| NM_001060.6(TBXA2R):c.722T>G (p.Val241Gly) |
single nucleotide variant |
Bleeding disorder, platelet-type, 13, susceptibility to [RCV000032790] |
Chr19:3599913 [GRCh38]
Chr19:3599911 [GRCh37]
Chr19:19p13.3 |
risk factor |
| NM_001060.6(TBXA2R):c.910G>A (p.Asp304Asn) |
single nucleotide variant |
Bleeding disorder, platelet-type, 13, susceptibility to [RCV000022789] |
Chr19:3595810 [GRCh38]
Chr19:3595808 [GRCh37]
Chr19:19p13.3 |
risk factor |
| NM_001060.6(TBXA2R):c.179G>T (p.Arg60Leu) |
single nucleotide variant |
Asthma [RCV003128127]|Bleeding disorder, platelet-type, 13, susceptibility to [RCV000013549] |
Chr19:3600456 [GRCh38]
Chr19:3600454 [GRCh37]
Chr19:19p13.3 |
risk factor|likely risk allele|benign |
| GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3 |
copy number gain |
See cases [RCV000052878] |
Chr19:1565575..4108128 [GRCh38]
Chr19:1565574..4108126 [GRCh37]
Chr19:1516574..4059126 [NCBI36]
Chr19:19p13.3 |
pathogenic |
| GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 |
copy number gain |
See cases [RCV000052879] |
Chr19:1972245..9648879 [GRCh38]
Chr19:1972244..9759555 [GRCh37]
Chr19:1923244..9620555 [NCBI36]
Chr19:19p13.3-13.2 |
pathogenic |
| GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] |
Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2 |
pathogenic |
| GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 |
copy number gain |
See cases [RCV000052575] |
Chr19:233565..4699472 [GRCh38]
Chr19:233565..4699484 [GRCh37]
Chr19:184565..4650484 [NCBI36]
Chr19:19p13.3 |
pathogenic |
| GRCh38/hg38 19p13.3(chr19:3080621-3730716)x3 |
copy number gain |
See cases [RCV000054107] |
Chr19:3080621..3730716 [GRCh38]
Chr19:3080619..3730714 [GRCh37]
Chr19:3031619..3681714 [NCBI36]
Chr19:19p13.3 |
uncertain significance |
| GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1 |
copy number loss |
See cases [RCV000053942] |
Chr19:2926238..4051635 [GRCh38]
Chr19:2926236..4051633 [GRCh37]
Chr19:2877236..4002633 [NCBI36]
Chr19:19p13.3 |
pathogenic |
| GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1 |
copy number loss |
See cases [RCV000053943] |
Chr19:3554635..4690965 [GRCh38]
Chr19:3554633..4690977 [GRCh37]
Chr19:3505633..4641977 [NCBI36]
Chr19:19p13.3 |
pathogenic |
| NM_133261.2(GIPC3):c.*420G>A |
single nucleotide variant |
Malignant melanoma [RCV000072058] |
Chr19:3590610 [GRCh38]
Chr19:3590608 [GRCh37]
Chr19:3541608 [NCBI36]
Chr19:19p13.3 |
not provided |
| NM_133261.2(GIPC3):c.*2709G>A |
single nucleotide variant |
Malignant melanoma [RCV000072059] |
Chr19:3592899 [GRCh38]
Chr19:3592897 [GRCh37]
Chr19:3543897 [NCBI36]
Chr19:19p13.3 |
not provided |
| GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1 |
copy number loss |
See cases [RCV000134482] |
Chr19:3338024..4833139 [GRCh38]
Chr19:3338022..4833151 [GRCh37]
Chr19:3289022..4784151 [NCBI36]
Chr19:19p13.3 |
pathogenic |
| GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1 |
copy number loss |
See cases [RCV000134795] |
Chr19:1549144..4288720 [GRCh38]
Chr19:1549143..4288717 [GRCh37]
Chr19:1500143..4239717 [NCBI36]
Chr19:19p13.3 |
pathogenic |
| GRCh38/hg38 19p13.3(chr19:3437996-4039217)x1 |
copy number loss |
See cases [RCV000135779] |
Chr19:3437996..4039217 [GRCh38]
Chr19:3437994..4039215 [GRCh37]
Chr19:3388994..3990215 [NCBI36]
Chr19:19p13.3 |
pathogenic |
| GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3 |
copy number gain |
See cases [RCV000137713] |
Chr19:3080621..4912622 [GRCh38]
Chr19:3080619..4912634 [GRCh37]
Chr19:3031619..4863634 [NCBI36]
Chr19:19p13.3 |
likely pathogenic |
| GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 |
copy number gain |
See cases [RCV000142627] |
Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3 |
pathogenic |
| NM_001060.6(TBXA2R):c.435G>A (p.Ser145=) |
single nucleotide variant |
not provided [RCV001707603]|not specified [RCV000251151] |
Chr19:3600200 [GRCh38]
Chr19:3600198 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001060.6(TBXA2R):c.243C>T (p.Thr81=) |
single nucleotide variant |
not provided [RCV001610762]|not specified [RCV000244990] |
Chr19:3600392 [GRCh38]
