Full data view for gene SLC35A2

Information The variants shown are described using the NM_005660.1 transcript reference sequence.

108 entries on 2 pages. Showing entries 1 - 100.
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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.-3566G>A r.(?) p.(=) Unknown - likely benign g.48772479C>T - PIM2(NM_006875.4):c.413G>A (p.(Gly138Asp)) - SLC35A2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2550C>T r.(?) p.(=) Unknown - likely benign g.48771463G>A - PIM2(NM_006875.3):c.881C>T (p.P294L) - SLC35A2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-236G>T r.(?) p.(=) Unknown - likely benign g.48769149C>A g.48911872C>A SLC35A2(NM_001282648.1):c.6G>T (p.K2N) - SLC35A2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1A>G r.(?) p.0? Unknown - pathogenic g.48768913T>C g.48911636T>C - - SLC35A2_000056 - - - - De novo - - - - - DNA SEQ-NG - - CDG2M - - - F no - - - - - - 1 Bobby Ng
?/. - c.26C>T r.(?) p.(Ser9Phe) Unknown - VUS g.48768888G>A g.48911611G>A - - SLC35A2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.30C>G r.(?) p.(Thr10=) Unknown - likely benign g.48768884G>C g.48911607G>C SLC35A2(NM_001282651.1):c.30C>G (p.T10=), SLC35A2(NM_001282651.2):c.30C>G (p.T10=) - SLC35A2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.30C>G r.(?) p.(Thr10=) Unknown - likely benign g.48768884G>C g.48911607G>C SLC35A2(NM_001282651.1):c.30C>G (p.T10=), SLC35A2(NM_001282651.2):c.30C>G (p.T10=) - SLC35A2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.43C>A r.(?) p.(Pro15Thr) Unknown - benign g.48768871G>T g.48911594G>T SLC35A2(NM_001032289.1):c.43C>A (p.(Pro15Thr)), SLC35A2(NM_001282651.2):c.43C>A (p.P15T) - SLC35A2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.43C>A r.(?) p.(Pro15Thr) Unknown - benign g.48768871G>T - SLC35A2(NM_001032289.1):c.43C>A (p.(Pro15Thr)), SLC35A2(NM_001282651.2):c.43C>A (p.P15T) - SLC35A2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.72G>T r.(?) p.(Glu24Asp) Unknown - likely benign g.48768842C>A g.48911565C>A SLC35A2(NM_001282651.1):c.72G>T (p.E24D) - SLC35A2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.91+7_91+8del r.(=) p.(=) Unknown - VUS g.48768816_48768817del g.48911539_48911540del SLC35A2(NM_001282650.1):c.98_99delCA (p.T33Sfs*73) - SLC35A2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.91+15_91+16insT r.(=) p.(=) Unknown - likely benign g.48768807_48768808insA - SLC35A2(NM_001282650.1):c.106_107insT (p.P36Lfs*71) - SLC35A2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.91+18A>G r.(=) p.(=) Unknown - VUS g.48768805T>C - SLC35A2(NM_001282650.1):c.109A>G (p.S37G) - SLC35A2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.92-288G>A r.(=) p.(=) Unknown - likely benign g.48767561C>T g.48910284C>T SLC35A2(NM_001282651.1):c.125G>A (p.R42H) - SLC35A2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.92-238G>T r.(=) p.(=) Unknown - likely benign g.48767511C>A g.48910234C>A SLC35A2(NM_001042498.3):c.92-238G>T - SLC35A2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.92-11G>A r.(=) p.(=) Unknown - likely benign g.48767284C>T - SLC35A2(NM_001282651.2):c.176-11G>A - SLC35A2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.124del r.(?) p.(Val42CysfsTer53) Unknown - pathogenic g.48767241del g.48909964del SLC35A2(NM_001282651.2):c.208delG (p.V70Cfs*53) - SLC35A2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.164G>C r.(?) p.(Arg55Pro) Unknown - pathogenic g.48767201C>G g.48909924C>G - - SLC35A2_000055 - - - - De novo - - - - - DNA SEQ-NG - - CDG2M - - - F no - - - - - - 1 Bobby Ng
