NM_000505.4(F12):c.1768T>A (p.Cys590Ser) |
single nucleotide variant |
FACTOR XII (WASHINGTON D.C.) [RCV000001223] |
Chr5:177402372 [GRCh38] Chr5:176829373 [GRCh37] Chr5:5q35.3 |
pathogenic |
NM_000505.4(F12):c.1115G>C (p.Arg372Pro) |
single nucleotide variant |
FACTOR XII (LOCARNO) [RCV000001224] |
Chr5:177403994 [GRCh38] Chr5:176830995 [GRCh37] Chr5:5q35.3 |
pathogenic |
NM_000505.4(F12):c.-4T>C |
single nucleotide variant |
FACTOR XII POLYMORPHISM [RCV000001226]|Factor XII deficiency disease [RCV000293630]|Hereditary angioedema type 3 [RCV000346234]|not provided [RCV001723528]|not specified [RCV000242780] |
Chr5:177409531 [GRCh38] Chr5:176836532 [GRCh37] Chr5:5q35.3 |
benign |
NM_000505.4(F12):c.158A>G (p.Tyr53Cys) |
single nucleotide variant |
FACTOR XII (TENRI) [RCV000001227]|Factor XII deficiency disease [RCV000778921]|Hereditary angioedema type 3 [RCV001158012] |
Chr5:177406019 [GRCh38] Chr5:176833020 [GRCh37] Chr5:5q35.3 |
pathogenic|uncertain significance |
NM_000505.4(F12):c.983C>A (p.Thr328Lys) |
single nucleotide variant |
Factor XII deficiency disease [RCV000763138]|Hereditary angioedema type 3 [RCV000001228]|Hereditary angioneurotic edema [RCV000222890]|not provided [RCV000255869] |
Chr5:177404231 [GRCh38] Chr5:176831232 [GRCh37] Chr5:5q35.3 |
pathogenic |
NM_000505.4(F12):c.983C>G (p.Thr328Arg) |
single nucleotide variant |
Factor XII deficiency disease [RCV001198361]|Hereditary angioedema type 3 [RCV000001229]|Hyperbilirubinemia [RCV000414902] |
Chr5:177404231 [GRCh38] Chr5:176831232 [GRCh37] Chr5:5q35.3 |
pathogenic |
NM_000505.4(F12):c.1681-1G>A |
single nucleotide variant |
F12-Related Disorders [RCV000382012]|Factor XII deficiency disease [RCV000001225]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000306437]|not provided [RCV001578121] |
Chr5:177402460 [GRCh38] Chr5:176829461 [GRCh37] Chr5:5q35.3 |
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity |
GRCh38/hg38 5q35.2-35.3(chr5:176132340-177586960)x1 |
copy number loss |
See cases [RCV000050645] |
Chr5:176132340..177586960 [GRCh38] Chr5:175559343..177013961 [GRCh37] Chr5:175491949..176946567 [NCBI36] Chr5:5q35.2-35.3 |
pathogenic |
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 |
copy number gain |
See cases [RCV000051863] |
Chr5:149714592..181272151 [GRCh38] Chr5:149094155..180699152 [GRCh37] Chr5:149074348..180631758 [NCBI36] Chr5:5q32-35.3 |
pathogenic |
GRCh38/hg38 5q33.3-35.3(chr5:160029980-181269805)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|See cases [RCV000051865] |
Chr5:160029980..181269805 [GRCh38] Chr5:159456987..180696806 [GRCh37] Chr5:159389565..180629412 [NCBI36] Chr5:5q33.3-35.3 |
pathogenic |
GRCh38/hg38 5q34-35.3(chr5:168689326-181269946)x3 |
copy number gain |
See cases [RCV000051866] |
Chr5:168689326..181269946 [GRCh38] Chr5:168116331..180696947 [GRCh37] Chr5:168048909..180629553 [NCBI36] Chr5:5q34-35.3 |
pathogenic |
GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3 |
copy number gain |
See cases [RCV000051867] |
Chr5:175851047..178365049 [GRCh38] Chr5:175278050..177792050 [GRCh37] Chr5:175210656..177724656 [NCBI36] Chr5:5q35.2-35.3 |
pathogenic |
GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3 |
copy number gain |
See cases [RCV000051868] |
Chr5:175889986..180793986 [GRCh38] Chr5:175316989..180220986 [GRCh37] Chr5:175249595..180153592 [NCBI36] Chr5:5q35.2-35.3 |
pathogenic |
GRCh38/hg38 5q35.2-35.3(chr5:175007241-179089812)x1 |
copy number loss |
See cases [RCV000052151] |
Chr5:175007241..179089812 [GRCh38] Chr5:174434244..178516813 [GRCh37] Chr5:174366850..178449419 [NCBI36] Chr5:5q35.2-35.3 |
pathogenic |
GRCh38/hg38 5q35.2-35.3(chr5:176043476-177995759)x1 |
copy number loss |
See cases [RCV000053127] |
Chr5:176043476..177995759 [GRCh38] Chr5:175470479..177422760 [GRCh37] Chr5:175403085..177355366 [NCBI36] Chr5:5q35.2-35.3 |
pathogenic |
GRCh38/hg38 5q35.2-35.3(chr5:176115257-177646633)x1 |
copy number loss |
See cases [RCV000053128] |
Chr5:176115257..177646633 [GRCh38] Chr5:175542260..177073634 [GRCh37] Chr5:175474866..177006240 [NCBI36] Chr5:5q35.2-35.3 |
pathogenic |
GRCh38/hg38 5q35.2-35.3(chr5:176152073-177986213)x1 |
copy number loss |
See cases [RCV000053129] |