Chr19:3600390 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001060.6(TBXA2R):c.*654G>A |
single nucleotide variant |
not provided [RCV001640589]|not specified [RCV000250050] |
Chr19:3595034 [GRCh38]
Chr19:3595032 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001060.6(TBXA2R):c.924T>C (p.Tyr308=) |
single nucleotide variant |
not provided [RCV001536925]|not specified [RCV000247775] |
Chr19:3595796 [GRCh38]
Chr19:3595794 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001060.6(TBXA2R):c.795C>T (p.Ile265=) |
single nucleotide variant |
not provided [RCV001683147]|not specified [RCV000243158] |
Chr19:3595925 [GRCh38]
Chr19:3595923 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001060.6(TBXA2R):c.*680T>C |
single nucleotide variant |
not provided [RCV001668616]|not specified [RCV000252979] |
Chr19:3595008 [GRCh38]
Chr19:3595006 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001060.6(TBXA2R):c.-83-129_-83-127dup |
duplication |
not provided [RCV001545115] |
Chr19:3600826..3600827 [GRCh38]
Chr19:3600824..3600825 [GRCh37]
Chr19:19p13.3 |
likely benign |
| GRCh37/hg19 19p13.3(chr19:2652901-4342179)x3 |
copy number gain |
See cases [RCV000448078] |
Chr19:2652901..4342179 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.82C>T (p.Pro28Ser) |
single nucleotide variant |
not provided [RCV000492858] |
Chr19:3600553 [GRCh38]
Chr19:3600551 [GRCh37]
Chr19:19p13.3 |
likely pathogenic |
| GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 |
copy number gain |
See cases [RCV000511289] |
Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43 |
pathogenic|uncertain significance |
| NM_001060.6(TBXA2R):c.622G>A (p.Val208Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003261719]|not provided [RCV003699057] |
Chr19:3600013 [GRCh38]
Chr19:3600011 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) |
copy number gain |
See cases [RCV000512296] |
Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43 |
pathogenic |
| GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3 |
copy number gain |
not provided [RCV000684096] |
Chr19:3120160..9732820 [GRCh37]
Chr19:19p13.3-13.2 |
pathogenic |
| GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 |
copy number gain |
not provided [RCV000752444] |
Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43 |
pathogenic |
| GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 |
copy number gain |
not provided [RCV000752439] |
Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43 |
pathogenic |
| GRCh37/hg19 19p13.3(chr19:3471275-3647901)x3 |
copy number gain |
not provided [RCV000740003] |
Chr19:3471275..3647901 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001060.6(TBXA2R):c.-83-109_-83-108insAA |
insertion |
not provided [RCV001648197] |
Chr19:3600825..3600826 [GRCh38]
Chr19:3600823..3600824 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001060.6(TBXA2R):c.787-289C>A |
single nucleotide variant |
not provided [RCV001577883] |
Chr19:3596222 [GRCh38]
Chr19:3596220 [GRCh37]
Chr19:19p13.3 |
likely benign |
| GRCh37/hg19 19p13.3(chr19:3076808-4796782) |
copy number loss |
not provided [RCV000767742] |
Chr19:3076808..4796782 [GRCh37]
Chr19:19p13.3 |
pathogenic |
| NM_001060.6(TBXA2R):c.649G>A (p.Val217Ile) |
single nucleotide variant |
TBXA2R-related condition [RCV003970832]|not provided [RCV000961575] |
Chr19:3599986 [GRCh38]
Chr19:3599984 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001060.6(TBXA2R):c.558G>A (p.Thr186=) |
single nucleotide variant |
not provided [RCV000947899] |
Chr19:3600077 [GRCh38]
Chr19:3600075 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001060.6(TBXA2R):c.713A>G (p.Asp238Gly) |
single nucleotide variant |
Impaired thromboxane A2 agonist-induced platelet aggregation [RCV000852196]|not provided [RCV002533977]|not specified [RCV003489861] |
Chr19:3599922 [GRCh38]
Chr19:3599920 [GRCh37]
Chr19:19p13.3 |
likely benign|uncertain significance |
| NM_001060.6(TBXA2R):c.787-2A>G |
single nucleotide variant |
Abnormal platelet aggregation [RCV000851879] |
Chr19:3595935 [GRCh38]
Chr19:3595933 [GRCh37]
Chr19:19p13.3 |
