Full data view for gene SLC38A8

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

141 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     
+/. _1_1i c.-1_(189+1_190-1){0} r.0? p.0? Maternal (confirmed) - pathogenic (recessive) g.(84070506_84075573)_(84075765_?)del g.(84036901_84041968)_(84042160_?)del del ex1 - SLC38A8_000051 - PubMed: Kuht 2020 - - Germline - - - - - DNA SEQ-NG Cheek cells - FVH2 F9:II-1 PubMed: Kuht 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) - - - - - 1 Mohammed A.M Derar
+/. - c.-1_*1{0} r.0? p.0? Paternal (confirmed) - pathogenic (recessive) g.(?_84040000)_(84220000_?)del - large deletion - SLC38A8_000000 large deletion, not specified; deletion may include DNAAF1 explaining Kartagener syndrome PubMed: Poulter 2013 - - Germline - - - - - DNA SEQ - - FVH2 F3 PubMed: Poulter 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Netherlands - - - - - 1 Johan den Dunnen
+/. - c.-247_*117{0} r.0 p.0 Parent #2 - likely pathogenic (recessive) g.(?_84043272)_(84076009_?)del g.(?_84009667)_(84042404_?)del whole gene deletion - SLC38A8_000076 - PubMed: Ehrenberg 2021 - - Germline - - - - - DNA SEQ-NG - - FVH2 Pat2 PubMed: Ehrenberg 2021 no pedigree data available M - Israel Jewish-Ashkenazi - - - - 1 Mohammed A.M Derar
+/. - c.6_9del r.(?) p.(Glu2Aspfs*32) Parent #1 ACMG pathogenic (recessive) g.84075757_84075760del g.84042152_84042155del - - SLC38A8_000072 ACMG PVS1 & PM2 PubMed: Lasseaux 2018 - - Germline ? - - - - DNA SEQ-NG - - FVH2 SLC38A8-P4 PubMed: Lasseaux 2018 no pedigree data available ? - - white - - - - 1 Mohammed A.M Derar
-?/. - c.14C>T r.(?) p.(Thr5Ile) Unknown - likely benign g.84075749G>A g.84042144G>A SLC38A8(NM_001080442.3):c.14C>T (p.T5I) - SLC38A8_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.16C>T r.(?) p.(Pro6Ser) Unknown - benign g.84075747G>A g.84042142G>A SLC38A8(NM_001080442.3):c.16C>T (p.P6S) - SLC38A8_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.34C>A r.(?) p.(Pro12Thr) Unknown - likely benign g.84075729G>T g.84042124G>T SLC38A8(NM_001080442.3):c.34C>A (p.P12T) - SLC38A8_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 1 c.95A>C r.(?) p.(Ile32Ser) Parent #1 - likely pathogenic g.84075668T>G g.84042063A>C - - SLC38A8_000001 5 heterozygotes in 50 individuals Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Perez 2014 - - Germline no 5/100 chromosomes BtsCI- - - DNA PCRdig - - Healthy/Control - PubMed: Perez 2014 50 controls - - Israel Jewish;India - - - - 50 Johan den Dunnen
+?/. 1 c.95T>G r.(?) p.(Ile32Ser) Both (homozygous) - likely pathogenic (recessive) g.84075668A>C g.84042063A>C - - SLC38A8_000001 homozygosity mapping in 3 apparently unrelated families PubMed: Perez 2014 - - Germline yes - BtsCI- - - DNA PCRdig, SEQ, SEQ-NG-I - - FVH2 FamP1 PubMed: Perez 2014 2-generation family, 3 affected sisters F no Israel Jewish;India - - - - 3 Yonatan Perez
+?/. 1 c.95T>G r.(?) p.(Ile32Ser) Both (homozygous) - likely pathogenic g.84075668A>C g.84042063A>C - - SLC38A8_000001 - Sharon, submitted - - Germline - - - - - DNA SEQ - - FVH2 - Sharon, submitted - M no Israel India;Jewish - - - - 2 Dror Sharon
+/. - c.95T>G r.(?) p.(Ile32Ser) Unknown ACMG pathogenic g.84075668A>C - - - SLC38A8_000001 - PubMed: Sharon 2019 - - Germline - 5/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 5 IRD families - - Israel - - - - - 5 Global Variome, with Curator vacancy
+?/. 1 c.95T>G r.(?) p.(Ile32Ser) Both (homozygous) - likely pathogenic (recessive) g.84075668A>C g.84042063A>C - - SLC38A8_000001 - PubMed: Perez 2014 - - Germline yes - BtsCI- - - DNA PCRdig, SEQ, SEQ-NG-I - - FVH2 FamP2 PubMed: Perez 2014 2-generation family, affected brother/sister - no Israel Jewish;India - - - - 2 Yonatan Perez
