ClinVar for MedGen (Select 924255) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370328	NM_019112.4(ABCA7):c.3547C>T (p.Gln1183Ter)	ABCA7 (Q1183*)	Single nucleotide variant (nonsense)	Alzheimer disease 9	GLikely pathogenic
Select item 3068114	NM_019112.4(ABCA7):c.3423+1G>T	ABCA7	Single nucleotide variant (splice donor variant)	Alzheimer disease 9	GLikely pathogenic
Select item 2585166	NM_019112.4(ABCA7):c.4358G>A (p.Arg1453His)	ABCA7 (R1453H)	Single nucleotide variant (missense variant)	Alzheimer disease 9	GUncertain significance
Select item 2585154	NM_019112.4(ABCA7):c.1364C>T (p.Pro455Leu)	ABCA7 (P455L)	Single nucleotide variant (missense variant)	Alzheimer disease 9	GUncertain significance
Select item 2585151	NM_019112.4(ABCA7):c.5548G>A (p.Glu1850Lys)	ABCA7 (E1850K)	Single nucleotide variant (missense variant)	Alzheimer disease 9	GUncertain significance
Select item 2585149	NM_019112.4(ABCA7):c.6224C>A (p.Ala2075Glu)	ABCA7, LOC130062871 (A2075E)	Single nucleotide variant (missense variant)	Alzheimer disease 9	GUncertain significance
Select item 2585148	NM_019112.4(ABCA7):c.2974A>G (p.Ile992Val)	ABCA7 (I992V)	Single nucleotide variant (missense variant)	Alzheimer disease 9	GUncertain significance
Select item 1710233	NM_019112.4(ABCA7):c.5182dup (p.Glu1728fs)	ABCA7 (E1728fs)	Duplication (frameshift variant)	Alzheimer disease 9	GUncertain significance
Select item 1683702	NM_019112.4(ABCA7):c.3397G>A (p.Gly1133Arg)	ABCA7 (G1133R)	Single nucleotide variant (missense variant)	Alzheimer disease 9	GUncertain significance
Select item 1339045	NM_019112.4(ABCA7):c.161-2A>T	ABCA7	Single nucleotide variant (splice acceptor variant)	Alzheimer disease 9	GUncertain significance
Select item 1334015	NM_019112.4(ABCA7):c.6377_6383dup (p.Pro2129fs)	ABCA7 (P2129fs)	Duplication (frameshift variant)	Alzheimer disease 9	GUncertain significance
Select item 1334014	NM_019112.4(ABCA7):c.5926C>A (p.Arg1976Ser)	ABCA7 (R1976S)	Single nucleotide variant (missense variant)	Alzheimer disease 9	GUncertain significance
Select item 1334013	NM_019112.4(ABCA7):c.2638C>T (p.Arg880Trp)	ABCA7 (R880W)	Single nucleotide variant (missense variant)	Alzheimer disease 9 +1 more	GUncertain significance
Select item 1178349	NM_003105.6(SORL1):c.1432G>C (p.Ala478Pro)	SORL1 (A478P)	Single nucleotide variant (missense variant)	Alzheimer disease 9	Grisk factor
Select item 1178348	NM_019112.4(ABCA7):c.3782del (p.Pro1261fs)	ABCA7 (P1261fs)	Deletion (frameshift variant)	Alzheimer disease 9	Grisk factor
Select item 1178347	NM_019112.4(ABCA7):c.1776G>T (p.Trp592Cys)	ABCA7 (W592C)	Single nucleotide variant (missense variant)	Alzheimer disease 9	Grisk factor
Select item 930747	NM_019112.4(ABCA7):c.6253G>A (p.Asp2085Asn)	ABCA7 (D2085N)	Single nucleotide variant (missense variant)	Alzheimer disease 9	GUncertain significance
Select item 930746	NM_019112.4(ABCA7):c.4561A>C (p.Lys1521Gln)	ABCA7 (K1521Q)	Single nucleotide variant (missense variant)	Alzheimer disease 9	GUncertain significance
Select item 715541	NM_019112.4(ABCA7):c.1061T>C (p.Met354Thr)	ABCA7 (M354T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 715316	NM_019112.4(ABCA7):c.4886C>T (p.Ser1629Leu)	ABCA7 (S1629L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 546823	NM_019112.4(ABCA7):c.5570+5G>C	ABCA7	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 225545	NM_019112.4(ABCA7):c.3641G>A (p.Trp1214Ter)	ABCA7 (W1214*)	Single nucleotide variant (nonsense)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 225544	NM_019112.3(ABCA7):c.2126_2132del (p.Glu709fs)	ABCA7 (E709fs)	Deletion (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity; risk factor

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Items: 23