ClinVar for MedGen (Select 463620) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1518360	NM_000021.4(PSEN1):c.1377A>G (p.Gln459=)	PSEN1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia +5 more	GConflicting classifications of pathogenicity
Select item 887941	NM_000021.4(PSEN1):c.*3789G>A	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GUncertain significance
Select item 887940	NM_000021.4(PSEN1):c.*3669G>A	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GUncertain significance
Select item 887877	NM_000021.4(PSEN1):c.*3321G>C	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GUncertain significance
Select item 887876	NM_000021.4(PSEN1):c.*3130C>T	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GUncertain significance
Select item 887815	NM_000021.4(PSEN1):c.*2357T>A	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GUncertain significance
Select item 887685	NM_000021.4(PSEN1):c.*807G>A	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GUncertain significance
Select item 887684	NM_000021.4(PSEN1):c.*801C>T	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GUncertain significance
Select item 887628	NM_000021.4(PSEN1):c.*230G>T	PSEN1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 887627	NM_000021.4(PSEN1):c.*229C>T	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GUncertain significance
Select item 887626	NM_000021.4(PSEN1):c.*166T>A	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GConflicting classifications of pathogenicity
Select item 887565	NM_000021.4(PSEN1):c.375G>C (p.Val125=)	PSEN1	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +1 more	GUncertain significance
Select item 887369	NM_000021.4(PSEN1):c.125G>A (p.Arg42Gln)	PSEN1 (R38Q +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +4 more	GUncertain significance
Select item 887368	NM_000021.4(PSEN1):c.80G>A (p.Arg27His)	PSEN1 (R27H)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 886734	NM_000021.4(PSEN1):c.*4338A>G	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GUncertain significance
Select item 886681	NM_000021.4(PSEN1):c.*3566A>G	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +2 more	GBenign/Likely benign
Select item 886629	NM_000021.4(PSEN1):c.*2846G>A	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GUncertain significance
Select item 886561	NM_000021.4(PSEN1):c.*2017A>T	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GConflicting classifications of pathogenicity
Select item 886495	NM_000021.4(PSEN1):c.*1625A>G	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GUncertain significance
Select item 886494	NM_000021.4(PSEN1):c.*1484A>C	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GConflicting classifications of pathogenicity
Select item 886435	NM_000021.4(PSEN1):c.*657C>T	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GUncertain significance
Select item 886434	NM_000021.4(PSEN1):c.*562T>C	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GUncertain significance
Select item 886433	NM_000021.4(PSEN1):c.*449T>C	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GBenign/Likely benign
Select item 886374	NM_000021.4(PSEN1):c.-201A>C	PSEN1	Single nucleotide variant (5 prime UTR variant)	Alzheimer disease 3 +1 more	GUncertain significance
Select item 885730	NM_000021.4(PSEN1):c.*4113G>A	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GConflicting classifications of pathogenicity
Select item 885670	NM_000021.4(PSEN1):c.*3538C>G	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GBenign/Likely benign
Select item 885669	NM_000021.4(PSEN1):c.*3508G>A	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GConflicting classifications of pathogenicity
Select item 885610	NM_000021.4(PSEN1):c.*2695G>A	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GUncertain significance
Select item 885609	NM_000021.4(PSEN1):c.*2604C>T	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GUncertain significance
Select item 885537	NM_000021.4(PSEN1):c.*1980C>T	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GUncertain significance
Select item 885536	NM_000021.4(PSEN1):c.*1910A>G	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GUncertain significance
Select item 885535	NM_000021.4(PSEN1):c.*1889A>G	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GUncertain significance
Select item 885476	NM_000021.4(PSEN1):c.*1316G>T	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GUncertain significance
Select item 885416	NM_000021.4(PSEN1):c.*438C>T	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GUncertain significance
Select item 885415	NM_000021.4(PSEN1):c.*400G>A	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GUncertain significance
Select item 885414	NM_000021.4(PSEN1):c.*390T>G	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +4 more	GUncertain significance
Select item 885342	NM_000021.4(PSEN1):c.1167C>T (p.Tyr389=)	PSEN1	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +1 more	GUncertain significance
Select item 884793	NM_000021.4(PSEN1):c.*3831C>T	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GBenign/Likely benign
Select item 884731	NM_000021.4(PSEN1):c.*3484A>C	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GUncertain significance
Select item 884730	NM_000021.4(PSEN1):c.*3358A>G	PSEN1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 884729	NM_000021.4(PSEN1):c.*3328C>G	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GConflicting classifications of pathogenicity
Select item 884667	NM_000021.4(PSEN1):c.*2580C>T	PSEN1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 884666	NM_000021.4(PSEN1):c.*2543C>T	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GConflicting classifications of pathogenicity
Select item 884602	NM_000021.4(PSEN1):c.*1884G>T	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GUncertain significance
Select item 884601	NM_000021.4(PSEN1):c.*1858T>A	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GUncertain significance
Select item 884476	NM_000021.4(PSEN1):c.*328C>T	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GUncertain significance
Select item 884475	NM_000021.4(PSEN1):c.*265A>G	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GUncertain significance
Select item 884412	NM_000021.4(PSEN1):c.843G>A (p.Thr281=)	PSEN1	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +1 more	GConflicting classifications of pathogenicity
Select item 884411	NM_000021.4(PSEN1):c.784T>C (p.Leu262=)	PSEN1	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +1 more	GUncertain significance
