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320 records found for search term Htra1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
11666066CV320486single nucleotide variantNM_002775.5(HTRA1):c.-57C>AMacular degeneration [RCV000313936]|not provided [RCV004706758]likely benign10122461596122461596Human2name
11603425CV309635single nucleotide variantNM_002775.5(HTRA1):c.*296C>GMacular degeneration [RCV000299709]likely benign10122514655122514655Human2name
11663000CV320495single nucleotide variantNM_002775.5(HTRA1):c.*217T>AMacular degeneration [RCV000391126]uncertain significance10122514576122514576Human2name
11608728CV320496single nucleotide variantNM_002775.5(HTRA1):c.*446G>AMacular degeneration [RCV000359140]uncertain significance10122514805122514805Human2name
11608342CV321000single nucleotide variantNM_002775.5(HTRA1):c.*191G>TMacular degeneration [RCV000353453]uncertain significance10122514550122514550Human2name
28898066CV865533single nucleotide variantNM_002775.5(HTRA1):c.*460C>TMacular degeneration [RCV001102843]uncertain significance10122514819122514819Human2name
152109715CV1563921single nucleotide variantNM_002775.5(HTRA1):c.973-6T>Cnot provided [RCV002174180]likely benign10122507364122507364Humanname
152999283CV1679725single nucleotide variantNM_002775.5(HTRA1):c.972+1G>CCerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV002251114]likely pathogenic10122506886122506886Human1name
156239232CV1996290single nucleotide variantNM_002775.5(HTRA1):c.972+1G>AAge related macular degeneration 7 [RCV004066843]|not provided [RCV002667870]pathogenic|likely pathogenic10122506886122506886Human1name
156402812CV2010125single nucleotide variantNM_002775.5(HTRA1):c.777+6G>Anot provided [RCV002726160]uncertain significance10122489632122489632Humanname
156043809CV2026506single nucleotide variantNM_002775.5(HTRA1):c.472+2T>Cnot provided [RCV002736282]likely pathogenic10122462126122462126Humanname
156200181CV2110007single nucleotide variantNM_002775.5(HTRA1):c.778-7G>Anot provided [RCV002957350]likely benign|uncertain significance10122506684122506684Humanname
10768773CV222929single nucleotide variantNM_002775.5(HTRA1):c.973-1G>ACerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000206946]pathogenic10122507369122507369Human1name
11605994CV314439single nucleotide variantNM_002775.5(HTRA1):c.472+6C>AMacular degeneration [RCV000326266]|not provided [RCV000923031]likely benign|uncertain significance10122462130122462130Human2name
11610397CV320973single nucleotide variantNM_002775.5(HTRA1):c.473-8G>TMacular degeneration [RCV000380837]|not provided [RCV000901659]benign|likely benign10122488894122488894Human2name
597962034CV3753585single nucleotide variantNM_002775.5(HTRA1):c.777+1G>Anot provided [RCV005081889]likely pathogenic10122489627122489627Humanname
13446250CV437878single nucleotide variantNM_002775.5(HTRA1):c.573-8G>Anot provided [RCV000513477]conflicting interpretations of pathogenicity|uncertain significance10122489414122489414Humanname
15121307CV759943single nucleotide variantNM_002775.5(HTRA1):c.973-7A>Tnot provided [RCV000918460]likely benign10122507363122507363Humanname
127305066CV1156376single nucleotide variantNM_002775.5(HTRA1):c.778-20G>Anot provided [RCV001516140]benign10122506671122506671Humanname
150484354CV1222473single nucleotide variantNM_002775.5(HTRA1):c.972+99C>Tnot provided [RCV001617476]benign10122506984122506984Humanname
150460557CV1264191single nucleotide variantNM_002775.5(HTRA1):c.777+93C>Tnot provided [RCV001682107]benign10122489719122489719Humanname
151727383CV1482428single nucleotide variantNM_002775.5(HTRA1):c.1275-3C>THTRA1-related disorder [RCV004749832]|not provided [RCV002020946]likely benign|uncertain significance10122514188122514188Humanname , trait , alternate_id
152054323CV1575166single nucleotide variantNM_002775.5(HTRA1):c.778-16G>Anot provided [RCV002109353]benign10122506675122506675Humanname
156221459CV1960247single nucleotide variantNM_002775.5(HTRA1):c.777+17C>Tnot provided [RCV002575544]likely benign10122489643122489643Humanname
156415877CV1966308single nucleotide variantNM_002775.5(HTRA1):c.1275-9G>Anot provided [RCV002589409]likely benign10122514182122514182Humanname
156406067CV2004587single nucleotide variantNM_002775.5(HTRA1):c.973-20T>Anot provided [RCV002658463]likely benign10122507350122507350Humanname
405148642CV2960155single nucleotide variantNM_002775.5(HTRA1):c.778-15C>Tnot provided [RCV003669845]likely benign10122506676122506676Humanname
11611165CV309634single nucleotide variantNM_002775.5(HTRA1):c.1274+8G>ACARASIL syndrome [RCV001701995]|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001702418]|Macular degeneration [RCV000391119]|not provided [RCV000711024]|not specified [RCV001528818]benign|likely benign10122512073122512073Human4name
405000190CV3120163single nucleotide variantNM_002775.5(HTRA1):c.572+20T>Cnot provided [RCV003827953]benign10122489021122489021Humanname
405214781CV3143088single nucleotide variantNM_002775.5(HTRA1):c.572+12C>Tnot provided [RCV003846251]likely benign10122489013122489013Humanname
405200503CV3143454single nucleotide variantNM_002775.5(HTRA1):c.1120+5G>Anot provided [RCV003844440]uncertain significance10122508775122508775Humanname
405196491CV3146571single nucleotide variantNM_002775.5(HTRA1):c.473-13C>Anot provided [RCV003843926]likely benign10122488889122488889Humanname
405290467CV3219961single nucleotide variantNM_002775.5(HTRA1):c.1275-7G>AHTRA1-related disorder [RCV003962287]likely benign10122514184122514184Humanname , trait , alternate_id
597902473CV3804507single nucleotide variantNM_002775.5(HTRA1):c.973-18A>Gnot provided [RCV005152942]likely benign10122507352122507352Humanname
28904981CV868454single nucleotide variantNM_002775.5(HTRA1):c.777+14C>TMacular degeneration [RCV001105824]|not provided [RCV002558059]benign|uncertain significance10122489640122489640Human2name
127290136CV1156377single nucleotide variantNM_002775.5(HTRA1):c.1178+18G>Anot provided [RCV001509661]benign10122510171122510171Humanname
150473504CV1234291single nucleotide variantNM_002775.5(HTRA1):c.777+167G>Anot provided [RCV001651610]benign10122489793122489793Humanname
150436019CV1249341single nucleotide variantNM_002775.5(HTRA1):c.1275-36C>TCARASIL syndrome [RCV001703045]|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001702227]|not provided [RCV001666773]benign10122514155122514155Human5name
150490969CV1251114single nucleotide variantNM_002775.5(HTRA1):c.473-176C>Gnot provided [RCV001674782]benign10122488726122488726Humanname
150472434CV1272489single nucleotide variantNM_002775.5(HTRA1):c.972+215G>Anot provided [RCV001695545]benign10122507100122507100Humanname
152104290CV1544663single nucleotide variantNM_002775.5(HTRA1):c.1006-20G>Anot provided [RCV002115744]benign10122508636122508636Humanname
152036638CV1605499single nucleotide variantNM_002775.5(HTRA1):c.1121-13G>Anot provided [RCV002107094]likely benign10122510083122510083Humanname
156381621CV1994845single nucleotide variantNM_002775.5(HTRA1):c.1178+12G>Anot provided [RCV002653703]likely benign10122510165122510165Humanname