+?/. 1 c.95T>G r.(?) p.(Ile32Ser) Both (homozygous) - likely pathogenic (recessive) g.84075668A>C g.84042063A>C - - SLC38A8_000001 - PubMed: Perez 2014 - - Germline yes - BtsCI- - - DNA PCRdig, SEQ, SEQ-NG-I - - FVH2 FamP3 PubMed: Perez 2014 2-generation family, affected father/2 sons/daughter - no Israel Jewish;India - - - - 4 Yonatan Perez
+?/. - c.95T>G r.(?) p.(Ile32Ser) Maternal (inferred) ACMG likely pathogenic (recessive) g.84075668A>C g.84042063A>C - - SLC38A8_000001 ACMG PP3, PS4 & PM3 PubMed: Weiner 2020 - rs587777253 Germline yes - - - - DNA SEQ-NG - - FVH2 Fam5RP0057 PubMed: Weiner 2020 The only offspring in a 2 generation family, parents asymptomatic F no Israel Jewish-India - - - - 1 Mohammed A.M Derar
+?/. - c.95T>G r.(?) p.(Ile32Ser) Both (homozygous) ACMG likely pathogenic (dominant) g.84075668A>C g.84042063A>C - - SLC38A8_000001 ACMG PP3, PS4 & PP1 PubMed: Weiner 2020 - rs587777253 Germline yes - - - - DNA SEQ-NG - - FVH2 Fam4NY0048 PubMed: Weiner 2020 2 generation family with one affected offspring and one unaffected F no Israel Jewish-India - - - - 1 Mohammed A.M Derar
+?/. - c.95T>G r.(?) p.(Ile32Ser) Both (homozygous) ACMG likely pathogenic (recessive) g.84075668A>C - - - SLC38A8_000001 ACMG PP3, PS4 & PP1 PubMed: Ehrenberg 2021 - rs587777253 Germline ? - - - - DNA SEQ-NG - - FVH2 Pat4 PubMed: Ehrenberg 2021 no pedigree data available F - Israel Jewish-India - - - - 1 Mohammed A.M Derar
+/. - c.95T>G r.(?) p.(Ile32Ser) Both (homozygous) - pathogenic (recessive) g.84075668A>C g.84042063A>C - - SLC38A8_000001 - PubMed: Weiner 2020 - - Germline yes - - - - DNA SEQ - - FVH2 Fam1 PubMed: Weiner 2020 2-generation family, 3 affected (2F, M), unaffected heterozygous carrier relatives F;M - Israel Jewish-Karait - - - - 3 Johan den Dunnen
+/. - c.95T>G r.(?) p.(Ile32Ser) Both (homozygous) - pathogenic (recessive) g.84075668A>C g.84042063A>C - - SLC38A8_000001 - PubMed: Weiner 2020 - - Germline yes - - - - DNA SEQ - - FVH2 Fam3 PubMed: Weiner 2020 2-generation family, 2 affected brothers, unaffected parents M - Israel Jewish-India - - - - 2 Johan den Dunnen
+/. - c.95T>G r.(?) p.(Ile32Ser) Both (homozygous) - pathogenic (recessive) g.84075668A>C g.84042063A>C - - SLC38A8_000001 - PubMed: Weiner 2020 - - Germline yes - - - - DNA SEQ - - FVH2 Fam2 PubMed: Weiner 2020 2-generation family, 1 affected, unaffected heterozygous carrier relatives M - Israel Jewish-Karait - - - - 1 Johan den Dunnen
+?/. - c.95T>G r.(?) p.(Ile32Ser) Both (homozygous) ACMG likely pathogenic (recessive) g.84075668A>C - c.95T>G, p.Ile32Ser - SLC38A8_000001 ACMG PP3, PS4 & PP1 PubMed: Ehrenberg 2021 - rs587777253 Germline ? - - - - DNA SEQ-NG - - FVH2 Pat 3 PubMed: Ehrenberg 2021 No pedigree data available F - Israel Indian jew - - - - 1 Mohammed A.M Derar
+?/. - c.95T>G r.(?) p.(Ile32Ser) Both (homozygous) ACMG likely pathogenic (recessive) g.84075668A>C - c.95T>G, p.Ile32Ser - SLC38A8_000001 ACMG PP3, PS4 & PP1 PubMed: Weiner 2020 - rs587777253 Germline yes - - - - DNA SEQ-NG - - FVH2 FAM3NY0049 PubMed: Weiner 2020 2 generation family with 2 affected offsprings M no Israel Indian jew - - - - 2 Mohammed A.M Derar
+?/. - c.95T>G r.(?) p.(Ile32Ser) Both (homozygous) ACMG likely pathogenic (recessive) g.84075668A>C - c.95T>G, p.Ile32Ser - SLC38A8_000001 ACMG (PP3, PS4 & PP1 PubMed: Weiner 2020 - rs587777253 Germline yes - - - - DNA SEQ-NG - - FVH2 FAM1NY0033 PubMed: Weiner 2020 2 generation family with 4 offsprings of whom 2 are affected. F no Israel Karait Jewish - - - - 2 Mohammed A.M Derar
