ClinVar for MedGen (Select 462308) - ClinVar

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

Links from MedGen

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1802211	NM_000447.3(PSEN2):c.250G>A (p.Gly84Arg)	PSEN2 (G84R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1V	GUncertain significance
Select item 1678339	NM_000447.3(PSEN2):c.902C>T (p.Thr301Met)	PSEN2 (T301M)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +2 more	GUncertain significance
Select item 1555813	NM_000447.3(PSEN2):c.886+16G>A	PSEN2	Single nucleotide variant (intron variant)	Alzheimer disease 4 +1 more	GBenign/Likely benign
Select item 1446296	NM_000447.3(PSEN2):c.85C>T (p.Arg29Cys)	PSEN2 (R29C)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +3 more	GUncertain significance
Select item 1338977	NM_000447.3(PSEN2):c.584A>G (p.Tyr195Cys)	PSEN2 (Y195C)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1V	GUncertain significance
Select item 1287790	NM_000447.3(PSEN2):c.498+30G>C	PSEN2	Single nucleotide variant (intron variant)	Alzheimer disease 4 +2 more	GBenign
Select item 1263954	NM_000447.3(PSEN2):c.142-42G>A	PSEN2	Single nucleotide variant (intron variant)	Alzheimer disease 4 +2 more	GBenign
Select item 1261389	NM_000447.3(PSEN2):c.142-29T>C	PSEN2	Single nucleotide variant (intron variant)	Alzheimer disease 4 +2 more	GBenign
Select item 1244275	NM_000447.3(PSEN2):c.887-24T>C	PSEN2	Single nucleotide variant (intron variant)	Alzheimer disease 4 +2 more	GBenign
Select item 1244107	NM_000447.3(PSEN2):c.1191+24G>A	PSEN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1V +2 more	GBenign
Select item 1054623	NM_000447.3(PSEN2):c.203T>C (p.Val68Ala)	PSEN2 (V68A)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +1 more	GUncertain significance
Select item 876526	NM_000447.3(PSEN2):c.*479G>T	PSEN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1V +1 more	GUncertain significance
Select item 876474	NM_000447.3(PSEN2):c.1304G>A (p.Arg435Gln)	PSEN2 (R434Q +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +1 more	GUncertain significance
Select item 876473	NM_000447.3(PSEN2):c.1262C>T (p.Thr421Met)	PSEN2 (T420M +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +1 more	GUncertain significance
Select item 876472	NM_000447.3(PSEN2):c.1245C>T (p.Ala415=)	PSEN2	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1V +1 more	GUncertain significance
Select item 876264	NM_000447.3(PSEN2):c.-136G>A	PSEN2	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1V +1 more	GUncertain significance
Select item 875518	NM_000447.3(PSEN2):c.*378G>C	PSEN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1V +1 more	GUncertain significance
Select item 875452	NM_000447.3(PSEN2):c.1177G>A (p.Val393Met)	PSEN2 (V392M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 875307	NM_000447.3(PSEN2):c.-184C>T	PSEN2	Single nucleotide variant (5 prime UTR variant)	Alzheimer disease 4 +1 more	GUncertain significance
Select item 874590	NM_000447.3(PSEN2):c.*284T>A	PSEN2	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 4 +1 more	GUncertain significance
Select item 874589	NM_000447.3(PSEN2):c.*210G>A	PSEN2	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 4 +1 more	GUncertain significance
Select item 874529	NM_000447.3(PSEN2):c.927C>T (p.Pro309=)	PSEN2	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1V +1 more	GUncertain significance
Select item 874475	NM_000447.3(PSEN2):c.729C>G (p.Phe243Leu)	PSEN2 (F243L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1V +1 more	GUncertain significance
Select item 874474	NM_000447.3(PSEN2):c.711G>A (p.Ala237=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4 +1 more	GConflicting classifications of pathogenicity
Select item 874391	NM_000447.3(PSEN2):c.-278C>A	PSEN2	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1V +1 more	GUncertain significance
Select item 873585	NM_000447.3(PSEN2):c.1308G>A (p.Pro436=)	PSEN2	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1V +1 more	GUncertain significance
Select item 743080	NM_000447.3(PSEN2):c.639A>G (p.Ala213=)	PSEN2	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1V +2 more	GLikely benign
Select item 721218	NM_000447.3(PSEN2):c.100G>A (p.Gly34Ser)	PSEN2 (G34S)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +1 more	GConflicting classifications of pathogenicity
Select item 706267	NM_000447.3(PSEN2):c.300C>T (p.Ile100=)	PSEN2	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1V +1 more	GConflicting classifications of pathogenicity
Select item 705974	NM_000447.3(PSEN2):c.754G>A (p.Ala252Thr)	PSEN2 (A252T)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +1 more	GConflicting classifications of pathogenicity
Select item 705672	NM_000447.3(PSEN2):c.162G>C (p.Glu54Asp)	PSEN2 (E54D)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +1 more	GLikely benign
Select item 695724	NM_000447.3(PSEN2):c.520A>G (p.Met174Val)	PSEN2 (M174V)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +2 more	GBenign/Likely benign
Select item 652702	NM_000447.3(PSEN2):c.772G>A (p.Ala258Thr)	PSEN2 (A258T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 567646	NM_000447.3(PSEN2):c.184C>T (p.Arg62Cys)	PSEN2 (R62C)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +3 more	GUncertain significance
Select item 533782	NM_000447.3(PSEN2):c.1176C>T (p.Phe392=)	PSEN2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 533780	NM_000447.3(PSEN2):c.132T>A (p.Thr44=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4 +1 more	GBenign/Likely benign
Select item 448151	NM_000447.3(PSEN2):c.712C>T (p.Leu238Phe)	PSEN2 (L238F)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 448149	NM_000447.3(PSEN2):c.415G>A (p.Val139Met)	PSEN2 (V139M)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +2 more	GConflicting classifications of pathogenicity
