5663[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	LOC130056152, LOC130056153 +503 more	Copy number loss	See cases	GPathogenic
Select item 58331	GRCh38/hg38 14q24.2-24.3(chr14:72886764-73367226)x3	DCAF4, DPF3 +23 more	Copy number gain	See cases	GUncertain significance
Select item 1701234	NC_000014.9:g.73133653A>G	PSEN1	Single nucleotide variant	not provided	GUncertain significance
Select item 464899	NM_000021.3(PSEN1):c.-528C>G	PSEN1	Single nucleotide variant	PSEN1-related disorder +5 more	GBenign/Likely benign
Select item 1168490	NC_000014.9:g.73136378del	PSEN1	Deletion	Alzheimer disease 3 +3 more	GBenign
Select item 369076	NM_000021.3(PSEN1):c.-296C>T	PSEN1	Single nucleotide variant (genic upstream transcript variant)	Early-onset autosomal dominant Alzheimer disease +5 more	GBenign/Likely benign
Select item 313939	NM_000021.3(PSEN1):c.-241G>T	PSEN1	Single nucleotide variant (genic upstream transcript variant)	Early-onset autosomal dominant Alzheimer disease +1 more	GUncertain significance
Select item 313940	NM_000021.3(PSEN1):c.-226C>A	PSEN1	Single nucleotide variant (genic upstream transcript variant)	Early-onset autosomal dominant Alzheimer disease +1 more	GUncertain significance
Select item 313941	NM_000021.3(PSEN1):c.-214T>G	PSEN1	Single nucleotide variant (genic upstream transcript variant)	Dilated Cardiomyopathy, Dominant +1 more	GUncertain significance
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 313942	NM_000021.4(PSEN1):c.-191C>T	PSEN1	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GUncertain significance
Select item 313943	NM_000021.4(PSEN1):c.-180C>T	PSEN1	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1U +1 more	GUncertain significance
Select item 1153577	NM_000021.4(PSEN1):c.-136+213G>A	PSEN1	Single nucleotide variant (intron variant)	not provided +4 more	GLikely benign
Select item 313944	NM_000021.4(PSEN1):c.21G>A (p.Pro7=)	PSEN1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1U +1 more	GUncertain significance
Select item 2644356	NM_000021.4(PSEN1):c.42A>C (p.Ala14=)	PSEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748755	NM_000021.4(PSEN1):c.63C>T (p.His21=)	PSEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 313945	NM_000021.4(PSEN1):c.79C>T (p.Arg27Cys)	PSEN1 (R27C)	Single nucleotide variant (missense variant +1 more)	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)	Alzheimer disease 3 +1 more	GUncertain significance
Select item 2019095	NM_000021.4(PSEN1):c.87+11_87+14dup	PSEN1	Duplication (intron variant)	Alzheimer disease 3 +3 more	GLikely benign
Select item 1251131	NM_000021.4(PSEN1):c.87+252G>A	PSEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 762616	NM_000021.4(PSEN1):c.88-7C>T	PSEN1	Single nucleotide variant (intron variant)	Alzheimer disease 3 +3 more	GLikely benign
Select item 1678084	NM_000021.4(PSEN1):c.88-2A>G	PSEN1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2577038	NM_000021.4(PSEN1):c.95A>G (p.Asn32Ser)	PSEN1 (N28S +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +4 more	GConflicting classifications of pathogenicity
Select item 1256543	NM_000021.4(PSEN1):c.96T>C (p.Asn32=)	PSEN1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 870539	NM_000021.4(PSEN1):c.103C>T (p.Arg35Trp)	PSEN1 (R31W +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia +1 more	GUncertain significance
Select item 98004	NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln)	PSEN1 (R35Q +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +6 more	GConflicting classifications of pathogenicity
Select item 1505666	NM_000021.4(PSEN1):c.118_120del (p.Asp40del)	PSEN1 (D40del +1 more)	Deletion (inframe_deletion)	Alzheimer disease 3 +4 more	GUncertain significance
Select item 1968278	NM_000021.4(PSEN1):c.123A>T (p.Arg41Ser)	PSEN1 (R37S +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 2305774	NM_000021.4(PSEN1):c.124C>G (p.Arg42Gly)	PSEN1 (R38G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 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 1165965	NM_000021.4(PSEN1):c.138C>T (p.His46=)	PSEN1	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +3 more	GBenign
Select item 1582098	NM_000021.4(PSEN1):c.145C>G (p.Pro49Ala)	PSEN1 (P45A +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +4 more	GConflicting classifications of pathogenicity
Select item 1077580	NM_000021.4(PSEN1):c.161G>A (p.Arg54Gln)	PSEN1 (R50Q +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GLikely benign
