| NM_012200.4(B3GAT3):c.830G>A (p.Arg277Gln) AND MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV000023536]|MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS [RCV000211049]|not provided [RCV000724894] |
Chr11:62616585 [GRCh38]
Chr11:62384057 [GRCh37]
Chr11:11q12.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3 |
copy number gain |
See cases [RCV000053620] |
Chr11:62433886..63096003 [GRCh38]
Chr11:62201358..62863475 [GRCh37]
Chr11:61957934..62620051 [NCBI36]
Chr11:11q12.3 |
pathogenic |
| GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3 |
copy number gain |
See cases [RCV000053621] |
Chr11:62452571..62862781 [GRCh38]
Chr11:62220043..62630253 [GRCh37]
Chr11:61976619..62386829 [NCBI36]
Chr11:11q12.3 |
pathogenic |
| NM_012200.4(B3GAT3):c.466C>T (p.Arg156Cys) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002952636]|not provided [RCV003236942] |
Chr11:62617139 [GRCh38]
Chr11:62384611 [GRCh37]
Chr11:62141187 [NCBI36]
Chr11:11q12.3 |
uncertain significance|not provided |
| NM_000327.3(ROM1):c.960A>C (p.Lys320Asn) |
single nucleotide variant |
Malignant melanoma [RCV000062314] |
Chr11:62614743 [GRCh38]
Chr11:62382215 [GRCh37]
Chr11:62138791 [NCBI36]
Chr11:11q12.3 |
not provided |
| NM_012200.4(B3GAT3):c.554G>A (p.Gly185Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002532019]|Larsen-like syndrome, B3GAT3 type [RCV000660631]|not provided [RCV001572059]|not specified [RCV004525997] |
Chr11:62617051 [GRCh38]
Chr11:62384523 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_153265.2(EML3):c.516G>A (p.Arg172=) |
single nucleotide variant |
Malignant melanoma [RCV000069565] |
Chr11:62610929 [GRCh38]
Chr11:62378401 [GRCh37]
Chr11:62134977 [NCBI36]
Chr11:11q12.3 |
not provided |
| NM_153265.2(EML3):c.515G>A (p.Arg172Lys) |
single nucleotide variant |
Malignant melanoma [RCV000069566] |
Chr11:62610930 [GRCh38]
Chr11:62378402 [GRCh37]
Chr11:62134978 [NCBI36]
Chr11:11q12.3 |
not provided |
| NM_012200.4(B3GAT3):c.258-50A>G |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001554209]|not provided [RCV001655891] |
Chr11:62617397 [GRCh38]
Chr11:62384869 [GRCh37]
Chr11:11q12.3 |
benign |
| GRCh38/hg38 11q12.3(chr11:62562836-62840570)x3 |
copy number gain |
See cases [RCV000134807] |
Chr11:62562836..62840570 [GRCh38]
Chr11:62330308..62608042 [GRCh37]
Chr11:62086884..62364618 [NCBI36]
Chr11:11q12.3 |
uncertain significance |
| GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3 |
copy number gain |
See cases [RCV000138411] |
Chr11:62249520..62946093 [GRCh38]
Chr11:62016992..62713565 [GRCh37]
Chr11:61773568..62470141 [NCBI36]
Chr11:11q12.3 |
pathogenic |
| NM_012200.4(B3GAT3):c.419C>T (p.Pro140Leu) AND MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, |
single nucleotide variant |
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS [RCV000211050] |
Chr11:62617186 [GRCh38]
Chr11:62384658 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_012200.4(B3GAT3):c.667G>A (p.Gly223Ser) AND MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, |
single nucleotide variant |
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS [RCV000211124] |
Chr11:62616748 [GRCh38]
Chr11:62384220 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_012200.4(B3GAT3):c.331G>A (p.Val111Met) |
single nucleotide variant |
not provided [RCV000489230] |
Chr11:62617274 [GRCh38]
Chr11:62384746 [GRCh37]
Chr11:11q12.3 |
likely pathogenic |
| NM_012200.4(B3GAT3):c.593C>T (p.Thr198Ile) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001856910]|not provided [RCV000489552] |
Chr11:62617012 [GRCh38]
Chr11:62384484 [GRCh37]
Chr11:11q12.3 |
likely pathogenic|uncertain significance |
| NM_012200.4(B3GAT3):c.130_138del (p.Leu44_Gln46del) |
deletion |
not provided [RCV000599436] |
Chr11:62620616..62620624 [GRCh38]
Chr11:62388088..62388096 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| GRCh37/hg19 11q12.3(chr11:61840997-62987330)x1 |
copy number loss |
See cases [RCV000448355] |
Chr11:61840997..62987330 [GRCh37]
Chr11:11q12.3 |
likely pathogenic |
| GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) |
copy number gain |
See cases [RCV000511729] |
Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25 |
pathogenic |
| GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 |
copy number gain |
See cases [RCV000510881] |
Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25 |
pathogenic |
| NM_012200.4(B3GAT3):c.909+263del |
deletion |
Larsen-like syndrome, B3GAT3 type [RCV000625035]|not provided [RCV001683615] |
Chr11:62616243 [GRCh38]
Chr11:62383715 [GRCh37]
Chr11:11q12.3 |
benign |
| NM_012200.4(B3GAT3):c.108C>T (p.Pro36=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV000655219]|not provided [RCV001595031] |
Chr11:62620646 [GRCh38]
Chr11:62388118 [GRCh37]
Chr11:11q12.3 |
benign|likely benign |
| NM_012200.4(B3GAT3):c.821C>A (p.Thr274Asn) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV000655220]|not provided [RCV001573178]|not specified [RCV001580072] |
Chr11:62616594 [GRCh38]
Chr11:62384066 [GRCh37]
Chr11:11q12.3 |
benign|likely benign |
| NM_012200.4(B3GAT3):c.175C>T (p.Arg59Ter) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV000700742]|not provided [RCV001592897] |
Chr11:62620579 [GRCh38]
Chr11:62388051 [GRCh37]
Chr11:11q12.3 |
pathogenic|likely pathogenic |
| NM_012200.4(B3GAT3):c.955G>C (p.Glu319Gln) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV000687488] |
Chr11:62615754 [GRCh38]
Chr11:62383226 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.909+262del |
deletion |
not provided [RCV001529625]|not specified [RCV001702119] |
Chr11:62616244 [GRCh38]
Chr11:62383716 [GRCh37]
Chr11:11q12.3 |
benign|likely benign |
| GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 |
copy number gain |
not provided [RCV000737348] |
Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25 |
pathogenic |
| GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 |
copy number gain |
not provided [RCV000749874] |
Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25 |
pathogenic |
| NM_012200.4(B3GAT3):c.909+263_909+264insG |
insertion |
not provided [RCV001680646] |
Chr11:62616242..62616243 [GRCh38]
Chr11:62383714..62383715 [GRCh37]
Chr11:11q12.3 |
benign |
| NM_012200.4(B3GAT3):c.673C>T (p.Arg225Ter) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003768289]|MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS [RCV001260983]|not provided [RCV000760862] |
