ClinVar for MedGen (Select 124337) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25772321.	NM_000159.4(GCDH):c.148T>C (p.Trp50Arg) GRCh37: Chr19:13002665 GRCh38: Chr19:12891851	GCDH, LOC117125594	W50R	Glutaric aciduria, type 1	Likely pathogenic (Jul 24, 2023)	criteria provided, single submitter
Select item 24442722.	NM_000159.4(GCDH):c.1060_1065del (p.Gly354_Arg355del) GRCh37: Chr19:13008219-13008224 GRCh38: Chr19:12897405-12897410	GCDH		Glutaric aciduria, type 1	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24404383.	NM_000159.4(GCDH):c.196_198del (p.Leu66del) GRCh37: Chr19:13002711-13002713 GRCh38: Chr19:12891897-12891899	GCDH, LOC117125594	L66del	Glutaric aciduria, type 1	Likely pathogenic (Dec 7, 2021)	criteria provided, single submitter
Select item 24224984.	NC_000019.9:g.(?_10828919)_(13482613_?)dup GRCh37: Chr19:10828919-13482613	KLF1, TRIR, RNASEH2A, RGL3, RTBDN, TMED1, TMEM205, TNPO2, ZNF653, ZNF69, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF878, ACP5, ANGPTL8, BEST2, C19orf38, CACNA1A, CALR, CARM1, CCDC159, CNN1, DAND5, DHPS, DNASE2, DNM2, DOCK6, ECSIT, ELAVL3, ELOF1, EPOR, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KANK2, LDLR, LYL1, MAN2B1, MAST1, MIR199A1, NACC1, NFIX, ODAD3, PRDX2, PRKCSH, RAB3D, RAD23A, SMARCA4, SPC24, STX10, SWSAP1, SYCE2, TIMM29, TRMT1, TSPAN16, WDR83, WDR83OS, YIPF2, ZNF136, ZNF20, ZNF433, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF563, ZNF564, ZNF625, ZNF627		Deficiency of alpha-mannosidase, Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42, Charcot-Marie-Tooth disease dominant intermediate B, Glutaric aciduria, type 1	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 24224975.	NC_000019.9:g.(?_13001933)_(13004477_?)del GRCh37: Chr19:13001933-13004477	GCDH		Glutaric aciduria, type 1	Pathogenic (Jul 25, 2022)	criteria provided, single submitter
Select item 24224966.	NC_000019.9:g.(?_13001933)_(13003258_?)del GRCh37: Chr19:13001933-13003258	GCDH		Glutaric aciduria, type 1	Pathogenic (May 25, 2022)	criteria provided, single submitter
Select item 24187837.	NM_000159.4(GCDH):c.271+19G>A GRCh37: Chr19:13002807 GRCh38: Chr19:12891993	GCDH		Glutaric aciduria, type 1	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 24158268.	NM_000159.4(GCDH):c.227A>G (p.Gln76Arg) GRCh37: Chr19:13002744 GRCh38: Chr19:12891930	GCDH, LOC117125594	Q76R	Glutaric aciduria, type 1	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 24152239.	NM_000159.4(GCDH):c.1278A>G (p.Arg426=) GRCh37: Chr19:13010316 GRCh38: Chr19:12899502	GCDH, LOC126862860, SYCE2		Glutaric aciduria, type 1	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 241519810.	NM_000159.4(GCDH):c.576_577delinsAC (p.Thr193Pro) GRCh37: Chr19:13006876-13006877 GRCh38: Chr19:12896062-12896063	GCDH	T193P	Glutaric aciduria, type 1	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 241336711.	NM_000159.4(GCDH):c.80C>T (p.Ala27Val) GRCh37: Chr19:13002198 GRCh38: Chr19:12891384	GCDH, LOC117125594	A27V	Glutaric aciduria, type 1	Uncertain significance (Jul 31, 2022)	criteria provided, single submitter
