FBLN5, 483-BP DUP |
duplication |
Cutis laxa, autosomal dominant 2 [RCV000005810] |
Chr14:14q32.1 |
pathogenic |
NM_006329.4(FBLN5):c.620-7del |
deletion |
not provided [RCV001571787] |
Chr14:91887319 [GRCh38] Chr14:92353663 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.679T>C (p.Ser227Pro) |
single nucleotide variant |
Cutis laxa, autosomal dominant [RCV003447068]|Cutis laxa, autosomal recessive, type 1A [RCV000005809] |
Chr14:91887253 [GRCh38] Chr14:92353597 [GRCh37] Chr14:14q32.12 |
pathogenic|uncertain significance |
NM_006329.4(FBLN5):c.178G>C (p.Val60Leu) |
single nucleotide variant |
Age-related macular degeneration [RCV003447069]|Macular degeneration, age-related, 3 [RCV000005811]|not provided [RCV001851678] |
Chr14:91937148 [GRCh38] Chr14:92403492 [GRCh37] Chr14:14q32.12 |
pathogenic|uncertain significance |
NM_006329.4(FBLN5):c.212G>A (p.Arg71Gln) |
single nucleotide variant |
Age-related macular degeneration [RCV003447070]|Macular degeneration, age-related, 3 [RCV000005812]|not provided [RCV001851679] |
Chr14:91937114 [GRCh38] Chr14:92403458 [GRCh37] Chr14:14q32.12 |
pathogenic|uncertain significance |
NM_006329.4(FBLN5):c.259C>T (p.Pro87Ser) |
single nucleotide variant |
Age-related macular degeneration [RCV003447071]|Macular degeneration, age-related, 3 [RCV000005813] |
Chr14:91937067 [GRCh38] Chr14:92403411 [GRCh37] Chr14:14q32.12 |
pathogenic|uncertain significance |
NM_006329.4(FBLN5):c.506T>C (p.Ile169Thr) |
single nucleotide variant |
Age-related macular degeneration [RCV003447072]|Macular degeneration, age-related, 3 [RCV000005814] |
Chr14:91891334 [GRCh38] Chr14:92357678 [GRCh37] Chr14:14q32.12 |
pathogenic|uncertain significance |
NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp) |
single nucleotide variant |
Age-related macular degeneration [RCV003447073]|Cutis laxa [RCV001119789]|Macular degeneration, age-related, 3 [RCV000005815]|Macular degeneration, age-related, 3 [RCV002490323]|See cases [RCV002251883]|not provided [RCV001577844] |
Chr14:91877621 [GRCh38] Chr14:92343965 [GRCh37] Chr14:14q32.12 |
pathogenic|uncertain significance |
NM_006329.4(FBLN5):c.1087G>A (p.Ala363Thr) |
single nucleotide variant |
Age-related macular degeneration [RCV003447074]|Macular degeneration, age-related, 3 [RCV000005816]|not provided [RCV001851680] |
Chr14:91877585 [GRCh38] Chr14:92343929 [GRCh37] Chr14:14q32.12 |
pathogenic|uncertain significance |
NM_006329.4(FBLN5):c.1235G>A (p.Gly412Glu) |
single nucleotide variant |
Age-related macular degeneration [RCV003447075]|Macular degeneration, age-related, 3 [RCV000005817]|not provided [RCV002512815] |
Chr14:91870336 [GRCh38] Chr14:92336680 [GRCh37] Chr14:14q32.12 |
pathogenic|uncertain significance |
NM_006329.4(FBLN5):c.1090G>T (p.Asp364Tyr) |
single nucleotide variant |
Cutis laxa, autosomal recessive, type 1A [RCV000020638] |
Chr14:91877582 [GRCh38] Chr14:92343926 [GRCh37] Chr14:14q32.12 |
benign|not provided |
NM_006329.4(FBLN5):c.1171G>T (p.Glu391Ter) |
single nucleotide variant |
Cutis laxa, autosomal dominant [RCV003447087]|Cutis laxa, autosomal recessive, type 1A [RCV000020639] |
Chr14:91877501 [GRCh38] Chr14:92343845 [GRCh37] Chr14:14q32.12 |
pathogenic|uncertain significance |
NM_006329.3(FBLN5):c.380-9061_873dup |
duplication |
Cutis laxa, autosomal dominant 2 [RCV000005810] |
Chr14:91881408..91904133 [GRCh38] Chr14:92347752..92370477 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_006329.4(FBLN5):c.604G>A (p.Gly202Arg) |
single nucleotide variant |
Cutis laxa [RCV000375520]|Cutis laxa, autosomal dominant [RCV003447088]|Cutis laxa, autosomal recessive, type 1A [RCV000020641]|Macular degeneration, age-related, 3 [RCV000316304]|not provided [RCV000427840] |
Chr14:91891236 [GRCh38] Chr14:92357580 [GRCh37] Chr14:14q32.12 |
pathogenic|likely benign|uncertain significance|not provided |
NM_006329.4(FBLN5):c.649T>C (p.Cys217Arg) |
single nucleotide variant |
Cutis laxa, autosomal dominant [RCV003447089]|Cutis laxa, autosomal recessive, type 1A [RCV000020642] |
Chr14:91887283 [GRCh38] Chr14:92353627 [GRCh37] Chr14:14q32.12 |
pathogenic|uncertain significance |
GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1 |
copy number loss |
See cases [RCV000051551] |
Chr14:90255156..95274696 [GRCh38] Chr14:90721500..95741033 [GRCh37] Chr14:89791253..94810786 [NCBI36] Chr14:14q32.11-32.13 |
pathogenic |
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 |
copy number gain |
See cases [RCV000052295] |
Chr14:86094030..106832642 [GRCh38] Chr14:86560374..107240869 [GRCh37] Chr14:85630127..106311914 [NCBI36] Chr14:14q31.3-32.33 |
pathogenic |
GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|See cases [RCV000052293] |
Chr14:72787506..99596719 [GRCh38] Chr14:73254214..100063056 [GRCh37] Chr14:72323967..99132809 [NCBI36] Chr14:14q24.2-32.2 |
pathogenic |
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 |
copy number gain |
See cases [RCV000052294] |
Chr14:83912345..106855405 [GRCh38] Chr14:84378689..107263620 [GRCh37] Chr14:83448442..106334665 [NCBI36] Chr14:14q31.2-32.33 |
pathogenic |
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3 |
copy number gain |
See cases [RCV000052296] |
Chr14:91455861..106832642 [GRCh38] Chr14:91922205..107240869 [GRCh37] Chr14:90991958..106311914 [NCBI36] Chr14:14q32.12-32.33 |
pathogenic |
NM_006329.3(FBLN5):c.1158G>A (p.Gly386=) |
single nucleotide variant |
Malignant melanoma [RCV000070654] |
Chr14:91877514 [GRCh38] Chr14:92343858 [GRCh37] Chr14:91413611 [NCBI36] Chr14:14q32.12 |
not provided |
NM_006329.3(FBLN5):c.1098C>T (p.Phe366=) |
single nucleotide variant |
Malignant melanoma [RCV000070655] |
Chr14:91877574 [GRCh38] Chr14:92343918 [GRCh37] Chr14:91413671 [NCBI36] Chr14:14q32.12 |
not provided |
NM_006329.4(FBLN5):c.731A>G (p.His244Arg) |
single nucleotide variant |
not provided [RCV001813047] |
Chr14:91887201 [GRCh38] Chr14:92353545 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.143C>T (p.Thr48Ile) |
single nucleotide variant |
Age-related macular degeneration [RCV003447321]|Cutis laxa, autosomal dominant 2 [RCV001331565]|not provided [RCV001865743] |
Chr14:91937183 [GRCh38] Chr14:92403527 [GRCh37] Chr14:14q32.12 |
uncertain significance |
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 |
copy number gain |
See cases [RCV000134000] |
Chr14:73655772..106879298 [GRCh38] Chr14:74122475..107287505 [GRCh37] Chr14:73192228..106358550 [NCBI36] Chr14:14q24.3-32.33 |
pathogenic |
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 |
copy number gain |
See cases [RCV000135543] |
Chr14:20151149..106855263 [GRCh38] Chr14:20619308..107263478 [GRCh37] Chr14:19689148..106334523 [NCBI36] Chr14:14q11.2-32.33 |
pathogenic |
NM_006329.4(FBLN5):c.376G>A (p.Val126Met) |
single nucleotide variant |
Charcot-Marie-Tooth disease, demyelinating, IIA 1H [RCV001843304]|Cutis laxa [RCV000405354]|Macular degeneration, age-related, 3 [RCV000202603]|not provided [RCV000584853] |
Chr14:91936950 [GRCh38] Chr14:92403294 [GRCh37] Chr14:14q32.12 |
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease, demyelinating, IIA 1H [RCV001843303]|Cutis laxa [RCV001121879]|Cutis laxa, autosomal recessive, type 1A [RCV001249315]|Hereditary sensorimotor neuropathy with hyperelastic skin [RCV003447125]|Macular degeneration, age-related, 3 [RCV000202614]|not provided [RCV000521928] |
Chr14:91937058 [GRCh38] Chr14:92403402 [GRCh37] Chr14:14q32.12 |
pathogenic|benign|likely benign|uncertain significance|not provided |
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 |
copy number gain |
See cases [RCV000138230] |
Chr14:77222795..106879298 [GRCh38] Chr14:77689138..107287505 [GRCh37] Chr14:76758891..106358550 [NCBI36] Chr14:14q24.3-32.33 |
pathogenic |
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 |
copy number gain |
See cases [RCV000143373] |
Chr14:20043514..106877229 [GRCh38] Chr14:20511673..107285437 [GRCh37] Chr14:19581513..106356482 [NCBI36] Chr14:14q11.2-32.33 |
pathogenic |
NM_006329.4(FBLN5):c.1117C>T (p.Arg373Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease, demyelinating, IIA 1H [RCV001843302]|Hereditary sensorimotor neuropathy with hyperelastic skin [RCV003447124]|not provided [RCV000756132] |
Chr14:91877555 [GRCh38] Chr14:92343899 [GRCh37] Chr14:14q32.12 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_006329.4(FBLN5):c.945T>C (p.Ile315=) |
single nucleotide variant |
Cutis laxa [RCV000403489]|Cutis laxa, autosomal dominant 2 [RCV001701769]|Cutis laxa, autosomal recessive, type 1A [RCV001701618]|Macular degeneration, age-related, 3 [RCV000336959]|not provided [RCV002055972]|not specified [RCV000150685] |
Chr14:91881336 [GRCh38] Chr14:92347680 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.989+13G>A |
single nucleotide variant |
Cutis laxa [RCV000335950]|Macular degeneration, age-related, 3 [RCV000285676]|not provided [RCV001812121]|not specified [RCV000150690] |
Chr14:91881279 [GRCh38] Chr14:92347623 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.863-13C>T |
single nucleotide variant |
Cutis laxa [RCV000351829]|Macular degeneration, age-related, 3 [RCV000292240]|not provided [RCV001812122]|not specified [RCV000150691] |
Chr14:91881431 [GRCh38] Chr14:92347775 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.621T>C (p.Asp207=) |
single nucleotide variant |
Cutis laxa [RCV000264837]|Macular degeneration, age-related, 3 [RCV000324728]|not provided [RCV000390841] |
Chr14:91887311 [GRCh38] Chr14:92353655 [GRCh37] Chr14:14q32.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006329.4(FBLN5):c.620-8T>C |
single nucleotide variant |
Cutis laxa [RCV000261122]|Macular degeneration, age-related, 3 [RCV000360743]|not provided [RCV000883402]|not specified [RCV000218744] |
Chr14:91887320 [GRCh38] Chr14:92353664 [GRCh37] Chr14:14q32.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_006329.4(FBLN5):c.989+9C>T |
single nucleotide variant |
Cutis laxa [RCV000371742]|Macular degeneration, age-related, 3 [RCV000281897]|not provided [RCV000980663] |
Chr14:91881283 [GRCh38] Chr14:92347627 [GRCh37] Chr14:14q32.12 |
benign|likely benign|uncertain significance |
NM_006329.4(FBLN5):c.224T>C (p.Val75Ala) |
single nucleotide variant |
Cutis Laxa, Dominant/Recessive [RCV000361075]|Inborn genetic diseases [RCV002522340]|Macular degeneration [RCV000303754]|not provided [RCV001555554]|not specified [RCV000611423] |
Chr14:91937102 [GRCh38] Chr14:92403446 [GRCh37] Chr14:14q32.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006329.4(FBLN5):c.1191G>A (p.Thr397=) |
single nucleotide variant |
Cutis laxa [RCV000325555]|Macular degeneration, age-related, 3 [RCV000270558]|not provided [RCV000910443] |
Chr14:91870380 [GRCh38] Chr14:92336724 [GRCh37] Chr14:14q32.12 |
benign|likely benign|uncertain significance |
NM_006329.4(FBLN5):c.1122C>T (p.Tyr374=) |
single nucleotide variant |
Cutis laxa [RCV000384748]|Macular degeneration, age-related, 3 [RCV000271644]|not provided [RCV001705473]|not specified [RCV000440919] |
Chr14:91877550 [GRCh38] Chr14:92343894 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_006329.4(FBLN5):c.-458G>A |
single nucleotide variant |
Cutis laxa [RCV000368378]|Macular degeneration, age-related, 3 [RCV000275772] |
Chr14:91947687 [GRCh38] Chr14:92414031 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_006329.4(FBLN5):c.-152C>T |
single nucleotide variant |
Cutis laxa [RCV000333368]|Macular degeneration, age-related, 3 [RCV000273619] |