Chr11:62616742 [GRCh38]
Chr11:62384214 [GRCh37]
Chr11:11q12.3 |
pathogenic|likely pathogenic |
| NM_012200.4(B3GAT3):c.314G>A (p.Arg105Gln) |
single nucleotide variant |
not provided [RCV000761775] |
Chr11:62617291 [GRCh38]
Chr11:62384763 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.671T>A (p.Leu224Gln) |
single nucleotide variant |
not provided [RCV001570319] |
Chr11:62616744 [GRCh38]
Chr11:62384216 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_012200.4(B3GAT3):c.*5G>A |
single nucleotide variant |
not provided [RCV001581712] |
Chr11:62615696 [GRCh38]
Chr11:62383168 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.846C>T (p.Ser282=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002542064] |
Chr11:62616569 [GRCh38]
Chr11:62384041 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.381C>T (p.Ala127=) |
single nucleotide variant |
not provided [RCV000906261] |
Chr11:62617224 [GRCh38]
Chr11:62384696 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.709G>A (p.Val237Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002548310]|Larsen-like syndrome, B3GAT3 type [RCV000966470]|not provided [RCV001585892] |
Chr11:62616706 [GRCh38]
Chr11:62384178 [GRCh37]
Chr11:11q12.3 |
benign|likely benign|uncertain significance |
| NM_012200.4(B3GAT3):c.582C>T (p.Asp194=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002066051]|not provided [RCV000926962] |
Chr11:62617023 [GRCh38]
Chr11:62384495 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.906T>G (p.Thr302=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV000904648]|not provided [RCV001565561] |
Chr11:62616509 [GRCh38]
Chr11:62383981 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.909+263C>G |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV000988568]|not provided [RCV001683708] |
Chr11:62616243 [GRCh38]
Chr11:62616243..62616244 [GRCh38]
Chr11:62383715 [GRCh37]
Chr11:62383715..62383716 [GRCh37]
Chr11:11q12.3 |
benign |
| NM_012200.4(B3GAT3):c.247A>T (p.Thr83Ser) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV000803881] |
Chr11:62620507 [GRCh38]
Chr11:62387979 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| GRCh37/hg19 11q12.3(chr11:62314663-62788240)x3 |
copy number gain |
not provided [RCV000849841] |
Chr11:62314663..62788240 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.213C>T (p.Pro71=) |
single nucleotide variant |
B3GAT3-related disorder [RCV003966223]|Larsen-like syndrome, B3GAT3 type [RCV002072289]|not provided [RCV001579734] |
Chr11:62620541 [GRCh38]
Chr11:62388013 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.979C>T (p.Arg327Trp) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002072053]|not provided [RCV001552466] |
Chr11:62615730 [GRCh38]
Chr11:62383202 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain significance |
| NM_012200.4(B3GAT3):c.134G>A (p.Arg45Gln) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001866246]|not provided [RCV001596519] |
Chr11:62620620 [GRCh38]
Chr11:62388092 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.284G>A (p.Arg95Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004039311]|Larsen-like syndrome, B3GAT3 type [RCV002032618]|not provided [RCV001556421] |
Chr11:62617321 [GRCh38]
Chr11:62384793 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NC_000011.10:g.62622198dup |
duplication |
not provided [RCV001577331] |
Chr11:62622196..62622197 [GRCh38]
Chr11:62389668..62389669 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.910-222T>G |
single nucleotide variant |
not provided [RCV001669708] |
Chr11:62616021 [GRCh38]
Chr11:62383493 [GRCh37]
Chr11:11q12.3 |
benign |
| NM_012200.4(B3GAT3):c.104C>T (p.Pro35Leu) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001882647]|not provided [RCV001559065] |
Chr11:62620650 [GRCh38]
Chr11:62388122 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.277C>T (p.Leu93=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV000909930] |
Chr11:62617328 [GRCh38]
Chr11:62384800 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.930G>A (p.Arg310=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV000954962]|not provided [RCV001566150] |
Chr11:62615779 [GRCh38]
Chr11:62383251 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.43G>C (p.Val15Leu) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV000904604]|not provided [RCV001593128] |
Chr11:62621905 [GRCh38]
Chr11:62389377 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain significance |
| NM_012200.4(B3GAT3):c.741G>A (p.Arg247=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV000890241]|not provided [RCV001549453] |
Chr11:62616674 [GRCh38]
Chr11:62384146 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.567C>T (p.Val189=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002065815] |
Chr11:62617038 [GRCh38]
Chr11:62384510 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.258-9C>T |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002071994]|not provided [RCV001546120] |
Chr11:62617356 [GRCh38]
Chr11:62384828 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.707T>A (p.Val236Glu) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001865982]|not provided [RCV001561563] |
Chr11:62616708 [GRCh38]
Chr11:62384180 [GRCh37]
Chr11:11q12.3 |
likely pathogenic|uncertain significance |
| NM_012200.4(B3GAT3):c.929G>A (p.Arg310Gln) |
single nucleotide variant |
See cases [RCV003128427]|not provided [RCV001659045] |
Chr11:62615780 [GRCh38]
Chr11:62383252 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.909+263C>T |
single nucleotide variant |
not provided [RCV001637532] |
Chr11:62616243 [GRCh38]
Chr11:62383715 [GRCh37]
Chr11:11q12.3 |
benign |
| NC_000011.10:g.62622146C>T |
single nucleotide variant |
not provided [RCV001707016] |
Chr11:62622146 [GRCh38]
Chr11:62389618 [GRCh37]
Chr11:11q12.3 |
benign |
| NM_012200.4(B3GAT3):c.772G>A (p.Val258Met) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002071989]|not provided [RCV001545603] |
Chr11:62616643 [GRCh38]
Chr11:62384115 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.992del (p.Pro331fs) |
deletion |
Larsen-like syndrome, B3GAT3 type [RCV001205495] |
Chr11:62615717 [GRCh38]
Chr11:62383189 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.95A>G (p.Asp32Gly) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001205542] |
Chr11:62620659 [GRCh38]
