| NM_022369.3(STRA6):c.597+6C>T |
single nucleotide variant |
Microphthalmia syndromic 9 [RCV000548630] |
Chr15:74195296 [GRCh38]
Chr15:74487637 [GRCh37]
Chr15:15q24.1 |
likely benign |
| NM_022369.3(STRA6):c.1391T>G (p.Leu464Arg) |
single nucleotide variant |
Microphthalmia syndromic 9 [RCV000546496] |
Chr15:74182370 [GRCh38]
Chr15:74474711 [GRCh37]
Chr15:15q24.1 |
likely benign |
| NM_001142617.1(STRA6):c.910_911delGGinsAA (p.Gly304Lys) |
indel |
Microphthalmia syndromic 9 [RCV000032958]|Microphthalmia, isolated, with coloboma 8 [RCV000032957]|not provided [RCV000724612] |
Chr15:74190856..74190857 [GRCh38]
Chr15:74483197..74483198 [GRCh37]
Chr15:15q24.1 |
pathogenic |
| NM_022369.3(STRA6):c.147del (p.Gly50Alafs) |
deletion |
Microphthalmia syndromic 9 [RCV000001193] |
Chr15:74197785 [GRCh38]
Chr15:74490126 [GRCh37]
Chr15:15q24.1 |
pathogenic |
| NM_022369.3(STRA6):c.50_52delACTinsCC (p.Asp17Alafs) |
indel |
Microphthalmia syndromic 9 [RCV000001198] |
Chr15:74202216..74202218 [GRCh38]
Chr15:74494557..74494559 [GRCh37]
Chr15:15q24.1 |
pathogenic |
| NM_001142617.1(STRA6):c.527dup (p.Ser177Glnfs) |
duplication |
Microphthalmia syndromic 9 [RCV000001199] |
Chr15:74195372 [GRCh38]
Chr15:74487713 [GRCh37]
Chr15:15q24.1 |
pathogenic |
| NM_001142617.1(STRA6):c.35_36dup (p.Gly13Profs) |
duplication |
Microphthalmia syndromic 9 [RCV000001200] |
Chr15:74202232..74202233 [GRCh38]
Chr15:74494573..74494574 [GRCh37]
Chr15:15q24.1 |
pathogenic |
| NM_001142617.1(STRA6):c.1917G>A (p.Trp639Ter) |
single nucleotide variant |
not provided [RCV000722491] |
Chr15:74180167 [GRCh38]
Chr15:74472508 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.344_345delGT (p.Cys115Phefs) |
deletion |
not provided [RCV000520654] |
Chr15:74196069..74196070 [GRCh38]
Chr15:74488410..74488411 [GRCh37]
Chr15:15q24.1 |
likely pathogenic |
| NM_001142617.1(STRA6):c.878C>T (p.Pro293Leu) |
single nucleotide variant |
Microphthalmia syndromic 9 [RCV000001192] |
Chr15:74190889 [GRCh38]
Chr15:74483230 [GRCh37]
Chr15:15q24.1 |
pathogenic |
| NM_001142617.1(STRA6):c.1963C>T (p.Arg655Cys) |
single nucleotide variant |
Microphthalmia syndromic 9 [RCV000001194] |
Chr15:74180121 [GRCh38]
Chr15:74472462 [GRCh37]
Chr15:15q24.1 |
pathogenic |
| NM_001142617.1(STRA6):c.1931C>T (p.Thr644Met) |
single nucleotide variant |
Microphthalmia syndromic 9 [RCV000001195] |
Chr15:74180153 [GRCh38]
Chr15:74472494 [GRCh37]
Chr15:15q24.1 |
pathogenic |
| NM_001142617.1(STRA6):c.269C>T (p.Pro90Leu) |
single nucleotide variant |
Microphthalmia syndromic 9 [RCV000001196] |
Chr15:74196145 [GRCh38]
Chr15:74488486 [GRCh37]
Chr15:15q24.1 |
pathogenic |
| NM_001142617.1(STRA6):c.961A>C (p.Thr321Pro) |
single nucleotide variant |
Microphthalmia syndromic 9 [RCV000001197] |
Chr15:74189244 [GRCh38]
Chr15:74481585 [GRCh37]
Chr15:15q24.1 |
pathogenic |
| NM_001142617.1(STRA6):c.69G>A (p.Trp23Ter) |
single nucleotide variant |
Microphthalmia syndromic 9 [RCV000001201] |
Chr15:74202199 [GRCh38]
Chr15:74494540 [GRCh37]
Chr15:15q24.1 |
pathogenic |
| NM_001142617.1(STRA6):c.1521-1G>A |
single nucleotide variant |
Microphthalmia syndromic 9 [RCV000074414] |
Chr15:74181459 [GRCh38]
Chr15:74473800 [GRCh37]
Chr15:15q24.1 |
pathogenic |
| NM_001142617.1(STRA6):c.1678G>C (p.Asp560His) |
single nucleotide variant |
Microphthalmia syndromic 9 [RCV000033165] |
Chr15:74181301 [GRCh38]
Chr15:74473642 [GRCh37]
Chr15:15q24.1 |
pathogenic |
| NM_022369.3(STRA6):c.1964G>A (p.Arg655His) |
single nucleotide variant |