Chr14:91947381 [GRCh38] Chr14:92413725 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_006329.4(FBLN5):c.*326G>A |
single nucleotide variant |
Cutis laxa [RCV000273686]|Macular degeneration, age-related, 3 [RCV000368274] |
Chr14:91869898 [GRCh38] Chr14:92336242 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.-411A>G |
single nucleotide variant |
Cutis laxa [RCV000291673]|Macular degeneration, age-related, 3 [RCV000339513] |
Chr14:91947640 [GRCh38] Chr14:92413984 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_006329.4(FBLN5):c.*514A>G |
single nucleotide variant |
Cutis laxa [RCV000346873]|Macular degeneration, age-related, 3 [RCV000291918]|not provided [RCV001785560] |
Chr14:91869710 [GRCh38] Chr14:92336054 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_006329.4(FBLN5):c.*648G>A |
single nucleotide variant |
Cutis laxa [RCV000330737]|Macular degeneration, age-related, 3 [RCV000275616] |
Chr14:91869576 [GRCh38] Chr14:92335920 [GRCh37] Chr14:14q32.12 |
benign|likely benign|uncertain significance |
NM_006329.4(FBLN5):c.*647C>T |
single nucleotide variant |
Cutis laxa [RCV000389826]|Macular degeneration, age-related, 3 [RCV000276799] |
Chr14:91869577 [GRCh38] Chr14:92335921 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_006329.4(FBLN5):c.*363C>T |
single nucleotide variant |
Cutis laxa [RCV000298242]|Macular degeneration, age-related, 3 [RCV000334552] |
Chr14:91869861 [GRCh38] Chr14:92336205 [GRCh37] Chr14:14q32.12 |
likely benign|uncertain significance |
NM_006329.4(FBLN5):c.-9G>T |
single nucleotide variant |
Cutis Laxa, Dominant/Recessive [RCV000394112]|Macular degeneration [RCV000298039] |
Chr14:91947238 [GRCh38] Chr14:92413582 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.-57G>A |
single nucleotide variant |
Cutis laxa [RCV000352947]|Macular degeneration, age-related, 3 [RCV000262943] |
Chr14:91947286 [GRCh38] Chr14:92413630 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_006329.4(FBLN5):c.*329T>C |
single nucleotide variant |
Cutis laxa [RCV000395898]|Macular degeneration, age-related, 3 [RCV000299436] |
Chr14:91869895 [GRCh38] Chr14:92336239 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.502+15G>C |
single nucleotide variant |
Cutis laxa [RCV000280970]|Macular degeneration, age-related, 3 [RCV000331384]|not provided [RCV001812822]|not specified [RCV000616517] |
Chr14:91894935 [GRCh38] Chr14:92361279 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_006329.4(FBLN5):c.1113G>A (p.Thr371=) |
single nucleotide variant |
Cutis laxa [RCV000380081]|Macular degeneration, age-related, 3 [RCV000320794]|not provided [RCV000964339] |
Chr14:91877559 [GRCh38] Chr14:92343903 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_006329.4(FBLN5):c.*423T>C |
single nucleotide variant |
Cutis laxa [RCV000342425]|Macular degeneration, age-related, 3 [RCV000404688] |
Chr14:91869801 [GRCh38] Chr14:92336145 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_006329.4(FBLN5):c.-414C>T |
single nucleotide variant |
Cutis laxa [RCV000404509]|Macular degeneration, age-related, 3 [RCV000342843]|not provided [RCV000839553] |
Chr14:91947643 [GRCh38] Chr14:92413987 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.*775A>C |
single nucleotide variant |
Cutis laxa [RCV000355089]|Macular degeneration, age-related, 3 [RCV000259888] |
Chr14:91869449 [GRCh38] Chr14:92335793 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.*458T>C |
single nucleotide variant |
Cutis laxa [RCV000282805]|Macular degeneration, age-related, 3 [RCV000377373] |
Chr14:91869766 [GRCh38] Chr14:92336110 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.*623A>T |
single nucleotide variant |
Cutis laxa [RCV000381559]|Macular degeneration, age-related, 3 [RCV000326978]|not provided [RCV001690047] |
Chr14:91869601 [GRCh38] Chr14:92335945 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.862+12C>T |
single nucleotide variant |
Cutis laxa [RCV000307466]|Macular degeneration, age-related, 3 [RCV000395579]|not provided [RCV002061169] |
Chr14:91882942 [GRCh38] Chr14:92349286 [GRCh37] Chr14:14q32.12 |
benign|likely benign|uncertain significance |
NM_006329.4(FBLN5):c.676G>A (p.Gly226Ser) |
single nucleotide variant |
Cutis laxa [RCV000308840]|Macular degeneration, age-related, 3 [RCV000358898]|not provided [RCV001850661] |
Chr14:91887256 [GRCh38] Chr14:92353600 [GRCh37] Chr14:14q32.12 |
benign|uncertain significance |
NM_006329.4(FBLN5):c.-441del |
deletion |
Cutis Laxa, Dominant/Recessive [RCV000311405]|Macular degeneration [RCV000397499]|not provided [RCV001533948] |
Chr14:91947670 [GRCh38] Chr14:92414014 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.*98G>A |
single nucleotide variant |
Cutis laxa [RCV000369502]|Macular degeneration, age-related, 3 [RCV000314777] |
Chr14:91870126 [GRCh38] Chr14:92336470 [GRCh37] Chr14:14q32.12 |
likely benign|uncertain significance |
NM_006329.4(FBLN5):c.714T>A (p.Leu238=) |
single nucleotide variant |
Cutis laxa [RCV000362359]|Macular degeneration, age-related, 3 [RCV000395642]|not provided [RCV000916009] |
Chr14:91887218 [GRCh38] Chr14:92353562 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_006329.4(FBLN5):c.-139C>T |
single nucleotide variant |
Cutis laxa [RCV000318082]|Macular degeneration, age-related, 3 [RCV000368194] |
Chr14:91947368 [GRCh38] Chr14:92413712 [GRCh37] Chr14:14q32.12 |
likely benign|uncertain significance |
NM_006329.4(FBLN5):c.1341A>G (p.Pro447=) |
single nucleotide variant |
not provided [RCV000917495]|not specified [RCV001729659] |
Chr14:91870230 [GRCh38] Chr14:92336574 [GRCh37] Chr14:14q32.12 |
benign|likely benign |
NM_006329.4(FBLN5):c.251A>G (p.Tyr84Cys) |
single nucleotide variant |
Cutis laxa [RCV000348011]|Macular degeneration, age-related, 3 [RCV000394125] |
Chr14:91937075 [GRCh38] Chr14:92403419 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.-413C>T |
single nucleotide variant |
Cutis laxa [RCV000285594]|Macular degeneration, age-related, 3 [RCV000377849] |
Chr14:91947642 [GRCh38] Chr14:92413986 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.388G>A (p.Glu130Lys) |
single nucleotide variant |
Cutis laxa [RCV000386387]|Macular degeneration, age-related, 3 [RCV000296650] |
Chr14:91895064 [GRCh38] Chr14:92361408 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.-428G>C |
single nucleotide variant |
Cutis laxa [RCV000298567]|Macular degeneration, age-related, 3 [RCV000336918] |
Chr14:91947657 [GRCh38] Chr14:92414001 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.129T>C (p.Ile43=) |
single nucleotide variant |
not specified [RCV000605106] |
Chr14:91937197 [GRCh38] Chr14:92403541 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.-382C>G |
single nucleotide variant |
Cutis laxa [RCV000387952]|Macular degeneration, age-related, 3 [RCV000288201] |
Chr14:91947611 [GRCh38] Chr14:92413955 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.-389C>A |
single nucleotide variant |
Cutis laxa [RCV000383684]|Macular degeneration, age-related, 3 [RCV000326798] |
Chr14:91947618 [GRCh38] Chr14:92413962 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.*653G>A |
single nucleotide variant |
Cutis laxa [RCV000300990]|Macular degeneration, age-related, 3 [RCV000355807] |
Chr14:91869571 [GRCh38] Chr14:92335915 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.195G>C (p.Gly65=) |
single nucleotide variant |
not provided [RCV002531563]|not specified [RCV000607018] |
Chr14:91937131 [GRCh38] Chr14:92403475 [GRCh37] Chr14:14q32.12 |
likely benign|uncertain significance |
NM_006329.4(FBLN5):c.255_266del (p.Thr86_Ser89del) |
deletion |
not provided [RCV002524659]|not specified [RCV000413803] |
Chr14:91937060..91937071 [GRCh38] Chr14:92403404..92403415 [GRCh37] Chr14:14q32.12 |
uncertain significance |
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 |
copy number gain |
See cases [RCV000446256] |
Chr14:19794561..107234280 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
NM_006329.4(FBLN5):c.1185+18G>A |
single nucleotide variant |
not specified [RCV000427998] |
Chr14:91877469 [GRCh38] Chr14:92343813 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1086C>T (p.Pro362=) |
single nucleotide variant |
not provided [RCV002059978]|not specified [RCV000434996] |
Chr14:91877586 [GRCh38] Chr14:92343930 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1228A>G (p.Ile410Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003168677]|not provided [RCV002522387]|not specified [RCV000442080] |
Chr14:91870343 [GRCh38] Chr14:92336687 [GRCh37] Chr14:14q32.12 |
likely benign|uncertain significance |
NM_006329.4(FBLN5):c.1062C>T (p.Asp354=) |
single nucleotide variant |
not provided [RCV001696838] |
Chr14:91877610 [GRCh38] Chr14:92343954 [GRCh37] Chr14:14q32.12 |
likely benign |
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 |
copy number gain |
See cases [RCV000448557] |
Chr14:62493932..107285437 [GRCh37] Chr14:14q23.2-32.33 |
pathogenic |
NM_006329.4(FBLN5):c.1183C>T (p.Arg395Trp) |
single nucleotide variant |
Macular degeneration, age-related, 3 [RCV000477790]|not provided [RCV002525743] |
Chr14:91877489 [GRCh38] Chr14:92343833 [GRCh37] Chr14:14q32.12 |
uncertain significance |
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) |
copy number gain |
See cases [RCV000512041] |
Chr14:20511673..107285437 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
NM_006329.4(FBLN5):c.277C>A (p.Pro93Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003277300] |
Chr14:91937049 [GRCh38] Chr14:92403393 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.502+14G>T |
single nucleotide variant |
not provided [RCV002529655]|not specified [RCV000607590] |
Chr14:91894936 [GRCh38] Chr14:92361280 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1116C>A (p.Thr372=) |
single nucleotide variant |
not provided [RCV002528659]|not specified [RCV000612471] |
Chr14:91877556 [GRCh38] Chr14:92343900 [GRCh37] Chr14:14q32.12 |
likely benign |
GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1 |
copy number loss |
not provided [RCV003312295] |
Chr14:88401076..94725706 [GRCh37] Chr14:14q31.3-32.13 |
pathogenic |
NM_006329.4(FBLN5):c.862+16G>C |
single nucleotide variant |
not provided [RCV002529423]|not specified [RCV000611144] |
Chr14:91882938 [GRCh38] Chr14:92349282 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.-12C>T |
single nucleotide variant |
not specified [RCV000611308] |
Chr14:91947241 [GRCh38] Chr14:92413585 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.546G>A (p.Ala182=) |
single nucleotide variant |
not provided [RCV002528644]|not specified [RCV000614071] |
Chr14:91891294 [GRCh38] Chr14:92357638 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.747C>T (p.Asp249=) |
single nucleotide variant |
not provided [RCV001697881] |
Chr14:91883069 [GRCh38] Chr14:92349413 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.799G>A (p.Gly267Ser) |
single nucleotide variant |
Age-related macular degeneration [RCV003447149]|not provided [RCV000592441] |
Chr14:91883017 [GRCh38] Chr14:92349361 [GRCh37] Chr14:14q32.12 |
uncertain significance |
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 |
copy number gain |
See cases [RCV000512497] |
Chr14:73750741..107285437 [GRCh37] Chr14:14q24.2-32.33 |
pathogenic |
NM_006329.4(FBLN5):c.605G>T (p.Gly202Val) |
single nucleotide variant |
Proximal spinal muscular atrophy [RCV000664245] |
Chr14:91891235 [GRCh38] Chr14:92357579 [GRCh37] Chr14:14q32.12 |
uncertain significance |
GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1 |