Chr11:62388131 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.704G>A (p.Arg235Gln) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001059799] |
Chr11:62616711 [GRCh38]
Chr11:62384183 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3 |
copy number gain |
not provided [RCV001006412] |
Chr11:60385382..62456278 [GRCh37]
Chr11:11q12.2-12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.505C>T (p.Arg169Trp) AND MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003326145]|MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS [RCV001260982] |
Chr11:62617100 [GRCh38]
Chr11:62384572 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_012200.4(B3GAT3):c.481C>T (p.Arg161Trp) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001257137] |
Chr11:62617124 [GRCh38]
Chr11:62384596 [GRCh37]
Chr11:11q12.3 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_012200.4(B3GAT3):c.889C>T (p.Arg297Trp) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001257138] |
Chr11:62616526 [GRCh38]
Chr11:62383998 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_012200.4(B3GAT3):c.980G>A (p.Arg327Gln) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001330408]|not provided [RCV001773663] |
Chr11:62615729 [GRCh38]
Chr11:62383201 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.58CTC[1] (p.Leu21del) |
microsatellite |
Larsen-like syndrome, B3GAT3 type [RCV001338266] |
Chr11:62621885..62621887 [GRCh38]
Chr11:62389357..62389359 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.424G>A (p.Ala142Thr) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001304473] |
Chr11:62617181 [GRCh38]
Chr11:62384653 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NC_000011.9:g.(?_59596957)_(68707199_?)dup |
duplication |
Familial temporal lobe epilepsy 8 [RCV001372442] |
Chr11:59596957..68707199 [GRCh37]
Chr11:11q12.1-13.3 |
uncertain significance |
| Single allele |
deletion |
Intellectual disability [RCV001293382] |
Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3 |
pathogenic |
| NM_012200.4(B3GAT3):c.914del (p.Leu305fs) |
deletion |
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [RCV001334684] |
Chr11:62615795 [GRCh38]
Chr11:62383267 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_012200.4(B3GAT3):c.619-6C>T |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001414910] |
Chr11:62616802 [GRCh38]
Chr11:62384274 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.32C>T (p.Ala11Val) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001308588] |
Chr11:62621916 [GRCh38]
Chr11:62389388 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.657_665del (p.Leu220_Gly222del) |
deletion |
Larsen-like syndrome, B3GAT3 type [RCV001360241] |
Chr11:62616750..62616758 [GRCh38]
Chr11:62384222..62384230 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.167C>T (p.Ala56Val) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001343609]|not provided [RCV002293526] |
Chr11:62620587 [GRCh38]
Chr11:62388059 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.302G>C (p.Ser101Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003166857]|Larsen-like syndrome, B3GAT3 type [RCV001320993]|not provided [RCV002293521] |
Chr11:62617303 [GRCh38]
Chr11:62384775 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.506G>A (p.Arg169Gln) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001345472] |
Chr11:62617099 [GRCh38]
Chr11:62384571 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.371T>A (p.Leu124Gln) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001371767] |
Chr11:62617234 [GRCh38]
Chr11:62384706 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.57C>T (p.Gly19=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001498129] |
Chr11:62621891 [GRCh38]
Chr11:62389363 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.516_517insT (p.Gly173fs) |
insertion |
Larsen-like syndrome, B3GAT3 type [RCV001390252]|not provided [RCV002246379] |
Chr11:62617088..62617089 [GRCh38]
Chr11:62384560..62384561 [GRCh37]
Chr11:11q12.3 |
pathogenic|likely pathogenic |
| NM_000327.4(ROM1):c.686G>A (p.Arg229His) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001519710]|Retinitis pigmentosa [RCV000376751]|not provided [RCV000986135]|not specified [RCV000175584] |
Chr11:62614353 [GRCh38]
Chr11:62381825 [GRCh37]
Chr11:11q12.3 |
benign|likely benign |
| NM_012200.4(B3GAT3):c.1A>T (p.Met1Leu) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002568864]|not provided [RCV001528207] |
Chr11:62621947 [GRCh38]
Chr11:62389419 [GRCh37]
Chr11:11q12.3 |
pathogenic|likely pathogenic |
| NM_012200.4(B3GAT3):c.2T>C (p.Met1Thr) |
single nucleotide variant |
B3GAT3-related disorder [RCV004757468]|Larsen-like syndrome, B3GAT3 type [RCV002570835]|not provided [RCV001585095] |
Chr11:62621946 [GRCh38]
Chr11:62389418 [GRCh37]
Chr11:11q12.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_012200.4(B3GAT3):c.910-191G>A |
single nucleotide variant |
not provided [RCV001724491] |
Chr11:62615990 [GRCh38]
Chr11:62383462 [GRCh37]
Chr11:11q12.3 |
benign |
| NM_012200.4(B3GAT3):c.909+262T>G |
single nucleotide variant |
not provided [RCV001678931] |
Chr11:62616244 [GRCh38]
Chr11:62383716 [GRCh37]
Chr11:11q12.3 |
benign |
| NM_012200.4(B3GAT3):c.909+270_909+271del |
microsatellite |
not provided [RCV001529142]|not specified [RCV001727870] |
Chr11:62616235..62616236 [GRCh38]
Chr11:62383707..62383708 [GRCh37]
Chr11:11q12.3 |
benign|likely benign |
| NM_012200.4(B3GAT3):c.837C>A (p.His279Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004601519]|not provided [RCV001726843] |
Chr11:62616578 [GRCh38]
Chr11:62384050 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.21C>G (p.Asn7Lys) |
single nucleotide variant |
not provided [RCV001754796] |
Chr11:62621927 [GRCh38]
Chr11:62389399 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.436C>T (p.Arg146Trp) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002032732]|not provided [RCV001732840] |
Chr11:62617169 [GRCh38]
Chr11:62384641 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.349C>T (p.Pro117Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004040290]|not provided [RCV001773038] |
Chr11:62617256 [GRCh38]
Chr11:62384728 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.743C>G (p.Pro248Arg) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001771777]|not provided [RCV003238050] |
Chr11:62616672 [GRCh38]
Chr11:62384144 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.838C>T (p.Leu280=) |
