159397	single nucleotide variant	NM_005334.3(HCFC1):c.261C>T (p.Phe87=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003856662]	benign	X	153964659	153964659	Human	1	name
405270803	CV3212111	insertion	NM_005334.3(HCFC1):c.2353+2_2353+3insG	HCFC1-related disorder [RCV003949481]	likely benign	X	153957311	153957312	Human		name , trait , alternate_id
597852240	CV3758550	single nucleotide variant	NM_005334.3(HCFC1):c.156C>T (p.Asn52=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005088109]	likely benign	X	153970685	153970685	Human	1	name
597939852	CV3771985	single nucleotide variant	NM_005334.3(HCFC1):c.225G>A (p.Arg75=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005118240]	likely benign	X	153964695	153964695	Human	1	name
597915688	CV3814621	single nucleotide variant	NM_005334.3(HCFC1):c.120C>T (p.Ala40=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005154936]	likely benign	X	153970721	153970721	Human	1	name
15137635	CV743234	single nucleotide variant	NM_005334.3(HCFC1):c.237C>A (p.Pro79=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523034]\|not specified [RCV001818737]	likely benign	X	153964683	153964683	Human	1	name
126774906	CV1035400	single nucleotide variant	NM_005334.3(HCFC1):c.477C>T (p.Ser159=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001347763]	likely benign\|uncertain significance	X	153964150	153964150	Human	1	name
152043342	CV1581601	single nucleotide variant	NM_005334.3(HCFC1):c.624C>T (p.Tyr208=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002071303]	likely benign	X	153963313	153963313	Human	1	name
152095313	CV1603940	single nucleotide variant	NM_005334.3(HCFC1):c.684G>A (p.Arg228=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002213279]	likely benign	X	153963253	153963253	Human	1	name
152062926	CV1663839	single nucleotide variant	NM_005334.3(HCFC1):c.753G>A (p.Ala251=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002073897]	likely benign	X	153962266	153962266	Human	1	name
156028662	CV1914154	single nucleotide variant	NM_005334.3(HCFC1):c.465G>A (p.Leu155=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002619747]	likely benign	X	153964162	153964162	Human	1	name
156416265	CV1976498	single nucleotide variant	NM_005334.3(HCFC1):c.588A>G (p.Leu196=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002589610]	likely benign	X	153963349	153963349	Human	1	name
10404563	CV208944	single nucleotide variant	NM_005334.3(HCFC1):c.984C>T (p.Val328=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638642]\|not specified [RCV000193208]	likely benign\|uncertain significance	X	153960335	153960335	Human	1	name
401929859	CV2824345	single nucleotide variant	NM_005334.3(HCFC1):c.627C>T (p.Thr209=)	HCFC1-related disorder [RCV003929195]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV003638961]\|not provided [RCV003440022]	likely benign	X	153963310	153963310	Human	1	name , alternate_id
404982085	CV2850236	single nucleotide variant	NM_005334.3(HCFC1):c.939A>G (p.Thr313=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003486110]	conflicting interpretations of pathogenicity	X	153960380	153960380	Human	1	name
405062968	CV2853997	single nucleotide variant	NM_005334.3(HCFC1):c.80G>A (p.Gly27Asp)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523252]	uncertain significance	X	153970761	153970761	Human	1	name
405078055	CV2868445	single nucleotide variant	NM_005334.3(HCFC1):c.426C>T (p.Phe142=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524316]	likely benign	X	153964201	153964201	Human	1	name
405051891	CV2872916	single nucleotide variant	NM_005334.3(HCFC1):c.351G>A (p.Arg117=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522210]	benign	X	153964276	153964276	Human	1	name
405052450	CV2880491	single nucleotide variant	NM_005334.3(HCFC1):c.357G>A (p.Glu119=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522262]	likely benign	X	153964270	153964270	Human	1	name
404991620	CV2890224	single nucleotide variant	NM_005334.3(HCFC1):c.348C>T (p.Ser116=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003525122]	benign	X	153964279	153964279	Human	1	name
404992406	CV2890593	single nucleotide variant	NM_005334.3(HCFC1):c.526C>T (p.Leu176=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003525217]\|not specified [RCV004783077]	likely benign	X	153963411	153963411	Human	1	name
404992681	CV2898090	single nucleotide variant	NM_005334.3(HCFC1):c.381G>A (p.Thr127=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003525249]	likely benign	X	153964246	153964246	Human	1	name
405066959	CV2900063	single nucleotide variant	NM_005334.3(HCFC1):c.615C>T (p.Ala205=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523567]	likely benign	X	153963322	153963322	Human	1	name
405079729	CV2909054	single nucleotide variant	NM_005334.3(HCFC1):c.435G>C (p.Val145=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524467]	likely benign	X	153964192	153964192	Human	1	name
405057598	CV2926632	single nucleotide variant	NM_005334.3(HCFC1):c.993C>T (p.Asn331=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522700]	benign	X	153960326	153960326	Human	1	name
405060050	CV2933751	single nucleotide variant	NM_005334.3(HCFC1):c.714C>T (p.Asp238=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522890]	likely benign	X	153962305	153962305	Human	1	name
405179118	CV2949641	single nucleotide variant	NM_005334.3(HCFC1):c.453G>C (p.Leu151=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639439]	likely benign	X	153964174	153964174	Human	1	name
405179845	CV2950941	single nucleotide variant	NM_005334.3(HCFC1):c.885G>A (p.Thr295=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639513]	likely benign	X	153961561	153961561	Human	1	name
405179797	CV2958065	single nucleotide variant	NM_005334.3(HCFC1):c.948C>T (p.Asp316=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639508]	likely benign	X	153960371	153960371	Human	1	name
405179458	CV2960543	microsatellite	NM_005334.3(HCFC1):c.5261-12_5261-10del	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639473]	likely benign	X	153951717	153951719	Human		name
405181356	CV2975182	single nucleotide variant	NM_005334.3(HCFC1):c.636C>T (p.Asp212=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639684]	likely benign	X	153963301	153963301	Human	1	name
405182841	CV2978939	single nucleotide variant	NM_005334.3(HCFC1):c.723G>A (p.Thr241=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639873]	likely benign	X	153962296	153962296	Human	1	name
405183481	CV2979788	deletion	NM_005334.3(HCFC1):c.5704-20_5704-18del	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639931]	likely benign	X	153950561	153950563	Human	1	name
405182964	CV2986180	single nucleotide variant	NM_005334.3(HCFC1):c.954C>A (p.Ile318=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639889]	likely benign	X	153960365	153960365	Human	1	name
405182388	CV2987761	single nucleotide variant	NM_005334.3(HCFC1):c.648C>T (p.Ser216=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639814]	likely benign	X	153963289	153963289	Human	1	name
405185215	CV2997447	single nucleotide variant	NM_005334.3(HCFC1):c.942G>A (p.Leu314=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640143]	likely benign	X	153960377	153960377	Human	1	name
405185364	CV3007886	single nucleotide variant	NM_005334.3(HCFC1):c.417G>A (p.Gly139=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640159]	likely benign	X	153964210	153964210	Human	1	name
405186051	CV3015869	single nucleotide variant	NM_005334.3(HCFC1):c.463C>T (p.Leu155=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640237]	likely benign	X	153964164	153964164	Human	1	name
405167126	CV3026169	single nucleotide variant	NM_005334.3(HCFC1):c.414C>G (p.Leu138=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638162]	likely benign	X	153964213	153964213	Human	1	name
405169323	CV3028133	single nucleotide variant	NM_005334.3(HCFC1):c.432T>C (p.Leu144=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638241]	likely benign	X	153964195	153964195	Human	1	name
405167113	CV3029760	deletion	NM_005334.3(HCFC1):c.2497-17_2497-16del	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638161]	likely benign	X	153956779	153956780	Human	1	name
405169133	CV3042528	single nucleotide variant	NM_005334.3(HCFC1):c.585C>G (p.Val195=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638338]	benign	X	153963352	153963352	Human	1	name
405169625	CV3046428	single nucleotide variant	NM_005334.3(HCFC1):c.390C>T (p.Asn130=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638381]	benign	X	153964237	153964237	Human	1	name
405170064	CV3047117	single nucleotide variant	NM_005334.3(HCFC1):c.921G>A (p.Glu307=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638420]	benign	X	153960398	153960398	Human	1	name
405171318	CV3052393	single nucleotide variant	NM_005334.3(HCFC1):c.666C>T (p.Gly222=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638535]	likely benign	X	153963271	153963271	Human	1	name
405169416	CV3052925	single nucleotide variant	NM_005334.3(HCFC1):c.663C>T (p.Tyr221=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638362]	likely benign	X	153963274	153963274	Human	1	name
405169427	CV3052933	single nucleotide variant	NM_005334.3(HCFC1):c.508C>T (p.Leu170=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638363]	benign	X	153963429	153963429	Human	1	name
405176436	CV3059469	single nucleotide variant	NM_005334.3(HCFC1):c.744C>T (p.Ser248=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639159]	likely benign	X	153962275	153962275	Human	1	name
405176608	CV3062029	single nucleotide variant	NM_005334.3(HCFC1):c.777G>A (p.Ser259=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639123]	benign	X	153962242	153962242	Human	1	name
405172114	CV3063709	single nucleotide variant	NM_005334.3(HCFC1):c.411A>G (p.Arg137=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638582]	likely benign	X	153964216	153964216	Human	1	name
405175774	CV3064984	single nucleotide variant	NM_005334.3(HCFC1):c.507C>T (p.Tyr169=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639090]	benign	X	153963430	153963430	Human	1	name
405172058	CV3067439	single nucleotide variant	NM_005334.3(HCFC1):c.609T>C (p.His203=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638577]	likely benign	X	153963328	153963328	Human	1	name
405177697	CV3071700	single nucleotide variant	NM_005334.3(HCFC1):c.741C>T (p.Leu247=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639290]	likely benign	X	153962278	153962278	Human	1	name
405178066	CV3080636	single nucleotide variant	NM_005334.3(HCFC1):c.345G>A (p.Ala115=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639331]	likely benign	X	153964282	153964282	Human	1	name
405190847	CV3118048	single nucleotide variant	NM_005334.3(HCFC1):c.429C>T (p.Ser143=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003820958]	benign	X	153964198	153964198	Human	1	name
405186967	CV3120539	single nucleotide variant	NM_005334.3(HCFC1):c.750G>A (p.Val250=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003820621]	benign	X	153962269	153962269	Human	1	name
405121978	CV3126209	single nucleotide variant	NM_005334.3(HCFC1):c.702C>T (p.Thr234=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003814961]	likely benign	X	153963235	153963235	Human	1	name
405113828	CV3133714	single nucleotide variant	NM_005334.3(HCFC1):c.735C>G (p.Pro245=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003836507]	likely benign	X	153962284	153962284	Human	1	name
405205670	CV3144265	single nucleotide variant	NM_005334.3(HCFC1):c.414C>T (p.Leu138=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003845055]	likely benign	X	153964213	153964213	Human	1	name
405076418	CV3156196	single nucleotide variant	NM_005334.3(HCFC1):c.703C>T (p.Leu235=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003851254]	benign	X	153963234	153963234	Human	1	name
405162291	CV3160082	single nucleotide variant	NM_005334.3(HCFC1):c.543C>T (p.Gly181=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003857153]	likely benign	X	153963394	153963394	Human	1	name
405185316	CV3160126	single nucleotide variant	NM_005334.3(HCFC1):c.423C>T (p.Ser141=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003859181]	likely benign	X	153964204	153964204	Human	1	name
405090585	CV3167871	single nucleotide variant	NM_005334.3(HCFC1):c.525C>T (p.Ile175=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003852261]	benign	X	153963412	153963412	Human	1	name
402480485	CV3170693	single nucleotide variant	NM_005334.3(HCFC1):c.402G>A (p.Pro134=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003875895]	likely benign	X	153964225	153964225	Human	1	name
402470154	CV3171077	single nucleotide variant	NM_005334.3(HCFC1):c.927C>T (p.Ile309=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003874040]	likely benign	X	153960392	153960392	Human	1	name
402468833	CV3174607	single nucleotide variant	NM_005334.3(HCFC1):c.978C>T (p.Cys326=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003873717]	benign	X	153960341	153960341	Human	1	name
405252300	CV3177894	single nucleotide variant	NM_005334.3(HCFC1):c.513T>C (p.Asn171=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003870674]	likely benign	X	153963424	153963424	Human	1	name
402512969	CV3178502	single nucleotide variant	NM_005334.3(HCFC1):c.789C>T (p.Ile263=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003879119]	likely benign	X	153962230	153962230	Human	1	name
402489577	CV3182313	single nucleotide variant	NM_005334.3(HCFC1):c.306G>A (p.Glu102=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003876799]	likely benign	X	153964614	153964614	Human	1	name
407514290	CV3440141	single nucleotide variant	NM_005334.3(HCFC1):c.32C>T (p.Pro11Leu)	Inborn genetic diseases [RCV004627536]	uncertain significance	X	153970809	153970809	Human	1	name
597872199	CV3805280	single nucleotide variant	NM_005334.3(HCFC1):c.867G>A (p.Glu289=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005148558]	likely benign	X	153961579	153961579	Human	1	name
597948421	CV3818312	single nucleotide variant	NM_005334.3(HCFC1):c.858C>T (p.His286=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005160573]	likely benign	X	153961588	153961588	Human	1	name
597886865	CV3842410	single nucleotide variant	NM_005334.3(HCFC1):c.840C>T (p.Asp280=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005179045]	benign	X	153961606	153961606	Human	1	name
616936478	CV4009132	single nucleotide variant	NM_005334.3(HCFC1):c.97C>T (p.Arg33Cys)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005402313]	likely pathogenic	X	153970744	153970744	Human	1	name
13215528	CV430711	single nucleotide variant	NM_005334.3(HCFC1):c.717C>G (p.Thr239=)	HCFC1-related disorder [RCV003902776]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV000974787]\|not specified [RCV000502520]	benign\|likely benign	X	153962302	153962302	Human	1	name , alternate_id
15123915	CV743233	single nucleotide variant	NM_005334.3(HCFC1):c.648C>G (p.Ser216=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523033]	likely benign	X	153963289	153963289	Human	1	name
15108384	CV758373	single nucleotide variant	NM_005334.3(HCFC1):c.333C>T (p.Tyr111=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV000916133]	likely benign	X	153964587	153964587	Human	1	name
15184889	CV773885	single nucleotide variant	NM_005334.3(HCFC1):c.579C>T (p.Tyr193=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV000930911]	likely benign	X	153963358	153963358	Human	1	name
8642191	CV101175	single nucleotide variant	NM_005334.3(HCFC1):c.1200T>C (p.Tyr400=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638617]\|not provided [RCV000081289]	benign\|uncertain significance	X	153960046	153960046	Human	1	name
8642192	CV101176	single nucleotide variant	NM_005334.3(HCFC1):c.2841A>G (p.Pro947=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001513392]\|not provided [RCV004713241]\|not specified [RCV000081290]	benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	X	153956206	153956206	Human	1	name
127236760	CV1086403	single nucleotide variant	NM_005334.3(HCFC1):c.2628C>T (p.Gly876=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001396960]	likely benign	X	153956632	153956632	Human	1	name
127253192	CV1086404	single nucleotide variant	NM_005334.3(HCFC1):c.2196C>T (p.Pro732=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001418228]	likely benign	X	153957471	153957471	Human	1	name
127264147	CV1108147	single nucleotide variant	NM_005334.3(HCFC1):c.2475C>T (p.His825=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001439555]	likely benign	X	153956939	153956939	Human	1	name
127273652	CV1108148	single nucleotide variant	NM_005334.3(HCFC1):c.1113A>G (p.Gln371=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001442631]	likely benign	X	153960133	153960133	Human	1	name
127284122	CV1108149	single nucleotide variant	NM_005334.3(HCFC1):c.1029C>T (p.Tyr343=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001448989]	likely benign	X	153960290	153960290	Human	1	name
127314752	CV1150555	single nucleotide variant	NM_005334.3(HCFC1):c.2859C>T (p.Pro953=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001502555]	likely benign	X	153955540	153955540	Human	1	name
127300739	CV1159475	single nucleotide variant	NM_005334.3(HCFC1):c.2685C>T (p.Ala895=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001514325]\|not provided [RCV003438855]	benign\|likely benign	X	153956362	153956362	Human	1	name
