ClinVar for MedGen (Select 82822) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25773701.	NM_002225.5(IVD):c.491T>C (p.Met164Thr) GRCh37: Chr15:40703493 GRCh38: Chr15:40411294	IVD	M134T, M148T, M164T, M193T	Isovaleryl-CoA dehydrogenase deficiency	Likely pathogenic (Jul 5, 2023)	criteria provided, single submitter
Select item 25008292.	NM_002225.5(IVD):c.785-9del GRCh37: Chr15:40707079 GRCh38: Chr15:40414880	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely pathogenic (May 5, 2023)	criteria provided, single submitter
Select item 24409253.	NM_002225.5(IVD):c.149G>T (p.Arg50Leu) GRCh37: Chr15:40699841 GRCh38: Chr15:40407640	IVD	R34L, R50L	Isovaleryl-CoA dehydrogenase deficiency	Likely pathogenic (Jul 26, 2022)	criteria provided, single submitter
Select item 24409184.	NM_002225.5(IVD):c.940C>T (p.Gln314Ter) GRCh37: Chr15:40707661 GRCh38: Chr15:40415462	IVD	Q284, Q298, Q314, Q343	Isovaleryl-CoA dehydrogenase deficiency	Likely pathogenic (Aug 2, 2022)	criteria provided, single submitter
Select item 24329375.	NM_002225.5(IVD):c.1165C>A (p.Pro389Thr) GRCh37: Chr15:40710355 GRCh38: Chr15:40418156	IVD	P359T, P373T, P389T, P418T	Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Aug 9, 2019)	criteria provided, single submitter
Select item 24243766.	NC_000015.9:g.(?_40698010)_(40710472_?)del GRCh37: Chr15:40698010-40710472	IVD		Isovaleryl-CoA dehydrogenase deficiency	Pathogenic (Nov 17, 2021)	criteria provided, single submitter
Select item 24167807.	NM_002225.5(IVD):c.49C>T (p.Leu17=) GRCh37: Chr15:40698077 GRCh38: Chr15:40405876	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Jun 30, 2022)	criteria provided, single submitter
Select item 21991978.	NM_002225.5(IVD):c.234+17G>C GRCh37: Chr15:40699943 GRCh38: Chr15:40407742	IVD	R84P	Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 21983929.	NM_002225.5(IVD):c.784+11C>T GRCh37: Chr15:40705297 GRCh38: Chr15:40413098	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 219665910.	NM_002225.5(IVD):c.634G>A (p.Asp212Asn) GRCh37: Chr15:40703837 GRCh38: Chr15:40411638	IVD	D196N, D212N, D241N, D182N	Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 219136511.	NM_002225.5(IVD):c.1221C>T (p.Ser407=) GRCh37: Chr15:40710411 GRCh38: Chr15:40418212	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Mar 28, 2022)	criteria provided, single submitter
Select item 219090212.	NM_002225.5(IVD):c.1204_1210del (p.Ile402fs) GRCh37: Chr15:40710393-40710399 GRCh38: Chr15:40418194-40418200	IVD	I431fs, I386fs, I372fs, I402fs	Isovaleryl-CoA dehydrogenase deficiency	Pathogenic (Aug 20, 2022)	criteria provided, single submitter
Select item 218820813.	NM_002225.5(IVD):c.34G>A (p.Val12Met) GRCh37: Chr15:40698062 GRCh38: Chr15:40405861	IVD	V12M	Inborn genetic diseases, Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Mar 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218343514.	NM_002225.5(IVD):c.623A>G (p.Tyr208Cys) GRCh37: Chr15:40703826 GRCh38: Chr15:40411627	IVD	Y178C, Y192C, Y208C, Y237C	Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Dec 29, 2021)	criteria provided, single submitter
