ClinVar for MedGen (Select 1680582) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 22011681.	NM_021267.5(CERS1):c.951G>A (p.Leu317=) GRCh37: Chr19:18989798 GRCh38: Chr19:18878989	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 22008292.	NM_021267.5(CERS1):c.39C>G (p.Pro13=) GRCh37: Chr19:19006843 GRCh38: Chr19:18896034	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 21995093.	NM_021267.5(CERS1):c.192G>T (p.Ala64=) GRCh37: Chr19:19006690 GRCh38: Chr19:18895881	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 21993134.	NM_021267.5(CERS1):c.846C>T (p.Phe282=) GRCh37: Chr19:18990104 GRCh38: Chr19:18879295	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 21951615.	NM_021267.5(CERS1):c.249+7G>A GRCh37: Chr19:19006626 GRCh38: Chr19:18895817	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 21835896.	NM_021267.5(CERS1):c.900+7C>T GRCh37: Chr19:18990043 GRCh38: Chr19:18879234	GDF1, CERS1		Progressive myoclonic epilepsy type 8	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 21646677.	NM_021267.5(CERS1):c.195C>T (p.Leu65=) GRCh37: Chr19:19006687 GRCh38: Chr19:18895878	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 21579798.	NM_021267.5(CERS1):c.250-4A>G GRCh37: Chr19:19004388 GRCh38: Chr19:18893579	GDF1, CERS1		Progressive myoclonic epilepsy type 8	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 21547769.	NM_021267.5(CERS1):c.518G>A (p.Arg173His) GRCh37: Chr19:18994968 GRCh38: Chr19:18884159	GDF1, CERS1	R173H, R75H	Progressive myoclonic epilepsy type 8	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 215244110.	NM_021267.5(CERS1):c.198C>G (p.Gly66=) GRCh37: Chr19:19006684 GRCh38: Chr19:18895875	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 215143611.	NM_021267.5(CERS1):c.37C>A (p.Pro13Thr) GRCh37: Chr19:19006845 GRCh38: Chr19:18896036	GDF1, CERS1	P13T	Progressive myoclonic epilepsy type 8	Uncertain significance (Jan 18, 2022)	criteria provided, single submitter
Select item 214464012.	NM_021267.5(CERS1):c.667A>G (p.Ile223Val) GRCh37: Chr19:18991168 GRCh38: Chr19:18880359	GDF1, CERS1	I125V, I208V, I223V	Progressive myoclonic epilepsy type 8	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 211542613.	NM_021267.5(CERS1):c.586T>A (p.Phe196Ile) GRCh37: Chr19:18994900 GRCh38: Chr19:18884091	GDF1, CERS1	F196I, F98I	Progressive myoclonic epilepsy type 8	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 209711014.	NM_021267.5(CERS1):c.1011-4C>G GRCh37: Chr19:18981432 GRCh38: Chr19:18870623	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 209403715.	NM_021267.5(CERS1):c.984C>G (p.Ala328=) GRCh37: Chr19:18989765 GRCh38: Chr19:18878956	GDF1, CERS1		Progressive myoclonic epilepsy type 8	Likely benign (Feb 15, 2022)	criteria provided, single submitter
Select item 209306316.	NM_021267.5(CERS1):c.753-3C>A GRCh37: Chr19:18990200 GRCh38: Chr19:18879391	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 209281117.	NM_021267.5(CERS1):c.250-20G>T GRCh37: Chr19:19004404 GRCh38: Chr19:18893595	GDF1, CERS1		Progressive myoclonic epilepsy type 8	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 209154518.	NM_021267.5(CERS1):c.634A>G (p.Ser212Gly) GRCh37: Chr19:18991201 GRCh38: Chr19:18880392	CERS1, GDF1	S212G, S114G	Progressive myoclonic epilepsy type 8	Uncertain significance (Feb 1, 2022)	criteria provided, single submitter
Select item 208989719.	NM_021267.5(CERS1):c.591-8T>A GRCh37: Chr19:18991252 GRCh38: Chr19:18880443	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 208369520.	NM_021267.5(CERS1):c.900+11C>T GRCh37: Chr19:18990039 GRCh38: Chr19:18879230	GDF1, CERS1		Progressive myoclonic epilepsy type 8	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 208207321.	NM_021267.5(CERS1):c.840C>T (p.Phe280=) GRCh37: Chr19:18990110 GRCh38: Chr19:18879301	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 207747422.	NM_021267.5(CERS1):c.591-10G>T GRCh37: Chr19:18991254 GRCh38: Chr19:18880445	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Jun 17, 2022)	criteria provided, single submitter