Select item 2183816	NM_000021.4(PSEN1):c.177C>A (p.Ser59=)	PSEN1	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +3 more	GLikely benign
Select item 1623415	NM_000021.4(PSEN1):c.177C>T (p.Ser59=)	PSEN1	Single nucleotide variant (synonymous variant)	Acne inversa, familial, 3 +3 more	GLikely benign
Select item 1000259	NM_000021.4(PSEN1):c.178C>T (p.Arg60Trp)	PSEN1 (R56W +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 1538139	NM_000021.4(PSEN1):c.213G>A (p.Glu71=)	PSEN1	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +3 more	GLikely benign
Select item 1315928	NM_000021.4(PSEN1):c.221C>T (p.Thr74Ile)	PSEN1 (T70I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3059957	NM_000021.4(PSEN1):c.223T>C (p.Leu75=)	PSEN1	Single nucleotide variant (synonymous variant)	PSEN1-related disorder	GLikely benign
Select item 1979276	NM_000021.4(PSEN1):c.234C>A (p.Gly78=)	PSEN1	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +3 more	GLikely benign
Select item 707810	NM_000021.4(PSEN1):c.234C>T (p.Gly78=)	PSEN1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1U +5 more	GConflicting classifications of pathogenicity
Select item 18157	NM_000021.4(PSEN1):c.236C>T (p.Ala79Val)	PSEN1 (A79V +1 more)	Single nucleotide variant (missense variant)	Acne inversa, familial, 3 +4 more	GPathogenic
Select item 98005	NM_000021.4(PSEN1):c.244G>C (p.Val82Leu)	PSEN1 (V82L +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98006	NM_000021.4(PSEN1):c.247_252del (p.Ile83_Met84del)	PSEN1	Deletion (inframe_deletion)	not provided	Gnot provided
Select item 2925522	NM_000021.4(PSEN1):c.250A>G (p.Met84Val)	PSEN1 (M84V +1 more)	Single nucleotide variant (missense variant)	Acne inversa, familial, 3 +3 more	GPathogenic
Select item 2633056	NM_000021.4(PSEN1):c.252G>T (p.Met84Ile)	PSEN1 (M80I +1 more)	Single nucleotide variant (missense variant)	PSEN1-related disorder	GUncertain significance
Select item 1997508	NM_000021.4(PSEN1):c.252G>C (p.Met84Ile)	PSEN1 (M84I +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GLikely pathogenic
Select item 18153	NM_000021.4(PSEN1):c.254T>C (p.Leu85Pro)	PSEN1 (L85P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2924422	NM_000021.4(PSEN1):c.255C>A (p.Leu85=)	PSEN1	Single nucleotide variant (synonymous variant)	Acne inversa, familial, 3 +3 more	GLikely benign
Select item 2644357	NM_000021.4(PSEN1):c.255C>G (p.Leu85=)	PSEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2951218	NM_000021.4(PSEN1):c.256T>C (p.Phe86Leu)	PSEN1 (F82L +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 692235	NM_000021.4(PSEN1):c.257T>G (p.Phe86Cys)	PSEN1 (F82C +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3	GLikely pathogenic
Select item 938776	NM_000021.4(PSEN1):c.262C>A (p.Pro88Thr)	PSEN1 (P84T +1 more)	Single nucleotide variant (missense variant)	Pick disease +3 more	GUncertain significance
Select item 982376	NM_000021.4(PSEN1):c.263C>G (p.Pro88Arg)	PSEN1 (P84R +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia	GPathogenic
Select item 872049	NM_000021.4(PSEN1):c.263C>T (p.Pro88Leu)	PSEN1 (P84L +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1140026	NM_000021.4(PSEN1):c.264T>C (p.Pro88=)	PSEN1	Single nucleotide variant (synonymous variant)	Pick disease +3 more	GLikely benign
Select item 21027	NM_000021.4(PSEN1):c.265G>T (p.Val89Leu)	PSEN1 (V89L +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +1 more	Gnot provided
Select item 841495	NM_000021.4(PSEN1):c.269C>G (p.Thr90Ser)	PSEN1 (T90S +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 2028849	NM_000021.4(PSEN1):c.274T>A (p.Cys92Ser)	PSEN1 (C88S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 18142	NM_000021.4(PSEN1):c.275G>C (p.Cys92Ser)	PSEN1 (C92S +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3	GPathogenic
Select item 98008	NM_000021.4(PSEN1):c.280G>A (p.Val94Met)	PSEN1 (V94M +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 98009	NM_000021.4(PSEN1):c.286G>T (p.Val96Phe)	PSEN1 (V96F +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98010	NM_000021.4(PSEN1):c.289G>T (p.Val97Leu)	PSEN1 (V97L +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 1027511	NM_000021.4(PSEN1):c.300dup (p.Lys101Ter)	PSEN1 (K101* +1 more)	Duplication (nonsense)	Alzheimer disease 3	GPathogenic
Select item 2017451	NM_000021.4(PSEN1):c.308_310del (p.Val103_Ser104delinsGly)	PSEN1	Deletion (inframe_indel)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 1805408	NM_000021.4(PSEN1):c.308T>A (p.Val103Asp)	PSEN1 (V103D +1 more)	Single nucleotide variant (missense variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely pathogenic
