ClinVar for Gene (Select 5664) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 326

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380653	NM_000447.3(PSEN2):c.1024C>T (p.Pro342Ser)	PSEN2 (P341S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380643	NM_000447.3(PSEN2):c.50G>A (p.Arg17Gln)	PSEN2 (R17Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366709	NM_000447.3(PSEN2):c.872C>T (p.Ala291Val)	PSEN2 (A291V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3347468	NM_000447.3(PSEN2):c.421A>G (p.Asn141Asp)	PSEN2 (N141D)	Single nucleotide variant (missense variant)	PSEN2-related disorder	GUncertain significance
Select item 3336560	NM_000447.3(PSEN2):c.1190T>C (p.Ile397Thr)	PSEN2 (I396T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336470	NM_000447.3(PSEN2):c.886+9G>C	PSEN2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3310853	NM_000447.3(PSEN2):c.147C>G (p.Ser49Arg)	PSEN2 (S49R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257162	NC_000001.11:g.226917519T>A	PSEN2	Single nucleotide variant	not provided	GUncertain significance
Select item 3254878	NM_000447.3(PSEN2):c.16G>A (p.Ala6Thr)	PSEN2 (A6T)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 3251598	NM_000447.3(PSEN2):c.1305G>T (p.Arg435=)	PSEN2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3247986	NC_000001.10:g.(?_225591005)_(227174438_?)del	ACBD3, COQ8A +16 more	Deletion	not provided	GPathogenic
Select item 3239595	NM_000447.3(PSEN2):c.368C>T (p.Pro123Leu)	PSEN2 (P123L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3238991	NC_000001.11:g.226917609G>A	PSEN2	Single nucleotide variant	not provided	GLikely benign
Select item 3220182	NM_000447.3(PSEN2):c.773C>A (p.Ala258Asp)	PSEN2 (A258D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068876	NM_000447.3(PSEN2):c.989G>C (p.Ser330Thr)	PSEN2 (S329T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055236	NM_000447.3(PSEN2):c.1272C>T (p.Leu424=)	PSEN2	Single nucleotide variant (synonymous variant)	PSEN2-related disorder	GLikely benign
Select item 3048009	NM_000447.3(PSEN2):c.1130C>T (p.Ala377Val)	PSEN2 (A376V +1 more)	Single nucleotide variant (missense variant)	PSEN2-related disorder	GUncertain significance
Select item 3047021	NM_000447.3(PSEN2):c.375T>C (p.Thr125=)	PSEN2	Single nucleotide variant (synonymous variant)	PSEN2-related disorder	GLikely benign
Select item 3043063	NM_000447.3(PSEN2):c.1263G>A (p.Thr421=)	PSEN2	Single nucleotide variant (synonymous variant)	PSEN2-related disorder	GLikely benign
Select item 3031236	NM_000447.3(PSEN2):c.693C>T (p.Tyr231=)	PSEN2	Single nucleotide variant (synonymous variant)	PSEN2-related disorder	GLikely benign
Select item 3018022	NM_000447.3(PSEN2):c.1240C>T (p.Pro414Ser)	PSEN2 (P413S +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 3011675	NM_000447.3(PSEN2):c.499-15A>G	PSEN2	Single nucleotide variant (intron variant)	Alzheimer disease 4	GUncertain significance
Select item 3010845	NM_000447.3(PSEN2):c.864A>G (p.Ile288Met)	PSEN2 (I288M)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 3008031	NM_000447.3(PSEN2):c.842C>A (p.Ala281Asp)	PSEN2 (A281D)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 2989307	NM_000447.3(PSEN2):c.1040_1041del (p.Tyr347fs)	PSEN2 (Y346fs +1 more)	Deletion (frameshift variant)	Alzheimer disease 4	GUncertain significance