151353850	CV1327402	single nucleotide variant	NM_005334.3(HCFC1):c.1716G>A (p.Ala572=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638818]\|not specified [RCV001817346]	benign\|likely benign	X	153958656	153958656	Human	1	name
8659709	CV134664	single nucleotide variant	NM_005334.3(HCFC1):c.2283C>G (p.Thr761=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001514168]\|not provided [RCV004713284]\|not specified [RCV000117213]	benign\|likely benign\|conflicting interpretations of pathogenicity	X	153957384	153957384	Human	1	name
8659710	CV134665	single nucleotide variant	NM_005334.3(HCFC1):c.2886G>A (p.Leu962=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001513391]\|not provided [RCV004713285]\|not specified [RCV000117214]	benign\|likely benign\|conflicting interpretations of pathogenicity	X	153955513	153955513	Human	1	name
152051999	CV1538900	single nucleotide variant	NM_005334.3(HCFC1):c.1428C>T (p.Thr476=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002189528]	likely benign	X	153959818	153959818	Human	1	name
152026404	CV1594502	single nucleotide variant	NM_005334.3(HCFC1):c.2154G>A (p.Ala718=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002104545]	likely benign	X	153957513	153957513	Human	1	name
152137933	CV1603826	single nucleotide variant	NM_005334.3(HCFC1):c.2955G>A (p.Pro985=)	HCFC1-related disorder [RCV003978578]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV002218976]	likely benign	X	153955444	153955444	Human	1	name , alternate_id
152168986	CV1614026	single nucleotide variant	NM_005334.3(HCFC1):c.1713A>G (p.Pro571=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002161297]	likely benign	X	153958659	153958659	Human	1	name
152043077	CV1619773	single nucleotide variant	NM_005334.3(HCFC1):c.1794G>C (p.Ser598=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002188514]	likely benign	X	153958578	153958578	Human	1	name
152066005	CV1620113	single nucleotide variant	NM_005334.3(HCFC1):c.1317G>A (p.Pro439=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002209352]	likely benign	X	153959929	153959929	Human	1	name
156356130	CV1876473	single nucleotide variant	NM_005334.3(HCFC1):c.2577C>T (p.Pro859=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003065252]\|not provided [RCV003435862]	benign\|likely benign	X	153956683	153956683	Human	1	name
156413472	CV1887952	single nucleotide variant	NM_005334.3(HCFC1):c.1215G>A (p.Thr405=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003073304]	likely benign	X	153960031	153960031	Human	1	name
156340960	CV1898790	single nucleotide variant	NM_005334.3(HCFC1):c.1881G>A (p.Thr627=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003090359]	benign	X	153958172	153958172	Human	1	name
10049977	CV191229	single nucleotide variant	NM_005334.3(HCFC1):c.2109G>A (p.Thr703=)	HCFC1-related disorder [RCV004755788]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV000638559]\|not provided [RCV004703442]\|not specified [RCV000174341]	benign\|likely benign\|conflicting interpretations of pathogenicity	X	153957806	153957806	Human	1	name , alternate_id
156358100	CV1914093	single nucleotide variant	NM_005334.3(HCFC1):c.2736C>T (p.Thr912=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002632482]	likely benign	X	153956311	153956311	Human	1	name
156405978	CV1953944	single nucleotide variant	NM_005334.3(HCFC1):c.2586C>T (p.Val862=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002585764]	likely benign	X	153956674	153956674	Human	1	name
156053011	CV1974443	single nucleotide variant	NM_005334.3(HCFC1):c.1659C>T (p.Ala553=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002590721]	likely benign	X	153958713	153958713	Human	1	name
156001000	CV2074619	single nucleotide variant	NM_005334.3(HCFC1):c.2667C>A (p.Thr889=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002843404]	likely benign	X	153956380	153956380	Human	1	name
155951832	CV2076437	single nucleotide variant	NM_005334.3(HCFC1):c.2544T>G (p.Thr848=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002862389]	likely benign	X	153956716	153956716	Human	1	name
10404645	CV208941	single nucleotide variant	NM_005334.3(HCFC1):c.2691G>A (p.Ala897=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001400453]\|not specified [RCV000195023]	likely benign\|uncertain significance	X	153956356	153956356	Human	1	name
10404586	CV208942	single nucleotide variant	NM_005334.3(HCFC1):c.2463T>A (p.Ile821=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522944]\|not specified [RCV000193817]	benign\|uncertain significance	X	153956951	153956951	Human	1	name
156238978	CV2109037	single nucleotide variant	NM_005334.3(HCFC1):c.1302A>G (p.Ala434=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002933130]	benign	X	153959944	153959944	Human	1	name
155996864	CV2122637	single nucleotide variant	NM_005334.3(HCFC1):c.1023C>T (p.Asp341=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002974994]\|not specified [RCV003988041]	likely benign	X	153960296	153960296	Human	1	name
156236722	CV2158181	single nucleotide variant	NM_005334.3(HCFC1):c.2796G>A (p.Ser932=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003025852]	likely benign	X	153956251	153956251	Human	1	name
156056759	CV2192764	single nucleotide variant	NM_005334.3(HCFC1):c.202C>G (p.Gln68Glu)	Disorders of Intracellular Cobalamin Metabolism [RCV003037107]	not provided	X	153964718	153964718	Human		name
243049986	CV2417290	single nucleotide variant	NM_005334.3(HCFC1):c.109C>T (p.Arg37Cys)	not provided [RCV003152162]	uncertain significance	X	153970732	153970732	Human		name
401929848	CV2824340	single nucleotide variant	NM_005334.3(HCFC1):c.2892G>A (p.Thr964=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523178]\|not provided [RCV003440017]	benign\|likely benign	X	153955507	153955507	Human	1	name
401929850	CV2824341	single nucleotide variant	NM_005334.3(HCFC1):c.1956A>T (p.Thr652=)	not provided [RCV003440018]	likely benign	X	153958097	153958097	Human		name
401929855	CV2824343	single nucleotide variant	NM_005334.3(HCFC1):c.1545C>T (p.Thr515=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523179]\|not provided [RCV003440020]	likely benign	X	153959391	153959391	Human	1	name
401929857	CV2824344	single nucleotide variant	NM_005334.3(HCFC1):c.1131C>G (p.Thr377=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003778464]\|not provided [RCV003440021]	benign\|likely benign	X	153960115	153960115	Human	1	name
405063715	CV2853830	single nucleotide variant	NM_005334.3(HCFC1):c.2493C>A (p.Thr831=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523245]	likely benign	X	153956921	153956921	Human	1	name
405074263	CV2856366	single nucleotide variant	NM_005334.3(HCFC1):c.1248G>A (p.Pro416=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524045]	likely benign	X	153959998	153959998	Human	1	name
405063028	CV2864144	single nucleotide variant	NM_005334.3(HCFC1):c.2715C>T (p.Ser905=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523258]	likely benign	X	153956332	153956332	Human	1	name
405063619	CV2864439	single nucleotide variant	NM_005334.3(HCFC1):c.2814G>A (p.Leu938=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523310]	likely benign	X	153956233	153956233	Human	1	name
405074383	CV2866476	single nucleotide variant	NM_005334.3(HCFC1):c.2970C>T (p.Pro990=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524055]	likely benign	X	153955429	153955429	Human	1	name
405075845	CV2866886	single nucleotide variant	NM_005334.3(HCFC1):c.2745C>T (p.Thr915=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524152]	likely benign	X	153956302	153956302	Human	1	name
405052060	CV2869611	single nucleotide variant	NM_005334.3(HCFC1):c.1455T>C (p.Ala485=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522227]	benign	X	153959481	153959481	Human	1	name
405076649	CV2871028	single nucleotide variant	NM_005334.3(HCFC1):c.1230C>G (p.Thr410=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524204]	likely benign	X	153960016	153960016	Human	1	name
405077724	CV2871663	single nucleotide variant	NM_005334.3(HCFC1):c.2170C>T (p.Leu724=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524290]	likely benign	X	153957497	153957497	Human	1	name
405077457	CV2878630	single nucleotide variant	NM_005334.3(HCFC1):c.2445C>A (p.Ile815=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524266]	likely benign	X	153956969	153956969	Human	1	name
405078198	CV2879164	single nucleotide variant	NM_005334.3(HCFC1):c.2148G>A (p.Leu716=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524331]	likely benign	X	153957519	153957519	Human	1	name
405053268	CV2880798	single nucleotide variant	NM_005334.3(HCFC1):c.2916G>A (p.Gln972=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522330]	likely benign	X	153955483	153955483	Human	1	name
405053437	CV2881019	single nucleotide variant	NM_005334.3(HCFC1):c.2820G>A (p.Ala940=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522344]	benign	X	153956227	153956227	Human	1	name
405055120	CV2881546	single nucleotide variant	NM_005334.3(HCFC1):c.1869C>T (p.Ser623=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522481]	benign	X	153958184	153958184	Human	1	name
405056425	CV2882320	single nucleotide variant	NM_005334.3(HCFC1):c.1650C>T (p.Ala550=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522579]	benign	X	153958722	153958722	Human	1	name
404991849	CV2887077	single nucleotide variant	NM_005334.3(HCFC1):c.2295G>A (p.Thr765=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003525147]	benign	X	153957372	153957372	Human	1	name
405054432	CV2887628	single nucleotide variant	NM_005334.3(HCFC1):c.2466C>G (p.Ala822=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522371]	benign	X	153956948	153956948	Human	1	name
405055705	CV2888427	single nucleotide variant	NM_005334.3(HCFC1):c.1812C>T (p.Asn604=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522526]	likely benign	X	153958241	153958241	Human	1	name
404990612	CV2893178	single nucleotide variant	NM_005334.3(HCFC1):c.2004C>T (p.Ile668=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003525019]	likely benign	X	153958049	153958049	Human	1	name
405069473	CV2897132	single nucleotide variant	NM_005334.3(HCFC1):c.2556G>A (p.Gly852=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523717]	likely benign	X	153956704	153956704	Human	1	name
405070508	CV2908094	single nucleotide variant	NM_005334.3(HCFC1):c.1878C>T (p.Asn626=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523787]	likely benign	X	153958175	153958175	Human	1	name
404987339	CV2921408	single nucleotide variant	NM_005334.3(HCFC1):c.1767C>T (p.Leu589=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524676]	likely benign	X	153958605	153958605	Human	1	name
404987940	CV2921549	single nucleotide variant	NM_005334.3(HCFC1):c.2944C>T (p.Leu982=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524738]	likely benign	X	153955455	153955455	Human	1	name
405058583	CV2926874	single nucleotide variant	NM_005334.3(HCFC1):c.2763C>T (p.Ser921=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522757]	likely benign	X	153956284	153956284	Human	1	name
405058347	CV2929416	single nucleotide variant	NM_005334.3(HCFC1):c.1659C>A (p.Ala553=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522739]	likely benign	X	153958713	153958713	Human	1	name
404988424	CV2930664	single nucleotide variant	NM_005334.3(HCFC1):c.1641C>T (p.Ala547=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524790]	likely benign	X	153958731	153958731	Human	1	name
405056569	CV2931814	single nucleotide variant	NM_005334.3(HCFC1):c.2256C>A (p.Gly752=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522614]	likely benign	X	153957411	153957411	Human	1	name
405059762	CV2933147	single nucleotide variant	NM_005334.3(HCFC1):c.1968G>A (p.Gly656=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522842]	likely benign	X	153958085	153958085	Human	1	name
405174944	CV2937051	single nucleotide variant	NM_005334.3(HCFC1):c.1377C>T (p.Thr459=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639008]	benign	X	153959869	153959869	Human	1	name
405178899	CV2942543	single nucleotide variant	NM_005334.3(HCFC1):c.2178C>T (p.Thr726=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639417]	likely benign	X	153957489	153957489	Human	1	name
405175353	CV2944811	single nucleotide variant	NM_005334.3(HCFC1):c.2565C>G (p.Arg855=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639048]	likely benign	X	153956695	153956695	Human	1	name
405179996	CV2949470	single nucleotide variant	NM_005334.3(HCFC1):c.2688G>A (p.Gly896=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639429]	benign	X	153956359	153956359	Human	1	name
405179608	CV2950444	single nucleotide variant	NM_005334.3(HCFC1):c.1452T>C (p.Pro484=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639488]	likely benign	X	153959484	153959484	Human	1	name
405179914	CV2958394	single nucleotide variant	NM_005334.3(HCFC1):c.1203C>T (p.Asp401=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639520]	likely benign	X	153960043	153960043	Human	1	name
405180263	CV2959283	single nucleotide variant	NM_005334.3(HCFC1):c.1299C>T (p.Ala433=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639556]	likely benign	X	153959947	153959947	Human	1	name
405180029	CV2961869	single nucleotide variant	NM_005334.3(HCFC1):c.2265C>T (p.Ser755=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639531]	likely benign	X	153957402	153957402	Human	1	name
405180596	CV2963307	single nucleotide variant	NM_005334.3(HCFC1):c.2877G>A (p.Gln959=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639595]	benign	X	153955522	153955522	Human	1	name
405181889	CV2963832	single nucleotide variant	NM_005334.3(HCFC1):c.1038C>G (p.Ala346=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639630]	likely benign	X	153960281	153960281	Human	1	name
405180691	CV2967115	single nucleotide variant	NM_005334.3(HCFC1):c.1137C>T (p.Ser379=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639605]	likely benign	X	153960109	153960109	Human	1	name
405180607	CV2970337	single nucleotide variant	NM_005334.3(HCFC1):c.2325G>C (p.Ser775=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639596]	likely benign	X	153957342	153957342	Human	1	name
405182438	CV2984958	single nucleotide variant	NM_005334.3(HCFC1):c.1407C>A (p.Gly469=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639821]	likely benign	X	153959839	153959839	Human	1	name
405183170	CV2989873	single nucleotide variant	NM_005334.3(HCFC1):c.2127C>T (p.Ile709=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639913]	likely benign	X	153957788	153957788	Human	1	name
405185015	CV2993421	single nucleotide variant	NM_005334.3(HCFC1):c.2469T>G (p.Thr823=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640119]	likely benign	X	153956945	153956945	Human	1	name
405185235	CV2993875	single nucleotide variant	NM_005334.3(HCFC1):c.1947G>T (p.Val649=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640145]	likely benign	X	153958106	153958106	Human	1	name
405184503	CV2995863	single nucleotide variant	NM_005334.3(HCFC1):c.1275C>T (p.Pro425=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640063]	likely benign	X	153959971	153959971	Human	1	name
405184521	CV2995885	single nucleotide variant	NM_005334.3(HCFC1):c.2721C>T (p.Ala907=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640065]	likely benign	X	153956326	153956326	Human	1	name
405184207	CV3002047	single nucleotide variant	NM_005334.3(HCFC1):c.2898T>C (p.Pro966=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640026]	likely benign	X	153955501	153955501	Human	1	name
405185554	CV3008440	single nucleotide variant	NM_005334.3(HCFC1):c.2817A>C (p.Thr939=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640180]	likely benign	X	153956230	153956230	Human	1	name
405186439	CV3010399	single nucleotide variant	NM_005334.3(HCFC1):c.2688G>C (p.Gly896=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640282]	likely benign	X	153956359	153956359	Human	1	name
405186748	CV3014435	single nucleotide variant	NM_005334.3(HCFC1):c.1116G>A (p.Leu372=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640319]	likely benign	X	153960130	153960130	Human	1	name
405185631	CV3015015	single nucleotide variant	NM_005334.3(HCFC1):c.2607C>A (p.Val869=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640189]	likely benign	X	153956653	153956653	Human	1	name
405186225	CV3016543	single nucleotide variant	NM_005334.3(HCFC1):c.1017G>A (p.Gly339=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640258]	likely benign	X	153960302	153960302	Human	1	name
405186542	CV3017278	single nucleotide variant	NM_005334.3(HCFC1):c.2649A>G (p.Leu883=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640293]	likely benign	X	153956398	153956398	Human	1	name
405166995	CV3022868	single nucleotide variant	NM_005334.3(HCFC1):c.2565C>A (p.Arg855=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638151]	likely benign	X	153956695	153956695	Human	1	name
405168277	CV3032236	single nucleotide variant	NM_005334.3(HCFC1):c.2307C>A (p.Ile769=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638260]	likely benign	X	153957360	153957360	Human	1	name
405168589	CV3032987	single nucleotide variant	NM_005334.3(HCFC1):c.1359C>T (p.Pro453=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638289]	likely benign	X	153959887	153959887	Human	1	name
405168386	CV3035326	single nucleotide variant	NM_005334.3(HCFC1):c.1623A>G (p.Pro541=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638270]	likely benign	X	153958749	153958749	Human	1	name
