"GeneDx"[submitter] AND "PSEN2"[gene] - ClinVar

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

Search results

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 256184	NM_000447.3(PSEN2):c.69T>C (p.Ala23=)	PSEN2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 256180	NM_000447.3(PSEN2):c.129C>T (p.Asn43=)	PSEN2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1217123	NM_000447.3(PSEN2):c.141+30A>G	PSEN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318483	NM_000447.3(PSEN2):c.141+58A>G	PSEN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234987	NM_000447.3(PSEN2):c.141+125C>G	LOC129388763, PSEN2	Single nucleotide variant (intron variant)	not provided	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 1226767	NM_000447.3(PSEN2):c.142-23C>T	PSEN2	Single nucleotide variant (intron variant)	not provided	GBenign
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 2442519	NM_000447.3(PSEN2):c.236T>C (p.Leu79Pro)	PSEN2 (L79P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 256181	NM_000447.3(PSEN2):c.261C>T (p.His87=)	PSEN2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1242391	NM_000447.3(PSEN2):c.356+50A>G	PSEN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296415	NM_000447.3(PSEN2):c.356+83A>C	PSEN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281440	NM_000447.3(PSEN2):c.356+146T>C	PSEN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 8845	NM_000447.3(PSEN2):c.422A>T (p.Asn141Ile)	PSEN2 (N141I)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 256183	NM_000447.3(PSEN2):c.441C>T (p.Ser147=)	PSEN2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 424013	NM_000447.3(PSEN2):c.448G>A (p.Val150Met)	PSEN2 (V150M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 1205092	NM_000447.3(PSEN2):c.499-121G>A	PSEN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326039	NM_000447.3(PSEN2):c.566+57G>A	PSEN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190709	NM_000447.3(PSEN2):c.566+61A>G	PSEN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196165	NM_000447.3(PSEN2):c.566+80C>T	PSEN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267461	NM_000447.3(PSEN2):c.566+125G>A	PSEN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249594	NM_000447.3(PSEN2):c.566+201A>G	PSEN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 256185	NM_000447.3(PSEN2):c.708T>C (p.Ser236=)	PSEN2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 448151	NM_000447.3(PSEN2):c.712C>T (p.Leu238Phe)	PSEN2 (L238F)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +2 more	GConflicting classifications of pathogenicity
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 1296416	NM_000447.3(PSEN2):c.787+66C>A	PSEN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227438	NM_000447.3(PSEN2):c.787+205C>T	PSEN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326211	NM_000447.3(PSEN2):c.787+245dup	PSEN2	Duplication (intron variant)	not provided	GLikely benign
Select item 1208871	NM_000447.3(PSEN2):c.787+245del	PSEN2	Deletion (intron variant)	not provided	GLikely benign
Select item 1250588	NM_000447.3(PSEN2):c.788-90G>C	PSEN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 295992	NM_000447.3(PSEN2):c.861C>T (p.Pro287=)	PSEN2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1245504	NM_000447.3(PSEN2):c.886+233C>T	PSEN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242083	NM_000447.3(PSEN2):c.887-258T>A	PSEN2	Single nucleotide variant (intron variant)	not provided	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 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 1276807	NM_000447.3(PSEN2):c.970+160C>G	PSEN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296418	NM_000447.3(PSEN2):c.971-143G>C	PSEN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316904	NM_000447.3(PSEN2):c.1072+98G>A	PSEN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707285	NM_000447.3(PSEN2):c.1072+128C>T	PSEN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258256	NM_000447.3(PSEN2):c.1072+155C>T	PSEN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182414	NM_000447.3(PSEN2):c.1072+169C>G	PSEN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272434	NM_000447.3(PSEN2):c.1072+276G>A	PSEN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222590	NM_000447.3(PSEN2):c.1073-86A>G	PSEN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 533782	NM_000447.3(PSEN2):c.1176C>T (p.Phe392=)	PSEN2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
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 1316905	NM_000447.3(PSEN2):c.1191+104C>T	PSEN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227331	NM_000447.3(PSEN2):c.1191+279G>C	PSEN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 8847	NM_000447.3(PSEN2):c.1316A>C (p.Asp439Ala)	PSEN2 (D439A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 253906	GRCh37/hg19 1q42.12-42.13(chr1:226871745-229906954)x1	GJC2, TRIM17 +31 more	Copy number loss	See cases	GUncertain significance
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 54