Chr5:176152073..177986213 [GRCh38] Chr5:175579076..177413214 [GRCh37] Chr5:175511682..177345820 [NCBI36] Chr5:5q35.2-35.3 |
pathogenic |
GRCh38/hg38 5q35.2-35.3(chr5:176152073-177646633)x1 |
copy number loss |
See cases [RCV000053131] |
Chr5:176152073..177646633 [GRCh38] Chr5:175579076..177073634 [GRCh37] Chr5:175511682..177006240 [NCBI36] Chr5:5q35.2-35.3 |
pathogenic |
GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3 |
copy number gain |
See cases [RCV000053481] |
Chr5:176149599..177716401 [GRCh38] Chr5:175576602..177143402 [GRCh37] Chr5:175509208..177076008 [NCBI36] Chr5:5q35.2-35.3 |
pathogenic|uncertain significance |
GRCh38/hg38 5q35.2-35.3(chr5:176043476-177452489)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053860]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053860]|See cases [RCV000053860] |
Chr5:176043476..177452489 [GRCh38] Chr5:175470479..176879490 [GRCh37] Chr5:175403085..176812096 [NCBI36] Chr5:5q35.2-35.3 |
pathogenic|uncertain significance |
NM_000505.4(F12):c.1027G>C (p.Ala343Pro) |
single nucleotide variant |
Factor XII deficiency disease [RCV000490384]|not provided [RCV001529827] |
Chr5:177404082 [GRCh38] Chr5:176831083 [GRCh37] Chr5:5q35.3 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity |
GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3 |
copy number gain |
See cases [RCV000133847] |
Chr5:156825512..181269805 [GRCh38] Chr5:156252523..180696806 [GRCh37] Chr5:156185101..180629412 [NCBI36] Chr5:5q33.3-35.3 |
pathogenic |
GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3 |
copy number gain |
See cases [RCV000135546] |
Chr5:164386701..181269805 [GRCh38] Chr5:163813707..180696806 [GRCh37] Chr5:163746285..180629412 [NCBI36] Chr5:5q34-35.3 |
pathogenic |
GRCh38/hg38 5q35.3(chr5:177261458-177651722)x3 |
copy number gain |
See cases [RCV000138817] |
Chr5:177261458..177651722 [GRCh38] Chr5:176688459..177078723 [GRCh37] Chr5:176621065..177011329 [NCBI36] Chr5:5q35.3 |
likely benign|uncertain significance |
GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3 |
copy number gain |
See cases [RCV000141249] |
Chr5:169334755..181285301 [GRCh38] Chr5:168761759..180712302 [GRCh37] Chr5:168694337..180644908 [NCBI36] Chr5:5q35.1-35.3 |
pathogenic |
GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1 |
copy number loss |
See cases [RCV000141987] |
Chr5:175536771..181292788 [GRCh38] Chr5:174963774..180719789 [GRCh37] Chr5:174896380..180652395 [NCBI36] Chr5:5q35.2-35.3 |
pathogenic |
GRCh38/hg38 5q35.2-35.3(chr5:175989092-178009412)x1 |
copy number loss |
See cases [RCV000142365] |
Chr5:175989092..178009412 [GRCh38] Chr5:175416095..177436413 [GRCh37] Chr5:175348701..177369019 [NCBI36] Chr5:5q35.2-35.3 |
pathogenic |
GRCh38/hg38 5q35.2-35.3(chr5:176132340-177995759)x1 |
copy number loss |
See cases [RCV000142510] |
Chr5:176132340..177995759 [GRCh38] Chr5:175559343..177422760 [GRCh37] Chr5:175491949..177355366 [NCBI36] Chr5:5q35.2-35.3 |
pathogenic |
GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1 |
copy number loss |
See cases [RCV000142047] |
Chr5:176291838..178662699 [GRCh38] Chr5:175718841..178089700 [GRCh37] Chr5:175651447..178022306 [NCBI36] Chr5:5q35.2-35.3 |
pathogenic |
GRCh38/hg38 5q35.2-35.3(chr5:176517339-177709289)x1 |
copy number loss |
See cases [RCV000142538] |
Chr5:176517339..177709289 [GRCh38] Chr5:175944340..177136290 [GRCh37] Chr5:175876946..177068896 [NCBI36] Chr5:5q35.2-35.3 |
pathogenic |
GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1 |
copy number loss |
See cases [RCV000142648] |
Chr5:176700128..181269805 [GRCh38] Chr5:176127129..180696806 [GRCh37] Chr5:176059735..180629412 [NCBI36] Chr5:5q35.2-35.3 |
pathogenic |
GRCh38/hg38 5q35.2-35.3(chr5:176143674-178009412)x1 |
copy number loss |
See cases [RCV000143463] |
Chr5:176143674..178009412 [GRCh38] Chr5:175570677..177436413 [GRCh37] Chr5:175503283..177369019 [NCBI36] Chr5:5q35.2-35.3 |
pathogenic |
GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1 |
copy number loss |
See cases [RCV000167565] |
Chr5:174397487..180686444 [GRCh37] Chr5:5q35.2-35.3 |
pathogenic |
NM_000505.4(F12):c.398-12C>T |
single nucleotide variant |
Factor XII deficiency disease [RCV000263338]|Hereditary angioedema type 3 [RCV000316243]|not provided [RCV002058527] |