Microphthalmia syndromic 9 [RCV000033166]|STRA6-Related Disorder [RCV000509414]|not provided [RCV000493344] |
Chr15:74180120 [GRCh38]
Chr15:74472461 [GRCh37]
Chr15:15q24.1 |
pathogenic|likely pathogenic|not provided |
| GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051128]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051128]|See cases [RCV000051128] |
Chr15:72671629..75662276 [GRCh38]
Chr15:72963970..75954617 [GRCh37]
Chr15:70751023..73741672 [NCBI36]
Chr15:15q24.1-24.2 |
pathogenic |
| GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3 |
copy number gain |
Global developmental delay [RCV000051821]|See cases [RCV000051821] |
Chr15:72629028..75242989 [GRCh38]
Chr15:72921369..75535330 [GRCh37]
Chr15:70708423..73322383 [NCBI36]
Chr15:15q24.1-24.2 |
pathogenic |
| GRCh38/hg38 15q23-24.2(chr15:70788624-76057736)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|See cases [RCV000053219] |
Chr15:70788624..76057736 [GRCh38]
Chr15:71080963..76350077 [GRCh37]
Chr15:68868017..74137132 [NCBI36]
Chr15:15q23-24.2 |
pathogenic |
| GRCh38/hg38 15q24.1-24.2(chr15:74106871-75727625)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053220]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053220]|See cases [RCV000053220] |
Chr15:74106871..75727625 [GRCh38]
Chr15:74399212..76019966 [GRCh37]
Chr15:72186265..73807021 [NCBI36]
Chr15:15q24.1-24.2 |
pathogenic |
| NM_001142617.1(STRA6):c.1419-1G>A |
single nucleotide variant |
Malignant melanoma [RCV000070884] |
Chr15:74182263 [GRCh38]
Chr15:74474604 [GRCh37]
Chr15:72261657 [NCBI36]
Chr15:15q24.1 |
not provided |
| NM_001142617.1(STRA6):c.114G>A (p.Gly38=) |
single nucleotide variant |
Malignant melanoma [RCV000070885] |
Chr15:74197818 [GRCh38]
Chr15:74490159 [GRCh37]
Chr15:72277212 [NCBI36]
Chr15:15q24.1 |
not provided |
| NM_005545.3(ISLR):c.564C>T (p.Ile188=) |
single nucleotide variant |
Malignant melanoma [RCV000062922] |
Chr15:74175422 [GRCh38]
Chr15:74467763 [GRCh37]
Chr15:72254816 [NCBI36]
Chr15:15q24.1 |
not provided |
| NM_005545.3(ISLR):c.917C>T (p.Ala306Val) |
single nucleotide variant |
Malignant melanoma [RCV000070883] |
Chr15:74175775 [GRCh38]
Chr15:74468116 [GRCh37]
Chr15:72255169 [NCBI36]
Chr15:15q24.1 |
not provided |
| NM_022369.3(STRA6):c.1385delA (p.Asn462Thrfs) |
deletion |
Microphthalmia syndromic 9 [RCV000174950]|not provided [RCV000413306] |
Chr15:74182376 [GRCh38]
Chr15:74474717 [GRCh37]
Chr15:15q24.1 |
pathogenic |
| NM_022369.3(STRA6):c.1223G>A (p.Arg408Gln) |
single nucleotide variant |
Microphthalmia syndromic 9 [RCV000639564]|Syndromic Microphthalmia, Recessive [RCV000271927]|not specified [RCV000174795] |
Chr15:74183933 [GRCh38]
Chr15:74476274 [GRCh37]
Chr15:15q24.1 |
benign|likely benign|uncertain significance |
| GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1 |
copy number loss |
See cases [RCV000137347] |
Chr15:72671629..75199803 [GRCh38]
Chr15:72963970..75492144 [GRCh37]
Chr15:70751023..73279197 [NCBI36]
Chr15:15q24.1-24.2 |
likely pathogenic|likely benign |
| NM_001142617.1(STRA6):c.1605C>T (p.Leu535=) |
single nucleotide variant |
not specified [RCV000175230] |
Chr15:74181374 [GRCh38]
Chr15:74473715 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1 |
copy number loss |
See cases [RCV000141666] |
Chr15:70025300..78705993 [GRCh38]
Chr15:70317639..78998335 [GRCh37]
Chr15:68104693..76785390 [NCBI36]
Chr15:15q23-25.1 |
pathogenic |
| GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1 |
copy number loss |
See cases [RCV000141573] |
Chr15:72685231..75727625 [GRCh38]
Chr15:72977572..76019966 [GRCh37]
Chr15:70764625..73807021 [NCBI36]