copy number loss |
not provided [RCV000683625] |
Chr14:84783137..96908198 [GRCh37] Chr14:14q31.2-32.2 |
pathogenic |
GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1 |
copy number loss |
Deletion syndrome [RCV001004048] |
Chr14:84783523..96907490 [GRCh37] Chr14:14q31.2-32.2 |
pathogenic |
NM_006329.4(FBLN5):c.1del (p.Met1fs) |
deletion |
not provided [RCV000722994] |
Chr14:91947229 [GRCh38] Chr14:92413573 [GRCh37] Chr14:14q32.12 |
uncertain significance |
GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3 |
copy number gain |
not provided [RCV000848687] |
Chr14:91969028..107285437 [GRCh37] Chr14:14q32.12-32.33 |
pathogenic |
NM_006329.4(FBLN5):c.1201_1202del (p.Ser401fs) |
deletion |
Macular degeneration, age-related, 3 [RCV000850551] |
Chr14:91870369..91870370 [GRCh38] Chr14:92336713..92336714 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_006329.4(FBLN5):c.1186-46A>G |
single nucleotide variant |
not provided [RCV001609102] |
Chr14:91870431 [GRCh38] Chr14:92336775 [GRCh37] Chr14:14q32.12 |
benign |
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 |
copy number gain |
not provided [RCV000738412] |
Chr14:19000422..107289053 [GRCh37] Chr14:14q11.1-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 |
copy number gain |
not provided [RCV000738413] |
Chr14:19280733..107287663 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 |
copy number gain |
not provided [RCV000738414] |
Chr14:19327823..107287663 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
NM_006329.4(FBLN5):c.894G>A (p.Thr298=) |
single nucleotide variant |
not provided [RCV000761892] |
Chr14:91881387 [GRCh38] Chr14:92347731 [GRCh37] Chr14:14q32.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006329.4(FBLN5):c.862+276G>T |
single nucleotide variant |
not provided [RCV001574338] |
Chr14:91882678 [GRCh38] Chr14:92349022 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.72+308T>C |
single nucleotide variant |
not provided [RCV001582025] |
Chr14:91942599 [GRCh38] Chr14:92408943 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.726C>G (p.Gly242=) |
single nucleotide variant |
Cutis laxa [RCV001115208]|Macular degeneration, age-related, 3 [RCV001115209] |
Chr14:91887206 [GRCh38] Chr14:92353550 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1334A>T (p.Gln445Leu) |
single nucleotide variant |
Retinal dystrophy [RCV001074926] |
Chr14:91870237 [GRCh38] Chr14:92336581 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.619+10G>A |
single nucleotide variant |
not provided [RCV000827357] |
Chr14:91891211 [GRCh38] Chr14:92357555 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.739+125C>G |
single nucleotide variant |
not provided [RCV000837410] |
Chr14:91887068 [GRCh38] Chr14:92353412 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.125-151A>G |
single nucleotide variant |
not provided [RCV000839541] |
Chr14:91937352 [GRCh38] Chr14:92403696 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.125-145_125-144insA |
insertion |
not provided [RCV000839542] |
Chr14:91937345..91937346 [GRCh38] Chr14:92403689..92403690 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.125-45G>C |
single nucleotide variant |
not provided [RCV000839543] |
Chr14:91937246 [GRCh38] Chr14:92403590 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.438T>C (p.Asn146=) |
single nucleotide variant |
not provided [RCV000842315] |
Chr14:91895014 [GRCh38] Chr14:92361358 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.740-52C>T |
single nucleotide variant |
not provided [RCV000838333] |
Chr14:91883128 [GRCh38] Chr14:92349472 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.620-306G>C |
single nucleotide variant |
not provided [RCV000843687] |
Chr14:91887618 [GRCh38] Chr14:92353962 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.1318C>T (p.Arg440Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002538235]|not provided [RCV001759629]|not specified [RCV000825926] |
Chr14:91870253 [GRCh38] Chr14:92336597 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.620-239T>C |
single nucleotide variant |
not provided [RCV000838723] |
Chr14:91887551 [GRCh38] Chr14:92353895 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.3(FBLN5):c.-596T>G |
single nucleotide variant |
not provided [RCV000830462] |
Chr14:91947825 [GRCh38] Chr14:92414169 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.646C>G (p.Pro216Ala) |
single nucleotide variant |
not provided [RCV000788255] |
Chr14:91887286 [GRCh38] Chr14:92353630 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.18-87G>A |
single nucleotide variant |
not provided [RCV000839337] |
Chr14:91943048 [GRCh38] Chr14:92409392 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.740-336C>T |
single nucleotide variant |
not provided [RCV000832166] |
Chr14:91883412 [GRCh38] Chr14:92349756 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.3(FBLN5):c.-807A>G |
single nucleotide variant |
not provided [RCV000833316] |
Chr14:91948036 [GRCh38] Chr14:92414380 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.-172del |
deletion |
not provided [RCV000837462] |
Chr14:91947401 [GRCh38] Chr14:92413745 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.468C>T (p.Thr156=) |
single nucleotide variant |
not provided [RCV000827548] |
Chr14:91894984 [GRCh38] Chr14:92361328 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.*426C>T |
single nucleotide variant |
Cutis laxa [RCV001119684]|Macular degeneration, age-related, 3 [RCV001119685] |
Chr14:91869798 [GRCh38] Chr14:92336142 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1063G>C (p.Val355Leu) |
single nucleotide variant |
Cutis laxa [RCV001118252]|Macular degeneration, age-related, 3 [RCV001118251] |
Chr14:91877609 [GRCh38] Chr14:92343953 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.*121C>T |
single nucleotide variant |
Cutis laxa [RCV001116794]|Macular degeneration, age-related, 3 [RCV001116793] |
Chr14:91870103 [GRCh38] Chr14:92336447 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.*77T>A |
single nucleotide variant |
Cutis laxa [RCV001116796]|Macular degeneration, age-related, 3 [RCV001116795] |
Chr14:91870147 [GRCh38] Chr14:92336491 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.379+275A>G |
single nucleotide variant |
not provided [RCV000828881] |
Chr14:91936672 [GRCh38] Chr14:92403016 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.125-274A>G |
single nucleotide variant |
not provided [RCV000843678] |
Chr14:91937475 [GRCh38] Chr14:92403819 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.862+323T>C |
single nucleotide variant |
not provided [RCV000843682] |
Chr14:91882631 [GRCh38] Chr14:92348975 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.989+291G>T |
single nucleotide variant |
not provided [RCV000843684] |
Chr14:91881001 [GRCh38] Chr14:92347345 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.619+328G>C |
single nucleotide variant |
not provided [RCV000843685] |
Chr14:91890893 [GRCh38] Chr14:92357237 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.990-274T>C |
single nucleotide variant |
not provided [RCV000843686] |
Chr14:91877956 [GRCh38] Chr14:92344300 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.1186-260G>A |
single nucleotide variant |
not provided [RCV000844052] |
Chr14:91870645 [GRCh38] Chr14:92336989 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.72+26T>A |
single nucleotide variant |
not provided [RCV000839315] |
Chr14:91942881 [GRCh38] Chr14:92409225 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.273G>A (p.Pro91=) |
single nucleotide variant |
Cutis laxa [RCV001119892]|Macular degeneration, age-related, 3 [RCV001119893]|not provided [RCV001574532] |
Chr14:91937053 [GRCh38] Chr14:92403397 [GRCh37] Chr14:14q32.12 |
likely benign|uncertain significance |
NM_006329.4(FBLN5):c.978G>T (p.Arg326Ser) |
single nucleotide variant |
not provided [RCV001090628] |
Chr14:91881303 [GRCh38] Chr14:92347647 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.-77C>G |
single nucleotide variant |
Cutis laxa [RCV001115305]|Macular degeneration, age-related, 3 [RCV001115304] |
Chr14:91947306 [GRCh38] Chr14:92413650 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.-1C>T |
single nucleotide variant |
not provided [RCV000995241] |
Chr14:91947230 [GRCh38] Chr14:92413574 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.739+14G>A |
single nucleotide variant |
Cutis laxa, autosomal dominant 2 [RCV001196331]|not provided [RCV002560220] |
Chr14:91887179 [GRCh38] Chr14:92353523 [GRCh37] Chr14:14q32.12 |
likely benign|uncertain significance |
NM_006329.4(FBLN5):c.314C>T (p.Pro105Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003273852] |
Chr14:91937012 [GRCh38] Chr14:92403356 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.573A>G (p.Thr191=) |
single nucleotide variant |
Cutis laxa [RCV001118353]|Macular degeneration, age-related, 3 [RCV001118352]|not provided [RCV002069913] |
Chr14:91891267 [GRCh38] Chr14:92357611 [GRCh37] Chr14:14q32.12 |
likely benign|uncertain significance |
NM_006329.4(FBLN5):c.1130C>T (p.Ala377Val) |
single nucleotide variant |
Cutis laxa, autosomal dominant 2 [RCV001195769] |
Chr14:91877542 [GRCh38] Chr14:92343886 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1241G>A (p.Arg414Gln) |
single nucleotide variant |
Cutis laxa [RCV001116798]|Macular degeneration, age-related, 3 [RCV001116797]|not provided [RCV001856533] |
Chr14:91870330 [GRCh38] Chr14:92336674 [GRCh37] Chr14:14q32.12 |
benign|uncertain significance |
NM_006329.4(FBLN5):c.1331C>T (p.Ser444Leu) |
single nucleotide variant |
not provided [RCV001090627] |
Chr14:91870240 [GRCh38] Chr14:92336584 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.843T>G (p.Asp281Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003290966] |
Chr14:91882973 [GRCh38] Chr14:92349317 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.502+280G>A |
single nucleotide variant |
not provided [RCV001566755] |
Chr14:91894670 [GRCh38] Chr14:92361014 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.990-218A>G |
single nucleotide variant |
not provided [RCV001666228] |
Chr14:91877900 [GRCh38] Chr14:92344244 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.502+45G>A |
single nucleotide variant |
not provided [RCV001554882] |
Chr14:91894905 [GRCh38] Chr14:92361249 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.124+250G>C |
single nucleotide variant |
not provided [RCV001561539] |
Chr14:91940315 [GRCh38] Chr14:92406659 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.619+330A>G |
single nucleotide variant |
not provided [RCV001556810] |
Chr14:91890891 [GRCh38] Chr14:92357235 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.989+138GT[15] |
microsatellite |
not provided [RCV001620174] |
Chr14:91881121..91881124 [GRCh38] Chr14:92347465..92347468 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.727G>A (p.Val243Ile) |
single nucleotide variant |
not provided [RCV001557673] |
Chr14:91887205 [GRCh38] Chr14:92353549 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.380-138del |
deletion |
not provided [RCV001562955] |
Chr14:91895210 [GRCh38] Chr14:92361554 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1093A>G (p.Ile365Val) |
single nucleotide variant |
not provided [RCV001557879] |
Chr14:91877579 [GRCh38] Chr14:92343923 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.125-138C>G |
single nucleotide variant |
not provided [RCV001558476] |