likely pathogenic |
| Single allele |
deletion |
Internal malformations [RCV000787421] |
Chr19:2229488..4004142 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| GRCh37/hg19 19p13.3(chr19:3132909-3907470)x3 |
copy number gain |
not provided [RCV000847631] |
Chr19:3132909..3907470 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NC_000019.9:g.1406030_3597207dup |
duplication |
Neurodevelopmental disorder [RCV000787423] |
Chr19:1406030..3597207 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| GRCh37/hg19 19p13.3(chr19:260911-4788357)x3 |
copy number gain |
not provided [RCV000846988] |
Chr19:260911..4788357 [GRCh37]
Chr19:19p13.3 |
pathogenic |
| NM_001060.6(TBXA2R):c.848C>G (p.Ser283Cys) |
single nucleotide variant |
Abnormal platelet aggregation [RCV000851900] |
Chr19:3595872 [GRCh38]
Chr19:3595870 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.340TTC[1] (p.Phe115del) |
microsatellite |
Impaired thromboxane A2 agonist-induced platelet aggregation [RCV000851638] |
Chr19:3600290..3600292 [GRCh38]
Chr19:3600288..3600290 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.67C>G (p.Arg23Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003273923] |
Chr19:3600568 [GRCh38]
Chr19:3600566 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.*275A>G |
single nucleotide variant |
not provided [RCV001590339] |
Chr19:3595413 [GRCh38]
Chr19:3595411 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.-83-129_-83-128dup |
duplication |
not provided [RCV001660775] |
Chr19:3600826..3600827 [GRCh38]
Chr19:3600824..3600825 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001060.6(TBXA2R):c.*609del |
deletion |
not provided [RCV001639938] |
Chr19:3595079 [GRCh38]
Chr19:3595077 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001060.6(TBXA2R):c.787-74A>G |
single nucleotide variant |
not provided [RCV001635615] |
Chr19:3596007 [GRCh38]
Chr19:3596005 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001060.6(TBXA2R):c.429C>T (p.Val143=) |
single nucleotide variant |
not provided [RCV000947900] |
Chr19:3600206 [GRCh38]
Chr19:3600204 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001060.6(TBXA2R):c.549C>T (p.Cys183=) |
single nucleotide variant |
not provided [RCV000912581] |
Chr19:3600086 [GRCh38]
Chr19:3600084 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001060.6(TBXA2R):c.*608_*609del |
deletion |
not provided [RCV001575256] |
Chr19:3595079..3595080 [GRCh38]
Chr19:3595077..3595078 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.786+224A>G |
single nucleotide variant |
not provided [RCV001621402] |
Chr19:3599625 [GRCh38]
Chr19:3599623 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001060.6(TBXA2R):c.1010C>A (p.Thr337Lys) |
single nucleotide variant |
not provided [RCV003234284] |
Chr19:3595710 [GRCh38]
Chr19:3595708 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.-83-129dup |
duplication |
not provided [RCV001695891] |
Chr19:3600826..3600827 [GRCh38]
Chr19:3600824..3600825 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001060.6(TBXA2R):c.-83-109C>A |
single nucleotide variant |
not provided [RCV001696162] |
Chr19:3600826 [GRCh38]
Chr19:3600824 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001060.6(TBXA2R):c.*282G>C |
single nucleotide variant |
not provided [RCV001660926] |
Chr19:3595406 [GRCh38]
Chr19:3595404 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001060.6(TBXA2R):c.*314C>T |
single nucleotide variant |
not provided [RCV001715854] |
Chr19:3595374 [GRCh38]
Chr19:3595372 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001060.6(TBXA2R):c.*164C>T |
single nucleotide variant |
not provided [RCV001725017] |
Chr19:3595524 [GRCh38]
Chr19:3595522 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001060.6(TBXA2R):c.*608_*609dup |
duplication |
not provided [RCV001708014] |
Chr19:3595078..3595079 [GRCh38]
Chr19:3595076..3595077 [GRCh37]
Chr19:19p13.3 |
benign |
| GRCh37/hg19 19p13.3(chr19:260912-4384674)x3 |
copy number gain |
See cases [RCV001007443] |
Chr19:260912..4384674 [GRCh37]
Chr19:19p13.3 |
pathogenic |
| NM_001060.6(TBXA2R):c.786+5G>A |