single nucleotide variant |
not provided [RCV001800015] |
Chr11:62616577 [GRCh38]
Chr11:62384049 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.806C>T (p.Ala269Val) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002540497]|not provided [RCV001763778] |
Chr11:62616609 [GRCh38]
Chr11:62384081 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.202C>T (p.Pro68Ser) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002482314]|not provided [RCV001787021] |
Chr11:62620552 [GRCh38]
Chr11:62388024 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.619-1G>A |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002022647] |
Chr11:62616797 [GRCh38]
Chr11:62384269 [GRCh37]
Chr11:11q12.3 |
likely pathogenic |
| NM_012200.4(B3GAT3):c.716T>A (p.Phe239Tyr) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001983402] |
Chr11:62616699 [GRCh38]
Chr11:62384171 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.106C>A (p.Pro36Thr) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001891731] |
Chr11:62620648 [GRCh38]
Chr11:62388120 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.738C>T (p.Ser246=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001969199] |
Chr11:62616677 [GRCh38]
Chr11:62384149 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.590A>C (p.Asn197Thr) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002025050] |
Chr11:62617015 [GRCh38]
Chr11:62384487 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.65A>G (p.Tyr22Cys) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002052158] |
Chr11:62621883 [GRCh38]
Chr11:62389355 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.467G>A (p.Arg156His) |
single nucleotide variant |
B3GAT3-related disorder [RCV004757494]|Larsen-like syndrome, B3GAT3 type [RCV001945154] |
Chr11:62617138 [GRCh38]
Chr11:62384610 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.245C>T (p.Pro82Leu) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001844323] |
Chr11:62620509 [GRCh38]
Chr11:62387981 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_012200.4(B3GAT3):c.259C>T (p.Leu87=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001911260] |
Chr11:62617346 [GRCh38]
Chr11:62384818 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.283C>T (p.Arg95Ter) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001946744]|not provided [RCV003170176] |
Chr11:62617322 [GRCh38]
Chr11:62384794 [GRCh37]
Chr11:11q12.3 |
pathogenic|likely pathogenic |
| NM_012200.4(B3GAT3):c.971G>A (p.Arg324Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004042902]|Larsen-like syndrome, B3GAT3 type [RCV001984838] |
Chr11:62615738 [GRCh38]
Chr11:62383210 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.31G>A (p.Ala11Thr) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001891796] |
Chr11:62621917 [GRCh38]
Chr11:62389389 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.325C>G (p.Leu109Val) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002002867] |
Chr11:62617280 [GRCh38]
Chr11:62384752 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.126G>C (p.Glu42Asp) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001986800] |
Chr11:62620628 [GRCh38]
Chr11:62388100 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.568G>A (p.Val190Ile) |
single nucleotide variant |
B3GAT3-related disorder [RCV003968681]|Larsen-like syndrome, B3GAT3 type [RCV002042691] |
Chr11:62617037 [GRCh38]
Chr11:62384509 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.998T>C (p.Ile333Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004042522]|Larsen-like syndrome, B3GAT3 type [RCV001947603] |
Chr11:62615711 [GRCh38]
Chr11:62383183 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.968A>T (p.Gln323Leu) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001889838] |
Chr11:62615741 [GRCh38]
Chr11:62383213 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.17A>G (p.Lys6Arg) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001890813] |
Chr11:62621931 [GRCh38]
Chr11:62389403 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.1000G>A (p.Glu334Lys) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001915961] |
Chr11:62615709 [GRCh38]
Chr11:62383181 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.290C>T (p.Ser97Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003170496]|Larsen-like syndrome, B3GAT3 type [RCV001996176] |
Chr11:62617315 [GRCh38]
Chr11:62384787 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.685C>T (p.Pro229Ser) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002016241] |
Chr11:62616730 [GRCh38]
Chr11:62384202 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.184C>T (p.Pro62Ser) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001937103] |
Chr11:62620570 [GRCh38]
Chr11:62388042 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.909G>T (p.Arg303=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001921959] |
Chr11:62616506 [GRCh38]
Chr11:62383978 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.910-7G>A |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001918391] |
Chr11:62615806 [GRCh38]
Chr11:62383278 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.416C>T (p.Thr139Met) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002027700] |
Chr11:62617189 [GRCh38]
Chr11:62384661 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.356C>T (p.Pro119Leu) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001917632] |
Chr11:62617249 [GRCh38]
Chr11:62384721 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NC_000011.9:g.(?_62380754)_(62472984_?)dup |
duplication |
Larsen-like syndrome, B3GAT3 type [RCV001918889] |
Chr11:62380754..62472984 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.632G>A (p.Arg211His) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001879431]|not provided [RCV004693839] |
Chr11:62616783 [GRCh38]
Chr11:62384255 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.866T>C (p.Val289Ala) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001903193] |
Chr11:62616549 [GRCh38]
Chr11:62384021 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.909+20C>T |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001902424] |
Chr11:62616486 [GRCh38]
Chr11:62383958 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain significance |
| NM_012200.4(B3GAT3):c.253G>A (p.Ala85Thr) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002031428] |