Select item 206842723.	NM_021267.5(CERS1):c.113C>A (p.Thr38Lys) GRCh37: Chr19:19006769 GRCh38: Chr19:18895960	CERS1, GDF1	T38K	Progressive myoclonic epilepsy type 8	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 206604924.	NM_021267.5(CERS1):c.15G>T (p.Gly5=) GRCh37: Chr19:19006867 GRCh38: Chr19:18896058	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 205231125.	NM_021267.5(CERS1):c.420G>A (p.Pro140=) GRCh37: Chr19:18995066 GRCh38: Chr19:18884257	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 205186126.	NM_021267.5(CERS1):c.102G>C (p.Ala34=) GRCh37: Chr19:19006780 GRCh38: Chr19:18895971	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 203772427.	NM_021267.5(CERS1):c.590+11G>C GRCh37: Chr19:18994885 GRCh38: Chr19:18884076	GDF1, CERS1		Progressive myoclonic epilepsy type 8	Likely benign (Jun 7, 2022)	criteria provided, single submitter
Select item 203394628.	NM_021267.5(CERS1):c.591-3del GRCh37: Chr19:18991247 GRCh38: Chr19:18880438	GDF1, CERS1		Progressive myoclonic epilepsy type 8	Benign (Oct 4, 2022)	criteria provided, single submitter
Select item 202650229.	NM_021267.5(CERS1):c.307G>A (p.Ala103Thr) GRCh37: Chr19:19004327 GRCh38: Chr19:18893518	CERS1, GDF1	A103T, A5T	Progressive myoclonic epilepsy type 8	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 202279230.	NM_021267.5(CERS1):c.148G>T (p.Ala50Ser) GRCh37: Chr19:19006734 GRCh38: Chr19:18895925	CERS1, GDF1	A50S	Progressive myoclonic epilepsy type 8	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 199260631.	NM_021267.5(CERS1):c.234T>A (p.Thr78=) GRCh37: Chr19:19006648 GRCh38: Chr19:18895839	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (May 10, 2022)	criteria provided, single submitter
Select item 196694732.	NM_021267.5(CERS1):c.753-18T>G GRCh37: Chr19:18990215 GRCh38: Chr19:18879406	GDF1, CERS1		Progressive myoclonic epilepsy type 8	Likely benign (Dec 31, 2021)	criteria provided, single submitter
Select item 196135433.	NM_021267.5(CERS1):c.753-4G>A GRCh37: Chr19:18990201 GRCh38: Chr19:18879392	GDF1, CERS1		Progressive myoclonic epilepsy type 8	Likely benign (Jul 9, 2022)	criteria provided, single submitter
Select item 195840834.	NM_021267.5(CERS1):c.81G>C (p.Trp27Cys) GRCh37: Chr19:19006801 GRCh38: Chr19:18895992	CERS1, GDF1	W27C	Progressive myoclonic epilepsy type 8	Uncertain significance (Dec 18, 2021)	criteria provided, single submitter
Select item 192000935.	NM_021267.5(CERS1):c.978C>T (p.Ala326=) GRCh37: Chr19:18989771 GRCh38: Chr19:18878962	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 191731536.	NM_021267.5(CERS1):c.805C>T (p.His269Tyr) GRCh37: Chr19:18990145 GRCh38: Chr19:18879336	GDF1, CERS1	H171Y, H254Y, H269Y	Progressive myoclonic epilepsy type 8	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 191274237.	NM_021267.5(CERS1):c.148G>C (p.Ala50Pro) GRCh37: Chr19:19006734 GRCh38: Chr19:18895925	CERS1, GDF1	A50P	Progressive myoclonic epilepsy type 8	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 190225738.	NM_021267.5(CERS1):c.17C>G (p.Pro6Arg) GRCh37: Chr19:19006865 GRCh38: Chr19:18896056	CERS1, GDF1	P6R	Progressive myoclonic epilepsy type 8	Uncertain significance (Mar 17, 2022)	criteria provided, single submitter
Select item 167417539.	NM_021267.5(CERS1):c.549C>T (p.His183=) GRCh37: Chr19:18994937 GRCh38: Chr19:18884128	GDF1, CERS1		Progressive myoclonic epilepsy type 8	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 167363340.	NM_021267.5(CERS1):c.410-17G>T GRCh37: Chr19:18995093 GRCh38: Chr19:18884284	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Jun 5, 2022)	criteria provided, single submitter
Select item 166430841.	NM_021267.5(CERS1):c.590+14C>T GRCh37: Chr19:18994882 GRCh38: Chr19:18884073	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 165867142.	NM_021267.5(CERS1):c.1011-16C>T GRCh37: Chr19:18981444 GRCh38: Chr19:18870635	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Sep 21, 2021)	criteria provided, single submitter