405180961CV2914080single nucleotide variantNM_002775.5(HTRA1):c.1179-16T>Gnot provided [RCV003563962]uncertain significance10122511954122511954Humanname
405069773CV3140154single nucleotide variantNM_002775.5(HTRA1):c.1178+17C>Tnot provided [RCV003833309]likely benign10122510170122510170Humanname
11603292CV320494single nucleotide variantNM_002775.5(HTRA1):c.1274+14G>ACARASIL syndrome [RCV001701939]|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001701940]|Macular degeneration [RCV000298544]|not provided [RCV001518133]|not specified [RCV001530169]benign|likely benign10122512079122512079Human4name
150437082CV1235519single nucleotide variantNM_002775.5(HTRA1):c.1120+115C>Gnot provided [RCV001644305]benign10122508885122508885Humanname
150456016CV1236828deletionNM_002775.5(HTRA1):c.1179-211delnot provided [RCV001648564]benign10122511759122511759Humanname
150471978CV1270183deletionNM_002775.5(HTRA1):c.1179-220delnot provided [RCV001695471]benign10122511750122511750Humanname
150458877CV1278841single nucleotide variantNM_002775.5(HTRA1):c.1120+254G>Cnot provided [RCV001709458]benign10122509024122509024Humanname
150437631CV1286576single nucleotide variantNM_002775.5(HTRA1):c.1005+169G>Anot provided [RCV001724655]benign10122507571122507571Humanname
10395508CV171885single nucleotide variantNM_002775.5(HTRA1):c.472+4990G>Tnot provided [RCV000190309]not provided10122467114122467114Human11name
10395508CV171885single nucleotide variantNM_002775.5(HTRA1):c.472+4990G>Tnot provided [RCV000190309]not provided10122467114122467115Human11name
150466686CV1277446microsatelliteNM_002775.5(HTRA1):c.1005+74TTGT[2]not provided [RCV001710741]benign10122507476122507479Humanname
402500891CV2943586single nucleotide variantNM_002775.5(HTRA1):c.9C>A (p.Ile3=)not provided [RCV003661551]likely benign10122461661122461661Humanname
152027464CV1636281single nucleotide variantNM_002775.5(HTRA1):c.15C>G (p.Arg5=)not provided [RCV002085140]likely benign10122461667122461667Humanname
405265644CV3215568single nucleotide variantNM_002775.5(HTRA1):c.27C>G (p.Leu9=)HTRA1-related disorder [RCV003946757]likely benign10122461679122461679Humanname , trait , alternate_id
28897777CV865524single nucleotide variantNM_002775.5(HTRA1):c.12G>T (p.Pro4=)Macular degeneration [RCV001102735]|not provided [RCV001815498]|not specified [RCV005236602]likely benign|uncertain significance10122461664122461664Human2name
401903795CV2809690single nucleotide variantNM_002775.5(HTRA1):c.84C>A (p.Gly28=)not provided [RCV003394545]likely benign10122461736122461736Humanname
401962580CV2845185single nucleotide variantNM_002775.5(HTRA1):c.8T>A (p.Ile3Asn)not provided [RCV003482646]uncertain significance10122461660122461660Humanname
405063473CV2926414single nucleotide variantNM_002775.5(HTRA1):c.70C>T (p.Leu24=)not provided [RCV003580538]likely benign10122461722122461722Humanname
15156470CV737383single nucleotide variantNM_002775.5(HTRA1):c.96T>G (p.Pro32=)not provided [RCV000902336]likely benign10122461748122461748Humanname
28880160CV859786single nucleotide variantNM_002775.5(HTRA1):c.34C>T (p.Leu12=)Macular degeneration [RCV001102736]|not provided [RCV001091418]likely benign|uncertain significance10122461686122461686Human2name
150431752CV1246036single nucleotide variantNM_002775.5(HTRA1):c.165C>A (p.Gly55=)not provided [RCV002073090]|not specified [RCV001663448]likely benign10122461817122461817Humanname
153304419CV1687004single nucleotide variantNM_002775.5(HTRA1):c.126G>A (p.Glu42=)not provided [RCV002262292]likely benign10122461778122461778Humanname
156357395CV1901298single nucleotide variantNM_002775.5(HTRA1):c.246G>C (p.Pro82=)not provided [RCV002602262]likely benign10122461898122461898Humanname
329373843CV2452545single nucleotide variantNM_002775.5(HTRA1):c.20C>G (p.Ala7Gly)Inborn genetic diseases [RCV003210527]|not provided [RCV003482457]uncertain significance10122461672122461672Human1name
405050313CV3150849single nucleotide variantNM_002775.5(HTRA1):c.150G>A (p.Pro50=)not provided [RCV003849453]likely benign10122461802122461802Humanname
8601082CV34176single nucleotide variantNM_002775.5(HTRA1):c.102C>T (p.Ala34=)CARASIL syndrome [RCV000020489]|Macular degeneration [RCV000334821]|not provided [RCV001522700]benign|likely benign10122461754122461754Human3name
8601083CV34177single nucleotide variantNM_002775.5(HTRA1):c.108G>C (p.Gly36=)CARASIL syndrome [RCV000020490]|Macular degeneration [RCV000265972]|not provided [RCV001515967]|not specified [RCV001794460]benign|likely benign10122461760122461760Human3name
8601084CV34178single nucleotide variantNM_002775.5(HTRA1):c.108G>T (p.Gly36=)CARASIL syndrome [RCV000020491]|Macular degeneration [RCV000313539]|not provided [RCV001522701]benign|likely benign10122461760122461760Human3name
597852137CV3747063single nucleotide variantNM_002775.5(HTRA1):c.123C>T (p.Cys41=)not provided [RCV005060692]likely benign10122461775122461775Humanname
597955367CV3841221single nucleotide variantNM_002775.5(HTRA1):c.204C>T (p.Cys68=)not provided [RCV005191340]likely benign10122461856122461856Humanname
598226027CV3895720duplicationNM_002775.5(HTRA1):c.35dup (p.Leu13fs)CARASIL syndrome [RCV005362032]uncertain significance10122461686122461687Human2name
15109144CV752006single nucleotide variantNM_002775.5(HTRA1):c.180C>T (p.Asp60=)not provided [RCV000916279]likely benign10122461832122461832Humanname
15134841CV783551single nucleotide variantNM_002775.5(HTRA1):c.144G>T (p.Pro48=)not provided [RCV000981819]likely benign10122461796122461796Humanname
28897774CV865523single nucleotide variantNM_002775.5(HTRA1):c.10C>T (p.Pro4Ser)Macular degeneration [RCV001102734]|not provided [RCV005093488]uncertain significance10122461662122461662Human2name
8646932CV106449single nucleotide variantNM_002775.5(HTRA1):c.753C>T (p.Ile251=)Macular degeneration [RCV000291036]|not provided [RCV000086954]|not specified [RCV001795157]benign|likely benign|not provided10122489602122489602Human2name
151855483CV1448712single nucleotide variantNM_002775.5(HTRA1):c.972C>T (p.Asn324=)not provided [RCV001979469]uncertain significance10122506885122506885Humanname
152154834CV1520058single nucleotide variantNM_002775.5(HTRA1):c.672C>T (p.Asn224=)not provided [RCV002140040]likely benign10122489521122489521Humanname
152051312CV1596847single nucleotide variantNM_002775.5(HTRA1):c.579G>A (p.Pro193=)not provided [RCV002166913]likely benign10122489428122489428Humanname
152067641CV1600257single nucleotide variantNM_002775.5(HTRA1):c.603G>A (p.Val201=)not provided [RCV002111006]likely benign10122489452122489452Humanname
152086077CV1633660single nucleotide variantNM_002775.5(HTRA1):c.996A>G (p.Leu332=)not provided [RCV002113405]benign10122507393122507393Humanname
9832094CV165898deletionNM_002775.5(HTRA1):c.126del (p.Glu42fs)CARASIL syndrome [RCV000157766]pathogenic|likely pathogenic|not provided10122461778122461778Human1name
153349930CV1693543single nucleotide variantNM_002775.5(HTRA1):c.92C>T (p.Ala31Val)Inborn genetic diseases [RCV004982966]|not provided [RCV002276362]uncertain significance10122461744122461744Human1name