Chr11:62620501 [GRCh38]
Chr11:62387973 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.526G>A (p.Gly176Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004043662]|Larsen-like syndrome, B3GAT3 type [RCV001981577] |
Chr11:62617079 [GRCh38]
Chr11:62384551 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.952C>T (p.Gln318Ter) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001999317] |
Chr11:62615757 [GRCh38]
Chr11:62383229 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.548C>T (p.Pro183Leu) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002018799] |
Chr11:62617057 [GRCh38]
Chr11:62384529 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.176G>A (p.Arg59Gln) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001990031] |
Chr11:62620578 [GRCh38]
Chr11:62388050 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.496G>T (p.Asp166Tyr) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV001989146] |
Chr11:62617109 [GRCh38]
Chr11:62384581 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.910-3C>T |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002051248] |
Chr11:62615802 [GRCh38]
Chr11:62383274 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.684C>T (p.Gly228=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002092459] |
Chr11:62616731 [GRCh38]
Chr11:62384203 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.258-20G>A |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002105315] |
Chr11:62617367 [GRCh38]
Chr11:62384839 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.257+20C>G |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002148927] |
Chr11:62620477 [GRCh38]
Chr11:62387949 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.979C>A (p.Arg327=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002076017] |
Chr11:62615730 [GRCh38]
Chr11:62383202 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.285A>G (p.Arg95=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002104689] |
Chr11:62617320 [GRCh38]
Chr11:62384792 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.810A>G (p.Gln270=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002108290] |
Chr11:62616605 [GRCh38]
Chr11:62384077 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.678C>T (p.Phe226=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002080286] |
Chr11:62616737 [GRCh38]
Chr11:62384209 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.619-11A>G |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002197188] |
Chr11:62616807 [GRCh38]
Chr11:62384279 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.771C>T (p.Ala257=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002167281] |
Chr11:62616644 [GRCh38]
Chr11:62384116 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.618+16G>A |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002078335] |
Chr11:62616971 [GRCh38]
Chr11:62384443 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.69G>T (p.Ala23=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002193701] |
Chr11:62621879 [GRCh38]
Chr11:62389351 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.619-12G>A |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002108865] |
Chr11:62616808 [GRCh38]
Chr11:62384280 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.345G>A (p.Glu115=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002082972] |
Chr11:62617260 [GRCh38]
Chr11:62384732 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.666C>T (p.Gly222=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002201662] |
Chr11:62616749 [GRCh38]
Chr11:62384221 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.257+17A>G |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002220495] |
Chr11:62620480 [GRCh38]
Chr11:62387952 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.168G>A (p.Ala56=) |
single nucleotide variant |
B3GAT3-related disorder [RCV003895827]|Larsen-like syndrome, B3GAT3 type [RCV002141800] |
Chr11:62620586 [GRCh38]
Chr11:62388058 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.243C>T (p.Thr81=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002155477] |
Chr11:62620511 [GRCh38]
Chr11:62387983 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.619-10C>T |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002100931] |
Chr11:62616806 [GRCh38]
Chr11:62384278 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.822C>T (p.Thr274=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002176694] |
Chr11:62616593 [GRCh38]
Chr11:62384065 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.82+13G>T |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002220220] |
Chr11:62621853 [GRCh38]
Chr11:62389325 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.486C>T (p.Asn162=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002120294] |
Chr11:62617119 [GRCh38]
Chr11:62384591 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.372G>T (p.Leu124=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002179770] |
Chr11:62617233 [GRCh38]
Chr11:62384705 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.462T>C (p.His154=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002156858] |
Chr11:62617143 [GRCh38]
Chr11:62384615 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NC_000011.9:g.(?_58916346)_(64972349_?)dup |
duplication |
Leukocyte adhesion deficiency 3 [RCV003113394]|not provided [RCV003113393] |
Chr11:58916346..64972349 [GRCh37]
Chr11:11q12.1-13.1 |
uncertain significance|no classifications from unflagged records |
| NM_012200.4(B3GAT3):c.357G>A (p.Pro119=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003118919] |
Chr11:62617248 [GRCh38]
Chr11:62384720 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.*10del |
deletion |
not provided [RCV002269450] |
Chr11:62615691 [GRCh38]
Chr11:62383163 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.778C>G (p.Leu260Val) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002296962] |
Chr11:62616637 [GRCh38]
Chr11:62384109 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.134G>T (p.Arg45Leu) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003097809]|not provided [RCV002292127] |
Chr11:62620620 [GRCh38]
Chr11:62388092 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 |
copy number gain |
MISSED ABORTION [RCV002282973] |
Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25 |
pathogenic |
