ClinVar for MedGen (Select 414044) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2628367	NM_000484.4(APP):c.2061A>C (p.Lys687Asn)	APP (K556N +9 more)	Single nucleotide variant (missense variant)	Cerebral amyloid angiopathy, APP-related +1 more	GLikely pathogenic
Select item 1643179	NM_000484.4(APP):c.1458+18C>T	APP	Single nucleotide variant (intron variant)	Alzheimer disease type 1 +2 more	GBenign/Likely benign
Select item 1522518	NM_000484.4(APP):c.1450C>T (p.Pro484Ser)	APP (P484S +6 more)	Single nucleotide variant (missense variant)	Alzheimer disease +2 more	GConflicting classifications of pathogenicity
Select item 1299705	NM_000484.4(APP):c.1409G>A (p.Arg470His)	APP (R339H +6 more)	Single nucleotide variant (missense variant)	Cerebral amyloid angiopathy, APP-related	GUncertain significance
Select item 898004	NM_000484.4(APP):c.704C>T (p.Ala235Val)	APP (A200V +3 more)	Single nucleotide variant (missense variant)	Cerebral amyloid angiopathy, APP-related +1 more	GConflicting classifications of pathogenicity
Select item 894989	NM_000484.4(APP):c.47G>A (p.Arg16Gln)	APP (R16Q)	Single nucleotide variant (missense variant +1 more)	Cerebral amyloid angiopathy, APP-related +2 more	GUncertain significance
Select item 851473	NM_000484.4(APP):c.1037C>A (p.Ser346Tyr)	APP (S290Y +1 more)	Single nucleotide variant (intron variant +1 more)	Alzheimer disease type 1 +2 more	GUncertain significance
Select item 705044	NM_000484.4(APP):c.2148C>T (p.Ile716=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease +5 more	GLikely benign
Select item 638317	NM_000484.4(APP):c.2125G>A (p.Gly709Ser)	APP (G709S +9 more)	Single nucleotide variant (missense variant)	Hereditary cerebral hemorrhage with amyloidosis +2 more	GConflicting classifications of pathogenicity
Select item 339658	NM_000484.3(APP):c.-199G>A	APP	Single nucleotide variant (intron variant)	Cerebral amyloid angiopathy, APP-related +1 more	GUncertain significance
Select item 339656	NM_000484.3(APP):c.-170C>A	APP	Single nucleotide variant (genic upstream transcript variant +1 more)	Early-onset autosomal dominant Alzheimer disease +2 more	GUncertain significance
Select item 339642	NM_000484.4(APP):c.674T>C (p.Val225Ala)	APP (V225A +3 more)	Single nucleotide variant (missense variant)	Cerebral amyloid angiopathy, APP-related +2 more	GUncertain significance
Select item 339631	NM_000484.4(APP):c.1840A>G (p.Ser614Gly)	APP (S614G +6 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 339629	NM_000484.4(APP):c.2124C>T (p.Gly708=)	APP	Single nucleotide variant (synonymous variant)	Alzheimer disease +3 more	GBenign/Likely benign
Select item 127268	NC_000021.7:g.13636378_28138533dup	CYYR1, GABPA +23 more	Duplication	Alzheimer disease +1 more	GPathogenic
Select item 18103	NM_000484.4(APP):c.2113C>G (p.Leu705Val)	APP (L705V +9 more)	Single nucleotide variant (missense variant)	Cerebral amyloid angiopathy, APP-related	GLikely pathogenic
Select item 18094	NM_000484.4(APP):c.2137G>A (p.Ala713Thr)	APP (A713T +9 more)	Single nucleotide variant (missense variant)	Primary degenerative dementia of the Alzheimer type, presenile onset +2 more	GLikely pathogenic
Select item 18088	NM_000484.4(APP):c.2149G>A (p.Val717Ile)	APP (V717I +9 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 18087	NM_000484.4(APP):c.2077G>C (p.Glu693Gln)	APP (E693Q +9 more)	Single nucleotide variant (missense variant)	Cerebral amyloid angiopathy, APP-related +1 more	GPathogenic