ClinVar for MedGen (Select 376072) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 214

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 1678339	NM_000447.3(PSEN2):c.902C>T (p.Thr301Met)	PSEN2 (T301M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1669912	NM_000447.3(PSEN2):c.519C>T (p.Ile173=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 1626403	NM_000447.3(PSEN2):c.273G>C (p.Leu91=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 1623792	NM_000447.3(PSEN2):c.177C>T (p.Asp59=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 1621501	NM_000447.3(PSEN2):c.787+8G>A	PSEN2	Single nucleotide variant (intron variant)	Alzheimer disease 4	GLikely benign
Select item 1617166	NM_000447.3(PSEN2):c.156C>T (p.Asn52=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 1595235	NM_000447.3(PSEN2):c.141+11C>G	PSEN2	Single nucleotide variant (intron variant)	Alzheimer disease 4	GLikely benign
Select item 1579330	NM_000447.3(PSEN2):c.1269G>A (p.Gly423=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 1573053	NM_000447.3(PSEN2):c.165C>T (p.Asp55=)	PSEN2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1563960	NM_000447.3(PSEN2):c.372C>T (p.Phe124=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 1555813	NM_000447.3(PSEN2):c.886+16G>A	PSEN2	Single nucleotide variant (intron variant)	Alzheimer disease 4 +1 more	GBenign/Likely benign
Select item 1552478	NM_000447.3(PSEN2):c.1011C>T (p.Pro337=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 1501037	NM_000447.3(PSEN2):c.887-3C>T	PSEN2	Single nucleotide variant (intron variant)	Alzheimer disease 4	GUncertain significance
Select item 1480094	NM_000447.3(PSEN2):c.671C>T (p.Pro224Leu)	PSEN2 (P224L)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 1476919	NM_000447.3(PSEN2):c.1046G>A (p.Gly349Glu)	PSEN2 (G348E +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 1464398	NM_000447.3(PSEN2):c.298A>G (p.Ile100Val)	PSEN2 (I100V)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 1448178	NM_000447.3(PSEN2):c.1160C>T (p.Thr387Ile)	PSEN2 (T386I +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +1 more	GUncertain significance
Select item 1446296	NM_000447.3(PSEN2):c.85C>T (p.Arg29Cys)	PSEN2 (R29C)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +3 more	GUncertain significance
Select item 1433525	NM_000447.3(PSEN2):c.956A>G (p.Tyr319Cys)	PSEN2 (Y319C)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 1413607	NM_000447.3(PSEN2):c.81_82delinsAA (p.Pro28Thr)	PSEN2 (P28T)	Indel (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 1401811	NM_000447.3(PSEN2):c.277G>A (p.Val93Met)	PSEN2 (V93M)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 1358917	NM_000447.3(PSEN2):c.139T>G (p.Trp47Gly)	PSEN2 (W47G)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 1346683	NM_000447.3(PSEN2):c.1330C>T (p.His444Tyr)	PSEN2 (H444Y +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 1315806	NM_000041.4(APOE):c.688G>A (p.Glu230Lys)	APOE (E230K +1 more)	Single nucleotide variant (missense variant)	Lipoprotein glomerulopathy +7 more	GUncertain significance
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 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 1244275	NM_000447.3(PSEN2):c.887-24T>C	PSEN2	Single nucleotide variant (intron variant)	Alzheimer disease 4 +2 more	GBenign
Select item 1244107	NM_000447.3(PSEN2):c.1191+24G>A	PSEN2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1210034	NM_000041.4(APOE):c.69G>A (p.Ala23=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GLikely benign
Select item 1156956	NM_000447.3(PSEN2):c.201G>C (p.Gly67=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 1138817	NM_000447.3(PSEN2):c.971-9G>C	PSEN2	Single nucleotide variant (intron variant)	Alzheimer disease 4	GLikely benign
Select item 1133414	NM_000447.3(PSEN2):c.1284C>T (p.Phe428=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 1121763	NM_000447.3(PSEN2):c.843C>T (p.Ala281=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 1109607	NM_000447.3(PSEN2):c.1257C>T (p.Ser419=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 1100640	NM_000447.3(PSEN2):c.505C>A (p.His169Asn)	PSEN2 (H169N)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +1 more	GBenign/Likely benign
Select item 1063072	NM_000447.3(PSEN2):c.260_261inv (p.His87Arg)	PSEN2 (H87R)	Inversion (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 1054623	NM_000447.3(PSEN2):c.203T>C (p.Val68Ala)	PSEN2 (V68A)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +1 more	GUncertain significance
Select item 1050746	NM_000447.3(PSEN2):c.640G>T (p.Val214Leu)	PSEN2 (V214L)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +1 more	GBenign/Likely benign
Select item 1021859	NM_000447.3(PSEN2):c.401G>A (p.Arg134His)	PSEN2 (R134H)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 972418	NM_000447.3(PSEN2):c.482A>G (p.Lys161Arg)	PSEN2 (K161R)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 947401	NM_000447.3(PSEN2):c.928T>C (p.Ser310Pro)	PSEN2 (S310P)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
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

<< First< Prev

Page of 3