"Athena Diagnostics"[submitter] AND "PSEN2"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1256548	NM_000447.3(PSEN2):c.31del (p.Glu11fs)	PSEN2 (E11fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 448150	NM_000447.3(PSEN2):c.66G>A (p.Ser22=)	PSEN2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely 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 586387	NM_000447.3(PSEN2):c.89C>T (p.Ser30Phe)	PSEN2 (S30F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 191770	NM_000447.3(PSEN2):c.166G>A (p.Gly56Ser)	PSEN2 (G56S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 192130	NM_000447.3(PSEN2):c.211C>T (p.Arg71Trp)	PSEN2 (R71W)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
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 448148	NM_000447.3(PSEN2):c.262G>A (p.Val88Met)	PSEN2 (V88M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 295989	NM_000447.3(PSEN2):c.336C>T (p.Tyr112=)	PSEN2	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 8849	NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro)	PSEN2 (T122P)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 8852	NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu)	PSEN2 (S130L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 448149	NM_000447.3(PSEN2):c.415G>A (p.Val139Met)	PSEN2 (V139M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 533781	NM_000447.3(PSEN2):c.423C>T (p.Asn141=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4 +1 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 695724	NM_000447.3(PSEN2):c.520A>G (p.Met174Val)	PSEN2 (M174V)	Single nucleotide variant (missense 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 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 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 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 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 805253	NM_000447.3(PSEN2):c.1139C>T (p.Thr380Met)	PSEN2 (T380M +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +1 more	GUncertain significance
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 1807409	NM_000447.3(PSEN2):c.1197G>T (p.Leu399Phe)	PSEN2 (L398F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 27