ARMS2[gene] - ClinVar

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Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 57088	GRCh38/hg38 10q26.11-26.13(chr10:119273012-123117390)x3	FGFR2, GRK5 +119 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	LOC130004881, LOC130004882 +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130005014, LOC130005015 +409 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC130004911, LOC130004912 +395 more	Copy number loss	See cases	GPathogenic
Select item 150986	GRCh38/hg38 10q26.13(chr10:122143176-124358013)x1	ACADSB, ARMS2 +81 more	Copy number loss	See cases	GPathogenic
Select item 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic
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 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 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
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)	Macular degeneration +1 more	GBenign/Likely benign
Select item 21324	NM_002775.5(HTRA1):c.102C>T (p.Ala34=)	ARMS2, HTRA1	Single nucleotide variant (synonymous variant)	Macular degeneration +2 more	GBenign/Likely benign
Select item 21326	NM_002775.5(HTRA1):c.108G>T (p.Gly36=)	ARMS2, HTRA1	Single nucleotide variant (synonymous variant)	Macular degeneration +2 more	GBenign/Likely benign
Select item 21325	NM_002775.5(HTRA1):c.108G>C (p.Gly36=)	ARMS2, HTRA1	Single nucleotide variant (synonymous variant)	Macular degeneration +2 more	GBenign/Likely benign
Select item 1801372	NM_002775.5(HTRA1):c.175_178del (p.Arg59fs)	ARMS2, HTRA1 (R59fs)	Deletion (frameshift variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	GPathogenic
Select item 3148924	GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574693	GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)	ABRAXAS2, ACADSB +77 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 2424540	NC_000010.10:g.(?_124214244)_(124273875_?)dup	ARMS2, HTRA1	Duplication	not provided	GUncertain significance
Select item 2422456	NC_000010.10:g.(?_123239371)_(124813281_?)del	BTBD16, FAM24A +15 more	Deletion	FGFR2-related craniosynostosis	GUncertain significance
Select item 1808950	GRCh37/hg19 10q26.13(chr10:123964214-124477580)x3	ARMS2, BTBD16 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1527609	GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)	FAM24A, FAM24B +80 more	Copy number loss	not specified	GPathogenic
Select item 1527608	GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)	ABRAXAS2, ACADSB +68 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527606	GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066)	ACADSB, ARMS2 +54 more	Copy number loss	not specified	GPathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 1172570	GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1	FANK1, FGFR2 +79 more	Copy number loss	See cases	GPathogenic
Select item 1077193	Single allele	BTBD16, C10orf120 +36 more	Deletion	not provided	GLikely pathogenic
Select item 815380	GRCh37/hg19 10q26.13(chr10:123232922-124638514)x3	HTRA1, ARMS2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 815379	GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3	FGFR2, FOXI2 +95 more	Copy number gain	not provided	GPathogenic
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 625556	GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806)	ACADSB, ARMS2 +54 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 563799	GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3	ABRAXAS2, ACADSB +86 more	Copy number gain	not provided	GPathogenic
Select item 563798	GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1	ABRAXAS2, ACADSB +79 more	Copy number loss	not provided	GPathogenic
Select item 563797	GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1	ABRAXAS2, ACADSB +78 more	Copy number loss	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 395627	GRCh37/hg19 10q26.13-26.3(chr10:124147428-135370736)x1	ABRAXAS2, ACADSB +73 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic
Select item 253439	GRCh37/hg19 10q26.12-26.2(chr10:122239239-128203032)x1	C10orf90, CHST15 +40 more	Copy number loss	See cases	GPathogenic
Select item 219035	GRCh37/hg19 10q26.13-26.3(chr10:123731209-135353867)x1	ACADSB, ADAM12 +75 more	Copy number loss	See cases	GPathogenic

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Items: 89