Chr15:15q24.1-24.2 |
pathogenic |
| GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 |
copy number gain |
See cases [RCV000143019] |
Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3 |
pathogenic |
| GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 |
copy number gain |
See cases [RCV000142915] |
Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3 |
pathogenic |
| GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1 |
copy number loss |
See cases [RCV000142748] |
Chr15:72671629..75242989 [GRCh38]
Chr15:72963970..75535330 [GRCh37]
Chr15:70751023..73322383 [NCBI36]
Chr15:15q24.1-24.2 |
pathogenic |
| NM_001142617.1(STRA6):c.217C>A (p.Arg73Ser) |
single nucleotide variant |
not specified [RCV000178337] |
Chr15:74197387 [GRCh38]
Chr15:74489728 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.1313A>G (p.Gln438Arg) |
single nucleotide variant |
Anophthalmia - microphthalmia [RCV000207353] |
Chr15:74182448 [GRCh38]
Chr15:74474789 [GRCh37]
Chr15:15q24.1 |
pathogenic |
| NM_022369.3(STRA6):c.1735C>G (p.Pro579Ala) |
single nucleotide variant |
Anophthalmia - microphthalmia [RCV000207384] |
Chr15:74180887 [GRCh38]
Chr15:74473228 [GRCh37]
Chr15:15q24.1 |
pathogenic |
| NM_022369.3(STRA6):c.1913G>C (p.Arg638Pro) |
single nucleotide variant |
Anophthalmia - microphthalmia [RCV000207387] |
Chr15:74180171 [GRCh38]
Chr15:74472512 [GRCh37]
Chr15:15q24.1 |
pathogenic |
| GRCh37/hg19 15q24.1-24.2(chr15:72998989-76069787)x3 |
copy number gain |
See cases [RCV000240066] |
Chr15:72998989..76069787 [GRCh37]
Chr15:15q24.1-24.2 |
pathogenic |
| GRCh37/hg19 15q24.1-24.2(chr15:72958539-75569605)x1 |
copy number loss |
See cases [RCV000240271] |
Chr15:72958539..75569605 [GRCh37]
Chr15:15q24.1-24.2 |
pathogenic |
| GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3 |
copy number gain |
See cases [RCV000240526] |
Chr15:74368270..78122737 [GRCh37]
Chr15:15q24.1-24.3 |
uncertain significance |
| NM_022369.3(STRA6):c.1167-10C>G |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000329298]|not specified [RCV000248979] |
Chr15:74183999 [GRCh38]
Chr15:74476340 [GRCh37]
Chr15:15q24.1 |
benign |
| NM_022369.3(STRA6):c.1581G>A (p.Met527Ile) |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000401354]|not specified [RCV000253939] |
Chr15:74181398 [GRCh38]
Chr15:74473739 [GRCh37]
Chr15:15q24.1 |
benign |
| GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 |
copy number gain |
See cases [RCV000240602] |
Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3 |
pathogenic |
| NM_022369.3(STRA6):c.406+5C>T |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000282310] |
Chr15:74196003 [GRCh38]
Chr15:74488344 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.*569T>C |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000301642] |
Chr15:74179511 [GRCh38]
Chr15:74471852 [GRCh37]
Chr15:15q24.1 |
likely benign |
| NM_022369.3(STRA6):c.1903G>A (p.Gly635Ser) |
single nucleotide variant |
Microphthalmia syndromic 9 [RCV000550092]|Syndromic Microphthalmia, Recessive [RCV000285397] |
Chr15:74180181 [GRCh38]
Chr15:74472522 [GRCh37]
Chr15:15q24.1 |
benign|uncertain significance |
| NM_022369.3(STRA6):c.*75C>A |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000325620] |
Chr15:74180005 [GRCh38]
Chr15:74472346 [GRCh37]
Chr15:15q24.1 |
likely benign |
| NM_022369.3(STRA6):c.1992T>C (p.Gly664=) |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000290516] |
Chr15:74180092 [GRCh38]
Chr15:74472433 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.*381C>T |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000353409] |
