ClinVar for MedGen (Select 347006) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 1 to 100 of 153

<< First< Prev

Page of 2

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16959031.	NM_152722.5(HEPACAM):c.133G>A (p.Gly45Ser) GRCh37: Chr11:124794918 GRCh38: Chr11:124925022	HEPACAM	G45S	not provided	Uncertain significance (Feb 25, 2021)	criteria provided, single submitter
Select item 14552822.	NM_015166.4(MLC1):c.881C>T (p.Pro294Leu) GRCh37: Chr22:50506875 GRCh38: Chr22:50068446	MLC1	P260L, P242L, P264L, P215L, P294L, P275L	Megalencephalic leukoencephalopathy with subcortical cysts, not provided	Pathogenic (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13315003.	NM_015166.4(MLC1):c.251G>A (p.Arg84His) GRCh37: Chr22:50521529 GRCh38: Chr22:50083100	LOC125446261, MLC1	R5H, R84H	not provided, Megalencephalic leukoencephalopathy with subcortical cysts	Pathogenic/Likely pathogenic (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12978524.	NM_015166.4(MLC1):c.895-259G>A GRCh37: Chr22:50502886 GRCh38: Chr22:50064457	MLC1		not provided	Benign (Nov 12, 2018)	criteria provided, single submitter
Select item 12493535.	NM_015166.4(MLC1):c.895-261A>G GRCh37: Chr22:50502888 GRCh38: Chr22:50064459	MLC1		not provided	Benign (Jun 20, 2021)	criteria provided, single submitter
Select item 12408746.	NM_015166.4(MLC1):c.-59-17T>C GRCh37: Chr22:50523407 GRCh38: Chr22:50084978	MLC1		not provided	Benign (May 13, 2021)	criteria provided, single submitter
Select item 11621937.	NM_015166.4(MLC1):c.249G>T (p.Leu83Phe) GRCh37: Chr22:50521531 GRCh38: Chr22:50083102	LOC125446261, MLC1	L4F, L83F	Megalencephalic leukoencephalopathy with subcortical cysts, not provided, Megalencephalic leukoencephalopathy with subcortical cysts 1	Likely pathogenic (Jun 29, 2023)	criteria provided, multiple submitters, no conflicts
Select item 10825368.	NM_015166.4(MLC1):c.648C>A (p.Ala216=) GRCh37: Chr22:50512711 GRCh38: Chr22:50074282	MLC1		not provided	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 10809879.	NM_015166.4(MLC1):c.1071C>T (p.Ser357=) GRCh37: Chr22:50500075 GRCh38: Chr22:50061646	MLC1		not provided	Likely benign (Oct 29, 2022)	criteria provided, single submitter
Select item 106799510.	NM_015166.4(MLC1):c.423+1G>T GRCh37: Chr22:50518346 GRCh38: Chr22:50079917	MLC1		not provided	Pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 99076411.	NM_015166.4(MLC1):c.59G>A (p.Arg20Gln) GRCh37: Chr22:50523273 GRCh38: Chr22:50084844	MLC1	R20Q	Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 99076312.	NM_015166.4(MLC1):c.198G>A (p.Ser66=) GRCh37: Chr22:50521582 GRCh38: Chr22:50083153	LOC125446261, MLC1		Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 99076213.	NM_015166.4(MLC1):c.532A>G (p.Met178Val) GRCh37: Chr22:50515335 GRCh38: Chr22:50076906	MLC1	M126V, M144V, M148V, M178V, M99V	Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 99076114.	NM_015166.4(MLC1):c.991G>T (p.Val331Phe) GRCh37: Chr22:50502531 GRCh38: Chr22:50064102	MLC1	V252F, V279F, V297F, V301F, V312F, V331F	Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 99076015.	NM_015166.4(MLC1):c.1081G>A (p.Glu361Lys) GRCh37: Chr22:50500065 GRCh38: Chr22:50061636	MLC1	E282K, E309K, E327K, E331K, E342K, E361K	not provided	Uncertain significance (Mar 20, 2023)	criteria provided, single submitter