Chr14:91937339 [GRCh38] Chr14:92403683 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.851G>A (p.Arg284Gln) |
single nucleotide variant |
not provided [RCV001541352] |
Chr14:91882965 [GRCh38] Chr14:92349309 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.990-6C>T |
single nucleotide variant |
not provided [RCV000900286] |
Chr14:91877688 [GRCh38] Chr14:92344032 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.124+123T>C |
single nucleotide variant |
not provided [RCV001561941] |
Chr14:91940442 [GRCh38] Chr14:92406786 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.17+158T>A |
single nucleotide variant |
not provided [RCV001541020] |
Chr14:91947055 [GRCh38] Chr14:92413399 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.989+138GT[20] |
microsatellite |
not provided [RCV001556806] |
Chr14:91881120..91881121 [GRCh38] Chr14:92347464..92347465 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.471C>T (p.Asp157=) |
single nucleotide variant |
not provided [RCV001557520] |
Chr14:91894981 [GRCh38] Chr14:92361325 [GRCh37] Chr14:14q32.12 |
likely benign |
NC_000014.9:g.91947959C>A |
single nucleotide variant |
not provided [RCV001575571] |
Chr14:91947959 [GRCh38] Chr14:92414303 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.432C>G (p.Cys144Trp) |
single nucleotide variant |
Cutis laxa, autosomal dominant [RCV003447332]|Cutis laxa, autosomal recessive, type 1A [RCV002470173] |
Chr14:91895020 [GRCh38] Chr14:92361364 [GRCh37] Chr14:14q32.12 |
uncertain significance|not provided |
NM_006329.4(FBLN5):c.989+138GT[11] |
microsatellite |
not provided [RCV001560115] |
Chr14:91881121..91881132 [GRCh38] Chr14:92347465..92347476 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.125-32C>T |
single nucleotide variant |
not provided [RCV001549761] |
Chr14:91937233 [GRCh38] Chr14:92403577 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.989+157_989+158insTA |
insertion |
not provided [RCV001678317] |
Chr14:91881134..91881135 [GRCh38] Chr14:92347478..92347479 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.502+66G>A |
single nucleotide variant |
not provided [RCV001576201] |
Chr14:91894884 [GRCh38] Chr14:92361228 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.989+159_989+165del |
deletion |
not provided [RCV001636532] |
Chr14:91881127..91881133 [GRCh38] Chr14:92347471..92347477 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.18-28A>G |
single nucleotide variant |
not provided [RCV001608301] |
Chr14:91942989 [GRCh38] Chr14:92409333 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.18-219A>G |
single nucleotide variant |
not provided [RCV001717621] |
Chr14:91943180 [GRCh38] Chr14:92409524 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.989+165del |
deletion |
not provided [RCV001621771] |
Chr14:91881127 [GRCh38] Chr14:92347471 [GRCh37] Chr14:14q32.12 |
benign |
NC_000014.9:g.91947760GGGGC[4] |
microsatellite |
not provided [RCV001593594] |
Chr14:91947759..91947760 [GRCh38] Chr14:92414103..92414104 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.989+138GT[16] |
microsatellite |
not provided [RCV001536832] |
Chr14:91881121..91881122 [GRCh38] Chr14:92347465..92347466 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.863-209del |
deletion |
not provided [RCV001678140] |
Chr14:91881627 [GRCh38] Chr14:92347971 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.72+148A>G |
single nucleotide variant |
not provided [RCV001717622] |
Chr14:91942759 [GRCh38] Chr14:92409103 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.1185+67G>A |
single nucleotide variant |
not provided [RCV001718258] |
Chr14:91877420 [GRCh38] Chr14:92343764 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.989+146G>A |
single nucleotide variant |
not provided [RCV001717577] |
Chr14:91881146 [GRCh38] Chr14:92347490 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.990-223A>C |
single nucleotide variant |
not provided [RCV001658565] |
Chr14:91877905 [GRCh38] Chr14:92344249 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.889C>G (p.His297Asp) |
single nucleotide variant |
Peripheral axonal neuropathy [RCV001007475]|not provided [RCV001860575] |
Chr14:91881392 [GRCh38] Chr14:92347736 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.901C>A (p.Leu301Met) |
single nucleotide variant |
Cutis laxa [RCV001121773]|Cutis laxa, autosomal dominant [RCV003447317]|Macular degeneration, age-related, 3 [RCV001121772]|not provided [RCV001562423] |
Chr14:91881380 [GRCh38] Chr14:92347724 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.*419G>C |
single nucleotide variant |
Cutis laxa [RCV001121669]|Macular degeneration, age-related, 3 [RCV001121670] |
Chr14:91869805 [GRCh38] Chr14:92336149 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.989+167del |
deletion |
not provided [RCV001680712] |
Chr14:91881125 [GRCh38] Chr14:92347469 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.620-135C>T |
single nucleotide variant |
not provided [RCV001537087] |
Chr14:91887447 [GRCh38] Chr14:92353791 [GRCh37] Chr14:14q32.12 |
likely benign |
NC_000014.9:g.91947724dup |
duplication |
not provided [RCV001589785] |
Chr14:91947719..91947720 [GRCh38] Chr14:92414063..92414064 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.336A>G (p.Ile112Met) |
single nucleotide variant |
Cutis laxa [RCV001119890]|Macular degeneration, age-related, 3 [RCV001119891] |
Chr14:91936990 [GRCh38] Chr14:92403334 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.124+8C>A |
single nucleotide variant |
Cutis laxa [RCV001121880]|Macular degeneration, age-related, 3 [RCV001121881] |
Chr14:91940557 [GRCh38] Chr14:92406901 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.893C>G (p.Thr298Arg) |
single nucleotide variant |
not provided [RCV001090629] |
Chr14:91881388 [GRCh38] Chr14:92347732 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.422C>T (p.Thr141Ile) |
single nucleotide variant |
Cutis laxa, autosomal dominant 2 [RCV001262892] |
Chr14:91895030 [GRCh38] Chr14:92361374 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.379+1G>C |
single nucleotide variant |
Cutis laxa, autosomal dominant 2 [RCV001334533] |
Chr14:91936946 [GRCh38] Chr14:92403290 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_006329.4(FBLN5):c.735C>T (p.Cys245=) |
single nucleotide variant |
not provided [RCV001310716] |
Chr14:91887197 [GRCh38] Chr14:92353541 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1307T>A (p.Val436Glu) |
single nucleotide variant |
Cutis laxa, autosomal dominant 2 [RCV001334532]|not provided [RCV002546686] |
Chr14:91870264 [GRCh38] Chr14:92336608 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1134T>G (p.Tyr378Ter) |
single nucleotide variant |
Cutis laxa, autosomal recessive, type 1A [RCV001290131] |
Chr14:91877538 [GRCh38] Chr14:92343882 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_006329.4(FBLN5):c.652G>A (p.Val218Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002564217]|not provided [RCV001507852] |
Chr14:91887280 [GRCh38] Chr14:92353624 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.245A>C (p.Asn82Thr) |
single nucleotide variant |
Macular degeneration, age-related, 3 [RCV001526878]|Macular degeneration, age-related, 3 [RCV002476839] |
Chr14:91937081 [GRCh38] Chr14:92403425 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.850C>T (p.Arg284Ter) |
single nucleotide variant |
Cutis laxa, autosomal dominant [RCV003447324]|not provided [RCV001507851] |
Chr14:91882966 [GRCh38] Chr14:92349310 [GRCh37] Chr14:14q32.12 |
likely pathogenic|uncertain significance |
NM_006329.4(FBLN5):c.127A>G (p.Ile43Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002567979]|not provided [RCV001507853] |
Chr14:91937199 [GRCh38] Chr14:92403543 [GRCh37] Chr14:14q32.12 |
likely benign|uncertain significance |
NM_006329.4(FBLN5):c.-2A>T |
single nucleotide variant |
not provided [RCV001586154] |
Chr14:91947231 [GRCh38] Chr14:92413575 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.692G>A (p.Arg231His) |
single nucleotide variant |
not provided [RCV001593537] |
Chr14:91887240 [GRCh38] Chr14:92353584 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.125-115A>G |
single nucleotide variant |
not provided [RCV001643953] |
Chr14:91937316 [GRCh38] Chr14:92403660 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.990-3C>T |
single nucleotide variant |
not provided [RCV001588092] |
Chr14:91877685 [GRCh38] Chr14:92344029 [GRCh37] Chr14:14q32.12 |
likely benign|conflicting interpretations of pathogenicity |
NM_006329.4(FBLN5):c.229C>T (p.Arg77Ter) |
single nucleotide variant |
not provided [RCV001755278] |
Chr14:91937097 [GRCh38] Chr14:92403441 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1084C>T (p.Pro362Ser) |
single nucleotide variant |
not provided [RCV001755270] |
Chr14:91877588 [GRCh38] Chr14:92343932 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.167A>C (p.Asp56Ala) |
single nucleotide variant |
not provided [RCV001768207] |
Chr14:91937159 [GRCh38] Chr14:92403503 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.341G>A (p.Arg114His) |
single nucleotide variant |
Inborn genetic diseases [RCV002540644]|not provided [RCV001774858] |
Chr14:91936985 [GRCh38] Chr14:92403329 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1174T>C (p.Phe392Leu) |
single nucleotide variant |
not provided [RCV001776370] |
Chr14:91877498 [GRCh38] Chr14:92343842 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.882C>G (p.His294Gln) |
single nucleotide variant |
not provided [RCV001776513] |
Chr14:91881399 [GRCh38] Chr14:92347743 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1090G>A (p.Asp364Asn) |
single nucleotide variant |
not provided [RCV001759051] |
Chr14:91877582 [GRCh38] Chr14:92343926 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1002T>C (p.Cys334=) |
single nucleotide variant |
not provided [RCV001815768] |
Chr14:91877670 [GRCh38] Chr14:92344014 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1256A>G (p.Asp419Gly) |
single nucleotide variant |
not provided [RCV001888910] |
Chr14:91870315 [GRCh38] Chr14:92336659 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.707A>T (p.Tyr236Phe) |
single nucleotide variant |
not provided [RCV001964091] |
Chr14:91887225 [GRCh38] Chr14:92353569 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.16A>T (p.Arg6Trp) |
single nucleotide variant |
not provided [RCV001896048] |
Chr14:91947214 [GRCh38] Chr14:92413558 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.545C>T (p.Ala182Val) |
single nucleotide variant |
not provided [RCV001967960] |
Chr14:91891295 [GRCh38] Chr14:92357639 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1323A>G (p.Ile441Met) |
single nucleotide variant |
not provided [RCV002024827] |
Chr14:91870248 [GRCh38] Chr14:92336592 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1076G>C (p.Arg359Pro) |
single nucleotide variant |
not provided [RCV001913980] |
Chr14:91877596 [GRCh38] Chr14:92343940 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.736A>G (p.Ser246Gly) |
single nucleotide variant |
not provided [RCV001970950] |
Chr14:91887196 [GRCh38] Chr14:92353540 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.87T>A (p.Asn29Lys) |
single nucleotide variant |
not provided [RCV001929819] |
Chr14:91940602 [GRCh38] Chr14:92406946 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.532C>G (p.Gln178Glu) |
single nucleotide variant |
not provided [RCV001987556] |