+?/. - c.95T>G r.(?) p.(Ile32Ser) Both (homozygous) ACMG likely pathogenic (recessive) g.84075668A>C - c.95T>G, p.Ile32Ser - SLC38A8_000001 ACMG PP3, PS4 & PP1 PubMed: Weiner 2020 - rs587777253 Germline yes - - - - DNA SEQ-NG - - FVH2 FAM2NY0036 PubMed: Weiner 2020 2 generation family with one affected and four unaffected offsprings M no Israel Karait Jewish - - - - 1 Mohammed A.M Derar
+/. - c.101T>G r.(?) p.(Met34Arg) Both (homozygous) - pathogenic (recessive) g.84075662A>C - - - SLC38A8_000046 - PubMed: Poulter 2013 - - Germline - - - - - DNA SEQ - - FVH2 F5 PubMed: Poulter 2013 4-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - 1 Johan den Dunnen
+?/. - c.101T>G r.(?) p.(Met34Arg) Both (homozygous) ACMG likely pathogenic (recessive) g.84075662A>C - - - SLC38A8_000046 - PubMed: Kuht 2020 - - Germline - - - - - DNA SEQ-NG Cheek cells - FVH2 F7:II-3 PubMed: Kuht 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - 1 Johan den Dunnen
+?/. - c.101T>G r.(?) p.(Met34Arg) Both (homozygous) ACMG likely pathogenic (recessive) g.84075662A>C - c.101T>G:p.Met34Arg - SLC38A8_000046 ACMG PP3, PS4 & PP4 PubMed: Kuht 2020 - - Germline yes - - - - DNA SEQ-NG - - FVH2 F7:II-3 PubMed: Kuht 2020 2 generation family with 3 offsprings of whom 2 are unaffected and one is affected F yes Turkey - - - - - 1 Mohammed A.M Derar
+/. - c.160G>T r.(?) p.(Gly54*) Parent #2 ACMG pathogenic (recessive) g.84075603C>A - - - SLC38A8_000077 ACMG PVS1 & PS4 PubMed: Ehrenberg 2021 - rs777138837 Germline - - - - - DNA SEQ-NG - - FVH2 Pat8 PubMed: Ehrenberg 2021 no pedigree data available F - Israel French-Canadian;Puerto Rican - - - - 1 Mohammed A.M Derar
+/. 1i_5i c.(189+1_190-1)_(690+1_691-1)del r.? p.? Unknown ACMG pathogenic (recessive) g.(84056495_84063098)_(84070506_84075573)del g.(84022890_84029493)_(84036901_84041968)del del ex2-5 - SLC38A8_000081 ACMG PVS1, PM2 & PP4 PubMed: Campbell 2019 - - Germline ? - - - - DNA SEQ-NG-I Blood - FVH2 Proband 2 PubMed: Campbell 2019 no pedigree available for this proband F - United Kingdom (Great Britain) - - - - - 1 Mohammed A.M Derar
-/. - c.195G>A r.(?) p.(Ser65=) Unknown - benign g.84070500C>T g.84036895C>T SLC38A8(NM_001080442.3):c.195G>A (p.S65=) - SLC38A8_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.260C>T r.(?) p.(Thr87Ile) Unknown ACMG VUS g.84070435G>A - c.260C>T; p.(Thr87Ile) - SLC38A8_000078 ACMG PM2, PP3, PP4 & PP1 PubMed: Kruijt 2022 - - Germline yes - - - - DNA SEQ-NG - - FVH2 III-804 PubMed: Kruijt 2022 no pedigree data is available however the proband has an affected sibling ? ? Netherlands - - - - - 2 Mohammed A.M Derar
+/. - c.264C>G r.(?) p.(Tyr88*) Both (homozygous) ACMG pathogenic (recessive) g.84070431G>C - c.264C>G: p.(Tyr88*) - SLC38A8_000071 ACMG PVS1, PS4, PP1, PP4 & PM3 PubMed: Schiff 2021 - rs761388176 Germline yes - - - - DNA SEQ-NG - - FVH2 1-1 PubMed: Schiff 2021 2 generation family with one affected and two unaffected offsprings M yes Bangladesh - - - - - 1 Mohammed A.M Derar
+/. - c.264C>G r.(?) p.(Tyr88*) Both (homozygous) ACMG pathogenic (recessive) g.84070431G>C - c.264C>G: p.(Tyr88*) - SLC38A8_000071 ACMG PVS1, PS4, PP1, PP4 & PM3 PubMed: Schiff 2021 - rs761388176 Germline yes - - - - DNA SEQ-NG - - FVH2 2-2 PubMed: Schiff 2021 2 generation family with 2 affected offsprings and 3 unaffected. M yes India - - - - - 2 Mohammed A.M Derar
+/. - c.264C>G r.(?) p.(Tyr88*) Both (homozygous) ACMG pathogenic (recessive) g.84070431G>C - - - SLC38A8_000071 ACMG PVS1, PS4, PP1, PP4 & PM3 PubMed: Schiff 2021 - rs761388176 Germline yes - - - - DNA SEQ-NG - - FVH2 3-1 PubMed: Schiff 2021 no pedigree data available F - Pakistan - - - - - 1 Mohammed A.M Derar