Select item 219421012.	NM_000159.4(GCDH):c.728G>A (p.Arg243Gln) GRCh37: Chr19:13007111 GRCh38: Chr19:12896297	GCDH	R243Q	Glutaric aciduria, type 1	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 218859613.	NM_000159.4(GCDH):c.123T>A (p.Ala41=) GRCh37: Chr19:13002332 GRCh38: Chr19:12891518	GCDH, LOC117125594		Glutaric aciduria, type 1	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 218849214.	NM_000159.4(GCDH):c.276T>C (p.Phe92=) GRCh37: Chr19:13002934 GRCh38: Chr19:12892120	GCDH		Glutaric aciduria, type 1	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 217929515.	NM_000159.4(GCDH):c.1097T>C (p.Met366Thr) GRCh37: Chr19:13008531 GRCh38: Chr19:12897717	GCDH	M366T	Glutaric aciduria, type 1	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 217921916.	NM_000159.4(GCDH):c.853-18G>A GRCh37: Chr19:13007706 GRCh38: Chr19:12896892	GCDH		Glutaric aciduria, type 1	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 217820417.	NM_000159.4(GCDH):c.614C>A (p.Thr205Asn) GRCh37: Chr19:13006914 GRCh38: Chr19:12896100	GCDH	T205N	Glutaric aciduria, type 1	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 217621618.	NM_000159.4(GCDH):c.63C>T (p.Arg21=) GRCh37: Chr19:13002181 GRCh38: Chr19:12891367	GCDH, LOC117125594		Glutaric aciduria, type 1	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 217325619.	NM_000159.4(GCDH):c.1056G>A (p.Gln352=) GRCh37: Chr19:13008216 GRCh38: Chr19:12897402	GCDH		Glutaric aciduria, type 1	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 217250620.	NM_000159.4(GCDH):c.1244-17G>A GRCh37: Chr19:13010265 GRCh38: Chr19:12899451	LOC126862860, SYCE2, GCDH		Glutaric aciduria, type 1	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 217125221.	NM_000159.4(GCDH):c.1212C>T (p.Ala404=) GRCh37: Chr19:13008646 GRCh38: Chr19:12897832	GCDH		Glutaric aciduria, type 1	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 216961022.	NM_000159.4(GCDH):c.257C>G (p.Ala86Gly) GRCh37: Chr19:13002774 GRCh38: Chr19:12891960	GCDH	A86G	Glutaric aciduria, type 1	Pathogenic (Dec 31, 2021)	criteria provided, single submitter
Select item 216088323.	NM_000159.4(GCDH):c.535C>T (p.Leu179Phe) GRCh37: Chr19:13006835 GRCh38: Chr19:12896021	GCDH	L179F	Glutaric aciduria, type 1	Likely pathogenic (Jul 5, 2022)	criteria provided, single submitter
Select item 215064324.	NM_000159.4(GCDH):c.283G>C (p.Glu95Gln) GRCh37: Chr19:13002941 GRCh38: Chr19:12892127	GCDH	E95Q	Glutaric aciduria, type 1	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 214829025.	NM_000159.4(GCDH):c.851G>C (p.Gly284Ala) GRCh37: Chr19:13007234 GRCh38: Chr19:12896420	GCDH	G284A	Glutaric aciduria, type 1	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 214466526.	NM_000159.4(GCDH):c.78G>A (p.Ser26=) GRCh37: Chr19:13002196 GRCh38: Chr19:12891382	GCDH, LOC117125594		Glutaric aciduria, type 1	Likely benign (Oct 30, 2022)	criteria provided, single submitter
Select item 214315127.	NM_000159.4(GCDH):c.920dup (p.Cys308fs) GRCh37: Chr19:13007789-13007790 GRCh38: Chr19:12896975-12896976	GCDH	C308fs	Glutaric aciduria, type 1	Pathogenic (Oct 8, 2022)	criteria provided, single submitter
Select item 214176128.	NM_000159.4(GCDH):c.853-20G>T GRCh37: Chr19:13007704 GRCh38: Chr19:12896890	GCDH		Glutaric aciduria, type 1	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 213948029.	NM_000159.4(GCDH):c.304G>C (p.Glu102Gln) GRCh37: Chr19:13002962 GRCh38: Chr19:12892148	GCDH	E102Q	Glutaric aciduria, type 1	Uncertain significance (Oct 6, 2022)	criteria provided, single submitter
Select item 213825230.	NM_000159.4(GCDH):c.1238A>G (p.Tyr413Cys) GRCh37: Chr19:13008672 GRCh38: Chr19:12897858	GCDH	Y413C	Glutaric aciduria, type 1	Pathogenic (Apr 12, 2022)	criteria provided, single submitter