Select item 165766243.	NM_021267.5(CERS1):c.591-15C>T GRCh37: Chr19:18991259 GRCh38: Chr19:18880450	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Dec 7, 2020)	criteria provided, single submitter
Select item 165624444.	NM_021267.5(CERS1):c.156C>T (p.His52=) GRCh37: Chr19:19006726 GRCh38: Chr19:18895917	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Nov 26, 2020)	criteria provided, single submitter
Select item 165583845.	NM_021267.5(CERS1):c.171G>T (p.Pro57=) GRCh37: Chr19:19006711 GRCh38: Chr19:18895902	GDF1, CERS1		Progressive myoclonic epilepsy type 8	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 163969446.	NM_021267.5(CERS1):c.590+15G>A GRCh37: Chr19:18994881 GRCh38: Chr19:18884072	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Nov 25, 2021)	criteria provided, single submitter
Select item 163942147.	NM_021267.5(CERS1):c.1011-8del GRCh37: Chr19:18981436 GRCh38: Chr19:18870627	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Jul 2, 2021)	criteria provided, single submitter
Select item 162290548.	NM_021267.5(CERS1):c.717A>G (p.Ala239=) GRCh37: Chr19:18991118 GRCh38: Chr19:18880309	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Jul 1, 2021)	criteria provided, single submitter
Select item 162096449.	NM_021267.5(CERS1):c.990C>T (p.Ser330=) GRCh37: Chr19:18989759 GRCh38: Chr19:18878950	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Jan 13, 2022)	criteria provided, single submitter
Select item 161565150.	NM_021267.5(CERS1):c.66A>C (p.Leu22=) GRCh37: Chr19:19006816 GRCh38: Chr19:18896007	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Apr 24, 2021)	criteria provided, single submitter
Select item 160870351.	NM_021267.5(CERS1):c.900+20C>T GRCh37: Chr19:18990030 GRCh38: Chr19:18879221	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 160617152.	NM_021267.5(CERS1):c.558T>C (p.Thr186=) GRCh37: Chr19:18994928 GRCh38: Chr19:18884119	GDF1, CERS1		Progressive myoclonic epilepsy type 8	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 159581853.	NM_021267.5(CERS1):c.780G>T (p.Pro260=) GRCh37: Chr19:18990170 GRCh38: Chr19:18879361	GDF1, CERS1		Progressive myoclonic epilepsy type 8	Likely benign (Mar 1, 2021)	criteria provided, single submitter
Select item 159357754.	NM_021267.5(CERS1):c.294G>A (p.Lys98=) GRCh37: Chr19:19004340 GRCh38: Chr19:18893531	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 159339955.	NM_021267.5(CERS1):c.768C>A (p.Leu256=) GRCh37: Chr19:18990182 GRCh38: Chr19:18879373	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Dec 22, 2020)	criteria provided, single submitter
Select item 159187256.	NM_021267.5(CERS1):c.591-15C>G GRCh37: Chr19:18991259 GRCh38: Chr19:18880450	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Mar 14, 2021)	criteria provided, single submitter
Select item 158808757.	NM_021267.5(CERS1):c.1010+19G>A GRCh37: Chr19:18989720 GRCh38: Chr19:18878911	GDF1, CERS1		Progressive myoclonic epilepsy type 8	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 158766858.	NM_021267.5(CERS1):c.180G>A (p.Leu60=) GRCh37: Chr19:19006702 GRCh38: Chr19:18895893	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Nov 30, 2020)	criteria provided, single submitter
Select item 158636159.	NM_021267.5(CERS1):c.420G>C (p.Pro140=) GRCh37: Chr19:18995066 GRCh38: Chr19:18884257	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Jan 6, 2022)	criteria provided, single submitter
Select item 158575660.	NM_021267.5(CERS1):c.732C>T (p.Cys244=) GRCh37: Chr19:18991103 GRCh38: Chr19:18880294	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Apr 5, 2021)	criteria provided, single submitter
Select item 158447361.	NM_021267.5(CERS1):c.9G>A (p.Ala3=) GRCh37: Chr19:19006873 GRCh38: Chr19:18896064	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Feb 12, 2021)	criteria provided, single submitter
