ClinVar for MedGen (Select 82895) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24389831.	NM_001243177.4(ALDOA):c.1010A>G (p.Asn337Ser) GRCh37: Chr16:30081199 GRCh38: Chr16:30069878	LOC112694756, ALDOA	N283S, N337S	HNSHA due to aldolase A deficiency	Uncertain significance (Feb 10, 2021)	criteria provided, single submitter
Select item 24389822.	NM_001243177.4(ALDOA):c.1085C>T (p.Ala362Val) GRCh37: Chr16:30081274 GRCh38: Chr16:30069953	LOC112694756, ALDOA	A308V, A362V	HNSHA due to aldolase A deficiency	Uncertain significance (May 3, 2021)	criteria provided, single submitter
Select item 24389813.	NM_001243177.4(ALDOA):c.1114A>G (p.Lys372Glu) GRCh37: Chr16:30081303 GRCh38: Chr16:30069982	LOC112694756, ALDOA	K318E, K372E	HNSHA due to aldolase A deficiency	Uncertain significance (Sep 8, 2022)	criteria provided, single submitter
Select item 24389804.	NM_001243177.4(ALDOA):c.680G>A (p.Arg227His) GRCh37: Chr16:30080277 GRCh38: Chr16:30068956	ALDOA, LOC112694756	R173H, R227H	HNSHA due to aldolase A deficiency	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 24389795.	NM_001243177.4(ALDOA):c.1151A>G (p.Lys384Arg) GRCh37: Chr16:30081340 GRCh38: Chr16:30070019	ALDOA, LOC112694756	K330R, K384R	HNSHA due to aldolase A deficiency	Uncertain significance (Jan 15, 2023)	criteria provided, single submitter
Select item 24286026.	NM_001243177.4(ALDOA):c.966C>T (p.Ile322=) GRCh37: Chr16:30081155 GRCh38: Chr16:30069834	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 24285807.	NM_001243177.4(ALDOA):c.925A>G (p.Thr309Ala) GRCh37: Chr16:30080958 GRCh38: Chr16:30069637	LOC112694756, ALDOA	T255A, T309A	HNSHA due to aldolase A deficiency	Uncertain significance (Apr 27, 2022)	criteria provided, single submitter
Select item 24185058.	NM_001243177.4(ALDOA):c.1158C>T (p.Ala386=) GRCh37: Chr16:30081347 GRCh38: Chr16:30070026	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 24167179.	NM_001243177.4(ALDOA):c.935G>A (p.Arg312His) GRCh37: Chr16:30080968 GRCh38: Chr16:30069647	ALDOA, LOC112694756	R258H, R312H	HNSHA due to aldolase A deficiency	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 220173110.	NM_001243177.4(ALDOA):c.630A>G (p.Glu210=) GRCh37: Chr16:30080227 GRCh38: Chr16:30068906	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 219867211.	NM_001243177.4(ALDOA):c.1080G>T (p.Leu360=) GRCh37: Chr16:30081269 GRCh38: Chr16:30069948	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 219642012.	NM_001365304.2(LOC112694756):c.*1050-9G>A GRCh37: Chr16:30080618 GRCh38: Chr16:30069297	LOC112694756, ALDOA		HNSHA due to aldolase A deficiency	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 219607913.	NM_001243177.4(ALDOA):c.1029G>A (p.Lys343=) GRCh37: Chr16:30081218 GRCh38: Chr16:30069897	LOC112694756, ALDOA		HNSHA due to aldolase A deficiency	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 219493714.	NM_001365304.2(LOC112694756):c.*1049+17T>C GRCh37: Chr16:30080316 GRCh38: Chr16:30068995	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 219052215.	NM_001243177.4(ALDOA):c.1141G>A (p.Glu381Lys) GRCh37: Chr16:30081330 GRCh38: Chr16:30070009	ALDOA, LOC112694756	E327K, E381K	HNSHA due to aldolase A deficiency	Uncertain significance (Feb 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218644516.	NM_001243177.4(ALDOA):c.505C>T (p.Pro169Ser) GRCh37: Chr16:30079985 GRCh38: Chr16:30068664	LOC112694756, ALDOA	P115S, P169S	HNSHA due to aldolase A deficiency	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218347017.	NM_001243177.4(ALDOA):c.318C>T (p.Thr106=) GRCh37: Chr16:30078814 GRCh38: Chr16:30067493	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (Jun 7, 2022)	criteria provided, single submitter
