Full data view for gene ACBD6

Information The variants shown are described using the NM_032360.3 transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
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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     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 1 c.82dup r.(?) p.(Val28GlyfsTer6) Both (homozygous) ACMG likely pathogenic (recessive) g.180471321dup g.180502186dup 82dupG - ACBD6_000025 ACMG PVS1, PM2, PP1 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam2Pat1 PubMed: Kaiyrzhanov 2023 family, 1 affected, unaffected heterozygous parents (1st cousins) F yes Lebanon - - - - - 1 Johan den Dunnen
+?/. 1 c.82dup r.(?) p.(Val28GlyfsTer6) Both (homozygous) ACMG likely pathogenic (recessive) g.180471321dup g.180502186dup 82dupG - ACBD6_000025 ACMG PVS1, PM2, PP1 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam21Pat1 PubMed: Kaiyrzhanov 2023 family, 1 affected, unaffected heterozygous parents F no - Europe - - - - 1 Johan den Dunnen
+/. 1 c.160C>T r.(?) p.(Gln54Ter) Both (homozygous) ACMG pathogenic (recessive) g.180471242G>A g.180502107G>A - - ACBD6_000024 ACMG PVS1, PM2, PP1 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam20Pat1 PubMed: Kaiyrzhanov 2023 family, 2 affected, unaffected heterozygous parents (1st cousins) F yes Iraq - - - - - 2 Johan den Dunnen
+/. 1 c.160C>T r.(?) p.(Gln54Ter) Both (homozygous) ACMG pathogenic (recessive) g.180471242G>A g.180502107G>A - - ACBD6_000024 ACMG PVS1, PM2, PP1 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam20Pat2 PubMed: Kaiyrzhanov 2023 relative F yes Iraq - - - - - 1 Johan den Dunnen
+/. 1 c.160C>T r.(?) p.(Gln54Ter) Both (homozygous) ACMG pathogenic (recessive) g.180471242G>A g.180502107G>A - - ACBD6_000024 ACMG PVS1, PM2, PP1 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam25Pat1 PubMed: Kaiyrzhanov 2023 family, 1 affected, unaffected heterozygous parents (1st cousins) F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 1 c.187G>T r.(?) p.(Glu63Ter) Both (homozygous) ACMG pathogenic (recessive) g.180471215C>A g.180502080C>A - - ACBD6_000023 ACMG PVS1, PS3, PM2, PP1 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam5Pat1 PubMed: Kaiyrzhanov 2023 family, 2 affected, unaffected heterozygous parents (1st cousins) F yes Egypt - - - - - 2 Johan den Dunnen
+/. 1 c.187G>T r.(?) p.(Glu63Ter) Both (homozygous) ACMG pathogenic (recessive) g.180471215C>A g.180502080C>A - - ACBD6_000023 ACMG PVS1, PS3, PM2, PP1 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam5Pat2 PubMed: Kaiyrzhanov 2023 relative M yes Egypt - - - - - 1 Johan den Dunnen
+/. 1 c.187G>T r.(?) p.(Glu63Ter) Both (homozygous) ACMG pathogenic (recessive) g.180471215C>A g.180502080C>A - - ACBD6_000023 ACMG PVS1, PS3, PM2, PP1 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam15Pat1 PubMed: Kaiyrzhanov 2023 family, 1 affected, unaffected heterozygous parents (1st cousins) M yes Egypt - - - - - 1 Johan den Dunnen
+?/. 1 c.216C>A r.(?) p.(Tyr72Ter) Both (homozygous) ACMG likely pathogenic (recessive) g.180471186G>T g.180502051G>T - - ACBD6_000022 ACMG PVS1, PM2 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam26Pat1 PubMed: Kaiyrzhanov 2023 family, 2 affected, unaffected heterozygous parents M yes Iraq - - - - - 2 Johan den Dunnen