+?/. - c.164G>T r.(?) p.(Arg55Leu) Unknown - likely pathogenic g.48767201C>A - - - SLC35A2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.168C>A r.(?) p.(Tyr56*) Unknown - pathogenic g.48767197G>T g.48909920G>T - - SLC35A2_000054 - - - - De novo - - - - - DNA SEQ-NG - - CDG2M - - - F no - - - - - - 1 Bobby Ng
+?/. - c.193_204del r.(?) p.(Phe65_Thr68del) Unknown - likely pathogenic g.48767162_48767173del g.48909885_48909896del - - SLC35A2_000033 - - - - De novo - - - - - DNA SEQ-NG - - CDG2M - - - F no - - - - - - 1 Bobby Ng
+/. - c.211G>A r.(?) p.(Val71Met) Unknown - pathogenic g.48767154C>T g.48909877C>T - - SLC35A2_000053 - - - - De novo - - - - - DNA SEQ-NG - - CDG2M - - - F no - - - - - - 1 Bobby Ng
+/. - c.245G>T r.(?) p.(Cys82Phe) Unknown - pathogenic g.48767120C>A g.48909843C>A - - SLC35A2_000052 - - - - De novo - - - - - DNA SEQ-NG - - CDG2M - - - F no - - - - - - 1 Bobby Ng
+?/. - c.245G>T r.245g>u p.(Cys82Phe) Unknown - likely pathogenic (dominant) g.48767120C>A g.48909843C>A - - SLC35A2_000052 - PubMed: Lee 2019 ClinVar-000622164.2 - Somatic - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG fibroblast WES ? Pat10 PubMed: Lee 2019 - - - United States - - - - - 1 Johan den Dunnen
-?/. - c.261C>T r.(?) p.(Phe87=) Unknown - likely benign g.48767104G>A g.48909827G>A SLC35A2(NM_001282651.1):c.345C>T (p.F115=) - SLC35A2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.274+2T>C r.spl? p.? Unknown - pathogenic g.48767089A>G g.48909812A>G - - SLC35A2_000051 - - - - De novo - - - - - DNA SEQ-NG - - CDG2M - - - F no - - - - - - 1 Bobby Ng
+/. - c.302T>C r.(?) p.(Leu101Pro) Unknown - pathogenic g.48763793A>G g.48906516A>G - - SLC35A2_000050 - - - - De novo - - - - - DNA SEQ-NG - - CDG2M - - - F no - - - - - - 1 Bobby Ng
+?/. - c.346G>C r.(?) p.(Ala116Pro) Unknown - likely pathogenic g.48763749C>G g.48906472C>G - - SLC35A2_000049 - - - - De novo - - - - - DNA SEQ-NG - - CDG2M - - - F no - - - - - - 1 Bobby Ng
+/. - c.348del r.(?) p.(Val117Cysfs*27) Unknown - pathogenic g.48763747del g.48906470del 348delA - SLC35A2_000048 - - - - De novo - - - - - DNA SEQ-NG - - CDG2M - - - F no - - - - - - 1 Bobby Ng
-?/. - c.350T>C r.(?) p.(Val117Ala) Unknown - likely benign g.48763745A>G g.48906468A>G - - SLC35A2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.350T>C r.(?) p.(Val117Ala) Both (homozygous) ACMG VUS g.48763745A>G g.48906468A>G - - SLC35A2_000027 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M002 PubMed: Hu 2019 family, 2 affected individuals, third cousin parents - yes Iran Persia - - - - 2 Johan den Dunnen
+?/. - c.353C>G r.(?) p.(Pro118Arg) Unknown - likely pathogenic g.48763742G>C g.48906465G>C - - SLC35A2_000047 - - - - De novo - - - - - DNA SEQ-NG - - CDG2M - - - F no - - - - - - 1 Bobby Ng
