Full data view for gene SLC3A1

Information The variants shown are described using the NM_000341.3 transcript reference sequence.

138 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     
+/. 8i_10_ c.1501-501_*183{0} r.? p.? Maternal (confirmed) - pathogenic (recessive) g.44540473_44564344del g.44313334_44337205del - - SLC3A1_000089 - PubMed: Jaeken 2006 - - Germline - - - - - DNA PCR, SEQ - - CSNU Fam9PatI PubMed: Jaeken 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France - - - - - 1 Johan den Dunnen
+/. 9i_10_ c.1617+3011_*183{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.44544101_44582220del g.44316961_44355079del - - SLC3A1_000090 - PubMed: Jaeken 2006 - - Germline - - - - - DNA PCR, SEQ - - CSNU Fam1PatI PubMed: Jaeken 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Belgium - - - - - 1 Johan den Dunnen
+/. 9i_10_ c.1617+3011_*183{0} r.? p.? Paternal (confirmed) - pathogenic (recessive) g.44544101_44582220del g.44316961_44355079del - - SLC3A1_000090 - PubMed: Jaeken 2006 - - Germline - - - - - DNA PCR, SEQ - - CSNU Fam7PatI PubMed: Jaeken 2006 2-generation family, 2 affected, unaffected heterozygous carrier parents M - Belgium - - - - - 2 Johan den Dunnen
+/. 9i_10_ c.1617+3011_*183{0} r.? p.? Parent #1 - pathogenic (recessive) g.44544101_44582220del g.44316961_44355079del - - SLC3A1_000090 - PubMed: Jaeken 2006 - - Germline - - - - - DNA PCR, SEQ - - CSNU Fam6PatI PubMed: Jaeken 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Belgium - - - - - 1 Johan den Dunnen
+/. 9i_10_ c.1617+3011_*183{0} r.? p.? Paternal (confirmed) - pathogenic (recessive) g.44544101_44582220del g.44316961_44355079del - - SLC3A1_000090 - PubMed: Jaeken 2006 - - Germline - - - - - DNA PCR, SEQ - - CSNU Fam7PatII PubMed: Jaeken 2006 relative F - Belgium - - - - - 1 Johan den Dunnen
+/. 1i_10_ c.430+1886_*183{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.44504990_44580502del g.44277851_44353363del - - SLC3A1_000087 - PubMed: Jaeken 2006 - - Germline - - - - - DNA PCR, SEQ - - CSNU Fam2PatI PubMed: Jaeken 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Belgium - - - - - 1 Johan den Dunnen
+/. 1i_10_ c.430+1886_*183{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.44504990_44580502del g.44277851_44353363del - - SLC3A1_000087 - PubMed: Jaeken 2006 - - Germline - - - - - DNA PCR, SEQ - - CSNU Fam3PatI PubMed: Jaeken 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Belgium - - - - - 1 Johan den Dunnen
+/. 1i_10_ c.430+1886_*183{0} r.? p.? Maternal (confirmed) - pathogenic (recessive) g.44504990_44580502del g.44277851_44353363del - - SLC3A1_000087 - PubMed: Jaeken 2006 - - Germline - - - - - DNA PCR, SEQ - - CSNU Fam7PatI PubMed: Jaeken 2006 2-generation family, 2 affected, unaffected heterozygous carrier parents M - Belgium - - - - - 2 Johan den Dunnen
+/. 1i_10_ c.430+1886_*183{0} r.? p.? Parent #2 - pathogenic (recessive) g.44504990_44580502del g.44277851_44353363del - - SLC3A1_000087 - PubMed: Jaeken 2006 - - Germline - - - - - DNA PCR, SEQ - - CSNU Fam6PatI PubMed: Jaeken 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Belgium - - - - - 1 Johan den Dunnen
+/. 1i_10_ c.430+1886_*183{0} r.? p.? Maternal (confirmed) - pathogenic (recessive) g.44504990_44580502del g.44277851_44353363del - - SLC3A1_000087 - PubMed: Jaeken 2006 - - Germline - - - - - DNA PCR, SEQ - - CSNU Fam7PatII PubMed: Jaeken 2006 relative F - Belgium - - - - - 1 Johan den Dunnen
+/. 1i_10_ c.430+1886_*183{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.44504990_44580502del g.44277851_44353363del - - SLC3A1_000087 - PubMed: Jaeken 2006 - - Germline - - - - - DNA PCR, SEQ - - CSNU Fam4PatI PubMed: Jaeken 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Belgium - - - - - 1 Johan den Dunnen
+/. 1i_10_ c.430+1886_*183{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.44504990_44580502del g.44277851_44353363del - - SLC3A1_000087 - PubMed: Jaeken 2006 - - Germline - - - - - DNA PCR, SEQ - - CSNU Fam5PatI PubMed: Jaeken 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Belgium - - - - - 1 Johan den Dunnen