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 2977726	NM_000447.3(PSEN2):c.427C>T (p.Leu143Phe)	PSEN2 (L143F)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 2920003	NM_000447.3(PSEN2):c.589G>A (p.Val197Met)	PSEN2 (V197M)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 2911282	NM_000447.3(PSEN2):c.165C>A (p.Asp55Glu)	PSEN2 (D55E)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 2876136	NM_000447.3(PSEN2):c.1236G>A (p.Ala412=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 2875189	NM_000447.3(PSEN2):c.537G>A (p.Leu179=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 2857944	NM_000447.3(PSEN2):c.588T>C (p.Asn196=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 2812831	NM_000447.3(PSEN2):c.880T>G (p.Tyr294Asp)	PSEN2 (Y294D)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 2810305	NM_000447.3(PSEN2):c.436A>T (p.Ile146Phe)	PSEN2 (I146F)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 2790731	NM_000447.3(PSEN2):c.887-4C>G	PSEN2	Single nucleotide variant (intron variant)	Alzheimer disease 4	GLikely benign
Select item 2782904	NM_000447.3(PSEN2):c.622G>A (p.Val208Ile)	PSEN2 (V208I)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 2777762	NM_000447.3(PSEN2):c.1092C>T (p.Leu364=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 2731277	NM_000447.3(PSEN2):c.348T>C (p.Asn116=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 2729756	NM_000447.3(PSEN2):c.1307C>T (p.Pro436Leu)	PSEN2 (P435L +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 2727425	NM_000447.3(PSEN2):c.566G>C (p.Gly189Ala)	PSEN2 (G189A)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 2727170	NM_000447.3(PSEN2):c.1023G>A (p.Glu341=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 2725686	NM_000447.3(PSEN2):c.788-14C>T	PSEN2	Single nucleotide variant (intron variant)	Alzheimer disease 4	GLikely benign
Select item 2725501	NM_000447.3(PSEN2):c.390G>A (p.Ser130=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 2724360	NM_000447.3(PSEN2):c.1073-10C>G	PSEN2	Single nucleotide variant (intron variant)	Alzheimer disease 4	GUncertain significance
Select item 2722207	NM_000447.3(PSEN2):c.349G>A (p.Gly117Arg)	PSEN2 (G117R)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 2707956	NM_000447.3(PSEN2):c.1005A>T (p.Ser335=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 2697298	NM_000447.3(PSEN2):c.194G>A (p.Cys65Tyr)	PSEN2 (C65Y)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 2691335	NM_000447.3(PSEN2):c.457del (p.Thr153fs)	PSEN2 (T153fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 2682720	NM_000447.3(PSEN2):c.292_293del (p.Cys98fs)	PSEN2 (C98fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2639974	NM_000447.3(PSEN2):c.926C>A (p.Pro309His)	PSEN2 (P309H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639973	NM_000447.3(PSEN2):c.665A>C (p.Lys222Thr)	PSEN2 (K222T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639972	NM_000447.3(PSEN2):c.249C>T (p.Tyr83=)	PSEN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2632528	NM_000447.3(PSEN2):c.2T>G (p.Met1Arg)	PSEN2 (M1R)	Single nucleotide variant (missense variant +1 more)	PSEN2-related disorder	GUncertain significance
Select item 2630922	NM_000447.3(PSEN2):c.105G>T (p.Arg35Ser)	PSEN2 (R35S)	Single nucleotide variant (missense variant)	PSEN2-related disorder	GUncertain significance
Select item 2531235	NM_000447.3(PSEN2):c.1168G>T (p.Ala390Ser)	PSEN2 (A390S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498447	NM_000447.3(PSEN2):c.904G>T (p.Val302Phe)	PSEN2 (V302F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2488385	NM_000447.3(PSEN2):c.1288A>G (p.Thr430Ala)	PSEN2 (T429A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2435272	NM_000447.3(PSEN2):c.506A>G (p.His169Arg)	PSEN2 (H169R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431452	NM_000447.3(PSEN2):c.499-10T>C	PSEN2	Single nucleotide variant (intron variant)	Alzheimer disease 4	GUncertain significance