Chr5:177405197 [GRCh38] Chr5:176832198 [GRCh37] Chr5:5q35.3 |
benign|likely benign |
Single allele |
duplication |
not provided [RCV000768450] |
Chr5:175843728..180703728 [GRCh37] Chr5:5q35.2-35.3 |
likely pathogenic |
NM_000505.4(F12):c.1018+13G>C |
single nucleotide variant |
Factor XII deficiency disease [RCV000378159]|Hereditary angioedema type 3 [RCV000283662] |
Chr5:177404183 [GRCh38] Chr5:176831184 [GRCh37] Chr5:5q35.3 |
benign|likely benign|uncertain significance |
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 |
copy number gain |
not provided [RCV000487658] |
Chr5:94844077..178830410 [GRCh37] Chr5:5q15-35.3 |
likely benign |
NM_000505.4(F12):c.619G>C (p.Ala207Pro) |
single nucleotide variant |
Factor XII deficiency disease [RCV000360167]|Hereditary angioedema type 3 [RCV000264675]|not provided [RCV001711545]|not specified [RCV000252303] |
Chr5:177404825 [GRCh38] Chr5:176831826 [GRCh37] Chr5:5q35.3 |
benign |
NM_000505.4(F12):c.1107G>C (p.Ser369=) |
single nucleotide variant |
Factor XII deficiency disease [RCV000327151]|Hereditary angioedema type 3 [RCV000271624]|not provided [RCV000861563] |
Chr5:177404002 [GRCh38] Chr5:176831003 [GRCh37] Chr5:5q35.3 |
benign|likely benign|uncertain significance |
NM_000505.4(F12):c.1251-9C>T |
single nucleotide variant |
Factor XII deficiency disease [RCV000407124]|Hereditary angioedema type 3 [RCV001153639]|Hereditary angioneurotic edema [RCV000315363]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000262305]|not provided [RCV001668434]|not specified [RCV000247566] |
Chr5:177403626 [GRCh38] Chr5:176830627 [GRCh37] Chr5:5q35.3 |
benign |
NM_000505.4(F12):c.1025C>T (p.Pro342Leu) |
single nucleotide variant |
Factor XII deficiency disease [RCV000323673]|Hereditary angioedema type 3 [RCV000268631]|not provided [RCV000659040] |
Chr5:177404084 [GRCh38] Chr5:176831085 [GRCh37] Chr5:5q35.3 |
benign|likely benign|uncertain significance |
NM_000505.4(F12):c.930G>C (p.Arg310Ser) |
single nucleotide variant |
Factor XII deficiency disease [RCV000351816]|Hereditary angioedema type 3 [RCV000278152]|not provided [RCV000441555] |
Chr5:177404284 [GRCh38] Chr5:176831285 [GRCh37] Chr5:5q35.3 |
benign|likely benign |
NM_000505.4(F12):c.-3G>A |
single nucleotide variant |
Factor XII deficiency disease [RCV000333681]|Hereditary angioedema type 3 [RCV000385814] |
Chr5:177409530 [GRCh38] Chr5:176836531 [GRCh37] Chr5:5q35.3 |
likely benign|uncertain significance |
NM_000505.4(F12):c.1018+12G>C |
single nucleotide variant |
Factor XII deficiency disease [RCV000320036]|Hereditary angioedema type 3 [RCV000374697] |
Chr5:177404184 [GRCh38] Chr5:176831185 [GRCh37] Chr5:5q35.3 |
benign|likely benign|uncertain significance |
NM_000505.4(F12):c.-8C>T |
single nucleotide variant |
Factor XII deficiency disease [RCV000287899]|Hereditary angioedema type 3 [RCV000384518] |
Chr5:177409535 [GRCh38] Chr5:176836536 [GRCh37] Chr5:5q35.3 |
likely benign |
NM_000505.4(F12):c.418C>G (p.Leu140Val) |
single nucleotide variant |
Factor XII deficiency disease [RCV000322122]|Hereditary angioedema type 3 [RCV000355853]|not provided [RCV000860986] |
Chr5:177405165 [GRCh38] Chr5:176832166 [GRCh37] Chr5:5q35.3 |
benign|likely benign |
NM_000505.4(F12):c.928A>T (p.Arg310Trp) |
single nucleotide variant |
Factor XII deficiency disease [RCV000400267]|Hereditary angioedema type 3 [RCV000293356] |
Chr5:177404286 [GRCh38] Chr5:176831287 [GRCh37] Chr5:5q35.3 |
uncertain significance |
NM_000505.4(F12):c.711C>T (p.Pro237=) |
single nucleotide variant |
Factor XII deficiency disease [RCV000308826]|Hereditary angioedema type 3 [RCV000363476]|not provided [RCV001683404] |
Chr5:177404588 [GRCh38] Chr5:176831589 [GRCh37] Chr5:5q35.3 |
benign |
NM_000505.4(F12):c.348C>A (p.Gly116=) |
single nucleotide variant |
Factor XII deficiency disease [RCV000294965]|Hereditary angioedema type 3 [RCV000373101] |
Chr5:177405372 [GRCh38] Chr5:176832373 [GRCh37] Chr5:5q35.3 |
benign|likely benign|uncertain significance |
NM_000505.4(F12):c.1212C>G (p.Pro404=) |
single nucleotide variant |
Factor XII deficiency disease [RCV000311557]|Hereditary angioedema type 3 [RCV000366214] |