+/. - c.389A>G r.(?) p.(Tyr130Cys) Unknown - pathogenic g.48763706T>C g.48906429T>C - - SLC35A2_000046 - - - - De novo - - - - - DNA SEQ-NG - - CDG2M - - - F no - - - - - - 1 Bobby Ng
?/. - c.426+188T>C r.(=) p.(=) Maternal (inferred) - VUS g.48763481A>G g.48906204= - - SLC35A2_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.426+188T>C r.(=) p.(=) Maternal (inferred) - VUS g.48763481A>G g.48906204= - - SLC35A2_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+?/? 4 c.433_434del r.(?) p.(Tyr145Profs*76) Unknown - likely pathogenic g.48762753_48762754del g.48905476_48905477del - - SLC35A2_000007 - - - - De novo yes - - - - DNA SEQ-NG-I - - ID - - early-onset epileptic encephalopathy F no Japan - - - - - 1 Hirotomo Saitsu
?/. - c.497G>A r.(?) p.(Arg166Gln) Unknown - VUS g.48762689C>T g.48905412C>T SLC35A2(NM_001282651.1):c.581G>A (p.R194Q) - SLC35A2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.497_501dup r.(?) p.(Gln168Glyfs*183) Unknown - pathogenic g.48762685_48762689dup g.48905408_48905412dup - - SLC35A2_000045 - - - - De novo - - - - - DNA SEQ-NG - - CDG2M - - - F no - - - - - - 1 Bobby Ng
+/. - c.502C>T r.(?) p.(Gln168*) Unknown - pathogenic g.48762684G>A g.48905407G>A - - SLC35A2_000044 - - - - De novo - - - - - DNA SEQ-NG - - CDG2M - - - F no - - - - - - 1 Bobby Ng
?/. - c.508G>C r.(?) p.(Ala170Pro) Unknown - VUS g.48762678C>G g.48905401C>G - - SLC35A2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.523C>T r.(?) p.(Leu175Phe) Unknown - pathogenic g.48762663G>A g.48905386G>A - - SLC35A2_000043 - - - - De novo - - - - - DNA SEQ-NG - - CDG2M - - - F no - - - - - - 1 Bobby Ng
+?/. - c.523_525del r.(?) p.(Leu175del) Unknown - likely pathogenic g.48762664_48762666del g.48905387_48905389del 523_525delCTC - SLC35A2_000030 - - - - De novo - - - - - RNA, protein SEQ-NG - - CDG - - - F - - - - - - - 1 Bobby Ng
+/. - c.547C>T r.(?) p.(Gln183*) Unknown - pathogenic g.48762639G>A g.48905362G>A - - SLC35A2_000042 - - - - De novo - - - - - DNA SEQ-NG - - CDG2M - - - F no - - - - - - 1 Bobby Ng
?/. - c.562G>A r.(?) p.(Gly188Ser) Unknown - VUS g.48762624C>T g.48905347C>T - - SLC35A2_000032 - - - - De novo - - - - - DNA SEQ-NG - - CDG2M - - - F no - - - - - - 1 Bobby Ng
+/. - c.569dup r.(?) p.(Gly191Argfs*31) Unknown - pathogenic g.48762621dup g.48905344dup - - SLC35A2_000025 - - - - De novo - - - - - DNA SEQ-NG - - CDG2M - - - F no - - - - - - 1 Bobby Ng
-?/. - c.615C>T r.(?) p.(Ala205=) Unknown - likely benign g.48762571G>A g.48905294G>A SLC35A2(NM_001282651.1):c.699C>T (p.A233=) - SLC35A2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.616G>A r.(?) p.(Val206Ile) Unknown - VUS g.48762570C>T g.48905293C>T - - SLC35A2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.617del r.(?) p.(Val206Alafs*143) Unknown - pathogenic g.48762569del g.48905292del - - SLC35A2_000041 - - - - De novo - - - - - DNA SEQ-NG - - CDG2M - - - F no - - - - - - 1 Bobby Ng
?/. - c.631C>G r.(?) p.(Leu211Val) Unknown - VUS g.48762555G>C g.48905278G>C - - TIMM17B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.638C>T r.(?) p.(Ser213Phe) Unknown - VUS g.48762548G>A g.48905271G>A - - SLC35A2_000006 - - - - De novo yes - - - - DNA SEQ - - ID - - early-onset epileptic encephalopathy F no Japan - - - - - 1 Hirotomo Saitsu
