ClinVar for Gene (Select 5654) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3107609	NM_002775.5(HTRA1):c.76C>T (p.Arg26Trp)	HTRA1 (R26W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3107607	NM_002775.5(HTRA1):c.1222G>A (p.Val408Met)	HTRA1 (V408M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3054596	NM_002775.5(HTRA1):c.837G>A (p.Val279=)	HTRA1	Single nucleotide variant (synonymous variant)	HTRA1-related condition	GLikely benign
Select item 3054268	NM_002775.5(HTRA1):c.1275-7G>A	HTRA1	Single nucleotide variant (intron variant)	HTRA1-related condition	GLikely benign
Select item 3050934	NM_002775.5(HTRA1):c.840C>T (p.Val280=)	HTRA1	Single nucleotide variant (synonymous variant)	HTRA1-related condition	GLikely benign
Select item 3049420	NM_002775.5(HTRA1):c.1156C>T (p.Arg386Ter)	HTRA1 (R386*)	Single nucleotide variant (nonsense)	HTRA1-related condition +1 more	GLikely pathogenic
Select item 3047796	NM_002775.5(HTRA1):c.1182A>G (p.Lys394=)	HTRA1	Single nucleotide variant (synonymous variant)	HTRA1-related condition	GLikely benign
Select item 3046807	NM_002775.5(HTRA1):c.27C>G (p.Leu9=)	HTRA1	Single nucleotide variant (synonymous variant)	HTRA1-related condition	GLikely benign
Select item 3043534	NM_002775.5(HTRA1):c.1095G>A (p.Thr365=)	HTRA1	Single nucleotide variant (synonymous variant)	HTRA1-related condition	GLikely benign
Select item 3031274	NM_002775.5(HTRA1):c.1144T>C (p.Tyr382His)	HTRA1 (Y382H)	Single nucleotide variant (missense variant)	HTRA1-related condition	GUncertain significance
Select item 3023090	NM_002775.5(HTRA1):c.838G>A (p.Val280Ile)	HTRA1 (V280I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005460	NM_002775.5(HTRA1):c.1134C>T (p.Thr378=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993689	NM_002775.5(HTRA1):c.1086G>A (p.Lys362=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989302	NM_002775.5(HTRA1):c.150G>A (p.Pro50=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989235	NM_002775.5(HTRA1):c.300G>A (p.Thr100=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988257	NM_002775.5(HTRA1):c.1120+5G>A	HTRA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2986596	NM_002775.5(HTRA1):c.572+12C>T	HTRA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986255	NM_002775.5(HTRA1):c.473-13C>A	HTRA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985721	NM_002775.5(HTRA1):c.645C>T (p.Ile215=)	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 2973735	NM_002775.5(HTRA1):c.1178+17C>T	HTRA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972675	NM_002775.5(HTRA1):c.632A>C (p.Glu211Ala)	HTRA1 (E211A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972365	NM_002775.5(HTRA1):c.970A>G (p.Asn324Asp)	HTRA1 (N324D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963473	NM_002775.5(HTRA1):c.1152T>C (p.Gly384=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962843	NM_002775.5(HTRA1):c.572+20T>C	HTRA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2962810	NM_002775.5(HTRA1):c.1210G>A (p.Asp404Asn)	HTRA1 (D404N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902091	NM_002775.5(HTRA1):c.1347C>T (p.Ser449=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2869962	NM_002775.5(HTRA1):c.263A>T (p.Gln88Leu)	HTRA1 (Q88L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866295	NM_002775.5(HTRA1):c.1174T>C (p.Ser392Pro)	HTRA1 (S392P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2851827	NM_002775.5(HTRA1):c.610G>A (p.Gly204Arg)	HTRA1 (G204R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2834863	NM_002775.5(HTRA1):c.1254T>C (p.Ile418=)	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 2803753	NM_002775.5(HTRA1):c.756A>G (p.Ala252=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799614	NM_002775.5(HTRA1):c.34delinsTCCT (p.Leu11_Leu12insSer)	HTRA1	Indel (inframe_insertion)	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 2790391	NM_002775.5(HTRA1):c.778-15C>T	HTRA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778548	NM_002775.5(HTRA1):c.9C>A (p.Ile3=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2767785	NM_002775.5(HTRA1):c.842_847dup (p.Ile282_Gly283insAlaIle)	HTRA1	Duplication (inframe_insertion)	not provided	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 2759225	NM_002775.5(HTRA1):c.569G>A (p.Arg190His)	HTRA1 (R190H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754639	NM_002775.5(HTRA1):c.1179-16T>G	HTRA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2728132	NM_002775.5(HTRA1):c.909C>T (p.Gly303=)	HTRA1	Single nucleotide variant (synonymous variant)	HTRA1-related condition +1 more	GLikely benign
