Genetic Test Findings Overview
The content provides a detailed overview of genetic test findings for various cases, featuring specific genetic mutations and conditions. Each entry includes genetic variants, protein changes, and relevant details. The accompanying images offer visual representations of the genetic data and associated conditions.
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Presentation Transcript
223_F17-001 V1|+ declined genetic tests +|+ +|V2 V1|V2 CEP290 V1: c.250+2T>C, p.[=,Glu84Glyfs*10,Ser42Phefs*2] V2: c.7027del, p.(Val2343Phefs*4) V1|+
224_F17-002 600 +|+ deceased 50 y. no contact 224 V1|+ 602 V1|+ 601 +|+ PRPF31 V1:c.1040del, p.(Leu347Argfs*16)
225_F17-003 436 V1|+ 437 +|V2V3 430 225 V1|V2V3 V1|V2V3 ABCA4 V1: c.634C>T, p.(Arg212Cys) V2: c.1622T>C, p.(Leu541Pro) V3: c.3113C>T, p.(Ala1038Val)
226_F17-004 839 838 840 226
227_F17-005 no symptoms incomplete penetrance 438 V1|+ 439 +|+ 247 V1|+ 441 V1|+ 440 +|+ TOPORS V1: c.2439_2440del, p.(Arg814*)
228_F17-006 228
229_F17-007 442 +|V2 443 V1|+ 444 V1|V2 229 V1|V2 445 V1|V2 ABCA4 V1: c.4537dup, p.(Gln1513Profs*42) V2: c.5461-10T>C, p.[Thr1821Valfs*13, Thr1821Aspfs*6]
230_F17-008 230 V1V2|V3 515 +|V3 516 +|V3 ABCA4 V1: c.634C>T, p.(Arg212Cys) V2: c.1622T>C, p.(Leu541Pro) V3: c.5603A>T, p.(Asn1868Ile)
231_F17-009 AMD 457 V1|+ 231 V1|V2 ABCA4 V1: c.4234C>T, p.(Gln1412*) V2: c.5882G>A, p.(Gly1961Glu)
235_F17-010 458 +|V3 459 V1V2|+ 461 235 460 V1V2|+ V1V2|V3 V1V2|V3 ABCA4 V1: c.1622T>C, p.(Leu541Pro) V2: c.3113C>T, p.(Ala1038Val) V3: c.5714+5G>A, p.[=, Glu1863Leufs*33]
236_F17-011 236
237_F17-012 237 V1|V2 470 +|V2 CRB1 V1: c.2171A>G, p.(Tyr724Cys) V2: c.2843G>A, p.(Cys948Tyr)
239_F17-014 447 +|V2 446 V1|+ 448 +|V2 239 V1|V2 ABCA4 V1: c.194G>A, p.(Gly65Glu) V2: c.2588G>C, p.(Gly863Ala)
240_F17-015 517 V1V2|+ 519 V1V2|+ 240 518 V1V2|+ V1V2|V1V2 ABCA4 V1: c.1622T>C, p.(Leu541Pro) V2: c.3113C>T, p.(Ala1038Val)
241_F17-016 506 + 509 V1|+ 511 V1 241 V1 508 + 510 + 512 V1 513 V1 514 V1 507 V1 RPGR V1: c.385_386del, p.(Thr129Phefs*5)
242_F17-017 874 +|+ 875 V1|+ 242 V1|V1 876 +|+ C21ORF2 V1: c.33_34ins16, p.(Ala12Serfs*60)
243_F17-018 243
244_F17-019 743 +|+ 742 +|+ 244 V1|+ GUCY2D V1: c.2798T>C, p.(Val933Ala)
245_F17-020 245
247_F17-022 452 +|V2 453 V1|+ 449 +|+ 450 +|V2 451 V1|+ 247 V1|V2 ABCA4 V1: c.194G>A, p.(Gly65Glu) V2: c.5882G>A, p.(Gly1961Glu)
248_F17-023 248 V1|V2 contact lost MAK V1: c.1625_1628delATCA, p.(Asn542Serfs*22) V2: c.359-2A>G, p.(?)
