5654[geneid] - ClinVar - NCBI

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	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 299030	NM_001099667.3(ARMS2):c.298-14_298-13insG	ARMS2, HTRA1	Insertion (intron variant)	Macular degeneration	GLikely benign
Select item 299033	NM_001099667.3(ARMS2):c.298-4del	HTRA1, ARMS2	Deletion (intron variant)	Macular degeneration	GLikely benign
Select item 1298498	NC_000010.11:g.122458640del	HTRA1	Deletion	not provided	GUncertain significance
Select item 7486	NM_002775.4(HTRA1):c.-625G>A	HTRA1	Single nucleotide variant	Age related macular degeneration 7 +1 more	Grisk factor
Select item 299042	NM_002775.5(HTRA1):c.-57C>A	ARMS2, HTRA1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 2684150	NM_002775.5(HTRA1):c.8T>A (p.Ile3Asn)	HTRA1 (I3N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2778548	NM_002775.5(HTRA1):c.9C>A (p.Ile3=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 877205	NM_002775.5(HTRA1):c.10C>T (p.Pro4Ser)	HTRA1 (P4S)	Single nucleotide variant (missense variant)	Macular degeneration	GUncertain significance
Select item 877206	NM_002775.5(HTRA1):c.12G>T (p.Pro4=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1532670	NM_002775.5(HTRA1):c.15C>G (p.Arg5=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2486503	NM_002775.5(HTRA1):c.20C>G (p.Ala7Gly)	HTRA1 (A7G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3046807	NM_002775.5(HTRA1):c.27C>G (p.Leu9=)	HTRA1	Single nucleotide variant (synonymous variant)	HTRA1-related disorder	GLikely benign
Select item 804656	NM_002775.5(HTRA1):c.31CTG[7] (p.Leu16dup)	HTRA1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 299043	NM_002775.5(HTRA1):c.33_34insTCC (p.Leu11_Leu12insSer)	HTRA1	Insertion (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2799614	NM_002775.5(HTRA1):c.34delinsTCCT (p.Leu11_Leu12insSer)	HTRA1	Indel (inframe_insertion)	not provided	GUncertain significance
Select item 871446	NM_002775.5(HTRA1):c.34C>T (p.Leu12=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 299044	NM_002775.5(HTRA1):c.59C>T (p.Ala20Val)	ARMS2, HTRA1 (A20V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 3107608	NM_002775.5(HTRA1):c.62C>T (p.Ser21Leu)	HTRA1 (S21L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2766970	NM_002775.5(HTRA1):c.70C>T (p.Leu24=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984892	NM_002775.5(HTRA1):c.73T>C (p.Ser25Pro)	HTRA1 (S25P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578176	NM_002775.5(HTRA1):c.74C>T (p.Ser25Phe)	HTRA1 (S25F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3107609	NM_002775.5(HTRA1):c.76C>T (p.Arg26Trp)	HTRA1 (R26W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2640904	NM_002775.5(HTRA1):c.84C>A (p.Gly28=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814554	NM_002775.5(HTRA1):c.92C>A (p.Ala31Glu)	HTRA1 (A31E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701151	NM_002775.5(HTRA1):c.92C>T (p.Ala31Val)	HTRA1 (A31V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 727934	NM_002775.5(HTRA1):c.96T>G (p.Pro32=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely 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)	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 2640905	NM_002775.5(HTRA1):c.112C>G (p.Pro38Ala)	HTRA1 (P38A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3107606	NM_002775.5(HTRA1):c.118C>G (p.Arg40Gly)	HTRA1 (R40G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1516486	NM_002775.5(HTRA1):c.124G>A (p.Glu42Lys)	HTRA1 (E42K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1694572	NM_002775.5(HTRA1):c.126G>A (p.Glu42=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 180747	NM_002775.5(HTRA1):c.126del (p.Glu42fs)	HTRA1 (E42fs)	Deletion (frameshift variant)	CARASIL syndrome	GPathogenic
Select item 1517131	NM_002775.5(HTRA1):c.127C>T (p.Pro43Ser)	HTRA1 (P43S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 878248	NM_002775.5(HTRA1):c.133C>T (p.Arg45Cys)	HTRA1 (R45C)	Single nucleotide variant (missense variant)	Macular degeneration	GUncertain significance
Select item 976057	NM_002775.5(HTRA1):c.138C>A (p.Cys46Ter)	HTRA1 (C46*)	Single nucleotide variant (nonsense)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	GUncertain significance