single nucleotide variant |
Bleeding disorder, platelet-type, 13, susceptibility to [RCV002280959] |
Chr19:3599844 [GRCh38]
Chr19:3599842 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.388C>T (p.Arg130Cys) |
single nucleotide variant |
Bleeding disorder, platelet-type, 13, susceptibility to [RCV002280960]|TBXA2R-related condition [RCV003408202] |
Chr19:3600247 [GRCh38]
Chr19:3600245 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.620C>T (p.Ser207Leu) |
single nucleotide variant |
Bleeding disorder, platelet-type, 13, susceptibility to [RCV002280961] |
Chr19:3600015 [GRCh38]
Chr19:3600013 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.100T>C (p.Phe34Leu) |
single nucleotide variant |
not provided [RCV001358578] |
Chr19:3600535 [GRCh38]
Chr19:3600533 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.*609dup |
duplication |
not provided [RCV001643335] |
Chr19:3595078..3595079 [GRCh38]
Chr19:3595076..3595077 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001060.6(TBXA2R):c.786+170G>A |
single nucleotide variant |
not provided [RCV001615856] |
Chr19:3599679 [GRCh38]
Chr19:3599677 [GRCh37]
Chr19:19p13.3 |
benign |
| NM_001060.6(TBXA2R):c.*653C>T |
single nucleotide variant |
not provided [RCV001713833] |
Chr19:3595035 [GRCh38]
Chr19:3595033 [GRCh37]
Chr19:19p13.3 |
benign |
| NC_000019.9:g.(?_589946)_(4818389_?)dup |
duplication |
not provided [RCV003105391] |
Chr19:589946..4818389 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.175A>G (p.Thr59Ala) |
single nucleotide variant |
not provided [RCV001756541] |
Chr19:3600460 [GRCh38]
Chr19:3600458 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.953G>A (p.Arg318His) |
single nucleotide variant |
not provided [RCV003104552] |
Chr19:3595767 [GRCh38]
Chr19:3595765 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| GRCh37/hg19 19p13.3(chr19:3501624-5357124)x1 |
copy number loss |
not provided [RCV001834187] |
Chr19:3501624..5357124 [GRCh37]
Chr19:19p13.3 |
pathogenic |
| NC_000019.9:g.(?_589946)_(5696788_?)dup |
duplication |
not provided [RCV003113597] |
Chr19:589946..5696788 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NC_000019.9:g.(?_3585596)_(3607681_?)dup |
duplication |
not provided [RCV003122420] |
Chr19:3585596..3607681 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.937C>T (p.Arg313Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003252624]|not provided [RCV003779900] |
Chr19:3595783 [GRCh38]
Chr19:3595781 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.548G>A (p.Cys183Tyr) |
single nucleotide variant |
Bleeding disorder, platelet-type, 13, susceptibility to [RCV002245478] |
Chr19:3600087 [GRCh38]
Chr19:3600085 [GRCh37]
Chr19:19p13.3 |
likely pathogenic |
| NM_001060.6(TBXA2R):c.840G>A (p.Gly280=) |
single nucleotide variant |
Bleeding disorder, platelet-type, 13, susceptibility to [RCV002280958]|not provided [RCV003574898] |
Chr19:3595880 [GRCh38]
Chr19:3595878 [GRCh37]
Chr19:19p13.3 |
likely benign|uncertain significance |
| NM_001060.6(TBXA2R):c.1016G>A (p.Arg339His) |
single nucleotide variant |
not provided [RCV002971608] |
Chr19:3595704 [GRCh38]
Chr19:3595702 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.196T>C (p.Phe66Leu) |
single nucleotide variant |
Bleeding disorder, platelet-type, 13, susceptibility to [RCV003388137]|not provided [RCV002971255] |
Chr19:3600439 [GRCh38]
Chr19:3600437 [GRCh37]
Chr19:19p13.3 |
likely benign|uncertain significance |
| NM_001060.6(TBXA2R):c.1010C>T (p.Thr337Met) |
single nucleotide variant |
not provided [RCV002686302] |
Chr19:3595710 [GRCh38]
Chr19:3595708 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.455C>T (p.Thr152Ile) |
single nucleotide variant |
not provided [RCV002622999] |
Chr19:3600180 [GRCh38]
Chr19:3600178 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.110T>C (p.Val37Ala) |
single nucleotide variant |
not provided [RCV002592992] |
Chr19:3600525 [GRCh38]
Chr19:3600523 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.177G>C (p.Thr59=) |
single nucleotide variant |
not provided [RCV002949347] |
Chr19:3600458 [GRCh38]
