ClinVar for MedGen (Select 462308) - ClinVar

Links from MedGen

Items: 78

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 18022111.	NM_000447.3(PSEN2):c.250G>A (p.Gly84Arg) GRCh37: Chr1:227071514 GRCh38: Chr1:226883813	PSEN2	G84R	Dilated cardiomyopathy 1V	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 16783392.	NM_000447.3(PSEN2):c.902C>T (p.Thr301Met) GRCh37: Chr1:227078994 GRCh38: Chr1:226891293	PSEN2	T301M	not provided, Alzheimer disease 4, Alzheimer disease 4, Dilated cardiomyopathy 1V	Uncertain significance (Jun 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15558133.	NM_000447.3(PSEN2):c.886+16G>A GRCh37: Chr1:227077850 GRCh38: Chr1:226890149	PSEN2		Alzheimer disease 4, Alzheimer disease 4, Dilated cardiomyopathy 1V	Benign/Likely benign (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14462964.	NM_000447.3(PSEN2):c.85C>T (p.Arg29Cys) GRCh37: Chr1:227069693 GRCh38: Chr1:226881992	PSEN2	R29C	Inborn genetic diseases, Alzheimer disease 4, Dilated cardiomyopathy 1V, Alzheimer disease 4	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13389775.	NM_000447.3(PSEN2):c.584A>G (p.Tyr195Cys) GRCh37: Chr1:227076547 GRCh38: Chr1:226888846	PSEN2	Y195C	Dilated cardiomyopathy 1V	Uncertain significance	criteria provided, single submitter
Select item 12877906.	NM_000447.3(PSEN2):c.498+30G>C GRCh37: Chr1:227073410 GRCh38: Chr1:226885709	PSEN2		Alzheimer disease 4, Dilated cardiomyopathy 1V, not provided	Benign (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12639547.	NM_000447.3(PSEN2):c.142-42G>A GRCh37: Chr1:227071364 GRCh38: Chr1:226883663	PSEN2		not provided, Alzheimer disease 4, Dilated cardiomyopathy 1V	Benign (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12613898.	NM_000447.3(PSEN2):c.142-29T>C GRCh37: Chr1:227071377 GRCh38: Chr1:226883676	PSEN2		not provided, Alzheimer disease 4, Dilated cardiomyopathy 1V	Benign (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12442759.	NM_000447.3(PSEN2):c.887-24T>C GRCh37: Chr1:227078955 GRCh38: Chr1:226891254	PSEN2		Dilated cardiomyopathy 1V, not provided, Alzheimer disease 4	Benign (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 124410710.	NM_000447.3(PSEN2):c.1191+24G>A GRCh37: Chr1:227081850 GRCh38: Chr1:226894149	PSEN2		Dilated cardiomyopathy 1V, not provided, Alzheimer disease 4	Benign (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 105462311.	NM_000447.3(PSEN2):c.203T>C (p.Val68Ala) GRCh37: Chr1:227071467 GRCh38: Chr1:226883766	PSEN2	V68A	Alzheimer disease 4, Dilated cardiomyopathy 1V, Alzheimer disease 4	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 87652612.	NM_000447.3(PSEN2):c.*479G>T GRCh37: Chr1:227083759 GRCh38: Chr1:226896058	PSEN2		Dilated cardiomyopathy 1V, Alzheimer disease 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87647413.	NM_000447.3(PSEN2):c.1304G>A (p.Arg435Gln) GRCh37: Chr1:227083237 GRCh38: Chr1:226895536	PSEN2	R434Q, R435Q	Alzheimer disease 4, Dilated cardiomyopathy 1V	Uncertain significance (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87647314.	NM_000447.3(PSEN2):c.1262C>T (p.Thr421Met) GRCh37: Chr1:227083195 GRCh38: Chr1:226895494	PSEN2	T420M, T421M	Alzheimer disease 4, Dilated cardiomyopathy 1V	Uncertain significance (Aug 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87647215.	NM_000447.3(PSEN2):c.1245C>T (p.Ala415=) GRCh37: Chr1:227083178 GRCh38: Chr1:226895477	PSEN2		Dilated cardiomyopathy 1V, Alzheimer disease 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87626416.	NM_000447.3(PSEN2):c.-136G>A GRCh37: Chr1:227063136 GRCh38: Chr1:226875435	PSEN2		Dilated cardiomyopathy 1V, Alzheimer disease 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87551817.	NM_000447.3(PSEN2):c.*378G>C GRCh37: Chr1:227083658 GRCh38: Chr1:226895957	PSEN2		Dilated cardiomyopathy 1V, Alzheimer disease 4	Uncertain significance (Feb 12, 2018)	criteria provided, single submitter
