ARMS2[gene] and "single gene"[properties] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 299027	NM_001099667.3(ARMS2):c.-60G>T	ARMS2	Single nucleotide variant (5 prime UTR variant)	Age related macular degeneration 8	GUncertain significance
Select item 878184	NM_001099667.3(ARMS2):c.-9G>A	ARMS2	Single nucleotide variant (5 prime UTR variant)	Age related macular degeneration 8	GLikely benign
Select item 299028	NM_001099667.3(ARMS2):c.8G>A (p.Arg3His)	ARMS2 (R3H)	Single nucleotide variant (missense variant)	Age related macular degeneration 8	GBenign
Select item 878185	NM_001099667.3(ARMS2):c.23C>T (p.Pro8Leu)	ARMS2 (P8L)	Single nucleotide variant (missense variant)	Age related macular degeneration 8	GUncertain significance
Select item 878186	NM_001099667.3(ARMS2):c.39G>A (p.Ala13=)	ARMS2	Single nucleotide variant (synonymous variant)	Age related macular degeneration 8	GUncertain significance
Select item 299029	NM_001099667.3(ARMS2):c.112C>T (p.Arg38Ter)	ARMS2 (R38*)	Single nucleotide variant (nonsense)	ARMS2-related disorder +1 more	GBenign/Likely benign
Select item 2493062	NM_001099667.3(ARMS2):c.170G>A (p.Ser57Asn)	ARMS2 (S57N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129722	NM_001099667.3(ARMS2):c.193A>G (p.Met65Val)	ARMS2 (M65V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 979	NM_001099667.3(ARMS2):c.205G>T (p.Ala69Ser)	ARMS2 (A69S)	Single nucleotide variant (missense variant)	ARMS2-related disorder +2 more	GBenign
Select item 2517498	NM_001099667.3(ARMS2):c.232C>G (p.Pro78Ala)	ARMS2 (P78A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723528	NM_001099667.3(ARMS2):c.246_247del (p.Pro83fs)	ARMS2 (P83fs)	Microsatellite (frameshift variant)	not provided	GLikely benign
Select item 162171	NM_001099667.3(ARMS2):c.297+881C>T	ARMS2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 299032	NM_001099667.3(ARMS2):c.298-13A>T	ARMS2	Single nucleotide variant (intron variant)	Age related macular degeneration 8 +1 more	GBenign/Likely benign
Select item 299031	NM_001099667.3(ARMS2):c.298-13A>G	ARMS2	Single nucleotide variant (intron variant)	Age related macular degeneration 8 +1 more	GBenign/Likely benign
Select item 2243245	NM_001099667.3(ARMS2):c.304A>T (p.Ile102Phe)	ARMS2 (I102F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 299034	NM_001099667.3(ARMS2):c.*15A>G	ARMS2	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 8	GUncertain significance
Select item 879637	NM_001099667.3(ARMS2):c.*45T>G	ARMS2	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 8	GLikely benign
Select item 879638	NM_001099667.3(ARMS2):c.*107T>G	ARMS2	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 8	GLikely benign
Select item 299035	NM_001099667.3(ARMS2):c.*161C>T	ARMS2	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 8	GLikely benign
Select item 299036	NM_001099667.3(ARMS2):c.*204C>A	ARMS2	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 8	GLikely benign
Select item 299037	NM_001099667.3(ARMS2):c.*251T>C	ARMS2	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 8	GUncertain significance
Select item 880000	NM_001099667.3(ARMS2):c.*313G>C	ARMS2	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 8	GUncertain significance
Select item 980	NC_000010.11:g.122457305_122457748delinsTTATTAATTAATTAACTAAAATTAAATTATTTAGTTAATTTAATTAACTAAACT	ARMS2	Indel	Age related macular degeneration 8	Grisk factor
Select item 299038	NM_001099667.3(ARMS2):c.*373T>G	ARMS2	Single nucleotide variant (3 prime UTR variant)	Macular degeneration +1 more	GBenign/Likely benign
Select item 880001	NM_001099667.3(ARMS2):c.*374G>T	ARMS2	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 8	GBenign
Select item 299040	NM_001099667.3(ARMS2):c.*377dup	ARMS2	Duplication (3 prime UTR variant)	Macular degeneration	GUncertain significance
Select item 299039	NM_001099667.3(ARMS2):c.*376T>C	ARMS2	Single nucleotide variant (3 prime UTR variant)	Macular degeneration +1 more	GBenign/Likely benign
Select item 299041	NM_001099667.3(ARMS2):c.*385A>C	ARMS2	Single nucleotide variant (3 prime UTR variant)	Macular degeneration +1 more	GBenign/Likely benign
Select item 880002	NM_001099667.3(ARMS2):c.*399A>G	ARMS2	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 8	GUncertain significance

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Items: 29