Chr5:177403897 [GRCh38] Chr5:176830898 [GRCh37] Chr5:5q35.3 |
uncertain significance |
NM_000505.4(F12):c.756C>T (p.Ala252=) |
single nucleotide variant |
Factor XII deficiency disease [RCV000348457]|Hereditary angioedema type 3 [RCV000407996]|not provided [RCV001662325] |
Chr5:177404543 [GRCh38] Chr5:176831544 [GRCh37] Chr5:5q35.3 |
benign |
NM_000505.4(F12):c.1251-12C>A |
single nucleotide variant |
Factor XII deficiency disease [RCV000405436]|Hereditary angioedema type 3 [RCV000370104] |
Chr5:177403629 [GRCh38] Chr5:176830630 [GRCh37] Chr5:5q35.3 |
uncertain significance |
NM_000505.4(F12):c.-25G>A |
single nucleotide variant |
Factor XII deficiency disease [RCV000392086]|Hereditary angioedema type 3 [RCV000344877] |
Chr5:177409552 [GRCh38] Chr5:176836553 [GRCh37] Chr5:5q35.3 |
uncertain significance |
NM_003052.5(SLC34A1):c.*361T>C |
single nucleotide variant |
Factor XII deficiency disease [RCV000312189]|Hereditary angioneurotic edema [RCV000406005]|Hypophosphatemic nephrolithiasis/osteoporosis 1 [RCV001156139]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000385590] |
Chr5:177398647 [GRCh38] Chr5:176825648 [GRCh37] Chr5:5q35.3 |
benign|likely benign |
NM_000505.3(F12):c.-57G>C |
single nucleotide variant |
Factor XII deficiency disease [RCV000317529]|Hereditary angioneurotic edema [RCV000372080]|not provided [RCV001528482] |
Chr5:177409584 [GRCh38] Chr5:176836585 [GRCh37] Chr5:5q35.3 |
likely benign |
NM_003052.5(SLC34A1):c.1635C>T (p.Gly545=) |
single nucleotide variant |
Factor XII deficiency disease [RCV000326709]|Hereditary angioneurotic edema [RCV000384048]|Hypophosphatemic nephrolithiasis/osteoporosis 1 [RCV001152237]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000341697]|not provided [RCV000956355] |
Chr5:177398001 [GRCh38] Chr5:176825002 [GRCh37] Chr5:5q35.3 |
benign |
NM_000505.4(F12):c.1272G>C (p.Thr424=) |
single nucleotide variant |
Factor XII deficiency disease [RCV000390084]|Hereditary angioedema type 3 [RCV001153637]|Hereditary angioneurotic edema [RCV000339217]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000330431]|not provided [RCV000861570] |
Chr5:177403596 [GRCh38] Chr5:176830597 [GRCh37] Chr5:5q35.3 |
benign|likely benign |
NM_000505.4(F12):c.630C>T (p.Asp210=) |
single nucleotide variant |
Factor XII deficiency disease [RCV000305424]|Hereditary angioedema type 3 [RCV000407965] |
Chr5:177404814 [GRCh38] Chr5:176831815 [GRCh37] Chr5:5q35.3 |
uncertain significance |
NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys) |
single nucleotide variant |
Factor XII deficiency disease [RCV000269350]|Hereditary angioneurotic edema [RCV000389488]|Hypophosphatemic nephrolithiasis/osteoporosis 1 [RCV001152236]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000305499]|not provided [RCV001360527] |
Chr5:177397849 [GRCh38] Chr5:176824850 [GRCh37] Chr5:5q35.3 |
benign|likely benign|uncertain significance |
NM_000505.4(F12):c.1299C>T (p.Asn433=) |
single nucleotide variant |
Factor XII deficiency disease [RCV000284138]|Hereditary angioedema type 3 [RCV001152355]|Hereditary angioneurotic edema [RCV000378378]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000275367]|not provided [RCV000861740] |
Chr5:177403569 [GRCh38] Chr5:176830570 [GRCh37] Chr5:5q35.3 |
benign|likely benign |
NM_003052.5(SLC34A1):c.*485G>A |
single nucleotide variant |
Factor XII deficiency disease [RCV000369193]|Hereditary angioneurotic edema [RCV000276999]|Hypophosphatemic nephrolithiasis/osteoporosis 1 [RCV001157825]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000327698] |
Chr5:177398771 [GRCh38] Chr5:176825772 [GRCh37] Chr5:5q35.3 |
benign|likely benign |
NM_000505.4(F12):c.1251-7C>T |
single nucleotide variant |
Factor XII deficiency disease [RCV000280606]|Hereditary angioedema type 3 [RCV001153638]|Hereditary angioneurotic edema [RCV000336347]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000357198] |
Chr5:177403624 [GRCh38] Chr5:176830625 [GRCh37] Chr5:5q35.3 |
likely benign |
NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=) |
single nucleotide variant |
Factor XII deficiency disease [RCV000286248]|Hereditary angioneurotic edema [RCV000378335]|Hypophosphatemic nephrolithiasis/osteoporosis 1 [RCV001152239]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000302184]|not provided [RCV002058526] |