-?/. - c.639C>T r.(?) p.(Ser213=) Unknown - likely benign g.48762547G>A - SLC35A2(NM_001282651.2):c.723C>T (p.S241=) - TIMM17B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.698T>C r.(?) p.(Leu233Pro) Unknown - pathogenic g.48762488A>G g.48905211A>G - - SLC35A2_000040 - - - - De novo - - - - - DNA SEQ-NG - - CDG2M - - - F no - - - - - - 1 Bobby Ng
+/. - c.747_757dup r.(?) p.(Ala253Glyfs*100) Unknown - pathogenic g.48762437_48762447dup g.48905160_48905170dup - - SLC35A2_000039 - - - - De novo - - - - - DNA SEQ-NG - - CDG2M - - - F no - - - - - - 1 Bobby Ng
+/. - c.753del r.(?) p.(Trp251CysfsTer98) Unknown - pathogenic g.48762434del g.48905157del SLC35A2(NM_001042498.2):c.753delG (p.W251Cfs*98) - SLC35A2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.771C>T r.(?) p.(Ala257=) Unknown - likely benign g.48762415G>A - SLC35A2(NM_001282651.1):c.855C>T (p.A285=), SLC35A2(NM_001282651.2):c.855C>T (p.A285=) - TIMM17B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.771C>T r.(?) p.(Ala257=) Unknown - likely benign g.48762415G>A - SLC35A2(NM_001282651.1):c.855C>T (p.A285=), SLC35A2(NM_001282651.2):c.855C>T (p.A285=) - TIMM17B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.795del r.(?) p.(Phe265Leufs*84) Unknown - pathogenic g.48762396del g.48905119del 795delT - SLC35A2_000038 - - - - De novo - - - - - DNA SEQ-NG - - CDG2M - - - F no - - - - - - 1 Bobby Ng
+?/. 4 c.800A>G r.(?) p.(Tyr267Cys) Unknown - likely pathogenic g.48762386T>C g.48905109T>C - - SLC35A2_000009 - PubMed: Bosch 2016, Journal: Bosch 2016 - - De novo - - - - - DNA SEQ-NG - - CVI, ID - PubMed: Bosch 2016, Journal: Bosch 2016 - F no Netherlands - - - - - 1 Danielle Bosch
+?/. - c.816G>A r.(?) p.(Trp272*) Unknown - likely pathogenic g.48762370C>T g.48905093C>T - - SLC35A2_000031 - - - - De novo - - - - - DNA SEQ-NG - - CDG - - - F no - - - - - - 1 Bobby Ng
+/. - c.818G>A r.(?) p.(Gly273Asp) Unknown - pathogenic g.48762368C>T g.48905091C>T SLC35A2(NM_001042498.3):c.818G>A (p.G273D) - SLC35A2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.818G>A r.(?) p.(Gly273Asp) Unknown - pathogenic g.48762368C>T g.48905091C>T - - SLC35A2_000013 - - - - De novo - - - - - DNA SEQ-NG - - CDG2M - - - F no - - - - - - 1 Bobby Ng
-?/. - c.828C>T r.(?) p.(Leu276=) Unknown - likely benign g.48762358G>A g.48905081G>A SLC35A2(NM_001282651.1):c.912C>T (p.L304=) - TIMM17B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.844G>A r.(?) p.(Gly282Arg) Unknown - likely pathogenic g.48762342C>T g.48905065C>T - - SLC35A2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.856del r.(?) p.(Ala286Leufs*63) Unknown - pathogenic g.48762331del g.48905054del - - SLC35A2_000037 - - - - De novo - - - - - DNA SEQ-NG - - CDG2M - - - F no - - - - - - 1 Bobby Ng
+/. - c.908T>C r.(?) p.(Leu303Pro) Unknown - pathogenic g.48762278A>G g.48905001A>G - - SLC35A2_000036 - - - - De novo - - - - - DNA SEQ-NG - - CDG2M - - - F no - - - - - - 1 Bobby Ng