Chr14:91891308 [GRCh38] Chr14:92357652 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1067T>C (p.Val356Ala) |
single nucleotide variant |
not provided [RCV001893369] |
Chr14:91877605 [GRCh38] Chr14:92343949 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.664G>A (p.Val222Ile) |
single nucleotide variant |
not provided [RCV001965642] |
Chr14:91887268 [GRCh38] Chr14:92353612 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1262A>C (p.Glu421Ala) |
single nucleotide variant |
not provided [RCV002021788] |
Chr14:91870309 [GRCh38] Chr14:92336653 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.313C>A (p.Pro105Thr) |
single nucleotide variant |
not provided [RCV001909800] |
Chr14:91937013 [GRCh38] Chr14:92403357 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.985G>A (p.Asp329Asn) |
single nucleotide variant |
not provided [RCV001894050] |
Chr14:91881296 [GRCh38] Chr14:92347640 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.317C>T (p.Thr106Met) |
single nucleotide variant |
not provided [RCV001893422] |
Chr14:91937009 [GRCh38] Chr14:92403353 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1040C>T (p.Thr347Ile) |
single nucleotide variant |
not provided [RCV001892053] |
Chr14:91877632 [GRCh38] Chr14:92343976 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.956G>A (p.Arg319His) |
single nucleotide variant |
not provided [RCV002039546] |
Chr14:91881325 [GRCh38] Chr14:92347669 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.646C>T (p.Pro216Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003250435]|not provided [RCV002024056] |
Chr14:91887286 [GRCh38] Chr14:92353630 [GRCh37] Chr14:14q32.12 |
uncertain significance |
GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741) |
copy number loss |
not specified [RCV002053117] |
Chr14:88345625..94773741 [GRCh37] Chr14:14q31.3-32.13 |
pathogenic |
NM_006329.4(FBLN5):c.1016C>G (p.Pro339Arg) |
single nucleotide variant |
not provided [RCV001966520] |
Chr14:91877656 [GRCh38] Chr14:92344000 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.74C>G (p.Ala25Gly) |
single nucleotide variant |
not provided [RCV002004337] |
Chr14:91940615 [GRCh38] Chr14:92406959 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.58C>T (p.Pro20Ser) |
single nucleotide variant |
not provided [RCV001928636] |
Chr14:91942921 [GRCh38] Chr14:92409265 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.992G>A (p.Arg331His) |
single nucleotide variant |
Charcot-Marie-Tooth disease, demyelinating, IIA 1H [RCV001843340]|Macular degeneration, age-related, 3 [RCV002290773]|not provided [RCV002034713] |
Chr14:91877680 [GRCh38] Chr14:92344024 [GRCh37] Chr14:14q32.12 |
pathogenic|uncertain significance |
NM_006329.4(FBLN5):c.1229T>C (p.Ile410Thr) |
single nucleotide variant |
not provided [RCV001968524] |
Chr14:91870342 [GRCh38] Chr14:92336686 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.491G>A (p.Gly164Asp) |
single nucleotide variant |
not provided [RCV002021656] |
Chr14:91894961 [GRCh38] Chr14:92361305 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.911C>T (p.Thr304Met) |
single nucleotide variant |
not provided [RCV001948347] |
Chr14:91881370 [GRCh38] Chr14:92347714 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.242C>T (p.Ser81Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002571227]|not provided [RCV001968788] |
Chr14:91937084 [GRCh38] Chr14:92403428 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.986A>T (p.Asp329Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease, demyelinating, IIA 1H [RCV001843339] |
Chr14:91881295 [GRCh38] Chr14:92347639 [GRCh37] Chr14:14q32.12 |
pathogenic |
NM_006329.4(FBLN5):c.161G>A (p.Arg54Gln) |
single nucleotide variant |
Tip-toe gait [RCV001837614]|not provided [RCV002545213] |
Chr14:91937165 [GRCh38] Chr14:92403509 [GRCh37] Chr14:14q32.12 |
likely pathogenic|uncertain significance |
NM_006329.4(FBLN5):c.1342T>C (p.Phe448Leu) |
single nucleotide variant |
not provided [RCV001930477] |
Chr14:91870229 [GRCh38] Chr14:92336573 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.211C>T (p.Arg71Trp) |
single nucleotide variant |
not provided [RCV001942921] |
Chr14:91937115 [GRCh38] Chr14:92403459 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1160A>C (p.Asn387Thr) |
single nucleotide variant |
not provided [RCV002001040] |
Chr14:91877512 [GRCh38] Chr14:92343856 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.834C>G (p.Ile278Met) |
single nucleotide variant |
not provided [RCV002038373] |
Chr14:91882982 [GRCh38] Chr14:92349326 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1076G>A (p.Arg359His) |
single nucleotide variant |
not provided [RCV001960915] |
Chr14:91877596 [GRCh38] Chr14:92343940 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.445G>C (p.Gly149Arg) |
single nucleotide variant |
not provided [RCV002000712] |
Chr14:91895007 [GRCh38] Chr14:92361351 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1204G>A (p.Ala402Thr) |
single nucleotide variant |
not provided [RCV001990868] |
Chr14:91870367 [GRCh38] Chr14:92336711 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1286T>C (p.Ile429Thr) |
single nucleotide variant |
not provided [RCV001900426] |
Chr14:91870285 [GRCh38] Chr14:92336629 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1246A>G (p.Ile416Val) |
single nucleotide variant |
not provided [RCV001954423] |
Chr14:91870325 [GRCh38] Chr14:92336669 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1185+6_1185+12del |
deletion |
not provided [RCV001978685] |
Chr14:91877475..91877481 [GRCh38] Chr14:92343819..92343825 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.755G>C (p.Ser252Thr) |
single nucleotide variant |
not provided [RCV001973601] |
Chr14:91883061 [GRCh38] Chr14:92349405 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1252C>G (p.Leu418Val) |
single nucleotide variant |
not provided [RCV001991971] |
Chr14:91870319 [GRCh38] Chr14:92336663 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.862+18G>T |
single nucleotide variant |
not provided [RCV002034998] |
Chr14:91882936 [GRCh38] Chr14:92349280 [GRCh37] Chr14:14q32.12 |
likely benign|uncertain significance |
NM_006329.4(FBLN5):c.508G>A (p.Asp170Asn) |
single nucleotide variant |
not provided [RCV001916847] |
Chr14:91891332 [GRCh38] Chr14:92357676 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1223G>A (p.Arg408His) |
single nucleotide variant |
not provided [RCV001995971] |
Chr14:91870348 [GRCh38] Chr14:92336692 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.266C>T (p.Ser89Leu) |
single nucleotide variant |
not provided [RCV001998662] |
Chr14:91937060 [GRCh38] Chr14:92403404 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.416A>G (p.Asn139Ser) |
single nucleotide variant |
not provided [RCV001898990] |
Chr14:91895036 [GRCh38] Chr14:92361380 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.245_256del (p.Asn82_Ser85del) |
deletion |
not provided [RCV001957296] |
Chr14:91937070..91937081 [GRCh38] Chr14:92403414..92403425 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1025G>C (p.Arg342Thr) |
single nucleotide variant |
not provided [RCV002046849] |
Chr14:91877647 [GRCh38] Chr14:92343991 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.335T>C (p.Ile112Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003170452]|not provided [RCV001981208] |
Chr14:91936991 [GRCh38] Chr14:92403335 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.503-35_509dup |
duplication |
not provided [RCV002036133] |
Chr14:91891330..91891331 [GRCh38] Chr14:92357674..92357675 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1081G>A (p.Val361Ile) |
single nucleotide variant |
not provided [RCV002035092] |
Chr14:91877591 [GRCh38] Chr14:92343935 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1319G>A (p.Arg440Gln) |
single nucleotide variant |
not provided [RCV002036171] |
Chr14:91870252 [GRCh38] Chr14:92336596 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.869A>G (p.Asn290Ser) |
single nucleotide variant |
not provided [RCV001931567] |
Chr14:91881412 [GRCh38] Chr14:92347756 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.652G>T (p.Val218Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003250416]|not provided [RCV002029052] |
Chr14:91887280 [GRCh38] Chr14:92353624 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.571A>G (p.Thr191Ala) |
single nucleotide variant |
not provided [RCV002012661] |
Chr14:91891269 [GRCh38] Chr14:92357613 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.103C>T (p.Arg35Cys) |
single nucleotide variant |
not provided [RCV001879401] |
Chr14:91940586 [GRCh38] Chr14:92406930 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1327G>A (p.Val443Met) |
single nucleotide variant |
not provided [RCV002050223] |
Chr14:91870244 [GRCh38] Chr14:92336588 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1052G>A (p.Arg351Gln) |
single nucleotide variant |
not provided [RCV002049271] |
Chr14:91877620 [GRCh38] Chr14:92343964 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.990-17del |
deletion |
not provided [RCV002206068] |
Chr14:91877699 [GRCh38] Chr14:92344043 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.825A>C (p.Pro275=) |
single nucleotide variant |
not provided [RCV002105481] |
Chr14:91882991 [GRCh38] Chr14:92349335 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.639C>T (p.Thr213=) |
single nucleotide variant |
not provided [RCV002168677] |
Chr14:91887293 [GRCh38] Chr14:92353637 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.552T>C (p.Val184=) |
single nucleotide variant |
not provided [RCV002186820] |
Chr14:91891288 [GRCh38] Chr14:92357632 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1134T>C (p.Tyr378=) |
single nucleotide variant |
not provided [RCV002186768] |
Chr14:91877538 [GRCh38] Chr14:92343882 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.651C>T (p.Cys217=) |
single nucleotide variant |
not provided [RCV002170290] |
Chr14:91887281 [GRCh38] Chr14:92353625 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.739+8G>A |
single nucleotide variant |
not provided [RCV002147795] |
Chr14:91887185 [GRCh38] Chr14:92353529 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.862+12C>A |
single nucleotide variant |
not provided [RCV002144774] |
Chr14:91882942 [GRCh38] Chr14:92349286 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1186-18C>A |
single nucleotide variant |
not provided [RCV002169938] |
Chr14:91870403 [GRCh38] Chr14:92336747 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.144C>A (p.Thr48=) |
single nucleotide variant |
not provided [RCV002148770] |
Chr14:91937182 [GRCh38] Chr14:92403526 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1332G>T (p.Ser444=) |
single nucleotide variant |
not provided [RCV002167210] |
Chr14:91870239 [GRCh38] Chr14:92336583 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.739+15C>T |
single nucleotide variant |
not provided [RCV002127603] |
Chr14:91887178 [GRCh38] Chr14:92353522 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.739+13C>T |
single nucleotide variant |
not provided [RCV002146495] |
Chr14:91887180 [GRCh38] Chr14:92353524 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.125-8C>T |
single nucleotide variant |
not provided [RCV002208372] |
Chr14:91937209 [GRCh38] Chr14:92403553 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1194C>T (p.Gly398=) |
single nucleotide variant |
not provided [RCV002128855] |