Chr5:177398085 [GRCh38] Chr5:176825086 [GRCh37] Chr5:5q35.3 |
benign|likely benign |
NM_000505.3(F12):c.-62C>T |
single nucleotide variant |
Factor XII deficiency disease [RCV000286884]|Hereditary angioneurotic edema [RCV000323254] |
Chr5:177409589 [GRCh38] Chr5:176836590 [GRCh37] Chr5:5q35.3 |
likely benign |
NM_000505.4(F12):c.1342C>T (p.Arg448Cys) |
single nucleotide variant |
Factor XII deficiency disease [RCV000342441]|Hereditary angioedema type 3 [RCV001152354]|Hereditary angioneurotic edema [RCV000287521]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000363488]|not provided [RCV002061277] |
Chr5:177403526 [GRCh38] Chr5:176830527 [GRCh37] Chr5:5q35.3 |
benign|likely benign |
NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr) |
single nucleotide variant |
Factor XII deficiency disease [RCV000340024]|Hereditary angioneurotic edema [RCV000292092]|Hypophosphatemic nephrolithiasis/osteoporosis 1 [RCV001152238]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000392789]|not provided [RCV001512358]|not specified [RCV001702436] |
Chr5:177398068 [GRCh38] Chr5:176825069 [GRCh37] Chr5:5q35.3 |
benign|likely benign |
NM_003052.5(SLC34A1):c.*179G>A |
single nucleotide variant |
Factor XII deficiency disease [RCV000402942]|Hereditary angioneurotic edema [RCV000343493]|Hypophosphatemic nephrolithiasis/osteoporosis 1 [RCV001153521]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000297393] |
Chr5:177398465 [GRCh38] Chr5:176825466 [GRCh37] Chr5:5q35.3 |
benign|likely benign |
NM_003052.5(SLC34A1):c.*202A>C |
single nucleotide variant |
Factor XII deficiency disease [RCV000299097]|Hereditary angioneurotic edema [RCV000337844]|Hypophosphatemic nephrolithiasis/osteoporosis 1 [RCV001153523]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000370669]|not provided [RCV001692015] |
Chr5:177398488 [GRCh38] Chr5:176825489 [GRCh37] Chr5:5q35.3 |
benign |
NM_000505.4(F12):c.120C>T (p.Leu40=) |
single nucleotide variant |
Factor XII deficiency disease [RCV001152535]|Hereditary angioedema type 3 [RCV001152536] |
Chr5:177406057 [GRCh38] Chr5:176833058 [GRCh37] Chr5:5q35.3 |
benign|uncertain significance |
GRCh37/hg19 5q35.2-35.3(chr5:176274007-180719789)x1 |
copy number loss |
See cases [RCV000447018] |
Chr5:176274007..180719789 [GRCh37] Chr5:5q35.2-35.3 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) |
copy number gain |
See cases [RCV000510723] |
Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5q35.2-35.3(chr5:175722788-177423091)x3 |
copy number gain |
See cases [RCV000445774] |
Chr5:175722788..177423091 [GRCh37] Chr5:5q35.2-35.3 |
pathogenic |
GRCh37/hg19 5q35.2-35.3(chr5:176505173-178230923)x1 |
copy number loss |
See cases [RCV000445817] |
Chr5:176505173..178230923 [GRCh37] Chr5:5q35.2-35.3 |
pathogenic |
GRCh37/hg19 5q35.2-35.3(chr5:174427052-180719789)x1 |
copy number loss |
See cases [RCV000448611] |
Chr5:174427052..180719789 [GRCh37] Chr5:5q35.2-35.3 |
pathogenic |
GRCh37/hg19 5q35.2-35.3(chr5:175601473-180100378)x1 |
copy number loss |
See cases [RCV000448793] |
Chr5:175601473..180100378 [GRCh37] Chr5:5q35.2-35.3 |
pathogenic |
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 |
copy number gain |
See cases [RCV000448245] |
Chr5:106716357..180687338 [GRCh37] Chr5:5q21.3-35.3 |
pathogenic |
GRCh37/hg19 5q35.1-35.3(chr5:171396359-180719789)x3 |
copy number gain |
See cases [RCV000448458] |
Chr5:171396359..180719789 [GRCh37] Chr5:5q35.1-35.3 |
pathogenic |
NM_000505.4(F12):c.894_911dup (p.Gln300_Thr305dup) |
duplication |
Hereditary angioedema type 3 [RCV000456124] |
Chr5:177404302..177404303 [GRCh38] Chr5:176831303..176831304 [GRCh37] Chr5:5q35.3 |
pathogenic |
GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3 |
copy number gain |
See cases [RCV000512068] |
Chr5:172031248..180719789 [GRCh37] Chr5:5q35.1-35.3 |
pathogenic |
NM_000505.4(F12):c.971_1018+24del |
deletion |
Hereditary angioedema type 3 [RCV000510138]|not provided [RCV001783009] |
Chr5:177404172..177404243 [GRCh38] Chr5:176831173..176831244 [GRCh37] Chr5:5q35.3 |
pathogenic|likely pathogenic |
GRCh37/hg19 5q35.2-35.3(chr5:175438045-177392885)x1 |