Chr19:3600456 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.831C>T (p.Ser277=) |
single nucleotide variant |
not provided [RCV003054049] |
Chr19:3595889 [GRCh38]
Chr19:3595887 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.206_211del (p.Gly69_Leu70del) |
deletion |
not provided [RCV002889348] |
Chr19:3600424..3600429 [GRCh38]
Chr19:3600422..3600427 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.28C>T (p.Pro10Ser) |
single nucleotide variant |
not provided [RCV002591292] |
Chr19:3600607 [GRCh38]
Chr19:3600605 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.91G>A (p.Ala31Thr) |
single nucleotide variant |
not provided [RCV002847093] |
Chr19:3600544 [GRCh38]
Chr19:3600542 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.391T>C (p.Tyr131His) |
single nucleotide variant |
Inborn genetic diseases [RCV002822709] |
Chr19:3600244 [GRCh38]
Chr19:3600242 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.150G>A (p.Ala50=) |
single nucleotide variant |
not provided [RCV002622795] |
Chr19:3600485 [GRCh38]
Chr19:3600483 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.442C>T (p.Arg148Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002845484] |
Chr19:3600193 [GRCh38]
Chr19:3600191 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.917G>A (p.Trp306Ter) |
single nucleotide variant |
not provided [RCV003055295] |
Chr19:3595803 [GRCh38]
Chr19:3595801 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.669C>T (p.Cys223=) |
single nucleotide variant |
not provided [RCV002620411] |
Chr19:3599966 [GRCh38]
Chr19:3599964 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.492C>T (p.Gly164=) |
single nucleotide variant |
not provided [RCV002909587] |
Chr19:3600143 [GRCh38]
Chr19:3600141 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.125A>T (p.Asn42Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002830668] |
Chr19:3600510 [GRCh38]
Chr19:3600508 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.710G>T (p.Arg237Leu) |
single nucleotide variant |
not provided [RCV002791027] |
Chr19:3599925 [GRCh38]
Chr19:3599923 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.1015_1021del (p.Arg339fs) |
deletion |
not provided [RCV002700483] |
Chr19:3595699..3595705 [GRCh38]
Chr19:3595697..3595703 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.510C>T (p.Gly170=) |
single nucleotide variant |
not provided [RCV002876049] |
Chr19:3600125 [GRCh38]
Chr19:3600123 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.131T>A (p.Leu44Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002803134] |
Chr19:3600504 [GRCh38]
Chr19:3600502 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.848C>A (p.Ser283Tyr) |
single nucleotide variant |
not provided [RCV002932604] |
Chr19:3595872 [GRCh38]
Chr19:3595870 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.782T>A (p.Leu261His) |
single nucleotide variant |
not provided [RCV002958798] |
Chr19:3599853 [GRCh38]
Chr19:3599851 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.53C>T (p.Thr18Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002709815] |
Chr19:3600582 [GRCh38]
Chr19:3600580 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.1015C>T (p.Arg339Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002708958]|not provided [RCV003565612] |
Chr19:3595705 [GRCh38]
Chr19:3595703 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.806T>A (p.Val269Glu) |
single nucleotide variant |
not provided [RCV003057714] |
Chr19:3595914 [GRCh38]
Chr19:3595912 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.801G>A (p.Gln267=) |
single nucleotide variant |
TBXA2R-related condition [RCV003898631]|not provided [RCV002958293] |
Chr19:3595919 [GRCh38]
Chr19:3595917 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.951G>A (p.Arg317=) |
single nucleotide variant |
not provided [RCV002928774] |
Chr19:3595769 [GRCh38]
Chr19:3595767 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.348C>T (p.Gly116=) |
single nucleotide variant |
not provided [RCV002646370] |
Chr19:3600287 [GRCh38]
Chr19:3600285 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.1013A>T (p.Gln338Leu) |