Chr14:91870377 [GRCh38] Chr14:92336721 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.966G>A (p.Glu322=) |
single nucleotide variant |
not provided [RCV002151964] |
Chr14:91881315 [GRCh38] Chr14:92347659 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.740-5C>T |
single nucleotide variant |
not provided [RCV002078643] |
Chr14:91883081 [GRCh38] Chr14:92349425 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.989+17C>T |
single nucleotide variant |
not provided [RCV002071043] |
Chr14:91881275 [GRCh38] Chr14:92347619 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.379+13G>T |
single nucleotide variant |
not provided [RCV002116607] |
Chr14:91936934 [GRCh38] Chr14:92403278 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.484C>T (p.Leu162=) |
single nucleotide variant |
not provided [RCV002112894] |
Chr14:91894968 [GRCh38] Chr14:92361312 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.264C>T (p.Tyr88=) |
single nucleotide variant |
not provided [RCV002195090] |
Chr14:91937062 [GRCh38] Chr14:92403406 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.862+19G>A |
single nucleotide variant |
not provided [RCV002168898] |
Chr14:91882935 [GRCh38] Chr14:92349279 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.503-15C>T |
single nucleotide variant |
not provided [RCV002206594] |
Chr14:91891352 [GRCh38] Chr14:92357696 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.379+11C>T |
single nucleotide variant |
not provided [RCV002150854] |
Chr14:91936936 [GRCh38] Chr14:92403280 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.204C>T (p.Cys68=) |
single nucleotide variant |
not provided [RCV002188839] |
Chr14:91937122 [GRCh38] Chr14:92403466 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.502+13T>C |
single nucleotide variant |
not provided [RCV002146831] |
Chr14:91894937 [GRCh38] Chr14:92361281 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.84G>A (p.Thr28=) |
single nucleotide variant |
not provided [RCV002194919] |
Chr14:91940605 [GRCh38] Chr14:92406949 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1185+14G>A |
single nucleotide variant |
not provided [RCV002150094] |
Chr14:91877473 [GRCh38] Chr14:92343817 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.862+12C>G |
single nucleotide variant |
not provided [RCV002227377] |
Chr14:91882942 [GRCh38] Chr14:92349286 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.989+16C>A |
single nucleotide variant |
not provided [RCV002175696] |
Chr14:91881276 [GRCh38] Chr14:92347620 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1080C>T (p.Ser360=) |
single nucleotide variant |
not provided [RCV002156554] |
Chr14:91877592 [GRCh38] Chr14:92343936 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1320G>A (p.Arg440=) |
single nucleotide variant |
not provided [RCV002220876] |
Chr14:91870251 [GRCh38] Chr14:92336595 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.380-7A>G |
single nucleotide variant |
not provided [RCV002220910] |
Chr14:91895079 [GRCh38] Chr14:92361423 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1065G>A (p.Val355=) |
single nucleotide variant |
not provided [RCV002140020] |
Chr14:91877607 [GRCh38] Chr14:92343951 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.619+9C>T |
single nucleotide variant |
not provided [RCV002138225] |
Chr14:91891212 [GRCh38] Chr14:92357556 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.486G>A (p.Leu162=) |
single nucleotide variant |
not provided [RCV002083317] |
Chr14:91894966 [GRCh38] Chr14:92361310 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.675C>T (p.Tyr225=) |
single nucleotide variant |
not provided [RCV002163327] |
Chr14:91887257 [GRCh38] Chr14:92353601 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.387C>T (p.Asp129=) |
single nucleotide variant |
not provided [RCV002143303] |
Chr14:91895065 [GRCh38] Chr14:92361409 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.989+9C>G |
single nucleotide variant |
not provided [RCV002155629] |
Chr14:91881283 [GRCh38] Chr14:92347627 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1212G>C (p.Leu404=) |
single nucleotide variant |
not provided [RCV002083711] |
Chr14:91870359 [GRCh38] Chr14:92336703 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.990-19G>C |
single nucleotide variant |
not provided [RCV002217115] |
Chr14:91877701 [GRCh38] Chr14:92344045 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.1239C>G (p.Pro413=) |
single nucleotide variant |
not provided [RCV002203890] |
Chr14:91870332 [GRCh38] Chr14:92336676 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.750G>A (p.Glu250=) |
single nucleotide variant |
not provided [RCV002179930] |
Chr14:91883066 [GRCh38] Chr14:92349410 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.502+20del |
deletion |
not provided [RCV002122985] |
Chr14:91894930 [GRCh38] Chr14:92361274 [GRCh37] Chr14:14q32.12 |
benign |
NM_006329.4(FBLN5):c.1186-19T>C |
single nucleotide variant |
not provided [RCV002138470] |
Chr14:91870404 [GRCh38] Chr14:92336748 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.503-20G>A |
single nucleotide variant |
not provided [RCV002199401] |
Chr14:91891357 [GRCh38] Chr14:92357701 [GRCh37] Chr14:14q32.12 |
likely benign |
NC_000014.8:g.(?_90429459)_(97347545_?)dup |
duplication |
not provided [RCV003109490] |
Chr14:90429459..97347545 [GRCh37] Chr14:14q32.11-32.2 |
uncertain significance |
NM_006329.4(FBLN5):c.989+138GT[18] |
microsatellite |
not provided [RCV003110013] |
Chr14:91881120..91881121 [GRCh38] Chr14:92347464..92347465 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.963G>A (p.Glu321=) |
single nucleotide variant |
not provided [RCV003116917] |
Chr14:91881318 [GRCh38] Chr14:92347662 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.372A>G (p.Gln124=) |
single nucleotide variant |
not provided [RCV003116078] |
Chr14:91936954 [GRCh38] Chr14:92403298 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.912G>A (p.Thr304=) |
single nucleotide variant |
not provided [RCV003116087] |
Chr14:91881369 [GRCh38] Chr14:92347713 [GRCh37] Chr14:14q32.12 |
likely benign |
NC_000014.8:g.(?_90429459)_(94856914_?)dup |
duplication |
Achondrogenesis, type IA [RCV003113413] |
Chr14:90429459..94856914 [GRCh37] Chr14:14q32.11-32.13 |
uncertain significance |
NM_006329.4(FBLN5):c.627C>T (p.Asn209=) |
single nucleotide variant |
not provided [RCV003121947] |
Chr14:91887305 [GRCh38] Chr14:92353649 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.64A>G (p.Asn22Asp) |
single nucleotide variant |
not provided [RCV003122042] |
Chr14:91942915 [GRCh38] Chr14:92409259 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.505A>G (p.Ile169Val) |
single nucleotide variant |
not provided [RCV003118947] |
Chr14:91891335 [GRCh38] Chr14:92357679 [GRCh37] Chr14:14q32.12 |
uncertain significance |
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 |
copy number gain |
See cases [RCV002286356] |
Chr14:37671058..106985955 [GRCh37] Chr14:14q13.3-32.33 |
pathogenic |
NM_006329.4(FBLN5):c.724G>A (p.Gly242Ser) |
single nucleotide variant |
not provided [RCV002297804] |
Chr14:91887208 [GRCh38] Chr14:92353552 [GRCh37] Chr14:14q32.12 |
uncertain significance |
GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3 |
copy number gain |
not provided [RCV002472581] |
Chr14:84537502..107285437 [GRCh37] Chr14:14q31.2-32.33 |
pathogenic |
NM_006329.4(FBLN5):c.265T>G (p.Ser89Ala) |
single nucleotide variant |
not provided [RCV002296052] |
Chr14:91937061 [GRCh38] Chr14:92403405 [GRCh37] Chr14:14q32.12 |
uncertain significance |
GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3 |
copy number gain |
not provided [RCV002472541] |
Chr14:81593708..97059276 [GRCh37] Chr14:14q31.1-32.2 |
likely pathogenic |
NM_006329.4(FBLN5):c.251A>T (p.Tyr84Phe) |
single nucleotide variant |
not provided [RCV002297993] |
Chr14:91937075 [GRCh38] Chr14:92403419 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1034C>G (p.Pro345Arg) |
single nucleotide variant |
not provided [RCV002302046] |
Chr14:91877638 [GRCh38] Chr14:92343982 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1066G>T (p.Val356Leu) |
single nucleotide variant |
not provided [RCV002300523] |
Chr14:91877606 [GRCh38] Chr14:92343950 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.43C>G (p.Leu15Val) |
single nucleotide variant |
not provided [RCV002297969] |
Chr14:91942936 [GRCh38] Chr14:92409280 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.418C>T (p.Pro140Ser) |
single nucleotide variant |
not provided [RCV002301654] |
Chr14:91895034 [GRCh38] Chr14:92361378 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1185+15G>A |
single nucleotide variant |
not provided [RCV002730307] |
Chr14:91877472 [GRCh38] Chr14:92343816 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.605G>A (p.Gly202Glu) |
single nucleotide variant |
not provided [RCV002685434] |
Chr14:91891235 [GRCh38] Chr14:92357579 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.570T>C (p.Cys190=) |
single nucleotide variant |
not provided [RCV002815893] |
Chr14:91891270 [GRCh38] Chr14:92357614 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.380-2A>G |
single nucleotide variant |
not provided [RCV003017711] |
Chr14:91895074 [GRCh38] Chr14:92361418 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.989+13G>T |
single nucleotide variant |
not provided [RCV002881109] |
Chr14:91881279 [GRCh38] Chr14:92347623 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.698A>C (p.Asp233Ala) |
single nucleotide variant |
not provided [RCV002756584] |
Chr14:91887234 [GRCh38] Chr14:92353578 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1112C>T (p.Thr371Met) |
single nucleotide variant |
not provided [RCV003095408] |
Chr14:91877560 [GRCh38] Chr14:92343904 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.456C>G (p.Thr152=) |
single nucleotide variant |
not provided [RCV003035147] |
Chr14:91894996 [GRCh38] Chr14:92361340 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.722A>G (p.Asp241Gly) |
single nucleotide variant |
not provided [RCV002819767] |
Chr14:91887210 [GRCh38] Chr14:92353554 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1161T>C (p.Asn387=) |
single nucleotide variant |
not provided [RCV002681411] |
Chr14:91877511 [GRCh38] Chr14:92343855 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.989+15C>T |
single nucleotide variant |
not provided [RCV003016491] |
Chr14:91881277 [GRCh38] Chr14:92347621 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.740-3C>T |
single nucleotide variant |
not provided [RCV002774831] |
Chr14:91883079 [GRCh38] Chr14:92349423 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1101A>G (p.Gln367=) |
single nucleotide variant |
not provided [RCV002681784] |
Chr14:91877571 [GRCh38] Chr14:92343915 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.218A>T (p.Asn73Ile) |
single nucleotide variant |
not provided [RCV002615054] |
Chr14:91937108 [GRCh38] Chr14:92403452 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.255_266dup (p.Ser89_Gly90insThrProTyrSer) |
duplication |
not provided [RCV002614443] |
Chr14:91937059..91937060 [GRCh38] Chr14:92403403..92403404 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1240C>T (p.Arg414Trp) |
single nucleotide variant |
not provided [RCV002462399] |
Chr14:91870331 [GRCh38] Chr14:92336675 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.139C>T (p.Arg47Ter) |
single nucleotide variant |
not provided [RCV003014439] |