?/. - c.918_929dup r.(?) p.(Leu307_Val310dup) Unknown - VUS g.48762260_48762271dup g.48904983_48904994dup - - SLC35A2_000068 - PubMed: Poli 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? Pat90 PubMed: Poli 2024 - F - Chile - - - - - 1 Johan den Dunnen
+/. - c.935C>A r.(?) p.(Ser312Tyr) Unknown - pathogenic g.48762251G>T g.48904974G>T - - SLC35A2_000035 - - - - De novo - - - - - DNA SEQ-NG - - CDG2M - - - F no - - - - - - 1 Bobby Ng
?/. - c.941G>T r.(?) p.(Arg314Leu) Unknown - VUS g.48762245C>A g.48904968C>A SLC35A2(NM_001282651.1):c.1025G>T (p.R342L) - SLC35A2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.944T>C r.(?) p.(Leu315Pro) Unknown - pathogenic g.48762242A>G g.48904965A>G - - SLC35A2_000034 - - - - De novo - - - - - DNA SEQ-NG - - CDG2M - - - M no - - - - - - 1 Bobby Ng
+?/? 4 c.972del r.(?) p.(Phe324Leufs*25) Unknown - likely pathogenic g.48762216del g.48904939del - - SLC35A2_000008 - - - - De novo yes - - - - DNA SEQ-NG-I - - ID - - - F no Japan - - - - - 1 Hirotomo Saitsu
-?/. - c.990C>T r.(?) p.(Leu330=) Unknown - likely benign g.48762196G>A - SLC35A2(NM_001282651.1):c.1074C>T (p.L358=), SLC35A2(NM_005660.3):c.990C>T (p.(Leu330=)) - TIMM17B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.990C>T r.(?) p.(Leu330=) Unknown - benign g.48762196G>A - SLC35A2(NM_001282651.1):c.1074C>T (p.L358=), SLC35A2(NM_005660.3):c.990C>T (p.(Leu330=)) - TIMM17B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.991G>A r.(?) p.(Val331Ile) Unknown - pathogenic g.48762195C>T g.48904918C>T - - SLC35A2_000029 - PubMed: Lionel 2018 - - De novo - - - - - DNA SEQ - WGS ? 28771251-Pat86 PubMed: Lionel 2018 - F - Canada - - - - - 1 Johan den Dunnen
+/. - c.991G>A r.(?) p.(Val331Ile) Unknown - pathogenic g.48762195C>T g.48904918C>T - - SLC35A2_000029 - - - - De novo - - - - - DNA SEQ-NG - - CDG2M - - - F no - - - - - - 1 Bobby Ng
+/. - c.991G>A r.(?) p.(Val331Ile) Unknown - pathogenic (dominant) g.48762195C>T - G991A - SLC35A2_000029 - PubMed: Cao 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? CFD4A PubMed: Cao 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents - - - - - - - - 1 Johan den Dunnen
?/. - c.1007A>G r.(?) p.(Tyr336Cys) Unknown - VUS g.48762179T>C g.48904902T>C SLC35A2(NM_001282651.1):c.1091A>G (p.Y364C) - SLC35A2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1039G>A r.(?) p.(Ala347Thr) Unknown - likely benign g.48762147C>T - SLC35A2(NM_001282651.2):c.1123G>A (p.A375T) - TIMM17B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1062C>T r.(?) p.(Ser354=) Unknown - likely benign g.48762124G>A g.48904847G>A SLC35A2(NM_001032289.2):c.472C>T (p.R158C) - TIMM17B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1077C>T r.(?) p.(Cys359=) Unknown - VUS g.48762109G>A - SLC35A2(NM_001032289.2):c.487C>T (p.R163C) - TIMM17B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1129C>T r.(?) p.(Arg377Cys) Unknown - likely benign g.48762057G>A g.48904780G>A SLC35A2(NM_001032289.1):c.539C>T (p.(Pro180Leu)) - SLC35A2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1130G>A r.(?) p.(Arg377His) Unknown - likely benign g.48762056C>T - SLC35A2(NM_001282651.1):c.1214G>A (p.R405H) - TIMM17B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1163+34G>A r.