Full data view for gene YPEL2

Information The variants shown are described using the NM_001005404.3 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57291915_57518137dup g.59214554_59440776dup RP17_SV1 - GDPD1_000001 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA arrayCGH, SEQ-NG - WES, WGS RP FamNL1 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 4-generation family, 37 affected (20F, 17M) F;M - Netherlands - - - - - 37 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57260521_57515862dup g.59183160_59438501dup RP17_SV5 - GDPD1_000005 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA SEQ-NG - WES, WGS RP FamNL2 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 5-generation family, 11 affected (6F, 5M) F;M - Netherlands - - - - - 11 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57324706_57324707ins[A;57440106_57510754;57295982_57510754;57295982_57324706] g.59247345_59247346ins[A;59362745_59433393;59218621_59433393;59218621_59247345] RP17_SV6 - GDPD1_000006 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020, Journal: de Bruijn 2024 - - Germline yes - - - - DNA SEQ-NG - WES, WGS RP FamUK13 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 5-generation family, 25 affected (15F, 10M) F;M - United Kingdom (Great Britain) - - - - - 25 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57456111_57468959delins[57275839_57559111inv;AGGCTGGTC] g.59378750_59391598delins[59198478_59481750inv;AGGCTGGTC] RP17_SV2 - GDPD1_000002 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA arraySNP, SEQ-NG - WES, WGS RP FamUK1 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 8-generation family, 51 affected (29F, 22M) F;M - United Kingdom (Great Britain) - - - - - 51 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57456111_57468959delins[57275839_57559111inv;AGGCTGGTC] g.59378750_59391598delins[59198478_59481750inv;AGGCTGGTC] RP17_SV2 - GDPD1_000002 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA arraySNP, SEQ-NG - WES, WGS RP FamUK2 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 4-generation family, 7 affected (6F, M) F;M - United Kingdom (Great Britain) - - - - - 7 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57456111_57468959delins[57275839_57559111inv;AGGCTGGTC] g.59378750_59391598delins[59198478_59481750inv;AGGCTGGTC] RP17_SV2 - GDPD1_000002 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA arraySNP, SEQ-NG - WES, WGS RP FamUK3 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 4-generation family, 4 affected (2F, 2M) F;M - United Kingdom (Great Britain) - - - - - 4 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57456111_57468959delins[57275839_57559111inv;AGGCTGGTC] g.59378750_59391598delins[59198478_59481750inv;AGGCTGGTC] RP17_SV2 - GDPD1_000002 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA arraySNP, SEQ-NG - WES, WGS RP FamUK4 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 4-generation family, 4 affected (3F, M) F;M - United Kingdom (Great Britain) - - - - - 4 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57456111_57468959delins[57275839_57559111inv;AGGCTGGTC] g.59378750_59391598delins[59198478_59481750inv;AGGCTGGTC] RP17_SV2 - GDPD1_000002 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA arraySNP, SEQ-NG - WES, WGS RP FamUK5 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 5-generation family, 8 affected (3F, 5M) F;M - United Kingdom (Great Britain) - - - - - 8 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57456111_57468959delins[57275839_57559111inv;AGGCTGGTC] g.59378750_59391598delins[59198478_59481750inv;AGGCTGGTC] RP17_SV2 - GDPD1_000002 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA arraySNP, SEQ-NG - WES, WGS RP FamUK6 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 7-generation family, 10 affected (6F, 4M) F;M - United Kingdom (Great Britain) - - - - - 10 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57456111_57468959delins[57275839_57559111inv;AGGCTGGTC] g.59378750_59391598delins[59198478_59481750inv;AGGCTGGTC] RP17_SV2 - GDPD1_000002 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA arraySNP, SEQ-NG - WES, WGS RP FamUK7 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 2-generation family, 2 affected sisters F - United Kingdom (Great Britain) - - - - - 2 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57456111_57468959delins[57275839_57559111inv;AGGCTGGTC] g.59378750_59391598delins[59198478_59481750inv;AGGCTGGTC] RP17_SV2 - GDPD1_000002 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA arraySNP, SEQ-NG - WES, WGS RP FamUK8 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 2-generation family, affected father and son M - United Kingdom (Great Britain) - - - - - 2 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57456111_57468959delins[57275839_57559111inv;AGGCTGGTC] g.59378750_59391598delins[59198478_59481750inv;AGGCTGGTC] RP17_SV2 - GDPD1_000002 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA arraySNP, SEQ-NG - WES, WGS RP FamUK9 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 4-generation family, 10 affected (9F, M) F;M - United Kingdom (Great Britain) - - - - - 10 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57456111_57468959delins[57275839_57559111inv;AGGCTGGTC] g.59378750_59391598delins[59198478_59481750inv;AGGCTGGTC] RP17_SV2 - GDPD1_000002 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA arraySNP, SEQ-NG - WES, WGS RP FamUK10 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 5-generation family, 5 affected (3F, 2M) F;M - United Kingdom (Great Britain) - - - - - 5 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57456111_57468959delins[57275839_57559111inv;AGGCTGGTC] g.59378750_59391598delins[59198478_59481750inv;AGGCTGGTC] RP17_SV2 - GDPD1_000002 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA arraySNP, SEQ-NG - WES, WGS RP FamUK11 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 4-generation family, 5 affected (5F) F - United Kingdom (Great Britain) - - - - - 5 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57456111_57468959delins[57275839_57559111inv;AGGCTGGTC] g.59378750_59391598delins[59198478_59481750inv;AGGCTGGTC] RP17_SV2 - GDPD1_000002 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA arraySNP, SEQ-NG - WES, WGS RP FamUK12 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 5-generation family, 7 affected (3F, 4M) F;M - United Kingdom (Great Britain) - - - - - 7 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57280008_57483883delins[57233035_57634900inv;TAAGCA] g.59202647_59406522delins[59155674_59557539inv;TAAGCA] RP17_SV4 - GDPD1_000004 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA SEQ-NG - WES, WGS RP FamCA1 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 5-generation family, 42 affected (22F, 19M, 1?) F;M - Canada - - - - - 42 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57516678_57516679ins[AAAAAAAACTTGAAAAAGAAGTTTG;57247620_57391675;57516683_57612715inv;GGTCCAGATTGTG;57499214_57516678] g.59439317_59439318ins[AAAAAAAACTTGAAAAAGAAGTTTG;59170259_59314314;59439322_59535354inv;GGTCCAGATTGTG;59421853_59439317] RP17_SV3 - GDPD1_000003 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA SEQ-NG - WES, WGS RP FamSA1 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 7-generation family, 60 affected (27F, 33M) F;M - South Africa - - - - - 60 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57516678_57516679ins[AAAAAAAACTTGAAAAAGAAGTTTG;57247620_57391675;57516683_57612715inv;GGTCCAGATTGTG;57499214_57516678] g.59439317_59439318ins[AAAAAAAACTTGAAAAAGAAGTTTG;59170259_59314314;59439322_59535354inv;GGTCCAGATTGTG;59421853_59439317] RP17_SV3 - GDPD1_000003 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA SEQ-NG - WES, WGS RP FamSA2 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 5-generation family, 25 affected (14F, 11M) F;M - South Africa - - - - - 25 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57516678_57516679ins[AAAAAAAACTTGAAAAAGAAGTTTG;57247620_57391675;57516683_57612715inv;GGTCCAGATTGTG;57499214_57516678] g.59439317_59439318ins[AAAAAAAACTTGAAAAAGAAGTTTG;59170259_59314314;59439322_59535354inv;GGTCCAGATTGTG;59421853_59439317] RP17_SV3 - GDPD1_000003 