Chr14:91937187 [GRCh38] Chr14:92403531 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.990-20C>T |
single nucleotide variant |
not provided [RCV002617826] |
Chr14:91877702 [GRCh38] Chr14:92344046 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.638C>T (p.Thr213Ile) |
single nucleotide variant |
not provided [RCV002994699] |
Chr14:91887294 [GRCh38] Chr14:92353638 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.619+11del |
deletion |
not provided [RCV003038960] |
Chr14:91891210 [GRCh38] Chr14:92357554 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.453C>T (p.Tyr151=) |
single nucleotide variant |
not provided [RCV002914314] |
Chr14:91894999 [GRCh38] Chr14:92361343 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1186-13G>A |
single nucleotide variant |
not provided [RCV002914397] |
Chr14:91870398 [GRCh38] Chr14:92336742 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1226C>T (p.Pro409Leu) |
single nucleotide variant |
not provided [RCV002619095] |
Chr14:91870345 [GRCh38] Chr14:92336689 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.989+2T>C |
single nucleotide variant |
not provided [RCV002690993] |
Chr14:91881290 [GRCh38] Chr14:92347634 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.104G>A (p.Arg35His) |
single nucleotide variant |
not provided [RCV002621730] |
Chr14:91940585 [GRCh38] Chr14:92406929 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.18-20T>G |
single nucleotide variant |
not provided [RCV002796662] |
Chr14:91942981 [GRCh38] Chr14:92409325 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1232A>G (p.Lys411Arg) |
single nucleotide variant |
not provided [RCV002705945] |
Chr14:91870339 [GRCh38] Chr14:92336683 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.528C>T (p.Tyr176=) |
single nucleotide variant |
not provided [RCV002735937] |
Chr14:91891312 [GRCh38] Chr14:92357656 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.379+15C>G |
single nucleotide variant |
not provided [RCV002659378] |
Chr14:91936932 [GRCh38] Chr14:92403276 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.726C>T (p.Gly242=) |
single nucleotide variant |
not provided [RCV002756851] |
Chr14:91887206 [GRCh38] Chr14:92353550 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1063G>A (p.Val355Met) |
single nucleotide variant |
not provided [RCV002979013] |
Chr14:91877609 [GRCh38] Chr14:92343953 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1260G>A (p.Leu420=) |
single nucleotide variant |
not provided [RCV002795762] |
Chr14:91870311 [GRCh38] Chr14:92336655 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.544G>A (p.Ala182Thr) |
single nucleotide variant |
not provided [RCV002705824] |
Chr14:91891296 [GRCh38] Chr14:92357640 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.73G>C (p.Ala25Pro) |
single nucleotide variant |
not provided [RCV002781516] |
Chr14:91940616 [GRCh38] Chr14:92406960 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.739+11T>C |
single nucleotide variant |
not provided [RCV002871058] |
Chr14:91887182 [GRCh38] Chr14:92353526 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1185+18_1185+24del |
microsatellite |
not provided [RCV002795368] |
Chr14:91877463..91877469 [GRCh38] Chr14:92343807..92343813 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.380-9_380-8del |
deletion |
not provided [RCV003019382] |
Chr14:91895080..91895081 [GRCh38] Chr14:92361424..92361425 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1313G>A (p.Arg438Gln) |
single nucleotide variant |
not provided [RCV002780439] |
Chr14:91870258 [GRCh38] Chr14:92336602 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1191G>T (p.Thr397=) |
single nucleotide variant |
not provided [RCV003036266] |
Chr14:91870380 [GRCh38] Chr14:92336724 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.54A>G (p.Pro18=) |
single nucleotide variant |
not provided [RCV002867258] |
Chr14:91942925 [GRCh38] Chr14:92409269 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.945_946inv (p.Asp316Asn) |
inversion |
not provided [RCV002886219] |
Chr14:91881335..91881336 [GRCh38] Chr14:92347679..92347680 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.229C>A (p.Arg77=) |
single nucleotide variant |
not provided [RCV002797095] |
Chr14:91937097 [GRCh38] Chr14:92403441 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.619+14A>T |
single nucleotide variant |
not provided [RCV002570226] |
Chr14:91891207 [GRCh38] Chr14:92357551 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.989+14T>G |
single nucleotide variant |
not provided [RCV002569551] |
Chr14:91881278 [GRCh38] Chr14:92347622 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.379+12G>A |
single nucleotide variant |
not provided [RCV002590796] |
Chr14:91936935 [GRCh38] Chr14:92403279 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.666C>T (p.Val222=) |
single nucleotide variant |
not provided [RCV003038276] |
Chr14:91887266 [GRCh38] Chr14:92353610 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.903G>A (p.Leu301=) |
single nucleotide variant |
not provided [RCV002926912] |
Chr14:91881378 [GRCh38] Chr14:92347722 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.739+6G>A |
single nucleotide variant |
not provided [RCV003002083] |
Chr14:91887187 [GRCh38] Chr14:92353531 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.265T>C (p.Ser89Pro) |
single nucleotide variant |
not provided [RCV002636318] |
Chr14:91937061 [GRCh38] Chr14:92403405 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1112C>A (p.Thr371Lys) |
single nucleotide variant |
not provided [RCV002640020] |
Chr14:91877560 [GRCh38] Chr14:92343904 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.72+12A>G |
single nucleotide variant |
not provided [RCV002575751] |
Chr14:91942895 [GRCh38] Chr14:92409239 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.863-12C>G |
single nucleotide variant |
not provided [RCV002700684] |
Chr14:91881430 [GRCh38] Chr14:92347774 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.72+5G>T |
single nucleotide variant |
not provided [RCV002667558] |
Chr14:91942902 [GRCh38] Chr14:92409246 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1042A>C (p.Ile348Leu) |
single nucleotide variant |
not provided [RCV002741330] |
Chr14:91877630 [GRCh38] Chr14:92343974 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.863-19T>G |
single nucleotide variant |
not provided [RCV002642449] |
Chr14:91881437 [GRCh38] Chr14:92347781 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1230C>T (p.Ile410=) |
single nucleotide variant |
not provided [RCV003023582] |
Chr14:91870341 [GRCh38] Chr14:92336685 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.862+17G>C |
single nucleotide variant |
not provided [RCV002765824] |
Chr14:91882937 [GRCh38] Chr14:92349281 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.243G>A (p.Ser81=) |
single nucleotide variant |
not provided [RCV002710619] |
Chr14:91937083 [GRCh38] Chr14:92403427 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.990-19G>A |
single nucleotide variant |
not provided [RCV002597001] |
Chr14:91877701 [GRCh38] Chr14:92344045 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.154G>T (p.Ala52Ser) |
single nucleotide variant |
not provided [RCV002595186] |
Chr14:91937172 [GRCh38] Chr14:92403516 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.314C>A (p.Pro105His) |
single nucleotide variant |
not provided [RCV002928336] |
Chr14:91937012 [GRCh38] Chr14:92403356 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.863-14C>A |
single nucleotide variant |
not provided [RCV002829303] |
Chr14:91881432 [GRCh38] Chr14:92347776 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1222C>T (p.Arg408Cys) |
single nucleotide variant |
not provided [RCV002667837] |
Chr14:91870349 [GRCh38] Chr14:92336693 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.502+19G>A |
single nucleotide variant |
not provided [RCV002982682] |
Chr14:91894931 [GRCh38] Chr14:92361275 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1231A>T (p.Lys411Ter) |
single nucleotide variant |
not provided [RCV002851895] |
Chr14:91870340 [GRCh38] Chr14:92336684 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1227C>T (p.Pro409=) |
single nucleotide variant |
not provided [RCV002711058] |
Chr14:91870344 [GRCh38] Chr14:92336688 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.292C>T (p.Pro98Ser) |
single nucleotide variant |
not provided [RCV002790366] |
Chr14:91937034 [GRCh38] Chr14:92403378 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1251G>T (p.Gln417His) |
single nucleotide variant |
not provided [RCV002917457] |
Chr14:91870320 [GRCh38] Chr14:92336664 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.862+13G>A |
single nucleotide variant |
not provided [RCV002626304] |
Chr14:91882941 [GRCh38] Chr14:92349285 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.73-18C>T |
single nucleotide variant |
not provided [RCV002626492] |
Chr14:91940634 [GRCh38] Chr14:92406978 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.619+14A>G |
single nucleotide variant |
not provided [RCV002594609] |
Chr14:91891207 [GRCh38] Chr14:92357551 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1118G>A (p.Arg373His) |
single nucleotide variant |
not provided [RCV002572483] |
Chr14:91877554 [GRCh38] Chr14:92343898 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.502+15G>T |
single nucleotide variant |
not provided [RCV003059220] |
Chr14:91894935 [GRCh38] Chr14:92361279 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.905A>G (p.Gln302Arg) |
single nucleotide variant |
not provided [RCV002701412] |
Chr14:91881376 [GRCh38] Chr14:92347720 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.83C>T (p.Thr28Met) |
single nucleotide variant |
not provided [RCV002745394] |
Chr14:91940606 [GRCh38] Chr14:92406950 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.622G>T (p.Val208Leu) |
single nucleotide variant |
not provided [RCV002593906] |
Chr14:91887310 [GRCh38] Chr14:92353654 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.213G>A (p.Arg71=) |
single nucleotide variant |
not provided [RCV002625987] |
Chr14:91937113 [GRCh38] Chr14:92403457 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1335G>C (p.Gln445His) |
single nucleotide variant |
Inborn genetic diseases [RCV002650640]|not provided [RCV002650639] |
Chr14:91870236 [GRCh38] Chr14:92336580 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.73-15T>A |
single nucleotide variant |
not provided [RCV002676576] |
Chr14:91940631 [GRCh38] Chr14:92406975 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.502+19G>C |
single nucleotide variant |
not provided [RCV002602185] |
Chr14:91894931 [GRCh38] Chr14:92361275 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.863-19T>C |
single nucleotide variant |
not provided [RCV003045263] |
Chr14:91881437 [GRCh38] Chr14:92347781 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.22C>T (p.Leu8Phe) |
single nucleotide variant |
not provided [RCV002578854] |
Chr14:91942957 [GRCh38] Chr14:92409301 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.125-20G>A |
single nucleotide variant |
not provided [RCV003011547] |
Chr14:91937221 [GRCh38] Chr14:92403565 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1310T>C (p.Ile437Thr) |
single nucleotide variant |
not provided [RCV003009436] |
Chr14:91870261 [GRCh38] Chr14:92336605 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.450G>A (p.Gly150=) |
