NM_002775.5(HTRA1):c.616G>A (p.Gly206Arg) |
single nucleotide variant |
not specified [RCV000516829] |
Chr10:122489465 [GRCh38] Chr10:124248981 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.883G>A (p.Gly295Arg) |
single nucleotide variant |
CARASIL syndrome [RCV000023168]|not provided [RCV001852016] |
Chr10:122506796 [GRCh38] Chr10:124266312 [GRCh37] Chr10:10q26.13 |
pathogenic|likely pathogenic |
NM_002775.5(HTRA1):c.102C>T (p.Ala34=) |
single nucleotide variant |
CARASIL syndrome [RCV000020489]|Macular degeneration [RCV000334821]|not provided [RCV001522700] |
Chr10:122461754 [GRCh38] Chr10:124221270 [GRCh37] Chr10:10q26.13 |
benign|likely benign |
NM_002775.5(HTRA1):c.108G>C (p.Gly36=) |
single nucleotide variant |
CARASIL syndrome [RCV000020490]|Macular degeneration [RCV000265972]|not provided [RCV001515967]|not specified [RCV001794460] |
Chr10:122461760 [GRCh38] Chr10:124221276 [GRCh37] Chr10:10q26.13 |
benign|likely benign |
NM_002775.5(HTRA1):c.108G>T (p.Gly36=) |
single nucleotide variant |
CARASIL syndrome [RCV000020491]|Macular degeneration [RCV000313539]|not provided [RCV001522701] |
Chr10:122461760 [GRCh38] Chr10:124221276 [GRCh37] Chr10:10q26.13 |
benign|likely benign |
NM_002775.4(HTRA1):c.-625G>A |
single nucleotide variant |
Age related macular degeneration 7 [RCV000007914]|Susceptibility to neovascular type of age-related macular degeneration [RCV000007915] |
Chr10:122461028 [GRCh38] Chr10:122461028..122461029 [GRCh38] Chr10:124220544 [GRCh37] Chr10:124220544..124220545 [GRCh37] Chr10:10q26.13 |
risk factor |
NM_002775.5(HTRA1):c.1108C>T (p.Arg370Ter) |
single nucleotide variant |
CARASIL syndrome [RCV000007916]|HTRA1-related cerebral small vessel disease [RCV000779017]|not provided [RCV002512882] |
Chr10:122508758 [GRCh38] Chr10:124268274 [GRCh37] Chr10:10q26.13 |
pathogenic|likely pathogenic |
NM_002775.5(HTRA1):c.904C>T (p.Arg302Ter) |
single nucleotide variant |
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] |
Chr10:122506817 [GRCh38] Chr10:124266333 [GRCh37] Chr10:10q26.13 |
pathogenic|likely pathogenic |
NM_002775.5(HTRA1):c.889G>A (p.Val297Met) |
single nucleotide variant |
CARASIL syndrome [RCV000007918] |
Chr10:122506802 [GRCh38] Chr10:124266318 [GRCh37] Chr10:10q26.13 |
pathogenic |
NM_002775.5(HTRA1):c.754G>A (p.Ala252Thr) |
single nucleotide variant |
CARASIL syndrome [RCV000007919] |
Chr10:122489603 [GRCh38] Chr10:124249119 [GRCh37] Chr10:10q26.13 |
pathogenic |
GRCh38/hg38 10q26.11-26.13(chr10:119273012-123117390)x3 |
copy number gain |
See cases [RCV000050701] |
Chr10:119273012..123117390 [GRCh38] Chr10:121032524..124876906 [GRCh37] Chr10:121022514..124866896 [NCBI36] Chr10:10q26.11-26.13 |
pathogenic |
GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3 |
copy number gain |
See cases [RCV000051218] |
Chr10:111313099..133620674 [GRCh38] Chr10:113072857..135434178 [GRCh37] Chr10:113062847..135284168 [NCBI36] Chr10:10q25.2-26.3 |
pathogenic |
GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1 |
copy number loss |
See cases [RCV000051103] |
Chr10:120454430..133620674 [GRCh38] Chr10:122213942..135434178 [GRCh37] Chr10:122203932..135284168 [NCBI36] Chr10:10q26.12-26.3 |
pathogenic |
GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1 |
copy number loss |
See cases [RCV000051069] |
Chr10:122265252..133620674 [GRCh38] Chr10:124024767..135434178 [GRCh37] Chr10:124014757..135284168 [NCBI36] Chr10:10q26.13-26.3 |
pathogenic |
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] |
Chr10:91048545..133620674 [GRCh38] Chr10:92808302..135434178 [GRCh37] Chr10:92798282..135284168 [NCBI36] Chr10:10q23.31-26.3 |
pathogenic |
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 |
copy number gain |
See cases [RCV000053564] |
Chr10:100194215..132432797 [GRCh38] Chr10:101953972..134246301 [GRCh37] Chr10:101943962..134096291 [NCBI36] Chr10:10q24.31-26.3 |
pathogenic |
GRCh38/hg38 10q25.1-26.3(chr10:106925303-133620815)x3 |
copy number gain |
See cases [RCV000053588] |
Chr10:106925303..133620815 [GRCh38] Chr10:108685061..135434319 [GRCh37] Chr10:108675051..135284309 [NCBI36] Chr10:10q25.1-26.3 |
pathogenic |
GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3 |
copy number gain |
See cases [RCV000053589] |
Chr10:117866565..133554210 [GRCh38] Chr10:119626076..135367714 [GRCh37] Chr10:119616066..135217704 [NCBI36] Chr10:10q26.11-26.3 |
pathogenic |
NM_002775.5(HTRA1):c.753C>T (p.Ile251=) |
single nucleotide variant |
Macular degeneration [RCV000291036]|not provided [RCV000086954]|not specified [RCV001795157] |
Chr10:122489602 [GRCh38] Chr10:124249118 [GRCh37] Chr10:10q26.13 |
benign|likely benign|not provided |
NM_002775.5(HTRA1):c.1215C>G (p.Phe405Leu) |
single nucleotide variant |
not provided [RCV002287929] |
Chr10:122512006 [GRCh38] Chr10:124271522 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.235C>T (p.Gln79Ter) |
single nucleotide variant |
CARASIL syndrome [RCV001293044] |
Chr10:122461887 [GRCh38] Chr10:124221403 [GRCh37] Chr10:10q26.13 |
likely pathogenic |
NM_002775.5(HTRA1):c.821G>A (p.Arg274Gln) |
single nucleotide variant |
CARASIL syndrome [RCV000144147]|not provided [RCV003556181] |
Chr10:122506734 [GRCh38] Chr10:124266250 [GRCh37] Chr10:10q26.13 |
pathogenic|likely pathogenic|not provided |
NM_002775.5(HTRA1):c.854C>T (p.Pro285Leu) |
single nucleotide variant |
CARASIL syndrome [RCV000144148]|HTRA1-related cerebral small vessel disease [RCV003398782]|not provided [RCV001091420] |
Chr10:122506767 [GRCh38] Chr10:124266283 [GRCh37] Chr10:10q26.13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_002775.5(HTRA1):c.1091T>C (p.Leu364Pro) |
single nucleotide variant |
CARASIL syndrome [RCV000144149] |
Chr10:122508741 [GRCh38] Chr10:124268257 [GRCh37] Chr10:10q26.13 |
pathogenic|not provided |
GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3 |
copy number gain |
See cases [RCV000133688] |
Chr10:108102587..133620674 [GRCh38] Chr10:109862345..135434178 [GRCh37] Chr10:109852335..135284168 [NCBI36] Chr10:10q25.1-26.3 |
pathogenic |
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 |
copy number gain |
See cases [RCV000137747] |
Chr10:100600492..133622588 [GRCh38] Chr10:102360249..135436092 [GRCh37] Chr10:102350239..135286082 [NCBI36] Chr10:10q24.31-26.3 |
pathogenic |
GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1 |
copy number loss |
See cases [RCV000139344] |
Chr10:120970558..133622588 [GRCh38] Chr10:122730071..135436092 [GRCh37] Chr10:122720061..135286082 [NCBI36] Chr10:10q26.12-26.3 |
pathogenic |
GRCh38/hg38 10q26.13(chr10:122143176-124358013)x1 |
copy number loss |
See cases [RCV000139771] |
Chr10:122143176..124358013 [GRCh38] Chr10:123902691..126046582 [GRCh37] Chr10:123892681..126036572 [NCBI36] Chr10:10q26.13 |
pathogenic |
GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3 |
copy number gain |
See cases [RCV000142005] |
Chr10:119707856..133613639 [GRCh38] Chr10:121467368..135427143 [GRCh37] Chr10:121457358..135277133 [NCBI36] Chr10:10q26.11-26.3 |
pathogenic |
GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1 |
copy number loss |
See cases [RCV000142441] |
Chr10:121588992..133620674 [GRCh38] Chr10:123348506..135434178 [GRCh37] Chr10:123338496..135284168 [NCBI36] Chr10:10q26.13-26.3 |
pathogenic |
GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1 |
copy number loss |
See cases [RCV000142737] |
Chr10:121918547..133620674 [GRCh38] Chr10:123678062..135434178 [GRCh37] Chr10:123668052..135284168 [NCBI36] Chr10:10q26.13-26.3 |
pathogenic |
NM_002775.5(HTRA1):c.961G>A (p.Ala321Thr) |
single nucleotide variant |
CARASIL syndrome [RCV000157765]|Vascular dementia [RCV001263182]|not provided [RCV001797058] |
Chr10:122506874 [GRCh38] Chr10:124266390 [GRCh37] Chr10:10q26.13 |
pathogenic|likely pathogenic|uncertain significance|not provided |
NM_002775.5(HTRA1):c.126del (p.Glu42fs) |
deletion |
CARASIL syndrome [RCV000157766] |
Chr10:122461778 [GRCh38] Chr10:124221294 [GRCh37] Chr10:10q26.13 |
pathogenic|likely pathogenic|not provided |
NM_002775.5(HTRA1):c.472+4990G>T |
single nucleotide variant |
not provided [RCV000190309] |
Chr10:122467114 [GRCh38] Chr10:122467114..122467115 [GRCh38] Chr10:124226630 [GRCh37] Chr10:124226630..124226631 [GRCh37] Chr10:10q26.13 |
not provided |
GRCh37/hg19 10q26.12-26.2(chr10:122239239-128203032)x1 |
copy number loss |
See cases [RCV000240153] |
Chr10:122239239..128203032 [GRCh37] Chr10:10q26.12-26.2 |
pathogenic |
GRCh37/hg19 10q26.13-26.3(chr10:123731209-135353867)x1 |
copy number loss |
See cases [RCV000203440] |
Chr10:123731209..135353867 [GRCh37] Chr10:10q26.13-26.3 |
pathogenic|likely pathogenic |
NM_002775.5(HTRA1):c.852C>A (p.Ser284Arg) |
single nucleotide variant |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000206899] |
