9509[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
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 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 155156	GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1	ABCB10, ACBD3 +309 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 146517	GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	ABCB10, ACBD3 +313 more	Copy number loss	See cases	GPathogenic
Select item 295979	NM_000447.2(PSEN2):c.-400C>T	LOC129932678, PSEN2	Single nucleotide variant	Early-onset autosomal dominant Alzheimer disease +1 more	GLikely benign
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 1677327	NM_000447.3(PSEN2):c.-349-115A>G	PSEN2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 533784	NC_000001.11:g.(?_226881888)_(226895599_?)del	LOC129388763, LOC129932680 +1 more	Deletion	Alzheimer disease 4	GPathogenic
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 3254878	NM_000447.3(PSEN2):c.16G>A (p.Ala6Thr)	PSEN2 (A6T)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 191768	NM_000447.3(PSEN2):c.25A>G (p.Ser9Gly)	PSEN2 (S9G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256548	NM_000447.3(PSEN2):c.31del (p.Glu11fs)	PSEN2 (E11fs)	Deletion (frameshift variant)	not provided	GUncertain significance
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 191769	NM_000447.3(PSEN2):c.49C>T (p.Arg17Trp)	PSEN2 (R17W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 872950	NM_000447.3(PSEN2):c.53C>T (p.Thr18Met)	PSEN2 (T18M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 448150	NM_000447.3(PSEN2):c.66G>A (p.Ser22=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4 +2 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 855512	NM_000447.3(PSEN2):c.80C>T (p.Thr27Met)	PSEN2 (T27M)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +1 more	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 748858	NM_000447.3(PSEN2):c.84G>A (p.Pro28=)	PSEN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 586387	NM_000447.3(PSEN2):c.89C>T (p.Ser30Phe)	PSEN2 (S30F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2630922	NM_000447.3(PSEN2):c.105G>T (p.Arg35Ser)	PSEN2 (R35S)	Single nucleotide variant (missense variant)	PSEN2-related disorder	GUncertain significance
Select item 763447	NM_000447.3(PSEN2):c.120T>C (p.Asp40=)	PSEN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 256180	NM_000447.3(PSEN2):c.129C>T (p.Asn43=)	PSEN2	Single nucleotide variant (synonymous variant)	not provided +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 1358917	NM_000447.3(PSEN2):c.139T>G (p.Trp47Gly)	PSEN2 (W47G)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 1685046	NM_000447.3(PSEN2):c.140G>A (p.Trp47Ter)	PSEN2 (W47*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 1595235	NM_000447.3(PSEN2):c.141+11C>G	PSEN2	Single nucleotide variant (intron variant)	Alzheimer disease 4	GLikely benign
Select item 1217123	NM_000447.3(PSEN2):c.141+30A>G	PSEN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318483	NM_000447.3(PSEN2):c.141+58A>G	PSEN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234987	NM_000447.3(PSEN2):c.141+125C>G	LOC129388763, PSEN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263954	NM_000447.3(PSEN2):c.142-42G>A	PSEN2	Single nucleotide variant (intron variant)	Alzheimer disease 4 +2 more	GBenign
Select item 1261389	NM_000447.3(PSEN2):c.142-29T>C	PSEN2	Single nucleotide variant (intron variant)	Alzheimer disease 4 +2 more	GBenign
Select item 1226767	NM_000447.3(PSEN2):c.142-23C>T	PSEN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2044421	NM_000447.3(PSEN2):c.142-17G>A	PSEN2	Single nucleotide variant (intron 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 3310853	NM_000447.3(PSEN2):c.147C>G (p.Ser49Arg)	PSEN2 (S49R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 180476	NM_000447.3(PSEN2):c.149A>G (p.Gln50Arg)	PSEN2 (Q50R)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +3 more	GConflicting classifications of pathogenicity
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 705672	NM_000447.3(PSEN2):c.162G>C (p.Glu54Asp)	PSEN2 (E54D)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +1 more	GLikely benign
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 1573053	NM_000447.3(PSEN2):c.165C>T (p.Asp55=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 191770	NM_000447.3(PSEN2):c.166G>A (p.Gly56Ser)	PSEN2 (G56S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 567646	NM_000447.3(PSEN2):c.184C>T (p.Arg62Cys)	PSEN2 (R62C)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +3 more	GUncertain significance
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 2697298	NM_000447.3(PSEN2):c.194G>A (p.Cys65Tyr)	PSEN2 (C65Y)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
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 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 191771	NM_000447.3(PSEN2):c.205C>G (p.Pro69Ala)	PSEN2 (P69A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 772702	NM_000447.3(PSEN2):c.207C>T (p.Pro69=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
Select item 192129	NM_000447.3(PSEN2):c.208G>A (p.Gly70Arg)	PSEN2 (G70R)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +2 more	GConflicting classifications of pathogenicity
Select item 192130	NM_000447.3(PSEN2):c.211C>T (p.Arg71Trp)	PSEN2 (R71W)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1V +3 more	GBenign/Likely benign
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 2282340	NM_000447.3(PSEN2):c.217C>T (p.Pro73Ser)	PSEN2 (P73S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 729780	NM_000447.3(PSEN2):c.219A>C (p.Pro73=)	PSEN2	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 2442519	NM_000447.3(PSEN2):c.236T>C (p.Leu79Pro)	PSEN2 (L79P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 646449	NM_000447.3(PSEN2):c.241C>T (p.Leu81Phe)	PSEN2 (L81F)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 806368	NM_000447.3(PSEN2):c.245A>C (p.Lys82Thr)	PSEN2 (K82T)	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 1802211	NM_000447.3(PSEN2):c.250G>A (p.Gly84Arg)	PSEN2 (G84R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1V	GUncertain significance
Select item 8853	NM_000447.3(PSEN2):c.254C>T (p.Ala85Val)	PSEN2 (A85V)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GPathogenic
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 2117846	NM_000447.3(PSEN2):c.260_261delinsTT (p.His87Leu)	PSEN2 (H87L)	Indel (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 1063072	NM_000447.3(PSEN2):c.260_261inv (p.His87Arg)	PSEN2 (H87R)	Inversion (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 256181	NM_000447.3(PSEN2):c.261C>T (p.His87=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4 +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 1626403	NM_000447.3(PSEN2):c.273G>C (p.Leu91=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign
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 533783	NM_000447.3(PSEN2):c.279G>C (p.Val93=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4 +1 more	GLikely benign
Select item 2682720	NM_000447.3(PSEN2):c.292_293del (p.Cys98fs)	PSEN2 (C98fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2045317	NM_000447.3(PSEN2):c.294C>T (p.Cys98=)	PSEN2	Single nucleotide variant (synonymous variant)	PSEN2-related disorder +1 more	GLikely benign
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 706267	NM_000447.3(PSEN2):c.300C>T (p.Ile100=)	PSEN2	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1V +1 more	GConflicting classifications of pathogenicity
Select item 651353	NM_000447.3(PSEN2):c.305T>C (p.Val102Ala)	PSEN2 (V102A)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GUncertain significance
Select item 2140076	NM_000447.3(PSEN2):c.306G>A (p.Val102=)	PSEN2	Single nucleotide variant (synonymous variant)	Alzheimer disease 4	GLikely benign

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