copy number loss |
See cases [RCV000511974] |
Chr5:175438045..177392885 [GRCh37] Chr5:5q35.2-35.3 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 |
copy number gain |
See cases [RCV000512039] |
Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3 |
copy number gain |
See cases [RCV000511393] |
Chr5:175570677..177439550 [GRCh37] Chr5:5q35.2-35.3 |
pathogenic |
GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1 |
copy number loss |
See cases [RCV000510785] |
Chr5:175570677..180719789 [GRCh37] Chr5:5q35.2-35.3 |
pathogenic |
GRCh37/hg19 5q35.2-35.3(chr5:175570678-177437340)x1 |
copy number loss |
See cases [RCV000512405] |
Chr5:175570678..177437340 [GRCh37] Chr5:5q35.2-35.3 |
pathogenic |
Single allele |
duplication |
not provided [RCV000677989] |
Chr5:176798338..177423150 [GRCh37] Chr5:5q35.3 |
uncertain significance |
GRCh37/hg19 5q35.2-35.3(chr5:175438045-177481250)x1 |
copy number loss |
not provided [RCV000682614] |
Chr5:175438045..177481250 [GRCh37] Chr5:5q35.2-35.3 |
pathogenic |
GRCh37/hg19 5q35.2-35.3(chr5:176044976-177023859)x1 |
copy number loss |
not provided [RCV000682618] |
Chr5:176044976..177023859 [GRCh37] Chr5:5q35.2-35.3 |
pathogenic |
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177436413)x1 |
copy number loss |
not provided [RCV000682615] |
Chr5:175570677..177436413 [GRCh37] Chr5:5q35.2-35.3 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 |
copy number gain |
not provided [RCV000744323] |
Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 |
copy number gain |
not provided [RCV000744317] |
Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5q33.2-35.3(chr5:155344802-180693344)x3 |
copy number gain |
not provided [RCV000745284] |
Chr5:155344802..180693344 [GRCh37] Chr5:5q33.2-35.3 |
pathogenic |
GRCh37/hg19 5q35.2-35.3(chr5:174832617-180693344)x3 |
copy number gain |
not provided [RCV000745336] |
Chr5:174832617..180693344 [GRCh37] Chr5:5q35.2-35.3 |
pathogenic |
GRCh37/hg19 5q35.2-35.3(chr5:175346223-177423236)x1 |
copy number loss |
not provided [RCV000745338] |
Chr5:175346223..177423236 [GRCh37] Chr5:5q35.2-35.3 |
pathogenic |
GRCh37/hg19 5q35.2-35.3(chr5:175433876-177441189)x1 |
copy number loss |
not provided [RCV000745339] |
Chr5:175433876..177441189 [GRCh37] Chr5:5q35.2-35.3 |
pathogenic |
NM_000505.4(F12):c.800+8G>A |
single nucleotide variant |
not provided [RCV000861857] |
Chr5:177404491 [GRCh38] Chr5:176831492 [GRCh37] Chr5:5q35.3 |
benign |
NM_000505.4(F12):c.1018+19del |
deletion |
Hereditary angioedema type 3 [RCV001702132]|not provided [RCV001612348] |
Chr5:177404177 [GRCh38] Chr5:176831178 [GRCh37] Chr5:5q35.3 |
benign |
GRCh37/hg19 5q35.2-35.3(chr5:176305543-177422876) |
copy number gain |
not provided [RCV000767712] |
Chr5:176305543..177422876 [GRCh37] Chr5:5q35.2-35.3 |
pathogenic |
GRCh37/hg19 5q35.3(chr5:176732536-177260046)x1 |
copy number loss |
not provided [RCV000845642] |
Chr5:176732536..177260046 [GRCh37] Chr5:5q35.3 |
uncertain significance |
GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937) |
copy number gain |
not provided [RCV000767711] |
Chr5:174990352..180690937 [GRCh37] Chr5:5q35.2-35.3 |
pathogenic |
GRCh37/hg19 5q35.3(chr5:176643613-179085551)x3 |
copy number gain |
not provided [RCV000846590] |
Chr5:176643613..179085551 [GRCh37] Chr5:5q35.3 |
uncertain significance |
GRCh37/hg19 5q35.3(chr5:176774402-177064884)x4 |
copy number gain |
not provided [RCV000848335] |
Chr5:176774402..177064884 [GRCh37] Chr5:5q35.3 |
uncertain significance |
NM_000505.4(F12):c.129C>T (p.Thr43=) |
single nucleotide variant |
Factor XII deficiency disease [RCV001158013]|Hereditary angioedema type 3 [RCV001152534] |
Chr5:177406048 [GRCh38] Chr5:176833049 [GRCh37] Chr5:5q35.3 |
likely benign|uncertain significance |
Single allele |
deletion |
Marfanoid habitus and intellectual disability [RCV000851176] |
Chr5:175875407..177036017 [GRCh37] Chr5:5q35.2-35.3 |
likely pathogenic |
NM_000505.4(F12):c.1018+11G>T |
single nucleotide variant |
Factor XII deficiency disease [RCV001152451]|Hereditary angioedema type 3 [RCV001152450] |
Chr5:177404185 [GRCh38] Chr5:176831186 [GRCh37] Chr5:5q35.3 |
benign|uncertain significance |