Chr10:122506765 [GRCh38] Chr10:124266281 [GRCh37] Chr10:10q26.13 |
pathogenic |
NM_002775.5(HTRA1):c.497G>T (p.Arg166Leu) |
single nucleotide variant |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000206925] |
Chr10:122488926 [GRCh38] Chr10:124248442 [GRCh37] Chr10:10q26.13 |
pathogenic |
NM_002775.5(HTRA1):c.973-1G>A |
single nucleotide variant |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000206946] |
Chr10:122507369 [GRCh38] Chr10:124266885 [GRCh37] Chr10:10q26.13 |
pathogenic |
NM_002775.5(HTRA1):c.517G>C (p.Ala173Pro) |
single nucleotide variant |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000206984] |
Chr10:122488946 [GRCh38] Chr10:124248462 [GRCh37] Chr10:10q26.13 |
pathogenic |
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 |
copy number gain |
See cases [RCV000240457] |
Chr10:103288313..135512075 [GRCh37] Chr10:10q24.32-26.3 |
pathogenic |
NM_002775.5(HTRA1):c.385C>T (p.Leu129=) |
single nucleotide variant |
Macular degeneration [RCV000285342] |
Chr10:122462037 [GRCh38] Chr10:124221553 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.843C>T (p.Ala281=) |
single nucleotide variant |
Macular degeneration [RCV000346013]|not provided [RCV003718161] |
Chr10:122506756 [GRCh38] Chr10:124266272 [GRCh37] Chr10:10q26.13 |
likely benign|uncertain significance |
NM_002775.5(HTRA1):c.472+6C>A |
single nucleotide variant |
Macular degeneration [RCV000326266]|not provided [RCV000923031] |
Chr10:122462130 [GRCh38] Chr10:124221646 [GRCh37] Chr10:10q26.13 |
likely benign|uncertain significance |
NM_002775.5(HTRA1):c.1260T>A (p.Asp420Glu) |
single nucleotide variant |
HTRA1-related disorder [RCV003417963]|Macular degeneration [RCV000352185] |
Chr10:122512051 [GRCh38] Chr10:124271567 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.879C>T (p.Thr293=) |
single nucleotide variant |
Macular degeneration [RCV000400395]|not provided [RCV000761751]|not specified [RCV000517598] |
Chr10:122506792 [GRCh38] Chr10:124266308 [GRCh37] Chr10:10q26.13 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002775.5(HTRA1):c.*191G>T |
single nucleotide variant |
Macular degeneration [RCV000353453] |
Chr10:122514550 [GRCh38] Chr10:124274066 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.245C>G (p.Pro82Arg) |
single nucleotide variant |
HTRA1-related disorder [RCV003401285]|Inborn genetic diseases [RCV002520541]|Macular degeneration [RCV000379814]|not provided [RCV001172043] |
Chr10:122461897 [GRCh38] Chr10:124221413 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.1221C>T (p.Asp407=) |
single nucleotide variant |
Macular degeneration [RCV000292204]|not provided [RCV000894560] |
Chr10:122512012 [GRCh38] Chr10:124271528 [GRCh37] Chr10:10q26.13 |
benign|likely benign |
NM_002775.5(HTRA1):c.473-8G>T |
single nucleotide variant |
Macular degeneration [RCV000380837]|not provided [RCV000901659] |
Chr10:122488894 [GRCh38] Chr10:124248410 [GRCh37] Chr10:10q26.13 |
benign|likely benign |
NM_002775.5(HTRA1):c.*446G>A |
single nucleotide variant |
Macular degeneration [RCV000359140] |
Chr10:122514805 [GRCh38] Chr10:124274321 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.1274+14G>A |
single nucleotide variant |
CARASIL syndrome [RCV001701939]|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001701940]|Macular degeneration [RCV000298544]|not provided [RCV001518133]|not specified [RCV001530169] |
Chr10:122512079 [GRCh38] Chr10:124271595 [GRCh37] Chr10:10q26.13 |
benign|likely benign |
NM_002775.5(HTRA1):c.1274+8G>A |
single nucleotide variant |
CARASIL syndrome [RCV001701995]|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001702418]|Macular degeneration [RCV000391119]|not provided [RCV000711024]|not specified [RCV001528818] |
Chr10:122512073 [GRCh38] Chr10:124271589 [GRCh37] Chr10:10q26.13 |
benign|likely benign |
NM_002775.5(HTRA1):c.*296C>G |
single nucleotide variant |
Macular degeneration [RCV000299709] |
Chr10:122514655 [GRCh38] Chr10:124274171 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.33_34insTCC (p.Leu11_Leu12insSer) |
insertion |
Macular degeneration [RCV000354631]|not provided [RCV001091417] |
Chr10:122461685..122461686 [GRCh38] Chr10:124221201..124221202 [GRCh37] Chr10:10q26.13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) |
copy number loss |
Distal 10q deletion syndrome [RCV003319583] |
Chr10:12829206..135427143 [GRCh37] Chr10:10p13-q26.3 |
pathogenic |
NM_002775.5(HTRA1):c.523G>A (p.Val175Met) |
single nucleotide variant |
not provided [RCV001644604] |
Chr10:122488952 [GRCh38] Chr10:124248468 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.451C>T (p.Gln151Ter) |
single nucleotide variant |
not provided [RCV000487710] |
Chr10:122462103 [GRCh38] Chr10:124221619 [GRCh37] Chr10:10q26.13 |
likely pathogenic |
NM_002775.5(HTRA1):c.888C>G (p.Ile296Met) |
single nucleotide variant |
not provided [RCV000585556] |
Chr10:122506801 [GRCh38] Chr10:124266317 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.957C>T (p.Thr319=) |
single nucleotide variant |
HTRA1-related disorder [RCV004748785]|not provided [RCV000488019] |
Chr10:122506870 [GRCh38] Chr10:124266386 [GRCh37] Chr10:10q26.13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002775.5(HTRA1):c.-57C>A |
single nucleotide variant |
Macular degeneration [RCV000313936]|not provided [RCV004706758] |
Chr10:122461596 [GRCh38] Chr10:124221112 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.415T>G (p.Ser139Ala) |
single nucleotide variant |
not provided [RCV001851441]|not specified [RCV000517689] |
Chr10:122462067 [GRCh38] Chr10:124221583 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.59C>T (p.Ala20Val) |
single nucleotide variant |
CARASIL syndrome [RCV000576298]|Macular degeneration [RCV000259894]|not provided [RCV001511034]|not specified [RCV001795917] |
Chr10:122461711 [GRCh38] Chr10:124221227 [GRCh37] Chr10:10q26.13 |
benign|likely benign |
NM_002775.5(HTRA1):c.*217T>A |
single nucleotide variant |
Macular degeneration [RCV000391126] |
Chr10:122514576 [GRCh38] Chr10:124274092 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_001099667.3(ARMS2):c.298-14_298-13insG |
insertion |
Macular degeneration [RCV000271292] |
Chr10:122456893..122456894 [GRCh38] Chr10:124216409..124216410 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.77G>A (p.Arg26Gln) |
single nucleotide variant |
Macular degeneration [RCV000279664]|not provided [RCV000711026] |
Chr10:122461729 [GRCh38] Chr10:124221245 [GRCh37] Chr10:10q26.13 |
benign|likely benign |
NM_001099667.3(ARMS2):c.298-4del |
deletion |
Macular degeneration [RCV000287310] |
Chr10:122456895 [GRCh38] Chr10:124216411 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.267C>A (p.Cys89Ter) |
single nucleotide variant |
not provided [RCV000599520] |
Chr10:122461919 [GRCh38] Chr10:124221435 [GRCh37] Chr10:10q26.13 |
likely pathogenic |
GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)x3 |
copy number gain |
See cases [RCV000449169] |
Chr10:122125760..135062972 [GRCh37] Chr10:10q26.12-26.3 |
likely pathogenic |
GRCh37/hg19 10q26.13-26.3(chr10:124147428-135370736)x1 |
copy number loss |
See cases [RCV000449336] |
Chr10:124147428..135370736 [GRCh37] Chr10:10q26.13-26.3 |
pathogenic |
GRCh37/hg19 10q24.32-26.3(chr10:104633712-135427143)x3 |
copy number gain |
See cases [RCV000449386] |
Chr10:104633712..135427143 [GRCh37] Chr10:10q24.32-26.3 |
pathogenic |
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)x1 |
copy number loss |
See cases [RCV000446095] |
Chr10:122343861..135427143 [GRCh37] Chr10:10q26.12-26.3 |
pathogenic |
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 |
copy number gain |
See cases [RCV000446733] |
Chr10:100780957..135427143 [GRCh37] Chr10:10q24.2-26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 |
copy number gain |
See cases [RCV000448750] |
Chr10:93297..135378918 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) |
copy number gain |
See cases [RCV000511389] |
Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic|uncertain significance |
GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3 |
copy number gain |
See cases [RCV000510813] |
Chr10:106003533..135427143 [GRCh37] Chr10:10q25.1-26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 |
copy number gain |
See cases [RCV000510861] |
Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 |
copy number gain |
See cases [RCV000510972] |
Chr10:93283493..135427143 [GRCh37] Chr10:10q23.32-26.3 |
pathogenic |
NM_002775.5(HTRA1):c.543del (p.Ala182fs) |
deletion |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627025]|not provided [RCV001860484] |
Chr10:122488972 [GRCh38] Chr10:124248488 [GRCh37] Chr10:10q26.13 |
pathogenic |
NM_002775.5(HTRA1):c.767T>C (p.Ile256Thr) |
