ClinVar for MedGen (Select 355966) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 279

<< First< Prev

Page of 3

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25855961.	NM_014297.5(ETHE1):c.461del (p.Asp154fs) GRCh37: Chr19:44015633 GRCh38: Chr19:43511481	ETHE1	D31fs, D143fs, D154fs, D56fs	Ethylmalonic encephalopathy	Likely pathogenic	criteria provided, single submitter
Select item 24441612.	NM_014297.5(ETHE1):c.530C>T (p.Ser177Leu) GRCh37: Chr19:44012992 GRCh38: Chr19:43508840	ETHE1	S166L, S177L, S54L, S79L	Ethylmalonic encephalopathy	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24401143.	NM_014297.5(ETHE1):c.227-2A>C GRCh37: Chr19:44030503 GRCh38: Chr19:43526351	ETHE1		Ethylmalonic encephalopathy	Likely pathogenic (Nov 30, 2021)	criteria provided, single submitter
Select item 24259364.	NC_000019.9:g.(?_44011002)_(45213778_?)dup GRCh37: Chr19:44011002-45213778	ZNF229, ZNF230, ZNF233, ZNF234, ZNF575, ZNF576, ZNF235, ZNF283, ZNF284, ZNF285, ZNF404, ZNF428, ZNF45, KCNN4, LYPD5, PINLYP, PLAUR, PVR, SMG9, SRRM5, XRCC1, ZNF112, ZNF155, ZNF180, ZNF221, ZNF222, ZNF223, ZNF224, ZNF225, ZNF226, ZNF227, CADM4, CEACAM16, CEACAM19, CEACAM20, ETHE1, IGSF23, IRGC, IRGQ		Ethylmalonic encephalopathy	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 24201525.	NM_014297.5(ETHE1):c.81+1G>T GRCh37: Chr19:44031248 GRCh38: Chr19:43527096	ETHE1		Ethylmalonic encephalopathy	Likely pathogenic (Dec 23, 2021)	criteria provided, single submitter
Select item 21945526.	NM_014297.5(ETHE1):c.762C>T (p.Ala254=) GRCh37: Chr19:44011005 GRCh38: Chr19:43506853	ETHE1		Ethylmalonic encephalopathy	Likely benign (Jun 11, 2022)	criteria provided, single submitter
Select item 21854487.	NM_014297.5(ETHE1):c.624G>A (p.Glu208=) GRCh37: Chr19:44012184 GRCh38: Chr19:43508032	ETHE1		Ethylmalonic encephalopathy	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 21692758.	NM_014297.5(ETHE1):c.713-7C>T GRCh37: Chr19:44011061 GRCh38: Chr19:43506909	ETHE1		Ethylmalonic encephalopathy	Likely benign (Jun 18, 2022)	criteria provided, single submitter
Select item 21683299.	NM_014297.5(ETHE1):c.551C>A (p.Thr184Lys) GRCh37: Chr19:44012971 GRCh38: Chr19:43508819	ETHE1	T86K, T173K, T184K, T61K	Ethylmalonic encephalopathy	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 216375210.	NM_014297.5(ETHE1):c.588T>C (p.Asp196=) GRCh37: Chr19:44012934 GRCh38: Chr19:43508782	ETHE1		Ethylmalonic encephalopathy	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 216114911.	NM_014297.5(ETHE1):c.261C>T (p.Gly87=) GRCh37: Chr19:44030467 GRCh38: Chr19:43526315	ETHE1		Ethylmalonic encephalopathy	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 215983912.	NM_014297.5(ETHE1):c.391G>A (p.Ala131Thr) GRCh37: Chr19:44015703 GRCh38: Chr19:43511551	ETHE1	A33T, A131T, A8T, A120T	Ethylmalonic encephalopathy	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 215887913.	NM_014297.5(ETHE1):c.289G>C (p.Gly97Arg) GRCh37: Chr19:44030439 GRCh38: Chr19:43526287	ETHE1	G97R, G86R	Ethylmalonic encephalopathy	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 215574014.	NM_014297.5(ETHE1):c.24C>T (p.Val8=) GRCh37: Chr19:44031306 GRCh38: Chr19:43527154	ETHE1		Ethylmalonic encephalopathy	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 215231915.	NM_014297.5(ETHE1):c.2T>A (p.Met1Lys) GRCh37: Chr19:44031328 GRCh38: Chr19:43527176	ETHE1, LOC130064595	M1K	Ethylmalonic encephalopathy	Pathogenic (Mar 5, 2022)	criteria provided, single submitter