Select item 87545218.	NM_000447.3(PSEN2):c.1177G>A (p.Val393Met) GRCh37: Chr1:227081812 GRCh38: Chr1:226894111	PSEN2	V392M, V393M	not provided, Dilated cardiomyopathy 1V, Alzheimer disease 4, Dilated cardiomyopathy 1V, Alzheimer disease 4	Uncertain significance (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87530719.	NM_000447.3(PSEN2):c.-184C>T GRCh37: Chr1:227063088 GRCh38: Chr1:226875387	PSEN2		Dilated cardiomyopathy 1V, Alzheimer disease 4	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 87459020.	NM_000447.3(PSEN2):c.*284T>A GRCh37: Chr1:227083564 GRCh38: Chr1:226895863	PSEN2		Dilated cardiomyopathy 1V, Alzheimer disease 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87458921.	NM_000447.3(PSEN2):c.*210G>A GRCh37: Chr1:227083490 GRCh38: Chr1:226895789	PSEN2		Alzheimer disease 4, Dilated cardiomyopathy 1V	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87452922.	NM_000447.3(PSEN2):c.927C>T (p.Pro309=) GRCh37: Chr1:227079019 GRCh38: Chr1:226891318	PSEN2		Dilated cardiomyopathy 1V, Alzheimer disease 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87447523.	NM_000447.3(PSEN2):c.729C>G (p.Phe243Leu) GRCh37: Chr1:227076692 GRCh38: Chr1:226888991	PSEN2	F243L	Dilated cardiomyopathy 1V, Alzheimer disease 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87447424.	NM_000447.3(PSEN2):c.711G>A (p.Ala237=) GRCh37: Chr1:227076674 GRCh38: Chr1:226888973	PSEN2		Dilated cardiomyopathy 1V, Alzheimer disease 4	Conflicting interpretations of pathogenicity (Feb 23, 2022)	criteria provided, conflicting interpretations
Select item 87439125.	NM_000447.3(PSEN2):c.-278C>A GRCh37: Chr1:227059034 GRCh38: Chr1:226871333	PSEN2		Dilated cardiomyopathy 1V, Alzheimer disease 4	Uncertain significance (Feb 9, 2018)	criteria provided, single submitter
Select item 87358526.	NM_000447.3(PSEN2):c.1308G>A (p.Pro436=) GRCh37: Chr1:227083241 GRCh38: Chr1:226895540	PSEN2		Dilated cardiomyopathy 1V, Alzheimer disease 4	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 74308027.	NM_000447.3(PSEN2):c.639A>G (p.Ala213=) GRCh37: Chr1:227076602 GRCh38: Chr1:226888901	PSEN2		not provided, Alzheimer disease 4, Dilated cardiomyopathy 1V	Likely benign (Jun 15, 2018)	criteria provided, multiple submitters, no conflicts
Select item 72121828.	NM_000447.3(PSEN2):c.100G>A (p.Gly34Ser) GRCh37: Chr1:227069708 GRCh38: Chr1:226882007	PSEN2	G34S	Alzheimer disease 4, Dilated cardiomyopathy 1V	Conflicting interpretations of pathogenicity (Jul 26, 2022)	criteria provided, conflicting interpretations
Select item 70626729.	NM_000447.3(PSEN2):c.300C>T (p.Ile100=) GRCh37: Chr1:227071564 GRCh38: Chr1:226883863	PSEN2		Dilated cardiomyopathy 1V, Alzheimer disease 4	Conflicting interpretations of pathogenicity (Mar 4, 2018)	criteria provided, conflicting interpretations
Select item 70597430.	NM_000447.3(PSEN2):c.754G>A (p.Ala252Thr) GRCh37: Chr1:227076717 GRCh38: Chr1:226889016	PSEN2	A252T	Alzheimer disease 4, Dilated cardiomyopathy 1V	Conflicting interpretations of pathogenicity (Apr 13, 2022)	criteria provided, conflicting interpretations