single nucleotide variant |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627026] |
Chr10:122489616 [GRCh38] Chr10:124249132 [GRCh37] Chr10:10q26.13 |
pathogenic |
NM_002775.5(HTRA1):c.971A>C (p.Asn324Thr) |
single nucleotide variant |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627029] |
Chr10:122506884 [GRCh38] Chr10:124266400 [GRCh37] Chr10:10q26.13 |
likely pathogenic |
NM_002775.5(HTRA1):c.359G>A (p.Gly120Asp) |
single nucleotide variant |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627023] |
Chr10:122462011 [GRCh38] Chr10:124221527 [GRCh37] Chr10:10q26.13 |
likely pathogenic |
NM_002775.5(HTRA1):c.646G>A (p.Val216Met) |
single nucleotide variant |
not provided [RCV003318105] |
Chr10:122489495 [GRCh38] Chr10:124249011 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.536T>A (p.Ile179Asn) |
single nucleotide variant |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627024] |
Chr10:122488965 [GRCh38] Chr10:124248481 [GRCh37] Chr10:10q26.13 |
likely pathogenic |
NM_002775.5(HTRA1):c.865C>T (p.Gln289Ter) |
single nucleotide variant |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627028]|not provided [RCV001860485] |
Chr10:122506778 [GRCh38] Chr10:124266294 [GRCh37] Chr10:10q26.13 |
pathogenic |
NM_002775.5(HTRA1):c.589C>T (p.Arg197Ter) |
single nucleotide variant |
CARASIL syndrome [RCV003989546]|not provided [RCV000512888] |
Chr10:122489438 [GRCh38] Chr10:124248954 [GRCh37] Chr10:10q26.13 |
pathogenic|likely pathogenic|uncertain significance |
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] |
Chr10:42347406..135534747 [GRCh37] Chr10:10q11.21-26.3 |
drug response |
NM_002775.5(HTRA1):c.573-8G>A |
single nucleotide variant |
not provided [RCV000513477] |
Chr10:122489414 [GRCh38] Chr10:124248930 [GRCh37] Chr10:10q26.13 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_002775.5(HTRA1):c.827G>C (p.Gly276Ala) |
single nucleotide variant |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627027] |
Chr10:122506740 [GRCh38] Chr10:124266256 [GRCh37] Chr10:10q26.13 |
likely pathogenic |
NM_002775.5(HTRA1):c.614C>G (p.Ser205Cys) |
single nucleotide variant |
CARASIL syndrome [RCV000678044] |
Chr10:122489463 [GRCh38] Chr10:124248979 [GRCh37] Chr10:10q26.13 |
pathogenic |
GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1 |
copy number loss |
not provided [RCV000683287] |
Chr10:122509781..135427143 [GRCh37] Chr10:10q26.12-26.3 |
pathogenic |
GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1 |
copy number loss |
not provided [RCV000683286] |
Chr10:123019239..135427143 [GRCh37] Chr10:10q26.12-26.3 |
pathogenic |
GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3 |
copy number gain |
not provided [RCV000683290] |
Chr10:105613040..135427143 [GRCh37] Chr10:10q24.33-26.3 |
pathogenic |
GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3 |
copy number gain |
not provided [RCV000683288] |
Chr10:121269222..135427143 [GRCh37] Chr10:10q26.11-26.3 |
pathogenic |
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 |
copy number gain |
not provided [RCV000683291] |
Chr10:94346520..135427143 [GRCh37] Chr10:10q23.33-26.3 |
pathogenic |
NM_002775.5(HTRA1):c.517G>T (p.Ala173Ser) |
single nucleotide variant |
not provided [RCV000711025]|not specified [RCV003235372] |
Chr10:122488946 [GRCh38] Chr10:124248462 [GRCh37] Chr10:10q26.13 |
uncertain significance |
GRCh37/hg19 10q26.12-26.3(chr10:122443197-135477883)x1 |
copy number loss |
not provided [RCV000737305] |
Chr10:122443197..135477883 [GRCh37] Chr10:10q26.12-26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 |
copy number gain |
not provided [RCV000749464] |
Chr10:73232..135524321 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 |
copy number gain |
not provided [RCV000749465] |
Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_002775.5(HTRA1):c.1005+169G>A |
single nucleotide variant |
not provided [RCV001724655] |
Chr10:122507571 [GRCh38] Chr10:124267087 [GRCh37] Chr10:10q26.13 |
benign |
NM_002775.5(HTRA1):c.1275-36C>T |
single nucleotide variant |
CARASIL syndrome [RCV001703045]|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001702227]|not provided [RCV001666773] |
Chr10:122514155 [GRCh38] Chr10:124273671 [GRCh37] Chr10:10q26.13 |
benign |
NM_002775.5(HTRA1):c.1120+254G>C |
single nucleotide variant |
not provided [RCV001709458] |
Chr10:122509024 [GRCh38] Chr10:124268540 [GRCh37] Chr10:10q26.13 |
benign |
NM_002775.5(HTRA1):c.31CTG[7] (p.Leu16dup) |
microsatellite |
not provided [RCV000991733] |
Chr10:122461681..122461682 [GRCh38] Chr10:124221197..124221198 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.884G>A (p.Gly295Glu) |
single nucleotide variant |
not provided [RCV000991734] |
Chr10:122506797 [GRCh38] Chr10:124266313 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.272dup (p.Pro92fs) |
duplication |
not provided [RCV003312179] |
Chr10:122461923..122461924 [GRCh38] Chr10:124221439..124221440 [GRCh37] Chr10:10q26.13 |
pathogenic |
NM_002775.5(HTRA1):c.1120+115C>G |
single nucleotide variant |
not provided [RCV001644305] |
Chr10:122508885 [GRCh38] Chr10:124268401 [GRCh37] Chr10:10q26.13 |
benign |
NM_002775.5(HTRA1):c.1350C>T (p.Asp450=) |
single nucleotide variant |
Macular degeneration [RCV001102842]|not provided [RCV000915305] |
Chr10:122514266 [GRCh38] Chr10:124273782 [GRCh37] Chr10:10q26.13 |
likely benign|uncertain significance |
NM_002775.5(HTRA1):c.465C>T (p.Cys155=) |
single nucleotide variant |
not provided [RCV000982558] |
Chr10:122462117 [GRCh38] Chr10:124221633 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.96T>G (p.Pro32=) |
single nucleotide variant |
not provided [RCV000902336] |
Chr10:122461748 [GRCh38] Chr10:124221264 [GRCh37] Chr10:10q26.13 |
likely benign |
GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806) |
copy number loss |
Distal 10q deletion syndrome [RCV000767564] |
Chr10:117024753..124942806 [GRCh37] Chr10:10q25.3-26.13 |
pathogenic |
GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095) |
copy number gain |
not provided [RCV000767665] |
Chr10:110022170..135439095 [GRCh37] Chr10:10q25.1-26.3 |
pathogenic |
NM_002775.5(HTRA1):c.337G>T (p.Ala113Ser) |
single nucleotide variant |
Macular degeneration [RCV001104660]|not provided [RCV000888759] |
Chr10:122461989 [GRCh38] Chr10:124221505 [GRCh37] Chr10:10q26.13 |
benign |
NM_002775.5(HTRA1):c.846C>T (p.Ile282=) |
single nucleotide variant |
not provided [RCV000921674] |
Chr10:122506759 [GRCh38] Chr10:124266275 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.1094C>T (p.Thr365Met) |
single nucleotide variant |
Macular degeneration [RCV001108056]|not provided [RCV000906260] |
Chr10:122508744 [GRCh38] Chr10:124268260 [GRCh37] Chr10:10q26.13 |
likely benign |
GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3 |
copy number gain |
not provided [RCV000847820] |
Chr10:114544537..135427143 [GRCh37] Chr10:10q25.2-26.3 |
pathogenic |
NM_002775.5(HTRA1):c.144G>T (p.Pro48=) |
single nucleotide variant |
not provided [RCV000981819] |
Chr10:122461796 [GRCh38] Chr10:124221312 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.180C>T (p.Asp60=) |
single nucleotide variant |
not provided [RCV000916279] |
Chr10:122461832 [GRCh38] Chr10:124221348 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.1416A>T (p.Thr472=) |
single nucleotide variant |
not provided [RCV000917208] |
Chr10:122514332 [GRCh38] Chr10:124273848 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.1341T>G (p.Asp447Glu) |
single nucleotide variant |
not specified [RCV004783294] |
Chr10:122514257 [GRCh38] Chr10:124273773 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.844A>C (p.Ile282Leu) |
single nucleotide variant |
Macular degeneration [RCV001108055] |
Chr10:122506757 [GRCh38] Chr10:124266273 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.1179-220del |
deletion |
not provided [RCV001695471] |
Chr10:122511750 [GRCh38] Chr10:124271266 [GRCh37] Chr10:10q26.13 |
benign |
NM_002775.5(HTRA1):c.1179-211del |
deletion |
not provided [RCV001648564] |
Chr10:122511759 [GRCh38] Chr10:124271275 [GRCh37] Chr10:10q26.13 |
benign |
NM_002775.5(HTRA1):c.777+93C>T |
single nucleotide variant |
not provided [RCV001682107] |
Chr10:122489719 [GRCh38] Chr10:124249235 [GRCh37] Chr10:10q26.13 |
benign |
NM_002775.5(HTRA1):c.473-176C>G |
single nucleotide variant |
not provided [RCV001674782] |
Chr10:122488726 [GRCh38] Chr10:124248242 [GRCh37] Chr10:10q26.13 |
benign |
NM_002775.5(HTRA1):c.973-7A>T |
single nucleotide variant |
not provided [RCV000918460] |
Chr10:122507363 [GRCh38] Chr10:124266879 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.351G>T (p.Pro117=) |
single nucleotide variant |
not provided [RCV000909847] |
Chr10:122462003 [GRCh38] Chr10:124221519 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.1065C>T (p.Ile355=) |