405170406	CV3036757	single nucleotide variant	NM_005334.3(HCFC1):c.2325G>A (p.Ser775=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638329]	likely benign	X	153957342	153957342	Human	1	name
405168333	CV3040841	single nucleotide variant	NM_005334.3(HCFC1):c.2700C>T (p.His900=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638265]	likely benign	X	153956347	153956347	Human	1	name
405168908	CV3042136	single nucleotide variant	NM_005334.3(HCFC1):c.1362A>G (p.Ala454=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638318]	likely benign	X	153959884	153959884	Human	1	name
405171147	CV3045757	single nucleotide variant	NM_005334.3(HCFC1):c.1122C>A (p.Arg374=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638519]	likely benign	X	153960124	153960124	Human	1	name
405170920	CV3048458	single nucleotide variant	NM_005334.3(HCFC1):c.1413C>T (p.Ser471=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638498]	benign	X	153959833	153959833	Human	1	name
405169927	CV3053835	single nucleotide variant	NM_005334.3(HCFC1):c.2103G>A (p.Ala701=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638408]	benign	X	153957812	153957812	Human	1	name
405171047	CV3055532	single nucleotide variant	NM_005334.3(HCFC1):c.1356C>T (p.Ala452=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638509]	benign	X	153959890	153959890	Human	1	name
405176158	CV3058763	single nucleotide variant	NM_005334.3(HCFC1):c.2991C>T (p.Ala997=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639105]	benign	X	153955408	153955408	Human	1	name
405176476	CV3059552	single nucleotide variant	NM_005334.3(HCFC1):c.2724G>A (p.Thr908=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639163]	likely benign	X	153956323	153956323	Human	1	name
405172243	CV3060591	single nucleotide variant	NM_005334.3(HCFC1):c.1932C>T (p.Ala644=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638593]	benign	X	153958121	153958121	Human	1	name
405176059	CV3061675	single nucleotide variant	NM_005334.3(HCFC1):c.2799C>T (p.Ala933=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639096]	benign	X	153956248	153956248	Human	1	name
405176320	CV3062123	single nucleotide variant	NM_005334.3(HCFC1):c.1149C>T (p.Ser383=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639126]	likely benign	X	153960097	153960097	Human	1	name
405172040	CV3067369	single nucleotide variant	NM_005334.3(HCFC1):c.1527T>C (p.Ala509=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638575]	likely benign	X	153959409	153959409	Human	1	name
405174134	CV3067844	single nucleotide variant	NM_005334.3(HCFC1):c.1563C>T (p.Ala521=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638606]	benign	X	153959373	153959373	Human	1	name
405178474	CV3071365	single nucleotide variant	NM_005334.3(HCFC1):c.1645C>T (p.Leu549=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639258]	benign	X	153958727	153958727	Human	1	name
405177057	CV3073500	single nucleotide variant	NM_005334.3(HCFC1):c.2064G>A (p.Gln688=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639224]	benign	X	153957851	153957851	Human	1	name
405177946	CV3074857	single nucleotide variant	NM_005334.3(HCFC1):c.2217G>A (p.Thr739=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639319]	likely benign	X	153957450	153957450	Human	1	name
405178156	CV3075064	single nucleotide variant	NM_005334.3(HCFC1):c.1683T>C (p.Pro561=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639339]	likely benign	X	153958689	153958689	Human	1	name
405178198	CV3075306	single nucleotide variant	NM_005334.3(HCFC1):c.1965C>T (p.Gly655=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639343]	likely benign	X	153958088	153958088	Human	1	name
405177567	CV3076578	single nucleotide variant	NM_005334.3(HCFC1):c.2517G>A (p.Pro839=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639277]	benign	X	153956743	153956743	Human	1	name
405179551	CV3078031	single nucleotide variant	NM_005334.3(HCFC1):c.1170C>T (p.Ala390=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639371]	likely benign	X	153960076	153960076	Human	1	name
405177457	CV3079459	single nucleotide variant	NM_005334.3(HCFC1):c.2073A>G (p.Pro691=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639266]	benign	X	153957842	153957842	Human	1	name
405178302	CV3080721	single nucleotide variant	NM_005334.3(HCFC1):c.2391C>T (p.Thr797=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639353]	likely benign	X	153957023	153957023	Human	1	name
405133135	CV3115279	single nucleotide variant	NM_005334.3(HCFC1):c.1347C>G (p.Pro449=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003816124]	likely benign	X	153959899	153959899	Human	1	name
405002554	CV3120653	single nucleotide variant	NM_005334.3(HCFC1):c.2673C>T (p.Ser891=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003828255]	likely benign	X	153956374	153956374	Human	1	name
405010691	CV3127938	single nucleotide variant	NM_005334.3(HCFC1):c.2583C>T (p.Thr861=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003828818]	benign	X	153956677	153956677	Human	1	name
405136684	CV3130646	single nucleotide variant	NM_005334.3(HCFC1):c.1887C>T (p.Thr629=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003838879]	likely benign	X	153958166	153958166	Human	1	name
404992148	CV3132346	single nucleotide variant	NM_005334.3(HCFC1):c.1788C>T (p.Ala596=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003827284]	likely benign	X	153958584	153958584	Human	1	name
404994072	CV3132487	single nucleotide variant	NM_005334.3(HCFC1):c.2811G>A (p.Thr937=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003827426]	likely benign	X	153956236	153956236	Human	1	name
404994922	CV3132543	single nucleotide variant	NM_005334.3(HCFC1):c.2859C>G (p.Pro953=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003827482]	likely benign	X	153955540	153955540	Human	1	name
405134092	CV3133880	single nucleotide variant	NM_005334.3(HCFC1):c.1338G>A (p.Thr446=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003838659]	benign	X	153959908	153959908	Human	1	name
405043829	CV3137383	single nucleotide variant	NM_005334.3(HCFC1):c.2952C>T (p.Ser984=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003831612]	likely benign	X	153955447	153955447	Human	1	name
405048285	CV3137885	single nucleotide variant	NM_005334.3(HCFC1):c.2055G>A (p.Ser685=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003831923]	benign	X	153957860	153957860	Human	1	name
405047971	CV3150743	single nucleotide variant	NM_005334.3(HCFC1):c.2976C>T (p.Ala992=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003849346]	benign	X	153955423	153955423	Human	1	name
405169888	CV3151581	single nucleotide variant	NM_005334.3(HCFC1):c.2337C>T (p.Thr779=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003857732]	likely benign	X	153957330	153957330	Human	1	name
405218985	CV3154196	single nucleotide variant	NM_005334.3(HCFC1):c.1668C>T (p.Thr556=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003846888]	benign	X	153958704	153958704	Human	1	name
405075413	CV3156139	single nucleotide variant	NM_005334.3(HCFC1):c.1860G>A (p.Ser620=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003851197]	likely benign	X	153958193	153958193	Human	1	name
405189598	CV3156732	single nucleotide variant	NM_005334.3(HCFC1):c.1005C>T (p.Tyr335=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003859610]	likely benign	X	153960314	153960314	Human	1	name
405166231	CV3160567	single nucleotide variant	NM_005334.3(HCFC1):c.2547G>T (p.Val849=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003857447]	likely benign	X	153956713	153956713	Human	1	name
405200595	CV3164887	single nucleotide variant	NM_005334.3(HCFC1):c.1953C>T (p.Thr651=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003860748]	likely benign	X	153958100	153958100	Human	1	name
405204617	CV3165565	single nucleotide variant	NM_005334.3(HCFC1):c.2235G>A (p.Gly745=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003861231]	likely benign	X	153957432	153957432	Human	1	name
405193512	CV3167571	single nucleotide variant	NM_005334.3(HCFC1):c.1422G>A (p.Val474=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003859977]	likely benign	X	153959824	153959824	Human	1	name
405224154	CV3168815	single nucleotide variant	NM_005334.3(HCFC1):c.2472C>T (p.Gly824=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003864030]	likely benign	X	153956942	153956942	Human	1	name
402472434	CV3171788	single nucleotide variant	NM_005334.3(HCFC1):c.2343G>A (p.Ala781=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003874572]	likely benign	X	153957324	153957324	Human	1	name
405254149	CV3175003	single nucleotide variant	NM_005334.3(HCFC1):c.1677C>A (p.Ile559=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003871455]	likely benign	X	153958695	153958695	Human	1	name
405254672	CV3175472	single nucleotide variant	NM_005334.3(HCFC1):c.1770A>C (p.Pro590=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003871739]	benign	X	153958602	153958602	Human	1	name
405253058	CV3178184	single nucleotide variant	NM_005334.3(HCFC1):c.2727C>T (p.Pro909=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003870965]	benign	X	153956320	153956320	Human	1	name
405253767	CV3178634	single nucleotide variant	NM_005334.3(HCFC1):c.2931C>T (p.Leu977=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003871236]	likely benign	X	153955468	153955468	Human	1	name
402519734	CV3179401	single nucleotide variant	NM_005334.3(HCFC1):c.2532C>T (p.Thr844=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003879652]	benign	X	153956728	153956728	Human	1	name
405248887	CV3180087	single nucleotide variant	NM_005334.3(HCFC1):c.2784C>T (p.Ala928=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003869547]	likely benign	X	153956263	153956263	Human	1	name
402487987	CV3181895	single nucleotide variant	NM_005334.3(HCFC1):c.1002G>A (p.Leu334=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003876564]	likely benign	X	153960317	153960317	Human	1	name
402487822	CV3181953	single nucleotide variant	NM_005334.3(HCFC1):c.1104C>G (p.Ala368=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003876622]	benign	X	153960142	153960142	Human	1	name
402489838	CV3182247	single nucleotide variant	NM_005334.3(HCFC1):c.1498T>C (p.Leu500=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003876733]	benign	X	153959438	153959438	Human	1	name
402493684	CV3182905	single nucleotide variant	NM_005334.3(HCFC1):c.1833G>A (p.Lys611=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003877213]	benign	X	153958220	153958220	Human	1	name
408369083	CV3502739	single nucleotide variant	NM_005334.3(HCFC1):c.200A>G (p.Asn67Ser)	not provided [RCV004723860]	uncertain significance	X	153964720	153964720	Human		name
596948169	CV3549249	single nucleotide variant	NM_005334.3(HCFC1):c.2676C>T (p.Thr892=)	not provided [RCV004812069]	likely benign	X	153956371	153956371	Human		name
597943137	CV3757919	single nucleotide variant	NM_005334.3(HCFC1):c.2535C>T (p.Ile845=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005077918]	likely benign	X	153956725	153956725	Human	1	name
12834187	CV377891	single nucleotide variant	NM_005334.3(HCFC1):c.2394C>T (p.Ile798=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002488937]\|not specified [RCV000419932]	benign\|likely benign	X	153957020	153957020	Human	1	name
597881314	CV3783103	single nucleotide variant	NM_005334.3(HCFC1):c.1548G>A (p.Val516=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005123805]	likely benign	X	153959388	153959388	Human	1	name
12837007	CV379029	single nucleotide variant	NM_005334.3(HCFC1):c.2643G>A (p.Thr881=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638660]\|not specified [RCV000424409]	likely benign	X	153956404	153956404	Human	1	name
12847989	CV379114	single nucleotide variant	NM_005334.3(HCFC1):c.2787C>T (p.Ile929=)	HCFC1-related disorder [RCV003932674]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV000970564]\|not provided [RCV001702484]\|not specified [RCV000444476]	benign\|likely benign	X	153956260	153956260	Human	1	name , alternate_id
12836032	CV379118	single nucleotide variant	NM_005334.3(HCFC1):c.1119A>G (p.Val373=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV000891074]\|not specified [RCV000422700]	benign\|likely benign	X	153960127	153960127	Human	1	name
12843457	CV379969	single nucleotide variant	NM_005334.3(HCFC1):c.2382C>A (p.Ser794=)	HCFC1-related disorder [RCV003932601]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV000638563]\|not provided [RCV004713959]\|not specified [RCV000436258]	benign	X	153957032	153957032	Human	1	name , alternate_id
12847156	CV379971	single nucleotide variant	NM_005334.3(HCFC1):c.1560C>T (p.Pro520=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638655]\|not specified [RCV000442976]	benign\|likely benign	X	153959376	153959376	Human	1	name
597913069	CV3817366	single nucleotide variant	NM_005334.3(HCFC1):c.1569G>A (p.Val523=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005154568]	benign	X	153959367	153959367	Human	1	name
597964894	CV3830606	single nucleotide variant	NM_005334.3(HCFC1):c.2766G>A (p.Gln922=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005164746]	likely benign	X	153956281	153956281	Human	1	name
597954157	CV3844356	single nucleotide variant	NM_005334.3(HCFC1):c.2145C>T (p.Pro715=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005191029]	likely benign	X	153957522	153957522	Human	1	name
597926365	CV3855357	single nucleotide variant	NM_005334.3(HCFC1):c.1059C>T (p.Cys353=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005205956]	likely benign	X	153960260	153960260	Human	1	name
12902155	CV411174	indel	NM_005334.3(HCFC1):c.1781_1803+3delinsCA	not provided [RCV000486422]	likely pathogenic\|uncertain significance	X	153958566	153958591	Human		name
13215168	CV430704	single nucleotide variant	NM_005334.3(HCFC1):c.2604C>T (p.Ala868=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001514665]\|not specified [RCV000502145]	benign\|likely benign	X	153956656	153956656	Human	1	name
13216372	CV430705	single nucleotide variant	NM_005334.3(HCFC1):c.2289C>T (p.Pro763=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002527256]\|not provided [RCV001703180]\|not specified [RCV000503529]	likely benign	X	153957378	153957378	Human	1	name
13213907	CV430706	single nucleotide variant	NM_005334.3(HCFC1):c.1692A>G (p.Ala564=)	not specified [RCV000500475]	likely benign	X	153958680	153958680	Human		name
13215486	CV430707	single nucleotide variant	NM_005334.3(HCFC1):c.1461C>T (p.Leu487=)	not specified [RCV000502570]	likely benign	X	153959475	153959475	Human		name
13216657	CV430708	single nucleotide variant	NM_005334.3(HCFC1):c.1251C>T (p.Val417=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003766821]\|not specified [RCV000504035]	likely benign	X	153959995	153959995	Human	1	name
13214276	CV430710	single nucleotide variant	NM_005334.3(HCFC1):c.1122C>T (p.Arg374=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002524197]\|not specified [RCV000501063]	likely benign	X	153960124	153960124	Human	1	name
13473586	CV446557	insertion	NM_005334.3(HCFC1):c.2029-7_2029-6insTAA	not provided [RCV000519421]	uncertain significance	X	153957892	153957893	Human		name
13536003	CV507853	single nucleotide variant	NM_005334.3(HCFC1):c.2589C>T (p.Ser863=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002528553]\|not specified [RCV000608374]	benign\|likely benign	X	153956671	153956671	Human	1	name
13526759	CV507855	single nucleotide variant	NM_005334.3(HCFC1):c.2352G>A (p.Thr784=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638686]\|not specified [RCV000604571]	benign\|likely benign	X	153957315	153957315	Human	1	name
13540415	CV507975	single nucleotide variant	NM_005334.3(HCFC1):c.2592C>T (p.Ala864=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001516947]\|not provided [RCV003437315]\|not specified [RCV000614665]	benign\|likely benign	X	153956668	153956668	Human	1	name
13592639	CV508403	single nucleotide variant	NM_005334.3(HCFC1):c.2313C>T (p.Thr771=)	HCFC1-related disorder [RCV003962780]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV001513643]\|not provided [RCV003437312]\|not specified [RCV000605580]	benign\|likely benign	X	153957354	153957354	Human	1	name , alternate_id
13525632	CV508405	single nucleotide variant	NM_005334.3(HCFC1):c.1722C>T (p.Thr574=)	HCFC1-related disorder [RCV003980158]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV001409483]\|not specified [RCV000603325]	likely benign	X	153958650	153958650	Human	1	name , alternate_id
13534811	CV508552	single nucleotide variant	NM_005334.3(HCFC1):c.2817A>T (p.Thr939=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV000920930]\|not specified [RCV000602012]	likely benign	X	153956230	153956230	Human	1	name
13539553	CV508554	single nucleotide variant	NM_005334.3(HCFC1):c.1728C>T (p.Ile576=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003767525]\|not specified [RCV000613441]	likely benign	X	153958644	153958644	Human	1	name
13606751	CV534608	single nucleotide variant	NM_005334.3(HCFC1):c.2232G>A (p.Ala744=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV000638562]	likely benign	X	153957435	153957435	Human	1	name
14743221	CV656745	single nucleotide variant	NM_005334.3(HCFC1):c.1407C>T (p.Gly469=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638715]\|not provided [RCV000841906]	benign\|likely benign	X	153959839	153959839	Human	1	name
15141540	CV717716	single nucleotide variant	NM_005334.3(HCFC1):c.1842C>T (p.Ala614=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002548308]	likely benign	X	153958211	153958211	Human	1	name