Select item 217720415.	NM_002225.5(IVD):c.235-15C>T GRCh37: Chr15:40700123 GRCh38: Chr15:40407924	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 217681616.	NM_002225.5(IVD):c.126A>C (p.Leu42=) GRCh37: Chr15:40698154 GRCh38: Chr15:40405953	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 217309317.	NM_002225.5(IVD):c.1206A>G (p.Ile402Met) GRCh37: Chr15:40710396 GRCh38: Chr15:40418197	IVD	I431M, I402M, I386M, I372M	Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 216940018.	NM_002225.5(IVD):c.995G>A (p.Arg332His) GRCh37: Chr15:40708311 GRCh38: Chr15:40416112	IVD	R302H, R332H, R316H, R361H	Inborn genetic diseases, Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Dec 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 216822119.	NM_002225.5(IVD):c.215A>G (p.Asn72Ser) GRCh37: Chr15:40699907 GRCh38: Chr15:40407706	IVD	N56S, N72S	Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 216696320.	NM_002225.5(IVD):c.522C>G (p.Val174=) GRCh37: Chr15:40703524 GRCh38: Chr15:40411325	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 216630821.	NM_002225.5(IVD):c.181C>T (p.Leu61=) GRCh37: Chr15:40699873 GRCh38: Chr15:40407672	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 216115322.	NM_002225.5(IVD):c.235-20C>T GRCh37: Chr15:40700118 GRCh38: Chr15:40407919	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Jan 7, 2022)	criteria provided, single submitter
Select item 215767323.	NM_002225.5(IVD):c.659G>A (p.Arg220Gln) GRCh37: Chr15:40703862 GRCh38: Chr15:40411663	IVD	R220Q, R204Q, R249Q, R190Q	Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 215116524.	NM_002225.5(IVD):c.379G>A (p.Gly127Ser) GRCh37: Chr15:40702919 GRCh38: Chr15:40410720	IVD	G111S, G127S, G156S, G97S	Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 215018825.	NM_002225.5(IVD):c.1088A>T (p.Tyr363Phe) GRCh37: Chr15:40708511 GRCh38: Chr15:40416312	IVD	Y363F, Y333F, Y347F, Y392F	Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 214749226.	NM_002225.5(IVD):c.102C>T (p.Pro34=) GRCh37: Chr15:40698130 GRCh38: Chr15:40405929	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Jul 8, 2022)	criteria provided, single submitter
Select item 213764927.	NM_002225.5(IVD):c.832A>G (p.Ser278Gly) GRCh37: Chr15:40707135 GRCh38: Chr15:40414936	IVD	S262G, S307G, S278G, S248G	Isovaleryl-CoA dehydrogenase deficiency	Likely pathogenic (Aug 4, 2022)	criteria provided, single submitter
Select item 213764828.	NM_002225.5(IVD):c.506_507insT (p.Gly170fs) GRCh37: Chr15:40703508-40703509 GRCh38: Chr15:40411309-40411310	IVD	G170fs, G140fs, G154fs, G199fs	Isovaleryl-CoA dehydrogenase deficiency	Pathogenic (Mar 18, 2022)	criteria provided, single submitter
Select item 213499829.	NM_002225.5(IVD):c.489C>T (p.Ala163=) GRCh37: Chr15:40703491 GRCh38: Chr15:40411292	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Jun 12, 2022)	criteria provided, single submitter
Select item 211798030.	NM_002225.5(IVD):c.634G>C (p.Asp212His) GRCh37: Chr15:40703837 GRCh38: Chr15:40411638	IVD	D241H, D182H, D212H, D196H	Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 211277531.	NM_002225.5(IVD):c.878+7G>A GRCh37: Chr15:40707188 GRCh38: Chr15:40414989	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 211115332.	NM_002225.5(IVD):c.417C>T (p.Arg139=) GRCh37: Chr15:40702957 GRCh38: Chr15:40410758	IVD		Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Jul 8, 2022)	criteria provided, single submitter