+?/. - c.269G>T r.(?) p.(Gly90Val) Parent #2 ACMG likely pathogenic (recessive) g.84070426C>A - - - SLC38A8_000075 ACMG PS4, PP3 & PM3 PubMed: Ehrenberg 2021 - rs768657069 Germline yes - - - - DNA SEQ-NG - - FVH2 Pat14 PubMed: Ehrenberg 2021 no pedigree data available however grandfather is also affected. M - Georgia Jewish-Ashkenazi - - - - 2 Mohammed A.M Derar
+?/. - c.388+5G>A r.(del-exon) p.? Both (homozygous) - likely pathogenic g.84070302C>T g.84036697C>T - - SLC38A8_000037 effect on splicing predicted from mini-gene splicing assay PubMed: Soens 2017 - - Germline - - - - - DNA SEQ - - retinal disease 3719 PubMed: Soens 2017 possible duplicate - - - - - - - - 1 LOVD
+?/. - c.388+5G>A r.spl? p.? Parent #1 ACMG likely pathogenic (recessive) g.84070302C>T - - - SLC38A8_000037 ACMG PS4, PP3 & PM3 PubMed: Ehrenberg 2021 - rs760391436 Germline - - - - - DNA SEQ-NG - - FVH2 Pat8 PubMed: Ehrenberg 2021 no pedigree data available F - Israel French-Canadian;Puerto Rican - - - - 1 Mohammed A.M Derar
-/. - c.388+21C>T r.(=) p.(=) Unknown - benign g.84070286G>A g.84036681G>A SLC38A8(NM_001080442.3):c.388+21C>T - SLC38A8_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.416C>T r.(?) p.(Pro139Leu) Unknown - likely benign g.84067047G>A g.84033442G>A SLC38A8(NM_001080442.3):c.416C>T (p.P139L) - SLC38A8_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.431C>T r.(?) p.(Pro144Leu) Unknown - VUS g.84067032G>A g.84033427G>A SLC38A8(NM_001080442.2):c.431C>T (p.P144L) - SLC38A8_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.435G>A r.(?) p.(Trp145*) Parent #2 ACMG pathogenic (recessive) g.84067028C>T - - - SLC38A8_000070 ACMG PM2, PVS1, PP1 & PP4 PubMed: Schiff 2021 - - Germline yes - - - - DNA SEQ-NG - - FVH2 5-1 PubMed: Schiff 2021 2 generation family with two affected offsprings F no United Kingdom (Great Britain) - - - - - 2 Mohammed A.M Derar
-?/. - c.439G>T r.(?) p.(Ala147Ser) Unknown - likely benign g.84067024C>A g.84033419C>A SLC38A8(NM_001080442.2):c.439G>T (p.A147S) - SLC38A8_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.440C>T r.(?) p.(Ala147Val) Unknown - likely benign g.84067023G>A g.84033418G>A SLC38A8(NM_001080442.3):c.440C>T (p.A147V) - SLC38A8_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.448C>T r.(?) p.(Arg150Cys) Unknown - likely benign g.84067015G>A g.84033410G>A SLC38A8(NM_001080442.2):c.448C>T (p.R150C) - SLC38A8_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.490_491del r.(?) p.(Leu164Valfs*41) Unknown ACMG pathogenic g.84066972_84066973del - c.490_491delCT - SLC38A8_000035 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.490_491del r.(?) p.(Leu164Valfs*41) Paternal (confirmed) ACMG pathogenic (recessive) g.84066972_84066973del g.84033367_84033368del c.490_491delCT : p.L164Vfs*41 - SLC38A8_000069 ACMG PVS1, PP4 & PM2 PubMed: Weiner 2020 - - Germline yes - - - - DNA SEQ-NG - - FVH2 Fam5RP0057 PubMed: Weiner 2020 The only offspring in a 2 generation family, parents asymptomatic F no Israel Jewish-India - - - - 1 Mohammed A.M Derar
-/. - c.501G>A r.(?) p.(Pro167=) Unknown - benign g.84066962C>T g.84033357C>T SLC38A8(NM_001080442.3):c.501G>A (p.P167=) - SLC38A8_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.509T>A r.(?) p.(Ile170Asn) Unknown - VUS g.84066954A>T - - - SLC38A8_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.510C>G r.(?) p.(Ile170Met) Unknown - VUS g.84066953G>C - - - SLC38A8_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.527C>G r.(?) p.(Thr176Arg) Maternal (confirmed) ACMG pathogenic (recessive) g.84066936G>C - - - SLC38A8_000068 ACMG PP3, PS4 & PM3 PubMed: Lasseaux 2018 - rs780336355 Germline yes - - - - DNA SEQ-NG - - FVH2 SLC38A8-P2 PubMed: Lasseaux 2018 no pedigree data available ? - - - - - - - 1 Mohammed A.M Derar