Select item 215231816.	NM_014297.5(ETHE1):c.608C>T (p.Ser203Phe) GRCh37: Chr19:44012200 GRCh38: Chr19:43508048	ETHE1	S203F, S105F, S192F, S80F	Ethylmalonic encephalopathy	Likely pathogenic (Oct 29, 2022)	criteria provided, single submitter
Select item 214299217.	NM_014297.5(ETHE1):c.227-17C>T GRCh37: Chr19:44030518 GRCh38: Chr19:43526366	ETHE1		Ethylmalonic encephalopathy	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 214259518.	NM_014297.5(ETHE1):c.612C>T (p.Thr204=) GRCh37: Chr19:44012196 GRCh38: Chr19:43508044	ETHE1		Ethylmalonic encephalopathy	Likely benign (Dec 7, 2021)	criteria provided, single submitter
Select item 213201519.	NM_014297.5(ETHE1):c.81+7del GRCh37: Chr19:44031242 GRCh38: Chr19:43527090	ETHE1		Ethylmalonic encephalopathy	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 213068920.	NC_000019.10:g.43527263_43527264delinsAA GRCh37: Chr19:44031415-44031416 GRCh38: Chr19:43527263-43527264	ETHE1, LOC130064595		Ethylmalonic encephalopathy	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 212912121.	NM_014297.5(ETHE1):c.376-4C>T GRCh37: Chr19:44015722 GRCh38: Chr19:43511570	ETHE1		Ethylmalonic encephalopathy	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 212756422.	NM_014297.5(ETHE1):c.675C>A (p.Ile225=) GRCh37: Chr19:44012133 GRCh38: Chr19:43507981	ETHE1		Ethylmalonic encephalopathy	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 211359623.	NM_014297.5(ETHE1):c.406A>T (p.Thr136Ser) GRCh37: Chr19:44015688 GRCh38: Chr19:43511536	ETHE1	T38S, T125S, T136S, T13S	Ethylmalonic encephalopathy	Likely pathogenic (Mar 18, 2022)	criteria provided, single submitter
Select item 211353624.	NM_014297.5(ETHE1):c.339C>T (p.His113=) GRCh37: Chr19:44030389 GRCh38: Chr19:43526237	ETHE1		Ethylmalonic encephalopathy	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 209673625.	NM_014297.5(ETHE1):c.81+4C>T GRCh37: Chr19:44031245 GRCh38: Chr19:43527093	ETHE1		Ethylmalonic encephalopathy	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 209667826.	NM_014297.5(ETHE1):c.117G>A (p.Leu39=) GRCh37: Chr19:44030776 GRCh38: Chr19:43526624	ETHE1		Ethylmalonic encephalopathy	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 209454327.	NM_014297.5(ETHE1):c.82-8G>C GRCh37: Chr19:44030819 GRCh38: Chr19:43526667	ETHE1		Ethylmalonic encephalopathy	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 209318128.	NM_014297.5(ETHE1):c.732C>T (p.Asn244=) GRCh37: Chr19:44011035 GRCh38: Chr19:43506883	ETHE1		Ethylmalonic encephalopathy	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 208962129.	NM_014297.5(ETHE1):c.81+10G>T GRCh37: Chr19:44031239 GRCh38: Chr19:43527087	ETHE1		Ethylmalonic encephalopathy	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 208395530.	NM_014297.5(ETHE1):c.82-16G>C GRCh37: Chr19:44030827 GRCh38: Chr19:43526675	ETHE1		Ethylmalonic encephalopathy	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 205248331.	NM_014297.5(ETHE1):c.695C>T (p.Pro232Leu) GRCh37: Chr19:44012113 GRCh38: Chr19:43507961	ETHE1	P221L, P232L, P109L, P134L	Ethylmalonic encephalopathy	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 205051232.	NM_014297.5(ETHE1):c.595+2T>A GRCh37: Chr19:44012925 GRCh38: Chr19:43508773	ETHE1		Ethylmalonic encephalopathy	Likely pathogenic (Jul 18, 2022)	criteria provided, single submitter