single nucleotide variant |
not provided [RCV000885790] |
Chr10:122508715 [GRCh38] Chr10:124268231 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.578C>T (p.Pro193Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004032113]|Macular degeneration [RCV001105822]|not provided [RCV002558058] |
Chr10:122489427 [GRCh38] Chr10:124248943 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.*460C>T |
single nucleotide variant |
Macular degeneration [RCV001102843] |
Chr10:122514819 [GRCh38] Chr10:124274335 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.34C>T (p.Leu12=) |
single nucleotide variant |
Macular degeneration [RCV001102736]|not provided [RCV001091418] |
Chr10:122461686 [GRCh38] Chr10:124221202 [GRCh37] Chr10:10q26.13 |
likely benign|uncertain significance |
NM_002775.5(HTRA1):c.1425C>T (p.Pro475=) |
single nucleotide variant |
not provided [RCV000933828] |
Chr10:122514341 [GRCh38] Chr10:124273857 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.323G>T (p.Gly108Val) |
single nucleotide variant |
not provided [RCV000994522] |
Chr10:122461975 [GRCh38] Chr10:124221491 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.1179-205_1179-204insTA |
insertion |
not provided [RCV001649275] |
Chr10:122511764..122511765 [GRCh38] Chr10:124271280..124271281 [GRCh37] Chr10:10q26.13 |
benign |
NM_002775.5(HTRA1):c.1348G>A (p.Asp450Asn) |
single nucleotide variant |
not provided [RCV001659010] |
Chr10:122514264 [GRCh38] Chr10:124273780 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.972+215G>A |
single nucleotide variant |
not provided [RCV001695545] |
Chr10:122507100 [GRCh38] Chr10:124266616 [GRCh37] Chr10:10q26.13 |
benign |
NM_002775.5(HTRA1):c.777+167G>A |
single nucleotide variant |
not provided [RCV001651610] |
Chr10:122489793 [GRCh38] Chr10:124249309 [GRCh37] Chr10:10q26.13 |
benign |
NM_002775.5(HTRA1):c.165C>A (p.Gly55=) |
single nucleotide variant |
not provided [RCV002073090]|not specified [RCV001663448] |
Chr10:122461817 [GRCh38] Chr10:124221333 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.1048G>A (p.Gly350Arg) |
single nucleotide variant |
not provided [RCV001663449] |
Chr10:122508698 [GRCh38] Chr10:124268214 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.972+99C>T |
single nucleotide variant |
not provided [RCV001617476] |
Chr10:122506984 [GRCh38] Chr10:124266500 [GRCh37] Chr10:10q26.13 |
benign |
GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3 |
copy number gain |
not provided [RCV001006356] |
Chr10:119996339..135427143 [GRCh37] Chr10:10q26.11-26.3 |
pathogenic |
NM_002775.5(HTRA1):c.133C>T (p.Arg45Cys) |
single nucleotide variant |
Macular degeneration [RCV001104658] |
Chr10:122461785 [GRCh38] Chr10:124221301 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.176G>C (p.Arg59Pro) |
single nucleotide variant |
Macular degeneration [RCV001104659]|not provided [RCV003130155] |
Chr10:122461828 [GRCh38] Chr10:124221344 [GRCh37] Chr10:10q26.13 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_002775.5(HTRA1):c.770A>C (p.Asp257Ala) |
single nucleotide variant |
Macular degeneration [RCV001105823] |
Chr10:122489619 [GRCh38] Chr10:124249135 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.847G>A (p.Gly283Arg) |
single nucleotide variant |
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] |
Chr10:122506760 [GRCh38] Chr10:124266276 [GRCh37] Chr10:10q26.13 |
pathogenic|likely pathogenic|uncertain significance |
NM_002775.5(HTRA1):c.1179-226_1179-225del |
deletion |
not provided [RCV001710690] |
Chr10:122511733..122511734 [GRCh38] Chr10:124271249..124271250 [GRCh37] Chr10:10q26.13 |
benign |
NM_002775.5(HTRA1):c.1005+74TTGT[2] |
microsatellite |
not provided [RCV001710741] |
Chr10:122507476..122507479 [GRCh38] Chr10:124266992..124266995 [GRCh37] Chr10:10q26.13 |
benign |
NM_002775.5(HTRA1):c.660C>G (p.His220Gln) |
single nucleotide variant |
CARASIL syndrome [RCV001090042]|not provided [RCV002554804] |
Chr10:122489509 [GRCh38] Chr10:124249025 [GRCh37] Chr10:10q26.13 |
likely pathogenic|uncertain significance |
NM_002775.5(HTRA1):c.1179-216_1179-204del |
microsatellite |
not provided [RCV001679528] |
Chr10:122511738..122511750 [GRCh38] Chr10:124271254..124271266 [GRCh37] Chr10:10q26.13 |
benign |
NM_002775.5(HTRA1):c.840C>A (p.Val280=) |
single nucleotide variant |
Macular degeneration [RCV001105826] |
Chr10:122506753 [GRCh38] Chr10:124266269 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.777+14C>T |
single nucleotide variant |
Macular degeneration [RCV001105824]|not provided [RCV002558059] |
Chr10:122489640 [GRCh38] Chr10:124249156 [GRCh37] Chr10:10q26.13 |
benign|uncertain significance |
NM_002775.5(HTRA1):c.834C>T (p.Phe278=) |
single nucleotide variant |
Macular degeneration [RCV001105825]|not provided [RCV002067784] |
Chr10:122506747 [GRCh38] Chr10:124266263 [GRCh37] Chr10:10q26.13 |
benign|likely benign |
NM_002775.5(HTRA1):c.12G>T (p.Pro4=) |
single nucleotide variant |
Macular degeneration [RCV001102735]|not provided [RCV001815498] |
Chr10:122461664 [GRCh38] Chr10:124221180 [GRCh37] Chr10:10q26.13 |
likely benign|uncertain significance |
NM_002775.5(HTRA1):c.10C>T (p.Pro4Ser) |
single nucleotide variant |
Macular degeneration [RCV001102734] |
Chr10:122461662 [GRCh38] Chr10:124221178 [GRCh37] Chr10:10q26.13 |
uncertain significance |
GRCh37/hg19 10q26.13(chr10:123232922-124638514)x3 |
copy number gain |
not provided [RCV001006357] |
Chr10:123232922..124638514 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.1333G>A (p.Ala445Thr) |
single nucleotide variant |
CARASIL syndrome [RCV001328991]|HTRA1-related disorder [RCV003393841]|Inborn genetic diseases [RCV002555000]|Macular degeneration [RCV001102841]|not provided [RCV001726430] |
Chr10:122514249 [GRCh38] Chr10:124273765 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.451C>A (p.Gln151Lys) |
single nucleotide variant |
HTRA1-related disorder [RCV004749604]|Macular degeneration [RCV001104661]|not provided [RCV001091419] |
Chr10:122462103 [GRCh38] Chr10:124221619 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.138C>A (p.Cys46Ter) |
single nucleotide variant |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001253237] |
Chr10:122461790 [GRCh38] Chr10:124221306 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.1274C>T (p.Ala425Val) |
single nucleotide variant |
CARASIL syndrome [RCV001802756] |
Chr10:122512065 [GRCh38] Chr10:124271581 [GRCh37] Chr10:10q26.13 |
pathogenic |
NM_002775.5(HTRA1):c.835G>A (p.Val279Met) |
single nucleotide variant |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001255607]|not provided [RCV001726471] |
Chr10:122506748 [GRCh38] Chr10:124266264 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.443T>A (p.Ile148Asn) |
single nucleotide variant |
not specified [RCV004782196] |
Chr10:122462095 [GRCh38] Chr10:124221611 [GRCh37] Chr10:10q26.13 |
uncertain significance |
GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3 |
copy number gain |
not provided [RCV001537903] |
Chr10:118247181..135435319 [GRCh37] Chr10:10q25.3-26.3 |
pathogenic |
NM_002775.5(HTRA1):c.529_531del (p.Glu177del) |
deletion |
not provided [RCV001288907] |
Chr10:122488957..122488959 [GRCh38] Chr10:124248473..124248475 [GRCh37] Chr10:10q26.13 |
uncertain significance |
Single allele |
deletion |
not provided [RCV001391678] |
Chr10:119302758..124813305 [GRCh37] Chr10:10q26.11-26.13 |
likely pathogenic |
NM_002775.5(HTRA1):c.1394_1395del (p.Gly465fs) |
deletion |
not provided [RCV001310580] |
Chr10:122514310..122514311 [GRCh38] Chr10:124273826..124273827 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.820C>G (p.Arg274Gly) |
single nucleotide variant |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001542097] |
Chr10:122506733 [GRCh38] Chr10:124266249 [GRCh37] Chr10:10q26.13 |
likely pathogenic |
NM_002775.5(HTRA1):c.1178+18G>A |
single nucleotide variant |
not provided [RCV001509661] |
Chr10:122510171 [GRCh38] Chr10:124269687 [GRCh37] Chr10:10q26.13 |
benign |
NM_002775.5(HTRA1):c.778-20G>A |
single nucleotide variant |
not provided [RCV001516140] |
Chr10:122506671 [GRCh38] Chr10:124266187 [GRCh37] Chr10:10q26.13 |
benign |
NM_002775.5(HTRA1):c.983C>T (p.Ser328Leu) |
single nucleotide variant |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001724734] |
Chr10:122507380 [GRCh38] Chr10:124266896 [GRCh37] Chr10:10q26.13 |
uncertain significance |
GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1 |
copy number loss |
See cases [RCV001526488] |
Chr10:122785023..135457222 [GRCh37] Chr10:10q26.12-26.3 |
pathogenic |
NM_002775.5(HTRA1):c.518C>T (p.Ala173Val) |
single nucleotide variant |
not provided [RCV001726829] |
Chr10:122488947 [GRCh38] Chr10:124248463 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.703G>A (p.Gly235Ser) |