Select item 158435962.	NM_021267.5(CERS1):c.1010+18C>T GRCh37: Chr19:18989721 GRCh38: Chr19:18878912	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 158024563.	NM_021267.5(CERS1):c.387T>C (p.His129=) GRCh37: Chr19:19004247 GRCh38: Chr19:18893438	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Aug 26, 2021)	criteria provided, single submitter
Select item 157384864.	NM_021267.5(CERS1):c.369C>T (p.Thr123=) GRCh37: Chr19:19004265 GRCh38: Chr19:18893456	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Oct 4, 2021)	criteria provided, single submitter
Select item 157219665.	NM_021267.5(CERS1):c.1008C>T (p.Ala336=) GRCh37: Chr19:18989741 GRCh38: Chr19:18878932	GDF1, CERS1		Progressive myoclonic epilepsy type 8	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 157158166.	NM_021267.5(CERS1):c.*773G>A GRCh37: Chr19:18980021 GRCh38: Chr19:18869212	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Sep 9, 2021)	criteria provided, single submitter
Select item 157107767.	NM_021267.5(CERS1):c.978C>A (p.Ala326=) GRCh37: Chr19:18989771 GRCh38: Chr19:18878962	GDF1, CERS1		Progressive myoclonic epilepsy type 8	Likely benign (Jan 13, 2022)	criteria provided, single submitter
Select item 156862868.	NM_021267.5(CERS1):c.945C>T (p.His315=) GRCh37: Chr19:18989804 GRCh38: Chr19:18878995	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 156260969.	NM_021267.5(CERS1):c.798C>T (p.Ala266=) GRCh37: Chr19:18990152 GRCh38: Chr19:18879343	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Oct 2, 2022)	criteria provided, single submitter
Select item 155434770.	NM_021267.5(CERS1):c.816G>A (p.Leu272=) GRCh37: Chr19:18990134 GRCh38: Chr19:18879325	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 154414571.	NM_021267.5(CERS1):c.402C>A (p.Val134=) GRCh37: Chr19:19004232 GRCh38: Chr19:18893423	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Mar 25, 2021)	criteria provided, single submitter
Select item 154328272.	NM_021267.5(CERS1):c.409+7G>T GRCh37: Chr19:19004218 GRCh38: Chr19:18893409	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Dec 4, 2020)	criteria provided, single submitter
Select item 154018173.	NM_021267.5(CERS1):c.999C>T (p.Pro333=) GRCh37: Chr19:18989750 GRCh38: Chr19:18878941	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 153496474.	NM_021267.5(CERS1):c.780G>A (p.Pro260=) GRCh37: Chr19:18990170 GRCh38: Chr19:18879361	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 153359875.	NM_021267.5(CERS1):c.790C>T (p.Leu264=) GRCh37: Chr19:18990160 GRCh38: Chr19:18879351	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Apr 10, 2021)	criteria provided, single submitter
Select item 152331476.	NM_021267.5(CERS1):c.18_29del (p.3AAGP[1]) GRCh37: Chr19:19006853-19006864 GRCh38: Chr19:18896044-18896055	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 152131477.	NM_021267.5(CERS1):c.307G>T (p.Ala103Ser) GRCh37: Chr19:19004327 GRCh38: Chr19:18893518	CERS1, GDF1	A5S, A103S	Progressive myoclonic epilepsy type 8	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 151473878.	NM_021267.5(CERS1):c.263G>A (p.Arg88Gln) GRCh37: Chr19:19004371 GRCh38: Chr19:18893562	CERS1, GDF1	R88Q	Progressive myoclonic epilepsy type 8	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 151427379.	NM_021267.5(CERS1):c.349G>T (p.Ala117Ser) GRCh37: Chr19:19004285 GRCh38: Chr19:18893476	GDF1, CERS1	A19S, A117S	Inborn genetic diseases, Progressive myoclonic epilepsy type 8	Uncertain significance (Sep 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 151384280.	NM_021267.5(CERS1):c.350C>T (p.Ala117Val) GRCh37: Chr19:19004284 GRCh38: Chr19:18893475	CERS1, GDF1	A117V, A19V	Progressive myoclonic epilepsy type 8	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 151212281.	NM_021267.5(CERS1):c.82G>A (p.Gly28Ser) GRCh37: Chr19:19006800 GRCh38: Chr19:18895991	CERS1, GDF1	G28S	Progressive myoclonic epilepsy type 8	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 150391082.	NM_021267.5(CERS1):c.158C>T (p.Ala53Val) GRCh37: Chr19:19006724 GRCh38: Chr19:18895915	CERS1, GDF1	A53V	Progressive myoclonic epilepsy type 8	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 150299783.	