237823 | . | . | . | deletion | . | . | . | Familial cancer of breast | Pathogenic (Last reviewed: 10 December 2015) |
230523 | 215593433–215593434 | TG | - | frameshift deletion | V767fs | rs750413473 | 0.00006 | Familial cancer of breast|not specified|Hereditary cancer-predisposing syndrome | Conflicting interpretations of pathogenicity (Last reviewed: 18 August 2016) |
185366 | 215593466 | G | A | nonsense | W756 * | rs786202118 | . | Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 20 June 2014) |
187542 | 215593585–215593586 | CA | - | frameshift deletion | I717fs | rs786203811 | . | Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 10 December 2014) |
422826 | 215593671 | A | AA | frameshift duplication | D689fs | . | . | not provided | Likely pathogenic (Last reviewed: 29 November 2016) |
265365 | 215593734 | A | C | splice acceptor | . | rs876658260 | . | not provided | Likely pathogenic (Last reviewed: 28 June 2016) |
229902 | 215593734 | A | T | splice acceptor | . | rs876658260 | . | Hereditary cancer-predisposing syndrome | Likely pathogenic (Last reviewed: 17 November 2015) |
182051 | 215595140 | C | T | nonsense | Q666 * | rs730881422 | . | Familial cancer of breast|not provided|Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic (Last reviewed: 13 January 2017) |
187445 | 215595166 | C | - | frameshift deletion | P657fs | rs786203739 | . | Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 3 March 2016) |
430952 | 215595182–215595201 | | | frameshift duplication | Q652fs | . | . | Familial cancer of breast | Pathogenic (Last reviewed: 13 April 2017) |
265510 | 215595182–215595201 | | | frameshift deletion | C645fs | rs886039589 | . | not provided | Likely pathogenic (Last reviewed: 3 December 2015) |
127725 | 215595182–215595201 | | | frameshift duplication | Q652fs | rs587780024 | . | Familial cancer of breast|not provided|Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic (Last reviewed: 13 April 2017) |
142499 | 215595203–215595204 | AT | - | frameshift deletion | C645fs | rs587782504 | . | Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic (Last reviewed: 20 November 2015) |
141702 | 215595215 | C | T | nonsense | R641 * | rs587781948 | 0.00001 | Familial cancer of breast|not provided|Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 4 October 2016) |
232108 | 215595234 | A | - | splice acceptor | . | rs876659560 | . | Hereditary cancer-predisposing syndrome | Likely pathogenic (Last reviewed: 29 May 2015) |
219763 | 215595234 | A | T | splice acceptor | . | rs864622239 | . | Familial cancer of breast | Likely pathogenic (Last reviewed: 8 August 2015) |
233167 | 215609790 | G | T | splice donor | . | rs876660237 | . | Hereditary cancer-predisposing syndrome | Likely pathogenic (Last reviewed: 6 August 2015) |
232127 | 215609822 | T | - | frameshift deletion | L625fs | rs876659572 | . | not provided|Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 26 July 2016) |
143017 | 215609876–215609877 | AT | - | frameshift deletion | H606fs | rs587782897 | . | not provided|Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 8 June 2016) |
245801 | 215609884 | G | A | splice acceptor | . | rs879253952 | . | not provided | Pathogenic (Last reviewed: 9 June 2015) |
246449 | 215609885–215609893 | | - | splice acceptor | . | rs879254264 | . | not provided | Likely pathogenic (Last reviewed: 7 March 2016) |
232643 | 215610445 | G | A | splice donor | . | rs876659894 | . | Hereditary cancer-predisposing syndrome | Likely pathogenic (Last reviewed: 30 June 2015) |
127720 | 215610566 | C | T | nonsense | Q564* | rs587780021 | 0.00005 | Familial cancer of breast|not provided|Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 3 January 2017) |
406791 | 215617170 | G | C | splice donor | . | rs1060501310 | . | Familial cancer of breast | Likely pathogenic (Last reviewed: 2 August 2016) |
141384 | 215617196 | C | G | nonsense | S551 * | rs587781707 | . | Familial cancer of breast|not provided|Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 29 December 2016) |
230172 | 215617209 | G | T | nonsense | E547 * | rs876658429 | . | Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 28 January 2015) |
406768 | 215617214–215617248 | | | frameshift indel | T534fs | rs1064792931 | . | Familial cancer of breast | Pathogenic (Last reviewed: 22 September 2016) |