single nucleotide variant |
See cases [RCV002252487] |
Chr10:122489552 [GRCh38] Chr10:124249068 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.893G>A (p.Ser298Asn) |
single nucleotide variant |
not provided [RCV001752686] |
Chr10:122506806 [GRCh38] Chr10:124266322 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.496C>T (p.Arg166Cys) |
single nucleotide variant |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001785356]|not provided [RCV002291765] |
Chr10:122488925 [GRCh38] Chr10:124248441 [GRCh37] Chr10:10q26.13 |
pathogenic|likely pathogenic |
NM_002775.5(HTRA1):c.1423C>G (p.Pro475Ala) |
single nucleotide variant |
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy [RCV003994335]|not provided [RCV001816094] |
Chr10:122514339 [GRCh38] Chr10:124273855 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.590G>A (p.Arg197Gln) |
single nucleotide variant |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001808278] |
Chr10:122489439 [GRCh38] Chr10:124248955 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.905G>A (p.Arg302Gln) |
single nucleotide variant |
CARASIL syndrome [RCV001806399]|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001810331]|not provided [RCV002542419] |
Chr10:122506818 [GRCh38] Chr10:124266334 [GRCh37] Chr10:10q26.13 |
pathogenic|likely pathogenic |
NM_002775.5(HTRA1):c.599C>T (p.Pro200Leu) |
single nucleotide variant |
CARASIL syndrome [RCV004813202]|not provided [RCV002009316] |
Chr10:122489448 [GRCh38] Chr10:124248964 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.434C>A (p.Pro145Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002562793]|not provided [RCV001950641] |
Chr10:122462086 [GRCh38] Chr10:124221602 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.400G>A (p.Ala134Thr) |
single nucleotide variant |
not provided [RCV002044135] |
Chr10:122462052 [GRCh38] Chr10:124221568 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.1201C>T (p.Arg401Trp) |
single nucleotide variant |
not provided [RCV001874401] |
Chr10:122511992 [GRCh38] Chr10:124271508 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.124G>A (p.Glu42Lys) |
single nucleotide variant |
not provided [RCV002040855] |
Chr10:122461776 [GRCh38] Chr10:124221292 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.1130T>A (p.Ile377Asn) |
single nucleotide variant |
not provided [RCV001864208] |
Chr10:122510105 [GRCh38] Chr10:124269621 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.530AGA[1] (p.Lys178del) |
microsatellite |
not provided [RCV001929512] |
Chr10:122488959..122488961 [GRCh38] Chr10:124248475..124248477 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.743A>C (p.Lys248Thr) |
single nucleotide variant |
not provided [RCV001914277] |
Chr10:122489592 [GRCh38] Chr10:124249108 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.1172C>T (p.Thr391Met) |
single nucleotide variant |
not provided [RCV001947710] |
Chr10:122510147 [GRCh38] Chr10:124269663 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.743A>G (p.Lys248Arg) |
single nucleotide variant |
not provided [RCV001927378] |
Chr10:122489592 [GRCh38] Chr10:124249108 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.278_280delinsCC (p.Phe93fs) |
indel |
not provided [RCV001837115] |
Chr10:122461930..122461932 [GRCh38] Chr10:124221446..124221448 [GRCh37] Chr10:10q26.13 |
likely pathogenic |
NM_002775.5(HTRA1):c.152A>G (p.Glu51Gly) |
single nucleotide variant |
not provided [RCV001983733] |
Chr10:122461804 [GRCh38] Chr10:124221320 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.679C>T (p.Arg227Trp) |
single nucleotide variant |
HTRA1-related disorder [RCV004749761]|not provided [RCV001891991] |
Chr10:122489528 [GRCh38] Chr10:124249044 [GRCh37] Chr10:10q26.13 |
uncertain significance |
GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066) |
copy number loss |
not specified [RCV002052892] |
Chr10:117019650..125217066 [GRCh37] Chr10:10q25.3-26.13 |
pathogenic |
GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972) |
copy number gain |
not specified [RCV002052894] |
Chr10:122125760..135062972 [GRCh37] Chr10:10q26.12-26.3 |
likely pathogenic |
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143) |
copy number loss |
not specified [RCV002052895] |
Chr10:122343861..135427143 [GRCh37] Chr10:10q26.12-26.3 |
pathogenic |
NM_002775.5(HTRA1):c.1275-3C>T |
single nucleotide variant |
HTRA1-related disorder [RCV004749832]|not provided [RCV002020946] |
Chr10:122514188 [GRCh38] Chr10:124273704 [GRCh37] Chr10:10q26.13 |
likely benign|uncertain significance |
GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143) |
copy number gain |
not specified [RCV002052891] |
Chr10:108455687..135427143 [GRCh37] Chr10:10q25.1-26.3 |
pathogenic |
NM_002775.5(HTRA1):c.1414A>T (p.Thr472Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002553628]|not provided [RCV001911270] |
Chr10:122514330 [GRCh38] Chr10:124273846 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.127C>T (p.Pro43Ser) |
single nucleotide variant |
not provided [RCV002027117] |
Chr10:122461779 [GRCh38] Chr10:124221295 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.728A>G (p.Lys243Arg) |
single nucleotide variant |
not provided [RCV001996345] |
Chr10:122489577 [GRCh38] Chr10:124249093 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.820C>T (p.Arg274Trp) |
single nucleotide variant |
CARASIL syndrome [RCV002479734]|Inborn genetic diseases [RCV002642139]|not provided [RCV002017499] |
Chr10:122506733 [GRCh38] Chr10:124266249 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.1249G>A (p.Val417Ile) |
single nucleotide variant |
not provided [RCV001898139] |
Chr10:122512040 [GRCh38] Chr10:124271556 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.466G>C (p.Gly156Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004042412]|not provided [RCV001991284] |
Chr10:122462118 [GRCh38] Chr10:124221634 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.972C>T (p.Asn324=) |
single nucleotide variant |
not provided [RCV001979469] |
Chr10:122506885 [GRCh38] Chr10:124266401 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.370A>G (p.Asn124Asp) |
single nucleotide variant |
not provided [RCV001930622] |
Chr10:122462022 [GRCh38] Chr10:124221538 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.491G>A (p.Ser164Asn) |
single nucleotide variant |
not provided [RCV001960391] |
Chr10:122488920 [GRCh38] Chr10:124248436 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.547G>A (p.Val183Met) |
single nucleotide variant |
not provided [RCV001905962] |
Chr10:122488976 [GRCh38] Chr10:124248492 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.710C>T (p.Thr237Ile) |
single nucleotide variant |
not provided [RCV001915947] |
Chr10:122489559 [GRCh38] Chr10:124249075 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NC_000010.10:g.(?_124221169)_(124221660_?)del |
deletion |
not provided [RCV001951302] |
Chr10:124221169..124221660 [GRCh37] Chr10:10q26.13 |
pathogenic |
NM_002775.5(HTRA1):c.1136A>G (p.Lys379Arg) |
single nucleotide variant |
not provided [RCV002016017] |
Chr10:122510111 [GRCh38] Chr10:124269627 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.1086G>T (p.Lys362Asn) |
single nucleotide variant |
not provided [RCV001901360] |
Chr10:122508736 [GRCh38] Chr10:124268252 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.579G>A (p.Pro193=) |
single nucleotide variant |
not provided [RCV002166913] |
Chr10:122489428 [GRCh38] Chr10:124248944 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.1121-13G>A |
single nucleotide variant |
not provided [RCV002107094] |
Chr10:122510083 [GRCh38] Chr10:124269599 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.603G>A (p.Val201=) |
single nucleotide variant |
not provided [RCV002111006] |
Chr10:122489452 [GRCh38] Chr10:124248968 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.778-16G>A |
single nucleotide variant |
not provided [RCV002109353] |
Chr10:122506675 [GRCh38] Chr10:124266191 [GRCh37] Chr10:10q26.13 |
benign |
NM_002775.5(HTRA1):c.15C>G (p.Arg5=) |
single nucleotide variant |
not provided [RCV002085140] |
Chr10:122461667 [GRCh38] Chr10:124221183 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.996A>G (p.Leu332=) |
single nucleotide variant |
not provided [RCV002113405] |
Chr10:122507393 [GRCh38] Chr10:124266909 [GRCh37] Chr10:10q26.13 |
benign |
NM_002775.5(HTRA1):c.1314T>C (p.Asn438=) |
single nucleotide variant |
not provided [RCV002171479] |
Chr10:122514230 [GRCh38] Chr10:124273746 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.1006-20G>A |
single nucleotide variant |
not provided [RCV002115744] |
Chr10:122508636 [GRCh38] Chr10:124268152 [GRCh37] Chr10:10q26.13 |