+?/. 1 c.216C>A r.(?) p.(Tyr72Ter) Both (homozygous) ACMG likely pathogenic (recessive) g.180471186G>T g.180502051G>T - - ACBD6_000022 ACMG PVS1, PM2 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam26Pat2 PubMed: Kaiyrzhanov 2023 relative F yes Iraq - - - - - 1 Johan den Dunnen
+?/. 1 c.217A>T r.(?) p.(Lys73Ter) Both (homozygous) ACMG likely pathogenic (recessive) g.180471185T>A g.180502050T>A - - ACBD6_000021 ACMG PVS1, PM2 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam18Pat1 PubMed: Kaiyrzhanov 2023 family, 1 affected, unaffected heterozygous parents (1st cousins) F yes Saudi Arabia Arab - - - - 1 Johan den Dunnen
+?/. 2 c.280C>T r.(?) p.(Gln94Ter) Both (homozygous) ACMG likely pathogenic (recessive) g.180464603G>A g.180495468G>A - - ACBD6_000020 ACMG PVS1, PM2 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam22Pat1 PubMed: Kaiyrzhanov 2023 family, 2 affected, unaffected heterozygous parents F - United States America-N - - - - 2 Johan den Dunnen
+?/. 2 c.280C>T r.(?) p.(Gln94Ter) Both (homozygous) ACMG likely pathogenic (recessive) g.180464603G>A g.180495468G>A - - ACBD6_000020 ACMG PVS1, PM2 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam22Pat2 PubMed: Kaiyrzhanov 2023 relative F - United States America-N - - - - 1 Johan den Dunnen
+?/. 2 c.285del r.(?) p.(Lys95AsnfsTer23) Both (homozygous) ACMG likely pathogenic (recessive) g.180464602del g.180495467del 285delA - ACBD6_000019 ACMG PVS1, PM2 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam8Pat1 PubMed: Kaiyrzhanov 2023 family, 2 affected, unaffected heterozygous parents (1st cousins) F yes - Tajik - - - - 2 Johan den Dunnen
+?/. 2 c.285del r.(?) p.(Lys95AsnfsTer23) Both (homozygous) ACMG likely pathogenic (recessive) g.180464602del g.180495467del 285delA - ACBD6_000019 ACMG PVS1, PM2 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam8Pat2 PubMed: Kaiyrzhanov 2023 relative M yes - Tajik - - - - 1 Johan den Dunnen
-?/. - c.311A>C r.(?) p.(Asp104Ala) Unknown - likely benign g.180461477T>G g.180492342T>G ACBD6(NM_032360.3):c.311A>C (p.(Asp104Ala)) - ACBD6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.360dup r.(?) p.(Leu121ThrfsTer27) Both (homozygous) ACMG likely pathogenic (recessive) g.180461433dup g.180492298dup 360dupA - ACBD6_000018 ACMG PVS1, PM2 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam28Pat1 PubMed: Kaiyrzhanov 2023 family, 2 affected, unaffected heterozygous parents F no Thailand - 31y - - - 2 Johan den Dunnen
+?/. 2 c.360dup r.(?) p.(Leu121ThrfsTer27) Both (homozygous) ACMG likely pathogenic (recessive) g.180461433dup g.180492298dup 360dupA - ACBD6_000018 ACMG PVS1, PM2 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam28Pat2 PubMed: Kaiyrzhanov 2023 relative M no Thailand - 30y - - - 1 Johan den Dunnen
?/. - c.385-6149A>G r.(=) p.(=) Unknown - VUS g.180405546T>C g.180436411T>C - - ACBD6_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.385-6149A>G r.(=) p.(=) Unknown - VUS g.180405546T>C g.180436411T>C - - ACBD6_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.385-5154_385-5153del r.(=) p.(=) Unknown - VUS g.180404550_180404551del g.180435415_180435416del - - ACBD6_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.385-5152del r.(=) p.(=) Unknown - VUS g.180404550del g.180435415del - - ACBD6_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.385-5152del r.(=) p.(=) Unknown - VUS g.180404550del g.180435415del - - ACBD6_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.385-5056T>C r.(=) p.