Select item 218126418.	NM_001243177.4(ALDOA):c.582G>A (p.Lys194=) GRCh37: Chr16:30080179 GRCh38: Chr16:30068858	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 217959619.	NM_001243177.4(ALDOA):c.780C>T (p.Thr260=) GRCh37: Chr16:30080704 GRCh38: Chr16:30069383	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 217778420.	NM_001243177.4(ALDOA):c.649G>A (p.Ala217Thr) GRCh37: Chr16:30080246 GRCh38: Chr16:30068925	LOC112694756, ALDOA	A163T, A217T	HNSHA due to aldolase A deficiency	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 217744821.	NM_001243177.4(ALDOA):c.184C>T (p.Leu62=) GRCh37: Chr16:30078597 GRCh38: Chr16:30067276	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 217522922.	NM_001365304.2(LOC112694756):c.*622-9C>G GRCh37: Chr16:30078762 GRCh38: Chr16:30067441	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 217359723.	NM_001365304.2(LOC112694756):c.*833+17C>T GRCh37: Chr16:30078999 GRCh38: Chr16:30067678	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 217327724.	NM_001365304.2(LOC112694756):c.*1050-10C>T GRCh37: Chr16:30080617 GRCh38: Chr16:30069296	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 217111725.	NM_001243177.4(ALDOA):c.368G>A (p.Arg123His) GRCh37: Chr16:30078864 GRCh38: Chr16:30067543	ALDOA, LOC112694756	R123H, R69H	HNSHA due to aldolase A deficiency	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 216933726.	NM_001243177.4(ALDOA):c.562C>T (p.Arg188Cys) GRCh37: Chr16:30080159 GRCh38: Chr16:30068838	LOC112694756, ALDOA	R134C, R188C	HNSHA due to aldolase A deficiency	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 216915027.	NM_001365304.2(LOC112694756):c.*1134-12G>C GRCh37: Chr16:30080808 GRCh38: Chr16:30069487	LOC112694756, ALDOA		HNSHA due to aldolase A deficiency	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 216855328.	NM_001365304.2(LOC112694756):c.*1309-8C>T GRCh37: Chr16:30081143 GRCh38: Chr16:30069822	LOC112694756, ALDOA		HNSHA due to aldolase A deficiency	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 216763629.	NM_001243177.4(ALDOA):c.1154G>A (p.Arg385Gln) GRCh37: Chr16:30081343 GRCh38: Chr16:30070022	LOC112694756, ALDOA	R331Q, R385Q	HNSHA due to aldolase A deficiency	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 216747830.	NM_001243177.4(ALDOA):c.876T>G (p.His292Gln) GRCh37: Chr16:30080909 GRCh38: Chr16:30069588	ALDOA, LOC112694756	H238Q, H292Q	HNSHA due to aldolase A deficiency	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 216702131.	NM_001243177.4(ALDOA):c.797C>T (p.Ala266Val) GRCh37: Chr16:30080830 GRCh38: Chr16:30069509	ALDOA, LOC112694756	A212V, A266V	HNSHA due to aldolase A deficiency	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 216270232.	NM_001365304.2(LOC112694756):c.*1509-16C>T GRCh37: Chr16:30081422 GRCh38: Chr16:30070101	LOC112694756, ALDOA		HNSHA due to aldolase A deficiency	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 215870533.	NM_001243177.4(ALDOA):c.220G>A (p.Ala74Thr) GRCh37: Chr16:30078633 GRCh38: Chr16:30067312	ALDOA, LOC112694756	A20T, A74T	HNSHA due to aldolase A deficiency	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 215455434.	NM_001243177.4(ALDOA):c.613G>T (p.Val205Leu) GRCh37: Chr16:30080210 GRCh38: Chr16:30068889	ALDOA, LOC112694756	V151L, V205L	HNSHA due to aldolase A deficiency	Uncertain significance (Dec 22, 2021)	criteria provided, single submitter
