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

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 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 specified +3 more	GBenign
Select item 256180	NM_000447.3(PSEN2):c.129C>T (p.Asn43=)	PSEN2	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1V +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)	not provided +2 more	GBenign
Select item 1261389	NM_000447.3(PSEN2):c.142-29T>C	PSEN2	Single nucleotide variant (intron variant)	not provided +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 +2 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 specified +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)	Dilated cardiomyopathy 1V +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)	Alzheimer disease 4 +3 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 256186	NM_000447.3(PSEN2):c.756G>C (p.Ala252=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4 +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 2985383	NM_000447.3(PSEN2):c.850A>G (p.Arg284Gly)	PSEN2 (R284G)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +1 more	GConflicting classifications of pathogenicity
Select item 295992	NM_000447.3(PSEN2):c.861C>T (p.Pro287=)	PSEN2	Single nucleotide variant (synonymous variant)	not provided +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 specified +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)	Dilated cardiomyopathy 1V +3 more	GBenign/Likely benign
Select item 1244107	NM_000447.3(PSEN2):c.1191+24G>A	PSEN2	Single nucleotide variant (intron variant)	not provided +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)	Alzheimer disease 4 +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

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Items: 55