Select item 213825131.	NM_000159.4(GCDH):c.1219C>G (p.Leu407Val) GRCh37: Chr19:13008653 GRCh38: Chr19:12897839	GCDH	L407V	Glutaric aciduria, type 1	Likely pathogenic (Jul 23, 2022)	criteria provided, single submitter
Select item 213825032.	NM_000159.4(GCDH):c.901G>A (p.Val301Met) GRCh37: Chr19:13007772 GRCh38: Chr19:12896958	GCDH	V301M	Glutaric aciduria, type 1	Pathogenic (Oct 3, 2022)	criteria provided, single submitter
Select item 213824933.	NM_000159.4(GCDH):c.833C>G (p.Pro278Arg) GRCh37: Chr19:13007216 GRCh38: Chr19:12896402	GCDH	P278R	Glutaric aciduria, type 1	Pathogenic (Sep 18, 2022)	criteria provided, single submitter
Select item 213824734.	NM_000159.4(GCDH):c.713T>C (p.Leu238Pro) GRCh37: Chr19:13007096 GRCh38: Chr19:12896282	GCDH	L238P	Glutaric aciduria, type 1	Pathogenic (Jul 14, 2022)	criteria provided, single submitter
Select item 213824535.	NM_000159.4(GCDH):c.464A>G (p.Tyr155Cys) GRCh37: Chr19:13004426 GRCh38: Chr19:12893612	GCDH	Y155C	Glutaric aciduria, type 1	Pathogenic (Jul 28, 2022)	criteria provided, single submitter
Select item 213824436.	NM_000159.4(GCDH):c.442G>A (p.Val148Ile) GRCh37: Chr19:13004404 GRCh38: Chr19:12893590	GCDH	V148I	Glutaric aciduria, type 1	Pathogenic (May 6, 2022)	criteria provided, single submitter
Select item 213116337.	NM_000159.4(GCDH):c.1200G>T (p.Val400=) GRCh37: Chr19:13008634 GRCh38: Chr19:12897820	GCDH		Glutaric aciduria, type 1	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 212943138.	NM_000159.4(GCDH):c.981_982delinsTT (p.Arg328Trp) GRCh37: Chr19:13008141-13008142 GRCh38: Chr19:12897327-12897328	GCDH	R328W	Glutaric aciduria, type 1	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 212896339.	NM_000159.4(GCDH):c.747del (p.Ile250fs) GRCh37: Chr19:13007129 GRCh38: Chr19:12896315	GCDH	I250fs	Glutaric aciduria, type 1	Pathogenic (Apr 21, 2022)	criteria provided, single submitter
Select item 212671640.	NM_000159.4(GCDH):c.334+14T>C GRCh37: Chr19:13003006 GRCh38: Chr19:12892192	GCDH		Glutaric aciduria, type 1	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 212539241.	NM_000159.4(GCDH):c.178C>T (p.Leu60=) GRCh37: Chr19:13002695 GRCh38: Chr19:12891881	LOC117125594, GCDH		Glutaric aciduria, type 1	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 212464542.	NM_000159.4(GCDH):c.1021A>T (p.Thr341Ser) GRCh37: Chr19:13008181 GRCh38: Chr19:12897367	GCDH	T341S	Glutaric aciduria, type 1	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 212404443.	NM_000159.4(GCDH):c.279T>C (p.His93=) GRCh37: Chr19:13002937 GRCh38: Chr19:12892123	GCDH		Glutaric aciduria, type 1	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 211985644.	NM_000159.4(GCDH):c.1314dup (p.Ter439ValextTer?) GRCh37: Chr19:13010351-13010352 GRCh38: Chr19:12899537-12899538	GCDH, LOC126862860, SYCE2		Glutaric aciduria, type 1	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 211879245.	NM_000159.4(GCDH):c.957G>A (p.Arg319=) GRCh37: Chr19:13008117 GRCh38: Chr19:12897303	GCDH		Glutaric aciduria, type 1	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 211570746.	NM_000159.4(GCDH):c.444C>T (p.Val148=) GRCh37: Chr19:13004406 GRCh38: Chr19:12893592	GCDH		Glutaric aciduria, type 1	Likely benign (Mar 22, 2022)	criteria provided, single submitter