+/. 1i_10_ c.430+1886_*183{0} r.? p.? Paternal (confirmed) - pathogenic (recessive) g.44504990_44580502del g.44277851_44353363del - - SLC3A1_000087 - PubMed: Jaeken 2006 - - Germline - - - - - DNA PCR, SEQ - - CSNU Fam9PatI PubMed: Jaeken 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France - - - - - 1 Johan den Dunnen
+/. 4i_10_ c.891+5126_*183{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.44518422_44551801del g.44291283_44324662del - - SLC3A1_000088 - PubMed: Jaeken 2006 - - Germline - - - - - DNA PCR, SEQ - - CSNU Fam8PatI PubMed: Jaeken 2006 2-generation family, 2 affected, unaffected heterozygous carrier parents M - France - - - - - 2 Johan den Dunnen
+/. 4i_10_ c.891+5126_*183{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.44518422_44551801del g.44291283_44324662del - - SLC3A1_000088 - PubMed: Jaeken 2006 - - Germline - - - - - DNA PCR, SEQ - - CSNU Fam8PatII PubMed: Jaeken 2006 relative F - France - - - - - 1 Johan den Dunnen
?/. - c.-16902267_*17533403dup r.0? p.0? Unknown - VUS g.27600408_62081181dup - chr2:27600408–62081181 - FSHR_000025 - PubMed: Ellingsford 2018 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8A>G r.(?) p.(Glu3Gly) Unknown - likely benign g.44502682A>G - SLC3A1(NM_000341.3):c.8A>G (p.E3G) - SLC3A1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.37A>T r.(?) p.(Met13Leu) Unknown - VUS g.44502711A>T - SLC3A1(NM_000341.4):c.37A>T (p.(Met13Leu)) - SLC3A1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.114A>C r.(?) p.(Gly38=) Unknown - benign g.44502788A>C g.44275649A>C SLC3A1(NM_000341.4):c.114A>C (p.G38=) - SLC3A1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.114A>C r.(?) p.(Gly38=) Unknown - benign g.44502788A>C g.44275649A>C SLC3A1(NM_000341.4):c.114A>C (p.G38=) - SLC3A1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.148G>A r.(?) p.(Gly50Ser) Unknown - likely benign g.44502822G>A g.44275683G>A SLC3A1(NM_000341.3):c.148G>A (p.G50S) - SLC3A1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.231T>A r.(?) p.(Ser77=) Unknown - likely benign g.44502905T>A g.44275766T>A SLC3A1(NM_000341.3):c.231T>A (p.S77=), SLC3A1(NM_000341.4):c.231T>A (p.S77=) - SLC3A1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.231T>A r.(?) p.(Ser77=) Unknown - likely benign g.44502905T>A g.44275766T>A SLC3A1(NM_000341.3):c.231T>A (p.S77=), SLC3A1(NM_000341.4):c.231T>A (p.S77=) - SLC3A1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.231T>A r.(?) p.(Ser77=) Unknown - likely benign g.44502905T>A - SLC3A1(NM_000341.3):c.231T>A (p.S77=), SLC3A1(NM_000341.4):c.231T>A (p.S77=) - SLC3A1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.241C>T r.(?) p.(Arg81Cys) Unknown - likely benign g.44502915C>T g.44275776C>T SLC3A1(NM_000341.3):c.241C>T (p.R81C), SLC3A1(NM_000341.4):c.241C>T (p.(Arg81Cys)) - SLC3A1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.241C>T r.(?) p.(Arg81Cys) Unknown - VUS g.44502915C>T - SLC3A1(NM_000341.3):c.241C>T (p.R81C), SLC3A1(NM_000341.4):c.241C>T (p.(Arg81Cys)) - SLC3A1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.248G>C r.(?) p.(Arg83Pro) Unknown - likely pathogenic g.44502922G>C - - - SLC3A1_000103 - - - rs375663080 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.300C>T r.(?) p.(Leu100=) Unknown - likely benign g.44502974C>T - SLC3A1(NM_000341.4):c.300C>T (p.L100=) - SLC3A1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.304G>C r.(?) p.(Ala102Pro) Unknown - VUS g.44502978G>C g.44275839G>C SLC3A1(NM_000341.3):c.304G>C (p.A102P) - SLC3A1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.322A>G r.(?) p.(Ile108Val) Unknown - VUS g.44502996A>G - SLC3A1(NM_000341.4):c.322A>G (p.(Ile108Val)) - SLC3A1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.380A>C r.(?) p.(Tyr127Ser) Unknown - VUS g.44503054A>C g.44275915A>C - - SLC3A1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.386G>C r.(?) p.