Select item 70567231.	NM_000447.3(PSEN2):c.162G>C (p.Glu54Asp) GRCh37: Chr1:227071426 GRCh38: Chr1:226883725	PSEN2	E54D	Alzheimer disease 4, Dilated cardiomyopathy 1V, Alzheimer disease 4	Likely benign (May 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69572432.	NM_000447.3(PSEN2):c.520A>G (p.Met174Val) GRCh37: Chr1:227075813 GRCh38: Chr1:226888112	PSEN2	M174V	Alzheimer disease 4, Dilated cardiomyopathy 1V, not specified, Alzheimer disease 4	Benign/Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65270233.	NM_000447.3(PSEN2):c.772G>A (p.Ala258Thr) GRCh37: Chr1:227076735 GRCh38: Chr1:226889034	PSEN2	A258T	Alzheimer disease 4, Dilated cardiomyopathy 1V, Alzheimer disease 4	Uncertain significance (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56764634.	NM_000447.3(PSEN2):c.184C>T (p.Arg62Cys) GRCh37: Chr1:227071448 GRCh38: Chr1:226883747	PSEN2	R62C	Dilated cardiomyopathy 1V, Alzheimer disease 4, not provided, Alzheimer disease 4	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 53378235.	NM_000447.3(PSEN2):c.1176C>T (p.Phe392=) GRCh37: Chr1:227081811 GRCh38: Chr1:226894110	PSEN2		Dilated cardiomyopathy 1V, Alzheimer disease 4, not provided, not specified	Benign/Likely benign (Sep 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 53378036.	NM_000447.3(PSEN2):c.132T>A (p.Thr44=) GRCh37: Chr1:227069740 GRCh38: Chr1:226882039	PSEN2		Alzheimer disease 4, Dilated cardiomyopathy 1V	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44815137.	NM_000447.3(PSEN2):c.712C>T (p.Leu238Phe) GRCh37: Chr1:227076675 GRCh38: Chr1:226888974	PSEN2	L238F	Dilated cardiomyopathy 1V, Alzheimer disease 4, not provided, Alzheimer disease 4	Conflicting interpretations of pathogenicity (Jun 8, 2022)	criteria provided, conflicting interpretations
Select item 44814938.	NM_000447.3(PSEN2):c.415G>A (p.Val139Met) GRCh37: Chr1:227073297 GRCh38: Chr1:226885596	PSEN2	V139M	Alzheimer disease 4, Dilated cardiomyopathy 1V, not provided	Conflicting interpretations of pathogenicity (Feb 1, 2022)	criteria provided, conflicting interpretations
Select item 29600539.	NM_000447.3(PSEN2):c.*487G>C GRCh37: Chr1:227083767 GRCh38: Chr1:226896066	PSEN2		Dilated cardiomyopathy 1V, Alzheimer disease 4	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 29600440.	NM_000447.3(PSEN2):c.*405G>T GRCh37: Chr1:227083685 GRCh38: Chr1:226895984	PSEN2		Dilated cardiomyopathy 1V, Alzheimer disease 4	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 29600341.	NM_000447.3(PSEN2):c.*377C>T GRCh37: Chr1:227083657 GRCh38: Chr1:226895956	PSEN2		Dilated cardiomyopathy 1V, Alzheimer disease 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29600242.	NM_000447.3(PSEN2):c.*306G>A GRCh37: Chr1:227083586 GRCh38: Chr1:226895885	PSEN2		Dilated cardiomyopathy 1V, Alzheimer disease 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29600143.	NM_000447.3(PSEN2):c.*270C>T GRCh37: Chr1:227083550 GRCh38: Chr1:226895849	PSEN2		not provided, Dilated cardiomyopathy 1V, Alzheimer disease 4	Benign (Sep 17, 2018)	criteria provided, multiple submitters, no conflicts
Select item 29600044.	NM_000447.3(PSEN2):c.*132T>C GRCh37: Chr1:227083412 GRCh38: Chr1:226895711	PSEN2		Dilated cardiomyopathy 1V, Alzheimer disease 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29599945.	NM_000447.3(PSEN2):c.*120G>A GRCh37: Chr1:227083400 GRCh38: Chr1:226895699	PSEN2		Dilated cardiomyopathy 1V, Alzheimer disease 4	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 29599846.	NM_000447.3(PSEN2):c.*103C>T GRCh37: Chr1:227083383 GRCh38: Chr1:226895682	PSEN2		Dilated cardiomyopathy 1V, Alzheimer disease 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29599747.	NM_000447.3(PSEN2):c.*72T>C GRCh37: Chr1:227083352 GRCh38: Chr1:226895651	PSEN2		Dilated cardiomyopathy 1V, Alzheimer disease 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29599648.	