benign |
NM_002775.5(HTRA1):c.1389C>T (p.Arg463=) |
single nucleotide variant |
not provided [RCV002197376] |
Chr10:122514305 [GRCh38] Chr10:124273821 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.1008C>T (p.Asp336=) |
single nucleotide variant |
not provided [RCV002088425] |
Chr10:122508658 [GRCh38] Chr10:124268174 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.973-6T>C |
single nucleotide variant |
not provided [RCV002174180] |
Chr10:122507364 [GRCh38] Chr10:124266880 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.1173G>A (p.Thr391=) |
single nucleotide variant |
not provided [RCV002196847] |
Chr10:122510148 [GRCh38] Chr10:124269664 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.1095G>C (p.Thr365=) |
single nucleotide variant |
not provided [RCV002218475] |
Chr10:122508745 [GRCh38] Chr10:124268261 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.672C>T (p.Asn224=) |
single nucleotide variant |
not provided [RCV002140040] |
Chr10:122489521 [GRCh38] Chr10:124249037 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.1296C>T (p.Asp432=) |
single nucleotide variant |
not provided [RCV002218019] |
Chr10:122514212 [GRCh38] Chr10:124273728 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.1323C>T (p.Ser441=) |
single nucleotide variant |
not provided [RCV002123413] |
Chr10:122514239 [GRCh38] Chr10:124273755 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.1413C>T (p.Ile471=) |
single nucleotide variant |
not provided [RCV002158926] |
Chr10:122514329 [GRCh38] Chr10:124273845 [GRCh37] Chr10:10q26.13 |
likely benign |
NC_000010.10:g.(?_124248398)_(124249162_?)del |
deletion |
not provided [RCV003113120] |
Chr10:124248398..124249162 [GRCh37] Chr10:10q26.13 |
pathogenic |
NC_000010.10:g.(?_124214244)_(124273875_?)dup |
duplication |
not provided [RCV003113121] |
Chr10:124214244..124273875 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NC_000010.10:g.(?_123239371)_(124813281_?)del |
deletion |
FGFR2-related craniosynostosis [RCV003119408] |
Chr10:123239371..124813281 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.283G>T (p.Val95Leu) |
single nucleotide variant |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV002227771] |
Chr10:122461935 [GRCh38] Chr10:124221451 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.972+1G>C |
single nucleotide variant |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV002251114] |
Chr10:122506886 [GRCh38] Chr10:124266402 [GRCh37] Chr10:10q26.13 |
likely pathogenic |
NM_002775.5(HTRA1):c.205G>C (p.Gly69Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003274364]|not provided [RCV003237031] |
Chr10:122461857 [GRCh38] Chr10:124221373 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.126G>A (p.Glu42=) |
single nucleotide variant |
not provided [RCV002262292] |
Chr10:122461778 [GRCh38] Chr10:124221294 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.92C>T (p.Ala31Val) |
single nucleotide variant |
not provided [RCV002276362] |
Chr10:122461744 [GRCh38] Chr10:124221260 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.857T>C (p.Phe286Ser) |
single nucleotide variant |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV002289037] |
Chr10:122506770 [GRCh38] Chr10:124266286 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.671del (p.Asn224fs) |
deletion |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV002290310] |
Chr10:122489519 [GRCh38] Chr10:124249035 [GRCh37] Chr10:10q26.13 |
likely pathogenic |
NM_002775.5(HTRA1):c.958G>A (p.Asp320Asn) |
single nucleotide variant |
Age related macular degeneration 7 [RCV002282856]|HTRA1-related disorder [RCV003943344]|not provided [RCV003325599] |
Chr10:122506871 [GRCh38] Chr10:124266387 [GRCh37] Chr10:10q26.13 |
pathogenic|uncertain significance |
GRCh37/hg19 10q26.13(chr10:124252660-125447562)x1 |
copy number loss |
not provided [RCV002472737] |
Chr10:124252660..125447562 [GRCh37] Chr10:10q26.13 |
uncertain significance |
GRCh37/hg19 10q26.13(chr10:123964214-124477580)x3 |
copy number gain |
not provided [RCV002474795] |
Chr10:123964214..124477580 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.940A>G (p.Met314Val) |
single nucleotide variant |
not provided [RCV002474270] |
Chr10:122506853 [GRCh38] Chr10:124266369 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.175_178del (p.Arg59fs) |
deletion |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV002463470] |
Chr10:122461827..122461830 [GRCh38] Chr10:124221343..124221346 [GRCh37] Chr10:10q26.13 |
pathogenic |
NM_002775.5(HTRA1):c.417C>G (p.Ser139=) |
single nucleotide variant |
not provided [RCV002974874] |
Chr10:122462069 [GRCh38] Chr10:124221585 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.523G>C (p.Val175Leu) |
single nucleotide variant |
not provided [RCV002618901] |
Chr10:122488952 [GRCh38] Chr10:124248468 [GRCh37] Chr10:10q26.13 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_002775.5(HTRA1):c.1420A>G (p.Ile474Val) |
single nucleotide variant |
not provided [RCV002618028] |
Chr10:122514336 [GRCh38] Chr10:124273852 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.1379T>C (p.Met460Thr) |
single nucleotide variant |
not provided [RCV002882292] |
Chr10:122514295 [GRCh38] Chr10:124273811 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.1158A>C (p.Arg386=) |
single nucleotide variant |
not provided [RCV003016218] |
Chr10:122510133 [GRCh38] Chr10:124269649 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.497G>A (p.Arg166His) |
single nucleotide variant |
not provided [RCV002593107] |
Chr10:122488926 [GRCh38] Chr10:124248442 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.148C>G (p.Pro50Ala) |
single nucleotide variant |
not provided [RCV002923064] |
Chr10:122461800 [GRCh38] Chr10:124221316 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.504A>G (p.Lys168=) |
single nucleotide variant |
not provided [RCV002923894] |
Chr10:122488933 [GRCh38] Chr10:124248449 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.540C>T (p.Ala180=) |
single nucleotide variant |
not provided [RCV002591134] |
Chr10:122488969 [GRCh38] Chr10:124248485 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.1011T>C (p.Gly337=) |
single nucleotide variant |
not provided [RCV002953298] |
Chr10:122508661 [GRCh38] Chr10:124268177 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.702C>T (p.Asn234=) |
single nucleotide variant |
not provided [RCV002592886] |
Chr10:122489551 [GRCh38] Chr10:124249067 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.879C>A (p.Thr293=) |
single nucleotide variant |
not provided [RCV002622095] |
Chr10:122506792 [GRCh38] Chr10:124266308 [GRCh37] Chr10:10q26.13 |
likely benign|conflicting interpretations of pathogenicity |
NM_002775.5(HTRA1):c.1282C>G (p.Leu428Val) |
single nucleotide variant |
not provided [RCV002870791] |
Chr10:122514198 [GRCh38] Chr10:124273714 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.472+2T>C |
single nucleotide variant |
not provided [RCV002736282] |
Chr10:122462126 [GRCh38] Chr10:124221642 [GRCh37] Chr10:10q26.13 |
likely pathogenic |
NM_002775.5(HTRA1):c.1388G>A (p.Arg463His) |
single nucleotide variant |
not provided [RCV002570924] |
Chr10:122514304 [GRCh38] Chr10:124273820 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.187G>T (p.Gly63Cys) |
single nucleotide variant |
not provided [RCV002700692] |
Chr10:122461839 [GRCh38] Chr10:124221355 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.184_185del (p.Cys62fs) |
deletion |
HTRA1-related autosomal dominant cerebral small vessel disease [RCV003324043]|not provided [RCV002701276] |
Chr10:122461835..122461836 [GRCh38] Chr10:124221351..124221352 [GRCh37] Chr10:10q26.13 |
pathogenic |
NM_002775.5(HTRA1):c.1208G>A (p.Arg403Gln) |
single nucleotide variant |
not provided [RCV002596520] |
Chr10:122511999 [GRCh38] Chr10:124271515 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.972+1G>A |
single nucleotide variant |
Age related macular degeneration 7 [RCV004066843]|not provided [RCV002667870] |
Chr10:122506886 [GRCh38] Chr10:124266402 [GRCh37] Chr10:10q26.13 |
pathogenic|likely pathogenic |
NM_002775.5(HTRA1):c.624T>C (p.Ile208=) |
single nucleotide variant |
not provided [RCV002917781] |
Chr10:122489473 [GRCh38] Chr10:124248989 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.778-7G>A |
single nucleotide variant |
not provided [RCV002957350] |
Chr10:122506684 [GRCh38] Chr10:124266200 [GRCh37] Chr10:10q26.13 |
likely benign|uncertain significance |
NM_002775.5(HTRA1):c.777+17C>T |
single nucleotide variant |
not provided [RCV002575544] |
Chr10:122489643 [GRCh38] Chr10:124249159 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.809C>T (p.Ser270Phe) |
single nucleotide variant |
not provided [RCV002711807] |