Select item 215399835.	NM_001243177.4(ALDOA):c.499G>A (p.Val167Met) GRCh37: Chr16:30079979 GRCh38: Chr16:30068658	ALDOA, LOC112694756	V113M, V167M	HNSHA due to aldolase A deficiency	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 215355236.	NM_001243177.4(ALDOA):c.469G>A (p.Gly157Ser) GRCh37: Chr16:30078965 GRCh38: Chr16:30067644	ALDOA, LOC112694756	G103S, G157S	HNSHA due to aldolase A deficiency	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 215056137.	NM_001365304.2(LOC112694756):c.*1509-14C>A GRCh37: Chr16:30081424 GRCh38: Chr16:30070103	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 215043538.	NM_001243177.4(ALDOA):c.316A>G (p.Thr106Ala) GRCh37: Chr16:30078812 GRCh38: Chr16:30067491	LOC112694756, ALDOA	T106A, T52A	HNSHA due to aldolase A deficiency	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 214666339.	NM_001243177.4(ALDOA):c.803A>G (p.Tyr268Cys) GRCh37: Chr16:30080836 GRCh38: Chr16:30069515	LOC112694756, ALDOA	Y214C, Y268C	HNSHA due to aldolase A deficiency	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 214338840.	NM_001365304.2(LOC112694756):c.*1134-17C>T GRCh37: Chr16:30080803 GRCh38: Chr16:30069482	LOC112694756, ALDOA		HNSHA due to aldolase A deficiency	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 214095341.	NM_001243177.4(ALDOA):c.828C>T (p.Ile276=) GRCh37: Chr16:30080861 GRCh38: Chr16:30069540	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 213948342.	NM_001243177.4(ALDOA):c.934C>T (p.Arg312Cys) GRCh37: Chr16:30080967 GRCh38: Chr16:30069646	LOC112694756, ALDOA	R312C, R258C	HNSHA due to aldolase A deficiency	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 213697743.	NM_001243177.4(ALDOA):c.1251C>T (p.Ala417=) GRCh37: Chr16:30081527 GRCh38: Chr16:30070206	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 213530444.	NM_001243177.4(ALDOA):c.918G>A (p.Ala306=) GRCh37: Chr16:30080951 GRCh38: Chr16:30069630	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 213125945.	NM_001365304.2(LOC112694756):c.*1050-7C>T GRCh37: Chr16:30080620 GRCh38: Chr16:30069299	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 211345846.	NM_001243177.4(ALDOA):c.302T>C (p.Ile101Thr) GRCh37: Chr16:30078798 GRCh38: Chr16:30067477	ALDOA, LOC112694756	I101T, I47T	HNSHA due to aldolase A deficiency	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 211323147.	NM_001243177.4(ALDOA):c.729T>C (p.Pro243=) GRCh37: Chr16:30080653 GRCh38: Chr16:30069332	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 210923848.	NM_001243177.4(ALDOA):c.1124T>C (p.Leu375Pro) GRCh37: Chr16:30081313 GRCh38: Chr16:30069992	ALDOA, LOC112694756	L375P, L321P	HNSHA due to aldolase A deficiency	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 209824349.	NM_001243177.4(ALDOA):c.524G>A (p.Gly175Asp) GRCh37: Chr16:30080004 GRCh38: Chr16:30068683	ALDOA, LOC112694756	G175D, G121D	HNSHA due to aldolase A deficiency	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 209056950.	NM_001243177.4(ALDOA):c.1186A>G (p.Lys396Glu) GRCh37: Chr16:30081462 GRCh38: Chr16:30070141	LOC112694756, ALDOA	K342E, K396E	HNSHA due to aldolase A deficiency	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 208119051.	NM_001243177.4(ALDOA):c.1236C>T (p.Phe412=) GRCh37: Chr16:30081512 GRCh38: Chr16:30070191	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 208074052.	NM_001243177.4(ALDOA):c.1008C>T (p.Ile336=) GRCh37: Chr16:30081197 GRCh38: Chr16:30069876	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (Jan 13, 2022)	criteria provided, single submitter