Select item 723135	NM_000021.4(PSEN1):c.792G>T (p.Pro264=)	PSEN1	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +4 more	GConflicting classifications of pathogenicity
Select item 707810	NM_000021.4(PSEN1):c.234C>T (p.Gly78=)	PSEN1	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +5 more	GConflicting classifications of pathogenicity
Select item 643888	NM_000021.4(PSEN1):c.1078G>A (p.Ala360Thr)	PSEN1 (A360T +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +4 more	GUncertain significance
Select item 599627	NM_000021.4(PSEN1):c.424G>A (p.Val142Ile)	PSEN1 (V142I +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease +5 more	GConflicting classifications of pathogenicity
Select item 314010	NM_000021.4(PSEN1):c.*4367T>C	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GUncertain significance
Select item 314009	NM_000021.4(PSEN1):c.*4339T>C	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GUncertain significance
Select item 314008	NM_000021.4(PSEN1):c.*4147T>G	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GBenign/Likely benign
Select item 314007	NM_000021.4(PSEN1):c.*4095A>G	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GUncertain significance
Select item 314006	NM_000021.4(PSEN1):c.*4078C>T	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GUncertain significance
Select item 314005	NM_000021.4(PSEN1):c.*4030A>G	PSEN1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 314004	NM_000021.4(PSEN1):c.*3941C>A	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GConflicting classifications of pathogenicity
Select item 314003	NM_000021.4(PSEN1):c.*3889G>A	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +2 more	GBenign/Likely benign
Select item 314002	NM_000021.4(PSEN1):c.*3848G>C	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GUncertain significance
Select item 314001	NM_000021.4(PSEN1):c.*3823G>A	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GBenign/Likely benign
Select item 314000	NM_000021.4(PSEN1):c.*3722C>T	PSEN1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 313999	NM_000021.4(PSEN1):c.*3637C>T	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GBenign/Likely benign
Select item 313998	NM_000021.4(PSEN1):c.*3632G>A	PSEN1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 313997	NM_000021.4(PSEN1):c.*3619A>G	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GUncertain significance
Select item 313996	NM_000021.4(PSEN1):c.*3525A>G	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GBenign/Likely benign
Select item 313995	NM_000021.4(PSEN1):c.*3495A>G	PSEN1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 313994	NM_000021.4(PSEN1):c.*3360A>G	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GBenign/Likely benign
Select item 313993	NM_000021.4(PSEN1):c.*3199C>T	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GUncertain significance
Select item 313991	NM_000021.4(PSEN1):c.*2865C>A	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GUncertain significance
Select item 313990	NM_000021.4(PSEN1):c.*2864A>C	PSEN1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 313989	NM_000021.4(PSEN1):c.*2836C>T	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GUncertain significance
Select item 313988	NM_000021.4(PSEN1):c.*2758T>G	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GUncertain significance
Select item 313987	NM_000021.4(PSEN1):c.*2659A>T	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GUncertain significance
Select item 313986	NM_000021.4(PSEN1):c.*2633G>A	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GUncertain significance
Select item 313985	NM_000021.4(PSEN1):c.*2529G>T	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GConflicting classifications of pathogenicity
Select item 313984	NM_000021.4(PSEN1):c.*2430T>C	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GBenign/Likely benign
Select item 313983	NM_000021.4(PSEN1):c.*2401C>T	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GUncertain significance
Select item 313982	NM_000021.4(PSEN1):c.*2330G>T	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GUncertain significance
Select item 313981	NM_000021.4(PSEN1):c.*2325A>G	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GUncertain significance
Select item 313980	NM_000021.4(PSEN1):c.*2161G>A	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GUncertain significance
Select item 313979	NM_000021.4(PSEN1):c.*2160C>T	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GUncertain significance
Select item 313978	NM_000021.4(PSEN1):c.*2108G>A	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GConflicting classifications of pathogenicity
Select item 313977	NM_000021.4(PSEN1):c.*1958T>C	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GUncertain significance
Select item 313976	NM_000021.4(PSEN1):c.*1874G>T	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GUncertain significance
Select item 313974	NM_000021.4(PSEN1):c.*1792T>C	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GUncertain significance
Select item 313973	NM_000021.4(PSEN1):c.*1791A>T	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GBenign/Likely benign
Select item 313972	NM_000021.4(PSEN1):c.*1725A>G	PSEN1	Single nucleotide variant (3 prime UTR variant)	Alzheimer disease 3 +1 more	GUncertain significance
Select item 313970	NM_000021.4(PSEN1):c.*1690T>C	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GBenign/Likely benign
Select item 313969	NM_000021.4(PSEN1):c.*1626C>A	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GUncertain significance
Select item 313968	NM_000021.4(PSEN1):c.*1585A>T	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GUncertain significance
Select item 313967	NM_000021.4(PSEN1):c.*1418G>A	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GUncertain significance
Select item 313965	NM_000021.4(PSEN1):c.*1381G>A	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +2 more	GConflicting classifications of pathogenicity
Select item 313964	NM_000021.4(PSEN1):c.*1380C>T	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GUncertain significance
Select item 313963	NM_000021.4(PSEN1):c.*1360G>C	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GUncertain significance
Select item 313962	NM_000021.4(PSEN1):c.*1147C>T	PSEN1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 313961	NM_000021.4(PSEN1):c.*1145G>A	PSEN1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GUncertain significance
Select item 313960	NM_000021.4(PSEN1):c.*947G>A	PSEN1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign

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