(=) p.(=) Unknown - likely benign g.48761989C>T g.48904712C>T SLC35A2(NM_001032289.2):c.607G>A (p.G203R) - TIMM17B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1163+39G>C r.(=) p.(=) Unknown - likely benign g.48761984C>G - SLC35A2(NM_001032289.3):c.612G>C (p.G204=) - TIMM17B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1164-51G>A r.(=) p.(=) Maternal (inferred) - VUS g.48760793C>T g.48903516C>T - - SLC35A2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1164-51G>A r.(=) p.(=) Maternal (inferred) - VUS g.48760793C>T g.48903516C>T - - SLC35A2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*7G>C r.(=) p.(=) Unknown - VUS g.48760708C>G - SLC35A2(NM_001282647.2):c.608G>C (p.(Gly203Ala)) - TIMM17B_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*19T>A r.(=) p.(=) Unknown - VUS g.48760696A>T - SLC35A2(NM_001042498.3):c.*1308T>A - TIMM17B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*79T>C r.(=) p.(=) Unknown - likely benign g.48760636A>G g.48903359A>G SLC35A2(NM_005660.3):c.*79T>C - TIMM17B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*698G>A r.(=) p.(=) Unknown - pathogenic g.48760017C>T g.48902740C>T PQBP1(NM_005710.2):c.586C>T (p.R196*) - PQBP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*699G>A r.(=) p.(=) Unknown - likely benign g.48760016C>T g.48902739C>T PQBP1(NM_005710.2):c.585C>T (p.S195=) - TIMM17B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*699G>A r.(=) p.(=) Unknown - likely benign g.48760016C>T g.48902739C>T PQBP1(NM_005710.2):c.585C>T (p.S195=) - TIMM17B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*708T>C r.(=) p.(=) Unknown - VUS g.48760007A>G - PQBP1(NM_005710.2):c.578-2A>G - TIMM17B_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*935G>C r.(=) p.(=) Unknown - VUS g.48759780C>G - PQBP1(NM_005710.2):c.563C>G (p.P188R) - TIMM17B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1022C>T r.(=) p.(=) Unknown - VUS g.48759693G>A - PQBP1(NM_005710.2):c.476G>A (p.R159Q) - TIMM17B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1041T>C r.(=) p.(=) Unknown - likely benign g.48759674A>G - PQBP1(NM_001032382.1):c.457A>G (p.(Arg153Gly)) - TIMM17B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1068G>A r.(=) p.(=) Unknown - VUS g.48759647C>T g.48902370C>T PQBP1(NM_005710.2):c.430C>T (p.R144C) - TIMM17B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1101G>A r.(=) p.(=) Unknown - likely benign g.48759614C>T g.48902337C>T PQBP1(NM_001032381.1):c.397C>T (p.(Arg133Trp)) - PQBP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1101G>C r.(=) p.(=) Unknown - VUS g.48759614C>G - PQBP1(NM_005710.2):c.397C>G (p.(Arg133Gly)) - TIMM17B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1153_*1194del r.(=) p.(=) Unknown - VUS g.48759525_48759566del - PQBP1(NM_005710.2):c.308_349del (p.L103_K116del) - TIMM17B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1157T>C r.(=) p.(=) Unknown - likely benign g.48759558A>G g.48902281A>G PQBP1(NM_005710.2):c.341A>G (p.H114R) - TIMM17B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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