| NM_012200.4(B3GAT3):c.604G>T (p.Glu202Ter) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002776369] |
Chr11:62617001 [GRCh38]
Chr11:62384473 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_012200.4(B3GAT3):c.517G>A (p.Gly173Ser) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002994047] |
Chr11:62617088 [GRCh38]
Chr11:62384560 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.112C>T (p.Arg38Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002840184] |
Chr11:62620642 [GRCh38]
Chr11:62388114 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.506G>T (p.Arg169Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002836742] |
Chr11:62617099 [GRCh38]
Chr11:62384571 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.82G>A (p.Gly28Ser) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002771551] |
Chr11:62621866 [GRCh38]
Chr11:62389338 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.350C>T (p.Pro117Leu) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002975549] |
Chr11:62617255 [GRCh38]
Chr11:62384727 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.1006T>G (p.Ter336Gly) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002996557] |
Chr11:62615703 [GRCh38]
Chr11:62383175 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.803A>G (p.Asn268Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003164753]|Larsen-like syndrome, B3GAT3 type [RCV002569418]|not provided [RCV002508722] |
Chr11:62616612 [GRCh38]
Chr11:62384084 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.237T>C (p.Val79=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002681722] |
Chr11:62620517 [GRCh38]
Chr11:62387989 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.465C>T (p.Pro155=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002774903] |
Chr11:62617140 [GRCh38]
Chr11:62384612 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.178C>G (p.Arg60Gly) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002904126] |
Chr11:62620576 [GRCh38]
Chr11:62388048 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.83-11C>T |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003081706] |
Chr11:62620682 [GRCh38]
Chr11:62388154 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.970C>T (p.Arg324Trp) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002785263] |
Chr11:62615739 [GRCh38]
Chr11:62383211 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.414C>G (p.Leu138=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003078823] |
Chr11:62617191 [GRCh38]
Chr11:62384663 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.694C>G (p.Gln232Glu) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002952647] |
Chr11:62616721 [GRCh38]
Chr11:62384193 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.390C>T (p.Leu130=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003002785] |
Chr11:62617215 [GRCh38]
Chr11:62384687 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.135del (p.Gln46fs) |
deletion |
Larsen-like syndrome, B3GAT3 type [RCV002796862] |
Chr11:62620619 [GRCh38]
Chr11:62388091 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_012200.4(B3GAT3):c.597C>T (p.Tyr199=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003039185] |
Chr11:62617008 [GRCh38]
Chr11:62384480 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.908G>A (p.Arg303Gln) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002620327] |
Chr11:62616507 [GRCh38]
Chr11:62383979 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.823G>A (p.Ala275Thr) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002659449] |
Chr11:62616592 [GRCh38]
Chr11:62384064 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.560A>C (p.Gln187Pro) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002885769] |
Chr11:62617045 [GRCh38]
Chr11:62384517 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.947T>G (p.Met316Arg) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002760846] |
Chr11:62615762 [GRCh38]
Chr11:62383234 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.1A>G (p.Met1Val) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003037402] |
Chr11:62621947 [GRCh38]
Chr11:62389419 [GRCh37]
Chr11:11q12.3 |
likely pathogenic |
| NM_012200.4(B3GAT3):c.83-20T>C |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003100560] |
Chr11:62620691 [GRCh38]
Chr11:62388163 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.229A>G (p.Ile77Val) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002800037] |
Chr11:62620525 [GRCh38]
Chr11:62387997 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.474C>T (p.Val158=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002637947] |
Chr11:62617131 [GRCh38]
Chr11:62384603 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.240T>C (p.Val80=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002867893] |
Chr11:62620514 [GRCh38]
Chr11:62387986 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.7CTGAAG[3] (p.Lys6_Asn7insLeuLys) |
microsatellite |
Larsen-like syndrome, B3GAT3 type [RCV002766609] |
Chr11:62621929..62621930 [GRCh38]
Chr11:62389401..62389402 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.618+11G>A |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003040444] |
Chr11:62616976 [GRCh38]
Chr11:62384448 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.871C>A (p.Pro291Thr) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002624368]|not provided [RCV003481402] |
Chr11:62616544 [GRCh38]
Chr11:62384016 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.178C>T (p.Arg60Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002744320] |
Chr11:62620576 [GRCh38]
Chr11:62388048 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.876G>C (p.Lys292Asn) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002932853] |
Chr11:62616539 [GRCh38]
Chr11:62384011 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.619-6dup |
duplication |
Larsen-like syndrome, B3GAT3 type [RCV002595595] |
Chr11:62616801..62616802 [GRCh38]
Chr11:62384273..62384274 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.44T>C (p.Val15Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002793307] |
Chr11:62621904 [GRCh38]
Chr11:62389376 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.368G>A (p.Gly123Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002940660] |
Chr11:62617237 [GRCh38]