?/. - c.530+3A>G r.spl? p.? Unknown - VUS g.84066930T>C - - - SLC38A8_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.534C>G r.(?) p.(Ile178Met) Unknown ACMG likely pathogenic (recessive) g.84065570G>C g.84031965G>C - - SLC38A8_000067 ACMG: PP3, PP4, PS4 & PM3. PubMed: Campbell 2019 - rs764152099 Germline - - - - - DNA SEQ-NG-I Blood - FVH2 Proband 2 PubMed: Campbell 2019 no pedigree available for this proband F - United Kingdom (Great Britain) - - - - - 1 Mohammed A.M Derar
+/. - c.558C>A r.(?) p.(Tyr186*) Maternal (confirmed) ACMG pathogenic (recessive) g.84065546G>T - c.558C > A:p.(Tyr186*) - SLC38A8_000057 ACMG PVS1, PM2, PP4 & PM3 PubMed: Kuht 2020, PubMed: Moon 2021 - - Germline yes - - - - DNA SEQ-NG Cheek cells - FVH2 F2:II-1;Pat80 PubMed: Kuht 2020, PubMed: Moon 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Korea - - - - - 1 Mohammed A.M Derar
-?/. - c.574A>C r.(?) p.(Thr192Pro) Unknown - likely benign g.84065530T>G g.84031925T>G SLC38A8(NM_001080442.2):c.574A>C (p.T192P), SLC38A8(NM_001080442.3):c.574A>C (p.T192P) - SLC38A8_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.574A>C r.(?) p.(Thr192Pro) Unknown - VUS g.84065530T>G - SLC38A8(NM_001080442.2):c.574A>C (p.T192P), SLC38A8(NM_001080442.3):c.574A>C (p.T192P) - SLC38A8_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.598C>T r.(?) p.(Gln200*) Paternal (confirmed) - pathogenic (recessive) g.84065506G>A - - - SLC38A8_000048 - PubMed: Poulter 2013 - - Germline yes - - - - DNA SEQ - - FVH2 F7 PubMed: Poulter 2013 2-generation family, 2 affected sisters F - - Europe-N - - - - 2 Johan den Dunnen
+/. - c.598C>T r.(?) p.(Gln200*) Both (homozygous) ACMG pathogenic (recessive) g.84065506G>A - c.598C>T; p.(Gln200*) - SLC38A8_000048 ACMG PVS1, PS4, PP4 PubMed: Kruijt 2022 - - Germline yes - - - - DNA SEQ-NG - - FVH2 V-808 PubMed: Kruijt 2022 No pedigree data is available ? - Netherlands - - - - - 1 Mohammed A.M Derar
-/. - c.612T>G r.(?) p.(Arg204=) Unknown - benign g.84065492A>C g.84031887A>C SLC38A8(NM_001080442.3):c.612T>G (p.R204=) - SLC38A8_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.628C>G r.(?) p.(Leu210Val) Unknown - benign g.84065476G>C g.84031871G>C SLC38A8(NM_001080442.2):c.628C>G (p.L210V), SLC38A8(NM_001080442.3):c.628C>G (p.L210V) - SLC38A8_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.628C>G r.(?) p.(Leu210Val) Unknown - likely benign g.84065476G>C g.84031871G>C SLC38A8(NM_001080442.2):c.628C>G (p.L210V), SLC38A8(NM_001080442.3):c.628C>G (p.L210V) - SLC38A8_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.632+1G>A r.spl p.? Parent #1 ACMG pathogenic (recessive) g.84065471C>T - - - SLC38A8_000066 ACMG PM2, PVS1, PP1, PP4 & PM3 PubMed: Schiff 2021 - - Germline yes - - - - DNA SEQ-NG - - FVH2 5-1 PubMed: Schiff 2021 2 generation family with two affected offsprings F no United Kingdom (Great Britain) - - - - - 2 Mohammed A.M Derar
+?/. - c.632+2T>G r.spl p.? Both (homozygous) ACMG likely pathogenic (recessive) g.84065470A>C g.84031865A>C - - SLC38A8_000052 ACMG PS4, PP3 PubMed: Kuht 2020 - rs1161159416 Germline yes - 1 - - DNA SEQ-NG Cheek cells - FVH2 F8:II-1 PubMed: Kuht 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United Kingdom (Great Britain) - - - - - 1 Mohammed A.M Derar
+?/. - c.644G>T r.(?) p.(Trp215Leu) Unknown ACMG VUS g.84063145C>A - - - SLC38A8_000040 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - retinal disease IR_GH_0162 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
?/. - c.644G>T r.(?) p.(Trp215Leu) Parent #2 ACMG VUS g.84063145C>A - - - SLC38A8_000040 - PubMed: Kuht 2020 - - Germline - - - - - DNA SEQ-NG Cheek cells - FVH2 F5:II-1 PubMed: Kuht 2020 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F no Korea - - - - - 2 Johan den Dunnen