15142070	CV743230	single nucleotide variant	NM_005334.3(HCFC1):c.2667C>T (p.Thr889=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV000899606]	benign	X	153956380	153956380	Human	1	name
15157944	CV743231	single nucleotide variant	NM_005334.3(HCFC1):c.2436G>A (p.Ala812=)	HCFC1-related disorder [RCV003932848]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV002540216]\|not provided [RCV000902634]	likely benign	X	153956978	153956978	Human	1	name , alternate_id
15155797	CV743232	single nucleotide variant	NM_005334.3(HCFC1):c.2346C>T (p.Gly782=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523035]	likely benign	X	153957321	153957321	Human	1	name
15198275	CV758372	single nucleotide variant	NM_005334.3(HCFC1):c.2316C>T (p.Ile772=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523037]	likely benign	X	153957351	153957351	Human	1	name
15109499	CV773883	single nucleotide variant	NM_005334.3(HCFC1):c.2973C>T (p.Thr991=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001432386]	likely benign	X	153955426	153955426	Human	1	name
15124520	CV773884	single nucleotide variant	NM_005334.3(HCFC1):c.1698G>A (p.Thr566=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV000941048]	likely benign	X	153958674	153958674	Human	1	name
8573572	CV77870	single nucleotide variant	NM_005334.3(HCFC1):c.218C>T (p.Ala73Val)	Cobalamin C disease [RCV001199845]\|Disorders of Intracellular Cobalamin Metabolism [RCV002513744]\|Intellectual disability [RCV000224133]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV000057507]\|not provided [RCV000224484]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	X	153964702	153964702	Human	5	name
8573573	CV77871	single nucleotide variant	NM_005334.3(HCFC1):c.217G>A (p.Ala73Thr)	Disorders of Intracellular Cobalamin Metabolism [RCV002513745]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV000057508]	pathogenic\|not provided	X	153964703	153964703	Human	2	name
15133179	CV786745	single nucleotide variant	NM_005334.3(HCFC1):c.2566C>T (p.Leu856=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV000981510]	likely benign	X	153956694	153956694	Human	1	name
15133880	CV786746	single nucleotide variant	NM_005334.3(HCFC1):c.1986C>T (p.Thr662=)	HCFC1-related disorder [RCV003962948]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV000981626]	benign\|likely benign	X	153958067	153958067	Human	1	name , alternate_id
15122426	CV786747	single nucleotide variant	NM_005334.3(HCFC1):c.1980C>T (p.Thr660=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002066480]	likely benign	X	153958073	153958073	Human	1	name
26905507	CV849777	single nucleotide variant	NM_005334.3(HCFC1):c.1398G>A (p.Thr466=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001037014]	benign\|uncertain significance	X	153959848	153959848	Human	1	name
38492542	CV929610	single nucleotide variant	NM_005334.3(HCFC1):c.1689G>A (p.Ser563=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001223620]	likely benign\|uncertain significance	X	153958683	153958683	Human	1	name
40814478	CV969427	single nucleotide variant	NM_005334.3(HCFC1):c.101A>C (p.His34Pro)	Intellectual disability [RCV001260714]	uncertain significance	X	153970740	153970740	Human	1	name
8642195	CV101179	single nucleotide variant	NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001514167]\|not provided [RCV004713243]\|not specified [RCV000081293]	benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	X	153954214	153954214	Human	1	name
8642196	CV101180	single nucleotide variant	NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001514858]\|not provided [RCV004713244]\|not specified [RCV000081294]	benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	X	153950388	153950388	Human	1	name
126733658	CV1022152	single nucleotide variant	NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001334385]	conflicting interpretations of pathogenicity\|uncertain significance	X	153952890	153952890	Human	1	name
127235770	CV1086400	single nucleotide variant	NM_005334.3(HCFC1):c.6009C>T (p.Thr2003=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001396765]	likely benign	X	153949612	153949612	Human	1	name
127242877	CV1086401	single nucleotide variant	NM_005334.3(HCFC1):c.5289C>T (p.Ala1763=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001393415]	likely benign	X	153951679	153951679	Human	1	name
127230063	CV1086402	single nucleotide variant	NM_005334.3(HCFC1):c.3399A>G (p.Arg1133=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001412324]	likely benign	X	153955000	153955000	Human	1	name
127272693	CV1108146	single nucleotide variant	NM_005334.3(HCFC1):c.4548A>T (p.Pro1516=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001442298]	likely benign	X	153952908	153952908	Human	1	name
127321866	CV1129507	single nucleotide variant	NM_005334.3(HCFC1):c.5848C>A (p.Arg1950=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001467394]	likely benign	X	153950399	153950399	Human	1	name
127292451	CV1129508	single nucleotide variant	NM_005334.3(HCFC1):c.5823C>G (p.Ser1941=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001476307]	likely benign	X	153950424	153950424	Human	1	name
127335739	CV1129510	single nucleotide variant	NM_005334.3(HCFC1):c.4308C>T (p.Val1436=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001474463]	likely benign	X	153954091	153954091	Human	1	name
127316573	CV1150554	single nucleotide variant	NM_005334.3(HCFC1):c.5076T>G (p.Ala1692=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001482909]\|not provided [RCV003434268]	likely benign	X	153952025	153952025	Human	1	name
127292737	CV1159470	single nucleotide variant	NM_005334.3(HCFC1):c.5496A>G (p.Pro1832=)	HCFC1-related disorder [RCV003966065]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV001510972]	benign\|likely benign	X	153951371	153951371	Human	1	name , alternate_id
127290859	CV1159473	single nucleotide variant	NM_005334.3(HCFC1):c.4017C>T (p.Asn1339=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001510034]	benign	X	153954382	153954382	Human	1	name
127318293	CV1159474	single nucleotide variant	NM_005334.3(HCFC1):c.3960G>A (p.Pro1320=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001521571]	benign	X	153954439	153954439	Human	1	name
150436316	CV1274891	single nucleotide variant	NM_005334.3(HCFC1):c.4194C>T (p.Ser1398=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638804]\|not provided [RCV001702285]	benign\|likely benign	X	153954205	153954205	Human	1	name
150521405	CV1289076	single nucleotide variant	NM_005334.3(HCFC1):c.4893G>A (p.Gln1631=)	not provided [RCV001725840]	likely benign	X	153952563	153952563	Human		name
150551762	CV1295223	single nucleotide variant	NM_005334.3(HCFC1):c.742A>T (p.Ser248Cys)	not provided [RCV001754516]	uncertain significance	X	153962277	153962277	Human		name
150551385	CV1297337	single nucleotide variant	NM_005334.3(HCFC1):c.791G>C (p.Gly264Ala)	not provided [RCV001767019]	uncertain significance	X	153962228	153962228	Human		name
150552194	CV1302275	single nucleotide variant	NM_005334.3(HCFC1):c.985G>A (p.Ala329Thr)	not provided [RCV001767539]	uncertain significance	X	153960334	153960334	Human		name
150547991	CV1303958	single nucleotide variant	NM_005334.3(HCFC1):c.979G>T (p.Ala327Ser)	not provided [RCV001764061]	uncertain significance	X	153960340	153960340	Human		name
151353594	CV1326769	single nucleotide variant	NM_005334.3(HCFC1):c.5772C>G (p.Ser1924=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638817]\|not provided [RCV001816561]	likely benign	X	153950475	153950475	Human	1	name
151353996	CV1327548	single nucleotide variant	NM_005334.3(HCFC1):c.5889C>T (p.Ser1963=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002077287]\|not specified [RCV001817492]	likely benign\|uncertain significance	X	153950358	153950358	Human	1	name
8659713	CV134668	single nucleotide variant	NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001514166]\|not provided [RCV004713287]\|not specified [RCV000117217]	benign\|likely benign\|conflicting interpretations of pathogenicity	X	153952914	153952914	Human	1	name
152052638	CV1523613	single nucleotide variant	NM_005334.3(HCFC1):c.5160C>T (p.Ala1720=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002127424]\|not provided [RCV003222393]	benign\|likely benign	X	153951941	153951941	Human	1	name
152131000	CV1523649	single nucleotide variant	NM_005334.3(HCFC1):c.4158C>G (p.Thr1386=)	HCFC1-related disorder [RCV003951121]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV002136916]	benign\|likely benign	X	153954241	153954241	Human	1	name , alternate_id
152044212	CV1525544	single nucleotide variant	NM_005334.3(HCFC1):c.3282C>T (p.Ala1094=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002126468]	likely benign	X	153955117	153955117	Human	1	name
152089949	CV1550515	single nucleotide variant	NM_005334.3(HCFC1):c.5206C>T (p.Leu1736=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002131919]	benign\|likely benign	X	153951895	153951895	Human	1	name
152149083	CV1566449	single nucleotide variant	NM_005334.3(HCFC1):c.5952C>T (p.Ala1984=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002139244]\|not provided [RCV005424807]	benign\|likely benign	X	153950295	153950295	Human	1	name
152123774	CV1570640	single nucleotide variant	NM_005334.3(HCFC1):c.4806C>T (p.Leu1602=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002217127]	likely benign	X	153952650	153952650	Human	1	name
152062663	CV1595238	single nucleotide variant	NM_005334.3(HCFC1):c.3558G>A (p.Pro1186=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002190719]	likely benign	X	153954841	153954841	Human	1	name
152045649	CV1600174	single nucleotide variant	NM_005334.3(HCFC1):c.4926G>A (p.Ala1642=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002088519]	likely benign	X	153952530	153952530	Human	1	name
152105065	CV1609433	single nucleotide variant	NM_005334.3(HCFC1):c.5904C>T (p.Asn1968=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002115833]\|not provided [RCV004721021]	benign\|likely benign	X	153950343	153950343	Human	1	name
152087759	CV1625985	single nucleotide variant	NM_005334.3(HCFC1):c.5172C>T (p.Asn1724=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002131656]	likely benign	X	153951929	153951929	Human	1	name
152032129	CV1629327	single nucleotide variant	NM_005334.3(HCFC1):c.3987C>T (p.Thr1329=)	HCFC1-related disorder [RCV003933548]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV002106300]	benign\|likely benign	X	153954412	153954412	Human	1	name , alternate_id
152032992	CV1643225	single nucleotide variant	NM_005334.3(HCFC1):c.3603C>A (p.Pro1201=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002205085]	likely benign	X	153954796	153954796	Human	1	name
152163722	CV1646699	single nucleotide variant	NM_005334.3(HCFC1):c.5370C>T (p.Ser1790=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002160103]	likely benign	X	153951598	153951598	Human	1	name
152090633	CV1661939	single nucleotide variant	NM_005334.3(HCFC1):c.4896C>T (p.Ala1632=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002131999]	benign	X	153952560	153952560	Human	1	name
155997215	CV1667572	single nucleotide variant	NM_005334.3(HCFC1):c.4521G>A (p.Ser1507=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002996844]	likely benign	X	153952935	153952935	Human	1	name
152156669	CV1668658	single nucleotide variant	NM_005334.3(HCFC1):c.3858C>T (p.Thr1286=)	not specified [RCV002222884]	likely benign	X	153954541	153954541	Human		name
155714839	CV1760383	single nucleotide variant	NM_005334.3(HCFC1):c.745G>A (p.Gly249Arg)	not provided [RCV002300890]	uncertain significance	X	153962274	153962274	Human		name
9692981	CV177761	single nucleotide variant	NM_005334.3(HCFC1):c.6042C>T (p.Asn2014=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002056033]\|not provided [RCV000153346]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	153949579	153949579	Human	1	name
9688689	CV177762	single nucleotide variant	NM_005334.3(HCFC1):c.4545G>A (p.Pro1515=)	HCFC1-related disorder [RCV003937424]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV001510628]\|not provided [RCV004713387]\|not specified [RCV000153347]	benign	X	153952911	153952911	Human	1	name , alternate_id
156049118	CV1884291	single nucleotide variant	NM_005334.3(HCFC1):c.3723C>T (p.Ala1241=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003078805]	likely benign	X	153954676	153954676	Human	1	name
156203711	CV1905747	single nucleotide variant	NM_005334.3(HCFC1):c.323A>G (p.Asn108Ser)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003084313]	likely benign\|uncertain significance	X	153964597	153964597	Human	1	name
156060985	CV1924453	single nucleotide variant	NM_005334.3(HCFC1):c.3564G>A (p.Ser1188=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002659697]	benign	X	153954835	153954835	Human	1	name
156419219	CV1926382	single nucleotide variant	NM_005334.3(HCFC1):c.4995G>A (p.Ala1665=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002612439]\|not provided [RCV003434589]	benign\|likely benign	X	153952106	153952106	Human	1	name
10051099	CV192920	single nucleotide variant	NM_005334.3(HCFC1):c.5664T>G (p.Pro1888=)	not provided [RCV000176405]	uncertain significance	X	153950852	153950852	Human		name
156415342	CV1990976	single nucleotide variant	NM_005334.3(HCFC1):c.4716C>G (p.Val1572=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002609623]	likely benign	X	153952740	153952740	Human	1	name
156266823	CV1993968	single nucleotide variant	NM_005334.3(HCFC1):c.5016C>T (p.Ala1672=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002646400]	likely benign	X	153952085	153952085	Human	1	name
156125780	CV2036303	single nucleotide variant	NM_005334.3(HCFC1):c.3666C>T (p.Ser1222=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002785971]	benign	X	153954733	153954733	Human	1	name
156017518	CV2083631	single nucleotide variant	NM_005334.3(HCFC1):c.4455C>T (p.Thr1485=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002866435]	likely benign	X	153953649	153953649	Human	1	name
10404562	CV208937	single nucleotide variant	NM_005334.3(HCFC1):c.3690G>A (p.Ala1230=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002054266]\|not specified [RCV000193189]	likely benign\|uncertain significance	X	153954709	153954709	Human	1	name
10404644	CV208938	single nucleotide variant	NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=)	HCFC1-related disorder [RCV003947606]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV000638561]\|not provided [RCV001726038]\|not specified [RCV000194960]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	153954907	153954907	Human	1	name , alternate_id
10404599	CV208939	single nucleotide variant	NM_005334.3(HCFC1):c.3126G>A (p.Gln1042=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522945]\|not specified [RCV000194081]	benign\|uncertain significance	X	153955273	153955273	Human	1	name
156090216	CV2092316	single nucleotide variant	NM_005334.3(HCFC1):c.3981G>A (p.Thr1327=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002913008]	benign	X	153954418	153954418	Human	1	name
156102453	CV2099334	single nucleotide variant	NM_005334.3(HCFC1):c.3708G>C (p.Ala1236=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002913456]	likely benign	X	153954691	153954691	Human	1	name
155925847	CV2099566	single nucleotide variant	NM_005334.3(HCFC1):c.5553G>T (p.Leu1851=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002903568]	benign	X	153950963	153950963	Human	1	name
156150482	CV2100274	single nucleotide variant	NM_005334.3(HCFC1):c.5229T>C (p.Thr1743=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002872302]\|not provided [RCV003883840]	likely benign	X	153951872	153951872	Human	1	name
156268108	CV2102682	single nucleotide variant	NM_005334.3(HCFC1):c.4575A>G (p.Thr1525=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002895832]\|not provided [RCV003434518]	likely benign	X	153952881	153952881	Human	1	name
156213903	CV2110819	single nucleotide variant	NM_005334.3(HCFC1):c.5763C>T (p.Ile1921=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002918277]	likely benign	X	153950484	153950484	Human	1	name
156118388	CV2115831	single nucleotide variant	NM_005334.3(HCFC1):c.5166T>C (p.Ser1722=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002927713]	benign	X	153951935	153951935	Human	1	name
155938904	CV2132435	single nucleotide variant	NM_005334.3(HCFC1):c.5346C>T (p.Thr1782=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002993920]	likely benign	X	153951622	153951622	Human	1	name
156319370	CV2137951	single nucleotide variant	NM_005334.3(HCFC1):c.5772C>T (p.Ser1924=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002963097]	benign	X	153950475	153950475	Human	1	name
155992801	CV2147704	single nucleotide variant	NM_005334.3(HCFC1):c.4455C>G (p.Thr1485=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003016910]	benign	X	153953649	153953649	Human	1	name
156068741	CV2167138	single nucleotide variant	NM_005334.3(HCFC1):c.3658C>T (p.Leu1220=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003019972]	likely benign	X	153954741	153954741	Human	1	name
156056812	CV2192767	single nucleotide variant	NM_005334.3(HCFC1):c.307T>C (p.Tyr103His)	Disorders of Intracellular Cobalamin Metabolism [RCV003037110]	not provided	X	153964613	153964613	Human		name
156250253	CV2192768	single nucleotide variant	NM_005334.3(HCFC1):c.343G>A (p.Ala115Thr)	Disorders of Intracellular Cobalamin Metabolism [RCV003060001]	not provided	X	153964284	153964284	Human		name
