All variants in the SMG8 gene

Information The variants shown are described using the NM_018149.6 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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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.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
-?/. - c.255T>C r.(?) p.(Pro85=) - likely benign g.57287667T>C - SMG8(NM_018149.7):c.255T>C (p.P85=) - PRR11_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.441dup r.(?) p.(Val148Serfs*11) - likely pathogenic (recessive) g.57287853dup g.59210492dup 441dupA - SMG8_000002 - PubMed: Alzahrani 2020, Journal: Alzahrani 2020 - - Germline yes - - - - Johan den Dunnen
+?/. - c.441dup r.(?) p.(Val148Serfs*11) - likely pathogenic (recessive) g.57287853dup g.59210492dup 441dupA - SMG8_000002 - PubMed: Alzahrani 2020, Journal: Alzahrani 2020 - - Germline yes - - - - Johan den Dunnen
+?/. - c.623A>G r.(?) p.(His208Arg) - likely pathogenic (recessive) g.57288035A>G g.59210674A>G - - SMG8_000003 - PubMed: Alzahrani 2020, Journal: Alzahrani 2020 - - Germline yes - - - - Johan den Dunnen
+?/. - c.623A>G r.(?) p.(His208Arg) - likely pathogenic (recessive) g.57288035A>G g.59210674A>G - - SMG8_000003 - PubMed: Alzahrani 2020, Journal: Alzahrani 2020 - - Germline yes - - - - Johan den Dunnen
+?/. - c.623A>G r.(?) p.(His208Arg) - likely pathogenic (recessive) g.57288035A>G g.59210674A>G - - SMG8_000003 - PubMed: Alzahrani 2020, Journal: Alzahrani 2020 - - Germline yes - - - - Johan den Dunnen
?/. - c.631C>T r.(?) p.(Leu211Phe) - VUS g.57288043C>T - SMG8(NM_018149.7):c.631C>T (p.(Leu211Phe)) - PRR11_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.717G>C r.(?) p.(Pro239=) - likely benign g.57288129G>C - SMG8(NM_018149.7):c.717G>C (p.P239=) - PRR11_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.935T>C r.(?) p.(Phe312Ser) - VUS g.57288347T>C - SMG8(NM_018149.7):c.935T>C (p.(Phe312Ser)) - PRR11_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.1121_1122insG r.(?) p.(Gly375TrpfsTer3) - VUS g.57288533_57288534insG g.59211172_59211173insG - - SMG8_000007 reported as candidate disease gene PubMed: Al-Kasbi 2022 - - Germline - - - - - Johan den Dunnen
+?/. - c.1125dup r.(?) p.(Pro376Alafs*2) - likely pathogenic (recessive) g.57288537dup g.59211176dup 1125dupG - SMG8_000004 - PubMed: Alzahrani 2020, Journal: Alzahrani 2020 - - Germline yes - - - - Johan den Dunnen
+?/. - c.1125dup r.(?) p.(Pro376Alafs*2) - likely pathogenic (recessive) g.57288537dup g.59211176dup 1125dupG - SMG8_000004 - PubMed: Alzahrani 2020, Journal: Alzahrani 2020 - - Germline yes - - - - Johan den Dunnen
-?/. - c.1129A>C r.(?) p.(=) - likely benign g.57288541A>C - SMG8(NM_018149.7):c.1129A>C (p.R377=) - PRR11_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1375G>A r.(?) p.(Ala459Thr) - VUS g.57288787G>A - SMG8(NM_018149.7):c.1375G>A (p.A459T) - PRR11_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1788G>T r.(?) p.(Pro596=) - likely benign g.57289730G>T - SMG8(NM_018149.7):c.1788G>T (p.P596=) - SMG8_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2318C>T r.(?) p.(Pro773Leu) - likely benign g.57290502C>T - SMG8(NM_018149.7):c.2318C>T (p.(Pro773Leu)) - SMG8_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.2515C>T r.(?) p.(Arg839*) - likely pathogenic (recessive) g.57290699C>T g.59213338C>T - - SMG8_000005 - PubMed: Alzahrani 2020, Journal: Alzahrani 2020 - - Germline yes - - - - Johan den Dunnen
+?/. - c.2515C>T r.(?) p.(Arg839*) - likely pathogenic (recessive) g.57290699C>T g.59213338C>T - - SMG8_000005 - PubMed: Alzahrani 2020, Journal: Alzahrani 2020 - - Germline yes - - - - Johan den Dunnen
?/. - c.2668T>C r.(?) p.(Tyr890His) - VUS g.57290852T>C - - - SMG8_000008 - - - rs137980220 Unknown - - - - - MobiDetails
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