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA SEQ-NG - WES, WGS RP FamSA3 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 4-generation family, 6 affected (2F, 4M) F;M - South Africa - - - - - 6 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57516678_57516679ins[AAAAAAAACTTGAAAAAGAAGTTTG;57247620_57391675;57516683_57612715inv;GGTCCAGATTGTG;57499214_57516678] g.59439317_59439318ins[AAAAAAAACTTGAAAAAGAAGTTTG;59170259_59314314;59439322_59535354inv;GGTCCAGATTGTG;59421853_59439317] RP17_SV3 - GDPD1_000003 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA SEQ-NG - WES, WGS RP FamSA4 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 5-generation family, 9 affected (3F, 6M) F;M - South Africa - - - - - 9 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57326235_57413152delins[CT;57277347_57631659inv] g.59248874_59335791delins[CT;59199986_59554298inv] RP17_SV8 - GDPD1_000008 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA SEQ-NG - WES, WGS RP FamUK15 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 5 generation family, 12 affected (8F, 4M) F;M - United Kingdom (Great Britain) - - - - - 12 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57453631_57468930delins[57259525_57710821inv;TT] g.59376270_59391569delins[59182164_59633460inv;TT] RP17_SV7 - GDPD1_000007 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES, WGS RP FamUK14 PubMed: De Bruijn 2020, Journal: De Bruijn 2020 4-generation family, 2 affected sisters F - United Kingdom (Great Britain) - - - - - 2 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57456111_57468959delins[57275839_57559111inv;AGGCTGGTC] g.59378750_59391598delins[59198478_59481750inv;AGGCTGGTC] RP17_SV2 - GDPD1_000002 - PubMed: Panneman 2023, Journal: Panneman 2023 - - Germline yes - - - - DNA MIPsm - - RP 067984 PubMed: Panneman 2023 - F - United Kingdom (Great Britain) - - - - - 1 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57456111_57468959delins[57275839_57559111inv;AGGCTGGTC] g.59378750_59391598delins[59198478_59481750inv;AGGCTGGTC] RP17_SV2 - GDPD1_000002 - Journal: de Bruijn 2024 - - Germline - - - - - DNA MIPsm, SEQ-NG-I - - RP FamAU1 Journal: de Bruijn 2024 6-generation family, 6 affected (2F, 4M) F;M - Australia - - - - - 6 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57516678_57516679ins[AAAAAAAACTTGAAAAAGAAGTTTG;57247620_57391675;57516683_57612715inv;GGTCCAGATTGTG;57499214_57516678] g.59439317_59439318ins[AAAAAAAACTTGAAAAAGAAGTTTG;59170259_59314314;59439322_59535354inv;GGTCCAGATTGTG;59421853_59439317] RP17_SV3 - GDPD1_000003 - Journal: de Bruijn 2024 - - Germline - - - - - DNA MIPsm, SEQ-NG-I - - RP FamAU2 Journal: de Bruijn 2024 4-generation family, 7 affected (2F, 5M) F;M - Australia - - - - - 7 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57516678_57516679ins[AAAAAAAACTTGAAAAAGAAGTTTG;57247620_57391675;57516683_57612715inv;GGTCCAGATTGTG;57499214_57516678] g.59439317_59439318ins[AAAAAAAACTTGAAAAAGAAGTTTG;59170259_59314314;59439322_59535354inv;GGTCCAGATTGTG;59421853_59439317] RP17_SV3 - GDPD1_000003 - Journal: de Bruijn 2024 - - Germline - - - - - DNA MIPsm, SEQ-NG-I - - RP FamAU3 Journal: de Bruijn 2024 5-generation family, 13 affected (11F, 2M) F;M - Australia - - - - - 13 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - likely pathogenic (dominant) g.57626499_57626500ins[57413643_57623126inv;57264682_57626499] g.59549138_59549139ins[59336282_59545765inv;59187321_59549138] RP17_SV9 - GDPD1_000010 - Journal: de Bruijn 2024 - - Germline yes - - - - DNA PCRq, SEQ-NG-I - - RP FamDE1 Journal: de Bruijn 2024 3-generation family, 4 affected (4F) F - Germany - - - - - 4 Suzanne de Bruijn
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.57365657_57439922delins[57297473_57555520inv;A] g.59288296_59362561delins[59220112_59478159inv;A] RP17_SV10 - GDPD1_000011 - Journal: de Bruijn 2024 - - Germline yes - - - - DNA MIPsm, SEQ-NG-I - - RP FamUS1 Journal: de Bruijn 2024 6-generation family, 16 affected (9M, 7F) F;M - United States - - - - - 16 Suzanne de Bruijn
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