Select item 211520847.	NM_000159.4(GCDH):c.91+8T>A GRCh37: Chr19:13002217 GRCh38: Chr19:12891403	GCDH, LOC117125594		Glutaric aciduria, type 1	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 211372348.	NM_000159.4(GCDH):c.171G>A (p.Glu57=) GRCh37: Chr19:13002688 GRCh38: Chr19:12891874	GCDH, LOC117125594		Glutaric aciduria, type 1	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 210982349.	NM_000159.4(GCDH):c.679C>G (p.Arg227Gly) GRCh37: Chr19:13007062 GRCh38: Chr19:12896248	GCDH	R227G	Glutaric aciduria, type 1	Likely pathogenic (Mar 18, 2022)	criteria provided, single submitter
Select item 210945050.	NM_000159.4(GCDH):c.311G>C (p.Gly104Ala) GRCh37: Chr19:13002969 GRCh38: Chr19:12892155	GCDH	G104A	Glutaric aciduria, type 1	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 210112951.	NM_000159.4(GCDH):c.345_349del (p.Cys115fs) GRCh37: Chr19:13004303-13004307 GRCh38: Chr19:12893489-12893493	GCDH	C115fs	Glutaric aciduria, type 1	Pathogenic (Oct 21, 2022)	criteria provided, single submitter
Select item 209914852.	NM_000159.4(GCDH):c.1082+1G>A GRCh37: Chr19:13008243 GRCh38: Chr19:12897429	GCDH		Glutaric aciduria, type 1	Likely pathogenic (Aug 20, 2022)	criteria provided, single submitter
Select item 209914653.	NM_000159.4(GCDH):c.127+1G>T GRCh37: Chr19:13002337 GRCh38: Chr19:12891523	GCDH, LOC117125594		Glutaric aciduria, type 1	Pathogenic (Sep 2, 2022)	criteria provided, single submitter
Select item 209200854.	NM_000159.4(GCDH):c.852+1del GRCh37: Chr19:13007232 GRCh38: Chr19:12896418	GCDH		Glutaric aciduria, type 1	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 209015955.	NM_000159.4(GCDH):c.1085C>T (p.Ala362Val) GRCh37: Chr19:13008519 GRCh38: Chr19:12897705	GCDH	A362V	Glutaric aciduria, type 1	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 206311056.	NM_000159.4(GCDH):c.49C>G (p.Leu17Val) GRCh37: Chr19:13002167 GRCh38: Chr19:12891353	GCDH, LOC117125594	L17V	Glutaric aciduria, type 1	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 206242957.	NM_000159.4(GCDH):c.335-18C>T GRCh37: Chr19:13004279 GRCh38: Chr19:12893465	GCDH		Glutaric aciduria, type 1	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 205811858.	NM_000159.4(GCDH):c.788T>C (p.Met263Thr) GRCh37: Chr19:13007171 GRCh38: Chr19:12896357	GCDH	M263T	Glutaric aciduria, type 1	Likely pathogenic (Dec 24, 2021)	criteria provided, single submitter
Select item 205502859.	NM_000159.4(GCDH):c.128-5C>T GRCh37: Chr19:13002640 GRCh38: Chr19:12891826	GCDH, LOC117125594		Glutaric aciduria, type 1	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 205405860.	NM_000159.4(GCDH):c.548A>G (p.Asn183Ser) GRCh37: Chr19:13006848 GRCh38: Chr19:12896034	GCDH	N183S	Glutaric aciduria, type 1	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 203837161.	NM_000159.4(GCDH):c.570C>T (p.Ser190=) GRCh37: Chr19:13006870 GRCh38: Chr19:12896056	GCDH		Glutaric aciduria, type 1	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 203643762.	NM_000159.4(GCDH):c.429C>T (p.Val143=) GRCh37: Chr19:13004391 GRCh38: Chr19:12893577	GCDH		Glutaric aciduria, type 1	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 203573263.	NM_000159.4(GCDH):c.1020C>T (p.Leu340=) GRCh37: Chr19:13008180 GRCh38: Chr19:12897366	GCDH		Glutaric aciduria, type 1	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 203553464.	NM_000159.4(GCDH):c.396G>A (p.Arg132=) GRCh37: Chr19:13004358 GRCh38: Chr19:12893544	GCDH		Glutaric aciduria, type 1	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 203418065.	NM_000159.4(GCDH):c.555A>C (p.Gly185=) GRCh37: Chr19:13006855 GRCh38: Chr19:12896041	GCDH		Glutaric aciduria, type 1	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 203417866.	NM_000159.4(GCDH):c.7C>T (p.Leu3=) GRCh37: Chr19:13002125 GRCh38: Chr19:12891311	GCDH, LOC117125594		Glutaric aciduria, type 1	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 203379767.	NM_000159.4(GCDH):c.158C>T (p.Pro53Leu) GRCh37: Chr19:13002675 GRCh38: Chr19:12891861	GCDH, LOC117125594	P53L	Glutaric aciduria, type 1	Likely pathogenic (Oct 3, 2022)	criteria provided, single submitter