single nucleotide variant |
not provided [RCV003044210] |
Chr14:91895002 [GRCh38] Chr14:92361346 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.837G>C (p.Leu279=) |
single nucleotide variant |
not provided [RCV002576986] |
Chr14:91882979 [GRCh38] Chr14:92349323 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1285A>G (p.Ile429Val) |
single nucleotide variant |
not provided [RCV002671991] |
Chr14:91870286 [GRCh38] Chr14:92336630 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1237C>T (p.Pro413Ser) |
single nucleotide variant |
not provided [RCV002962232] |
Chr14:91870334 [GRCh38] Chr14:92336678 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.863-18G>T |
single nucleotide variant |
not provided [RCV002645910] |
Chr14:91881436 [GRCh38] Chr14:92347780 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.142A>G (p.Thr48Ala) |
single nucleotide variant |
not provided [RCV003027659] |
Chr14:91937184 [GRCh38] Chr14:92403528 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1190C>T (p.Thr397Met) |
single nucleotide variant |
not provided [RCV003087532] |
Chr14:91870381 [GRCh38] Chr14:92336725 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.295C>T (p.Leu99Phe) |
single nucleotide variant |
not provided [RCV002650486] |
Chr14:91937031 [GRCh38] Chr14:92403375 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.257C>G (p.Thr86Ser) |
single nucleotide variant |
FBLN5-related condition [RCV003410068]|not provided [RCV003061604] |
Chr14:91937069 [GRCh38] Chr14:92403413 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.357G>A (p.Met119Ile) |
single nucleotide variant |
not provided [RCV002715277] |
Chr14:91936969 [GRCh38] Chr14:92403313 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.663C>A (p.Cys221Ter) |
single nucleotide variant |
not provided [RCV002877019] |
Chr14:91887269 [GRCh38] Chr14:92353613 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.798C>T (p.Pro266=) |
single nucleotide variant |
not provided [RCV002806090] |
Chr14:91883018 [GRCh38] Chr14:92349362 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.990-4A>C |
single nucleotide variant |
not provided [RCV002646515] |
Chr14:91877686 [GRCh38] Chr14:92344030 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.561C>T (p.Ser187=) |
single nucleotide variant |
not provided [RCV002578360] |
Chr14:91891279 [GRCh38] Chr14:92357623 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.967C>G (p.Pro323Ala) |
single nucleotide variant |
not provided [RCV002649291] |
Chr14:91881314 [GRCh38] Chr14:92347658 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.502+15G>A |
single nucleotide variant |
not provided [RCV002716409] |
Chr14:91894935 [GRCh38] Chr14:92361279 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.165A>G (p.Gly55=) |
single nucleotide variant |
not provided [RCV002635931] |
Chr14:91937161 [GRCh38] Chr14:92403505 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.502+17G>A |
single nucleotide variant |
not provided [RCV002653255] |
Chr14:91894933 [GRCh38] Chr14:92361277 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.837G>T (p.Leu279=) |
single nucleotide variant |
not provided [RCV002815012] |
Chr14:91882979 [GRCh38] Chr14:92349323 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1332G>A (p.Ser444=) |
single nucleotide variant |
not provided [RCV002633189] |
Chr14:91870239 [GRCh38] Chr14:92336583 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.862+18G>A |
single nucleotide variant |
not provided [RCV002585749] |
Chr14:91882936 [GRCh38] Chr14:92349280 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1305C>T (p.Ser435=) |
single nucleotide variant |
not provided [RCV002653521] |
Chr14:91870266 [GRCh38] Chr14:92336610 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.831C>T (p.Tyr277=) |
single nucleotide variant |
not provided [RCV002657778] |
Chr14:91882985 [GRCh38] Chr14:92349329 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.659C>A (p.Thr220Asn) |
single nucleotide variant |
not provided [RCV002608750] |
Chr14:91887273 [GRCh38] Chr14:92353617 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1179C>T (p.Tyr393=) |
single nucleotide variant |
not provided [RCV002634420] |
Chr14:91877493 [GRCh38] Chr14:92343837 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.51T>G (p.Leu17=) |
single nucleotide variant |
not provided [RCV002588208] |
Chr14:91942928 [GRCh38] Chr14:92409272 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.840G>A (p.Leu280=) |
single nucleotide variant |
not provided [RCV002590154] |
Chr14:91882976 [GRCh38] Chr14:92349320 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.447C>T (p.Gly149=) |
single nucleotide variant |
not provided [RCV002721760] |
Chr14:91895005 [GRCh38] Chr14:92361349 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.990-6C>G |
single nucleotide variant |
not provided [RCV002721924] |
Chr14:91877688 [GRCh38] Chr14:92344032 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1186-17C>T |
single nucleotide variant |
not provided [RCV002680843] |
Chr14:91870402 [GRCh38] Chr14:92336746 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.989+12C>T |
single nucleotide variant |
not provided [RCV002584268] |
Chr14:91881280 [GRCh38] Chr14:92347624 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.128T>C (p.Ile43Thr) |
single nucleotide variant |
not provided [RCV002610076] |
Chr14:91937198 [GRCh38] Chr14:92403542 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.67G>A (p.Ala23Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002723206] |
Chr14:91942912 [GRCh38] Chr14:92409256 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.208C>G (p.Pro70Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003068984]|not provided [RCV003068983] |
Chr14:91937118 [GRCh38] Chr14:92403462 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NG_008254.1:g.48570_71295dup22726 |
indel |
Cutis laxa, autosomal recessive, type 1A [RCV003224772] |
|
not provided |
NM_006329.4(FBLN5):c.1161T>G (p.Asn387Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003194625] |
Chr14:91877511 [GRCh38] Chr14:92343855 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.910A>G (p.Thr304Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003357525] |
Chr14:91881371 [GRCh38] Chr14:92347715 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.863-4T>G |
single nucleotide variant |
not provided [RCV003570401] |
Chr14:91881422 [GRCh38] Chr14:92347766 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.209C>T (p.Pro70Leu) |
single nucleotide variant |
not provided [RCV003569150] |
Chr14:91937117 [GRCh38] Chr14:92403461 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.414C>T (p.Cys138=) |
single nucleotide variant |
not provided [RCV003543783] |
Chr14:91895038 [GRCh38] Chr14:92361382 [GRCh37] Chr14:14q32.12 |
likely benign |
GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3 |
copy number gain |
not provided [RCV003485051] |
Chr14:88580184..107285437 [GRCh37] Chr14:14q31.3-32.33 |
pathogenic |
NM_006329.4(FBLN5):c.323C>A (p.Ser108Tyr) |
single nucleotide variant |
not provided [RCV003872734] |
Chr14:91937003 [GRCh38] Chr14:92403347 [GRCh37] Chr14:14q32.12 |
uncertain significance |
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 |
copy number gain |
not provided [RCV003485036] |
Chr14:58894502..107227240 [GRCh37] Chr14:14q23.1-32.33 |
pathogenic |
NM_006329.4(FBLN5):c.371A>C (p.Gln124Pro) |
single nucleotide variant |
Age-related macular degeneration [RCV003447396] |
Chr14:91936955 [GRCh38] Chr14:92403299 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1312C>T (p.Arg438Ter) |
single nucleotide variant |
not provided [RCV003393561] |
Chr14:91870259 [GRCh38] Chr14:92336603 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.116A>G (p.Gln39Arg) |
single nucleotide variant |
FBLN5-related condition [RCV003412050] |
Chr14:91940573 [GRCh38] Chr14:92406917 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.955C>T (p.Arg319Cys) |
single nucleotide variant |
not provided [RCV003400624] |
Chr14:91881326 [GRCh38] Chr14:92347670 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.125-1242C>T |
single nucleotide variant |
not provided [RCV003393563] |
Chr14:91938443 [GRCh38] Chr14:92404787 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1075C>T (p.Arg359Cys) |
single nucleotide variant |
not provided [RCV003393562] |
Chr14:91877597 [GRCh38] Chr14:92343941 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.247_248insACTACTCGACCC (p.Asn82_Pro83insHisTyrSerThr) |
insertion |
not provided [RCV003390437] |
Chr14:91937078..91937079 [GRCh38] Chr14:92403422..92403423 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.101A>T (p.Asp34Val) |
single nucleotide variant |
not provided [RCV003544838] |
Chr14:91940588 [GRCh38] Chr14:92406932 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.299C>T (p.Ser100Leu) |
single nucleotide variant |
not provided [RCV003660694] |
Chr14:91937027 [GRCh38] Chr14:92403371 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.17+11G>A |
single nucleotide variant |
not provided [RCV003662279] |
Chr14:91947202 [GRCh38] Chr14:92413546 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.852A>T (p.Arg284=) |
single nucleotide variant |
not provided [RCV003572132] |
Chr14:91882964 [GRCh38] Chr14:92349308 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.564T>C (p.Tyr188=) |
single nucleotide variant |
not provided [RCV003547385] |
Chr14:91891276 [GRCh38] Chr14:92357620 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.125-17C>T |
single nucleotide variant |
not provided [RCV003716236] |
Chr14:91937218 [GRCh38] Chr14:92403562 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1046T>G (p.Leu349Trp) |
single nucleotide variant |
not provided [RCV003574302] |
Chr14:91877626 [GRCh38] Chr14:92343970 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1010A>T (p.Glu337Val) |
single nucleotide variant |
not provided [RCV003544907] |
Chr14:91877662 [GRCh38] Chr14:92344006 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.949C>A (p.Pro317Thr) |
single nucleotide variant |
not provided [RCV003689217] |
Chr14:91881332 [GRCh38] Chr14:92347676 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.844G>A (p.Asp282Asn) |
single nucleotide variant |
not provided [RCV003661545] |
Chr14:91882972 [GRCh38] Chr14:92349316 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.252C>T (p.Tyr84=) |
single nucleotide variant |
not provided [RCV003713320] |
Chr14:91937074 [GRCh38] Chr14:92403418 [GRCh37] Chr14:14q32.12 |
likely benign |
NM_006329.4(FBLN5):c.1015C>T (p.Pro339Ser) |
single nucleotide variant |
not provided [RCV003660181] |
Chr14:91877657 [GRCh38] Chr14:92344001 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1004C>T (p.Pro335Leu) |
single nucleotide variant |
not provided [RCV003877858] |
Chr14:91877668 [GRCh38] Chr14:92344012 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.254C>G (p.Ser85Trp) |
single nucleotide variant |
not provided [RCV003663159] |
Chr14:91937072 [GRCh38] Chr14:92403416 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.1283T>G (p.Val428Gly) |
single nucleotide variant |
not provided [RCV003661844] |
Chr14:91870288 [GRCh38] Chr14:92336632 [GRCh37] Chr14:14q32.12 |
uncertain significance |
NM_006329.4(FBLN5):c.124+6A>G |
single nucleotide variant |
not provided [RCV003663453] |
Chr14:91940559 [GRCh38] Chr14:92406903 [GRCh37] Chr14:14q32.12 |
uncertain significance |