ClinVar for MedGen (Select 354892) - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065755	NM_000603.5(NOS3):c.1951G>A (p.Gly651Arg)	NOS3 (G651R)	Single nucleotide variant (missense variant)	Alzheimer disease type 1	GUncertain significance
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 2585160	NM_000603.5(NOS3):c.2356G>A (p.Gly786Arg)	NOS3 (G786R)	Single nucleotide variant (missense variant)	Alzheimer disease type 1	GUncertain significance
Select item 2578028	NM_000484.4(APP):c.1300-11T>G	APP	Single nucleotide variant (intron variant)	Alzheimer disease type 1	GUncertain significance
Select item 1685344	NM_000410.4(HFE):c.76+2T>C	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Alzheimer disease type 1 +1 more	GLikely pathogenic
Select item 1643179	NM_000484.4(APP):c.1458+18C>T	APP	Single nucleotide variant (intron variant)	Alzheimer disease +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 1342870	NM_000484.4(APP):c.2155A>C (p.Thr719Pro)	APP (T588P +9 more)	Single nucleotide variant (missense variant)	Alzheimer disease type 1	GLikely pathogenic
Select item 1324732	NM_000250.2(MPO):c.249-2A>G	LOC106694315, MPO	Single nucleotide variant (splice acceptor variant)	Myeloperoxidase deficiency +1 more	GLikely pathogenic
Select item 1065637	NM_000410.4(HFE):c.1006+1G>A	HFE	Single nucleotide variant (splice donor variant)	Alzheimer disease type 1 +7 more	GPathogenic/Likely pathogenic
Select item 906791	NM_000410.4(HFE):c.*603C>T	HFE	Single nucleotide variant (3 prime UTR variant)	Microvascular complications of diabetes, susceptibility to, 7 +6 more	GUncertain significance
Select item 904398	NM_000410.4(HFE):c.*198C>T	HFE	Single nucleotide variant (3 prime UTR variant)	Variegate porphyria +5 more	GUncertain significance
Select item 894989	NM_000484.4(APP):c.47G>A (p.Arg16Gln)	APP (R16Q)	Single nucleotide variant (missense variant +1 more)	Alzheimer disease +2 more	GUncertain significance
Select item 851473	NM_000484.4(APP):c.1037C>A (p.Ser346Tyr)	APP (S290Y +1 more)	Single nucleotide variant (missense variant +1 more)	Alzheimer disease +2 more	GUncertain significance
Select item 777205	NM_000250.2(MPO):c.2187C>T (p.Asn729=)	MPO	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 761693	NM_000603.5(NOS3):c.465C>G (p.Ala155=)	NOS3	Single nucleotide variant (synonymous variant)	Ischemic stroke +4 more	GBenign/Likely benign
Select item 705044	NM_000484.4(APP):c.2148C>T (p.Ile716=)	APP	Single nucleotide variant (synonymous variant)	APP-related disorder +6 more	GLikely benign
Select item 632481	NM_000410.4(HFE):c.676C>T (p.Arg226Trp)	HFE (R226W +8 more)	Single nucleotide variant (missense variant +1 more)	Hemochromatosis type 1 +5 more	GUncertain significance
Select item 496809	NM_000603.4(NOS3):c.[774T>C;894T>G]	NOS3 (D298E)	Single nucleotide variant (missense variant +1 more)	Metabolic syndrome, susceptibility to	Grisk factor
Select item 489145	NM_000250.2(MPO):c.604G>T (p.Glu202Ter)	MPO (E202*)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 461194	NM_000410.4(HFE):c.766G>A (p.Val256Ile)	HFE (V256I +8 more)	Single nucleotide variant (missense variant +1 more)	Familial porphyria cutanea tarda +6 more	GUncertain significance
Select item 407079	NM_000410.4(HFE):c.546_547del (p.Leu183fs)	HFE (L183fs +2 more)	Deletion (frameshift variant +1 more)	Familial porphyria cutanea tarda +6 more	GPathogenic/Likely pathogenic