156326598	CV2219643	single nucleotide variant	NM_005334.3(HCFC1):c.349C>T (p.Arg117Trp)	Inborn genetic diseases [RCV002717486]	uncertain significance	X	153964278	153964278	Human	1	name
156198451	CV2237434	deletion	NM_005334.3(HCFC1):c.22_24del (p.Ala8del)	Inborn genetic diseases [RCV002743282]	uncertain significance	X	153970817	153970819	Human	1	name
156448716	CV2402126	single nucleotide variant	NM_005334.3(HCFC1):c.4638C>T (p.Ala1546=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003120285]	benign\|likely benign	X	153952818	153952818	Human	1	name
243059935	CV2412876	single nucleotide variant	NM_005334.3(HCFC1):c.5244C>T (p.Pro1748=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003135516]	uncertain significance	X	153951857	153951857	Human	1	name
243052770	CV2412877	single nucleotide variant	NM_005334.3(HCFC1):c.790G>A (p.Gly264Arg)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003131100]	uncertain significance	X	153962229	153962229	Human	1	name
329847428	CV2524264	single nucleotide variant	NM_005334.3(HCFC1):c.932T>C (p.Met311Thr)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003779822]\|not provided [RCV003227156]	uncertain significance	X	153960387	153960387	Human	1	name
401828110	CV2744480	single nucleotide variant	NM_005334.3(HCFC1):c.614C>G (p.Ala205Gly)	not provided [RCV003327877]	uncertain significance	X	153963323	153963323	Human		name
401902106	CV2804195	single nucleotide variant	NM_005334.3(HCFC1):c.3489G>A (p.Lys1163=)	HCFC1-related disorder [RCV003418775]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV003638951]	likely benign\|uncertain significance	X	153954910	153954910	Human	1	name , alternate_id
401925166	CV2805281	single nucleotide variant	NM_005334.3(HCFC1):c.4203C>G (p.Pro1401=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638955]\|not specified [RCV003405102]	likely benign	X	153954196	153954196	Human	1	name
401921758	CV2824333	single nucleotide variant	NM_005334.3(HCFC1):c.5709G>A (p.Pro1903=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638958]\|not provided [RCV003432644]	likely benign	X	153950538	153950538	Human	1	name
401921760	CV2824334	single nucleotide variant	NM_005334.3(HCFC1):c.5217G>A (p.Thr1739=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523177]\|not provided [RCV003432645]	benign\|likely benign	X	153951884	153951884	Human	1	name
401921762	CV2824336	single nucleotide variant	NM_005334.3(HCFC1):c.4620C>T (p.Thr1540=)	not provided [RCV003432647]	likely benign	X	153952836	153952836	Human		name
401929846	CV2824339	single nucleotide variant	NM_005334.3(HCFC1):c.3756C>A (p.Pro1252=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003778463]\|not provided [RCV003440016]	likely benign	X	153954643	153954643	Human	1	name
405063494	CV2854050	single nucleotide variant	NM_005334.3(HCFC1):c.4188A>G (p.Ala1396=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523299]	likely benign	X	153954211	153954211	Human	1	name
405063292	CV2857459	single nucleotide variant	NM_005334.3(HCFC1):c.5040C>T (p.Thr1680=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523282]	likely benign	X	153952061	153952061	Human	1	name
405072307	CV2859027	single nucleotide variant	NM_005334.3(HCFC1):c.5718T>C (p.Ala1906=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523934]	likely benign	X	153950529	153950529	Human	1	name
405072336	CV2859062	single nucleotide variant	NM_005334.3(HCFC1):c.3852C>T (p.Thr1284=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523936]	benign	X	153954547	153954547	Human	1	name
405075025	CV2860267	single nucleotide variant	NM_005334.3(HCFC1):c.4272C>G (p.Thr1424=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524098]	likely benign	X	153954127	153954127	Human	1	name
405072137	CV2862141	single nucleotide variant	NM_005334.3(HCFC1):c.5214C>A (p.Gly1738=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523922]	likely benign	X	153951887	153951887	Human	1	name
405072880	CV2865387	single nucleotide variant	NM_005334.3(HCFC1):c.3732T>C (p.Arg1244=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523903]	likely benign	X	153954667	153954667	Human	1	name
405074460	CV2866647	single nucleotide variant	NM_005334.3(HCFC1):c.5406C>T (p.Ser1802=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524061]	likely benign	X	153951461	153951461	Human	1	name
405078545	CV2868581	single nucleotide variant	NM_005334.3(HCFC1):c.4953G>A (p.Glu1651=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524361]	likely benign	X	153952148	153952148	Human	1	name
405052694	CV2873342	single nucleotide variant	NM_005334.3(HCFC1):c.5208G>A (p.Leu1736=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522283]	likely benign	X	153951893	153951893	Human	1	name
405052778	CV2873495	single nucleotide variant	NM_005334.3(HCFC1):c.4476G>A (p.Pro1492=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522290]	benign	X	153953628	153953628	Human	1	name
405052788	CV2873507	single nucleotide variant	NM_005334.3(HCFC1):c.3966C>T (p.Cys1322=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522291]	likely benign	X	153954433	153954433	Human	1	name
405076440	CV2874411	single nucleotide variant	NM_005334.3(HCFC1):c.4632G>T (p.Pro1544=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524190]	likely benign	X	153952824	153952824	Human	1	name
405051702	CV2876383	single nucleotide variant	NM_005334.3(HCFC1):c.4389C>T (p.Ser1463=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522195]	benign	X	153953715	153953715	Human	1	name
405075258	CV2877368	single nucleotide variant	NM_005334.3(HCFC1):c.3018T>G (p.Pro1006=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524115]	likely benign	X	153955381	153955381	Human	1	name
405076108	CV2877671	single nucleotide variant	NM_005334.3(HCFC1):c.5646C>T (p.Ala1882=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524168]	likely benign	X	153950870	153950870	Human	1	name
405076197	CV2877867	single nucleotide variant	NM_005334.3(HCFC1):c.5532C>G (p.Thr1844=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524174]	likely benign	X	153950984	153950984	Human	1	name
405052337	CV2880342	single nucleotide variant	NM_005334.3(HCFC1):c.3774C>T (p.Cys1258=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522250]	benign	X	153954625	153954625	Human	1	name
405055253	CV2881820	single nucleotide variant	NM_005334.3(HCFC1):c.3939C>T (p.Ala1313=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522493]	likely benign	X	153954460	153954460	Human	1	name
404989256	CV2882501	single nucleotide variant	NM_005334.3(HCFC1):c.4161G>C (p.Val1387=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524899]	likely benign	X	153954238	153954238	Human	1	name
404990259	CV2882854	single nucleotide variant	NM_005334.3(HCFC1):c.4740C>T (p.Ser1580=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524981]	benign	X	153952716	153952716	Human	1	name
405053044	CV2884096	single nucleotide variant	NM_005334.3(HCFC1):c.4872C>T (p.Ala1624=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522311]	likely benign	X	153952584	153952584	Human	1	name
404990088	CV2886421	single nucleotide variant	NM_005334.3(HCFC1):c.4632G>A (p.Pro1544=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524963]	benign	X	153952824	153952824	Human	1	name
404990887	CV2886628	single nucleotide variant	NM_005334.3(HCFC1):c.4005C>T (p.Thr1335=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003525047]	benign	X	153954394	153954394	Human	1	name
405054418	CV2887643	single nucleotide variant	NM_005334.3(HCFC1):c.5226C>T (p.Ser1742=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522372]	likely benign	X	153951875	153951875	Human	1	name
405053884	CV2887857	single nucleotide variant	NM_005334.3(HCFC1):c.4398C>T (p.Ile1466=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522383]	benign	X	153953706	153953706	Human	1	name
405055667	CV2888424	single nucleotide variant	NM_005334.3(HCFC1):c.4935C>T (p.Ala1645=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522523]	benign	X	153952521	153952521	Human	1	name
405055749	CV2888573	single nucleotide variant	NM_005334.3(HCFC1):c.5121G>A (p.Gln1707=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522529]	likely benign	X	153951980	153951980	Human	1	name
404989177	CV2888858	single nucleotide variant	NM_005334.3(HCFC1):c.5808C>G (p.Gly1936=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524865]	likely benign	X	153950439	153950439	Human	1	name
404989581	CV2889309	single nucleotide variant	NM_005334.3(HCFC1):c.3483C>T (p.Gly1161=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524935]	benign	X	153954916	153954916	Human	1	name
405053518	CV2891116	single nucleotide variant	NM_005334.3(HCFC1):c.5232G>A (p.Val1744=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522352]	likely benign	X	153951869	153951869	Human	1	name
405054562	CV2891334	single nucleotide variant	NM_005334.3(HCFC1):c.3354C>T (p.Asn1118=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522361]	benign	X	153955045	153955045	Human	1	name
405055333	CV2891904	single nucleotide variant	NM_005334.3(HCFC1):c.4077A>G (p.Thr1359=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522500]	likely benign	X	153954322	153954322	Human	1	name
405058155	CV2892417	single nucleotide variant	NM_005334.3(HCFC1):c.520T>C (p.Tyr174His)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522589]	likely benign	X	153963417	153963417	Human	1	name
404992248	CV2894270	single nucleotide variant	NM_005334.3(HCFC1):c.4341A>G (p.Pro1447=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003525199]	benign	X	153953763	153953763	Human	1	name
404993008	CV2894653	single nucleotide variant	NM_005334.3(HCFC1):c.4506G>A (p.Glu1502=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003525287]	likely benign	X	153952950	153952950	Human	1	name
405066161	CV2895788	single nucleotide variant	NM_005334.3(HCFC1):c.3063C>T (p.His1021=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523510]	benign	X	153955336	153955336	Human	1	name
405066200	CV2895874	single nucleotide variant	NM_005334.3(HCFC1):c.4203C>A (p.Pro1401=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523513]	likely benign	X	153954196	153954196	Human	1	name
405068006	CV2899973	single nucleotide variant	NM_005334.3(HCFC1):c.5979G>A (p.Pro1993=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523559]	likely benign	X	153950268	153950268	Human	1	name
405069075	CV2900888	single nucleotide variant	NM_005334.3(HCFC1):c.6039C>G (p.Ala2013=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523689]	likely benign	X	153949582	153949582	Human	1	name
404993322	CV2901547	single nucleotide variant	NM_005334.3(HCFC1):c.5604A>C (p.Gly1868=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003525322]	likely benign	X	153950912	153950912	Human	1	name
405065438	CV2902183	single nucleotide variant	NM_005334.3(HCFC1):c.3603C>T (p.Pro1201=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523460]	likely benign	X	153954796	153954796	Human	1	name
405067664	CV2903135	single nucleotide variant	NM_005334.3(HCFC1):c.4503A>G (p.Pro1501=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523617]	likely benign	X	153952953	153952953	Human	1	name
405069772	CV2903926	single nucleotide variant	NM_005334.3(HCFC1):c.5313C>T (p.Ser1771=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523736]	likely benign	X	153951655	153951655	Human	1	name
405066431	CV2906116	single nucleotide variant	NM_005334.3(HCFC1):c.3996G>A (p.Thr1332=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523528]	likely benign	X	153954403	153954403	Human	1	name
405067347	CV2906539	single nucleotide variant	NM_005334.3(HCFC1):c.5118G>A (p.Gln1706=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523595]	benign	X	153951983	153951983	Human	1	name
405069627	CV2907369	single nucleotide variant	NM_005334.3(HCFC1):c.4230T>G (p.Pro1410=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523727]	likely benign	X	153954169	153954169	Human	1	name
404987003	CV2910010	single nucleotide variant	NM_005334.3(HCFC1):c.4752G>A (p.Gln1584=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524586]	likely benign	X	153952704	153952704	Human	1	name
405070071	CV2911893	single nucleotide variant	NM_005334.3(HCFC1):c.4092C>G (p.Ser1364=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523756]	likely benign	X	153954307	153954307	Human	1	name
405070985	CV2912430	single nucleotide variant	NM_005334.3(HCFC1):c.5008C>T (p.Leu1670=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523820]	likely benign	X	153952093	153952093	Human	1	name
405079581	CV2913499	single nucleotide variant	NM_005334.3(HCFC1):c.4533C>T (p.Arg1511=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524452]	likely benign	X	153952923	153952923	Human	1	name
404986645	CV2917186	single nucleotide variant	NM_005334.3(HCFC1):c.4524A>G (p.Pro1508=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524613]	likely benign	X	153952932	153952932	Human	1	name
404987415	CV2917706	single nucleotide variant	NM_005334.3(HCFC1):c.5223C>T (p.Pro1741=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524685]	likely benign	X	153951878	153951878	Human	1	name
404987527	CV2917916	single nucleotide variant	NM_005334.3(HCFC1):c.5169C>T (p.Leu1723=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524696]	likely benign	X	153951932	153951932	Human	1	name
405078684	CV2919011	single nucleotide variant	NM_005334.3(HCFC1):c.4104C>T (p.Thr1368=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003524372]	likely benign	X	153954295	153954295	Human	1	name
405078756	CV2919189	single nucleotide variant	NM_005334.3(HCFC1):c.3567C>T (p.Ala1189=)	HCFC1-related disorder [RCV003919297]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV003524377]	benign\|likely benign	X	153954832	153954832	Human	1	name , alternate_id
405060912	CV2924216	single nucleotide variant	NM_005334.3(HCFC1):c.5040C>G (p.Thr1680=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522871]	likely benign	X	153952061	153952061	Human	1	name
405059326	CV2927109	single nucleotide variant	NM_005334.3(HCFC1):c.3330G>A (p.Glu1110=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522810]	likely benign	X	153955069	153955069	Human	1	name
405175439	CV2938335	single nucleotide variant	NM_005334.3(HCFC1):c.5934C>T (p.Ala1978=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639057]	likely benign	X	153950313	153950313	Human	1	name
405178547	CV2938385	single nucleotide variant	NM_005334.3(HCFC1):c.4458C>G (p.Thr1486=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639381]	likely benign	X	153953646	153953646	Human	1	name
405178721	CV2942139	single nucleotide variant	NM_005334.3(HCFC1):c.4062T>C (p.Gly1354=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639399]	likely benign	X	153954337	153954337	Human	1	name
405178653	CV2945242	single nucleotide variant	NM_005334.3(HCFC1):c.4698G>A (p.Val1566=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639392]	likely benign	X	153952758	153952758	Human	1	name
405174852	CV2946726	single nucleotide variant	NM_005334.3(HCFC1):c.4221G>A (p.Leu1407=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638999]	benign	X	153954178	153954178	Human	1	name
405175091	CV2947564	single nucleotide variant	NM_005334.3(HCFC1):c.4617G>A (p.Gln1539=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639023]	benign	X	153952839	153952839	Human	1	name
405175102	CV2947565	single nucleotide variant	NM_005334.3(HCFC1):c.5568G>A (p.Leu1856=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639024]	likely benign	X	153950948	153950948	Human	1	name
405179160	CV2949807	single nucleotide variant	NM_005334.3(HCFC1):c.4128G>T (p.Leu1376=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639443]	likely benign	X	153954271	153954271	Human	1	name
405179167	CV2949856	single nucleotide variant	NM_005334.3(HCFC1):c.4779C>T (p.Ala1593=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639444]	likely benign	X	153952677	153952677	Human	1	name
405179378	CV2950120	single nucleotide variant	NM_005334.3(HCFC1):c.4293C>T (p.His1431=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639465]	likely benign	X	153954106	153954106	Human	1	name
405180468	CV2950612	single nucleotide variant	NM_005334.3(HCFC1):c.4845G>A (p.Thr1615=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639490]	likely benign	X	153952611	153952611	Human	1	name
405180537	CV2952786	insertion	NM_005334.3(HCFC1):c.4334-10_4334-9insGCC	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639588]	likely benign	X	153953779	153953780	Human	1	name
405179108	CV2953262	single nucleotide variant	NM_005334.3(HCFC1):c.4827C>T (p.Pro1609=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639438]	likely benign	X	153952629	153952629	Human	1	name
405180096	CV2953458	single nucleotide variant	NM_005334.3(HCFC1):c.3216C>G (p.Val1072=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639458]	likely benign	X	153955183	153955183	Human	1	name
405180019	CV2956884	single nucleotide variant	NM_005334.3(HCFC1):c.5856C>T (p.Tyr1952=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639434]	likely benign	X	153950391	153950391	Human	1	name
405180341	CV2957424	single nucleotide variant	NM_005334.3(HCFC1):c.5931C>A (p.Pro1977=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639479]	likely benign	X	153950316	153950316	Human	1	name
405180254	CV2959245	single nucleotide variant	NM_005334.3(HCFC1):c.4263C>G (p.Pro1421=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639555]	likely benign	X	153954136	153954136	Human	1	name