Select item 202928768.	NM_000159.4(GCDH):c.252G>A (p.Leu84=) GRCh37: Chr19:13002769 GRCh38: Chr19:12891955	GCDH		Glutaric aciduria, type 1	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 202401269.	NM_000159.4(GCDH):c.1116G>C (p.Arg372Ser) GRCh37: Chr19:13008550 GRCh38: Chr19:12897736	GCDH	R372S	Glutaric aciduria, type 1	Likely pathogenic (Dec 2, 2021)	criteria provided, single submitter
Select item 202220270.	NM_000159.4(GCDH):c.271+17G>A GRCh37: Chr19:13002805 GRCh38: Chr19:12891991	GCDH		Glutaric aciduria, type 1	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 202203071.	NM_000159.4(GCDH):c.189T>C (p.Asp63=) GRCh37: Chr19:13002706 GRCh38: Chr19:12891892	GCDH, LOC117125594		Glutaric aciduria, type 1	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 202188072.	NM_000159.4(GCDH):c.1218C>T (p.Asn406=) GRCh37: Chr19:13008652 GRCh38: Chr19:12897838	GCDH		Glutaric aciduria, type 1	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 202167673.	NM_000159.4(GCDH):c.204G>C (p.Arg68Ser) GRCh37: Chr19:13002721 GRCh38: Chr19:12891907	GCDH, LOC117125594	R68S	Glutaric aciduria, type 1	Likely pathogenic (Aug 5, 2022)	criteria provided, single submitter
Select item 201709374.	NM_000159.4(GCDH):c.127+18C>T GRCh37: Chr19:13002354 GRCh38: Chr19:12891540	GCDH, LOC117125594		Glutaric aciduria, type 1	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 201641575.	NM_000159.4(GCDH):c.524del (p.Gly175fs) GRCh37: Chr19:13006822 GRCh38: Chr19:12896008	GCDH	G175fs	Glutaric aciduria, type 1	Pathogenic (Jul 13, 2022)	criteria provided, single submitter
Select item 200669476.	NM_000159.4(GCDH):c.860T>C (p.Phe287Ser) GRCh37: Chr19:13007731 GRCh38: Chr19:12896917	GCDH	F287S	Glutaric aciduria, type 1	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 200599477.	NM_000159.4(GCDH):c.972C>A (p.Val324=) GRCh37: Chr19:13008132 GRCh38: Chr19:12897318	GCDH		Glutaric aciduria, type 1	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 200521178.	NM_000159.4(GCDH):c.84G>T (p.Ala28=) GRCh37: Chr19:13002202 GRCh38: Chr19:12891388	GCDH, LOC117125594		Glutaric aciduria, type 1	Likely benign (Jun 12, 2022)	criteria provided, single submitter
Select item 200415879.	NM_000159.4(GCDH):c.1167G>C (p.Leu389=) GRCh37: Chr19:13008601 GRCh38: Chr19:12897787	GCDH		Glutaric aciduria, type 1	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 200374480.	NM_000159.4(GCDH):c.316C>T (p.Leu106=) GRCh37: Chr19:13002974 GRCh38: Chr19:12892160	GCDH		Glutaric aciduria, type 1	Likely benign (Jun 9, 2022)	criteria provided, single submitter
Select item 200131481.	NM_000159.4(GCDH):c.636-6C>A GRCh37: Chr19:13007013 GRCh38: Chr19:12896199	GCDH		Glutaric aciduria, type 1	Likely benign (May 31, 2022)	criteria provided, single submitter
Select item 199836682.	NM_000159.4(GCDH):c.108A>G (p.Thr36=) GRCh37: Chr19:13002317 GRCh38: Chr19:12891503	GCDH, LOC117125594		Glutaric aciduria, type 1	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 199647983.	NM_000159.4(GCDH):c.272-9C>T GRCh37: Chr19:13002921 GRCh38: Chr19:12892107	GCDH		Glutaric aciduria, type 1	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 199536484.	NM_000159.4(GCDH):c.659A>T (p.Asp220Val) GRCh37: Chr19:13007042 GRCh38: Chr19:12896228	GCDH	D220V	Glutaric aciduria, type 1	Likely pathogenic (May 16, 2022)	criteria provided, single submitter