Select item 207981253.	NM_001243177.4(ALDOA):c.799G>C (p.Val267Leu) GRCh37: Chr16:30080832 GRCh38: Chr16:30069511	LOC112694756, ALDOA	V267L, V213L	HNSHA due to aldolase A deficiency	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 207837954.	NM_001243177.4(ALDOA):c.721G>A (p.Val241Met) GRCh37: Chr16:30080645 GRCh38: Chr16:30069324	LOC112694756, ALDOA	V241M, V187M	HNSHA due to aldolase A deficiency	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 207761755.	NM_001365304.2(LOC112694756):c.*833+10G>A GRCh37: Chr16:30078992 GRCh38: Chr16:30067671	LOC112694756, ALDOA		HNSHA due to aldolase A deficiency	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 207760356.	NM_001243177.4(ALDOA):c.181G>A (p.Ala61Thr) GRCh37: Chr16:30078594 GRCh38: Chr16:30067273	LOC112694756, ALDOA	A61T, A7T	HNSHA due to aldolase A deficiency	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 207716057.	NM_001243177.4(ALDOA):c.951del (p.Ala318fs) GRCh37: Chr16:30080979 GRCh38: Chr16:30069658	LOC112694756, ALDOA	A264fs, A318fs	HNSHA due to aldolase A deficiency	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 207656358.	NM_001243177.4(ALDOA):c.861G>A (p.Met287Ile) GRCh37: Chr16:30080894 GRCh38: Chr16:30069573	LOC112694756, ALDOA	M287I, M233I	HNSHA due to aldolase A deficiency	Uncertain significance (Jul 24, 2022)	criteria provided, single submitter
Select item 207626659.	NM_001243177.4(ALDOA):c.1250C>T (p.Ala417Val) GRCh37: Chr16:30081526 GRCh38: Chr16:30070205	LOC112694756, ALDOA	A363V, A417V	HNSHA due to aldolase A deficiency	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 207522960.	NM_001243177.4(ALDOA):c.357_359del (p.Ala120del) GRCh37: Chr16:30078852-30078854 GRCh38: Chr16:30067531-30067533	LOC112694756, ALDOA	A66del, A120del	HNSHA due to aldolase A deficiency	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 207199061.	NM_001243177.4(ALDOA):c.515G>A (p.Gly172Glu) GRCh37: Chr16:30079995 GRCh38: Chr16:30068674	ALDOA, LOC112694756	G172E, G118E	HNSHA due to aldolase A deficiency	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 206974762.	NM_001243177.4(ALDOA):c.289C>T (p.Arg97Trp) GRCh37: Chr16:30078785 GRCh38: Chr16:30067464	ALDOA, LOC112694756	R97W, R43W	HNSHA due to aldolase A deficiency	Uncertain significance (Jan 18, 2022)	criteria provided, single submitter
Select item 206149963.	NM_001243177.4(ALDOA):c.189C>T (p.Thr63=) GRCh37: Chr16:30078602 GRCh38: Chr16:30067281	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 206027464.	NM_001365304.2(LOC112694756):c.*1309-2dup GRCh37: Chr16:30081148-30081149 GRCh38: Chr16:30069827-30069828	LOC112694756, ALDOA		HNSHA due to aldolase A deficiency	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 205044165.	NM_001243177.4(ALDOA):c.525C>T (p.Gly175=) GRCh37: Chr16:30080005 GRCh38: Chr16:30068684	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 203046666.	NM_001365304.2(LOC112694756):c.*1509-18A>T GRCh37: Chr16:30081420 GRCh38: Chr16:30070099	LOC112694756, ALDOA		HNSHA due to aldolase A deficiency	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 202989967.	