Select item 210996933.	NM_002225.5(IVD):c.84G>C (p.Arg28=) GRCh37: Chr15:40698112 GRCh38: Chr15:40405911	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 210762434.	NM_002225.5(IVD):c.681G>A (p.Val227=) GRCh37: Chr15:40703884 GRCh38: Chr15:40411685	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 210659635.	NM_002225.5(IVD):c.880C>T (p.Leu294Phe) GRCh37: Chr15:40707601 GRCh38: Chr15:40415402	IVD	L294F, L323F, L264F, L278F	Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 209829436.	NM_002225.5(IVD):c.1092A>T (p.Ser364=) GRCh37: Chr15:40708515 GRCh38: Chr15:40416316	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 209774037.	NM_002225.5(IVD):c.671C>A (p.Ala224Asp) GRCh37: Chr15:40703874 GRCh38: Chr15:40411675	IVD	A208D, A253D, A194D, A224D	Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Feb 15, 2022)	criteria provided, single submitter
Select item 209198838.	NM_002225.5(IVD):c.78C>G (p.Ser26=) GRCh37: Chr15:40698106 GRCh38: Chr15:40405905	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Feb 2, 2022)	criteria provided, single submitter
Select item 209128739.	NM_002225.5(IVD):c.87C>A (p.Ala29=) GRCh37: Chr15:40698115 GRCh38: Chr15:40405914	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Jan 31, 2022)	criteria provided, single submitter
Select item 208468840.	NM_002225.5(IVD):c.265G>A (p.Val89Ile) GRCh37: Chr15:40700168 GRCh38: Chr15:40407969	IVD	V59I, V89I, V73I, V118I	Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 208337441.	NM_002225.5(IVD):c.1030G>A (p.Ala344Thr) GRCh37: Chr15:40708346 GRCh38: Chr15:40416147	IVD	A314T, A328T, A373T, A344T	Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 208137942.	NM_002225.5(IVD):c.25G>T (p.Gly9Trp) GRCh37: Chr15:40698053 GRCh38: Chr15:40405852	IVD	G9W	Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 208019343.	NM_002225.5(IVD):c.1155C>T (p.Ile385=) GRCh37: Chr15:40710345 GRCh38: Chr15:40418146	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 207628844.	NM_002225.5(IVD):c.1242C>G (p.Ile414Met) GRCh37: Chr15:40710432 GRCh38: Chr15:40418233	IVD	I384M, I443M, I398M, I414M	Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Apr 23, 2021)	criteria provided, single submitter
Select item 207326045.	NM_002225.5(IVD):c.48G>C (p.Arg16Ser) GRCh37: Chr15:40698076 GRCh38: Chr15:40405875	IVD	R16S	Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Dec 3, 2021)	criteria provided, single submitter
Select item 207189346.	NM_002225.5(IVD):c.817G>A (p.Val273Ile) GRCh37: Chr15:40707120 GRCh38: Chr15:40414921	IVD	V273I, V302I, V243I, V257I	Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Jun 18, 2021)	criteria provided, single submitter
Select item 206905947.	NM_002225.5(IVD):c.177G>A (p.Glu59=) GRCh37: Chr15:40699869 GRCh38: Chr15:40407668	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Jan 1, 2022)	criteria provided, single submitter