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3 |
copy number gain |
not provided [RCV000846148] |
Chr5:175570677..177439550 [GRCh37] Chr5:5q35.2-35.3 |
pathogenic |
NM_000505.4(F12):c.293G>A (p.Cys98Tyr) |
single nucleotide variant |
Factor XII deficiency disease [RCV001158008]|Hereditary angioedema type 3 [RCV001158009] |
Chr5:177405427 [GRCh38] Chr5:176832428 [GRCh37] Chr5:5q35.3 |
likely benign|uncertain significance |
NM_000505.4(F12):c.116-194T>C |
single nucleotide variant |
not provided [RCV001666816] |
Chr5:177406255 [GRCh38] Chr5:176833256 [GRCh37] Chr5:5q35.3 |
benign |
NM_000505.4(F12):c.116-244T>C |
single nucleotide variant |
not provided [RCV001645985] |
Chr5:177406305 [GRCh38] Chr5:176833306 [GRCh37] Chr5:5q35.3 |
benign |
NM_000505.4(F12):c.58-180C>G |
single nucleotide variant |
not provided [RCV001650810] |
Chr5:177409283 [GRCh38] Chr5:176836284 [GRCh37] Chr5:5q35.3 |
benign |
NM_000505.4(F12):c.144C>T (p.His48=) |
single nucleotide variant |
not provided [RCV000940749] |
Chr5:177406033 [GRCh38] Chr5:176833034 [GRCh37] Chr5:5q35.3 |
likely benign |
NM_000505.4(F12):c.757G>C (p.Glu253Gln) |
single nucleotide variant |
not provided [RCV000862881] |
Chr5:177404542 [GRCh38] Chr5:176831543 [GRCh37] Chr5:5q35.3 |
likely benign |
NM_000505.4(F12):c.286+6A>G |
single nucleotide variant |
Factor XII deficiency disease [RCV001158010]|Hereditary angioedema type 3 [RCV001158011] |
Chr5:177405729 [GRCh38] Chr5:176832730 [GRCh37] Chr5:5q35.3 |
uncertain significance |
NM_000505.4(F12):c.57+170T>C |
single nucleotide variant |
not provided [RCV001669412] |
Chr5:177409301 [GRCh38] Chr5:176836302 [GRCh37] Chr5:5q35.3 |
benign |
NM_000505.4(F12):c.530C>T (p.Ala177Val) |
single nucleotide variant |
Hereditary angioedema type 3 [RCV001263429] |
Chr5:177404914 [GRCh38] Chr5:176831915 [GRCh37] Chr5:5q35.3 |
benign |
NM_000505.4(F12):c.1530G>C (p.Glu510Asp) |
single nucleotide variant |
Hereditary angioedema type 3 [RCV001263430] |
Chr5:177403255 [GRCh38] Chr5:176830256 [GRCh37] Chr5:5q35.3 |
uncertain significance |
NM_000505.4(F12):c.1768T>G (p.Cys590Gly) |
single nucleotide variant |
Hereditary angioedema type 3 [RCV001263431] |
Chr5:177402372 [GRCh38] Chr5:176829373 [GRCh37] Chr5:5q35.3 |
uncertain significance |
NM_000505.4(F12):c.41T>C (p.Leu14Ser) |
single nucleotide variant |
Hereditary angioedema type 3 [RCV001263432]|not provided [RCV002069380] |
Chr5:177409487 [GRCh38] Chr5:176836488 [GRCh37] Chr5:5q35.3 |
likely benign |
NM_000505.4(F12):c.1599A>G (p.Ser533=) |
single nucleotide variant |
Hereditary angioedema type 3 [RCV001263433] |
Chr5:177402631 [GRCh38] Chr5:176829632 [GRCh37] Chr5:5q35.3 |
uncertain significance |
GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3 |
copy number gain |
5q35 microduplication syndrome [RCV001263227] |
Chr5:170805664..180719789 [GRCh37] Chr5:5q35.1-35.3 |
pathogenic |
NM_000505.4(F12):c.530-65A>G |
single nucleotide variant |
not provided [RCV001656794] |
Chr5:177404979 [GRCh38] Chr5:176831980 [GRCh37] Chr5:5q35.3 |
benign |
NM_000505.4(F12):c.116-241A>G |
single nucleotide variant |
not provided [RCV001686435] |
Chr5:177406302 [GRCh38] Chr5:176833303 [GRCh37] Chr5:5q35.3 |
benign |
NM_000505.4(F12):c.116-255G>T |
single nucleotide variant |
not provided [RCV001621657] |
Chr5:177406316 [GRCh38] Chr5:176833317 [GRCh37] Chr5:5q35.3 |
benign |
NM_000505.4(F12):c.1388-35C>T |
single nucleotide variant |
not provided [RCV001658707] |
Chr5:177403432 [GRCh38] Chr5:176830433 [GRCh37] Chr5:5q35.3 |
benign |
NM_000505.4(F12):c.*86C>T |
single nucleotide variant |
Factor XII deficiency disease [RCV001157828]|Hereditary angioedema type 3 [RCV001157827] |
Chr5:177402206 [GRCh38] Chr5:176829207 [GRCh37] Chr5:5q35.3 |
uncertain significance |
NM_000505.4(F12):c.1387+4C>G |
single nucleotide variant |
Factor XII deficiency disease [RCV001152352]|Hereditary angioedema type 3 [RCV001152353] |
Chr5:177403477 [GRCh38] Chr5:176830478 [GRCh37] Chr5:5q35.3 |
likely benign|uncertain significance |
NM_000505.4(F12):c.957G>C (p.Gln319His) |
single nucleotide variant |
Factor XII deficiency disease [RCV001152453]|Hereditary angioedema type 3 [RCV001152452] |
Chr5:177404257 [GRCh38] Chr5:176831258 [GRCh37] Chr5:5q35.3 |