379750 | 215617226 | C | A | nonsense | S541 * | rs777937955 | . | not provided | Pathogenic (Last reviewed: 14 May 2015) |
406776 | 215632275 | - | A | frameshift duplication | D500fs | . | . | Familial cancer of breast | Pathogenic (Last reviewed: 13 August 2016) |
421820 | 215633955 | - | G | splice donor duplication | . | . | . | not provided | Likely pathogenic (Last reviewed: 4 August 2016) |
233414 | 215634002 | - | A | frameshift duplication | N450fs | rs876660390 | . | Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 17 August 2015) |
406748 | 215634026 | C | - | frameshift deletion | P442fs | rs1060501287 | . | Familial cancer of breast|not provided | Pathogenic/Likely pathogenic (Last reviewed: 20 September 2016) |
243116 | 215645314 | A | - | frameshift deletion | E429fs | rs879253879 | . | not provided | Likely pathogenic (Last reviewed: 11 December 2015) |
234190 | 215645328 | A | - | frameshift deletion | R424fs | rs876660911 | . | Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 2 October 2015) |
187182 | 215645331–215645334 | GTG | ATG | frameshift indel | V422fs | rs786203533 | . | Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 10 November 2014) |
229677 | 215645382 | C | T | nonsense | R406 * | rs377153250 | 0.00003 | Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 11 November 2014) |
142734 | 215645386 | C | G | nonsense | Y404 * | rs587782681 | . | Familial cancer of breast|not provided|Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 13 October 2016) |
379884 | 215645393 | C | G | nonsense | S402 * | rs796666047 | . | not provided | Pathogenic (Last reviewed: 1 June 2015) |
187646 | 215645400 | A | - | frameshift deletion | S400fs | rs786203891 | . | Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 17 December 2014) |
237814 | 215645426 | C | G | nonsense | S391 * | rs878853995 | . | Familial cancer of breast | Pathogenic (Last reviewed: 24 February 2016) |
185916 | 215645537 | C | G | nonsense | S354 * | rs786202559 | . | Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 24 March 2016) |
232902 | 215645575 | G | - | frameshift deletion | S342fs | rs876660061 | . | not provided|Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 21 July 2015) |
419156 | 215645584 | C | - | frameshift deletion | S339fs | rs1064793682 | . | not provided | Pathogenic (Last reviewed: 1 June 2015) |
141412 | 215645651 | T | G | nonsense | L316 * | rs587781728 | . | Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 7 April 2014) |
185015 | 215645737–215645738 | AG | - | frameshift deletion | E287fs | rs786201868 | . | Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 29 May 2014) |
232418 | 215645759–215645760 | TT | - | frameshift deletion | L280fs | rs876659752 | . | Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 15 June 2015) |
406757 | 215645853 | - | A | frameshift duplication | I249fs | . | . | Familial cancer of breast | Pathogenic (Last reviewed: 24 October 2016) |
141005 | 215645865 | C | T | nonsense | Q245 * | rs587781430 | 0.00001 | not provided|Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 8 March 2017) |
230107 | 215645889 | C | T | nonsense | Q237 * | rs587780035 | . | not provided|Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 11 July 2016) |
141342 | 215645938–215645941 | TTTA | - | frameshift deletion | R219fs | rs587781671 | . | Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 23 February 2014) |
219726 | 215645970–215645971 | AA | - | frameshift deletion | K209fs | rs864622223 | . | Familial cancer of breast|not provided | Pathogenic/Likely pathogenic (Last reviewed: 4 December 2015) |
127742 | 215645975 | - | A | frameshift deletion | K209fs | rs587780033 | . | Familial cancer of breast|Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 18 November 2016) |
182042 | 215645991 | G | T | nonsense | G203 * | rs730881415 | . | not provided | Pathogenic (Last reviewed: 25 September 2014) |
233965 | 215646006 | G | - | frameshift deletion | A198fs | rs876660761 | . | Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 15 September 2015) |
186576 | 215646058–215646059 | AT | - | frameshift deletion | Y180fs | rs779427628 | 0.00001 | Familial cancer of breast|not provided|Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 13 December 2016) |