Select item 205038233.	NM_014297.5(ETHE1):c.278C>A (p.Ser93Tyr) GRCh37: Chr19:44030450 GRCh38: Chr19:43526298	ETHE1	S82Y, S93Y	Ethylmalonic encephalopathy	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 204837234.	NM_014297.5(ETHE1):c.377C>T (p.Ala126Val) GRCh37: Chr19:44015717 GRCh38: Chr19:43511565	ETHE1	A115V, A126V, A3V, A28V	Ethylmalonic encephalopathy	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 204017435.	NM_014297.5(ETHE1):c.621G>A (p.Glu207=) GRCh37: Chr19:44012187 GRCh38: Chr19:43508035	ETHE1		Ethylmalonic encephalopathy	Likely benign (Dec 19, 2021)	criteria provided, single submitter
Select item 203192336.	NM_014297.5(ETHE1):c.207G>C (p.Gly69=) GRCh37: Chr19:44030686 GRCh38: Chr19:43526534	ETHE1		Ethylmalonic encephalopathy	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 202192637.	NM_014297.5(ETHE1):c.141G>A (p.Glu47=) GRCh37: Chr19:44030752 GRCh38: Chr19:43526600	ETHE1		Ethylmalonic encephalopathy	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 201516338.	NM_014297.5(ETHE1):c.343G>C (p.Glu115Gln) GRCh37: Chr19:44030385 GRCh38: Chr19:43526233	ETHE1	E115Q, E104Q	Ethylmalonic encephalopathy	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 201236939.	NM_014297.5(ETHE1):c.448_469dup (p.Leu157fs) GRCh37: Chr19:44015624-44015625 GRCh38: Chr19:43511472-43511473	ETHE1	L34fs, L157fs, L146fs, L59fs	Ethylmalonic encephalopathy	Pathogenic (Jun 29, 2022)	criteria provided, single submitter
Select item 200963940.	NM_014297.5(ETHE1):c.741T>C (p.Cys247=) GRCh37: Chr19:44011026 GRCh38: Chr19:43506874	ETHE1		Ethylmalonic encephalopathy	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 199853841.	NM_014297.5(ETHE1):c.396C>T (p.Ser132=) GRCh37: Chr19:44015698 GRCh38: Chr19:43511546	ETHE1		Ethylmalonic encephalopathy	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 199264642.	NM_014297.5(ETHE1):c.285C>G (p.Leu95=) GRCh37: Chr19:44030443 GRCh38: Chr19:43526291	ETHE1		Ethylmalonic encephalopathy	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 198956343.	NM_014297.5(ETHE1):c.11C>T (p.Ala4Val) GRCh37: Chr19:44031319 GRCh38: Chr19:43527167	ETHE1, LOC130064595	A4V	Ethylmalonic encephalopathy	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 198328744.	NM_014297.5(ETHE1):c.513C>T (p.Ala171=) GRCh37: Chr19:44013009 GRCh38: Chr19:43508857	ETHE1		Ethylmalonic encephalopathy	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 196582345.	NM_014297.5(ETHE1):c.663G>A (p.Glu221=) GRCh37: Chr19:44012145 GRCh38: Chr19:43507993	ETHE1		Ethylmalonic encephalopathy	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 196565246.	NM_014297.5(ETHE1):c.495C>A (p.Asp165Glu) GRCh37: Chr19:44015599 GRCh38: Chr19:43511447	ETHE1	D154E, D42E, D165E, D67E	Ethylmalonic encephalopathy	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 195403747.	NM_014297.5(ETHE1):c.82-9C>T GRCh37: Chr19:44030820 GRCh38: Chr19:43526668	ETHE1		Ethylmalonic encephalopathy	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 194760448.	NM_014297.5(ETHE1):c.544A>G (p.Ile182Val) GRCh37: Chr19:44012978 GRCh38: Chr19:43508826	ETHE1	I84V, I182V, I59V, I171V	Ethylmalonic encephalopathy	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 194484149.	NM_014297.5(ETHE1):c.376-12C>A GRCh37: Chr19:44015730 GRCh38: Chr19:43511578	ETHE1		Ethylmalonic encephalopathy	Likely benign (Jul 28, 2022)	criteria provided, single submitter