Chr10:122506722 [GRCh38] Chr10:124266238 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.246G>C (p.Pro82=) |
single nucleotide variant |
not provided [RCV002602262] |
Chr10:122461898 [GRCh38] Chr10:124221414 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.782A>G (p.Lys261Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004632096]|not provided [RCV002937343] |
Chr10:122506695 [GRCh38] Chr10:124266211 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.470A>G (p.Gln157Arg) |
single nucleotide variant |
not provided [RCV002770652] |
Chr10:122462122 [GRCh38] Chr10:124221638 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.1230A>C (p.Ser410=) |
single nucleotide variant |
not provided [RCV003026711] |
Chr10:122512021 [GRCh38] Chr10:124271537 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.777+6G>A |
single nucleotide variant |
not provided [RCV002726160] |
Chr10:122489632 [GRCh38] Chr10:124249148 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.973-20T>A |
single nucleotide variant |
not provided [RCV002658463] |
Chr10:122507350 [GRCh38] Chr10:124266866 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.1275-9G>A |
single nucleotide variant |
not provided [RCV002589409] |
Chr10:122514182 [GRCh38] Chr10:124273698 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.1178+12G>A |
single nucleotide variant |
not provided [RCV002653703] |
Chr10:122510165 [GRCh38] Chr10:124269681 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.992C>T (p.Pro331Leu) |
single nucleotide variant |
not provided [RCV002586310] |
Chr10:122507389 [GRCh38] Chr10:124266905 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.1351G>A (p.Val451Ile) |
single nucleotide variant |
not provided [RCV003072302] |
Chr10:122514267 [GRCh38] Chr10:124273783 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.1387C>T (p.Arg463Cys) |
single nucleotide variant |
not provided [RCV002612226] |
Chr10:122514303 [GRCh38] Chr10:124273819 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.775C>G (p.Gln259Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003217609] |
Chr10:122489624 [GRCh38] Chr10:124249140 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.20C>G (p.Ala7Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003210527]|not provided [RCV003482457] |
Chr10:122461672 [GRCh38] Chr10:124221188 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.1195A>C (p.Lys399Gln) |
single nucleotide variant |
not provided [RCV003225300] |
Chr10:122511986 [GRCh38] Chr10:124271502 [GRCh37] Chr10:10q26.13 |
uncertain significance |
GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1 |
copy number loss |
not provided [RCV003222684] |
Chr10:122610933..135439810 [GRCh37] Chr10:10q26.12-26.3 |
pathogenic |
NM_002775.5(HTRA1):c.1348G>C (p.Asp450His) |
single nucleotide variant |
not provided [RCV003135693] |
Chr10:122514264 [GRCh38] Chr10:124273780 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.989G>A (p.Gly330Asp) |
single nucleotide variant |
not provided [RCV003135694] |
Chr10:122507386 [GRCh38] Chr10:124266902 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.430C>T (p.Arg144Trp) |
single nucleotide variant |
not provided [RCV003135695] |
Chr10:122462082 [GRCh38] Chr10:124221598 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.1408A>G (p.Met470Val) |
single nucleotide variant |
not provided [RCV003135696] |
Chr10:122514324 [GRCh38] Chr10:124273840 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.398G>A (p.Arg133His) |
single nucleotide variant |
Inborn genetic diseases [RCV003200682] |
Chr10:122462050 [GRCh38] Chr10:124221566 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.809C>A (p.Ser270Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003219324] |
Chr10:122506722 [GRCh38] Chr10:124266238 [GRCh37] Chr10:10q26.13 |
uncertain significance |
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) |
copy number gain |
Distal trisomy 10q [RCV003319593] |
Chr10:11138692..135427143 [GRCh37] Chr10:10p14-q26.3 |
pathogenic |
GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143) |
copy number loss |
Distal 10q deletion syndrome [RCV003319590] |
Chr10:123477898..135427143 [GRCh37] Chr10:10q26.13-26.3 |
pathogenic |
NM_002775.5(HTRA1):c.74C>T (p.Ser25Phe) |
single nucleotide variant |
not provided [RCV003325775] |
Chr10:122461726 [GRCh38] Chr10:124221242 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.84C>A (p.Gly28=) |
single nucleotide variant |
not provided [RCV003394545] |
Chr10:122461736 [GRCh38] Chr10:124221252 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.8T>A (p.Ile3Asn) |
single nucleotide variant |
not provided [RCV003482646] |
Chr10:122461660 [GRCh38] Chr10:124221176 [GRCh37] Chr10:10q26.13 |
uncertain significance |
GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3 |
copy number gain |
not provided [RCV003484817] |
Chr10:111447991..133435388 [GRCh37] Chr10:10q25.1-26.3 |
pathogenic |
NC_000010.11:g.122458640del |
deletion |
not provided [RCV001726828] |
Chr10:122458640 [GRCh38] Chr10:124218156 [GRCh37] Chr10:10q26.13 |
uncertain significance |
GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3 |
copy number gain |
Distal trisomy 10q [RCV003458955] |
Chr10:111378692..135427143 [GRCh37] Chr10:10q25.1-26.3 |
pathogenic |
NM_002775.5(HTRA1):c.691G>A (p.Glu231Lys) |
single nucleotide variant |
HTRA1-related disorder [RCV003429079] |
Chr10:122489540 [GRCh38] Chr10:124249056 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.806G>A (p.Arg269His) |
single nucleotide variant |
not provided [RCV003394548] |
Chr10:122506719 [GRCh38] Chr10:124266235 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.112C>G (p.Pro38Ala) |
single nucleotide variant |
not provided [RCV003394546] |
Chr10:122461764 [GRCh38] Chr10:124221280 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.338C>T (p.Ala113Val) |
single nucleotide variant |
not provided [RCV003394547] |
Chr10:122461990 [GRCh38] Chr10:124221506 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.539C>T (p.Ala180Val) |
single nucleotide variant |
HTRA1-related disorder [RCV003412283] |
Chr10:122488968 [GRCh38] Chr10:124248484 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.1127C>T (p.Ala376Val) |
single nucleotide variant |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV003444467] |
Chr10:122510102 [GRCh38] Chr10:124269618 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NC_000010.10:g.(?_124221068)_(124274424_?)dup |
duplication |
not specified [RCV003489644] |
Chr10:124221068..124274424 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.910G>C (p.Gly304Arg) |
single nucleotide variant |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV003494559] |
Chr10:122506823 [GRCh38] Chr10:124266339 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.610G>A (p.Gly204Arg) |
single nucleotide variant |
not provided [RCV003693306] |
Chr10:122489459 [GRCh38] Chr10:124248975 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.838G>A (p.Val280Ile) |
single nucleotide variant |
not provided [RCV003882276] |
Chr10:122506751 [GRCh38] Chr10:124266267 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.1210G>A (p.Asp404Asn) |
single nucleotide variant |
not provided [RCV003827920] |
Chr10:122512001 [GRCh38] Chr10:124271517 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.9C>A (p.Ile3=) |
single nucleotide variant |
not provided [RCV003661551] |
Chr10:122461661 [GRCh38] Chr10:124221177 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.842_847dup (p.Ile282_Gly283insAlaIle) |
duplication |
not provided [RCV003574068] |
Chr10:122506751..122506752 [GRCh38] Chr10:124266267..124266268 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.1254T>C (p.Ile418=) |
single nucleotide variant |
not provided [RCV003694724] |
Chr10:122512045 [GRCh38] Chr10:124271561 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.572+20T>C |
single nucleotide variant |
not provided [RCV003827953] |
Chr10:122489021 [GRCh38] Chr10:124248537 [GRCh37] Chr10:10q26.13 |
benign |
NM_002775.5(HTRA1):c.70C>T (p.Leu24=) |
single nucleotide variant |
not provided [RCV003580538] |
Chr10:122461722 [GRCh38] Chr10:124221238 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.300G>A (p.Thr100=) |
single nucleotide variant |
not provided [RCV003849386] |
Chr10:122461952 [GRCh38] Chr10:124221468 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.150G>A (p.Pro50=) |
single nucleotide variant |
not provided [RCV003849453] |
Chr10:122461802 [GRCh38] Chr10:124221318 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.970A>G (p.Asn324Asp) |
single nucleotide variant |
not provided [RCV003835491] |
Chr10:122506883 [GRCh38] Chr10:124266399 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.632A>C (p.Glu211Ala) |