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 2714194	NM_002775.5(HTRA1):c.859T>C (p.Ser287Pro)	HTRA1 (S287P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2712966	NM_002775.5(HTRA1):c.1207C>T (p.Arg403Trp)	HTRA1 (R403W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2692368	NM_002775.5(HTRA1):c.910G>C (p.Gly304Arg)	HTRA1 (G304R)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	GUncertain significance
Select item 2691386	NC_000010.10:g.(?_124221068)_(124274424_?)dup	HTRA1	Duplication	not specified	GUncertain significance
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 2684150	NM_002775.5(HTRA1):c.8T>A (p.Ile3Asn)	HTRA1 (I3N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2664005	NM_002775.5(HTRA1):c.1127C>T (p.Ala376Val)	HTRA1 (A376V)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	GUncertain significance
Select item 2640907	NM_002775.5(HTRA1):c.806G>A (p.Arg269His)	HTRA1 (R269H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2640905	NM_002775.5(HTRA1):c.112C>G (p.Pro38Ala)	HTRA1 (P38A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2640904	NM_002775.5(HTRA1):c.84C>A (p.Gly28=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635827	NM_002775.5(HTRA1):c.691G>A (p.Glu231Lys)	HTRA1 (E231K)	Single nucleotide variant (missense variant)	HTRA1-related condition	GUncertain significance
Select item 2629666	NM_002775.5(HTRA1):c.539C>T (p.Ala180Val)	HTRA1 (A180V)	Single nucleotide variant (missense variant)	HTRA1-related condition	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 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 2573769	NM_002775.5(HTRA1):c.646G>A (p.Val216Met)	HTRA1 (V216M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2570778	NM_002775.5(HTRA1):c.272dup (p.Pro92fs)	HTRA1 (P92fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 2500388	NM_002775.5(HTRA1):c.1195A>C (p.Lys399Gln)	HTRA1 (K399Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2488737	NM_002775.5(HTRA1):c.775C>G (p.Gln259Glu)	HTRA1 (Q259E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 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 2485249	NM_002775.5(HTRA1):c.809C>A (p.Ser270Tyr)	HTRA1 (S270Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2432661	NM_002775.5(HTRA1):c.1408A>G (p.Met470Val)	HTRA1 (M470V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2432659	NM_002775.5(HTRA1):c.989G>A (p.Gly330Asp)	HTRA1 (G330D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432658	NM_002775.5(HTRA1):c.1348G>C (p.Asp450His)	HTRA1 (D450H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2424540	NC_000010.10:g.(?_124214244)_(124273875_?)dup	ARMS2, HTRA1	Duplication	not provided	GUncertain significance
Select item 2424539	NC_000010.10:g.(?_124248398)_(124249162_?)del	HTRA1	Deletion	not provided	GPathogenic
Select item 2422456	NC_000010.10:g.(?_123239371)_(124813281_?)del	BTBD16, FAM24A +15 more	Deletion	FGFR2-related craniosynostosis	GUncertain significance
Select item 2193526	NM_002775.5(HTRA1):c.1387C>T (p.Arg463Cys)	HTRA1 (R463C)	Single nucleotide variant (missense variant)	not provided	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 2155370	NM_002775.5(HTRA1):c.1351G>A (p.Val451Ile)	HTRA1 (V451I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2106920	NM_002775.5(HTRA1):c.1230A>C (p.Ser410=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2096505	NM_002775.5(HTRA1):c.1158A>C (p.Arg386=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2068502	NM_002775.5(HTRA1):c.417C>G (p.Ser139=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2063647	NM_002775.5(HTRA1):c.504A>G (p.Lys168=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2062250	NM_002775.5(HTRA1):c.1011T>C (p.Gly337=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2059894	NM_002775.5(HTRA1):c.778-7G>A	HTRA1	Single nucleotide variant (intron 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 2049920	NM_002775.5(HTRA1):c.782A>G (p.Lys261Arg)	HTRA1 (K261R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2044915	NM_002775.5(HTRA1):c.624T>C (p.Ile208=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2037779	NM_002775.5(HTRA1):c.1379T>C (p.Met460Thr)	HTRA1 (M460T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2018353	NM_002775.5(HTRA1):c.1282C>G (p.Leu428Val)	HTRA1 (L428V)	Single nucleotide variant (missense variant)	not provided	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 1968459	NM_002775.5(HTRA1):c.809C>T (p.Ser270Phe)	HTRA1 (S270F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1962477	NM_002775.5(HTRA1):c.777+6G>A	HTRA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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