Select item 194182750.	NM_014297.5(ETHE1):c.43del (p.Gln15fs) GRCh37: Chr19:44031287 GRCh38: Chr19:43527135	ETHE1	Q15fs	Ethylmalonic encephalopathy	Pathogenic (Aug 20, 2022)	criteria provided, single submitter
Select item 193916351.	NM_014297.5(ETHE1):c.306C>T (p.Ile102=) GRCh37: Chr19:44030422 GRCh38: Chr19:43526270	ETHE1		Ethylmalonic encephalopathy	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 193667552.	NM_014297.5(ETHE1):c.596-1G>A GRCh37: Chr19:44012213 GRCh38: Chr19:43508061	ETHE1		Ethylmalonic encephalopathy	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 193338853.	NM_014297.5(ETHE1):c.637C>T (p.Pro213Ser) GRCh37: Chr19:44012171 GRCh38: Chr19:43508019	ETHE1	P202S, P213S, P90S, P115S	Ethylmalonic encephalopathy	Uncertain significance (Dec 22, 2021)	criteria provided, single submitter
Select item 193179254.	NM_014297.5(ETHE1):c.505+8G>A GRCh37: Chr19:44015581 GRCh38: Chr19:43511429	ETHE1		Ethylmalonic encephalopathy	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 190780755.	NM_014297.5(ETHE1):c.215T>C (p.Leu72Pro) GRCh37: Chr19:44030678 GRCh38: Chr19:43526526	ETHE1	L72P	Ethylmalonic encephalopathy	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 180561456.	NM_014297.5(ETHE1):c.236A>T (p.His79Leu) GRCh37: Chr19:44030492 GRCh38: Chr19:43526340	ETHE1	H79L	Ethylmalonic encephalopathy	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 180182757.	NM_014297.5(ETHE1):c.717del (p.Phe239fs) GRCh37: Chr19:44011050 GRCh38: Chr19:43506898	ETHE1	F116fs, F141fs, F228fs, F239fs	Ethylmalonic encephalopathy	Likely pathogenic	criteria provided, single submitter
Select item 172333558.	NC_000019.9:g.(?_44010870)_(44013017_44015588)del GRCh37: Chr19:44010870-44015588	ETHE1		Ethylmalonic encephalopathy	Likely pathogenic (Oct 18, 2022)	criteria provided, single submitter
Select item 172242759.	NM_014297.5(ETHE1):c.702_703del (p.Gln235fs) GRCh37: Chr19:44012105-44012106 GRCh38: Chr19:43507953-43507954	ETHE1	Q112fs, Q137fs, Q224fs, Q235fs	Ethylmalonic encephalopathy	Likely pathogenic (Dec 12, 2022)	criteria provided, single submitter
Select item 170978060.	NM_014297.5(ETHE1):c.622G>A (p.Glu208Lys) GRCh37: Chr19:44012186 GRCh38: Chr19:43508034	ETHE1	E110K, E197K, E208K, E85K	Ethylmalonic encephalopathy	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 168365961.	NM_014297.5(ETHE1):c.245C>A (p.Ala82Glu) GRCh37: Chr19:44030483 GRCh38: Chr19:43526331	ETHE1	A82E	Ethylmalonic encephalopathy, Inborn genetic diseases	Uncertain significance (Aug 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 166551062.	NM_014297.5(ETHE1):c.309C>T (p.Ser103=) GRCh37: Chr19:44030419 GRCh38: Chr19:43526267	ETHE1		Ethylmalonic encephalopathy	Likely benign (Oct 27, 2021)	criteria provided, single submitter
Select item 166269463.	NM_014297.5(ETHE1):c.402C>T (p.Gly134=) GRCh37: Chr19:44015692 GRCh38: Chr19:43511540	ETHE1		Ethylmalonic encephalopathy	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 165641464.	NM_014297.5(ETHE1):c.645C>T (p.Leu215=) GRCh37: Chr19:44012163 GRCh38: Chr19:43508011	ETHE1		Ethylmalonic encephalopathy	Likely benign (Oct 28, 2022)	criteria provided, single submitter
Select item 165637265.	NM_014297.5(ETHE1):c.417T>C (p.Cys139=) GRCh37: Chr19:44015677 GRCh38: Chr19:43511525	ETHE1		Ethylmalonic encephalopathy	Likely benign (May 6, 2021)	criteria provided, single submitter