156114229CV1958112single nucleotide variantNM_002775.5(HTRA1):c.702C>T (p.Asn234=)not provided [RCV002592886]likely benign10122489551122489551Humanname
156066155CV1975433single nucleotide variantNM_002775.5(HTRA1):c.540C>T (p.Ala180=)not provided [RCV002591134]likely benign10122488969122488969Humanname
156097694CV1981058single nucleotide variantNM_002775.5(HTRA1):c.879C>A (p.Thr293=)not provided [RCV002622095]likely benign|conflicting interpretations of pathogenicity10122506792122506792Humanname
156200815CV2092488single nucleotide variantNM_002775.5(HTRA1):c.624T>C (p.Ile208=)not provided [RCV002917781]likely benign10122489473122489473Humanname
156040438CV2121503single nucleotide variantNM_002775.5(HTRA1):c.504A>G (p.Lys168=)not provided [RCV002923894]likely benign10122488933122488933Humanname
155994250CV2126025single nucleotide variantNM_002775.5(HTRA1):c.417C>G (p.Ser139=)not provided [RCV002974874]likely benign10122462069122462069Humanname
401724546CV2735736duplicationNM_002775.5(HTRA1):c.272dup (p.Pro92fs)not provided [RCV003312179]pathogenic10122461923122461924Humanname
401828732CV2743067single nucleotide variantNM_002775.5(HTRA1):c.74C>T (p.Ser25Phe)not provided [RCV003325775]uncertain significance10122461726122461726Humanname
405124906CV2889470single nucleotide variantNM_002775.5(HTRA1):c.909C>T (p.Gly303=)HTRA1-related disorder [RCV003946718]|not provided [RCV003559389]likely benign10122506822122506822Humanname , trait , alternate_id
405148728CV2960176single nucleotide variantNM_002775.5(HTRA1):c.327C>G (p.Leu109=)not provided [RCV003669855]likely benign10122461979122461979Humanname
405227713CV2963577single nucleotide variantNM_002775.5(HTRA1):c.756A>G (p.Ala252=)not provided [RCV003681671]likely benign10122489605122489605Humanname
405235926CV2976507single nucleotide variantNM_002775.5(HTRA1):c.92C>A (p.Ala31Glu)not provided [RCV003682975]uncertain significance10122461744122461744Humanname
11601813CV309628single nucleotide variantNM_002775.5(HTRA1):c.385C>T (p.Leu129=)Macular degeneration [RCV000285342]uncertain significance10122462037122462037Human2name
11607684CV309632single nucleotide variantNM_002775.5(HTRA1):c.843C>T (p.Ala281=)Macular degeneration [RCV000346013]|not provided [RCV003718161]likely benign|uncertain significance10122506756122506756Human2name
405213406CV3142678single nucleotide variantNM_002775.5(HTRA1):c.73T>C (p.Ser25Pro)not provided [RCV003846035]uncertain significance10122461725122461725Humanname
405169522CV3149857single nucleotide variantNM_002775.5(HTRA1):c.645C>T (p.Ile215=)not provided [RCV003841328]likely benign10122489494122489494Humanname
405050089CV3150782single nucleotide variantNM_002775.5(HTRA1):c.300G>A (p.Thr100=)not provided [RCV003849386]likely benign10122461952122461952Humanname
11665218CV320969single nucleotide variantNM_002775.5(HTRA1):c.59C>T (p.Ala20Val)CARASIL syndrome [RCV000576298]|Macular degeneration [RCV000259894]|not provided [RCV001511034]|not specified [RCV001795917]benign|likely benign10122461711122461711Human3name
11665566CV320970single nucleotide variantNM_002775.5(HTRA1):c.77G>A (p.Arg26Gln)Macular degeneration [RCV000279664]|not provided [RCV000711026]benign|likely benign10122461729122461729Human2name
11611871CV320983single nucleotide variantNM_002775.5(HTRA1):c.879C>T (p.Thr293=)Macular degeneration [RCV000400395]|not provided [RCV000761751]|not specified [RCV000517598]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance10122506792122506792Human2name
405282497CV3212919single nucleotide variantNM_002775.5(HTRA1):c.840C>T (p.Val280=)HTRA1-related disorder [RCV003957038]likely benign10122506753122506753Humanname , trait , alternate_id
405267499CV3219257single nucleotide variantNM_002775.5(HTRA1):c.837G>A (p.Val279=)HTRA1-related disorder [RCV003969524]likely benign10122506750122506750Humanname , trait , alternate_id
405779853CV3270712single nucleotide variantNM_002775.5(HTRA1):c.62C>T (p.Ser21Leu)Inborn genetic diseases [RCV004397441]|not provided [RCV005065041]uncertain significance10122461714122461714Human1name
405779859CV3270713single nucleotide variantNM_002775.5(HTRA1):c.76C>T (p.Arg26Trp)Inborn genetic diseases [RCV004397442]uncertain significance10122461728122461728Human1name
596945274CV3547787single nucleotide variantNM_002775.5(HTRA1):c.990C>A (p.Gly330=)not provided [RCV004809118]likely benign10122507387122507387Humanname
597698441CV3686228single nucleotide variantNM_002775.5(HTRA1):c.53C>A (p.Ala18Glu)Inborn genetic diseases [RCV004987582]uncertain significance10122461705122461705Human1name
597879500CV3744711single nucleotide variantNM_002775.5(HTRA1):c.86G>A (p.Arg29His)not provided [RCV005069736]uncertain significance10122461738122461738Humanname
597969869CV3753510single nucleotide variantNM_002775.5(HTRA1):c.546C>T (p.Ala182=)not provided [RCV005083995]likely benign10122488975122488975Humanname
12905805CV413301single nucleotide variantNM_002775.5(HTRA1):c.957C>T (p.Thr319=)HTRA1-related disorder [RCV004748785]|not provided [RCV000488019]likely benign|conflicting interpretations of pathogenicity|uncertain significance10122506870122506870Humanname , trait , alternate_id
15190090CV737384single nucleotide variantNM_002775.5(HTRA1):c.351G>T (p.Pro117=)not provided [RCV000909847]likely benign10122462003122462003Humanname
15140421CV752007single nucleotide variantNM_002775.5(HTRA1):c.846C>T (p.Ile282=)not provided [RCV000921674]likely benign10122506759122506759Humanname
15138972CV783552single nucleotide variantNM_002775.5(HTRA1):c.465C>T (p.Cys155=)not provided [RCV000982558]likely benign10122462117122462117Humanname
28904983CV865529single nucleotide variantNM_002775.5(HTRA1):c.834C>T (p.Phe278=)Macular degeneration [RCV001105825]|not provided [RCV002067784]benign|likely benign10122506747122506747Human2name
28904986CV865530single nucleotide variantNM_002775.5(HTRA1):c.840C>A (p.Val280=)Macular degeneration [RCV001105826]uncertain significance10122506753122506753Human2name
151726425CV1433496single nucleotide variantNM_002775.5(HTRA1):c.152A>G (p.Glu51Gly)not provided [RCV001983733]uncertain significance10122461804122461804Humanname
151727401CV1499140single nucleotide variantNM_002775.5(HTRA1):c.124G>A (p.Glu42Lys)not provided [RCV002040855]uncertain significance10122461776122461776Humanname
151789866CV1515291single nucleotide variantNM_002775.5(HTRA1):c.127C>T (p.Pro43Ser)not provided [RCV002027117]uncertain significance10122461779122461779Humanname
152111594CV1520358single nucleotide variantNM_002775.5(HTRA1):c.1173G>A (p.Thr391=)not provided [RCV002196847]likely benign10122510148122510148Humanname
152044820CV1534541single nucleotide variantNM_002775.5(HTRA1):c.1008C>T (p.Asp336=)not provided [RCV002088425]likely benign10122508658122508658Humanname
152115761CV1540862single nucleotide variantNM_002775.5(HTRA1):c.1389C>T (p.Arg463=)not provided [RCV002197376]likely benign10122514305122514305Humanname
152088186CV1541273single nucleotide variantNM_002775.5(HTRA1):c.1314T>C (p.Asn438=)not provided [RCV002171479]likely benign10122514230122514230Humanname