Chr15:74179699 [GRCh38]
Chr15:74472040 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.*189G>T |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000273801] |
Chr15:74179891 [GRCh38]
Chr15:74472232 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.*178C>T |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000333582] |
Chr15:74179902 [GRCh38]
Chr15:74472243 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.597+9T>G |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000336045] |
Chr15:74195293 [GRCh38]
Chr15:74487634 [GRCh37]
Chr15:15q24.1 |
likely benign |
| NM_022369.3(STRA6):c.1416G>A (p.Ser472=) |
single nucleotide variant |
Microphthalmia syndromic 9 [RCV000556770]|Syndromic Microphthalmia, Recessive [RCV000275808] |
Chr15:74182345 [GRCh38]
Chr15:74474686 [GRCh37]
Chr15:15q24.1 |
benign|likely benign |
| NM_022369.3(STRA6):c.*399G>A |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000298495] |
Chr15:74179681 [GRCh38]
Chr15:74472022 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.720+15C>T |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000278682] |
Chr15:74193785 [GRCh38]
Chr15:74486126 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.1771G>A (p.Ala591Thr) |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000298153]|not provided [RCV000515101] |
Chr15:74180851 [GRCh38]
Chr15:74473192 [GRCh37]
Chr15:15q24.1 |
likely benign|uncertain significance |
| NM_022369.3(STRA6):c.*324C>T |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000263049] |
Chr15:74179756 [GRCh38]
Chr15:74472097 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.993G>A (p.Thr331=) |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000266295] |
Chr15:74189212 [GRCh38]
Chr15:74481553 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.1840+12C>T |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000342683] |
Chr15:74180770 [GRCh38]
Chr15:74473111 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.865+7G>A |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000323575] |
Chr15:74191160 [GRCh38]
Chr15:74483501 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.1418+10delA |
deletion |
Syndromic Microphthalmia, Recessive [RCV000368037] |
Chr15:74182333 [GRCh38]
Chr15:74474674 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.-113A>G |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000272414] |
Chr15:74202810 [GRCh38]
Chr15:74495151 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.388G>A (p.Ala130Thr) |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000348992] |
Chr15:74196026 [GRCh38]
Chr15:74488367 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_001142617.1(STRA6):c.1840+4C>T |
single nucleotide variant |
not specified [RCV000344017] |
Chr15:74180778 [GRCh38]
Chr15:74473119 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.1349C>A (p.Ala450Asp) |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000307273] |
Chr15:74182412 [GRCh38]
Chr15:74474753 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.597+7G>A |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000374447] |
Chr15:74195295 [GRCh38]
Chr15:74487636 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.91G>A (p.Gly31Ser) |
single nucleotide variant |
Microphthalmia syndromic 9 [RCV000639565]|Syndromic Microphthalmia, Recessive [RCV000398879] |
Chr15:74202177 [GRCh38]
Chr15:74494518 [GRCh37]
Chr15:15q24.1 |
benign|uncertain significance |