Select item 957406	NM_000021.4(PSEN1):c.308T>G (p.Val103Gly)	PSEN1 (V99G +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GLikely pathogenic
Select item 98011	NM_000021.4(PSEN1):c.313T>A (p.Phe105Ile)	PSEN1 (F105I +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 374134	NM_000021.4(PSEN1):c.314T>G (p.Phe105Cys)	PSEN1 (F105C +1 more)	Single nucleotide variant (missense variant)	Mental deterioration +1 more	GPathogenic
Select item 98012	NM_000021.4(PSEN1):c.315T>G (p.Phe105Leu)	PSEN1 (F105L +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 586383	NM_000021.4(PSEN1):c.321C>G (p.Thr107=)	PSEN1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 191767	NM_000021.4(PSEN1):c.322C>T (p.Arg108Trp)	PSEN1 (R108W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2924220	NM_000021.4(PSEN1):c.323G>A (p.Arg108Gln)	PSEN1 (R104Q +1 more)	Single nucleotide variant (missense variant)	Acne inversa, familial, 3 +3 more	GUncertain significance
Select item 313946	NM_000021.4(PSEN1):c.337C>T (p.Leu113=)	PSEN1	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +4 more	GUncertain significance
Select item 18145	NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro)	PSEN1 (L113P +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GLikely pathogenic
Select item 98013	NM_000021.4(PSEN1):c.338+1del	PSEN1	Deletion (splice donor variant)	not provided	GPathogenic
Select item 1026266	NM_000021.4(PSEN1):c.338+7A>G	PSEN1	Single nucleotide variant (intron variant)	Frontotemporal dementia +3 more	GLikely pathogenic
Select item 3069028	NM_000021.4(PSEN1):c.338+22T>C	PSEN1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1295802	NM_000021.4(PSEN1):c.338+206T>C	PSEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202413	NM_000021.4(PSEN1):c.339-245A>G	PSEN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 967025	NM_000021.4(PSEN1):c.339A>G (p.Leu113=)	PSEN1	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +3 more	GLikely benign
Select item 98014	NM_000021.4(PSEN1):c.343T>G (p.Tyr115Asp)	PSEN1 (Y115D +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98015	NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys)	PSEN1 (Y115C +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +4 more	GPathogenic/Likely pathogenic
Select item 659639	NM_000021.4(PSEN1):c.347C>A (p.Thr116Asn)	PSEN1 (T112N +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GPathogenic
Select item 98016	NM_000021.4(PSEN1):c.347C>T (p.Thr116Ile)	PSEN1 (T116I +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GPathogenic
Select item 98017	NM_000021.4(PSEN1):c.349C>T (p.Pro117Ser)	PSEN1 (P117S +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GPathogenic
Select item 98018	NM_000021.4(PSEN1):c.350C>T (p.Pro117Leu)	PSEN1 (P117L +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3	GLikely pathogenic
Select item 2094397	NM_000021.4(PSEN1):c.352T>G (p.Phe118Val)	PSEN1 (F114V +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
Select item 625849	NM_000021.4(PSEN1):c.356C>T (p.Thr119Ile)	PSEN1 (T119I +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +1 more	GLikely pathogenic
Select item 98019	NM_000021.4(PSEN1):c.358G>A (p.Glu120Lys)	PSEN1 (E120K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 18135	NM_000021.4(PSEN1):c.360A>T (p.Glu120Asp)	PSEN1 (E120D +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3	GPathogenic
Select item 599626	NM_000021.4(PSEN1):c.364A>G (p.Thr122Ala)	PSEN1 (T122A +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia	GLikely pathogenic
Select item 703859	NM_000021.4(PSEN1):c.366C>T (p.Thr122=)	PSEN1	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +3 more	GLikely benign
Select item 1446843	NM_000021.4(PSEN1):c.367G>C (p.Glu123Gln)	PSEN1 (E119Q +1 more)	Single nucleotide variant (missense variant)	Pick disease +4 more	GUncertain significance
Select item 98020	NM_000021.4(PSEN1):c.367G>A (p.Glu123Lys)	PSEN1 (E123K +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 1428967	NM_000021.4(PSEN1):c.370A>G (p.Thr124Ala)	PSEN1 (T120A +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GUncertain significance
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 586384	NM_000021.4(PSEN1):c.389T>C (p.Leu130Pro)	PSEN1 (L130P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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