NM_001243177.4(ALDOA):c.552G>C (p.Gly184=) GRCh37: Chr16:30080149 GRCh38: Chr16:30068828	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 200713568.	NM_001243177.4(ALDOA):c.900T>C (p.His300=) GRCh37: Chr16:30080933 GRCh38: Chr16:30069612	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 200682769.	NM_001243177.4(ALDOA):c.590C>A (p.Ala197Asp) GRCh37: Chr16:30080187 GRCh38: Chr16:30068866	LOC112694756, ALDOA	A143D, A197D	HNSHA due to aldolase A deficiency	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 200250170.	NM_001243177.4(ALDOA):c.466G>T (p.Gly156Cys) GRCh37: Chr16:30078962 GRCh38: Chr16:30067641	LOC112694756, ALDOA	G156C, G102C	HNSHA due to aldolase A deficiency	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 199603371.	NM_001243177.4(ALDOA):c.299C>T (p.Ser100Phe) GRCh37: Chr16:30078795 GRCh38: Chr16:30067474	LOC112694756, ALDOA	S100F, S46F	HNSHA due to aldolase A deficiency	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 198587872.	NM_001243177.4(ALDOA):c.462C>T (p.Ser154=) GRCh37: Chr16:30078958 GRCh38: Chr16:30067637	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 198384173.	NM_001365304.2(LOC112694756):c.*1309-7T>G GRCh37: Chr16:30081144 GRCh38: Chr16:30069823	LOC112694756, ALDOA		HNSHA due to aldolase A deficiency	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 197707774.	NM_001365304.2(LOC112694756):c.*889-3T>C GRCh37: Chr16:30080136 GRCh38: Chr16:30068815	LOC112694756, ALDOA		HNSHA due to aldolase A deficiency	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 196481275.	NM_001243177.4(ALDOA):c.733A>G (p.Ile245Val) GRCh37: Chr16:30080657 GRCh38: Chr16:30069336	LOC112694756, ALDOA	I191V, I245V	HNSHA due to aldolase A deficiency	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 196272476.	NM_001243177.4(ALDOA):c.330_331delinsCT (p.Arg111Cys) GRCh37: Chr16:30078826-30078827 GRCh38: Chr16:30067505-30067506	LOC112694756, ALDOA	R57C, R111C	HNSHA due to aldolase A deficiency	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 196158277.	NM_001243177.4(ALDOA):c.636C>T (p.Thr212=) GRCh37: Chr16:30080233 GRCh38: Chr16:30068912	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 195994478.	NM_001243177.4(ALDOA):c.884C>T (p.Thr295Ile) GRCh37: Chr16:30080917 GRCh38: Chr16:30069596	LOC112694756, ALDOA	T241I, T295I	HNSHA due to aldolase A deficiency	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 195366479.	NM_001365304.2(LOC112694756):c.*833+16C>T GRCh37: Chr16:30078998 GRCh38: Chr16:30067677	LOC112694756, ALDOA		HNSHA due to aldolase A deficiency	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 195125980.	NM_001243177.4(ALDOA):c.1033C>A (p.Pro345Thr) GRCh37: Chr16:30081222 GRCh38: Chr16:30069901	LOC112694756, ALDOA	P291T, P345T	HNSHA due to aldolase A deficiency	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 194525081.	NM_001243177.4(ALDOA):c.288G>A (p.Lys96=) GRCh37: Chr16:30078784 GRCh38: Chr16:30067463	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 194312882.	NM_001243177.4(ALDOA):c.290G>C (p.Arg97Pro) GRCh37: Chr16:30078786 GRCh38: Chr16:30067465	ALDOA, LOC112694756	R97P, R43P	HNSHA due to aldolase A deficiency	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 193885683.	NM_001365304.2(LOC112694756):c.*622-3del GRCh37: Chr16:30078766 GRCh38: Chr16:30067445	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 193717784.	