| NM_022369.3(STRA6):c.386T>C (p.Leu129Pro) |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000399101] |
Chr15:74196028 [GRCh38]
Chr15:74488369 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.4T>C (p.Ser2Pro) |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000307673] |
Chr15:74202264 [GRCh38]
Chr15:74494605 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.331C>T (p.Leu111=) |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000352583] |
Chr15:74196083 [GRCh38]
Chr15:74488424 [GRCh37]
Chr15:15q24.1 |
benign |
| NM_022369.3(STRA6):c.1957G>A (p.Val653Ile) |
single nucleotide variant |
Microphthalmia syndromic 9 [RCV000687639]|Syndromic Microphthalmia, Recessive [RCV000376868] |
Chr15:74180127 [GRCh38]
Chr15:74472468 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.*426G>A |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000406860] |
Chr15:74179654 [GRCh38]
Chr15:74471995 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.366C>T (p.Asp122=) |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000314148] |
Chr15:74196048 [GRCh38]
Chr15:74488389 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_001142617.1(STRA6):c.357C>T (p.Pro119=) |
single nucleotide variant |
not specified [RCV000325843] |
Chr15:74196057 [GRCh38]
Chr15:74488398 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.1685-5C>G |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000336800] |
Chr15:74180942 [GRCh38]
Chr15:74473283 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.*489T>C |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000361025] |
Chr15:74179591 [GRCh38]
Chr15:74471932 [GRCh37]
Chr15:15q24.1 |
likely benign |
| NM_022369.3(STRA6):c.*127T>C |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000388260] |
Chr15:74179953 [GRCh38]
Chr15:74472294 [GRCh37]
Chr15:15q24.1 |
likely benign |
| NM_022369.3(STRA6):c.*222G>A |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000318472] |
Chr15:74179858 [GRCh38]
Chr15:74472199 [GRCh37]
Chr15:15q24.1 |
benign |
| NM_022369.3(STRA6):c.1970C>T (p.Thr657Met) |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000340862] |
Chr15:74180114 [GRCh38]
Chr15:74472455 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.-100G>A |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000364576] |
Chr15:74202797 [GRCh38]
Chr15:74495138 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.1260G>C (p.Trp420Cys) |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000364312] |
Chr15:74183896 [GRCh38]
Chr15:74476237 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.1836C>T (p.Asp612=) |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000390202] |
Chr15:74180786 [GRCh38]
Chr15:74473127 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_001142618.1(STRA6):c.113+3_113+4del |
deletion |
Microphthalmia syndromic 9 [RCV000515456] |
Chr15:74202151..74202152 [GRCh38]
Chr15:74494492..74494493 [GRCh37]
Chr15:15q24.1 |
pathogenic |
| NM_001142617.1(STRA6):c.1518C>A (p.Asn506Lys) |
single nucleotide variant |
not provided [RCV000723044] |
Chr15:74182163 [GRCh38]
Chr15:74474504 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_001142617.1(STRA6):c.1594C>G (p.Arg532Gly) |
single nucleotide variant |
not provided [RCV000723148] |
Chr15:74181385 [GRCh38]
Chr15:74473726 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.853A>T (p.Thr285Ser) |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000380564] |
Chr15:74191179 [GRCh38]
Chr15:74483520 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.946G>A (p.Val316Met) |
single nucleotide variant |