NM_021267.5(CERS1):c.637G>A (p.Asp213Asn) GRCh37: Chr19:18991198 GRCh38: Chr19:18880389	CERS1, GDF1	D198N, D115N, D213N	Progressive myoclonic epilepsy type 8	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 149133284.	NM_021267.5(CERS1):c.901-6T>A GRCh37: Chr19:18989854 GRCh38: Chr19:18879045	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 148958385.	NM_021267.5(CERS1):c.158C>G (p.Ala53Gly) GRCh37: Chr19:19006724 GRCh38: Chr19:18895915	CERS1, GDF1	A53G	Progressive myoclonic epilepsy type 8	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 148864586.	NM_021267.5(CERS1):c.211A>G (p.Thr71Ala) GRCh37: Chr19:19006671 GRCh38: Chr19:18895862	CERS1, GDF1	T71A	Progressive myoclonic epilepsy type 8	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 148746287.	NM_021267.5(CERS1):c.725T>C (p.Leu242Ser) GRCh37: Chr19:18991110 GRCh38: Chr19:18880301	GDF1, CERS1	L144S, L227S, L242S	Progressive myoclonic epilepsy type 8	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 148377388.	NM_021267.5(CERS1):c.817C>T (p.Arg273Cys) GRCh37: Chr19:18990133 GRCh38: Chr19:18879324	GDF1, CERS1	R175C, R258C, R273C	Progressive myoclonic epilepsy type 8	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 148357089.	NM_021267.5(CERS1):c.305G>A (p.Ser102Asn) GRCh37: Chr19:19004329 GRCh38: Chr19:18893520	GDF1, CERS1	S4N, S102N	Progressive myoclonic epilepsy type 8	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 148236990.	NM_021267.5(CERS1):c.698A>G (p.His233Arg) GRCh37: Chr19:18991137 GRCh38: Chr19:18880328	CERS1, GDF1	H135R, H233R, H218R	Progressive myoclonic epilepsy type 8	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 148184091.	NM_021267.5(CERS1):c.262C>T (p.Arg88Trp) GRCh37: Chr19:19004372 GRCh38: Chr19:18893563	CERS1, GDF1	R88W	Progressive myoclonic epilepsy type 8	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 147986492.	NM_021267.5(CERS1):c.440A>G (p.Asp147Gly) GRCh37: Chr19:18995046 GRCh38: Chr19:18884237	CERS1, GDF1	D147G, D49G	Progressive myoclonic epilepsy type 8	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 147826093.	NM_021267.5(CERS1):c.410-6C>T GRCh37: Chr19:18995082 GRCh38: Chr19:18884273	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 146356794.	NM_021267.5(CERS1):c.68T>C (p.Val23Ala) GRCh37: Chr19:19006814 GRCh38: Chr19:18896005	CERS1, GDF1	V23A	Progressive myoclonic epilepsy type 8	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 146210795.	NM_021267.5(CERS1):c.1009G>C (p.Glu337Gln) GRCh37: Chr19:18989740 GRCh38: Chr19:18878931	CERS1, GDF1	E322Q, E239Q, E337Q	Progressive myoclonic epilepsy type 8	Uncertain significance (Jan 6, 2022)	criteria provided, single submitter
Select item 145999196.	NM_021267.5(CERS1):c.410-20_410-19del GRCh37: Chr19:18995095-18995096 GRCh38: Chr19:18884286-18884287	CERS1, GDF1		Progressive myoclonic epilepsy type 8	Likely benign (Mar 21, 2022)	criteria provided, single submitter
Select item 144521497.	NM_021267.5(CERS1):c.835C>A (p.Pro279Thr) GRCh37: Chr19:18990115 GRCh38: Chr19:18879306	CERS1, GDF1	P181T, P279T, P264T	Progressive myoclonic epilepsy type 8	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 144373598.	NC_000019.9:g.(?_18893725)_(19312528_?)del GRCh37: Chr19:18893725-19312528	ARMC6, BORCS8, CERS1, COMP, COPE, DDX49, GDF1, HOMER3, MEF2B, NR2C2AP, RFXANK, SLC25A42, SUGP2, TMEM161A, UPF1		Progressive myoclonic epilepsy type 8	Uncertain significance (Mar 31, 2021)	criteria provided, single submitter
Select item 144186499.	NM_021267.5(CERS1):c.974C>T (p.Thr325Ile) GRCh37: Chr19:18989775 GRCh38: Chr19:18878966	CERS1, GDF1	T227I, T325I, T310I	Progressive myoclonic epilepsy type 8	Uncertain significance (Aug 23, 2021)	criteria provided, single submitter
Select item 1441362100.	NM_021267.5(CERS1):c.319C>G (p.Leu107Val) GRCh37: Chr19:19004315 GRCh38: Chr19:18893506	CERS1, GDF1	L107V, L9V	Progressive myoclonic epilepsy type 8	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter

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