Select item 199526585.	NM_000159.4(GCDH):c.1214T>C (p.Met405Thr) GRCh37: Chr19:13008648 GRCh38: Chr19:12897834	GCDH	M405T	Glutaric aciduria, type 1	Likely pathogenic (May 16, 2022)	criteria provided, single submitter
Select item 199373686.	NM_000159.4(GCDH):c.1254C>T (p.Asp418=) GRCh37: Chr19:13010292 GRCh38: Chr19:12899478	GCDH, LOC126862860, SYCE2		Glutaric aciduria, type 1	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 199346687.	NM_000159.4(GCDH):c.272-20G>C GRCh37: Chr19:13002910 GRCh38: Chr19:12892096	GCDH		Glutaric aciduria, type 1	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 199222588.	NM_000159.4(GCDH):c.900C>T (p.Gly300=) GRCh37: Chr19:13007771 GRCh38: Chr19:12896957	GCDH		Glutaric aciduria, type 1	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 198460189.	NM_000159.4(GCDH):c.1068G>A (p.Leu356=) GRCh37: Chr19:13008228 GRCh38: Chr19:12897414	GCDH		Glutaric aciduria, type 1	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 197405890.	NM_000159.4(GCDH):c.244C>T (p.Arg82Cys) GRCh37: Chr19:13002761 GRCh38: Chr19:12891947	GCDH	R82C	Glutaric aciduria, type 1	Likely pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 197285591.	NM_000159.4(GCDH):c.1203C>T (p.Ile401=) GRCh37: Chr19:13008637 GRCh38: Chr19:12897823	GCDH		Glutaric aciduria, type 1	Likely benign (May 31, 2022)	criteria provided, single submitter
Select item 196199792.	NM_000159.4(GCDH):c.853-4A>G GRCh37: Chr19:13007720 GRCh38: Chr19:12896906	GCDH		Glutaric aciduria, type 1	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 196170393.	NM_000159.4(GCDH):c.636-7T>C GRCh37: Chr19:13007012 GRCh38: Chr19:12896198	GCDH		Glutaric aciduria, type 1	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 195134294.	NM_000159.4(GCDH):c.525C>G (p.Gly175=) GRCh37: Chr19:13006825 GRCh38: Chr19:12896011	GCDH		Glutaric aciduria, type 1	Likely benign (Sep 4, 2022)	criteria provided, single submitter
Select item 195127595.	NM_000159.4(GCDH):c.831_834dup (p.Gly279fs) GRCh37: Chr19:13007211-13007212 GRCh38: Chr19:12896397-12896398	GCDH	G279fs	Glutaric aciduria, type 1	Pathogenic (Mar 24, 2022)	criteria provided, single submitter
Select item 193866396.	NM_000159.4(GCDH):c.879C>G (p.Ala293=) GRCh37: Chr19:13007750 GRCh38: Chr19:12896936	GCDH		Glutaric aciduria, type 1	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 193816497.	NM_000159.4(GCDH):c.1008G>A (p.Leu336=) GRCh37: Chr19:13008168 GRCh38: Chr19:12897354	GCDH		Glutaric aciduria, type 1	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 193164698.	NM_000159.4(GCDH):c.232A>G (p.Arg78Gly) GRCh37: Chr19:13002749 GRCh38: Chr19:12891935	GCDH, LOC117125594	R78G	Glutaric aciduria, type 1	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 192709899.	NM_000159.4(GCDH):c.681G>C (p.Arg227=) GRCh37: Chr19:13007064 GRCh38: Chr19:12896250	GCDH		Glutaric aciduria, type 1	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 1917505100.	NM_000159.4(GCDH):c.204G>A (p.Arg68=) GRCh37: Chr19:13002721 GRCh38: Chr19:12891907	GCDH, LOC117125594		Glutaric aciduria, type 1	Likely benign (Oct 20, 2022)	criteria provided, single submitter

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