152130620CV1567744single nucleotide variantNM_002775.5(HTRA1):c.1296C>T (p.Asp432=)not provided [RCV002218019]likely benign10122514212122514212Humanname
152162246CV1584764single nucleotide variantNM_002775.5(HTRA1):c.1323C>T (p.Ser441=)not provided [RCV002123413]likely benign10122514239122514239Humanname
152134122CV1590347single nucleotide variantNM_002775.5(HTRA1):c.1095G>C (p.Thr365=)not provided [RCV002218475]likely benign10122508745122508745Humanname
152156492CV1615784single nucleotide variantNM_002775.5(HTRA1):c.1413C>T (p.Ile471=)not provided [RCV002158926]likely benign10122514329122514329Humanname
152978493CV1671666single nucleotide variantNM_002775.5(HTRA1):c.283G>T (p.Val95Leu)Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV002227771]uncertain significance10122461935122461935Human1name
155644002CV1708321deletionNM_002775.5(HTRA1):c.671del (p.Asn224fs)Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV002290310]likely pathogenic10122489519122489519Human1name
156212821CV2018950single nucleotide variantNM_002775.5(HTRA1):c.187G>T (p.Gly63Cys)not provided [RCV002700692]uncertain significance10122461839122461839Humanname
156021054CV2105694single nucleotide variantNM_002775.5(HTRA1):c.148C>G (p.Pro50Ala)not provided [RCV002923064]uncertain significance10122461800122461800Humanname
156115702CV2117523single nucleotide variantNM_002775.5(HTRA1):c.1011T>C (p.Gly337=)not provided [RCV002953298]likely benign10122508661122508661Humanname
155977458CV2146656single nucleotide variantNM_002775.5(HTRA1):c.1158A>C (p.Arg386=)not provided [RCV003016218]likely benign10122510133122510133Humanname
156262700CV2169974single nucleotide variantNM_002775.5(HTRA1):c.1230A>C (p.Ser410=)not provided [RCV003026711]likely benign10122512021122512021Humanname
329952288CV2671635single nucleotide variantNM_002775.5(HTRA1):c.205G>C (p.Gly69Arg)Inborn genetic diseases [RCV003274364]|not provided [RCV003237031]uncertain significance10122461857122461857Human1name
401903798CV2809691single nucleotide variantNM_002775.5(HTRA1):c.112C>G (p.Pro38Ala)not provided [RCV003394546]uncertain significance10122461764122461764Humanname
405021365CV3001915single nucleotide variantNM_002775.5(HTRA1):c.1254T>C (p.Ile418=)not provided [RCV003694724]likely benign10122512045122512045Humanname
405122962CV3020971single nucleotide variantNM_002775.5(HTRA1):c.263A>T (p.Gln88Leu)not provided [RCV003700957]uncertain significance10122461915122461915Humanname
405223745CV3061139single nucleotide variantNM_002775.5(HTRA1):c.1347C>T (p.Ser449=)not provided [RCV003733587]likely benign10122514263122514263Humanname
405206345CV3064304single nucleotide variantNM_002775.5(HTRA1):c.161A>C (p.Glu54Ala)not provided [RCV003731360]uncertain significance10122461813122461813Humanname
11610312CV309626single nucleotide variantNM_002775.5(HTRA1):c.245C>G (p.Pro82Arg)HTRA1-related disorder [RCV003401285]|Inborn genetic diseases [RCV002520541]|Macular degeneration [RCV000379814]|not provided [RCV001172043]|not specified [RCV005418067]uncertain significance10122461897122461897Human3name , trait , alternate_id
405210034CV3117340single nucleotide variantNM_002775.5(HTRA1):c.1152T>C (p.Gly384=)not provided [RCV003823127]likely benign10122510127122510127Humanname
405233499CV3145007single nucleotide variantNM_002775.5(HTRA1):c.1086G>A (p.Lys362=)not provided [RCV003853264]likely benign10122508736122508736Humanname
405245779CV3161874single nucleotide variantNM_002775.5(HTRA1):c.1134C>T (p.Thr378=)not provided [RCV003868587]likely benign10122510109122510109Humanname
405295347CV3209366single nucleotide variantNM_002775.5(HTRA1):c.1182A>G (p.Lys394=)HTRA1-related disorder [RCV003937251]likely benign10122511973122511973Humanname , trait , alternate_id
11602602CV320985single nucleotide variantNM_002775.5(HTRA1):c.1221C>T (p.Asp407=)Macular degeneration [RCV000292204]|not provided [RCV000894560]|not specified [RCV004999270]benign|likely benign10122512012122512012Human2name
405294394CV3214894single nucleotide variantNM_002775.5(HTRA1):c.1095G>A (p.Thr365=)HTRA1-related disorder [RCV003934295]likely benign10122508745122508745Humanname , trait , alternate_id
405779841CV3270710single nucleotide variantNM_002775.5(HTRA1):c.118C>G (p.Arg40Gly)Inborn genetic diseases [RCV004397439]uncertain significance10122461770122461770Human1name
405853990CV3395463single nucleotide variantNM_002775.5(HTRA1):c.260T>G (p.Leu87Arg)Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV004555719]uncertain significance10122461912122461912Human1name
597698422CV3686225single nucleotide variantNM_002775.5(HTRA1):c.107G>C (p.Gly36Ala)Inborn genetic diseases [RCV004987579]uncertain significance10122461759122461759Human1name
597698436CV3686227single nucleotide variantNM_002775.5(HTRA1):c.198G>C (p.Glu66Asp)Inborn genetic diseases [RCV004987581]uncertain significance10122461850122461850Human1name
597906249CV3738738single nucleotide variantNM_002775.5(HTRA1):c.101C>T (p.Ala34Val)not provided [RCV005072972]uncertain significance10122461753122461753Humanname
597832321CV3751333single nucleotide variantNM_002775.5(HTRA1):c.151G>C (p.Glu51Gln)not provided [RCV005084879]uncertain significance10122461803122461803Humanname
597935955CV3845339single nucleotide variantNM_002775.5(HTRA1):c.1332C>T (p.Ser444=)not provided [RCV005186652]likely benign10122514248122514248Humanname
598256689CV3968458single nucleotide variantNM_002775.5(HTRA1):c.140C>A (p.Pro47Gln)Inborn genetic diseases [RCV005346846]uncertain significance10122461792122461792Human1name
616937797CV4014820single nucleotide variantNM_002775.5(HTRA1):c.196G>C (p.Glu66Gln)not provided [RCV005411836]uncertain significance10122461848122461848Humanname
13521525CV495418single nucleotide variantNM_002775.5(HTRA1):c.267C>A (p.Cys89Ter)not provided [RCV000599520]pathogenic|likely pathogenic10122461919122461919Humanname
13612611CV514225deletionNM_002775.5(HTRA1):c.543del (p.Ala182fs)Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627025]|not provided [RCV001860484]pathogenic10122488972122488972Human1name
15181545CV723823single nucleotide variantNM_002775.5(HTRA1):c.1065C>T (p.Ile355=)not provided [RCV000885790]likely benign10122508715122508715Humanname
15104195CV752008single nucleotide variantNM_002775.5(HTRA1):c.1350C>T (p.Asp450=)Macular degeneration [RCV001102842]|not provided [RCV000915305]likely benign|uncertain significance10122514266122514266Human2name
15114071CV752009single nucleotide variantNM_002775.5(HTRA1):c.1416A>T (p.Thr472=)not provided [RCV000917208]likely benign10122514332122514332Humanname
15195071CV767656single nucleotide variantNM_002775.5(HTRA1):c.1425C>T (p.Pro475=)not provided [RCV000933828]likely benign10122514341122514341Humanname
28902423CV865525single nucleotide variantNM_002775.5(HTRA1):c.133C>T (p.Arg45Cys)Macular degeneration [RCV001104658]uncertain significance10122461785122461785Human2name
28902426CV865526single nucleotide variantNM_002775.5(HTRA1):c.176G>C (p.Arg59Pro)Macular degeneration [RCV001104659]|not provided [RCV003130155]conflicting interpretations of pathogenicity|uncertain significance10122461828122461828Human2name