?/. - c.644G>T r.(?) p.(Trp215Leu) Parent #2 ACMG VUS g.84063145C>A - - - SLC38A8_000040 - PubMed: Kuht 2020 - - Germline - - - - - DNA SEQ-NG Cheek cells - FVH2 F5:II-2 PubMed: Kuht 2020 brother M no Korea - - - - - 1 Johan den Dunnen
+?/. - c.676T>C r.(?) p.(Cys226Arg) Parent #2 ACMG VUS g.84063113A>G - - - SLC38A8_000065 ACMG PM2, PP3 & PM3 PubMed: Ehrenberg 2021 - - Germline ? - - - - DNA SEQ-NG - - FVH2 Pat9 PubMed: Ehrenberg 2021 no pedigree data available F - Israel Jewish-Ashkenazi - - - - 1 Mohammed A.M Derar
+?/. - c.682G>A r.(?) p.(Gly228Arg) Unknown ACMG VUS g.84063107C>T - - - SLC38A8_000039 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - retinal disease IR_GH_0088 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.682G>A r.(?) p.(Gly228Arg) Unknown ACMG VUS g.84063107C>T - - - SLC38A8_000039 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - retinal disease IR_GH_0162 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
?/. - c.682G>A r.(?) p.(Gly228Arg) Parent #2 - VUS g.84063107C>T - - - SLC38A8_000039 - PubMed: Kuht 2020 - - Germline - - - - - DNA SEQ-NG Cheek cells - FVH2 F5:II-1 PubMed: Kuht 2020 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F no Korea - - - - - 2 Johan den Dunnen
?/. - c.682G>A r.(?) p.(Gly228Arg) Parent #2 - VUS g.84063107C>T - - - SLC38A8_000039 - PubMed: Kuht 2020 - - Germline - - - - - DNA SEQ-NG Cheek cells - FVH2 F5:II-2 PubMed: Kuht 2020 brother M no Korea - - - - - 1 Johan den Dunnen
+/. - c.692G>A r.(?) p.(Cys231Tyr) Paternal (confirmed) ACMG likely pathogenic (recessive) g.84056493C>T - - - SLC38A8_000059 ACMG PS4, PP3, PP4 & PM3 PubMed: Kuht 2020, PubMed: Moon 2021 - rs776162300 Germline yes - - - - DNA SEQ-NG Cheek cells - FVH2 F1:II-1;Pat78 PubMed: Kuht 2020, PubMed: Moon 2021 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F - Korea - - - - - 2 Mohammed A.M Derar
+/. - c.692G>A r.(?) p.(Cys231Tyr) Paternal (confirmed) ACMG likely pathogenic (recessive) g.84056493C>T - - - SLC38A8_000059 ACMG PS4, PP3, PP4 & PM3 PubMed: Kuht 2020 - rs776162300 Germline yes - - - - DNA SEQ-NG Cheek cells - FVH2 F1:II-2 PubMed: Kuht 2020 brother M - Korea - - - - - 1 Mohammed A.M Derar
+?/. - c.695A>G r.(?) p.(His232Arg) Unknown ACGS VUS g.84056490T>C - - - SLC38A8_000038 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - retinal disease IR_GH_0088 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.695A>G r.(?) p.(His232Arg) Maternal (confirmed) ACMG VUS g.84056490T>C - - - SLC38A8_000038 - PubMed: Kuht 2020 - - Germline - - - - - DNA SEQ-NG Cheek cells - FVH2 F5:II-1 PubMed: Kuht 2020 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F no Korea - - - - - 2 Johan den Dunnen
+?/. - c.695A>G r.(?) p.(His232Arg) Maternal (confirmed) ACMG VUS g.84056490T>C - - - SLC38A8_000038 - PubMed: Kuht 2020 - - Germline - - - - - DNA SEQ-NG Cheek cells - FVH2 F5:II-2 PubMed: Kuht 2020 brother M no Korea - - - - - 1 Johan den Dunnen
+/. - c.697G>A r.(?) p.(Glu233Lys) Both (homozygous) - pathogenic (recessive) g.84056488C>T - - - SLC38A8_000047 - PubMed: Poulter 2013 - - Germline yes - - - - DNA SEQ - - FVH2 F6 PubMed: Poulter 2013 5-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F;M yes India - - - - - 3 Johan den Dunnen
+?/. - c.697G>A r.(?) p.(Glu233Lys) Parent #1 ACMG pathogenic (recessive) g.84056488C>T - - - SLC38A8_000047 ACMG PP3, PS4 & PM3 PubMed: Lasseaux 2018 - rs372929441 Germline ? - - - - DNA SEQ-NG - - FVH2 SLC38A8-P3 PubMed: Lasseaux 2018 no pedigree data available ? - - white - - - - 1 Mohammed A.M Derar
+?/. - c.697G>A r.(?) p.(Glu233Lys) Both (homozygous) ACMG VUS g.84056488C>T - - - SLC38A8_000047 ACMG PP3 & PM2 PubMed: Ehrenberg 2021 - rs37299441 Germline ? - - - - DNA SEQ-NG - - FVH2 Pat12 PubMed: Ehrenberg 2021 no pedigree data available however has an affected brother M - Algeria;Iran;Turkey Jewish - - - - 2 Mohammed A.M Derar