NM_000447.3(PSEN2):c.*20G>A GRCh37: Chr1:227083300 GRCh38: Chr1:226895599	PSEN2		Dilated cardiomyopathy 1V, Alzheimer disease 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29599549.	NM_000447.3(PSEN2):c.1077C>T (p.Gly359=) GRCh37: Chr1:227081712 GRCh38: Chr1:226894011	PSEN2		Alzheimer disease 4, Dilated cardiomyopathy 1V	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29599450.	NM_000447.3(PSEN2):c.954C>T (p.Pro318=) GRCh37: Chr1:227079046 GRCh38: Chr1:226891345	PSEN2		not specified, Alzheimer disease 4, Dilated cardiomyopathy 1V	Conflicting interpretations of pathogenicity (Jul 22, 2021)	criteria provided, conflicting interpretations
Select item 29599351.	NM_000447.3(PSEN2):c.937G>A (p.Gly313Ser) GRCh37: Chr1:227079029 GRCh38: Chr1:226891328	PSEN2	G313S	not provided, Dilated cardiomyopathy 1V, Alzheimer disease 4	Uncertain significance (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29599252.	NM_000447.3(PSEN2):c.861C>T (p.Pro287=) GRCh37: Chr1:227077809 GRCh38: Chr1:226890108	PSEN2		not specified, not provided, Dilated cardiomyopathy 1V, Alzheimer disease 4	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29599153.	NM_000447.3(PSEN2):c.690C>G (p.Ala230=) GRCh37: Chr1:227076653 GRCh38: Chr1:226888952	PSEN2		not provided, Alzheimer disease 4, Dilated cardiomyopathy 1V	Conflicting interpretations of pathogenicity (Aug 31, 2022)	criteria provided, conflicting interpretations
Select item 29599054.	NM_000447.3(PSEN2):c.410A>G (p.Asn137Ser) GRCh37: Chr1:227073292 GRCh38: Chr1:226885591	PSEN2	N137S	Dilated cardiomyopathy 1V, Alzheimer disease 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29598955.	NM_000447.3(PSEN2):c.336C>T (p.Tyr112=) GRCh37: Chr1:227071600 GRCh38: Chr1:226883899	PSEN2		not specified, Dilated cardiomyopathy 1V, not provided, Alzheimer disease 4	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 29598856.	NM_000447.3(PSEN2):c.222C>G (p.Gly74=) GRCh37: Chr1:227071486 GRCh38: Chr1:226883785	PSEN2		Dilated cardiomyopathy 1V, Alzheimer disease 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29598757.	NM_000447.3(PSEN2):c.38T>C (p.Val13Ala) GRCh37: Chr1:227069646 GRCh38: Chr1:226881945	PSEN2	V13A	Inborn genetic diseases, Dilated cardiomyopathy 1V, Alzheimer disease 4	Uncertain significance (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29598658.	NM_000447.3(PSEN2):c.-43C>T GRCh37: Chr1:227063229 GRCh38: Chr1:226875528	PSEN2		Dilated cardiomyopathy 1V, Alzheimer disease 4	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 29598559.	NM_000447.3(PSEN2):c.-82T>C GRCh37: Chr1:227063190 GRCh38: Chr1:226875489	PSEN2		Dilated cardiomyopathy 1V, Alzheimer disease 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29598460.	NM_000447.3(PSEN2):c.-144A>G GRCh37: Chr1:227063128 GRCh38: Chr1:226875427	PSEN2		Dilated cardiomyopathy 1V, Alzheimer disease 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29598361.	NM_000447.3(PSEN2):c.-275C>T GRCh37: Chr1:227059037 GRCh38: Chr1:226871336	PSEN2		Dilated cardiomyopathy 1V, Alzheimer disease 4	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 29598262.	NM_000447.3(PSEN2):c.-278C>T GRCh37: Chr1:227059034 GRCh38: Chr1:226871333	PSEN2		Dilated cardiomyopathy 1V, Alzheimer disease 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29598163.	NM_000447.3(PSEN2):c.-338A>G GRCh37: Chr1:227058974 GRCh38: Chr1:226871273	PSEN2		Dilated cardiomyopathy 1V, Alzheimer disease 4	Likely benign (Apr 28, 2017)	criteria provided, single submitter