38597870CV964340single nucleotide variantNM_002775.5(HTRA1):c.138C>A (p.Cys46Ter)Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001253237]uncertain significance10122461790122461790Human1name
42723053CV966777single nucleotide variantNM_002775.5(HTRA1):c.235C>T (p.Gln79Ter)CARASIL syndrome [RCV001293044]likely pathogenic10122461887122461887Human1name
150338180CV1173844single nucleotide variantNM_002775.5(HTRA1):c.820C>G (p.Arg274Gly)Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001542097]likely pathogenic10122506733122506733Human1name
150339489CV1174829single nucleotide variantNM_002775.5(HTRA1):c.847G>A (p.Gly283Arg)Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV004785272]|HTRA1-related cerebral small vessel disease [RCV004587176]|Vascular dementia [RCV002051728]|not provided [RCV001543535]pathogenic|likely pathogenic|uncertain significance10122506760122506760Human3name , trait
150443098CV1264544microsatelliteNM_002775.5(HTRA1):c.1179-216_1179-204delnot provided [RCV001679528]benign10122511738122511750Humanname
150466379CV1277395deletionNM_002775.5(HTRA1):c.1179-226_1179-225delnot provided [RCV001710690]benign10122511733122511734Humanname
150438085CV1286788single nucleotide variantNM_002775.5(HTRA1):c.983C>T (p.Ser328Leu)Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001724734]uncertain significance10122507380122507380Human1name
150528531CV1288361single nucleotide variantNM_002775.5(HTRA1):c.518C>T (p.Ala173Val)not provided [RCV001726829]uncertain significance10122488947122488947Humanname
150549976CV1299760single nucleotide variantNM_002775.5(HTRA1):c.893G>A (p.Ser298Asn)not provided [RCV001752686]uncertain significance10122506806122506806Humanname
150547553CV1316080single nucleotide variantNM_002775.5(HTRA1):c.496C>T (p.Arg166Cys)Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001785356]|not provided [RCV002291765]pathogenic|likely pathogenic10122488925122488925Human1name
151351674CV1323543single nucleotide variantNM_002775.5(HTRA1):c.905G>A (p.Arg302Gln)CARASIL syndrome [RCV001806399]|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001810331]|not provided [RCV002542419]pathogenic|likely pathogenic10122506818122506818Human2name
151349160CV1324361single nucleotide variantNM_002775.5(HTRA1):c.590G>A (p.Arg197Gln)Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001808278]uncertain significance10122489439122489439Human1name
151749506CV1338368single nucleotide variantNM_002775.5(HTRA1):c.743A>G (p.Lys248Arg)not provided [RCV001927378]uncertain significance10122489592122489592Humanname
151776301CV1358718single nucleotide variantNM_002775.5(HTRA1):c.434C>A (p.Pro145Gln)Inborn genetic diseases [RCV002562793]|not provided [RCV001950641]uncertain significance10122462086122462086Human1name
151783079CV1369939single nucleotide variantNM_002775.5(HTRA1):c.370A>G (p.Asn124Asp)not provided [RCV001930622]uncertain significance10122462022122462022Humanname
151870756CV1371808single nucleotide variantNM_002775.5(HTRA1):c.491G>A (p.Ser164Asn)not provided [RCV001960391]uncertain significance10122488920122488920Humanname
151854289CV1372619single nucleotide variantNM_002775.5(HTRA1):c.728A>G (p.Lys243Arg)not provided [RCV001996345]uncertain significance10122489577122489577Humanname
151866620CV1381500single nucleotide variantNM_002775.5(HTRA1):c.547G>A (p.Val183Met)not provided [RCV001905962]uncertain significance10122488976122488976Humanname
151858780CV1398348single nucleotide variantNM_002775.5(HTRA1):c.820C>T (p.Arg274Trp)CARASIL syndrome [RCV002479734]|Inborn genetic diseases [RCV002642139]|not provided [RCV002017499]uncertain significance10122506733122506733Human4name
151763654CV1403046single nucleotide variantNM_002775.5(HTRA1):c.743A>C (p.Lys248Thr)not provided [RCV001914277]uncertain significance10122489592122489592Humanname
151804872CV1432454single nucleotide variantNM_002775.5(HTRA1):c.466G>C (p.Gly156Arg)Inborn genetic diseases [RCV004042412]|not provided [RCV001991284]uncertain significance10122462118122462118Human1name
151776236CV1439509single nucleotide variantNM_002775.5(HTRA1):c.599C>T (p.Pro200Leu)CARASIL syndrome [RCV004813202]|not provided [RCV002009316]uncertain significance10122489448122489448Human1name
151759744CV1459307single nucleotide variantNM_002775.5(HTRA1):c.400G>A (p.Ala134Thr)not provided [RCV002044135]uncertain significance10122462052122462052Humanname
151728428CV1486691single nucleotide variantNM_002775.5(HTRA1):c.679C>T (p.Arg227Trp)HTRA1-related disorder [RCV004749761]|not provided [RCV001891991]uncertain significance10122489528122489528Humanname , trait , alternate_id
151781793CV1486763single nucleotide variantNM_002775.5(HTRA1):c.710C>T (p.Thr237Ile)not provided [RCV001915947]uncertain significance10122489559122489559Humanname
9589594CV165895single nucleotide variantNM_002775.5(HTRA1):c.821G>A (p.Arg274Gln)CARASIL syndrome [RCV000144147]|not provided [RCV003556181]pathogenic|likely pathogenic|not provided10122506734122506734Human1name
9589595CV165896single nucleotide variantNM_002775.5(HTRA1):c.854C>T (p.Pro285Leu)CARASIL syndrome [RCV000144148]|HTRA1-related cerebral small vessel disease [RCV003398782]|not provided [RCV001091420]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided10122506767122506767Human1name , trait
9831528CV165899single nucleotide variantNM_002775.5(HTRA1):c.961G>A (p.Ala321Thr)CARASIL syndrome [RCV000157765]|Vascular dementia [RCV001263182]|not provided [RCV001797058]pathogenic|likely pathogenic|uncertain significance|not provided10122506874122506874Human2name
152999736CV1683303single nucleotide variantNM_002775.5(HTRA1):c.703G>A (p.Gly235Ser)See cases [RCV002252487]uncertain significance10122489552122489552Humanname
155266496CV1699062single nucleotide variantNM_002775.5(HTRA1):c.958G>A (p.Asp320Asn)Age related macular degeneration 7 [RCV002282856]|HTRA1-related disorder [RCV003943344]|not provided [RCV003325599]pathogenic|uncertain significance10122506871122506871Human1name , trait , alternate_id
155642937CV1707576single nucleotide variantNM_002775.5(HTRA1):c.857T>C (p.Phe286Ser)Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV002289037]uncertain significance10122506770122506770Human1name
155800852CV1863847single nucleotide variantNM_002775.5(HTRA1):c.940A>G (p.Met314Val)not provided [RCV002474270]uncertain significance10122506853122506853Humanname
156407718CV1957587single nucleotide variantNM_002775.5(HTRA1):c.992C>T (p.Pro331Leu)not provided [RCV002586310]uncertain significance10122507389122507389Humanname
156120452CV1969149single nucleotide variantNM_002775.5(HTRA1):c.497G>A (p.Arg166His)CARASIL syndrome [RCV005412426]|not provided [RCV002593107]likely pathogenic|uncertain significance|not provided10122488926122488926Human2name
156010946CV1991889single nucleotide variantNM_002775.5(HTRA1):c.523G>C (p.Val175Leu)not provided [RCV002618901]conflicting interpretations of pathogenicity|uncertain significance10122488952122488952Humanname
156212232CV2028467single nucleotide variantNM_002775.5(HTRA1):c.809C>T (p.Ser270Phe)not provided [RCV002711807]uncertain significance10122506722122506722Humanname