405179231	CV2960050	single nucleotide variant	NM_005334.3(HCFC1):c.4635C>G (p.Ala1545=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639451]	likely benign	X	153952821	153952821	Human	1	name
405179242	CV2960093	single nucleotide variant	NM_005334.3(HCFC1):c.4383C>T (p.Gly1461=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639452]	likely benign	X	153953721	153953721	Human	1	name
405179273	CV2960320	single nucleotide variant	NM_005334.3(HCFC1):c.3933C>G (p.Gly1311=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639455]	benign	X	153954466	153954466	Human	1	name
405181024	CV2961770	single nucleotide variant	NM_005334.3(HCFC1):c.5148C>T (p.Ala1716=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639530]	likely benign	X	153951953	153951953	Human	1	name
405180378	CV2962707	single nucleotide variant	NM_005334.3(HCFC1):c.3549C>T (p.Thr1183=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639569]	likely benign	X	153954850	153954850	Human	1	name
405180402	CV2962757	single nucleotide variant	NM_005334.3(HCFC1):c.5961T>C (p.Asn1987=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639572]	likely benign	X	153950286	153950286	Human	1	name
405180737	CV2963529	single nucleotide variant	NM_005334.3(HCFC1):c.5505T>C (p.Ala1835=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639611]	likely benign	X	153951362	153951362	Human	1	name
405180772	CV2963722	single nucleotide variant	NM_005334.3(HCFC1):c.3744T>A (p.Gly1248=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639615]	likely benign	X	153954655	153954655	Human	1	name
405182222	CV2966512	single nucleotide variant	NM_005334.3(HCFC1):c.3369C>T (p.Ala1123=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639769]	likely benign	X	153955030	153955030	Human	1	name
405180682	CV2967109	single nucleotide variant	NM_005334.3(HCFC1):c.4962C>T (p.Asp1654=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639604]	likely benign	X	153952139	153952139	Human	1	name
405180841	CV2970896	single nucleotide variant	NM_005334.3(HCFC1):c.3714C>T (p.Ser1238=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639623]	likely benign	X	153954685	153954685	Human	1	name
405181330	CV2975016	single nucleotide variant	NM_005334.3(HCFC1):c.4299C>T (p.Ala1433=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639681]	likely benign	X	153954100	153954100	Human	1	name
405182481	CV2978028	single nucleotide variant	NM_005334.3(HCFC1):c.4239A>C (p.Thr1413=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639826]	likely benign	X	153954160	153954160	Human	1	name
405183465	CV2979661	single nucleotide variant	NM_005334.3(HCFC1):c.4821C>T (p.Leu1607=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639929]	likely benign	X	153952635	153952635	Human	1	name
405183030	CV2982936	single nucleotide variant	NM_005334.3(HCFC1):c.3792C>T (p.Gly1264=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639898]	likely benign	X	153954607	153954607	Human	1	name
405182550	CV2988371	single nucleotide variant	NM_005334.3(HCFC1):c.4734A>G (p.Thr1578=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639835]	likely benign	X	153952722	153952722	Human	1	name
405184973	CV2997041	single nucleotide variant	NM_005334.3(HCFC1):c.3834G>A (p.Leu1278=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640114]	likely benign	X	153954565	153954565	Human	1	name
405185160	CV2997152	single nucleotide variant	NM_005334.3(HCFC1):c.5898T>G (p.Leu1966=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640136]	likely benign	X	153950349	153950349	Human	1	name
405183869	CV2997558	single nucleotide variant	NM_005334.3(HCFC1):c.4527T>A (p.Gly1509=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639959]	likely benign	X	153952929	153952929	Human	1	name
405183537	CV2997789	single nucleotide variant	NM_005334.3(HCFC1):c.3783C>T (p.Leu1261=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639962]	likely benign	X	153954616	153954616	Human	1	name
405184410	CV2999290	single nucleotide variant	NM_005334.3(HCFC1):c.4974A>G (p.Ala1658=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640052]	likely benign	X	153952127	153952127	Human	1	name
405183640	CV3001110	single nucleotide variant	NM_005334.3(HCFC1):c.6051C>T (p.Pro2017=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639976]	likely benign	X	153949570	153949570	Human	1	name
405183810	CV3001373	single nucleotide variant	NM_005334.3(HCFC1):c.3378C>T (p.Ser1126=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639998]	likely benign	X	153955021	153955021	Human	1	name
405185547	CV3008250	single nucleotide variant	NM_005334.3(HCFC1):c.4443G>A (p.Thr1481=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640179]	likely benign	X	153953661	153953661	Human	1	name
405186249	CV3010010	single nucleotide variant	NM_005334.3(HCFC1):c.4284C>T (p.Gly1428=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640261]	likely benign	X	153954115	153954115	Human	1	name
405185860	CV3012518	single nucleotide variant	NM_005334.3(HCFC1):c.5727C>T (p.Thr1909=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640216]	likely benign	X	153950520	153950520	Human	1	name
405186116	CV3013312	single nucleotide variant	NM_005334.3(HCFC1):c.5913C>T (p.Ile1971=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640245]	likely benign	X	153950334	153950334	Human	1	name
405185622	CV3014965	single nucleotide variant	NM_005334.3(HCFC1):c.5943C>T (p.Phe1981=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640188]	likely benign	X	153950304	153950304	Human	1	name
405185794	CV3015306	single nucleotide variant	NM_005334.3(HCFC1):c.3285C>T (p.Thr1095=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640208]	likely benign	X	153955114	153955114	Human	1	name
405185816	CV3015592	single nucleotide variant	NM_005334.3(HCFC1):c.4224G>A (p.Leu1408=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003640211]	likely benign	X	153954175	153954175	Human	1	name
405166795	CV3019029	single nucleotide variant	NM_005334.3(HCFC1):c.5280A>G (p.Thr1760=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638135]	likely benign	X	153951688	153951688	Human	1	name
405167496	CV3022306	single nucleotide variant	NM_005334.3(HCFC1):c.3537T>A (p.Thr1179=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638125]	likely benign	X	153954862	153954862	Human	1	name
405169038	CV3031735	single nucleotide variant	NM_005334.3(HCFC1):c.5481C>T (p.His1827=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638249]	likely benign	X	153951386	153951386	Human	1	name
405168413	CV3032449	single nucleotide variant	NM_005334.3(HCFC1):c.5577C>G (p.Gly1859=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638273]	likely benign	X	153950939	153950939	Human	1	name
405168700	CV3036103	single nucleotide variant	NM_005334.3(HCFC1):c.4482G>C (p.Pro1494=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638299]	likely benign	X	153953622	153953622	Human	1	name
405170148	CV3036392	single nucleotide variant	NM_005334.3(HCFC1):c.4785C>G (p.Ala1595=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638301]	likely benign	X	153952671	153952671	Human	1	name
405168989	CV3036495	single nucleotide variant	NM_005334.3(HCFC1):c.5565G>A (p.Glu1855=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638325]	likely benign	X	153950951	153950951	Human	1	name
405170594	CV3036959	single nucleotide variant	NM_005334.3(HCFC1):c.5748C>T (p.Thr1916=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638346]	likely benign	X	153950499	153950499	Human	1	name
405168974	CV3039670	single nucleotide variant	NM_005334.3(HCFC1):c.4419G>A (p.Thr1473=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638324]	benign	X	153953685	153953685	Human	1	name
405169217	CV3040104	single nucleotide variant	NM_005334.3(HCFC1):c.5088G>A (p.Gln1696=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638345]	likely benign	X	153952013	153952013	Human	1	name
405170112	CV3041370	single nucleotide variant	NM_005334.3(HCFC1):c.5553G>A (p.Leu1851=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638282]	likely benign	X	153950963	153950963	Human	1	name
405168521	CV3041374	single nucleotide variant	NM_005334.3(HCFC1):c.3252G>A (p.Glu1084=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638283]	likely benign	X	153955147	153955147	Human	1	name
405168869	CV3041858	single nucleotide variant	NM_005334.3(HCFC1):c.4545G>C (p.Pro1515=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638314]	likely benign	X	153952911	153952911	Human	1	name
405169366	CV3043006	single nucleotide variant	NM_005334.3(HCFC1):c.5532C>T (p.Thr1844=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638358]	likely benign	X	153950984	153950984	Human	1	name
405169843	CV3043646	single nucleotide variant	NM_005334.3(HCFC1):c.5955C>T (p.Ala1985=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638401]	likely benign	X	153950292	153950292	Human	1	name
405170353	CV3047893	single nucleotide variant	NM_005334.3(HCFC1):c.4134C>T (p.Pro1378=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638445]	benign	X	153954265	153954265	Human	1	name
405171110	CV3048802	single nucleotide variant	NM_005334.3(HCFC1):c.3336C>T (p.His1112=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638515]	likely benign	X	153955063	153955063	Human	1	name
405171126	CV3048956	single nucleotide variant	NM_005334.3(HCFC1):c.4593C>T (p.Ser1531=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638517]	likely benign	X	153952863	153952863	Human	1	name
405169518	CV3049700	single nucleotide variant	NM_005334.3(HCFC1):c.3798C>T (p.Pro1266=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638372]	likely benign	X	153954601	153954601	Human	1	name
405169600	CV3050022	single nucleotide variant	NM_005334.3(HCFC1):c.4755A>G (p.Leu1585=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638379]	likely benign	X	153952701	153952701	Human	1	name
405170013	CV3050679	single nucleotide variant	NM_005334.3(HCFC1):c.4983C>T (p.Thr1661=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638415]	benign	X	153952118	153952118	Human	1	name
405170539	CV3051712	single nucleotide variant	NM_005334.3(HCFC1):c.3912C>T (p.Thr1304=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638463]	likely benign	X	153954487	153954487	Human	1	name
405170865	CV3052067	single nucleotide variant	NM_005334.3(HCFC1):c.3519G>A (p.Ala1173=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638493]	benign	X	153954880	153954880	Human	1	name
405169448	CV3053005	single nucleotide variant	NM_005334.3(HCFC1):c.4110G>A (p.Ser1370=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638365]	likely benign	X	153954289	153954289	Human	1	name
405170386	CV3054739	single nucleotide variant	NM_005334.3(HCFC1):c.5619C>T (p.Gly1873=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638448]	benign	X	153950897	153950897	Human	1	name
405171057	CV3055615	single nucleotide variant	NM_005334.3(HCFC1):c.3144C>T (p.Phe1048=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638510]	benign	X	153955255	153955255	Human	1	name
405171234	CV3055987	single nucleotide variant	NM_005334.3(HCFC1):c.4404C>T (p.Ser1468=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638527]	benign	X	153953700	153953700	Human	1	name
405174007	CV3057252	single nucleotide variant	NM_005334.3(HCFC1):c.5487C>T (p.Phe1829=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638595]	likely benign	X	153951380	153951380	Human	1	name
405177736	CV3059007	single nucleotide variant	NM_005334.3(HCFC1):c.4425C>T (p.Thr1475=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639138]	benign	X	153953679	153953679	Human	1	name
405172186	CV3060271	single nucleotide variant	NM_005334.3(HCFC1):c.3201G>A (p.Gln1067=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638588]	likely benign	X	153955198	153955198	Human	1	name
405175655	CV3061491	single nucleotide variant	NM_005334.3(HCFC1):c.4596C>T (p.Ala1532=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639078]	benign	X	153952860	153952860	Human	1	name
405176629	CV3062012	single nucleotide variant	NM_005334.3(HCFC1):c.5403C>A (p.Pro1801=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639122]	likely benign	X	153951464	153951464	Human	1	name
405176243	CV3062133	single nucleotide variant	NM_005334.3(HCFC1):c.4098C>A (p.Gly1366=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639127]	likely benign	X	153954301	153954301	Human	1	name
405172103	CV3063708	single nucleotide variant	NM_005334.3(HCFC1):c.5802T>C (p.Ala1934=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638581]	likely benign	X	153950445	153950445	Human	1	name
405172162	CV3063869	single nucleotide variant	NM_005334.3(HCFC1):c.3186G>A (p.Ser1062=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638586]	likely benign	X	153955213	153955213	Human	1	name
405173335	CV3064202	single nucleotide variant	NM_005334.3(HCFC1):c.4812A>G (p.Val1604=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638609]	likely benign	X	153952644	153952644	Human	1	name
405175580	CV3064601	single nucleotide variant	NM_005334.3(HCFC1):c.4116C>T (p.Ser1372=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639071]	benign	X	153954283	153954283	Human	1	name
405175745	CV3064839	single nucleotide variant	NM_005334.3(HCFC1):c.4665A>G (p.Pro1555=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639087]	likely benign	X	153952791	153952791	Human	1	name
405176842	CV3065328	single nucleotide variant	NM_005334.3(HCFC1):c.4035C>T (p.Pro1345=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639116]	benign	X	153954364	153954364	Human	1	name
405176347	CV3065604	single nucleotide variant	NM_005334.3(HCFC1):c.5829G>A (p.Pro1943=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639149]	benign	X	153950418	153950418	Human	1	name
405177504	CV3068869	single nucleotide variant	NM_005334.3(HCFC1):c.3513C>T (p.Thr1171=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639108]	likely benign	X	153954886	153954886	Human	1	name
405176329	CV3069412	single nucleotide variant	NM_005334.3(HCFC1):c.4485C>T (p.Gly1495=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639147]	benign	X	153953619	153953619	Human	1	name
405177099	CV3070815	single nucleotide variant	NM_005334.3(HCFC1):c.3147C>T (p.Val1049=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639228]	likely benign	X	153955252	153955252	Human	1	name
405177120	CV3070968	single nucleotide variant	NM_005334.3(HCFC1):c.3240C>T (p.Cys1080=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639231]	benign	X	153955159	153955159	Human	1	name
405177379	CV3071276	single nucleotide variant	NM_005334.3(HCFC1):c.4671G>A (p.Ser1557=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639257]	benign	X	153952785	153952785	Human	1	name
405177999	CV3072265	single nucleotide variant	NM_005334.3(HCFC1):c.5967G>A (p.Lys1989=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639324]	benign	X	153950280	153950280	Human	1	name
405178219	CV3072285	single nucleotide variant	NM_005334.3(HCFC1):c.3375G>A (p.Ser1125=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639345]	likely benign	X	153955024	153955024	Human	1	name
405176734	CV3073052	single nucleotide variant	NM_005334.3(HCFC1):c.5397C>G (p.Pro1799=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639191]	likely benign	X	153951470	153951470	Human	1	name
405177009	CV3073384	single nucleotide variant	NM_005334.3(HCFC1):c.3435C>T (p.Ala1145=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639219]	likely benign	X	153954964	153954964	Human	1	name
405177020	CV3073476	single nucleotide variant	NM_005334.3(HCFC1):c.4620C>A (p.Thr1540=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639220]	likely benign	X	153952836	153952836	Human	1	name
405178968	CV3077168	single nucleotide variant	NM_005334.3(HCFC1):c.4353C>T (p.Ser1451=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639309]	benign	X	153953751	153953751	Human	1	name
405176660	CV3078241	single nucleotide variant	NM_005334.3(HCFC1):c.5724C>T (p.Leu1908=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639183]	benign	X	153950523	153950523	Human	1	name
405176893	CV3078888	single nucleotide variant	NM_005334.3(HCFC1):c.4686C>T (p.Ala1562=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639207]	benign	X	153952770	153952770	Human	1	name
405177413	CV3079376	single nucleotide variant	NM_005334.3(HCFC1):c.4215C>T (p.Thr1405=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639261]	likely benign	X	153954184	153954184	Human	1	name
405177798	CV3080053	single nucleotide variant	NM_005334.3(HCFC1):c.3192G>T (p.Val1064=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003639302]	benign	X	153955207	153955207	Human	1	name
405114799	CV3115400	single nucleotide variant	NM_005334.3(HCFC1):c.3516C>T (p.Ser1172=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003814082]	likely benign	X	153954883	153954883	Human	1	name
405095228	CV3119034	single nucleotide variant	NM_005334.3(HCFC1):c.4740C>G (p.Ser1580=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003811485]	likely benign	X	153952716	153952716	Human	1	name
405181967	CV3119949	single nucleotide variant	NM_005334.3(HCFC1):c.3327C>T (p.Cys1109=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003820042]	benign	X	153955072	153955072	Human	1	name
405104064	CV3120078	single nucleotide variant	NM_005334.3(HCFC1):c.4482G>A (p.Pro1494=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003812148]	likely benign	X	153953622	153953622	Human	1	name
404999538	CV3120182	single nucleotide variant	NM_005334.3(HCFC1):c.5130C>T (p.His1710=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003827972]	likely benign	X	153951971	153951971	Human	1	name
