C3150958[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 295983	NM_000447.3(PSEN2):c.-275C>T	PSEN2	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1V +1 more	GBenign
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 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 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 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 295986	NM_000447.3(PSEN2):c.-43C>T	PSEN2	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1V +1 more	GBenign
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 256184	NM_000447.3(PSEN2):c.69T>C (p.Ala23=)	PSEN2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
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 256180	NM_000447.3(PSEN2):c.129C>T (p.Asn43=)	PSEN2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
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 180476	NM_000447.3(PSEN2):c.149A>G (p.Gln50Arg)	PSEN2 (Q50R)	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)	not specified +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 provided +3 more	GBenign/Likely benign
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 256181	NM_000447.3(PSEN2):c.261C>T (p.His87=)	PSEN2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 706267	NM_000447.3(PSEN2):c.300C>T (p.Ile100=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4 +1 more	GConflicting classifications of pathogenicity
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 256182	NM_000447.3(PSEN2):c.366G>A (p.Thr122=)	PSEN2	Single nucleotide variant (synonymous variant)	not specified +3 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 condition +4 more	GBenign/Likely benign
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 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 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 743080	NM_000447.3(PSEN2):c.639A>G (p.Ala213=)	PSEN2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 295991	NM_000447.3(PSEN2):c.690C>G (p.Ala230=)	PSEN2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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 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)	not specified +2 more	GConflicting classifications of pathogenicity
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 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 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 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 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 876474	NM_000447.3(PSEN2):c.1304G>A (p.Arg435Gln)	PSEN2 (R434Q +1 more)	Single nucleotide variant (missense 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 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 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 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 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 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 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 296001	NM_000447.3(PSEN2):c.*270C>T	PSEN2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
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 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 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 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 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 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 296005	NM_000447.3(PSEN2):c.*487G>C	PSEN2	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1V +1 more	GBenign/Likely benign

ClinVar

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Items: 60