Chr11:62384709 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.619-19C>T |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003047345] |
Chr11:62616815 [GRCh38]
Chr11:62384287 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.279G>A (p.Leu93=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003064944] |
Chr11:62617326 [GRCh38]
Chr11:62384798 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.313C>T (p.Arg105Trp) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003060389] |
Chr11:62617292 [GRCh38]
Chr11:62384764 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.202C>G (p.Pro68Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003065365]|Larsen-like syndrome, B3GAT3 type [RCV003065366] |
Chr11:62620552 [GRCh38]
Chr11:62388024 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.681G>A (p.Glu227=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003088831] |
Chr11:62616734 [GRCh38]
Chr11:62384206 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.743C>T (p.Pro248Leu) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003088898] |
Chr11:62616672 [GRCh38]
Chr11:62384144 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.459T>C (p.Val153=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002933482] |
Chr11:62617146 [GRCh38]
Chr11:62384618 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.514G>A (p.Gly172Arg) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002650043] |
Chr11:62617091 [GRCh38]
Chr11:62384563 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.619-5G>A |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002602502] |
Chr11:62616801 [GRCh38]
Chr11:62384273 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.570C>T (p.Val190=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002646221] |
Chr11:62617035 [GRCh38]
Chr11:62384507 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.63C>G (p.Leu21=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002658252] |
Chr11:62621885 [GRCh38]
Chr11:62389357 [GRCh37]
Chr11:11q12.3 |
likely benign|uncertain significance |
| NM_012200.4(B3GAT3):c.444C>T (p.Gly148=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003068631] |
Chr11:62617161 [GRCh38]
Chr11:62384633 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.126_154dup (p.Ser52delinsCysSerTyrGlyArgArgIleTer) |
duplication |
Larsen-like syndrome, B3GAT3 type [RCV002814997] |
Chr11:62620599..62620600 [GRCh38]
Chr11:62388071..62388072 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_012200.4(B3GAT3):c.725C>T (p.Ala242Val) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002943855] |
Chr11:62616690 [GRCh38]
Chr11:62384162 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.340G>A (p.Ala114Thr) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002606418] |
Chr11:62617265 [GRCh38]
Chr11:62384737 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.699C>T (p.Asp233=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003070216] |
Chr11:62616716 [GRCh38]
Chr11:62384188 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.211C>G (p.Pro71Ala) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002586742] |
Chr11:62620543 [GRCh38]
Chr11:62388015 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.653T>G (p.Val218Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002680319] |
Chr11:62616762 [GRCh38]
Chr11:62384234 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.74T>C (p.Val25Ala) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002582753] |
Chr11:62621874 [GRCh38]
Chr11:62389346 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.82+3G>A |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003066789] |
Chr11:62621863 [GRCh38]
Chr11:62389335 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.910-10C>T |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002588726] |
Chr11:62615809 [GRCh38]
Chr11:62383281 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.601C>T (p.Arg201Trp) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV002611269] |
Chr11:62617004 [GRCh38]
Chr11:62384476 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.492C>T (p.Ala164=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003071791] |
Chr11:62617113 [GRCh38]
Chr11:62384585 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.907C>T (p.Arg303Trp) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003069587] |
Chr11:62616508 [GRCh38]
Chr11:62383980 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.422A>T (p.Lys141Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003217661] |
Chr11:62617183 [GRCh38]
Chr11:62384655 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.347G>A (p.Gly116Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003191450] |
Chr11:62617258 [GRCh38]
Chr11:62384730 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.929G>C (p.Arg310Pro) |
single nucleotide variant |
not provided [RCV003323055] |
Chr11:62615780 [GRCh38]
Chr11:62383252 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.986C>G (p.Ser329Ter) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003326202] |
Chr11:62615723 [GRCh38]
Chr11:62383195 [GRCh37]
Chr11:11q12.3 |
likely pathogenic |
| NM_012200.4(B3GAT3):c.85C>T (p.Gln29Ter) |
single nucleotide variant |
not provided [RCV003480486] |
Chr11:62620669 [GRCh38]
Chr11:62388141 [GRCh37]
Chr11:11q12.3 |
likely pathogenic |
| GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3 |
copy number gain |
not provided [RCV003484842] |
Chr11:59923608..76272324 [GRCh37]
Chr11:11q12.2-13.5 |
pathogenic |
| NM_012200.4(B3GAT3):c.910-13C>T |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003849132] |
Chr11:62615812 [GRCh38]
Chr11:62383284 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.618+8C>T |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003525841] |
Chr11:62616979 [GRCh38]
Chr11:62384451 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.910-16A>T |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003527322] |
Chr11:62615815 [GRCh38]
Chr11:62383287 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.985T>C (p.Ser329Pro) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003527531] |
Chr11:62615724 [GRCh38]
Chr11:62383196 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.303C>T (p.Ser101=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003526496] |
Chr11:62617302 [GRCh38]
Chr11:62384774 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.300G>A (p.Leu100=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003527213] |