Select item 206379948.	NM_002225.5(IVD):c.452C>G (p.Pro151Arg) GRCh37: Chr15:40702992 GRCh38: Chr15:40410793	IVD	P121R, P151R, P180R, P135R	Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 206060049.	NM_002225.5(IVD):c.646G>A (p.Val216Met) GRCh37: Chr15:40703849 GRCh38: Chr15:40411650	IVD	V200M, V245M, V186M, V216M	Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 205833550.	NM_002225.5(IVD):c.462C>A (p.Ile154=) GRCh37: Chr15:40703464 GRCh38: Chr15:40411265	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 204786251.	NM_002225.5(IVD):c.641C>T (p.Ala214Val) GRCh37: Chr15:40703844 GRCh38: Chr15:40411645	IVD	A198V, A184V, A214V, A243V	Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 203572852.	NM_002225.5(IVD):c.69C>T (p.Gly23=) GRCh37: Chr15:40698097 GRCh38: Chr15:40405896	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Dec 6, 2021)	criteria provided, single submitter
Select item 203231553.	NM_002225.5(IVD):c.990C>T (p.Tyr330=) GRCh37: Chr15:40708306 GRCh38: Chr15:40416107	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 202788854.	NM_002225.5(IVD):c.145-9T>C GRCh37: Chr15:40699828 GRCh38: Chr15:40407627	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 202644855.	NM_002225.5(IVD):c.1139-4G>A GRCh37: Chr15:40710325 GRCh38: Chr15:40418126	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 202624056.	NM_002225.5(IVD):c.232C>A (p.Arg78=) GRCh37: Chr15:40699924 GRCh38: Chr15:40407723	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 201778257.	NM_002225.5(IVD):c.270G>A (p.Leu90=) GRCh37: Chr15:40700173 GRCh38: Chr15:40407974	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 201677458.	NM_002225.5(IVD):c.804T>C (p.His268=) GRCh37: Chr15:40707107 GRCh38: Chr15:40414908	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 200415759.	NM_002225.5(IVD):c.339G>A (p.Glu113=) GRCh37: Chr15:40702879 GRCh38: Chr15:40410680	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 200009860.	NM_002225.5(IVD):c.6G>T (p.Ala2=) GRCh37: Chr15:40698034 GRCh38: Chr15:40405833	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Jan 24, 2022)	criteria provided, single submitter
Select item 199937561.	NM_002225.5(IVD):c.1066-20A>G GRCh37: Chr15:40708469 GRCh38: Chr15:40416270	IVD		Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 198956662.	NM_002225.5(IVD):c.961-16A>G GRCh37: Chr15:40708261 GRCh38: Chr15:40416062	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 198059463.	NM_002225.5(IVD):c.738G>A (p.Arg246=) GRCh37: Chr15:40705240 GRCh38: Chr15:40413041	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Mar 6, 2022)	criteria provided, single submitter
Select item 197895964.	NM_002225.5(IVD):c.1188T>C (p.Asp396=) GRCh37: Chr15:40710378 GRCh38: Chr15:40418179	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 197803565.	NM_002225.5(IVD):c.415C>T (p.Arg139Cys) GRCh37: Chr15:40702955 GRCh38: Chr15:40410756	IVD	R123C, R139C, R109C, R168C	Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 197785966.	NM_002225.5(IVD):c.591T>C (p.Thr197=) GRCh37: Chr15:40703794 GRCh38: Chr15:40411595	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Dec 22, 2021)	criteria provided, single submitter
Select item 197492867.	NM_002225.5(IVD):c.821A>G (p.Tyr274Cys) GRCh37: Chr15:40707124 GRCh38: Chr15:40414925	IVD	Y244C, Y258C, Y274C, Y303C	Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 197467568.	NM_002225.5(IVD):c.789C>T (p.Ala263=) GRCh37: Chr15:40707092 GRCh38: Chr15:40414893	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 196814869.	NM_002225.5(IVD):c.864C>G (p.Ala288=) GRCh37: Chr15:40707167 GRCh38: Chr15:40414968	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Jan 6, 2022)	criteria provided, single submitter