405088479	CV3122235	single nucleotide variant	NM_005334.3(HCFC1):c.5868C>T (p.Ser1956=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003810990]	benign	X	153950379	153950379	Human	1	name
405091679	CV3122646	single nucleotide variant	NM_005334.3(HCFC1):c.4521G>C (p.Ser1507=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003811211]	likely benign	X	153952935	153952935	Human	1	name
404977020	CV3123736	single nucleotide variant	NM_005334.3(HCFC1):c.3891C>T (p.His1297=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003825162]	benign	X	153954508	153954508	Human	1	name
405165955	CV3125319	single nucleotide variant	NM_005334.3(HCFC1):c.5346C>G (p.Thr1782=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003818591]	likely benign	X	153951622	153951622	Human	1	name
405142817	CV3125926	single nucleotide variant	NM_005334.3(HCFC1):c.4521G>T (p.Ser1507=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003816842]	likely benign	X	153952935	153952935	Human	1	name
405123584	CV3126376	single nucleotide variant	NM_005334.3(HCFC1):c.4629C>T (p.Leu1543=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003815128]	benign	X	153952827	153952827	Human	1	name
404977634	CV3127242	single nucleotide variant	NM_005334.3(HCFC1):c.5682T>G (p.Pro1894=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003825465]	likely benign	X	153950834	153950834	Human	1	name
405011243	CV3128070	single nucleotide variant	NM_005334.3(HCFC1):c.3717C>T (p.Thr1239=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003828950]	benign	X	153954682	153954682	Human	1	name
405060742	CV3129524	single nucleotide variant	NM_005334.3(HCFC1):c.4212C>T (p.Gly1404=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003832793]	benign	X	153954187	153954187	Human	1	name
405032137	CV3130296	single nucleotide variant	NM_005334.3(HCFC1):c.3084G>A (p.Thr1028=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003830703]	likely benign	X	153955315	153955315	Human	1	name
405120170	CV3131453	single nucleotide variant	NM_005334.3(HCFC1):c.4950C>T (p.Gly1650=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003837317]	likely benign	X	153952151	153952151	Human	1	name
405087077	CV3134004	single nucleotide variant	NM_005334.3(HCFC1):c.4635C>T (p.Ala1545=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003834542]	likely benign	X	153952821	153952821	Human	1	name
404987094	CV3135516	single nucleotide variant	NM_005334.3(HCFC1):c.3795G>A (p.Ser1265=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003826811]	benign	X	153954604	153954604	Human	1	name
405108641	CV3136703	single nucleotide variant	NM_005334.3(HCFC1):c.4695G>A (p.Ala1565=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003835857]	likely benign	X	153952761	153952761	Human	1	name
405185621	CV3138696	single nucleotide variant	NM_005334.3(HCFC1):c.3639T>G (p.Pro1213=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003842908]	likely benign	X	153954760	153954760	Human	1	name
405226613	CV3142553	single nucleotide variant	NM_005334.3(HCFC1):c.5460C>T (p.Gly1820=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003848092]	likely benign	X	153951407	153951407	Human	1	name
405202677	CV3143682	single nucleotide variant	NM_005334.3(HCFC1):c.4338C>T (p.Pro1446=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003844668]	benign	X	153953766	153953766	Human	1	name
405231236	CV3144473	single nucleotide variant	NM_005334.3(HCFC1):c.5931C>T (p.Pro1977=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003852926]	likely benign	X	153950316	153950316	Human	1	name
405137787	CV3144738	single nucleotide variant	NM_005334.3(HCFC1):c.4458C>T (p.Thr1486=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003855255]	likely benign	X	153953646	153953646	Human	1	name
405232724	CV3144933	single nucleotide variant	NM_005334.3(HCFC1):c.5277C>T (p.Asn1759=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003853190]	likely benign	X	153951691	153951691	Human	1	name
405101412	CV3148033	single nucleotide variant	NM_005334.3(HCFC1):c.5235G>A (p.Ala1745=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003852663]	likely benign	X	153951866	153951866	Human	1	name
405190939	CV3149699	single nucleotide variant	NM_005334.3(HCFC1):c.5454T>C (p.Ile1818=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003843425]	likely benign	X	153951413	153951413	Human	1	name
405192759	CV3149800	single nucleotide variant	NM_005334.3(HCFC1):c.4470C>T (p.Ser1490=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003843526]	benign	X	153953634	153953634	Human	1	name
405054355	CV3151399	single nucleotide variant	NM_005334.3(HCFC1):c.5829G>C (p.Pro1943=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003849808]	likely benign	X	153950418	153950418	Human	1	name
405149865	CV3152159	single nucleotide variant	NM_005334.3(HCFC1):c.4413C>T (p.Ala1471=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003856130]	likely benign	X	153953691	153953691	Human	1	name
405139236	CV3155141	single nucleotide variant	NM_005334.3(HCFC1):c.4281G>A (p.Thr1427=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003855379]	likely benign	X	153954118	153954118	Human	1	name
405078728	CV3156362	single nucleotide variant	NM_005334.3(HCFC1):c.6096C>T (p.Ala2032=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003851420]	benign	X	153949359	153949359	Human	1	name
405247846	CV3159144	single nucleotide variant	NM_005334.3(HCFC1):c.5037C>T (p.Ala1679=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003869289]	benign	X	153952064	153952064	Human	1	name
405216667	CV3160870	single nucleotide variant	NM_005334.3(HCFC1):c.4098C>T (p.Gly1366=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003862932]	likely benign	X	153954301	153954301	Human	1	name
405217373	CV3160964	single nucleotide variant	NM_005334.3(HCFC1):c.5013G>A (p.Ser1671=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003863026]	likely benign	X	153952088	153952088	Human	1	name
405209918	CV3162647	single nucleotide variant	NM_005334.3(HCFC1):c.3879A>G (p.Pro1293=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003861946]	likely benign	X	153954520	153954520	Human	1	name
405209811	CV3162669	single nucleotide variant	NM_005334.3(HCFC1):c.3708G>A (p.Ala1236=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003861968]	benign	X	153954691	153954691	Human	1	name
405240226	CV3166124	single nucleotide variant	NM_005334.3(HCFC1):c.4611C>T (p.Ala1537=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003867136]	likely benign	X	153952845	153952845	Human	1	name
405229306	CV3166197	single nucleotide variant	NM_005334.3(HCFC1):c.5550G>A (p.Gln1850=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003864953]	benign	X	153950966	153950966	Human	1	name
405235216	CV3168599	single nucleotide variant	NM_005334.3(HCFC1):c.3384C>T (p.Gly1128=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003866073]	likely benign	X	153955015	153955015	Human	1	name
405227381	CV3169396	single nucleotide variant	NM_005334.3(HCFC1):c.5196C>T (p.Cys1732=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003864420]	likely benign	X	153951905	153951905	Human	1	name
405249516	CV3170105	single nucleotide variant	NM_005334.3(HCFC1):c.5184T>A (p.Ile1728=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003869734]	likely benign	X	153951917	153951917	Human	1	name
402481716	CV3170833	single nucleotide variant	NM_005334.3(HCFC1):c.4200C>T (p.Thr1400=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003876036]	likely benign	X	153954199	153954199	Human	1	name
402470209	CV3171091	single nucleotide variant	NM_005334.3(HCFC1):c.3888C>T (p.Thr1296=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003874054]	likely benign	X	153954511	153954511	Human	1	name
402471458	CV3171569	single nucleotide variant	NM_005334.3(HCFC1):c.4965C>T (p.Thr1655=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003874353]	likely benign	X	153952136	153952136	Human	1	name
402477145	CV3173922	single nucleotide variant	NM_005334.3(HCFC1):c.4540C>T (p.Leu1514=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003875460]	likely benign	X	153952916	153952916	Human	1	name
405254255	CV3175058	single nucleotide variant	NM_005334.3(HCFC1):c.3921C>T (p.Thr1307=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003871510]	likely benign	X	153954478	153954478	Human	1	name
405254952	CV3175534	single nucleotide variant	NM_005334.3(HCFC1):c.3594A>G (p.Ala1198=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003871801]	likely benign	X	153954805	153954805	Human	1	name
402466584	CV3177726	single nucleotide variant	NM_005334.3(HCFC1):c.3738C>T (p.Ser1246=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003873164]	likely benign	X	153954661	153954661	Human	1	name
405252341	CV3177917	single nucleotide variant	NM_005334.3(HCFC1):c.4659G>A (p.Gly1553=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003870697]	benign	X	153952797	153952797	Human	1	name
402513585	CV3178738	single nucleotide variant	NM_005334.3(HCFC1):c.6090T>C (p.Ser2030=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003879171]	likely benign	X	153949365	153949365	Human	1	name
402517123	CV3179023	single nucleotide variant	NM_005334.3(HCFC1):c.4437A>G (p.Thr1479=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003879456]	benign	X	153953667	153953667	Human	1	name
402495853	CV3179176	single nucleotide variant	NM_005334.3(HCFC1):c.3708G>T (p.Ala1236=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003877443]	likely benign	X	153954691	153954691	Human	1	name
402496101	CV3179200	single nucleotide variant	NM_005334.3(HCFC1):c.4386C>T (p.Asp1462=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003877467]	likely benign	X	153953718	153953718	Human	1	name
404983573	CV3180023	single nucleotide variant	NM_005334.3(HCFC1):c.4572C>T (p.Ser1524=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003880825]	likely benign	X	153952884	153952884	Human	1	name
405228878	CV3180447	single nucleotide variant	NM_005334.3(HCFC1):c.5985A>G (p.Thr1995=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003864868]	likely benign	X	153950262	153950262	Human	1	name
402501863	CV3181030	single nucleotide variant	NM_005334.3(HCFC1):c.5655G>A (p.Thr1885=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003878047]	benign	X	153950861	153950861	Human	1	name
405789874	CV3266324	single nucleotide variant	NM_005334.3(HCFC1):c.505T>C (p.Tyr169His)	Inborn genetic diseases [RCV004399334]	uncertain significance	X	153963432	153963432	Human	1	name
407428179	CV3410112	single nucleotide variant	NM_005334.3(HCFC1):c.4335C>T (p.Asp1445=)	not specified [RCV004587720]	uncertain significance	X	153953769	153953769	Human		name
408384426	CV3505166	single nucleotide variant	NM_005334.3(HCFC1):c.556G>A (p.Ala186Thr)	HCFC1-related disorder [RCV004731747]	uncertain significance	X	153963381	153963381	Human		name , trait , alternate_id
408394045	CV3521693	single nucleotide variant	NM_005334.3(HCFC1):c.481G>A (p.Asp161Asn)	Methylmalonic acidemia with homocystinuria, type cblX [RCV004764492]	uncertain significance	X	153964146	153964146	Human	1	name
408392607	CV3525297	single nucleotide variant	NM_005334.3(HCFC1):c.524T>C (p.Ile175Thr)	not provided [RCV004771183]	uncertain significance	X	153963413	153963413	Human		name
597632183	CV3552796	single nucleotide variant	NM_005334.3(HCFC1):c.350G>A (p.Arg117Gln)	not provided [RCV004823624]	uncertain significance	X	153964277	153964277	Human		name
597663000	CV3682339	single nucleotide variant	NM_005334.3(HCFC1):c.539C>T (p.Pro180Leu)	Inborn genetic diseases [RCV004977885]	uncertain significance	X	153963398	153963398	Human	1	name
597656576	CV3729674	single nucleotide variant	NM_005334.3(HCFC1):c.3021C>T (p.Gly1007=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005041707]	uncertain significance	X	153955378	153955378	Human	1	name
597933933	CV3750368	single nucleotide variant	NM_005334.3(HCFC1):c.4233C>T (p.Phe1411=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005076293]	likely benign	X	153954166	153954166	Human	1	name
597858514	CV3755848	single nucleotide variant	NM_005334.3(HCFC1):c.3945G>A (p.Arg1315=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005088999]	likely benign	X	153954454	153954454	Human	1	name
597941886	CV3757505	single nucleotide variant	NM_005334.3(HCFC1):c.3837G>A (p.Leu1279=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005077691]	likely benign	X	153954562	153954562	Human	1	name
597851622	CV3761895	single nucleotide variant	NM_005334.3(HCFC1):c.5394G>A (p.Pro1798=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005087992]	likely benign	X	153951473	153951473	Human	1	name
597874175	CV3766030	single nucleotide variant	NM_005334.3(HCFC1):c.3090C>T (p.Thr1030=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005108161]	likely benign	X	153955309	153955309	Human	1	name
597875284	CV3766157	single nucleotide variant	NM_005334.3(HCFC1):c.3888C>G (p.Thr1296=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005108289]	likely benign	X	153954511	153954511	Human	1	name
597950273	CV3768619	single nucleotide variant	NM_005334.3(HCFC1):c.3120C>T (p.His1040=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005120805]	likely benign	X	153955279	153955279	Human	1	name
597873363	CV3768884	single nucleotide variant	NM_005334.3(HCFC1):c.5340C>T (p.Thr1780=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005123054]	likely benign	X	153951628	153951628	Human	1	name
597940209	CV3772723	single nucleotide variant	NM_005334.3(HCFC1):c.5389C>T (p.Leu1797=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005118353]	likely benign	X	153951478	153951478	Human	1	name
597944852	CV3776712	single nucleotide variant	NM_005334.3(HCFC1):c.5271A>G (p.Pro1757=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005119568]	likely benign	X	153951697	153951697	Human	1	name
12836261	CV379020	single nucleotide variant	NM_005334.3(HCFC1):c.4068C>T (p.Pro1356=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001088878]\|not provided [RCV000969389]\|not specified [RCV000423087]	benign\|likely benign	X	153954331	153954331	Human	1	name
12835470	CV379963	single nucleotide variant	NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV000973917]\|not provided [RCV001702654]\|not specified [RCV000421721]	benign\|likely benign	X	153952731	153952731	Human	1	name
12833204	CV379964	single nucleotide variant	NM_005334.3(HCFC1):c.4464G>A (p.Thr1488=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV000948164]\|not provided [RCV004713956]\|not specified [RCV000418071]	benign	X	153953640	153953640	Human	1	name
12846877	CV379965	single nucleotide variant	NM_005334.3(HCFC1):c.3903C>T (p.Thr1301=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002059772]\|not provided [RCV003437193]\|not specified [RCV000442489]	likely benign	X	153954496	153954496	Human	1	name
12836726	CV379967	single nucleotide variant	NM_005334.3(HCFC1):c.3255G>A (p.Thr1085=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522974]\|not specified [RCV000423908]	likely benign	X	153955144	153955144	Human	1	name
597893364	CV3809909	single nucleotide variant	NM_005334.3(HCFC1):c.5190C>T (p.Ser1730=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005151630]	likely benign	X	153951911	153951911	Human	1	name
597859570	CV3817165	single nucleotide variant	NM_005334.3(HCFC1):c.5364C>T (p.Ile1788=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005146546]	likely benign	X	153951604	153951604	Human	1	name
597948396	CV3818304	single nucleotide variant	NM_005334.3(HCFC1):c.5175C>T (p.Asp1725=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005160565]	likely benign	X	153951926	153951926	Human	1	name
597926816	CV3819771	single nucleotide variant	NM_005334.3(HCFC1):c.5535C>A (p.Val1845=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005156471]	likely benign	X	153950981	153950981	Human	1	name
597914858	CV3833984	single nucleotide variant	NM_005334.3(HCFC1):c.3210C>T (p.Ser1070=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005183343]	likely benign	X	153955189	153955189	Human	1	name
597865585	CV3834330	single nucleotide variant	NM_005334.3(HCFC1):c.3699C>T (p.His1233=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005175698]	likely benign	X	153954700	153954700	Human	1	name
597886773	CV3842394	single nucleotide variant	NM_005334.3(HCFC1):c.805G>A (p.Val269Met)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005179029]	uncertain significance	X	153961641	153961641	Human	1	name
597906670	CV3842884	single nucleotide variant	NM_005334.3(HCFC1):c.5685T>C (p.Cys1895=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005182191]	benign	X	153950831	153950831	Human	1	name
597953628	CV3844037	single nucleotide variant	NM_005334.3(HCFC1):c.3453G>A (p.Val1151=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005190899]	likely benign	X	153954946	153954946	Human	1	name
597936486	CV3852201	single nucleotide variant	NM_005334.3(HCFC1):c.5211C>T (p.Ala1737=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005186798]	likely benign	X	153951890	153951890	Human	1	name
597927438	CV3855507	single nucleotide variant	NM_005334.3(HCFC1):c.4968C>T (p.Ser1656=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV005206106]	likely benign	X	153952133	153952133	Human	1	name
598159608	CV3897123	single nucleotide variant	NM_005334.3(HCFC1):c.628G>A (p.Glu210Lys)	not provided [RCV005368097]	uncertain significance	X	153963309	153963309	Human		name