251_F17-024 251 V1|+ V2|+ CNGB3 V1: c.819_826del, p.(Arg274Valfs*13) PROM1 V2: c.1697dup, p.(Asn566Lysfs*2)
252_F17-025 252.1 V1|+ 252.2 +|V1V2 252 V1|V1V2 ABCA4 V1: c.1622T>C, p.(Leu541Pro) V2: c.3113C>T, p.(Ala1038Val)
253_F17-026 645 V1V2|+ 646 +|V3 253 V1V2|V3 V1: c.1622T>C, p.(Leu541Pro) V2: c.3113C>T, p.(Ala1038Val) V3: c.2041C>T, p.(Arg681*)
254_F17-027 641 +|+ 642 V1|+ 254 V1|V1 CNGA3 V1: c.847C>T, p.(Arg283Trp)
255_F17-028 763 V1|+ 764 +|V2 255 V1|V2 765 +|V2 766 767 V1|+ ABCA4 V1: c.5684_5685del, p.(Leu1895Argfs*16) V2: c.5882G>A p.(Gly1961Glu)
256_F17-029 769 V1|+ 562 V1|+ 761 +|+ 561 V1|+ 768 +|+ 798 +|+ 799 +|+ 770 +|+ 489 V1|+ 762 +|+ 256 V1|+ GUCY2D V1: c.2512C>T, p.(Arg838Cys)
257_F17-030 257
258_F17-031 258
260 _F17-032 no contact 636 V1|+ 260 V1|V2 259 V1|V2 PDE6H V1: c.-42+1G>A, p.(?) V2: c.35C>G, p.(Ser12*)
261_F17-033 261 V1|+ MERTK V1: c.345C>G, p.(Cys115Trp)
262_F17-034 262
263_F17-035 no contact no contact 263 V1|+ PRPF8 V1: c.5792C>T, p.(Thr1931Met)
264_F17-036 535 +|V3 536 V1V2|+ 264 537 +|+ V1V2|V3 ABCA4 V1: c.1622T>C, p.(Leu541Pro) V2: c.3113C>T, p.(Ala1038Val) V3: c.634C>T, p.(Arg212Cys)
265_F17-037 265 1971 V1|+ CRB1 V1: c.776G>T, p.(Trp259Leu)
266_F17-038 probable STGD; onset 35 y. whole gene not tested 299 +|V2 628 +|V2 629 V1|+ ? 630 V1|V2 631 +|+ 266 V1|V2 ABCA4 V1: c.2894A>G, p.(Asn965Ser) V2: c.6319_6325del, p.(Arg2107Cysfs*6)
267_F17-039 554 V1|+ 553 +|V2 267 V1|V2 CRB1 V1: c.2042G>A, p.(Cys681Tyr) V2: c.2843G>A, p.(Cys948Tyr)
268_F17-040 high myopia high myopia 268
269_F17-041 843 V1|+ 844 V1|+ 269 V1|V1 845 V1|+ C21orf2 V1: c.218G>C; p.(Arg73Pro)
270_F17-042 272 +|+ 273 V1|+ 270 V1|+ 1998 271 V1|+ AIPL1 V1: c.737A>C, p.(Tyr246Ser)
274_F17-043 475 V1|+ 474 +|V2 274 V1|V2 275 V1|V2 CNGA3 V1: c.829C>T, p.(Arg277Cys) V2: c.848G>A, p.(Arg283Gln)
276_F17-044 669 V1|+ 668 V1|+ 670 V1|+ 276 V1|V1 CNGB3 V1: c.1148del, p.(Thr383Ilefs*13)
277_F17-045 544 V1|+ 545 +|V2 277 V1|V2 546 +|+ ABCA4 V1: c.1211C>A, p.(Ser404*) V2: c.5882G>A, p.(Gly1961Glu)
278_F17-046 576 V1|+ 575 +|V2 278 V1|V2 577 +|V2 CEP290 V1: c.223A>G, p.(Lys75Glu) V2: c.1984C>T, p.(Gln662*)
279_F17-047 541 V1|+ 542 V1|+ 279 V1|V1 CRB1 V1: c.3409T>C, p.(Cys1137Arg)
281_F17-049 281
282_F17-050 633 V1|+ 632 + 634 V1|+ 282 V1 CACNA1F V1: c.847T>C, p.(Cys283Arg)
283_F17-051 820 823 3 824 822 821 283 V1|+ IMPDH1 V1: c.968A>G, p.(Lys323Arg)
284_F17-052 747 V1V2|+ 746 +|V3 284 V1V2|V3 ABCA4 V1: c.454C>T, p.(Arg152*) V2: c.6148G>C, p.(Val2050Leu) V3: c.2588G>C, p.[Gly863Ala,Gly863del]
285_F17-053 2 285