Select item 165635166.	NM_014297.5(ETHE1):c.411A>G (p.Pro137=) GRCh37: Chr19:44015683 GRCh38: Chr19:43511531	ETHE1		Ethylmalonic encephalopathy	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 165593767.	NM_014297.5(ETHE1):c.506-4C>G GRCh37: Chr19:44013020 GRCh38: Chr19:43508868	ETHE1		Ethylmalonic encephalopathy	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 165281268.	NM_014297.5(ETHE1):c.506-10C>T GRCh37: Chr19:44013026 GRCh38: Chr19:43508874	ETHE1		Ethylmalonic encephalopathy	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 165281169.	NM_014297.5(ETHE1):c.168A>G (p.Glu56=) GRCh37: Chr19:44030725 GRCh38: Chr19:43526573	ETHE1		Ethylmalonic encephalopathy	Likely benign (Nov 17, 2020)	criteria provided, single submitter
Select item 165231970.	NM_014297.5(ETHE1):c.246G>T (p.Ala82=) GRCh37: Chr19:44030482 GRCh38: Chr19:43526330	ETHE1		Ethylmalonic encephalopathy	Likely benign (Apr 23, 2021)	criteria provided, single submitter
Select item 164482971.	NM_014297.5(ETHE1):c.595+19A>G GRCh37: Chr19:44012908 GRCh38: Chr19:43508756	ETHE1		Ethylmalonic encephalopathy	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 164109772.	NM_014297.5(ETHE1):c.227-12TC[2] GRCh37: Chr19:44030506-44030509 GRCh38: Chr19:43526354-43526357	ETHE1		Ethylmalonic encephalopathy	Likely benign (Mar 23, 2021)	criteria provided, single submitter
Select item 163607473.	NM_014297.5(ETHE1):c.108C>T (p.Phe36=) GRCh37: Chr19:44030785 GRCh38: Chr19:43526633	ETHE1		Ethylmalonic encephalopathy	Likely benign (Oct 31, 2021)	criteria provided, single submitter
Select item 163355474.	NM_014297.5(ETHE1):c.376-7C>T GRCh37: Chr19:44015725 GRCh38: Chr19:43511573	ETHE1		Ethylmalonic encephalopathy	Likely benign (Jan 1, 2022)	criteria provided, single submitter
Select item 163236475.	NM_014297.5(ETHE1):c.227-12TC[5] GRCh37: Chr19:44030505-44030506 GRCh38: Chr19:43526353-43526354	ETHE1		Ethylmalonic encephalopathy	Likely benign (Feb 10, 2021)	criteria provided, single submitter
Select item 162749376.	NM_014297.5(ETHE1):c.633G>A (p.Leu211=) GRCh37: Chr19:44012175 GRCh38: Chr19:43508023	ETHE1		Ethylmalonic encephalopathy	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 162664477.	NM_014297.5(ETHE1):c.144C>T (p.Ala48=) GRCh37: Chr19:44030749 GRCh38: Chr19:43526597	ETHE1		Ethylmalonic encephalopathy	Likely benign (Jun 7, 2022)	criteria provided, single submitter
Select item 162542378.	NM_014297.5(ETHE1):c.264G>C (p.Ser88=) GRCh37: Chr19:44030464 GRCh38: Chr19:43526312	ETHE1		Ethylmalonic encephalopathy	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 161545779.	NM_014297.5(ETHE1):c.762C>A (p.Ala254=) GRCh37: Chr19:44011005 GRCh38: Chr19:43506853	ETHE1		Ethylmalonic encephalopathy	Likely benign (Nov 5, 2021)	criteria provided, single submitter
Select item 161176180.	NM_014297.5(ETHE1):c.759T>C (p.Thr253=) GRCh37: Chr19:44011008 GRCh38: Chr19:43506856	ETHE1		Ethylmalonic encephalopathy	Likely benign (Oct 22, 2021)	criteria provided, single submitter
Select item 160975581.	NM_014297.5(ETHE1):c.543G>A (p.Lys181=) GRCh37: Chr19:44012979 GRCh38: Chr19:43508827	ETHE1		Ethylmalonic encephalopathy	Likely benign (Nov 1, 2020)	criteria provided, single submitter
Select item 160788682.	NM_014297.5(ETHE1):c.423C>T (p.Thr141=) GRCh37: Chr19:44015671 GRCh38: Chr19:43511519	ETHE1		Ethylmalonic encephalopathy	Likely benign (Sep 15, 2021)	criteria provided, single submitter