156288164CV2047075single nucleotide variantNM_002775.5(HTRA1):c.470A>G (p.Gln157Arg)not provided [RCV002770652]uncertain significance10122462122122462122Humanname
156314173CV2107807single nucleotide variantNM_002775.5(HTRA1):c.782A>G (p.Lys261Arg)Inborn genetic diseases [RCV004632096]|not provided [RCV002937343]uncertain significance10122506695122506695Human1name
10768757CV222926single nucleotide variantNM_002775.5(HTRA1):c.497G>T (p.Arg166Leu)Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000206925]pathogenic10122488926122488926Human1name
10768799CV222927single nucleotide variantNM_002775.5(HTRA1):c.517G>C (p.Ala173Pro)Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000206984]pathogenic10122488946122488946Human1name
10768738CV222928single nucleotide variantNM_002775.5(HTRA1):c.852C>A (p.Ser284Arg)Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000206899]pathogenic10122506765122506765Human1name
8597537CV22527single nucleotide variantNM_002775.5(HTRA1):c.904C>T (p.Arg302Ter)CARASIL syndrome [RCV000007917]|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001250521]|Seizure [RCV001003543]|Small vessel cerebrovascular disease [RCV001003928]|not provided [RCV001851726]pathogenic|likely pathogenic10122506817122506817Human7name
8597538CV22528single nucleotide variantNM_002775.5(HTRA1):c.889G>A (p.Val297Met)CARASIL syndrome [RCV000007918]pathogenic10122506802122506802Human1name
8597539CV22529single nucleotide variantNM_002775.5(HTRA1):c.754G>A (p.Ala252Thr)CARASIL syndrome [RCV000007919]|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV005414319]pathogenic10122489603122489603Human2name
243060109CV2407913single nucleotide variantNM_002775.5(HTRA1):c.989G>A (p.Gly330Asp)not provided [RCV003135694]uncertain significance10122507386122507386Humanname
243060110CV2407914single nucleotide variantNM_002775.5(HTRA1):c.430C>T (p.Arg144Trp)not provided [RCV003135695]uncertain significance10122462082122462082Humanname
329395927CV2463078single nucleotide variantNM_002775.5(HTRA1):c.809C>A (p.Ser270Tyr)Inborn genetic diseases [RCV003219324]uncertain significance10122506722122506722Human1name
329352675CV2470302single nucleotide variantNM_002775.5(HTRA1):c.398G>A (p.Arg133His)Inborn genetic diseases [RCV003200682]uncertain significance10122462050122462050Human1name
329392126CV2470403single nucleotide variantNM_002775.5(HTRA1):c.775C>G (p.Gln259Glu)Inborn genetic diseases [RCV003217609]likely benign10122489624122489624Human1name
401740376CV2738711single nucleotide variantNM_002775.5(HTRA1):c.646G>A (p.Val216Met)not provided [RCV003318105]uncertain significance10122489495122489495Humanname
401916857CV2797648single nucleotide variantNM_002775.5(HTRA1):c.691G>A (p.Glu231Lys)HTRA1-related disorder [RCV003429079]uncertain significance10122489540122489540Humanname , trait , alternate_id
401934981CV2803123single nucleotide variantNM_002775.5(HTRA1):c.539C>T (p.Ala180Val)HTRA1-related disorder [RCV003412283]uncertain significance10122488968122488968Humanname , trait , alternate_id
401903800CV2809692single nucleotide variantNM_002775.5(HTRA1):c.338C>T (p.Ala113Val)not provided [RCV003394547]uncertain significance10122461990122461990Humanname
401903801CV2809693single nucleotide variantNM_002775.5(HTRA1):c.806G>A (p.Arg269His)not provided [RCV003394548]uncertain significance10122506719122506719Humanname
405027029CV2853369single nucleotide variantNM_002775.5(HTRA1):c.910G>C (p.Gly304Arg)Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV003494559]uncertain significance10122506823122506823Human1name
405195345CV2868732single nucleotide variantNM_002775.5(HTRA1):c.859T>C (p.Ser287Pro)not provided [RCV003550795]uncertain significance10122506772122506772Humanname
405224223CV2887711single nucleotide variantNM_002775.5(HTRA1):c.437C>G (p.Pro146Arg)not provided [RCV003554383]uncertain significance10122462089122462089Humanname
405188137CV2917807single nucleotide variantNM_002775.5(HTRA1):c.569G>A (p.Arg190His)not provided [RCV003564627]uncertain significance10122488998122488998Humanname
405002434CV3016155single nucleotide variantNM_002775.5(HTRA1):c.610G>A (p.Gly204Arg)not provided [RCV003693306]uncertain significance10122489459122489459Humanname
405106974CV3136145single nucleotide variantNM_002775.5(HTRA1):c.970A>G (p.Asn324Asp)not provided [RCV003835491]uncertain significance10122506883122506883Humanname
405124704CV3136455single nucleotide variantNM_002775.5(HTRA1):c.632A>C (p.Glu211Ala)not provided [RCV003837785]uncertain significance10122489481122489481Humanname
404997676CV3172994single nucleotide variantNM_002775.5(HTRA1):c.838G>A (p.Val280Ile)not provided [RCV003882276]uncertain significance10122506751122506751Humanname
407465340CV3444243single nucleotide variantNM_002775.5(HTRA1):c.526G>T (p.Val176Leu)Inborn genetic diseases [RCV004635340]uncertain significance10122488955122488955Human1name
408369859CV3502875single nucleotide variantNM_002775.5(HTRA1):c.645C>G (p.Ile215Met)not provided [RCV004723996]uncertain significance10122489494122489494Humanname
408390119CV3519208single nucleotide variantNM_002775.5(HTRA1):c.506A>T (p.Tyr169Phe)not provided [RCV004762517]uncertain significance10122488935122488935Humanname
596920454CV3534635single nucleotide variantNM_002775.5(HTRA1):c.443T>A (p.Ile148Asn)not specified [RCV004782196]uncertain significance10122462095122462095Humanname
597915829CV3740765single nucleotide variantNM_002775.5(HTRA1):c.805C>T (p.Arg269Cys)not provided [RCV005074102]uncertain significance10122506718122506718Humanname
597879895CV3826314single nucleotide variantNM_002775.5(HTRA1):c.418G>A (p.Glu140Lys)not provided [RCV005178010]uncertain significance10122462070122462070Humanname
597975802CV3828704single nucleotide variantNM_002775.5(HTRA1):c.386T>G (p.Leu129Arg)not provided [RCV005169333]uncertain significance10122462038122462038Humanname
598226015CV3895718single nucleotide variantNM_002775.5(HTRA1):c.941T>C (p.Met314Thr)CARASIL syndrome [RCV005362030]uncertain significance10122506854122506854Human2name
8602165CV39200single nucleotide variantNM_002775.5(HTRA1):c.883G>A (p.Gly295Arg)CARASIL syndrome [RCV000023168]|not provided [RCV001852016]pathogenic|likely pathogenic10122506796122506796Human1name
598256692CV3968459single nucleotide variantNM_002775.5(HTRA1):c.325C>T (p.Leu109Phe)Inborn genetic diseases [RCV005346847]uncertain significance10122461977122461977Human1name
616939879CV4014404single nucleotide variantNM_002775.5(HTRA1):c.629C>T (p.Ser210Leu)not provided [RCV005413898]uncertain significance10122489478122489478Humanname
12905589CV413300single nucleotide variantNM_002775.5(HTRA1):c.451C>T (p.Gln151Ter)not provided [RCV000487710]likely pathogenic10122462103122462103Humanname
13445810CV437879single nucleotide variantNM_002775.5(HTRA1):c.589C>T (p.Arg197Ter)CARASIL syndrome [RCV003989546]|not provided [RCV000512888]pathogenic|likely pathogenic|uncertain significance10122489438122489438Human1name
13481808CV441364single nucleotide variantNM_002775.5(HTRA1):c.415T>G (p.Ser139Ala)not provided [RCV001851441]|not specified [RCV000517689]likely benign|uncertain significance10122462067122462067Humanname
