All variants in the GDPD1 gene

Information The variants shown are described using the NM_182569.3 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. - c.? r.? p.? - pathogenic (dominant) g.57291915_57518137dup g.59214554_59440776dup RP17_SV1 - GDPD1_000001 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - Suzanne de Bruijn
+/. - c.? r.? p.? - pathogenic (dominant) g.57260521_57515862dup g.59183160_59438501dup RP17_SV5 - GDPD1_000005 - PubMed: De Bruijn 2020, Journal: De Bruijn 2020 - - Germline yes - - - - Suzanne de Bruijn
+/. - c.? r.? p.? - 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 - - - - Suzanne de Bruijn
+/. - c.? r.? p.? - 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 - - - - Suzanne de Bruijn
+/. - c.? r.? p.? - 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 - - - - Suzanne de Bruijn
+/. - c.? r.? p.? - 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 - - - - Suzanne de Bruijn
+/. - c.? r.? p.? - 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 - - - - Suzanne de Bruijn
+/. - c.? r.? p.? - 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 - - - - Suzanne de Bruijn
+/. - c.? r.? p.? - 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 - - - - Suzanne de Bruijn
+/. - c.? r.? p.? - 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 - - - - Suzanne de Bruijn
+/. - c.? r.? p.? - 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 - - - - Suzanne de Bruijn
+/. - c.? r.? p.? - 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 - - - - Suzanne de Bruijn
+/. - c.? r.? p.? - 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 - - - - Suzanne de Bruijn
+/. - c.? r.? p.? - 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 - - - - Suzanne de Bruijn
+/. - c.? r.? p.? - 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 - - - - Suzanne de Bruijn
+/. - c.? r.? p.? - 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 - - - - Suzanne de Bruijn
+/. - c.? r.? p.? - 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 - - - - Suzanne de Bruijn
+/. - c.? r.? p.? - 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 - - - - Suzanne de Bruijn
+/. - c.? r.? p.? - 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 - - - - Suzanne de Bruijn
+/. - c.? r.? p.? - 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 - - - - Suzanne de Bruijn
+/. - c.? r.? p.? - 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 - - - - Suzanne de Bruijn
+/. - c.? r.? p.? - 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 - - - - Suzanne de Bruijn
+/. - c.? r.? p.? - 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 - - - - Suzanne de Bruijn
+/. - c.? r.? p.? - pathogenic (dominant) g.57456111_57468959delins[57275839_57559111inv;AGGCTGGTC] g.59378750_59391598delins[59198478_59481750inv;AGGCTGGTC] RP17_SV2 - GDPD1_000002 - Journal: de Bruijn 2024 - - Germline - - - - - Suzanne de Bruijn
+/. - c.? r.? p.? - 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 - - - - - Suzanne de Bruijn
+/. - c.? r.? p.? - 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 - - - - - Suzanne de Bruijn
+/. - c.? r.? p.? - 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 - - - - Suzanne de Bruijn
+/. - c.? r.? p.? - pathogenic (dominant) g.57365657_57439922delins[57297473_57555520inv;A] g.59288296_59362561delins[59220112_59478159inv;A] RP17_SV10 - GDPD1_000011 - Journal: de Bruijn 2024 - - Germline yes - - - - Suzanne de Bruijn
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