Select item 160674883.	NM_014297.5(ETHE1):c.595+10T>C GRCh37: Chr19:44012917 GRCh38: Chr19:43508765	ETHE1		Ethylmalonic encephalopathy	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 160615984.	NM_014297.5(ETHE1):c.759T>G (p.Thr253=) GRCh37: Chr19:44011008 GRCh38: Chr19:43506856	ETHE1		Ethylmalonic encephalopathy	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 160589585.	NM_014297.5(ETHE1):c.405C>T (p.His135=) GRCh37: Chr19:44015689 GRCh38: Chr19:43511537	ETHE1		Ethylmalonic encephalopathy	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 160530986.	NM_014297.5(ETHE1):c.210G>C (p.Leu70=) GRCh37: Chr19:44030683 GRCh38: Chr19:43526531	ETHE1		Ethylmalonic encephalopathy	Likely benign (Sep 17, 2021)	criteria provided, single submitter
Select item 159273987.	NM_014297.5(ETHE1):c.227-9C>T GRCh37: Chr19:44030510 GRCh38: Chr19:43526358	ETHE1		Ethylmalonic encephalopathy	Likely benign (Dec 26, 2020)	criteria provided, single submitter
Select item 157892088.	NM_014297.5(ETHE1):c.243C>T (p.His81=) GRCh37: Chr19:44030485 GRCh38: Chr19:43526333	ETHE1		Ethylmalonic encephalopathy	Likely benign (Nov 3, 2020)	criteria provided, single submitter
Select item 157527389.	NM_014297.5(ETHE1):c.375+10G>A GRCh37: Chr19:44030343 GRCh38: Chr19:43526191	ETHE1		Ethylmalonic encephalopathy	Likely benign (Aug 19, 2021)	criteria provided, single submitter
Select item 157311790.	NM_014297.5(ETHE1):c.82-9del GRCh37: Chr19:44030820 GRCh38: Chr19:43526668	ETHE1		Ethylmalonic encephalopathy	Benign (Aug 5, 2022)	criteria provided, single submitter
Select item 157011391.	NM_014297.5(ETHE1):c.552A>C (p.Thr184=) GRCh37: Chr19:44012970 GRCh38: Chr19:43508818	ETHE1		Ethylmalonic encephalopathy	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 156930292.	NM_014297.5(ETHE1):c.81+13G>A GRCh37: Chr19:44031236 GRCh38: Chr19:43527084	ETHE1		Ethylmalonic encephalopathy	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 156764093.	NM_014297.5(ETHE1):c.430C>T (p.Leu144=) GRCh37: Chr19:44015664 GRCh38: Chr19:43511512	ETHE1		Ethylmalonic encephalopathy	Likely benign (Jun 30, 2021)	criteria provided, single submitter
Select item 156634394.	NM_014297.5(ETHE1):c.90G>A (p.Glu30=) GRCh37: Chr19:44030803 GRCh38: Chr19:43526651	ETHE1		Ethylmalonic encephalopathy	Likely benign (Aug 17, 2021)	criteria provided, single submitter
Select item 156507495.	NM_014297.5(ETHE1):c.227-11C>G GRCh37: Chr19:44030512 GRCh38: Chr19:43526360	ETHE1		Ethylmalonic encephalopathy	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 156055496.	NM_014297.5(ETHE1):c.540A>G (p.Glu180=) GRCh37: Chr19:44012982 GRCh38: Chr19:43508830	ETHE1		Ethylmalonic encephalopathy	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 155639297.	NM_014297.5(ETHE1):c.595+7G>T GRCh37: Chr19:44012920 GRCh38: Chr19:43508768	ETHE1		Ethylmalonic encephalopathy	Likely benign (Sep 29, 2021)	criteria provided, single submitter
Select item 154944198.	NM_014297.5(ETHE1):c.192G>A (p.Leu64=) GRCh37: Chr19:44030701 GRCh38: Chr19:43526549	ETHE1		Ethylmalonic encephalopathy	Likely benign (Apr 10, 2021)	criteria provided, single submitter
Select item 154453899.	NM_014297.5(ETHE1):c.376-6del GRCh37: Chr19:44015724 GRCh38: Chr19:43511572	ETHE1		Ethylmalonic encephalopathy	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 1543064100.	NM_014297.5(ETHE1):c.207G>T (p.Gly69=) GRCh37: Chr19:44030686 GRCh38: Chr19:43526534	ETHE1		Ethylmalonic encephalopathy	Likely benign (Feb 17, 2022)	criteria provided, single submitter

<< First< Prev

Page of 3