uncertain significance |
NM_000505.4(F12):c.30G>A (p.Leu10=) |
single nucleotide variant |
Factor XII deficiency disease [RCV001152537]|Hereditary angioedema type 3 [RCV001152538] |
Chr5:177409498 [GRCh38] Chr5:176836499 [GRCh37] Chr5:5q35.3 |
uncertain significance |
NM_000505.4(F12):c.1251-9C>A |
single nucleotide variant |
Factor XII deficiency disease [RCV001156237]|Hereditary angioedema type 3 [RCV001153640] |
Chr5:177403626 [GRCh38] Chr5:176830627 [GRCh37] Chr5:5q35.3 |
benign|uncertain significance |
NM_000505.4(F12):c.529+23G>A |
single nucleotide variant |
not provided [RCV001709250] |
Chr5:177405031 [GRCh38] Chr5:176832032 [GRCh37] Chr5:5q35.3 |
benign |
NM_000505.4(F12):c.*9G>A |
single nucleotide variant |
Factor XII deficiency disease [RCV001157829]|Hereditary angioedema type 3 [RCV001152349] |
Chr5:177402283 [GRCh38] Chr5:176829284 [GRCh37] Chr5:5q35.3 |
uncertain significance |
NM_000505.4(F12):c.1704G>A (p.Val568=) |
single nucleotide variant |
Factor XII deficiency disease [RCV001152350]|Hereditary angioedema type 3 [RCV001152351] |
Chr5:177402436 [GRCh38] Chr5:176829437 [GRCh37] Chr5:5q35.3 |
benign|uncertain significance |
NM_000505.4(F12):c.1142G>A (p.Arg381His) |
single nucleotide variant |
Factor XII deficiency disease [RCV001156239]|Hereditary angioedema type 3 [RCV001156238] |
Chr5:177403967 [GRCh38] Chr5:176830968 [GRCh37] Chr5:5q35.3 |
uncertain significance |
NM_000505.4(F12):c.1018+14G>T |
single nucleotide variant |
Factor XII deficiency disease [RCV001157916]|Hereditary angioedema type 3 [RCV001157915] |
Chr5:177404182 [GRCh38] Chr5:176831183 [GRCh37] Chr5:5q35.3 |
uncertain significance |
GRCh37/hg19 5q35.2-35.3(chr5:175346695-177469711)x1 |
copy number loss |
Sotos syndrome [RCV001252953] |
Chr5:175346695..177469711 [GRCh37] Chr5:5q35.2-35.3 |
pathogenic |
GRCh37/hg19 5q35.2-35.3(chr5:175394616-177436413)x3 |
copy number gain |
not provided [RCV001258713] |
Chr5:175394616..177436413 [GRCh37] Chr5:5q35.2-35.3 |
pathogenic |
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177114151)x3 |
copy number gain |
not provided [RCV001258712] |
Chr5:175570677..177114151 [GRCh37] Chr5:5q35.2-35.3 |
pathogenic |
NM_000505.4(F12):c.1668del (p.Asp557fs) |
deletion |
not provided [RCV001339970] |
Chr5:177402562 [GRCh38] Chr5:176829563 [GRCh37] Chr5:5q35.3 |
uncertain significance |
NM_000505.4(F12):c.1019-28T>C |
single nucleotide variant |
Hereditary angioedema type 3 [RCV001703013]|not provided [RCV001539033] |
Chr5:177404118 [GRCh38] Chr5:176831119 [GRCh37] Chr5:5q35.3 |
benign |
NM_000505.4(F12):c.1018+19dup |
duplication |
not provided [RCV001732984] |
Chr5:177404176..177404177 [GRCh38] Chr5:176831177..176831178 [GRCh37] Chr5:5q35.3 |
likely benign |
GRCh37/hg19 5q35.2-35.3(chr5:176497464-177776599)x3 |
copy number gain |
not provided [RCV001832980] |
Chr5:176497464..177776599 [GRCh37] Chr5:5q35.2-35.3 |
pathogenic |
NM_000505.4(F12):c.1681-1G>C |
single nucleotide variant |
not provided [RCV001783232] |
Chr5:177402460 [GRCh38] Chr5:176829461 [GRCh37] Chr5:5q35.3 |
pathogenic |
NC_000005.9:g.(?_176047812)_(177422934_?)del |
deletion |
Ehlers-Danlos syndrome progeroid type [RCV001931790] |
Chr5:176047812..177422934 [GRCh37] Chr5:5q35.2-35.3 |
uncertain significance |
NM_000505.4(F12):c.923C>A (p.Ser308Tyr) |
single nucleotide variant |
not provided [RCV002014074] |
Chr5:177404291 [GRCh38] Chr5:176831292 [GRCh37] Chr5:5q35.3 |
likely benign |
NM_000505.4(F12):c.1013C>T (p.Pro338Leu) |
single nucleotide variant |
not provided [RCV001992309] |
Chr5:177404201 [GRCh38] Chr5:176831202 [GRCh37] Chr5:5q35.3 |
uncertain significance |
NC_000005.9:g.(?_176047812)_(177422934_?)dup |
duplication |
Ehlers-Danlos syndrome progeroid type [RCV001883344]|not provided [RCV001879660] |
Chr5:176047812..177422934 [GRCh37] Chr5:5q35.2-35.3 |
uncertain significance |
NM_000505.4(F12):c.800+1G>A |
single nucleotide variant |
not provided [RCV001977459] |
Chr5:177404498 [GRCh38] Chr5:176831499 [GRCh37] Chr5:5q35.3 |
likely pathogenic |
NM_000505.4(F12):c.346G>A (p.Gly116Ser) |
single nucleotide variant |
not provided [RCV001931006] |
Chr5:177405374 [GRCh38] Chr5:176832375 [GRCh37] Chr5:5q35.3 |
uncertain significance |