Select item 88033816.	NM_152722.5(HEPACAM):c.235G>A (p.Val79Met) GRCh37: Chr11:124794816 GRCh38: Chr11:124924920	HEPACAM	V79M	Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88024417.	NM_152722.5(HEPACAM):c.*1479T>C GRCh37: Chr11:124789555 GRCh38: Chr11:124919659	HEPACAM, HEPN1		Megalencephalic leukoencephalopathy with subcortical cysts	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88024318.	NM_152722.5(HEPACAM):c.*1634A>G GRCh37: Chr11:124789400 GRCh38: Chr11:124919504	HEPACAM, HEPN1		Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88024219.	NM_152722.5(HEPACAM):c.*1852C>T GRCh37: Chr11:124789182 GRCh38: Chr11:124919286	HEPACAM, HEPN1		Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87912920.	NM_152722.5(HEPACAM):c.469G>A (p.Val157Met) GRCh37: Chr11:124793865 GRCh38: Chr11:124923969	HEPACAM	V157M	Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87912821.	NM_152722.5(HEPACAM):c.573G>C (p.Ser191=) GRCh37: Chr11:124793761 GRCh38: Chr11:124923865	HEPACAM		Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87907522.	NM_152722.5(HEPACAM):c.*342G>A GRCh37: Chr11:124790692 GRCh38: Chr11:124920796	HEPACAM		Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87907423.	NM_152722.5(HEPACAM):c.*458T>C GRCh37: Chr11:124790576 GRCh38: Chr11:124920680	HEPACAM		Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87907324.	NM_152722.5(HEPACAM):c.*459T>C GRCh37: Chr11:124790575 GRCh38: Chr11:124920679	HEPACAM		Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87853725.	NM_152722.5(HEPACAM):c.702C>T (p.Thr234=) GRCh37: Chr11:124793632 GRCh38: Chr11:124923736	HEPACAM		not provided, Megalencephalic leukoencephalopathy with subcortical cysts	Conflicting interpretations of pathogenicity (Sep 26, 2022)	criteria provided, conflicting interpretations
Select item 87853626.	NM_152722.5(HEPACAM):c.709+12C>T GRCh37: Chr11:124793613 GRCh38: Chr11:124923717	HEPACAM		not provided, Megalencephalic leukoencephalopathy with subcortical cysts	Conflicting interpretations of pathogenicity (Jul 30, 2022)	criteria provided, conflicting interpretations
Select item 87849927.	NM_152722.5(HEPACAM):c.*666G>A GRCh37: Chr11:124790368 GRCh38: Chr11:124920472	HEPACAM, HEPN1		Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87849828.	NM_152722.5(HEPACAM):c.*709C>T GRCh37: Chr11:124790325 GRCh38: Chr11:124920429	HEPACAM, HEPN1		Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87849729.	NM_152722.5(HEPACAM):c.*727G>A GRCh37: Chr11:124790307 GRCh38: Chr11:124920411	HEPACAM, HEPN1		Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87849630.	NM_152722.5(HEPACAM):c.*831G>T GRCh37: Chr11:124790203 GRCh38: Chr11:124920307	HEPACAM, HEPN1		Megalencephalic leukoencephalopathy with subcortical cysts	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 87751731.	NM_152722.5(HEPACAM):c.975G>A (p.Pro325=) GRCh37: Chr11:124791310 GRCh38: Chr11:124921414	HEPACAM		not provided, Megalencephalic leukoencephalopathy with subcortical cysts	Benign/Likely benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87751632.	NM_152722.5(HEPACAM):c.1060C>T (p.Pro354Ser) GRCh37: Chr11:124791225 GRCh38: Chr11:124921329	HEPACAM	P354S	Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87751533.	NM_152722.5(HEPACAM):c.1128G>A (p.Ser376=) GRCh37: Chr11:124791157 GRCh38: Chr11:124921261	HEPACAM		Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87747234.	NM_152722.5(HEPACAM):c.*1024G>C GRCh37: Chr11:124790010 GRCh38: Chr11:124920114	HEPACAM, HEPN1		Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87747135.	NM_152722.5(HEPACAM):c.*1235G>A GRCh37: Chr11:124789799 GRCh38: Chr11:124919903	HEPACAM, HEPN1		Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 84393936.	NM_015166.4(MLC1):c.701G>A (p.Trp234Ter) GRCh37: Chr22:50512658 GRCh38: Chr22:50074229	MLC1	W182, W200, W204, W234, W155*	not provided	Pathogenic (Aug 13, 2021)	criteria provided, single submitter