(=) Both (homozygous) - VUS g.180404453A>G g.180435318A>G - - ACBD6_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.385-5056T>C r.(=) p.(=) Both (homozygous) - VUS g.180404453A>G g.180435318A>G - - ACBD6_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+?/. 5 c.474del r.(?) p.(Asp159ThrfsTer16) Both (homozygous) ACMG likely pathogenic (recessive) g.180382601del g.180413466del 474delA - ACBD6_000017 ACMG PVS1, PM2 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam7Pat1 PubMed: Kaiyrzhanov 2023 family, 2 affected sibs, unaffected heterozygous parents (distant cousins) M yes Pakistan - - - - - 2 Johan den Dunnen
+?/. 5 c.474del r.(?) p.(Asp159ThrfsTer16) Both (homozygous) ACMG likely pathogenic (recessive) g.180382601del g.180413466del 474delA - ACBD6_000017 ACMG PVS1, PM2 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam7Pat2 PubMed: Kaiyrzhanov 2023 relative M yes Pakistan - - - - - 1 Johan den Dunnen
+?/. 5 c.474del r.(?) p.(Asp159ThrfsTer16) Both (homozygous) ACMG likely pathogenic (recessive) g.180382601del g.180413466del 474delA - ACBD6_000017 ACMG PVS1, PM2 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam27Pat1 PubMed: Kaiyrzhanov 2023 family, 2 affected, unaffected heterozygous parents M yes - Asia;Punjab - - - - 2 Johan den Dunnen
+?/. 5 c.474del r.(?) p.(Asp159ThrfsTer16) Both (homozygous) ACMG likely pathogenic (recessive) g.180382601del g.180413466del 474delA - ACBD6_000017 ACMG PVS1, PM2 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam27Pat2 PubMed: Kaiyrzhanov 2023 relative M yes - Asia;Punjab - - - - 1 Johan den Dunnen
+/. 5 c.484_488del r.(?) p.(Ile162Ter) Both (homozygous) ACMG pathogenic (recessive) g.180382587_180382591del g.180413452_180413456del 484_488delATATT - ACBD6_000016 ACMG PVS1, PM2, PP1 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam3Pat1 PubMed: Kaiyrzhanov 2023 family, 2 affected, unaffected heterozygous parents (1st cousins) M yes Turkey - - - - - 2 Johan den Dunnen
+/. 5 c.484_488del r.(?) p.(Ile162Ter) Both (homozygous) ACMG pathogenic (recessive) g.180382587_180382591del g.180413452_180413456del 484_488delATATT - ACBD6_000016 ACMG PVS1, PM2, PP1 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam3Pat2 PubMed: Kaiyrzhanov 2023 relative M yes Turkey - - - - - 1 Johan den Dunnen
+/. 5 c.484_488del r.(?) p.(Ile162Ter) Both (homozygous) ACMG pathogenic (recessive) g.180382587_180382591del g.180413452_180413456del 484_488delATATT - ACBD6_000016 ACMG PVS1, PM2, PP1 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam16Pat1 PubMed: Kaiyrzhanov 2023 family, 1 affected, unaffected heterozygous parents (1st cousins) F yes Brazil - - - - - 1 Johan den Dunnen
+/. 5 c.484_488del r.(?) p.(Ile162Ter) Both (homozygous) ACMG pathogenic (recessive) g.180382587_180382591del g.180413452_180413456del 484_488delATATT - ACBD6_000016 ACMG PVS1, PM2, PP1 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam17Pat1 PubMed: Kaiyrzhanov 2023 family, 2 affected, unaffected heterozygous parents (1st cousins) M yes Portugal - - - - - 2 Johan den Dunnen
+/. 5 c.484_488del r.(?) p.(Ile162Ter) Both (homozygous) ACMG pathogenic (recessive) g.180382587_180382591del g.180413452_180413456del 484_488delATATT - ACBD6_000016 ACMG PVS1, PM2, PP1 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam17Pat2 PubMed: Kaiyrzhanov 2023 relative F yes Portugal - - - - - 1 Johan den Dunnen