13485469CV441365single nucleotide variantNM_002775.5(HTRA1):c.523G>A (p.Val175Met)not provided [RCV001644604]uncertain significance10122488952122488952Humanname
13478916CV441366single nucleotide variantNM_002775.5(HTRA1):c.616G>A (p.Gly206Arg)not specified [RCV000516829]uncertain significance10122489465122489465Humanname
13519309CV486046single nucleotide variantNM_002775.5(HTRA1):c.888C>G (p.Ile296Met)not provided [RCV000585556]uncertain significance10122506801122506801Humanname
13612599CV514223single nucleotide variantNM_002775.5(HTRA1):c.359G>A (p.Gly120Asp)Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627023]likely pathogenic10122462011122462011Human1name
13612607CV514224single nucleotide variantNM_002775.5(HTRA1):c.536T>A (p.Ile179Asn)Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627024]likely pathogenic10122488965122488965Human1name
13612617CV514226single nucleotide variantNM_002775.5(HTRA1):c.767T>C (p.Ile256Thr)Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627026]|not specified [RCV005407820]pathogenic|uncertain significance10122489616122489616Human1name
13612624CV514227single nucleotide variantNM_002775.5(HTRA1):c.827G>C (p.Gly276Ala)Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627027]likely pathogenic10122506740122506740Human1name
13612633CV514228single nucleotide variantNM_002775.5(HTRA1):c.865C>T (p.Gln289Ter)Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627028]|not provided [RCV001860485]pathogenic10122506778122506778Human1name
13612642CV514229single nucleotide variantNM_002775.5(HTRA1):c.971A>C (p.Asn324Thr)Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627029]likely pathogenic10122506884122506884Human1name
13785976CV550880single nucleotide variantNM_002775.5(HTRA1):c.614C>G (p.Ser205Cys)CARASIL syndrome [RCV000678044]pathogenic10122489463122489463Human1name
13808732CV577146single nucleotide variantNM_002775.5(HTRA1):c.517G>T (p.Ala173Ser)not provided [RCV000711025]|not specified [RCV003235372]uncertain significance10122488946122488946Humanname
15192784CV723822single nucleotide variantNM_002775.5(HTRA1):c.337G>T (p.Ala113Ser)Macular degeneration [RCV001104660]|not provided [RCV000888759]|not specified [RCV004997467]benign10122461989122461989Human2name
21073538CV793364single nucleotide variantNM_002775.5(HTRA1):c.884G>A (p.Gly295Glu)not provided [RCV000991734]uncertain significance10122506797122506797Humanname
21073677CV796373single nucleotide variantNM_002775.5(HTRA1):c.323G>T (p.Gly108Val)not provided [RCV000994522]uncertain significance10122461975122461975Humanname
26903882CV858653single nucleotide variantNM_002775.5(HTRA1):c.660C>G (p.His220Gln)CARASIL syndrome [RCV001090042]|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV005245721]|not provided [RCV002554804]likely pathogenic|uncertain significance10122489509122489509Human2name
28880168CV859787single nucleotide variantNM_002775.5(HTRA1):c.451C>A (p.Gln151Lys)CARASIL syndrome [RCV005359864]|HTRA1-related disorder [RCV004749604]|Macular degeneration [RCV001104661]|not provided [RCV001091419]uncertain significance10122462103122462103Human4name , trait , alternate_id
28904977CV865527single nucleotide variantNM_002775.5(HTRA1):c.578C>T (p.Pro193Leu)Inborn genetic diseases [RCV004032113]|Macular degeneration [RCV001105822]|not provided [RCV002558058]uncertain significance10122489427122489427Human3name
28904978CV865528single nucleotide variantNM_002775.5(HTRA1):c.770A>C (p.Asp257Ala)Macular degeneration [RCV001105823]uncertain significance10122489619122489619Human2name
28908842CV865531single nucleotide variantNM_002775.5(HTRA1):c.844A>C (p.Ile282Leu)Macular degeneration [RCV001108055]uncertain significance10122506757122506757Human2name
39456602CV965880single nucleotide variantNM_002775.5(HTRA1):c.835G>A (p.Val279Met)Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001255607]|not provided [RCV001726471]uncertain significance10122506748122506748Human1name
150508172CV1244761single nucleotide variantNM_002775.5(HTRA1):c.1348G>A (p.Asp450Asn)not provided [RCV001659010]uncertain significance10122514264122514264Humanname
150431753CV1246037single nucleotide variantNM_002775.5(HTRA1):c.1048G>A (p.Gly350Arg)not provided [RCV001663449]uncertain significance10122508698122508698Humanname
151348041CV1321772single nucleotide variantNM_002775.5(HTRA1):c.1274C>T (p.Ala425Val)CARASIL syndrome [RCV001802756]pathogenic10122512065122512065Human1name
151353130CV1326026single nucleotide variantNM_002775.5(HTRA1):c.1423C>G (p.Pro475Ala)Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy [RCV003994335]|not provided [RCV001816094]uncertain significance10122514339122514339Human1name
151770500CV1339997single nucleotide variantNM_002775.5(HTRA1):c.1201C>T (p.Arg401Trp)not provided [RCV001874401]uncertain significance10122511992122511992Humanname
151772482CV1357234single nucleotide variantNM_002775.5(HTRA1):c.1130T>A (p.Ile377Asn)not provided [RCV001864208]uncertain significance10122510105122510105Humanname
151790592CV1373527single nucleotide variantNM_002775.5(HTRA1):c.1249G>A (p.Val417Ile)not provided [RCV001898139]uncertain significance10122512040122512040Humanname
151746999CV1375141single nucleotide variantNM_002775.5(HTRA1):c.1172C>T (p.Thr391Met)not provided [RCV001947710]uncertain significance10122510147122510147Humanname
151826263CV1467256single nucleotide variantNM_002775.5(HTRA1):c.1086G>T (p.Lys362Asn)not provided [RCV001901360]uncertain significance10122508736122508736Humanname
151846742CV1501841single nucleotide variantNM_002775.5(HTRA1):c.1136A>G (p.Lys379Arg)not provided [RCV002016017]uncertain significance10122510111122510111Humanname
151734842CV1502391single nucleotide variantNM_002775.5(HTRA1):c.1414A>T (p.Thr472Ser)Inborn genetic diseases [RCV002553628]|not provided [RCV001911270]uncertain significance10122514330122514330Human1name
9589596CV165897single nucleotide variantNM_002775.5(HTRA1):c.1091T>C (p.Leu364Pro)CARASIL syndrome [RCV000144149]pathogenic|not provided10122508741122508741Human1name
155641486CV1706999single nucleotide variantNM_002775.5(HTRA1):c.1215C>G (p.Phe405Leu)not provided [RCV002287929]uncertain significance10122512006122512006Humanname
156411021CV1892851single nucleotide variantNM_002775.5(HTRA1):c.1351G>A (p.Val451Ile)not provided [RCV003072302]uncertain significance10122514267122514267Humanname
156419013CV1929202single nucleotide variantNM_002775.5(HTRA1):c.1387C>T (p.Arg463Cys)not provided [RCV002612226]uncertain significance10122514303122514303Humanname
156103180CV1956673single nucleotide variantNM_002775.5(HTRA1):c.1388G>A (p.Arg463His)not provided [RCV002570924]uncertain significance10122514304122514304Humanname
156222719CV1965552single nucleotide variantNM_002775.5(HTRA1):c.1208G>A (p.Arg403Gln)not provided [RCV002596520]uncertain significance10122511999122511999Humanname
155991174CV1990505single nucleotide variantNM_002775.5(HTRA1):c.1420A>G (p.Ile474Val)not provided [RCV002618028]uncertain significance10122514336122514336Humanname