single nucleotide variant |
not provided [RCV002714871] |
Chr19:3595707 [GRCh38]
Chr19:3595705 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.435G>T (p.Ser145=) |
single nucleotide variant |
not provided [RCV002922512] |
Chr19:3600200 [GRCh38]
Chr19:3600198 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.514G>A (p.Gly172Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002832745] |
Chr19:3600121 [GRCh38]
Chr19:3600119 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.472G>A (p.Ala158Thr) |
single nucleotide variant |
not provided [RCV002646897] |
Chr19:3600163 [GRCh38]
Chr19:3600161 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.424G>A (p.Ala142Thr) |
single nucleotide variant |
not provided [RCV003011447] |
Chr19:3600211 [GRCh38]
Chr19:3600209 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.198C>G (p.Phe66Leu) |
single nucleotide variant |
Bleeding disorder, platelet-type, 13, susceptibility to [RCV003388132]|not provided [RCV002921928] |
Chr19:3600437 [GRCh38]
Chr19:3600435 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.211G>A (p.Val71Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002675181]|not provided [RCV003778567] |
Chr19:3600424 [GRCh38]
Chr19:3600422 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.478G>A (p.Ala160Thr) |
single nucleotide variant |
not provided [RCV002943877] |
Chr19:3600157 [GRCh38]
Chr19:3600155 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.999G>T (p.Gln333His) |
single nucleotide variant |
not provided [RCV003071680]|not specified [RCV003331426] |
Chr19:3595721 [GRCh38]
Chr19:3595719 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NC_000019.9:g.(?_1206913)_(3771740_?)dup |
duplication |
not provided [RCV003154903] |
Chr19:1206913..3771740 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.850C>T (p.Arg284Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003210099] |
Chr19:3595870 [GRCh38]
Chr19:3595868 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.328G>A (p.Val110Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003197565] |
Chr19:3600307 [GRCh38]
Chr19:3600305 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.703C>T (p.Arg235Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003200901] |
Chr19:3599932 [GRCh38]
Chr19:3599930 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.995T>C (p.Leu332Pro) |
single nucleotide variant |
not provided [RCV003872629] |
Chr19:3595725 [GRCh38]
Chr19:3595723 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.*28C>T |
single nucleotide variant |
not provided [RCV003334208] |
Chr19:3595660 [GRCh38]
Chr19:3595658 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.141C>G (p.Ser47Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003362053] |
Chr19:3600494 [GRCh38]
Chr19:3600492 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.838G>A (p.Gly280Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003363726] |
Chr19:3595882 [GRCh38]
Chr19:3595880 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.1028A>G (p.Gln343Arg) |
single nucleotide variant |
not provided [RCV003874730] |
Chr19:3595692 [GRCh38]
Chr19:3595690 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.787-14T>C |
single nucleotide variant |
not provided [RCV003570644] |
Chr19:3595947 [GRCh38]
Chr19:3595945 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.120C>T (p.Ala40=) |
single nucleotide variant |
TBXA2R-related condition [RCV003954227]|not provided [RCV003543859] |
Chr19:3600515 [GRCh38]
Chr19:3600513 [GRCh37]
Chr19:19p13.3 |
likely benign |
| GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3 |
copy number gain |
not provided [RCV003485190] |
Chr19:260912..7246777 [GRCh37]
Chr19:19p13.3-13.2 |
pathogenic |
| NM_001060.6(TBXA2R):c.*841A>G |
single nucleotide variant |
not specified [RCV003479737] |
Chr19:3594847 [GRCh38]
Chr19:3594845 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.370GCC[1] (p.Ala125del) |
microsatellite |
TBXA2R-related condition [RCV003400465] |
Chr19:3600260..3600262 [GRCh38]
Chr19:3600258..3600260 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.735T>A (p.Ala245=) |