406761 | 215646072 | C | T | nonsense | Q176 * | rs776851287 | . | Familial cancer of breast | Pathogenic (Last reviewed: 26 May 2016) |
185846 | 215646102 | C | T | nonsense | Q166 * | rs786202500 | . | not provided|Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 4 April 2016) |
230344 | 215646138–215646141 | - | AAAG | frameshift duplication | V154fs | rs772486760 | . | Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 2 February 2015) |
182036 | 215646150 | C | T | nonsense | R150 * | rs730881411 | 0.00001 | Familial cancer of breast|not provided|Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 29 July 2016) |
185139 | 215657051 | C | T | nonsense | R112 * | rs758972589 | 0.00001 | Familial cancer of breast|not provided|Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 27 May 2016) |
185079 | 215657087 | C | T | nonsense | Q100 * | rs786201912 | . | Familial cancer of breast|Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 13 December 2016) |
230447 | 215657108 | C | T | nonsense | Q93 * | rs876658571 | . | Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 23 February 2015) |
231019 | 215657170 | G | A | splice acceptor | . | rs876658905 | . | Hereditary cancer-predisposing syndrome | Likely pathogenic (Last reviewed: 26 March 2015) |
371931 | 215661823–215661824 | AG | - | frameshift deletion | E59fs | rs1057517589 | . | Familial cancer of breast | Pathogenic/Likely pathogenic (Last reviewed: 16 November 2016) |
246176 | 215661842 | G | T | splice acceptor | . | rs879254139 | . | not provided | Likely pathogenic (Last reviewed: 3 December 2015) |
246476 | 215674192 | G | A | nonsense | W34 * | rs879254280 | . | not provided | Likely pathogenic (Last reviewed: 8 March 2016) |
231232 | 215674224–215674225 | | | frameshift indel | A25fs | rs876659040 | . | Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 25 March 2015) |
233594 | 215674239 | G | T | nonsense | E19 * | rs752514155 | 0.00002 | Familial cancer of breast|not provided|Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 28 August 2016) |
232926 | 215674271–215674290 | | | frameshift deletion | P2fs | rs876660077 | . | Hereditary cancer-predisposing syndrome | Pathogenic (Last reviewed: 10 July 2015) |
127739 | 215674291 | G | A | missense | M1I | rs587780031 | . | not provided | Pathogenic (Last reviewed: 5 November 2013) |
154206 | 190300875–242783384 | . | . | copy number gain (2q32.2-37.3) | . | nssv3395386 | . | Hypospadias | Pathogenic (Last reviewed: 18 March 2014) |
152738 | 193803552–216569775 | . | . | copy number loss (2q32.3-35) | . | nssv1608180 | . | Developmental delay AND/OR other significant developmental or morphological phenotypes | Pathogenic (Last reviewed: 14 January 2013) |
150620 | 181378520–225167565 | . | . | copy number gain (2q31.3-36.1) | . | nssv1604018 | . | Developmental delay AND/OR other significant developmental or morphological phenotypes | Pathogenic (Last reviewed: 25 July 2011) |
146683 | 211444400–243059659 | . | . | copy number gain (2q34-37.3) | . | nssv706486 | . | Coarctation of aorta | Pathogenic (Last reviewed: 25 February 2011) |
59164 | 213479146–227985946 | . | . | copy number gain (2q34-36) | . | nssv578841 | . | Developmental delay AND/OR other significant developmental or morphological phenotypes | Pathogenic (Last reviewed: 12 August 2011) |
59160 | 193987039–242014395 | . | . | copy number gain (2q32.3-37.3) | . | nssv578835 | . | Developmental delay AND/OR other significant developmental or morphological phenotypes | Pathogenic (Last reviewed: 12 August 2011) |
59159 | 191175462–242834921 | . | . | copy number gain (2q32.2-37.3) | . | nssv578834 | . | Developmental delay AND/OR other significant developmental or morphological phenotypes | Pathogenic (Last reviewed: 12 August 2011) |
59158 | 189682921–243007359 | . | . | copy number gain (2q32.2-37.3) | . | nssv578833 | . | Developmental delay AND/OR other significant developmental or morphological phenotypes | Pathogenic (Last reviewed: 12 August 2011) |
57419 | 195763507–237382556 | . | . | copy number gain (2q32.3-37.3) | . | nssv578837 | . | Developmental delay AND/OR other significant developmental or morphological phenotypes | Pathogenic (Last reviewed: 12 August 2011) |