156108139CV2072437single nucleotide variantNM_002775.5(HTRA1):c.1282C>G (p.Leu428Val)not provided [RCV002870791]uncertain significance10122514198122514198Humanname
155988820CV2094400single nucleotide variantNM_002775.5(HTRA1):c.1379T>C (p.Met460Thr)not provided [RCV002882292]uncertain significance10122514295122514295Humanname
8597536CV22526single nucleotide variantNM_002775.5(HTRA1):c.1108C>T (p.Arg370Ter)CARASIL syndrome [RCV000007916]|HTRA1-related cerebral small vessel disease [RCV000779017]|not provided [RCV002512882]pathogenic|likely pathogenic10122508758122508758Human1name , trait
243060108CV2407912single nucleotide variantNM_002775.5(HTRA1):c.1348G>C (p.Asp450His)not provided [RCV003135693]uncertain significance10122514264122514264Humanname
243060111CV2407915single nucleotide variantNM_002775.5(HTRA1):c.1408A>G (p.Met470Val)not provided [RCV003135696]uncertain significance10122514324122514324Humanname
329848543CV2523286single nucleotide variantNM_002775.5(HTRA1):c.1195A>C (p.Lys399Gln)not provided [RCV003225300]uncertain significance10122511986122511986Humanname
401905465CV2831475single nucleotide variantNM_002775.5(HTRA1):c.1127C>T (p.Ala376Val)Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV003444467]uncertain significance10122510102122510102Human1name
405065424CV2879113single nucleotide variantNM_002775.5(HTRA1):c.1207C>T (p.Arg403Trp)not provided [RCV003548205]likely benign10122511998122511998Humanname
405177309CV3023768single nucleotide variantNM_002775.5(HTRA1):c.1174T>C (p.Ser392Pro)not provided [RCV003705122]uncertain significance10122510149122510149Humanname
404999015CV3120130single nucleotide variantNM_002775.5(HTRA1):c.1210G>A (p.Asp404Asn)not provided [RCV003827920]uncertain significance10122512001122512001Humanname
11608189CV314441single nucleotide variantNM_002775.5(HTRA1):c.1260T>A (p.Asp420Glu)HTRA1-related disorder [RCV003417963]|Macular degeneration [RCV000352185]uncertain significance10122512051122512051Human2name , trait , alternate_id
405263637CV3189826single nucleotide variantNM_002775.5(HTRA1):c.1144T>C (p.Tyr382His)HTRA1-related disorder [RCV003896874]uncertain significance10122510119122510119Humanname , trait , alternate_id
405285621CV3209684single nucleotide variantNM_002775.5(HTRA1):c.1156C>T (p.Arg386Ter)CARASIL syndrome [RCV003989870]|HTRA1-related cerebral small vessel disease [RCV004767511]|HTRA1-related disorder [RCV003959258]pathogenic|likely pathogenic10122510131122510131Human1name , trait , alternate_id
405779845CV3270711single nucleotide variantNM_002775.5(HTRA1):c.1222G>A (p.Val408Met)Inborn genetic diseases [RCV004397440]uncertain significance10122512013122512013Human1name
408390270CV3525010single nucleotide variantNM_002775.5(HTRA1):c.1066C>T (p.Pro356Ser)not provided [RCV004769905]uncertain significance10122508716122508716Humanname
596920626CV3534076single nucleotide variantNM_002775.5(HTRA1):c.1341T>G (p.Asp447Glu)not specified [RCV004783294]uncertain significance10122514257122514257Humanname
596932551CV3539173single nucleotide variantNM_002775.5(HTRA1):c.1438C>T (p.Pro480Ser)not provided [RCV004793299]uncertain significance10122514354122514354Humanname
597698429CV3686226single nucleotide variantNM_002775.5(HTRA1):c.1208G>C (p.Arg403Pro)Inborn genetic diseases [RCV004987580]uncertain significance10122511999122511999Human1name
597698446CV3686229single nucleotide variantNM_002775.5(HTRA1):c.1423C>T (p.Pro475Ser)Inborn genetic diseases [RCV004987583]uncertain significance10122514339122514339Human1name
597698451CV3686230single nucleotide variantNM_002775.5(HTRA1):c.1213T>G (p.Phe405Val)Inborn genetic diseases [RCV004987584]uncertain significance10122512004122512004Human1name
597886932CV3787485single nucleotide variantNM_002775.5(HTRA1):c.1015G>A (p.Val339Met)not provided [RCV005125051]uncertain significance10122508665122508665Humanname
597839016CV3824877single nucleotide variantNM_002775.5(HTRA1):c.1306A>G (p.Ser436Gly)not provided [RCV005171741]uncertain significance10122514222122514222Humanname
597897073CV3834682single nucleotide variantNM_002775.5(HTRA1):c.1076A>G (p.Lys359Arg)not provided [RCV005180593]uncertain significance10122508726122508726Humanname
597875685CV3859802single nucleotide variantNM_002775.5(HTRA1):c.1073A>G (p.Asp358Gly)not provided [RCV005198209]uncertain significance10122508723122508723Humanname
597875714CV3859806single nucleotide variantNM_002775.5(HTRA1):c.1262C>T (p.Thr421Ile)not provided [RCV005198213]uncertain significance10122512053122512053Humanname
15175627CV737385single nucleotide variantNM_002775.5(HTRA1):c.1094C>T (p.Thr365Met)Macular degeneration [RCV001108056]|not provided [RCV000906260]likely benign10122508744122508744Human2name
21073535CV793363microsatelliteNM_002775.5(HTRA1):c.31CTG[7] (p.Leu16dup)not provided [RCV000991733]|not specified [RCV005408618]uncertain significance10122461681122461682Humanname
28898061CV865532single nucleotide variantNM_002775.5(HTRA1):c.1333G>A (p.Ala445Thr)CARASIL syndrome [RCV001328991]|HTRA1-related disorder [RCV003393841]|Inborn genetic diseases [RCV002555000]|Macular degeneration [RCV001102841]|not provided [RCV001726430]uncertain significance10122514249122514249Human4name , trait , alternate_id
150460818CV1234693insertionNM_002775.5(HTRA1):c.1179-205_1179-204insTAnot provided [RCV001649275]benign10122511764122511765Humanname
155794389CV1858659deletionNM_002775.5(HTRA1):c.175_178del (p.Arg59fs)Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV002463470]pathogenic10122461827122461830Human1name
156228689CV2019569deletionNM_002775.5(HTRA1):c.184_185del (p.Cys62fs)HTRA1-related autosomal dominant cerebral small vessel disease [RCV003324043]|not provided [RCV002701276]pathogenic10122461835122461836Human1name , trait
598226021CV3895719insertionNM_002775.5(HTRA1):c.33_34insTC (p.Leu12fs)CARASIL syndrome [RCV005362031]uncertain significance10122461685122461686Human2name
151770920CV1366296microsatelliteNM_002775.5(HTRA1):c.530AGA[1] (p.Lys178del)not provided [RCV001929512]uncertain significance10122488959122488961Humanname
41406797CV982736deletionNM_002775.5(HTRA1):c.529_531del (p.Glu177del)not provided [RCV001288907]uncertain significance10122488957122488959Humanname
126731430CV1000688deletionNM_002775.5(HTRA1):c.1394_1395del (p.Gly465fs)not provided [RCV001310580]uncertain significance10122514310122514311Humanname
151662085CV1332868indelNM_002775.5(HTRA1):c.278_280delinsCC (p.Phe93fs)not provided [RCV001837115]likely pathogenic10122461930122461932Humanname
11635475CV320958insertionNM_002775.5(HTRA1):c.33_34insTCC (p.Leu11_Leu12insSer)Macular degeneration [RCV000354631]|not provided [RCV001091417]likely benign|conflicting interpretations of pathogenicity|uncertain significance10122461685122461686Human2name
405134011CV2959438indelNM_002775.5(HTRA1):c.34delinsTCCT (p.Leu11_Leu12insSer)HTRA1-related disorder [RCV004750403]|not provided [RCV003668633]uncertain significance10122461686122461686Humanname , trait , alternate_id
402502500CV2932397duplicationNM_002775.5(HTRA1):c.842_847dup (p.Ile282_Gly283insAlaIle)not provided [RCV003574068]uncertain significance10122506751122506752Humanname