NM_001243177.4(ALDOA):c.867C>T (p.Thr289=) GRCh37: Chr16:30080900 GRCh38: Chr16:30069579	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 193535585.	NM_001243177.4(ALDOA):c.951C>A (p.Pro317=) GRCh37: Chr16:30080984 GRCh38: Chr16:30069663	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 193497086.	NM_001243177.4(ALDOA):c.425C>T (p.Ala142Val) GRCh37: Chr16:30078921 GRCh38: Chr16:30067600	ALDOA, LOC112694756	A142V, A88V	HNSHA due to aldolase A deficiency	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 193415087.	NM_001365304.2(LOC112694756):c.*1509-17C>T GRCh37: Chr16:30081421 GRCh38: Chr16:30070100	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 193288488.	NM_001243177.4(ALDOA):c.804C>T (p.Tyr268=) GRCh37: Chr16:30080837 GRCh38: Chr16:30069516	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 192965489.	NM_001243177.4(ALDOA):c.239C>T (p.Pro80Leu) GRCh37: Chr16:30078652 GRCh38: Chr16:30067331	LOC112694756, ALDOA	P26L, P80L	HNSHA due to aldolase A deficiency	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 190833290.	NM_001365304.2(LOC112694756):c.*1509-11T>C GRCh37: Chr16:30081427 GRCh38: Chr16:30070106	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 190247691.	NM_001365304.2(LOC112694756):c.*1308+15C>T GRCh37: Chr16:30081009 GRCh38: Chr16:30069688	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 190136992.	NM_001365304.2(LOC112694756):c.*1049+8T>C GRCh37: Chr16:30080307 GRCh38: Chr16:30068986	LOC112694756, ALDOA		HNSHA due to aldolase A deficiency	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 167947793.	NM_001243177.4(ALDOA):c.322G>A (p.Glu108Lys) GRCh37: Chr16:30078818 GRCh38: Chr16:30067497	LOC112694756, ALDOA	E108K, E54K	HNSHA due to aldolase A deficiency	Uncertain significance (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158064794.	NM_001243177.4(ALDOA):c.426G>A (p.Ala142=) GRCh37: Chr16:30078922 GRCh38: Chr16:30067601	LOC112694756, ALDOA		HNSHA due to aldolase A deficiency	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 157739895.	NM_001243177.4(ALDOA):c.668A>G (p.Asn223Ser) GRCh37: Chr16:30080265 GRCh38: Chr16:30068944	ALDOA, LOC112694756	N169S, N223S	HNSHA due to aldolase A deficiency	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 156276296.	NM_001243177.4(ALDOA):c.945G>C (p.Val315=) GRCh37: Chr16:30080978 GRCh38: Chr16:30069657	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (Feb 5, 2021)	criteria provided, single submitter
Select item 155896197.	NM_001365304.2(LOC112694756):c.*1508+8T>C GRCh37: Chr16:30081358 GRCh38: Chr16:30070037	ALDOA, LOC112694756		HNSHA due to aldolase A deficiency	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 152498298.	NM_001243177.4(ALDOA):c.926C>T (p.Thr309Ile) GRCh37: Chr16:30080959 GRCh38: Chr16:30069638	ALDOA, LOC112694756	T255I, T309I	HNSHA due to aldolase A deficiency	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 151748899.	NM_001243177.4(ALDOA):c.1208C>G (p.Ala403Gly) GRCh37: Chr16:30081484 GRCh38: Chr16:30070163	ALDOA, LOC112694756	A349G, A403G	HNSHA due to aldolase A deficiency	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 1508859100.	NM_001243177.4(ALDOA):c.1069G>A (p.Gly357Ser) GRCh37: Chr16:30081258 GRCh38: Chr16:30069937	ALDOA, LOC112694756	G357S, G303S	HNSHA due to aldolase A deficiency	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter

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