Chr11:62617305 [GRCh38]
Chr11:62384777 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.819C>T (p.Ser273=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003526834] |
Chr11:62616596 [GRCh38]
Chr11:62384068 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.829C>T (p.Arg277Trp) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003526402] |
Chr11:62616586 [GRCh38]
Chr11:62384058 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.162G>T (p.Leu54=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003526563] |
Chr11:62620592 [GRCh38]
Chr11:62388064 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.123C>T (p.Ala41=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003851962] |
Chr11:62620631 [GRCh38]
Chr11:62388103 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.11A>G (p.Lys4Arg) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003839623] |
Chr11:62621937 [GRCh38]
Chr11:62389409 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.910-6G>A |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003641888] |
Chr11:62615805 [GRCh38]
Chr11:62383277 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.910-9C>T |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003641890] |
Chr11:62615808 [GRCh38]
Chr11:62383280 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.82+10G>T |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003845229] |
Chr11:62621856 [GRCh38]
Chr11:62389328 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.24G>A (p.Val8=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003642072] |
Chr11:62621924 [GRCh38]
Chr11:62389396 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.150del (p.Ile51fs) |
deletion |
Larsen-like syndrome, B3GAT3 type [RCV003641847] |
Chr11:62620604 [GRCh38]
Chr11:62388076 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_012200.4(B3GAT3):c.735C>T (p.Pro245=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003641447] |
Chr11:62616680 [GRCh38]
Chr11:62384152 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.60C>T (p.Leu20=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003640504] |
Chr11:62621888 [GRCh38]
Chr11:62389360 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.36C>A (p.Tyr12Ter) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003641283] |
Chr11:62621912 [GRCh38]
Chr11:62389384 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_012200.4(B3GAT3):c.334G>T (p.Glu112Ter) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003641930] |
Chr11:62617271 [GRCh38]
Chr11:62384743 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_012200.4(B3GAT3):c.82+18G>A |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003642240] |
Chr11:62621848 [GRCh38]
Chr11:62389320 [GRCh37]
Chr11:11q12.3 |
likely benign |
| GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3 |
copy number gain |
not specified [RCV003986918] |
Chr11:50398499..63924462 [GRCh37]
Chr11:11p11.12-q13.1 |
likely pathogenic |
| NM_012200.4(B3GAT3):c.82+15G>T |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003841998] |
Chr11:62621851 [GRCh38]
Chr11:62389323 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.981G>A (p.Arg327=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003854184] |
Chr11:62615728 [GRCh38]
Chr11:62383200 [GRCh37]
Chr11:11q12.3 |
likely benign |
| GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3 |
copy number gain |
not specified [RCV003986944] |
Chr11:56895955..69295402 [GRCh37]
Chr11:11q12.1-13.3 |
likely pathogenic |
| NM_012200.4(B3GAT3):c.576T>C (p.Phe192=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003641874] |
Chr11:62617029 [GRCh38]
Chr11:62384501 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.298_301del (p.Leu100fs) |
deletion |
Larsen-like syndrome, B3GAT3 type [RCV003858993] |
Chr11:62617304..62617307 [GRCh38]
Chr11:62384776..62384779 [GRCh37]
Chr11:11q12.3 |
pathogenic |
| NM_012200.4(B3GAT3):c.480G>A (p.Gln160=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003859411] |
Chr11:62617125 [GRCh38]
Chr11:62384597 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.512G>C (p.Arg171Thr) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003641912] |
Chr11:62617093 [GRCh38]
Chr11:62384565 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.619-10C>A |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003640724] |
Chr11:62616806 [GRCh38]
Chr11:62384278 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.96C>T (p.Asp32=) |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003642258] |
Chr11:62620658 [GRCh38]
Chr11:62388130 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.82+11del |
deletion |
Larsen-like syndrome, B3GAT3 type [RCV003845228] |
Chr11:62621855 [GRCh38]
Chr11:62389327 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.82+1G>A |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003642140] |
Chr11:62621865 [GRCh38]
Chr11:62389337 [GRCh37]
Chr11:11q12.3 |
likely pathogenic |
| NM_012200.4(B3GAT3):c.619-9C>T |
single nucleotide variant |
Larsen-like syndrome, B3GAT3 type [RCV003641352] |
Chr11:62616805 [GRCh38]
Chr11:62384277 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.691G>A (p.Val231Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004423465] |
Chr11:62616724 [GRCh38]
Chr11:62384196 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.695A>G (p.Gln232Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004423466] |
Chr11:62616720 [GRCh38]
Chr11:62384192 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.177A>C (p.Arg59=) |
single nucleotide variant |
B3GAT3-related disorder [RCV003899056] |
Chr11:62620577 [GRCh38]
Chr11:62388049 [GRCh37]
Chr11:11q12.3 |
likely benign |
| NM_012200.4(B3GAT3):c.124G>A (p.Glu42Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004599840] |
Chr11:62620630 [GRCh38]
Chr11:62388102 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NC_000011.9:g.(?_62105450)_(62414071_?)dup |
duplication |
not provided [RCV004580325] |
Chr11:62105450..62414071 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.67G>A (p.Ala23Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004599858] |
Chr11:62621881 [GRCh38]
Chr11:62389353 [GRCh37]
Chr11:11q12.3 |
uncertain significance |
| NM_012200.4(B3GAT3):c.548C>G (p.Pro183Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004599831] |
Chr11:62617057 [GRCh38]
Chr11:62384529 [GRCh37]
Chr11:11q12.3 |
likely benign |