single nucleotide variant |
not provided [RCV003837785] |
Chr10:122489481 [GRCh38] Chr10:124248997 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.778-15C>T |
single nucleotide variant |
not provided [RCV003669845] |
Chr10:122506676 [GRCh38] Chr10:124266192 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.1207C>T (p.Arg403Trp) |
single nucleotide variant |
not provided [RCV003548205] |
Chr10:122511998 [GRCh38] Chr10:124271514 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.327C>G (p.Leu109=) |
single nucleotide variant |
not provided [RCV003669855] |
Chr10:122461979 [GRCh38] Chr10:124221495 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.263A>T (p.Gln88Leu) |
single nucleotide variant |
not provided [RCV003700957] |
Chr10:122461915 [GRCh38] Chr10:124221431 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.1178+17C>T |
single nucleotide variant |
not provided [RCV003833309] |
Chr10:122510170 [GRCh38] Chr10:124269686 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.34delinsTCCT (p.Leu11_Leu12insSer) |
indel |
HTRA1-related disorder [RCV004750403]|not provided [RCV003668633] |
Chr10:122461686 [GRCh38] Chr10:124221202 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.909C>T (p.Gly303=) |
single nucleotide variant |
HTRA1-related disorder [RCV003946718]|not provided [RCV003559389] |
Chr10:122506822 [GRCh38] Chr10:124266338 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.73T>C (p.Ser25Pro) |
single nucleotide variant |
not provided [RCV003846035] |
Chr10:122461725 [GRCh38] Chr10:124221241 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.645C>T (p.Ile215=) |
single nucleotide variant |
not provided [RCV003841328] |
Chr10:122489494 [GRCh38] Chr10:124249010 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.92C>A (p.Ala31Glu) |
single nucleotide variant |
not provided [RCV003682975] |
Chr10:122461744 [GRCh38] Chr10:124221260 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.1120+5G>A |
single nucleotide variant |
not provided [RCV003844440] |
Chr10:122508775 [GRCh38] Chr10:124268291 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.1179-16T>G |
single nucleotide variant |
not provided [RCV003563962] |
Chr10:122511954 [GRCh38] Chr10:124271470 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.756A>G (p.Ala252=) |
single nucleotide variant |
not provided [RCV003681671] |
Chr10:122489605 [GRCh38] Chr10:124249121 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.859T>C (p.Ser287Pro) |
single nucleotide variant |
not provided [RCV003550795] |
Chr10:122506772 [GRCh38] Chr10:124266288 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.569G>A (p.Arg190His) |
single nucleotide variant |
not provided [RCV003564627] |
Chr10:122488998 [GRCh38] Chr10:124248514 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.1134C>T (p.Thr378=) |
single nucleotide variant |
not provided [RCV003868587] |
Chr10:122510109 [GRCh38] Chr10:124269625 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.1174T>C (p.Ser392Pro) |
single nucleotide variant |
not provided [RCV003705122] |
Chr10:122510149 [GRCh38] Chr10:124269665 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.437C>G (p.Pro146Arg) |
single nucleotide variant |
not provided [RCV003554383] |
Chr10:122462089 [GRCh38] Chr10:124221605 [GRCh37] Chr10:10q26.13 |
uncertain significance |
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 |
copy number gain |
not specified [RCV003986893] |
Chr10:95078198..135427143 [GRCh37] Chr10:10q23.33-26.3 |
pathogenic |
NM_002775.5(HTRA1):c.473-13C>A |
single nucleotide variant |
not provided [RCV003843926] |
Chr10:122488889 [GRCh38] Chr10:124248405 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.572+12C>T |
single nucleotide variant |
not provided [RCV003846251] |
Chr10:122489013 [GRCh38] Chr10:124248529 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.1152T>C (p.Gly384=) |
single nucleotide variant |
not provided [RCV003823127] |
Chr10:122510127 [GRCh38] Chr10:124269643 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.1086G>A (p.Lys362=) |
single nucleotide variant |
not provided [RCV003853264] |
Chr10:122508736 [GRCh38] Chr10:124268252 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.1347C>T (p.Ser449=) |
single nucleotide variant |
not provided [RCV003733587] |
Chr10:122514263 [GRCh38] Chr10:124273779 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.161A>C (p.Glu54Ala) |
single nucleotide variant |
not provided [RCV003731360] |
Chr10:122461813 [GRCh38] Chr10:124221329 [GRCh37] Chr10:10q26.13 |
uncertain significance |
GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1 |
copy number loss |
not provided [RCV004442821] |
Chr10:122331280..135426386 [GRCh37] Chr10:10q26.12-26.3 |
pathogenic |
NM_002775.5(HTRA1):c.1275-7G>A |
single nucleotide variant |
HTRA1-related disorder [RCV003962287] |
Chr10:122514184 [GRCh38] Chr10:124273700 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.1156C>T (p.Arg386Ter) |
single nucleotide variant |
CARASIL syndrome [RCV003989870]|HTRA1-related cerebral small vessel disease [RCV004767511]|HTRA1-related disorder [RCV003959258] |
Chr10:122510131 [GRCh38] Chr10:124269647 [GRCh37] Chr10:10q26.13 |
pathogenic|likely pathogenic |
NM_002775.5(HTRA1):c.837G>A (p.Val279=) |
single nucleotide variant |
HTRA1-related disorder [RCV003969524] |
Chr10:122506750 [GRCh38] Chr10:124266266 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.840C>T (p.Val280=) |
single nucleotide variant |
HTRA1-related disorder [RCV003957038] |
Chr10:122506753 [GRCh38] Chr10:124266269 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.1182A>G (p.Lys394=) |
single nucleotide variant |
HTRA1-related disorder [RCV003937251] |
Chr10:122511973 [GRCh38] Chr10:124271489 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.260T>G (p.Leu87Arg) |
single nucleotide variant |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV004555719] |
Chr10:122461912 [GRCh38] Chr10:124221428 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.1144T>C (p.Tyr382His) |
single nucleotide variant |
HTRA1-related disorder [RCV003896874] |
Chr10:122510119 [GRCh38] Chr10:124269635 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.1095G>A (p.Thr365=) |
single nucleotide variant |
HTRA1-related disorder [RCV003934295] |
Chr10:122508745 [GRCh38] Chr10:124268261 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.27C>G (p.Leu9=) |
single nucleotide variant |
HTRA1-related disorder [RCV003946757] |
Chr10:122461679 [GRCh38] Chr10:124221195 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.62C>T (p.Ser21Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004397441] |
Chr10:122461714 [GRCh38] Chr10:124221230 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.76C>T (p.Arg26Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004397442] |
Chr10:122461728 [GRCh38] Chr10:124221244 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.118C>G (p.Arg40Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004397439] |
Chr10:122461770 [GRCh38] Chr10:124221286 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.1222G>A (p.Val408Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004397440] |
Chr10:122512013 [GRCh38] Chr10:124271529 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NC_000010.10:g.(?_122610933)_(124813281_?)dup |
duplication |
FGFR2-related craniosynostosis [RCV004581690] |
Chr10:122610933..124813281 [GRCh37] Chr10:10q26.12-26.13 |
uncertain significance |
NC_000010.10:g.(?_122842033)_(124813281_?)del |
deletion |
Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV004580450] |
Chr10:122842033..124813281 [GRCh37] Chr10:10q26.12-26.13 |
pathogenic |
NM_002775.5(HTRA1):c.526G>T (p.Val176Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004635340] |
Chr10:122488955 [GRCh38] Chr10:124248471 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.1438C>T (p.Pro480Ser) |
single nucleotide variant |
not provided [RCV004793299] |
Chr10:122514354 [GRCh38] Chr10:124273870 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.645C>G (p.Ile215Met) |
single nucleotide variant |
not provided [RCV004723996] |
Chr10:122489494 [GRCh38] Chr10:124249010 [GRCh37] Chr10:10q26.13 |
uncertain significance |
NM_002775.5(HTRA1):c.506A>T (p.Tyr169Phe) |
single nucleotide variant |
not provided [RCV004762517] |
|
uncertain significance |
NM_002775.5(HTRA1):c.990C>A (p.Gly330=) |
single nucleotide variant |
not provided [RCV004809118] |
Chr10:122507387 [GRCh38] Chr10:124266903 [GRCh37] Chr10:10q26.13 |
likely benign |
NM_002775.5(HTRA1):c.1066C>T (p.Pro356Ser) |
single nucleotide variant |
not provided [RCV004769905] |
Chr10:122508716 [GRCh38] Chr10:124268232 [GRCh37] Chr10:10q26.13 |
uncertain significance |