single nucleotide variant |
not provided [RCV003577062] |
Chr19:3599900 [GRCh38]
Chr19:3599898 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.186C>A (p.Ser62=) |
single nucleotide variant |
not provided [RCV003549111]|not specified [RCV003490833] |
Chr19:3600449 [GRCh38]
Chr19:3600447 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.274C>T (p.Leu92Phe) |
single nucleotide variant |
not provided [RCV003574216] |
Chr19:3600361 [GRCh38]
Chr19:3600359 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.762C>A (p.Ala254=) |
single nucleotide variant |
TBXA2R-related condition [RCV003908990]|not provided [RCV003577650] |
Chr19:3599873 [GRCh38]
Chr19:3599871 [GRCh37]
Chr19:19p13.3 |
benign|likely benign |
| NM_001060.6(TBXA2R):c.59A>C (p.Glu20Ala) |
single nucleotide variant |
not provided [RCV003739598] |
Chr19:3600576 [GRCh38]
Chr19:3600574 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.195C>T (p.Thr65=) |
single nucleotide variant |
not provided [RCV003693189] |
Chr19:3600440 [GRCh38]
Chr19:3600438 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.786+18G>A |
single nucleotide variant |
not provided [RCV003826474] |
Chr19:3599831 [GRCh38]
Chr19:3599829 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.834C>T (p.Pro278=) |
single nucleotide variant |
not provided [RCV003833699] |
Chr19:3595886 [GRCh38]
Chr19:3595884 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.857C>T (p.Thr286Met) |
single nucleotide variant |
not provided [RCV003835149] |
Chr19:3595863 [GRCh38]
Chr19:3595861 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.552C>T (p.Phe184=) |
single nucleotide variant |
not provided [RCV003666273] |
Chr19:3600083 [GRCh38]
Chr19:3600081 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.163G>T (p.Gly55Trp) |
single nucleotide variant |
not provided [RCV003561982] |
Chr19:3600472 [GRCh38]
Chr19:3600470 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.934C>T (p.Arg312Cys) |
single nucleotide variant |
not provided [RCV003840313] |
Chr19:3595786 [GRCh38]
Chr19:3595784 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.280G>A (p.Glu94Lys) |
single nucleotide variant |
not provided [RCV003703643] |
Chr19:3600355 [GRCh38]
Chr19:3600353 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.153C>T (p.Gly51=) |
single nucleotide variant |
not provided [RCV003559189] |
Chr19:3600482 [GRCh38]
Chr19:3600480 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.811C>T (p.Arg271Ter) |
single nucleotide variant |
not provided [RCV003671767] |
Chr19:3595909 [GRCh38]
Chr19:3595907 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.744G>T (p.Leu248=) |
single nucleotide variant |
not provided [RCV003836893] |
Chr19:3599891 [GRCh38]
Chr19:3599889 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.616_618del (p.Leu206del) |
deletion |
not provided [RCV003663666] |
Chr19:3600017..3600019 [GRCh38]
Chr19:3600015..3600017 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.568G>A (p.Glu190Lys) |
single nucleotide variant |
not provided [RCV003725145] |
Chr19:3600067 [GRCh38]
Chr19:3600065 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.787-9C>T |
single nucleotide variant |
not provided [RCV003558253] |
Chr19:3595942 [GRCh38]
Chr19:3595940 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.513G>A (p.Val171=) |
single nucleotide variant |
not provided [RCV003730745] |
Chr19:3600122 [GRCh38]
Chr19:3600120 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.8C>T (p.Pro3Leu) |
single nucleotide variant |
not provided [RCV003859924] |
Chr19:3600627 [GRCh38]
Chr19:3600625 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.478G>T (p.Ala160Ser) |
single nucleotide variant |
not provided [RCV003706951] |
Chr19:3600157 [GRCh38]
Chr19:3600155 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.717C>T (p.Ser239=) |
single nucleotide variant |
not provided [RCV003820638] |
Chr19:3599918 [GRCh38]
Chr19:3599916 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.823G>C (p.Ala275Pro) |
single nucleotide variant |
not provided [RCV003844992] |
Chr19:3595897 [GRCh38]