Select item 79934837.	NM_015166.4(MLC1):c.693G>A (p.Thr231=) GRCh37: Chr22:50512666 GRCh38: Chr22:50074237	MLC1		not provided	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 79530738.	NM_015166.4(MLC1):c.222C>T (p.Asn74=) GRCh37: Chr22:50521558 GRCh38: Chr22:50083129	LOC125446261, MLC1		not provided	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 79530439.	NM_015166.4(MLC1):c.1026C>G (p.Thr342=) GRCh37: Chr22:50502496 GRCh38: Chr22:50064067	MLC1		not provided	Likely benign (Jun 17, 2022)	criteria provided, single submitter
Select item 79248340.	NM_015166.4(MLC1):c.882G>A (p.Pro294=) GRCh37: Chr22:50506874 GRCh38: Chr22:50068445	MLC1		Megalencephalic leukoencephalopathy with subcortical cysts 1, not provided	Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 77667741.	NM_152722.5(HEPACAM):c.234C>T (p.Thr78=) GRCh37: Chr11:124794817 GRCh38: Chr11:124924921	HEPACAM		Megalencephalic leukoencephalopathy with subcortical cysts, not provided	Benign/Likely benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 77001542.	NM_015166.4(MLC1):c.1052_1053insCGGGGAGGTGAGTGGCCTGTGGGGTGGGGGTGC (p.Val354_Ala355insSerGlyLeuTrpGlyGlyGlyAlaGlyGluVal) GRCh37: Chr22:50502469-50502470 GRCh38: Chr22:50064040-50064041	MLC1		Megalencephalic leukoencephalopathy with subcortical cysts 1, not provided	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 76635543.	NM_015166.4(MLC1):c.1086C>T (p.Phe362=) GRCh37: Chr22:50500060 GRCh38: Chr22:50061631	MLC1		not provided	Benign (Oct 20, 2022)	criteria provided, single submitter
Select item 76516944.	NM_015166.4(MLC1):c.477G>A (p.Thr159=) GRCh37: Chr22:50515878 GRCh38: Chr22:50077449	MLC1		not provided, Megalencephalic leukoencephalopathy with subcortical cysts 1	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 76283445.	NM_015166.4(MLC1):c.486C>T (p.Ile162=) GRCh37: Chr22:50515869 GRCh38: Chr22:50077440	MLC1		not provided	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 76096746.	NM_015166.4(MLC1):c.1110C>T (p.Ala370=) GRCh37: Chr22:50500036 GRCh38: Chr22:50061607	MLC1		not provided	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 75531447.	NM_015166.4(MLC1):c.1033G>A (p.Gly345Ser) GRCh37: Chr22:50502489 GRCh38: Chr22:50064060	MLC1	G293S, G311S, G266S, G315S, G345S, G326S	not provided	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 75233848.	NM_015166.4(MLC1):c.120G>A (p.Ser40=) GRCh37: Chr22:50523212 GRCh38: Chr22:50084783	MLC1		not provided	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 74314849.	NM_015166.4(MLC1):c.544G>A (p.Ala182Thr) GRCh37: Chr22:50515323 GRCh38: Chr22:50076894	MLC1	A103T, A148T, A152T, A182T, A130T	not provided, Megalencephalic leukoencephalopathy with subcortical cysts 1	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 73762350.	NM_152722.5(HEPACAM):c.636C>T (p.Asp212=) GRCh37: Chr11:124793698 GRCh38: Chr11:124923802	HEPACAM		not provided, Megalencephalic leukoencephalopathy with subcortical cysts	Conflicting interpretations of pathogenicity (Jun 10, 2022)	criteria provided, conflicting interpretations
Select item 73394651.	NM_152722.5(HEPACAM):c.428-8C>T GRCh37: Chr11:124793914 GRCh38: Chr11:124924018	HEPACAM		Megalencephalic leukoencephalopathy with subcortical cysts, not provided	Conflicting interpretations of pathogenicity (Dec 1, 2021)	criteria provided, conflicting interpretations
Select item 72900352.	NM_015166.4(MLC1):c.601G>A (p.Val201Ile) GRCh37: Chr22:50512758 GRCh38: Chr22:50074329	MLC1	V149I, V171I, V201I, V122I, V167I	not provided	Benign (Nov 2, 2022)	criteria provided, single submitter
