"Illumina Laboratory Services, Illumina"[submitter] AND "ARMS2"[gene] - ClinVar

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Items: 31

	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 condition +1 more	GBenign/Likely benign
Select item 979	NM_001099667.3(ARMS2):c.205G>T (p.Ala69Ser)	ARMS2 (A69S)	Single nucleotide variant (missense variant)	ARMS2-related condition +2 more	GBenign
Select item 299030	NM_001099667.3(ARMS2):c.298-14_298-13insG	ARMS2, HTRA1	Insertion (intron variant)	Macular degeneration	GLikely benign
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 299033	NM_001099667.3(ARMS2):c.298-4del	HTRA1, ARMS2	Deletion (intron variant)	Macular degeneration	GLikely benign
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 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
Select item 299042	NM_002775.5(HTRA1):c.-57C>A	ARMS2, HTRA1	Single nucleotide variant (5 prime UTR variant)	Macular degeneration	GLikely benign
Select item 299044	NM_002775.5(HTRA1):c.59C>T (p.Ala20Val)	ARMS2, HTRA1 (A20V)	Single nucleotide variant (missense variant)	CARASIL syndrome +2 more	GBenign/Likely benign
Select item 299045	NM_002775.5(HTRA1):c.77G>A (p.Arg26Gln)	ARMS2, HTRA1 (R26Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 21324	NM_002775.5(HTRA1):c.102C>T (p.Ala34=)	ARMS2, HTRA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 21326	NM_002775.5(HTRA1):c.108G>T (p.Gly36=)	HTRA1, ARMS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 21325	NM_002775.5(HTRA1):c.108G>C (p.Gly36=)	ARMS2, HTRA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic

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Items: 31