617150120	CV4017176	single nucleotide variant	NM_005334.3(HCFC1):c.637A>G (p.Asn213Asp)	not provided [RCV005416833]	uncertain significance	X	153963300	153963300	Human		name
617154051	CV4022214	single nucleotide variant	NM_005334.3(HCFC1):c.391G>A (p.Gly131Arg)	not provided [RCV005429570]	uncertain significance	X	153964236	153964236	Human		name
13509428	CV424365	single nucleotide variant	NM_005334.3(HCFC1):c.4086C>T (p.Thr1362=)	Kabuki syndrome 1 [RCV000578143]	uncertain significance	X	153954313	153954313	Human	1	name
13212994	CV430699	single nucleotide variant	NM_005334.3(HCFC1):c.4722A>C (p.Pro1574=)	not specified [RCV000499415]	uncertain significance	X	153952734	153952734	Human		name
13216600	CV430701	single nucleotide variant	NM_005334.3(HCFC1):c.3846G>A (p.Ser1282=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001399716]\|not specified [RCV000503750]	likely benign\|uncertain significance	X	153954553	153954553	Human	1	name
13214048	CV430702	single nucleotide variant	NM_005334.3(HCFC1):c.3465G>A (p.Ala1155=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522982]\|not specified [RCV000500679]	likely benign	X	153954934	153954934	Human	1	name
13216624	CV430703	single nucleotide variant	NM_005334.3(HCFC1):c.3270C>T (p.Thr1090=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522983]\|not specified [RCV000503991]	benign\|likely benign	X	153955129	153955129	Human	1	name
13445948	CV438471	single nucleotide variant	NM_005334.3(HCFC1):c.4947C>T (p.Thr1649=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002060179]	likely benign\|uncertain significance	X	153952154	153952154	Human	1	name
8570597	CV48294	single nucleotide variant	NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn)	Methylmalonic acidemia with homocystinuria, type cblX [RCV000032897]\|not provided [RCV000059786]	pathogenic\|not provided	X	153963263	153963263	Human	1	name
13540237	CV507833	single nucleotide variant	NM_005334.3(HCFC1):c.5949C>T (p.Ile1983=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638692]\|not specified [RCV000614416]	benign\|likely benign	X	153950298	153950298	Human	1	name
13540726	CV507849	single nucleotide variant	NM_005334.3(HCFC1):c.4911G>A (p.Ala1637=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522993]\|not specified [RCV000615116]	likely benign	X	153952545	153952545	Human	1	name
13538894	CV507934	single nucleotide variant	NM_005334.3(HCFC1):c.5958C>T (p.Arg1986=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV000904711]\|not specified [RCV000612508]	benign\|likely benign	X	153950289	153950289	Human	1	name
13539790	CV507939	single nucleotide variant	NM_005334.3(HCFC1):c.5601C>T (p.Ala1867=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV000638560]\|not provided [RCV004714090]\|not specified [RCV000613758]	benign	X	153950915	153950915	Human	1	name
13541503	CV507947	single nucleotide variant	NM_005334.3(HCFC1):c.4218G>A (p.Ala1406=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522992]\|not specified [RCV000616246]	likely benign	X	153954181	153954181	Human	1	name
13540011	CV507952	single nucleotide variant	NM_005334.3(HCFC1):c.4089T>C (p.Thr1363=)	not specified [RCV000614098]	likely benign	X	153954310	153954310	Human		name
13534705	CV507954	single nucleotide variant	NM_005334.3(HCFC1):c.4041T>G (p.Gly1347=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638685]\|not specified [RCV000607410]	likely benign	X	153954358	153954358	Human	1	name
13537393	CV507961	single nucleotide variant	NM_005334.3(HCFC1):c.3963A>G (p.Pro1321=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002066908]\|not provided [RCV002263834]\|not specified [RCV000610345]	benign\|likely benign	X	153954436	153954436	Human	1	name
13537680	CV507962	single nucleotide variant	NM_005334.3(HCFC1):c.3943A>C (p.Arg1315=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001468703]\|not specified [RCV000610738]	likely benign	X	153954456	153954456	Human	1	name
13540377	CV507963	single nucleotide variant	NM_005334.3(HCFC1):c.3615C>T (p.Ser1205=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV000907145]\|not specified [RCV000614618]	benign	X	153954784	153954784	Human	1	name
13541220	CV507965	single nucleotide variant	NM_005334.3(HCFC1):c.3117A>G (p.Gly1039=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001505393]\|not specified [RCV000615853]	likely benign	X	153955282	153955282	Human	1	name
13532586	CV508394	single nucleotide variant	NM_005334.3(HCFC1):c.4275C>T (p.His1425=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638690]\|not specified [RCV000606850]	benign\|likely benign	X	153954124	153954124	Human	1	name
13538487	CV508396	single nucleotide variant	NM_005334.3(HCFC1):c.3636C>T (p.Ala1212=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638688]\|not specified [RCV000611901]	likely benign	X	153954763	153954763	Human	1	name
13536335	CV508408	single nucleotide variant	NM_005334.3(HCFC1):c.380C>T (p.Thr127Met)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002064082]\|not specified [RCV000608858]	benign\|likely benign	X	153964247	153964247	Human	1	name
13536140	CV508546	single nucleotide variant	NM_005334.3(HCFC1):c.3585G>A (p.Pro1195=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003767614]\|not specified [RCV000608567]	likely benign	X	153954814	153954814	Human	1	name
13541606	CV508547	single nucleotide variant	NM_005334.3(HCFC1):c.3381C>T (p.Val1127=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV000909461]\|not specified [RCV000616391]	benign\|likely benign	X	153955018	153955018	Human	1	name
13525562	CV508550	single nucleotide variant	NM_005334.3(HCFC1):c.3342G>A (p.Thr1114=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003767679]\|not specified [RCV000603271]	likely benign	X	153955057	153955057	Human	1	name
14394194	CV610200	single nucleotide variant	NM_005334.3(HCFC1):c.3990C>T (p.Thr1330=)	not provided [RCV000757369]	likely benign	X	153954409	153954409	Human		name
14730010	CV649805	single nucleotide variant	NM_005334.3(HCFC1):c.4815G>A (p.Thr1605=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV000817195]	likely benign\|uncertain significance	X	153952641	153952641	Human	1	name
14739912	CV656743	single nucleotide variant	NM_005334.3(HCFC1):c.3975C>T (p.His1325=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003638714]\|not provided [RCV000840109]	likely benign	X	153954424	153954424	Human	1	name
14743998	CV656744	single nucleotide variant	NM_005334.3(HCFC1):c.3231C>T (p.Asn1077=)	not provided [RCV000842461]	likely benign	X	153955168	153955168	Human		name
15165068	CV729498	single nucleotide variant	NM_005334.3(HCFC1):c.5490G>A (p.Leu1830=)	HCFC1-related disorder [RCV003940447]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV000882333]\|not specified [RCV001817079]	benign	X	153951377	153951377	Human	1	name , alternate_id
15157424	CV729500	single nucleotide variant	NM_005334.3(HCFC1):c.4245G>A (p.Arg1415=)	HCFC1-related disorder [RCV003920519]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV000880816]	likely benign	X	153954154	153954154	Human	1	name , alternate_id
15114765	CV743222	single nucleotide variant	NM_005334.3(HCFC1):c.5613C>T (p.Ala1871=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523031]	likely benign	X	153950903	153950903	Human	1	name
15151623	CV743223	single nucleotide variant	NM_005334.3(HCFC1):c.4296G>A (p.Thr1432=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV000901402]	benign	X	153954103	153954103	Human	1	name
15161511	CV743224	single nucleotide variant	NM_005334.3(HCFC1):c.4263C>A (p.Pro1421=)	HCFC1-related disorder [RCV003958177]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV000903361]	likely benign	X	153954136	153954136	Human	1	name , alternate_id
15135703	CV743225	single nucleotide variant	NM_005334.3(HCFC1):c.4158C>T (p.Thr1386=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002065655]	likely benign	X	153954241	153954241	Human	1	name
15178751	CV743226	single nucleotide variant	NM_005334.3(HCFC1):c.4026G>A (p.Thr1342=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523036]\|not provided [RCV000906947]	benign\|likely benign	X	153954373	153954373	Human	1	name
15152667	CV743227	single nucleotide variant	NM_005334.3(HCFC1):c.3930A>T (p.Ala1310=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002537547]	benign	X	153954469	153954469	Human	1	name
15150841	CV743228	single nucleotide variant	NM_005334.3(HCFC1):c.3579T>C (p.Leu1193=)	not provided [RCV000901239]	likely benign	X	153954820	153954820	Human		name
15198851	CV758366	single nucleotide variant	NM_005334.3(HCFC1):c.5784C>T (p.Ala1928=)	not provided [RCV000912374]	likely benign	X	153950463	153950463	Human		name
15202384	CV758367	single nucleotide variant	NM_005334.3(HCFC1):c.5397C>A (p.Pro1799=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV000913412]\|not provided [RCV001171653]	likely benign	X	153951470	153951470	Human	1	name
15102325	CV758368	single nucleotide variant	NM_005334.3(HCFC1):c.4773A>G (p.Leu1591=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV000914947]	likely benign	X	153952683	153952683	Human	1	name
15170364	CV758369	single nucleotide variant	NM_005334.3(HCFC1):c.4125C>T (p.Ala1375=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002541558]	likely benign	X	153954274	153954274	Human	1	name
15139531	CV758370	single nucleotide variant	NM_005334.3(HCFC1):c.3459T>C (p.Thr1153=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV000921522]	likely benign	X	153954940	153954940	Human	1	name
15112996	CV758371	single nucleotide variant	NM_005334.3(HCFC1):c.3180G>T (p.Val1060=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523039]	likely benign	X	153955219	153955219	Human	1	name
15149292	CV773878	single nucleotide variant	NM_005334.3(HCFC1):c.4266T>C (p.Cys1422=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV000945280]	likely benign	X	153954133	153954133	Human	1	name
15149298	CV773879	single nucleotide variant	NM_005334.3(HCFC1):c.4260C>G (p.Pro1420=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV000945281]	likely benign	X	153954139	153954139	Human	1	name
15119490	CV773880	single nucleotide variant	NM_005334.3(HCFC1):c.3951C>T (p.Cys1317=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001490600]	likely benign	X	153954448	153954448	Human	1	name
15180938	CV773881	single nucleotide variant	NM_005334.3(HCFC1):c.3279C>T (p.Thr1093=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002544417]	likely benign	X	153955120	153955120	Human	1	name
15145875	CV773882	single nucleotide variant	NM_005334.3(HCFC1):c.3228G>A (p.Ser1076=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001513990]	benign	X	153955171	153955171	Human	1	name
8573571	CV77869	single nucleotide variant	NM_005334.3(HCFC1):c.344C>T (p.Ala115Val)	Disorders of Intracellular Cobalamin Metabolism [RCV002513743]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV000057506]	pathogenic\|not provided	X	153964283	153964283	Human	2	name
15103705	CV786744	single nucleotide variant	NM_005334.3(HCFC1):c.5769C>T (p.Tyr1923=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV003523051]	likely benign	X	153950478	153950478	Human	1	name
21075218	CV798211	single nucleotide variant	NM_005334.3(HCFC1):c.979G>A (p.Ala327Thr)	not provided [RCV000996057]	uncertain significance	X	153960340	153960340	Human		name
38468866	CV921002	single nucleotide variant	NM_005334.3(HCFC1):c.3249C>T (p.His1083=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001396427]\|not provided [RCV001200552]	likely benign	X	153955150	153955150	Human	1	name
40814479	CV969426	single nucleotide variant	NM_005334.3(HCFC1):c.958C>T (p.Arg320Cys)	Intellectual disability [RCV001260715]	uncertain significance	X	153960361	153960361	Human	2	name
40887416	CV974333	single nucleotide variant	NM_005334.3(HCFC1):c.748G>A (p.Val250Met)	Inborn genetic diseases [RCV001266994]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV002537694]	likely benign\|uncertain significance	X	153962271	153962271	Human	2	name
40886539	CV974334	single nucleotide variant	NM_005334.3(HCFC1):c.722C>T (p.Thr241Met)	Inborn genetic diseases [RCV001265667]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV001880094]\|not provided [RCV002261329]	benign\|uncertain significance	X	153962297	153962297	Human	2	name
8659711	CV134666	single nucleotide variant	NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr)	HCFC1-related disorder [RCV003952568]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV001520721]\|not provided [RCV000117215]\|not specified [RCV000599889]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	153955109	153955109	Human	1	alternate_id
10050277	CV191682	single nucleotide variant	NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr)	HCFC1-related disorder [RCV003955032]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV000602586]\|not provided [RCV001706122]\|not specified [RCV000174905]	benign\|likely benign	X	153956670	153956670	Human	1	alternate_id
10403724	CV208940	single nucleotide variant	NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala)	HCFC1-related disorder [RCV003955154]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV000969004]\|not provided [RCV001573815]\|not specified [RCV000193244]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	153955527	153955527	Human	1	alternate_id
243052777	CV2412886	single nucleotide variant	NM_005334.3(HCFC1):c.4475C>T (p.Pro1492Leu)	HCFC1-related disorder [RCV003396904]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV003131102]	uncertain significance	X	153953629	153953629	Human	1	alternate_id
401903024	CV2797637	single nucleotide variant	NM_005334.3(HCFC1):c.5113G>A (p.Ala1705Thr)	HCFC1-related disorder [RCV003419150]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV003638953]	benign\|uncertain significance	X	153951988	153951988	Human	1	alternate_id
408366452	CV3508539	single nucleotide variant	NM_005334.3(HCFC1):c.2324C>T (p.Ser775Leu)	HCFC1-related disorder [RCV004756627]	uncertain significance	X	153957343	153957343	Human		trait , alternate_id
408366355	CV3508975	single nucleotide variant	NM_005334.3(HCFC1):c.3019G>A (p.Gly1007Ser)	HCFC1-related disorder [RCV004756642]	uncertain significance	X	153955380	153955380	Human		trait , alternate_id
12849157	CV363640	single nucleotide variant	NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile)	HCFC1-related disorder [RCV003950332]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV001079029]\|not provided [RCV000424988]	benign\|likely benign	X	153951449	153951449	Human	1	alternate_id
12850219	CV364204	single nucleotide variant	NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met)	HCFC1-related disorder [RCV003972567]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV001079896]\|not provided [RCV000443342]\|not specified [RCV000614054]	benign\|likely benign	X	153954240	153954240	Human	1	alternate_id
12841015	CV379012	single nucleotide variant	NM_005334.3(HCFC1):c.4626G>A (p.Glu1542=)	HCFC1-related disorder [RCV003942400]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV000883327]\|not specified [RCV000431822]	benign\|likely benign	X	153952830	153952830	Human	1	alternate_id
12845611	CV379014	single nucleotide variant	NM_005334.3(HCFC1):c.4442C>T (p.Thr1481Met)	HCFC1-related disorder [RCV003959904]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV000638565]\|not provided [RCV001702453]\|not specified [RCV000440143]	benign\|likely benign	X	153953662	153953662	Human	1	alternate_id
12905485	CV413849	single nucleotide variant	NM_005334.3(HCFC1):c.2626G>A (p.Gly876Ser)	HCFC1-related disorder [RCV003902740]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV001247405]\|not provided [RCV000487553]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	153956634	153956634	Human	1	alternate_id
13533039	CV507840	single nucleotide variant	NM_005334.3(HCFC1):c.5276A>G (p.Asn1759Ser)	HCFC1-related disorder [RCV003945537]\|Inborn genetic diseases [RCV002528711]\|Methylmalonic acidemia with homocystinuria, type cblX [RCV000892959]\|not specified [RCV000606981]	benign\|likely benign	X	153951692	153951692	Human	2	alternate_id
598122819	CV3889969	single nucleotide variant	NM_005334.3(HCFC1):c.4094C>T (p.Thr1365Ile)	HCFC1-related disorders [RCV005250488]	likely pathogenic	X	153954305	153954305	Human		trait
405055680	CV2888425	insertion	NM_005334.3(HCFC1):c.2857-13_2857-12insTCA	Methylmalonic acidemia with homocystinuria, type cblX [RCV003522524]	likely benign	X	153955554	153955555	Human	1	name
401912748	CV2829973	indel	NM_005334.3(HCFC1):c.2636-5_2723delinsACCTT	not provided [RCV003441187]	uncertain significance	X	153956324	153956416	Human		name
405789882	CV3266326	single nucleotide variant	NM_017885.4(HCFC1R1):c.44C>T (p.Ala15Val)	not specified [RCV004399336]	uncertain significance	16	3023898	3023898	Human		name
12846557	CV377886	single nucleotide variant	NM_005334.3(HCFC1):c.5298G>A (p.Pro1766=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV001078679]\|not provided [RCV000960626]\|not specified [RCV000441870]	benign\|likely benign	X	153951670	153951670	Human	1	name
12844747	CV379106	single nucleotide variant	NM_005334.3(HCFC1):c.5751C>T (p.Ser1917=)	Methylmalonic acidemia with homocystinuria, type cblX [RCV002058990]\|not specified [RCV000438543]	benign\|likely benign	X	153950496	153950496	Human	1	name
598246647	CV3971565	single nucleotide variant	NM_017885.4(HCFC1R1):c.47A>T (p.Gln16Leu)	not specified [RCV005345185]	uncertain significance	16	3023895	3023895	Human		name

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