Select item 72718953.	NM_015166.4(MLC1):c.76G>A (p.Ala26Thr) GRCh37: Chr22:50523256 GRCh38: Chr22:50084827	MLC1	A26T	not provided	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 66062854.	NM_015166.4(MLC1):c.299_423+108del GRCh37: Chr22:50518239-50518795 GRCh38: Chr22:50079810-50080366	MLC1		not provided, Megalencephalic leukoencephalopathy with subcortical cysts	Pathogenic/Likely pathogenic (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55590755.	NM_015166.4(MLC1):c.95C>T (p.Ala32Val) GRCh37: Chr22:50523237 GRCh38: Chr22:50084808	MLC1	A32V	not provided, Megalencephalic leukoencephalopathy with subcortical cysts 1	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 55092856.	NM_015166.4(MLC1):c.628G>A (p.Val210Ile) GRCh37: Chr22:50512731 GRCh38: Chr22:50074302	MLC1	V210I, V131I, V158I, V176I, V180I	not provided, Megalencephalic leukoencephalopathy with subcortical cysts 1, not specified	Conflicting interpretations of pathogenicity (Nov 2, 2022)	criteria provided, conflicting interpretations
Select item 54849357.	NM_015166.4(MLC1):c.177+1G>T GRCh37: Chr22:50523154 GRCh38: Chr22:50084725	MLC1		not provided, Megalencephalic leukoencephalopathy with subcortical cysts, Abnormality of the nervous system	Conflicting interpretations of pathogenicity (Apr 12, 2022)	criteria provided, conflicting interpretations
Select item 54849258.	NM_015166.4(MLC1):c.404T>C (p.Leu135Pro) GRCh37: Chr22:50518366 GRCh38: Chr22:50079937	MLC1	L135P, L105P, L56P	Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Mar 5, 2018)	criteria provided, single submitter
Select item 52282059.	NM_152722.5(HEPACAM):c.592G>A (p.Asp198Asn) GRCh37: Chr11:124793742 GRCh38: Chr11:124923846	HEPACAM	D198N	not provided, Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability	Uncertain significance (Jan 22, 2020)	criteria provided, multiple submitters, no conflicts
Select item 37078560.	NM_015166.4(MLC1):c.136del (p.Cys46fs) GRCh37: Chr22:50523196 GRCh38: Chr22:50084767	MLC1	C46fs	not provided, Megalencephalic leukoencephalopathy with subcortical cysts 1	Pathogenic/Likely pathogenic (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34211961.	NM_015166.3(MLC1):c.-528dup GRCh37: Chr22:50524250-50524251 GRCh38: Chr22:50085821-50085822	MLC1		Megalencephalic leukoencephalopathy with subcortical cysts	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 34211462.	NM_015166.3(MLC1):c.-207_-205dup GRCh37: Chr22:50523928-50523929 GRCh38: Chr22:50085499-50085500	MLC1		Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 34210863.	NM_015166.4(MLC1):c.279G>A (p.Ser93=) GRCh37: Chr22:50518815 GRCh38: Chr22:50080386	MLC1		Megalencephalic leukoencephalopathy with subcortical cysts 1, not provided	Benign/Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 34210664.	NM_015166.4(MLC1):c.627C>T (p.Ala209=) GRCh37: Chr22:50512732 GRCh38: Chr22:50074303	MLC1		not provided, Megalencephalic leukoencephalopathy with subcortical cysts 1	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 34210565.	NM_015166.4(MLC1):c.715-5C>A GRCh37: Chr22:50509017 GRCh38: Chr22:50070588	MLC1		not provided, Megalencephalic leukoencephalopathy with subcortical cysts 1	Conflicting interpretations of pathogenicity (Oct 1, 2022)	criteria provided, conflicting interpretations
Select item 34210466.	NM_015166.4(MLC1):c.772-13G>A GRCh37: Chr22:50506997 GRCh38: Chr22:50068568	MLC1		Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 34210367.	NM_015166.4(MLC1):c.1032C>T (p.Asn344=) GRCh37: Chr22:50502490 GRCh38: Chr22:50064061	MLC1		not provided, Megalencephalic leukoencephalopathy with subcortical cysts 1	Conflicting interpretations of pathogenicity (Oct 8, 2022)	criteria provided, conflicting interpretations