Select item 798282	NM_002775.5(HTRA1):c.144G>T (p.Pro48=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2056872	NM_002775.5(HTRA1):c.148C>G (p.Pro50Ala)	HTRA1 (P50A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989302	NM_002775.5(HTRA1):c.150G>A (p.Pro50=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1490427	NM_002775.5(HTRA1):c.152A>G (p.Glu51Gly)	HTRA1 (E51G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901600	NM_002775.5(HTRA1):c.161A>C (p.Glu54Ala)	HTRA1 (E54A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256106	NM_002775.5(HTRA1):c.165C>A (p.Gly55=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely 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 878249	NM_002775.5(HTRA1):c.176G>C (p.Arg59Pro)	HTRA1 (R59P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 740229	NM_002775.5(HTRA1):c.180C>T (p.Asp60=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1959435	NM_002775.5(HTRA1):c.184_185del (p.Cys62fs)	HTRA1 (C62fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1956229	NM_002775.5(HTRA1):c.187G>T (p.Gly63Cys)	HTRA1 (G63C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506662	NM_002775.5(HTRA1):c.205G>C (p.Gly69Arg)	HTRA1 (G69R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 978704	NM_002775.5(HTRA1):c.235C>T (p.Gln79Ter)	HTRA1 (Q79*)	Single nucleotide variant (nonsense)	CARASIL syndrome	GLikely pathogenic
Select item 299046	NM_002775.5(HTRA1):c.245C>G (p.Pro82Arg)	HTRA1 (P82R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2175159	NM_002775.5(HTRA1):c.246G>C (p.Pro82=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3236343	NM_002775.5(HTRA1):c.260T>G (p.Leu87Arg)	HTRA1 (L87R)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	GUncertain significance
Select item 2869962	NM_002775.5(HTRA1):c.263A>T (p.Gln88Leu)	HTRA1 (Q88L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504420	NM_002775.5(HTRA1):c.267C>A (p.Cys89Ter)	HTRA1 (C89*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2570778	NM_002775.5(HTRA1):c.272dup (p.Pro92fs)	HTRA1 (P92fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1341619	NM_002775.5(HTRA1):c.278_280delinsCC (p.Phe93fs)	HTRA1 (F93fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 1679747	NM_002775.5(HTRA1):c.283G>T (p.Val95Leu)	HTRA1 (V95L)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	GUncertain significance
Select item 2989235	NM_002775.5(HTRA1):c.300G>A (p.Thr100=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 806579	NM_002775.5(HTRA1):c.323G>T (p.Gly108Val)	HTRA1 (G108V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790412	NM_002775.5(HTRA1):c.327C>G (p.Leu109=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716166	NM_002775.5(HTRA1):c.337G>T (p.Ala113Ser)	HTRA1 (A113S)	Single nucleotide variant (missense variant)	Macular degeneration +1 more	GBenign
Select item 2640906	NM_002775.5(HTRA1):c.338C>T (p.Ala113Val)	HTRA1 (A113V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 734428	NM_002775.5(HTRA1):c.351G>T (p.Pro117=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 523572	NM_002775.5(HTRA1):c.359G>A (p.Gly120Asp)	HTRA1 (G120D)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	GLikely pathogenic
Select item 1414737	NM_002775.5(HTRA1):c.370A>G (p.Asn124Asp)	HTRA1 (N124D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 299047	NM_002775.5(HTRA1):c.385C>T (p.Leu129=)	HTRA1	Single nucleotide variant (synonymous variant)	Macular degeneration	GUncertain significance
Select item 2488636	NM_002775.5(HTRA1):c.398G>A (p.Arg133His)	HTRA1 (R133H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1348076	NM_002775.5(HTRA1):c.400G>A (p.Ala134Thr)	HTRA1 (A134T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 447571	NM_002775.5(HTRA1):c.415T>G (p.Ser139Ala)	HTRA1 (S139A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2068502	NM_002775.5(HTRA1):c.417C>G (p.Ser139=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2432660	NM_002775.5(HTRA1):c.430C>T (p.Arg144Trp)	HTRA1 (R144W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1441450	NM_002775.5(HTRA1):c.434C>A (p.Pro145Gln)	HTRA1 (P145Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2721185	NM_002775.5(HTRA1):c.437C>G (p.Pro146Arg)	HTRA1 (P146R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 871447	NM_002775.5(HTRA1):c.451C>A (p.Gln151Lys)	HTRA1 (Q151K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 424966	NM_002775.5(HTRA1):c.451C>T (p.Gln151Ter)	HTRA1 (Q151*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 798986	NM_002775.5(HTRA1):c.465C>T (p.Cys155=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1480375	NM_002775.5(HTRA1):c.466G>C (p.Gly156Arg)	HTRA1 (G156R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1986629	NM_002775.5(HTRA1):c.470A>G (p.Gln157Arg)	HTRA1 (Q157R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973808	NM_002775.5(HTRA1):c.472+2T>C	HTRA1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 299048	NM_002775.5(HTRA1):c.472+6C>A	HTRA1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 162172	NM_002775.5(HTRA1):c.472+4990G>T	HTRA1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 1263788	NM_002775.5(HTRA1):c.473-176C>G	HTRA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2986255	NM_002775.5(HTRA1):c.473-13C>A	HTRA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 299049	NM_002775.5(HTRA1):c.473-8G>T	HTRA1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1442921	NM_002775.5(HTRA1):c.491G>A (p.Ser164Asn)	HTRA1 (S164N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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