Select item 339656	NM_000484.3(APP):c.-170C>A	APP	Single nucleotide variant (genic upstream transcript variant +1 more)	Alzheimer disease type 1 +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)	Alzheimer disease type 1 +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)	Alzheimer disease type 1 +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 type 1 +3 more	GBenign/Likely benign
Select item 222651	NM_000410.4(HFE):c.502G>C (p.Glu168Gln)	HFE (E168Q +2 more)	Single nucleotide variant (missense variant +1 more)	Hemochromatosis type 1 +7 more	GUncertain significance
Select item 216425	NM_000410.4(HFE):c.18G>C (p.Arg6Ser)	HFE, HFE-AS1 (R6S)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemochromatosis +7 more	GUncertain significance
Select item 18105	NM_000484.4(APP):c.2149G>C (p.Val717Leu)	APP (V717L +9 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 18102	NM_000484.4(APP):c.2140A>G (p.Thr714Ala)	APP (T714A +9 more)	Single nucleotide variant (missense variant)	Alzheimer disease type 1 +1 more	GPathogenic
Select item 18100	NM_000484.4(APP):c.2141C>T (p.Thr714Ile)	APP (T714I +9 more)	Single nucleotide variant (missense variant)	Alzheimer disease type 1	GPathogenic
Select item 18098	NM_000484.4(APP):c.2078A>G (p.Glu693Gly)	APP (E693G +9 more)	Single nucleotide variant (missense variant)	ABeta amyloidosis, Arctic type +1 more	GPathogenic
Select item 18097	NM_000484.4(APP):c.2143G>A (p.Val715Met)	APP (V715M +9 more)	Single nucleotide variant (missense variant)	Alzheimer disease type 1 +2 more	GPathogenic/Likely pathogenic
Select item 18096	NM_000484.4(APP):c.2146A>G (p.Ile716Val)	APP (I716V +9 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 18095	NM_000484.4(APP):c.1995G>C (p.Glu665Asp)	APP (E665D +9 more)	Single nucleotide variant (missense variant)	Alzheimer disease +1 more	GUncertain significance
Select item 18094	NM_000484.4(APP):c.2137G>A (p.Ala713Thr)	APP (A713T +9 more)	Single nucleotide variant (missense variant)	Cerebral amyloid angiopathy, APP-related +2 more	GLikely pathogenic
Select item 18093	NM_000484.4(APP):c.2010_2011inv (p.Lys670_Met671delinsAsnLeu)	APP	Inversion (missense variant)	APP-related disorder +1 more	GPathogenic
Select item 18091	NM_000484.4(APP):c.2075C>G (p.Ala692Gly)	APP (A692G +9 more)	Single nucleotide variant (missense variant)	ABetaA21G amyloidosis +1 more	GPathogenic
Select item 18090	NM_000484.4(APP):c.2150T>G (p.Val717Gly)	APP (V717G +9 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 18089	NM_000484.4(APP):c.2149G>T (p.Val717Phe)	APP (V717F +9 more)	Single nucleotide variant (missense variant)	Alzheimer disease type 1 +2 more	GPathogenic
Select item 18088	NM_000484.4(APP):c.2149G>A (p.Val717Ile)	APP (V717I +9 more)	Single nucleotide variant (missense variant)	Alzheimer disease type 1 +3 more	GPathogenic
Select item 14015	NM_000603.5(NOS3):c.894T>G (p.Asp298Glu)	NOS3 (D298E)	Single nucleotide variant (missense variant)	Preeclampsia/eclampsia 1 +5 more	GBenign
Select item 3632	NM_000250.2(MPO):c.2031-2A>C	MPO	Single nucleotide variant (splice acceptor variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 3626	NM_000250.2(MPO):c.1705C>T (p.Arg569Trp)	LOC106694316, MPO (R569W)	Single nucleotide variant (missense variant)	Alzheimer disease type 1 +3 more	GPathogenic/Likely pathogenic
Select item 11	NM_000410.4(HFE):c.193A>T (p.Ser65Cys)	HFE, HFE-AS1 (S65C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 9	NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	HFE (C282Y +8 more)	Single nucleotide variant (missense variant +1 more)	Abnormality of the male genitalia +19 more	GPathogenic/Pathogenic, low penetrance; other; risk factor

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Links from MedGen

Items: 46