Select item 34210068.	NM_015166.4(MLC1):c.377_378insGGGGGTC GRCh37: Chr22:50499634-50499635 GRCh38: Chr22:50061205-50061206	MLC1		Megalencephalic leukoencephalopathy with subcortical cysts	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 34208269.	NM_015166.4(MLC1):c.*1368dup GRCh37: Chr22:50498643-50498644 GRCh38: Chr22:50060214-50060215	MLC1		Megalencephalic leukoencephalopathy with subcortical cysts	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 34207470.	NM_015166.4(MLC1):c.*1981dup GRCh37: Chr22:50498030-50498031 GRCh38: Chr22:50059601-50059602	MLC1		Megalencephalic leukoencephalopathy with subcortical cysts	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 30334371.	NM_152722.4(HEPACAM):c.-82T>C GRCh37: Chr11:124805984 GRCh38: Chr11:124936088	HEPACAM		not provided, Megalencephalic leukoencephalopathy with subcortical cysts	Benign/Likely benign (Sep 11, 2018)	criteria provided, multiple submitters, no conflicts
Select item 30334272.	NM_152722.4(HEPACAM):c.-67G>T GRCh37: Chr11:124805969 GRCh38: Chr11:124936073	HEPACAM		Megalencephalic leukoencephalopathy with subcortical cysts, not provided	Conflicting interpretations of pathogenicity (Sep 5, 2018)	criteria provided, conflicting interpretations
Select item 30334173.	NM_152722.5(HEPACAM):c.-28G>A GRCh37: Chr11:124805930 GRCh38: Chr11:124936034	HEPACAM		Megalencephalic leukoencephalopathy with subcortical cysts	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30334074.	NM_152722.5(HEPACAM):c.8G>C (p.Arg3Thr) GRCh37: Chr11:124805895 GRCh38: Chr11:124935999	HEPACAM	R3T	not provided, Megalencephalic leukoencephalopathy with subcortical cysts	Benign/Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30333975.	NM_152722.5(HEPACAM):c.15G>T (p.Arg5Ser) GRCh37: Chr11:124805888 GRCh38: Chr11:124935992	HEPACAM	R5S	Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30333876.	NM_152722.5(HEPACAM):c.87C>G (p.Asp29Glu) GRCh37: Chr11:124794964 GRCh38: Chr11:124925068	HEPACAM	D29E	Inborn genetic diseases, Megalencephalic leukoencephalopathy with subcortical cysts	Conflicting interpretations of pathogenicity (Apr 1, 2022)	criteria provided, conflicting interpretations
Select item 30333777.	NM_152722.5(HEPACAM):c.217C>G (p.Arg73Gly) GRCh37: Chr11:124794834 GRCh38: Chr11:124924938	HEPACAM	R73G	Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30333678.	NM_152722.5(HEPACAM):c.254C>T (p.Thr85Ile) GRCh37: Chr11:124794797 GRCh38: Chr11:124924901	HEPACAM	T85I	not provided, Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Mar 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30333579.	NM_152722.5(HEPACAM):c.258G>A (p.Glu86=) GRCh37: Chr11:124794793 GRCh38: Chr11:124924897	HEPACAM		not provided, Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability, Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 2A	Benign/Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30333480.	NM_152722.5(HEPACAM):c.288A>C (p.Arg96=) GRCh37: Chr11:124794763 GRCh38: Chr11:124924867	HEPACAM		not provided, Megalencephalic leukoencephalopathy with subcortical cysts	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30333381.	NM_152722.5(HEPACAM):c.291C>G (p.Asp97Glu) GRCh37: Chr11:124794760 GRCh38: Chr11:124924864	HEPACAM	D97E	Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30333282.	NM_152722.5(HEPACAM):c.472C>T (p.Leu158=) GRCh37: Chr11:124793862 GRCh38: Chr11:124923966	HEPACAM		not provided, Megalencephalic leukoencephalopathy with subcortical cysts	Conflicting interpretations of pathogenicity (Aug 22, 2022)	criteria provided, conflicting interpretations
Select item 30333183.	NM_152722.5(HEPACAM):c.591C>T (p.Pro197=) GRCh37: Chr11:124793743 GRCh38: Chr11:124923847	HEPACAM		Megalencephalic leukoencephalopathy with subcortical cysts, not specified, not provided	Conflicting interpretations of pathogenicity (Mar 1, 2022)	criteria provided, conflicting interpretations