+?/. - c.697G>A r.(?) p.(Glu233Lys) Both (homozygous) ACMG VUS g.84056488C>T - - - SLC38A8_000047 ACMG PP3 & PM2 PubMed: Ehrenberg 2021 - rs37299441 Germline ? - - - - DNA SEQ-NG - - FVH2 Pat11 PubMed: Ehrenberg 2021 brother M - Algeria;Iran;Turkey Jewish - - - - 1 Johan den Dunnen
+/. - c.697G>T r.(?) p.(Glu233*) Unknown - pathogenic g.84056488C>A - - - SLC38A8_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.698A>G r.(?) p.(Glu233Gly) Both (homozygous) ACMG likely pathogenic (recessive) g.84056487T>C - c.698A>G : p.Glu233Gly - SLC38A8_000064 ACMG PM2, PP3, PM3 & PP4 PubMed: Schiff 2021 - - Germline yes - - - - DNA SEQ-NG - - FVH2 4-1 PubMed: Schiff 2021 2 generation family with 3 offsprings of whom one is affected F yes Sri Lanka - - - - - 1 Mohammed A.M Derar
+/. - c.707T>A r.(?) p.(Val236Asp) Both (homozygous) - pathogenic (recessive) g.84056478A>T - - - SLC38A8_000044 - PubMed: Poulter 2013 - - Germline yes - - - - DNA SEQ - - FVH2 F1 PubMed: Poulter 2013 4-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 5 Johan den Dunnen
-?/. - c.728G>A r.(?) p.(Arg243His) Unknown - likely benign g.84056457C>T g.84022852C>T SLC38A8(NM_001080442.2):c.728G>A (p.R243H) - SLC38A8_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.743C>G r.(?) p.(Ser248Cys) Unknown - benign g.84056442G>C g.84022837G>C SLC38A8(NM_001080442.2):c.743C>G (p.S248C) - SLC38A8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.780C>T r.(?) p.(Ala260=) Unknown - benign g.84056405G>A g.84022800G>A SLC38A8(NM_001080442.2):c.780C>T (p.A260=), SLC38A8(NM_001080442.3):c.780C>T (p.A260=) - SLC38A8_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.780C>T r.(?) p.(Ala260=) Unknown - likely benign g.84056405G>A - SLC38A8(NM_001080442.2):c.780C>T (p.A260=), SLC38A8(NM_001080442.3):c.780C>T (p.A260=) - SLC38A8_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.800T>G r.(?) p.(Leu267Arg) Unknown ACMG VUS g.84056385A>C - c.800T>G; p.(Leu267Arg) - SLC38A8_000079 ACMG PM2, PP3, PP4 & PP1 PubMed: Kruijt 2022 - - Germline yes - - - - DNA SEQ-NG - - FVH2 III-804 PubMed: Kruijt 2022 no pedigree data is available however the proband has an affected sibling ? ? Netherlands - - - - - 2 Mohammed A.M Derar
+/. 6i_7i c.(805+1_806-1)_(953+1_954-1)del r.? p.? Parent #2 - pathogenic (recessive) g.(84050333_84050744)_(84050893_84056379)del g.(84016728_84017139)_(84017288_84022774)del del ex7 - SLC38A8_000073 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - FVH2 SLC38A8-P1 PubMed: Lasseaux 2018 no pedigree data is available ? - - white - - - - 1 Mohammed A.M Derar
+/. 6i_8i c.(805+1_806-1)_(1162+1_1163-1)del r.? p.? Parent #2 - pathogenic (recessive) g.(84046658_84050123)_(84050893_84056379)del g.(84013053_84016518)_(84017288_84022774)del del ex7-8 - SLC38A8_000074 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - FVH2 SLC38A8-P3 PubMed: Lasseaux 2018 no pedigree data available ? - - white - - - - 1 Mohammed A.M Derar
+/. 6i_8i c.(805+1_806-1)_(1162+1_1163-1)del r.? p.? Parent #2 - pathogenic (recessive) g.(84046658_84050123)_(84050893_84056379)del g.(84013053_84016518)_(84017288_84022774)del del ex7-8 - SLC38A8_000074 - - - - Germline - - - - - DNA SEQ-NG - - FVH2 6-1 PubMed: Schiff 2021 2 generation family with 3 offsprings in total (from 2 wives). Only one child is affected. F no United Kingdom (Great Britain) spanish and british ancestry - - - - 1 Mohammed A.M Derar
+/. - c.845_847delCTG r.(?) p.(Ala282del) Maternal (confirmed) - pathogenic (recessive) g.84050854_84050856del g.84017249_84017251del 845_847delCTG - SLC38A8_000049 - PubMed: Poulter 2013 - - Germline yes - - - - DNA SEQ - - FVH2 F7 PubMed: Poulter 2013 2-generation family, 2 affected sisters F - - Europe-N - - - - 2 Johan den Dunnen