Microphthalmia syndromic 9 [RCV000527023] |
Chr15:74189259 [GRCh38]
Chr15:74481600 [GRCh37]
Chr15:15q24.1 |
benign |
| NM_022369.3(STRA6):c.*32G>T |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000384808] |
Chr15:74180048 [GRCh38]
Chr15:74472389 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.*209G>C |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000368439] |
Chr15:74179871 [GRCh38]
Chr15:74472212 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_001142617.1(STRA6):c.*628G>A |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000269792] |
Chr15:74179452 [GRCh38]
Chr15:74471793 [GRCh37]
Chr15:15q24.1 |
likely benign |
| NM_022369.3(STRA6):c.1566G>T (p.Val522=) |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000310910] |
Chr15:74181413 [GRCh38]
Chr15:74473754 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.*89T>C |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000289182] |
Chr15:74179991 [GRCh38]
Chr15:74472332 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.-139C>A |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000301595] |
Chr15:74202836 [GRCh38]
Chr15:74495177 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.1079G>T (p.Trp360Leu) |
single nucleotide variant |
Syndromic Microphthalmia, Recessive [RCV000377151] |
Chr15:74189126 [GRCh38]
Chr15:74481467 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_001142617.1(STRA6):c.1027G>T (p.Val343Leu) |
single nucleotide variant |
not specified [RCV000592599] |
Chr15:74189178 [GRCh38]
Chr15:74481519 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_001142617.1(STRA6):c.-15-3A>G |
single nucleotide variant |
not specified [RCV000592894] |
Chr15:74202285 [GRCh38]
Chr15:74494626 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_001142617.1(STRA6):c.630G>A (p.Leu210=) |
single nucleotide variant |
not specified [RCV000593668] |
Chr15:74193890 [GRCh38]
Chr15:74486231 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_022369.3(STRA6):c.653T>C (p.Phe218Ser) |
single nucleotide variant |
not specified [RCV000523907] |
Chr15:74193867 [GRCh38]
Chr15:74486208 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NM_001142617.1(STRA6):c.386_387delTCinsCA (p.Leu129Pro) |
indel |
not provided [RCV000722346] |
Chr15:74196027..74196028 [GRCh38]
Chr15:74488368..74488369 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 |
copy number gain |
not provided [RCV000415836] |
Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3 |
likely pathogenic |
| NM_001142617.1(STRA6):c.1605C>A (p.Leu535=) |
single nucleotide variant |
not specified [RCV000732345] |
Chr15:74181374 [GRCh38]
Chr15:74473715 [GRCh37]
Chr15:15q24.1 |
likely benign |
| NM_001142617.1(STRA6):c.842A>G (p.His281Arg) |
single nucleotide variant |
not provided [RCV000729239] |
Chr15:74191190 [GRCh38]
Chr15:74483531 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 |
copy number gain |
See cases [RCV000447123] |
Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3 |
pathogenic |
| GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 |
copy number gain |
See cases [RCV000447765] |
Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3 |
pathogenic |
| NM_022369.3(STRA6):c.582_583insTTGGCAGAGGGCAGAGTGT (p.Pro195Leufs) |
insertion |
not provided [RCV000484337] |
Chr15:74195316..74195317 [GRCh38]
Chr15:74487657..74487658 [GRCh37]
Chr15:15q24.1 |
pathogenic |
| GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 |
copy number gain |
See cases [RCV000510717] |
Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3 |