Chr19:3595895 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.105C>T (p.Cys35=) |
single nucleotide variant |
not provided [RCV003554147] |
Chr19:3600530 [GRCh38]
Chr19:3600528 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.189C>G (p.Phe63Leu) |
single nucleotide variant |
not provided [RCV003682896] |
Chr19:3600446 [GRCh38]
Chr19:3600444 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.567C>A (p.Ala189=) |
single nucleotide variant |
not provided [RCV003820482] |
Chr19:3600068 [GRCh38]
Chr19:3600066 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.288C>T (p.His96=) |
single nucleotide variant |
not provided [RCV003870232] |
Chr19:3600347 [GRCh38]
Chr19:3600345 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.-6G>A |
single nucleotide variant |
TBXA2R-related condition [RCV003941575] |
Chr19:3600640 [GRCh38]
Chr19:3600638 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.882G>A (p.Leu294=) |
single nucleotide variant |
not provided [RCV003822348] |
Chr19:3595838 [GRCh38]
Chr19:3595836 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.747G>A (p.Gly249=) |
single nucleotide variant |
not provided [RCV003722791] |
Chr19:3599888 [GRCh38]
Chr19:3599886 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.419G>A (p.Arg140His) |
single nucleotide variant |
not provided [RCV003867544] |
Chr19:3600216 [GRCh38]
Chr19:3600214 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.810G>T (p.Leu270=) |
single nucleotide variant |
not provided [RCV003722249] |
Chr19:3595910 [GRCh38]
Chr19:3595908 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.280_282del (p.Glu94del) |
deletion |
not provided [RCV003819012] |
Chr19:3600353..3600355 [GRCh38]
Chr19:3600351..3600353 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.796G>A (p.Ala266Thr) |
single nucleotide variant |
not provided [RCV003865309] |
Chr19:3595924 [GRCh38]
Chr19:3595922 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.949C>T (p.Arg317Trp) |
single nucleotide variant |
not provided [RCV003823713] |
Chr19:3595771 [GRCh38]
Chr19:3595769 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.157C>T (p.Arg53Trp) |
single nucleotide variant |
not provided [RCV003553120] |
Chr19:3600478 [GRCh38]
Chr19:3600476 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.38G>A (p.Arg13Gln) |
single nucleotide variant |
not provided [RCV003563523] |
Chr19:3600597 [GRCh38]
Chr19:3600595 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.189C>A (p.Phe63Leu) |
single nucleotide variant |
not provided [RCV003707997] |
Chr19:3600446 [GRCh38]
Chr19:3600444 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.270C>T (p.Ala90=) |
single nucleotide variant |
not provided [RCV003843845] |
Chr19:3600365 [GRCh38]
Chr19:3600363 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.835G>A (p.Ala279Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004366750]|not provided [RCV003820112] |
Chr19:3595885 [GRCh38]
Chr19:3595883 [GRCh37]
Chr19:19p13.3 |
likely benign|uncertain significance |
| NM_001060.6(TBXA2R):c.43A>G (p.Thr15Ala) |
single nucleotide variant |
not specified [RCV003994983] |
Chr19:3600592 [GRCh38]
Chr19:3600590 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.*4G>T |
single nucleotide variant |
TBXA2R-related condition [RCV003929401] |
Chr19:3595684 [GRCh38]
Chr19:3595682 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.*846G>C |
single nucleotide variant |
TBXA2R-related condition [RCV003937193] |
Chr19:3594842 [GRCh38]
Chr19:3594840 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.504G>C (p.Leu168=) |
single nucleotide variant |
TBXA2R-related condition [RCV003896622] |
Chr19:3600131 [GRCh38]
Chr19:3600129 [GRCh37]
Chr19:19p13.3 |
likely benign |
| NM_001060.6(TBXA2R):c.167G>C (p.Gly56Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004474335] |
Chr19:3600468 [GRCh38]
Chr19:3600466 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
| NM_001060.6(TBXA2R):c.279C>G (p.Phe93Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004474336] |
Chr19:3600356 [GRCh38]
Chr19:3600354 [GRCh37]
Chr19:19p13.3 |
uncertain significance |