+?/. - c.848A>C r.(?) p.(Asp283Ala) Both (homozygous) ACMG likely pathogenic (recessive) g.84050850T>G g.84017245T>G - - SLC38A8_000063 ACMG PS4, PP3 & PP1 PubMed: Toral 2017 - rs139373929 Germline yes - - - - DNA SEQ-NG-I - - FVH2 II:2 PubMed: Toral 2017 2 generation family, 3 offsprings, 2 affected/1 unaffected, unaffected heterozygous carrier parents F no (United States) Ashkenazi Jew - - - - 2 Mohammed A.M Derar
+?/. - c.848A>C r.(?) p.(Asp283Ala) Paternal (confirmed) ACMG pathogenic (recessive) g.84050850T>G - c.848A>C : p.Asp283Ala - SLC38A8_000063 ACMG PM5, PS4 & PM3 PubMed: Lasseaux 2018 - rs139373929 Germline yes - - - - DNA SEQ-NG - - FVH2 SLC38A8-P2 PubMed: Lasseaux 2018 no pedigree data available ? - - - - - - - 1 Mohammed A.M Derar
+?/. - c.848A>C r.(?) p.(Asp283Ala) Both (homozygous) ACMG likely pathogenic (recessive) g.84050850T>G - c.848A>C, p. Asp283Ala - SLC38A8_000063 ACMG PS4, PP3 & PP1 PubMed: Ehrenberg 2021 - rs139373929 Germline - - - - - DNA SEQ-NG - - FVH2 Pat1 PubMed: Ehrenberg 2021 no pedigree data available F - Israel Jewish-Ashkenazi - - - - 1 Mohammed A.M Derar
+?/. - c.848A>C r.(?) p.(Asp283Ala) Parent #1 ACMG pathogenic (recessive) g.84050850T>G - c.848A>C, p. Asp283Ala - SLC38A8_000063 ACMG PS4 & PS1 PubMed: Ehrenberg 2021 - rs139373929 Germline ? - - - - DNA SEQ-NG - - FVH2 Pat9 PubMed: Ehrenberg 2021 no pedigree data available F - Israel Jewish-Ashkenazi - - - - 1 Mohammed A.M Derar
+?/. - c.848A>C r.(?) p.(Asp283Ala) Parent #1 ACMG pathogenic g.84050850T>G - - - SLC38A8_000063 ACMG PS4 & PS1 PubMed: Ehrenberg 2021 - rs139373929 Germline - - - - - DNA SEQ-NG - - FVH2 Pat14 PubMed: Ehrenberg 2021 no pedigree data available however grandfather is also affected. M - Georgia Jewish-Ashkenazi - - - - 2 Mohammed A.M Derar
+?/. - c.848A>C r.(?) p.(Asp283Ala) Parent #1 ACMG pathogenic (recessive) g.84050850T>G - - - SLC38A8_000063 ACMG PS4, PS1 & PM3 - - rs139373929 Germline - - - - - DNA SEQ-NG - - FVH2 Pat2 PubMed: Ehrenberg 2021 no pedigree data available M - Israel Jewish-Ashkenazi - - - - 1 Mohammed A.M Derar
+?/. - c.848A>C r.(?) p.(Asp283Ala) Both (homozygous) ACMG likely pathogenic (recessive) g.84050850T>G - c.848A>C, p. Asp283Ala - SLC38A8_000063 ACMG PS4, PP3 & PP1 PubMed: Ehrenberg 2021 - rs139373929 Germline ? - - - - DNA SEQ-NG - - FVH2 Pat5 PubMed: Ehrenberg 2021 No pedigree data avialble. F - Israel Ashkenazi jew - - - - 1 Mohammed A.M Derar
+?/. - c.848A>C r.(?) p.(Asp283Ala) Both (homozygous) ACMG likely pathogenic (recessive) g.84050850T>G - c.848A>C, p. Asp283Ala - SLC38A8_000063 ACMG PS4, PP3 & PP1 PubMed: Ehrenberg 2021 - rs139373929 Germline ? - - - - DNA SEQ-NG - - FVH2 Pat6 PubMed: Ehrenberg 2021 No pedigree data available however the proband has an affected sibling F - Israel Ashkenazi jew - - - - 2 Mohammed A.M Derar
+?/. - c.848A>C r.(?) p.(Asp283Ala) Both (homozygous) ACMG likely pathogenic (recessive) g.84050850T>G - c.848A>C, p. Asp283Ala - SLC38A8_000063 ACMG PS4, PP3 & PP1 PubMed: Ehrenberg 2021 - rs139373929 Germline - - - - - DNA SEQ-NG - - FVH2 Pat10 PubMed: Ehrenberg 2021 No pedigree data available F - Israel Ashkenazi jew - - - - 1 Mohammed A.M Derar
+?/. - c.848A>C r.(?) p.(Asp283Ala) Both (homozygous) ACMG likely pathogenic (recessive) g.84050850T>G - c.848A>C, p.(Asp283Ala) - SLC38A8_000063 ACMG PS4, PP3 & PP1 PubMed: Schiff 2021 - rs139373929 Germline ? - - - - DNA SEQ-NG - - FVH2 7-1 PubMed: Schiff 2021 no pedigree data available F - - Ashkenazi jew - - - - 1 Mohammed A.M Derar
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