Select item 196663470.	NM_002225.5(IVD):c.229C>G (p.Leu77Val) GRCh37: Chr15:40699921 GRCh38: Chr15:40407720	IVD	L77V, L61V	Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 195884071.	NM_002225.5(IVD):c.457-3C>T GRCh37: Chr15:40703456 GRCh38: Chr15:40411257	IVD		Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 195807472.	NM_002225.5(IVD):c.633A>C (p.Thr211=) GRCh37: Chr15:40703836 GRCh38: Chr15:40411637	IVD		Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 195450873.	NM_002225.5(IVD):c.1071T>G (p.Cys357Trp) GRCh37: Chr15:40708494 GRCh38: Chr15:40416295	IVD	C327W, C386W, C341W, C357W	Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 195276174.	NM_002225.5(IVD):c.2T>C (p.Met1Thr) GRCh37: Chr15:40698030 GRCh38: Chr15:40405829	IVD	M1T	Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 195177375.	NM_002225.5(IVD):c.287-12C>T GRCh37: Chr15:40702815 GRCh38: Chr15:40410616	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 194728076.	NM_002225.5(IVD):c.688G>T (p.Gly230Cys) GRCh37: Chr15:40705190 GRCh38: Chr15:40412991	IVD	G230C, G200C, G259C, G214C	Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 194566877.	NM_002225.5(IVD):c.612C>T (p.Val204=) GRCh37: Chr15:40703815 GRCh38: Chr15:40411616	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 193254878.	NM_002225.5(IVD):c.287-10C>T GRCh37: Chr15:40702817 GRCh38: Chr15:40410618	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Apr 17, 2022)	criteria provided, single submitter
Select item 192840379.	NM_002225.5(IVD):c.507A>G (p.Ala169=) GRCh37: Chr15:40703509 GRCh38: Chr15:40411310	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 191857180.	NM_002225.5(IVD):c.59C>T (p.Pro20Leu) GRCh37: Chr15:40698087 GRCh38: Chr15:40405886	IVD	P20L	Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 191470881.	NM_002225.5(IVD):c.419A>G (p.Asn140Ser) GRCh37: Chr15:40702959 GRCh38: Chr15:40410760	IVD	N110S, N140S, N124S, N169S	Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 190710982.	NM_002225.5(IVD):c.300C>T (p.Gly100=) GRCh37: Chr15:40702840 GRCh38: Chr15:40410641	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 190557783.	NM_002225.5(IVD):c.387C>T (p.His129=) GRCh37: Chr15:40702927 GRCh38: Chr15:40410728	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Dec 25, 2021)	criteria provided, single submitter
Select item 190162484.	NM_002225.5(IVD):c.1138+10C>A GRCh37: Chr15:40708571 GRCh38: Chr15:40416372	IVD		Isovaleryl-CoA dehydrogenase deficiency	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 172652885.	NM_002225.5(IVD):c.640_641del (p.Ala214fs) GRCh37: Chr15:40703843-40703844 GRCh38: Chr15:40411644-40411645	IVD	A184fs, A198fs, A214fs, A243fs	Isovaleryl-CoA dehydrogenase deficiency	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 172622586.	NM_002225.5(IVD):c.439G>T (p.Glu147Ter) GRCh37: Chr15:40702979 GRCh38: Chr15:40410780	IVD	E117, E131, E147, E176	Isovaleryl-CoA dehydrogenase deficiency	Likely pathogenic (May 27, 2022)	criteria provided, single submitter
Select item 172605187.	NM_002225.5(IVD):c.433C>T (p.Gln145Ter) GRCh37: Chr15:40702973 GRCh38: Chr15:40410774	IVD	Q115, Q129, Q145, Q174	Isovaleryl-CoA dehydrogenase deficiency	Likely pathogenic (May 13, 2022)	criteria provided, single submitter