Select item 29598064.	NM_000447.3(PSEN2):c.-356A>G GRCh37: Chr1:227058344 GRCh38: Chr1:226870643	PSEN2		Dilated cardiomyopathy 1V, Alzheimer disease 4	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 25618765.	NM_000447.3(PSEN2):c.903G>T (p.Thr301=) GRCh37: Chr1:227078995 GRCh38: Chr1:226891294	PSEN2		not specified, not provided, Dilated cardiomyopathy 1V, Alzheimer disease 4	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25618666.	NM_000447.3(PSEN2):c.756G>C (p.Ala252=) GRCh37: Chr1:227076719 GRCh38: Chr1:226889018	PSEN2		not specified, not provided, Dilated cardiomyopathy 1V, Alzheimer disease 4	Benign/Likely benign (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25618567.	NM_000447.3(PSEN2):c.708T>C (p.Ser236=) GRCh37: Chr1:227076671 GRCh38: Chr1:226888970	PSEN2		not provided, Alzheimer disease 4, Dilated cardiomyopathy 1V, not specified	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25618468.	NM_000447.3(PSEN2):c.69T>C (p.Ala23=) GRCh37: Chr1:227069677 GRCh38: Chr1:226881976	PSEN2		not provided, not specified, Dilated cardiomyopathy 1V, Alzheimer disease 4	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25618369.	NM_000447.3(PSEN2):c.441C>T (p.Ser147=) GRCh37: Chr1:227073323 GRCh38: Chr1:226885622	PSEN2		not provided, not specified, Dilated cardiomyopathy 1V, Alzheimer disease 4	Benign/Likely benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25618270.	NM_000447.3(PSEN2):c.366G>A (p.Thr122=) GRCh37: Chr1:227073248 GRCh38: Chr1:226885547	PSEN2		not specified, not provided, Dilated cardiomyopathy 1V, Alzheimer disease 4	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25618171.	NM_000447.3(PSEN2):c.261C>T (p.His87=) GRCh37: Chr1:227071525 GRCh38: Chr1:226883824	PSEN2		not specified, not provided, Dilated cardiomyopathy 1V, Alzheimer disease 4	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25618072.	NM_000447.3(PSEN2):c.129C>T (p.Asn43=) GRCh37: Chr1:227069737 GRCh38: Chr1:226882036	PSEN2		not specified, Alzheimer disease 4, Dilated cardiomyopathy 1V, not provided	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19213073.	NM_000447.3(PSEN2):c.211C>T (p.Arg71Trp) GRCh37: Chr1:227071475 GRCh38: Chr1:226883774	PSEN2	R71W	not specified, not provided, Alzheimer disease 4, Dilated cardiomyopathy 1V	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19177174.	NM_000447.3(PSEN2):c.205C>G (p.Pro69Ala) GRCh37: Chr1:227071469 GRCh38: Chr1:226883768	PSEN2	P69A	Alzheimer disease 4, Dilated cardiomyopathy 1V, not provided, Alzheimer disease 4	Uncertain significance (Mar 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18047675.	NM_000447.3(PSEN2):c.149A>G (p.Gln50Arg) GRCh37: Chr1:227071413 GRCh38: Chr1:226883712	PSEN2	Q50R	Alzheimer disease 4, Dilated cardiomyopathy 1V	Benign/Likely benign (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9799876.	NM_000447.3(PSEN2):c.1001C>G (p.Pro334Arg) GRCh37: Chr1:227079474 GRCh38: Chr1:226891773	PSEN2	P334R, P333R	Alzheimer disease 4, Dilated cardiomyopathy 1V, not provided	Uncertain significance (Nov 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9799577.	NM_000447.3(PSEN2):c.185G>A (p.Arg62His) GRCh37: Chr1:227071449 GRCh38: Chr1:226883748	PSEN2	R62H	not specified, Alzheimer disease 4, Dilated cardiomyopathy 1V, Alzheimer disease	Benign/Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 885278.	NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) GRCh37: Chr1:227073271 GRCh38: Chr1:226885570	PSEN2	S130L	not specified, Alzheimer disease 4, Dilated cardiomyopathy 1V, Alzheimer disease	Benign/Likely benign (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 78