Select item 2422055	NM_000447.3(PSEN2):c.255G>A (p.Ala85=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 2421135	NM_000447.3(PSEN2):c.1009C>T (p.Pro337Ser)	PSEN2 (P336S +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 2408050	NM_000447.3(PSEN2):c.1260C>G (p.Ile420Met)	PSEN2 (I419M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282340	NM_000447.3(PSEN2):c.217C>T (p.Pro73Ser)	PSEN2 (P73S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239312	NM_000447.3(PSEN2):c.992T>C (p.Phe331Ser)	PSEN2 (F330S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202993	NM_000447.3(PSEN2):c.713T>C (p.Leu238Pro)	PSEN2 (L238P)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 2202247	NM_000447.3(PSEN2):c.1269G>T (p.Gly423=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 2195064	NM_000447.3(PSEN2):c.348T>A (p.Asn116Lys)	PSEN2 (N116K)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 2183321	NM_000447.3(PSEN2):c.216G>A (p.Pro72=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 2168312	NM_000447.3(PSEN2):c.142-16A>C	PSEN2	Single nucleotide variant (intron variant)	Alzheimer disease 4	GLikely benign
Select item 2167079	NM_000447.3(PSEN2):c.1209C>G (p.Leu403=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 2162981	NM_000447.3(PSEN2):c.886+15C>T	PSEN2	Single nucleotide variant (intron variant)	Alzheimer disease 4	GLikely benign
Select item 2145486	NM_000447.3(PSEN2):c.1303C>T (p.Arg435Trp)	PSEN2 (R434W +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GLikely benign
Select item 2140885	NM_000447.3(PSEN2):c.387C>T (p.Pro129=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 2140562	NM_000447.3(PSEN2):c.744A>G (p.Pro248=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 2140076	NM_000447.3(PSEN2):c.306G>A (p.Val102=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 2117846	NM_000447.3(PSEN2):c.260_261delinsTT (p.His87Leu)	PSEN2 (H87L)	Indel (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 2085141	NM_000447.3(PSEN2):c.971-18C>T	PSEN2	Single nucleotide variant (intron variant)	Alzheimer disease 4	GLikely benign
Select item 2079982	NM_000447.3(PSEN2):c.356+11_356+13del	PSEN2	Deletion (intron variant)	Alzheimer disease 4	GLikely benign
Select item 2065416	NM_000447.3(PSEN2):c.1242C>T (p.Pro414=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 2052418	NM_000447.3(PSEN2):c.54G>A (p.Thr18=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 2047817	NM_000447.3(PSEN2):c.328C>T (p.Arg110Cys)	PSEN2 (R110C)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 2045317	NM_000447.3(PSEN2):c.294C>T (p.Cys98=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 2044421	NM_000447.3(PSEN2):c.142-17G>A	PSEN2	Single nucleotide variant (intron variant)	Alzheimer disease 4	GLikely benign
Select item 2038073	NM_000447.3(PSEN2):c.877A>T (p.Ile293Leu)	PSEN2 (I293L)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 2037780	NM_000447.3(PSEN2):c.633C>T (p.Phe211=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 2037006	NM_000447.3(PSEN2):c.893T>C (p.Met298Thr)	PSEN2 (M298T)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 1988335	NM_000447.3(PSEN2):c.1191+8G>C	PSEN2	Single nucleotide variant (intron variant)	Alzheimer disease 4	GLikely benign
Select item 1983760	NM_000447.3(PSEN2):c.1005A>G (p.Ser335=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 1960208	NM_000447.3(PSEN2):c.1243G>A (p.Ala415Thr)	PSEN2 (A414T +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 1921409	NM_000447.3(PSEN2):c.539T>C (p.Leu180Pro)	PSEN2 (L180P)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
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
Select item 1802211	NM_000447.3(PSEN2):c.250G>A (p.Gly84Arg)	PSEN2 (G84R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1V	GUncertain significance
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1707285	NM_000447.3(PSEN2):c.1072+128C>T	PSEN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1685046	NM_000447.3(PSEN2):c.140G>A (p.Trp47Ter)	PSEN2 (W47*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 1678339	NM_000447.3(PSEN2):c.902C>T (p.Thr301Met)	PSEN2 (T301M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

<< First< Prev

Page of 4