Select item 172599788.	NM_002225.5(IVD):c.272del (p.Gly91fs) GRCh37: Chr15:40700173 GRCh38: Chr15:40407974	IVD	G120fs, G61fs, G75fs, G91fs	Isovaleryl-CoA dehydrogenase deficiency	Likely pathogenic (May 1, 2022)	criteria provided, single submitter
Select item 172562889.	NM_002225.5(IVD):c.263del (p.Gly88fs) GRCh37: Chr15:40700164 GRCh38: Chr15:40407965	IVD	G117fs, G58fs, G72fs, G88fs	Isovaleryl-CoA dehydrogenase deficiency	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172536290.	NM_002225.5(IVD):c.546_547delinsT (p.Lys182fs) GRCh37: Chr15:40703548-40703549 GRCh38: Chr15:40411349-40411350	IVD	K152fs, K166fs, K182fs, K211fs	Isovaleryl-CoA dehydrogenase deficiency	Likely pathogenic (Mar 17, 2022)	criteria provided, single submitter
Select item 172513891.	NM_002225.5(IVD):c.813_814insAGACA (p.Gly272fs) GRCh37: Chr15:40707116-40707117 GRCh38: Chr15:40414917-40414918	IVD	G242fs, G256fs, G272fs, G301fs	Isovaleryl-CoA dehydrogenase deficiency	Likely pathogenic (Mar 9, 2022)	criteria provided, single submitter
Select item 172485292.	NM_002225.5(IVD):c.693dup (p.Pro232fs) GRCh37: Chr15:40705194-40705195 GRCh38: Chr15:40412995-40412996	IVD	P202fs, P216fs, P232fs, P261fs	Isovaleryl-CoA dehydrogenase deficiency	Likely pathogenic (Mar 1, 2022)	criteria provided, single submitter
Select item 172480793.	NM_002225.5(IVD):c.442A>T (p.Lys148Ter) GRCh37: Chr15:40702982 GRCh38: Chr15:40410783	IVD	K118, K132, K148, K177	Isovaleryl-CoA dehydrogenase deficiency	Likely pathogenic (Feb 28, 2022)	criteria provided, single submitter
Select item 172464594.	NM_002225.5(IVD):c.715A>T (p.Lys239Ter) GRCh37: Chr15:40705217 GRCh38: Chr15:40413018	IVD	K209, K223, K239, K268	Isovaleryl-CoA dehydrogenase deficiency	Likely pathogenic (Feb 24, 2022)	criteria provided, single submitter
Select item 172429295.	NM_002225.5(IVD):c.958C>T (p.Gln320Ter) GRCh37: Chr15:40707679 GRCh38: Chr15:40415480	IVD	Q290, Q304, Q320, Q349	Isovaleryl-CoA dehydrogenase deficiency	Likely pathogenic (Feb 5, 2022)	criteria provided, single submitter
Select item 172395896.	NM_002225.5(IVD):c.634_635del (p.Asp212fs) GRCh37: Chr15:40703836-40703837 GRCh38: Chr15:40411637-40411638	IVD	D182fs, D196fs, D212fs, D241fs	Isovaleryl-CoA dehydrogenase deficiency	Likely pathogenic (Jan 15, 2022)	criteria provided, single submitter
Select item 172131497.	NM_002225.5(IVD):c.853C>G (p.Leu285Val) GRCh37: Chr15:40707156 GRCh38: Chr15:40414957	IVD	L255V, L269V, L285V, L314V	Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 171367398.	NM_002225.5(IVD):c.71T>C (p.Phe24Ser) GRCh37: Chr15:40698099 GRCh38: Chr15:40405898	IVD	F24S	Isovaleryl-CoA dehydrogenase deficiency	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 170700599.	NM_002225.5(IVD):c.492G>A (p.Met164Ile) GRCh37: Chr15:40703494 GRCh38: Chr15:40411295	IVD	M134I, M148I, M164I, M193I	Isovaleryl-CoA dehydrogenase deficiency, not provided	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1705327100.	NM_002225.5(IVD):c.127dup (p.Ser43fs) GRCh37: Chr15:40698153-40698154 GRCh38: Chr15:40405952-40405953	IVD	S43fs	Isovaleryl-CoA dehydrogenase deficiency	Pathogenic (Sep 1, 2022)	criteria provided, single submitter

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