Select item 30333084.	NM_152722.5(HEPACAM):c.740C>T (p.Thr247Ile) GRCh37: Chr11:124793299 GRCh38: Chr11:124923403	HEPACAM	T247I	Inborn genetic diseases, not provided, Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30332985.	NM_152722.5(HEPACAM):c.803+6G>A GRCh37: Chr11:124793230 GRCh38: Chr11:124923334	HEPACAM		Megalencephalic leukoencephalopathy with subcortical cysts, not provided	Conflicting interpretations of pathogenicity (Sep 21, 2021)	criteria provided, conflicting interpretations
Select item 30332886.	NM_152722.5(HEPACAM):c.851A>G (p.Gln284Arg) GRCh37: Chr11:124792667 GRCh38: Chr11:124922771	HEPACAM	Q284R	not provided, Megalencephalic leukoencephalopathy with subcortical cysts	Benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30332787.	NM_152722.5(HEPACAM):c.862C>T (p.Arg288Cys) GRCh37: Chr11:124792656 GRCh38: Chr11:124922760	HEPACAM	R288C	Megalencephalic leukoencephalopathy with subcortical cysts, not provided	Conflicting interpretations of pathogenicity (May 1, 2023)	criteria provided, conflicting interpretations
Select item 30332688.	NM_152722.5(HEPACAM):c.871C>T (p.Pro291Ser) GRCh37: Chr11:124792647 GRCh38: Chr11:124922751	HEPACAM	P291S	not provided, Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Jul 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30332589.	NM_152722.5(HEPACAM):c.1072G>A (p.Ala358Thr) GRCh37: Chr11:124791213 GRCh38: Chr11:124921317	HEPACAM	A358T	Megalencephalic leukoencephalopathy with subcortical cysts, not specified, not provided	Conflicting interpretations of pathogenicity (Oct 12, 2022)	criteria provided, conflicting interpretations
Select item 30332490.	NM_152722.5(HEPACAM):c.*83G>A GRCh37: Chr11:124790951 GRCh38: Chr11:124921055	HEPACAM		Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30332391.	NM_152722.5(HEPACAM):c.*88G>T GRCh37: Chr11:124790946 GRCh38: Chr11:124921050	HEPACAM		Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30332292.	NM_152722.5(HEPACAM):c.*105G>A GRCh37: Chr11:124790929 GRCh38: Chr11:124921033	HEPACAM		Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30332193.	NM_152722.5(HEPACAM):c.*112G>A GRCh37: Chr11:124790922 GRCh38: Chr11:124921026	HEPACAM		Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30332094.	NM_152722.5(HEPACAM):c.*112G>C GRCh37: Chr11:124790922 GRCh38: Chr11:124921026	HEPACAM		Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30331995.	NM_152722.5(HEPACAM):c.*112G>T GRCh37: Chr11:124790922 GRCh38: Chr11:124921026	HEPACAM		Megalencephalic leukoencephalopathy with subcortical cysts, not provided	Benign (Jul 27, 2018)	criteria provided, multiple submitters, no conflicts
Select item 30331896.	NM_152722.5(HEPACAM):c.*116G>A GRCh37: Chr11:124790918 GRCh38: Chr11:124921022	HEPACAM		Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30331797.	NM_152722.5(HEPACAM):c.*116dup GRCh37: Chr11:124790917-124790918 GRCh38: Chr11:124921021-124921022	HEPACAM		Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30331698.	NM_152722.5(HEPACAM):c.*192T>C GRCh37: Chr11:124790842 GRCh38: Chr11:124920946	HEPACAM		Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30331599.	NM_152722.5(HEPACAM):c.*207G>T GRCh37: Chr11:124790827 GRCh38: Chr11:124920931	HEPACAM		Megalencephalic leukoencephalopathy with subcortical cysts	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 303314100.	NM_152722.5(HEPACAM):c.*270C>G GRCh37: Chr11:124790764 GRCh38: Chr11:124920868	HEPACAM		Megalencephalic leukoencephalopathy with subcortical cysts	Likely benign (Jan 12, 2018)	criteria provided, single submitter

<< First< Prev

Page of 2