Select item 296005	NM_000447.3(PSEN2):c.*487G>C	PSEN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1V +1 more	GBenign/Likely benign
Select item 296004	NM_000447.3(PSEN2):c.*405G>T	PSEN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1V +1 more	GBenign/Likely benign
Select item 296003	NM_000447.3(PSEN2):c.*377C>T	PSEN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1V +1 more	GUncertain significance
Select item 296002	NM_000447.3(PSEN2):c.*306G>A	PSEN2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 296001	NM_000447.3(PSEN2):c.*270C>T	PSEN2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 296000	NM_000447.3(PSEN2):c.*132T>C	PSEN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1V +1 more	GUncertain significance
Select item 295999	NM_000447.3(PSEN2):c.*120G>A	PSEN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1V +1 more	GConflicting classifications of pathogenicity
Select item 295998	NM_000447.3(PSEN2):c.*103C>T	PSEN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1V +1 more	GUncertain significance
Select item 295997	NM_000447.3(PSEN2):c.*72T>C	PSEN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1V +1 more	GUncertain significance
Select item 295996	NM_000447.3(PSEN2):c.*20G>A	PSEN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1V +1 more	GUncertain significance
Select item 295995	NM_000447.3(PSEN2):c.1077C>T (p.Gly359=)	PSEN2	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1V +1 more	GUncertain significance
Select item 295994	NM_000447.3(PSEN2):c.954C>T (p.Pro318=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4 +2 more	GConflicting classifications of pathogenicity
Select item 295993	NM_000447.3(PSEN2):c.937G>A (p.Gly313Ser)	PSEN2 (G313S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1V +2 more	GUncertain significance
Select item 295992	NM_000447.3(PSEN2):c.861C>T (p.Pro287=)	PSEN2	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1V +3 more	GBenign/Likely benign
Select item 295991	NM_000447.3(PSEN2):c.690C>G (p.Ala230=)	PSEN2	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1V +2 more	GConflicting classifications of pathogenicity
Select item 295990	NM_000447.3(PSEN2):c.410A>G (p.Asn137Ser)	PSEN2 (N137S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1V +1 more	GUncertain significance
Select item 295989	NM_000447.3(PSEN2):c.336C>T (p.Tyr112=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4 +3 more	GConflicting classifications of pathogenicity
Select item 295988	NM_000447.3(PSEN2):c.222C>G (p.Gly74=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4 +1 more	GUncertain significance
Select item 295987	NM_000447.3(PSEN2):c.38T>C (p.Val13Ala)	PSEN2 (V13A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 295986	NM_000447.3(PSEN2):c.-43C>T	PSEN2	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1V +1 more	GBenign
Select item 295985	NM_000447.3(PSEN2):c.-82T>C	PSEN2	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1V +1 more	GUncertain significance
Select item 295984	NM_000447.3(PSEN2):c.-144A>G	PSEN2	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1V +1 more	GUncertain significance
Select item 295983	NM_000447.3(PSEN2):c.-275C>T	PSEN2	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1V +1 more	GBenign
Select item 295982	NM_000447.3(PSEN2):c.-278C>T	PSEN2	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1V +1 more	GUncertain significance
Select item 295981	NM_000447.3(PSEN2):c.-338A>G	PSEN2	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1V +1 more	GLikely benign
Select item 295980	NM_000447.3(PSEN2):c.-356A>G	LOC129932678, PSEN2	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1V +1 more	GBenign
Select item 256187	NM_000447.3(PSEN2):c.903G>T (p.Thr301=)	PSEN2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 256186	NM_000447.3(PSEN2):c.756G>C (p.Ala252=)	PSEN2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 256185	NM_000447.3(PSEN2):c.708T>C (p.Ser236=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4 +3 more	GBenign/Likely benign
Select item 256184	NM_000447.3(PSEN2):c.69T>C (p.Ala23=)	PSEN2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 256183	NM_000447.3(PSEN2):c.441C>T (p.Ser147=)	PSEN2	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1V +3 more	GBenign/Likely benign
Select item 256182	NM_000447.3(PSEN2):c.366G>A (p.Thr122=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4 +3 more	GBenign/Likely benign
Select item 256181	NM_000447.3(PSEN2):c.261C>T (p.His87=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4 +3 more	GBenign
Select item 256180	NM_000447.3(PSEN2):c.129C>T (p.Asn43=)	PSEN2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 192130	NM_000447.3(PSEN2):c.211C>T (p.Arg71Trp)	PSEN2 (R71W)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1V +3 more	GBenign/Likely benign
Select item 191771	NM_000447.3(PSEN2):c.205C>G (p.Pro69Ala)	PSEN2 (P69A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 180476	NM_000447.3(PSEN2):c.149A>G (p.Gln50Arg)	PSEN2 (Q50R)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +3 more	GConflicting classifications of pathogenicity
Select item 97998	NM_000447.3(PSEN2):c.1001C>G (p.Pro334Arg)	PSEN2 (P334R +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1V +2 more	GUncertain significance
Select item 97995	NM_000447.3(PSEN2):c.185G>A (p.Arg62His)	PSEN2 (R62H)	Single nucleotide variant (missense variant)	Alzheimer disease +4 more	GBenign/Likely benign
Select item 8852	NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu)	PSEN2 (S130L)	Single nucleotide variant (missense variant)	PSEN2-related disorder +4 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 78