+?/. 5 c.539C>A r.(?) p.(Ser180Ter) Both (homozygous) ACMG likely pathogenic (recessive) g.180382535G>T g.180413400G>T - - ACBD6_000015 ACMG PVS1, PM2 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam11Pat1 PubMed: Kaiyrzhanov 2023 family, 1 affected, unaffected heterozygous parents (1st cousins) M yes Turkey - - - - - 1 Johan den Dunnen
+/. 5i c.574-2A>G r.576_580del p.(Arg193SerfsTer7) Both (homozygous) ACMG pathogenic (recessive) g.180366742T>C g.180397607T>C - - ACBD6_000014 ACMG PVS1, PM2, PS3, PP1 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES NDD Fam1Pat1 PubMed: Kaiyrzhanov 2023 family, 3 affected, unaffected heterozygous parents (1st cousins) F yes Iran Persia - - - - 3 Johan den Dunnen
+/. 5i c.574-2A>G r.576_580del p.(Arg193SerfsTer7) Both (homozygous) ACMG pathogenic (recessive) g.180366742T>C g.180397607T>C - - ACBD6_000014 ACMG PVS1, PM2, PS3, PP1 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES NDD Fam1Pat2 PubMed: Kaiyrzhanov 2023 relative M yes Iran Persia - - - - 1 Johan den Dunnen
+/. 5i c.574-2A>G r.576_580del p.(Arg193SerfsTer7) Both (homozygous) ACMG pathogenic (recessive) g.180366742T>C g.180397607T>C - - ACBD6_000014 ACMG PVS1, PM2, PS3, PP1 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES NDD Fam1Pat3 PubMed: Kaiyrzhanov 2023 relative M yes Iran Persia - - - - 1 Johan den Dunnen
+?/. 6 c.594G>A r.(?) p.(Trp198Ter) Both (homozygous) ACMG likely pathogenic (recessive) g.180366720C>T g.180397585C>T - - ACBD6_000013 ACMG PVS1, PM2 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam9Pat1 PubMed: Kaiyrzhanov 2023 family, 1 affected, unaffected heterozygous parents (1st cousins) F yes Iran Persia - - - - 1 Johan den Dunnen
+?/. 6 c.602A>G r.(?) p.(Asp201Gly) Both (homozygous) ACMG likely pathogenic (recessive) g.180366712T>C g.180397577T>C - - ACBD6_000012 ACMG PS3, PM2, PP1 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam10Pat1 PubMed: Kaiyrzhanov 2023 family, 2 affected, unaffected heterozygous parents (1st cousins) F yes Egypt - - - - - 2 Johan den Dunnen
+?/. 6 c.602A>G r.(?) p.(Asp201Gly) Both (homozygous) ACMG likely pathogenic (recessive) g.180366712T>C g.180397577T>C - - ACBD6_000012 ACMG PS3, PM2, PP1 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam10Pat2 PubMed: Kaiyrzhanov 2023 relative M yes Egypt - - - - - 1 Johan den Dunnen
+?/. 6 c.602A>G r.(?) p.(Asp201Gly) Both (homozygous) ACMG likely pathogenic (recessive) g.180366712T>C g.180397577T>C - - ACBD6_000012 ACMG PS3, PM2, PP1 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam19Pat1 PubMed: Kaiyrzhanov 2023 family, affected twins, unaffected heterozygous parents (1st cousins) F yes Palestine Arab - - - - 2 Johan den Dunnen
+?/. 6 c.602A>G r.(?) p.(Asp201Gly) Both (homozygous) ACMG likely pathogenic (recessive) g.180366712T>C g.180397577T>C - - ACBD6_000012 ACMG PS3, PM2, PP1 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam19Pat2 PubMed: Kaiyrzhanov 2023 twin F yes Palestine Arab - - - - 1 Johan den Dunnen
?/. 6 c.654_656dupTAA r.(?) p.(Asn219dup) Both (homozygous) ACMG VUS g.180366658_180366660dup g.180397523_180397525dup 654_656dupTAA - ACBD6_000011 ACMG PM2, PM4 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam6Pat1 PubMed: Kaiyrzhanov 2023 family, 2 affected, unaffected heterozygous parents (1st cousins) M yes Pakistan - - - - - 2 Johan den Dunnen
?/. 6 c.654_656dupTAA r.(?) p.(Asn219dup) Both (homozygous) ACMG VUS g.180366658_180366660dup g.180397523_180397525dup 654_656dupTAA - ACBD6_000011 ACMG PM2, PM4 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam6Pat2 PubMed: Kaiyrzhanov 2023 relative F yes Pakistan - - - - - 1 Johan den Dunnen