pathogenic |
| GRCh37/hg19 15q24.1-24.2(chr15:72958539-76063285)x1 |
copy number loss |
not provided [RCV000509167] |
Chr15:72958539..76063285 [GRCh37]
Chr15:15q24.1-24.2 |
not provided |
| GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1 |
copy number loss |
See cases [RCV000510609] |
Chr15:72943184..75567198 [GRCh37]
Chr15:15q24.1-24.2 |
pathogenic |
| GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) |
copy number gain |
See cases [RCV000512019] |
Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3 |
pathogenic |
| NM_001142617.1(STRA6):c.1935G>A (p.Leu645=) |
single nucleotide variant |
not specified [RCV000596412] |
Chr15:74180149 [GRCh38]
Chr15:74472490 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| NC_000015.9:g.31115047_102354857dup |
duplication |
not provided [RCV000677926] |
Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3 |
pathogenic |
| NM_022369.3(STRA6):c.367G>C (p.Ala123Pro) |
single nucleotide variant |
Microphthalmia syndromic 9 [RCV000533739] |
Chr15:74196047 [GRCh38]
Chr15:74488388 [GRCh37]
Chr15:15q24.1 |
benign |
| NM_022369.3(STRA6):c.2001C>T (p.Pro667=) |
single nucleotide variant |
Microphthalmia syndromic 9 [RCV000559820] |
Chr15:74180083 [GRCh38]
Chr15:74472424 [GRCh37]
Chr15:15q24.1 |
likely benign |
| NM_022369.3(STRA6):c.173C>T (p.Ser58Leu) |
single nucleotide variant |
Microphthalmia syndromic 9 [RCV000535196] |
Chr15:74197759 [GRCh38]
Chr15:74490100 [GRCh37]
Chr15:15q24.1 |
benign |
| NC_000015.9:g.72958539_75569605del2611067 |
deletion |
not provided [RCV000677994] |
Chr15:72958539..75569605 [GRCh37]
Chr15:15q24.1-24.2 |
pathogenic |
| GRCh37/hg19 15q24.1(chr15:74408834-74622533)x3 |
copy number gain |
not provided [RCV000683706] |
Chr15:74408834..74622533 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 |
copy number gain |
not provided [RCV000683703] |
Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3 |
pathogenic |
| GRCh37/hg19 15q24.1(chr15:74315568-74654641)x3 |
copy number gain |
not provided [RCV000683705] |
Chr15:74315568..74654641 [GRCh37]
Chr15:15q24.1 |
uncertain significance |
| GRCh37/hg19 15q24.1-24.2(chr15:72943184-76072324)x1 |
copy number loss |
not provided [RCV000683704] |
Chr15:72943184..76072324 [GRCh37]
Chr15:15q24.1-24.2 |
pathogenic |
| NM_001142617.1(STRA6):c.1676dup (p.Asp560Argfs) |
duplication |
Microphthalmia syndromic 9 [RCV000694327] |
Chr15:74181303 [GRCh38]
Chr15:74473644 [GRCh37]
Chr15:15q24.1 |
pathogenic |
| NC_000015.10:g.(?_72640623)_(75277317_?)dup |
duplication |
Schizophrenia [RCV000754166] |
Chr15:72640623..75277317 [GRCh38]
Chr15:15q24.1-24.2 |
likely pathogenic |
| GRCh37/hg19 15q24.1(chr15:74431715-74494621)x3 |
copy number gain |
not provided [RCV000738821] |
Chr15:74431715..74494621 [GRCh37]
Chr15:15q24.1 |
benign |
| NC_000015.10:g.(?_74071509)_(77878298_?)dup |
duplication |
Schizophrenia [RCV000754167] |
Chr15:74071509..77878298 [GRCh38]
Chr15:15q24.1-24.3 |
likely pathogenic |
| GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 |
copy number gain |
not provided [RCV000751156] |
Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3 |
pathogenic |
| GRCh37/hg19 15q24.1-24.2(chr15:72965159-75513545)x1 |
copy number loss |
not provided [RCV000751338] |
Chr15:72965159..75513545 [GRCh37]
Chr15:15q24.1-24.2 |
uncertain significance |
| GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 |
copy number gain |
not provided [RCV000751155] |
Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3 |
pathogenic |
Gene-Chemical Interaction Annotations