+/. 6i_7i c.664-18556_694+8366del r.(664_694del) p.(Asp222ProfsTer10) Both (homozygous) ACMG pathogenic (recessive) g.180275463_180302415del g.180306328_180333280del - - ACBD6_000008 ACMG PVS1, PM2, PP1 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam23Pat1 PubMed: Kaiyrzhanov 2023 family, 2 affected, unaffected heterozygous parents (2nd cousins) M yes Saudi Arabia Arab - - - - 2 Johan den Dunnen
+/. 6i_7i c.664-18556_694+8366del r.(664_694del) p.(Asp222ProfsTer10) Both (homozygous) ACMG pathogenic (recessive) g.180275463_180302415del g.180306328_180333280del - - ACBD6_000008 ACMG PVS1, PM2, PP1 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam23Pat2 PubMed: Kaiyrzhanov 2023 relative M - Saudi Arabia Arab - - - - 1 Johan den Dunnen
+/. 6i_7i c.664-18556_694+8366del r.(664_694del) p.(Asp222ProfsTer10) Both (homozygous) ACMG pathogenic (recessive) g.180275463_180302415del g.180306328_180333280del - - ACBD6_000008 ACMG PVS1, PM2, PP1 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam24Pat1 PubMed: Kaiyrzhanov 2023 family, 1 affected, unaffected heterozygous parents M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 6i c.664-2A>G r.(664_694del) p.(Asp222ProfsTer10) Both (homozygous) ACMG pathogenic (recessive) g.180283859T>C g.180314724T>C - - ACBD6_000010 ACMG PVS1, PS3, PM2; effect on splicing predicted from in vitro mini-gene splicing assay PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam13Pat1 PubMed: Kaiyrzhanov 2023 family, 1 affected, unaffected heterozygous parents (1st cousins) M yes Egypt - - - - - 1 Johan den Dunnen
+/. 7i c.694+1G>A r.[(664_694del,694_695ins[a;694+2_694+23)] p.[(Asp222ProfsTer10,Ala232AspfsTer8)] Both (homozygous) ACMG pathogenic (recessive) g.180283826C>T g.180314691C>T IVS7+1G>A - ACBD6_000009 ACMG PVS1, PS3, PM2; effect on splicing predicted from in vitro mini-gene splicing assay PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam12Pat1 PubMed: Kaiyrzhanov 2023 family, 2 affected, unaffected heterozygous parents F - United States American-native-Choctaw - - - - 2 Johan den Dunnen
+/. 7i c.694+1G>A r.[(664_694del,694_695ins[a;694+2_694+23)] p.[(Asp222ProfsTer10,Ala232AspfsTer8)] Both (homozygous) ACMG pathogenic (recessive) g.180283826C>T g.180314691C>T IVS7+1G>A - ACBD6_000009 ACMG PVS1, PS3, PM2; effect on splicing predicted from in vitro mini-gene splicing assay PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam12Pat2 PubMed: Kaiyrzhanov 2023 relative F - United States American-native-Choctaw - - - - 1 Johan den Dunnen
?/. 8 c.719_723del r.(?) p.(Ile240ArgfsTer9) Both (homozygous) ACMG VUS g.180257626_180257630del g.180288491_180288495del 719_723delTTGTA - ACBD6_000007 ACMG PVS1_moderate, PM2 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam14Pat1 PubMed: Kaiyrzhanov 2023 family, 1 affected, unaffected heterozygous parents (1st cousins) M yes Iraq Persian - - - - 1 Johan den Dunnen
?/. 8 c.760C>T r.(?) p.(Arg254Ter) Both (homozygous) ACMG VUS g.180257587G>A g.180288452G>A - - ACBD6_000006 ACMG PVS1_Moderate, PM2 PubMed: Kaiyrzhanov 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam4Pat1 PubMed: Kaiyrzhanov 2023 family, 1 affected, unaffected heterozygous parents (1st cousins) M yes Bangladesh - - - - - 1 Johan den Dunnen
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