(Arg129Thr) Unknown - VUS g.44503060G>C - - - SLC3A1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.491C>T r.(?) p.(Ser164Leu) Unknown - VUS g.44507915C>T - - - SLC3A1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.503C>T r.(?) p.(Ser168Leu) Unknown - likely pathogenic g.44507927C>T g.44280788C>T SLC3A1(NM_000341.4):c.503C>T (p.S168L) - SLC3A1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.503C>T r.(?) p.(Ser168Leu) Unknown - likely pathogenic g.44507927C>T - SLC3A1(NM_000341.4):c.503C>T (p.S168L) - SLC3A1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.508C>G r.(?) p.(Leu170Val) Unknown - likely benign g.44507932C>G - SLC3A1(NM_000341.3):c.508C>G (p.L170V) - SLC3A1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.566C>T r.(?) p.(Thr189Met) Unknown - VUS g.44507990C>T g.44280851C>T SLC3A1(NM_000341.3):c.566C>T (p.T189M, p.(Thr189Met)), SLC3A1(NM_000341.4):c.566C>T (p.T189M) - SLC3A1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.566C>T r.(?) p.(Thr189Met) Unknown - likely benign g.44507990C>T g.44280851C>T SLC3A1(NM_000341.3):c.566C>T (p.T189M, p.(Thr189Met)), SLC3A1(NM_000341.4):c.566C>T (p.T189M) - SLC3A1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.566C>T r.(?) p.(Thr189Met) Unknown - VUS g.44507990C>T g.44280851C>T SLC3A1(NM_000341.3):c.566C>T (p.T189M, p.(Thr189Met)), SLC3A1(NM_000341.4):c.566C>T (p.T189M) - SLC3A1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.566C>T r.(?) p.(Thr189Met) Unknown - likely benign g.44507990C>T - SLC3A1(NM_000341.3):c.566C>T (p.T189M, p.(Thr189Met)), SLC3A1(NM_000341.4):c.566C>T (p.T189M) - SLC3A1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.568A>G r.(?) p.(Met190Val) Unknown - VUS g.44507992A>G - SLC3A1(NM_000341.4):c.568A>G (p.(Met190Val), p.M190V) - SLC3A1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.568A>G r.(?) p.(Met190Val) Unknown - VUS g.44507992A>G - SLC3A1(NM_000341.4):c.568A>G (p.(Met190Val), p.M190V) - SLC3A1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.611G>T r.(?) p.(Gly204Val) Unknown - likely pathogenic g.44508526G>T - SLC3A1(NM_000341.4):c.611G>T (p.(Gly204Val)) - SLC3A1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.647C>T r.(?) p.(Thr216Met) Unknown - pathogenic g.44508562C>T g.44281423C>T SLC3A1(NM_000341.3):c.647C>T (p.T216M), SLC3A1(NM_000341.4):c.647C>T (p.T216M) - SLC3A1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.647C>T r.(?) p.(Thr216Met) Unknown - VUS g.44508562C>T - SLC3A1(NM_000341.3):c.647C>T (p.T216M), SLC3A1(NM_000341.4):c.647C>T (p.T216M) - SLC3A1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.647C>T r.(?) p.(Thr216Met) Unknown - pathogenic g.44508562C>T - SLC3A1(NM_000341.3):c.647C>T (p.T216M), SLC3A1(NM_000341.4):c.647C>T (p.T216M) - SLC3A1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.680G>A r.(?) p.(Arg227Gln) Unknown - VUS g.44508595G>A - SLC3A1(NM_000341.4):c.680G>A (p.(Arg227Gln), p.R227Q) - SLC3A1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.680G>A r.(?) p.(Arg227Gln) Unknown - VUS g.44508595G>A - SLC3A1(NM_000341.4):c.680G>A (p.(Arg227Gln), p.R227Q) - SLC3A1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.769A>G r.(?) p.(Ser257Gly) Unknown - VUS g.44513174A>G g.44286035A>G SLC3A1(NM_000341.3):c.769A>G (p.S257G) - SLC3A1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.797T>C r.(?) p.(Phe266Ser) Unknown - VUS g.44513202T>C g.44286063T>C - - SLC3A1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.797T>C r.(?) p.(Phe266Ser) Unknown - VUS g.44513202T>C g.44286063T>C - - SLC3A1_000001 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.797T>C r.(?) p.(Phe266Ser) Unknown - VUS g.44513202T>C g.44286063T>C SLC3A1(NM_000341.3):c.797T>C (p.F266S) - SLC3A1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.808C>T r.(?) p.(Arg270Ter) Unknown - pathogenic g.44513213C>T g.44286074C>T SLC3A1(NM_000341.3):c.808C>T (p.R270*) - SLC3A1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.808C>T r.(?) p.(Arg270Ter) Unknown - pathogenic g.44513213C>T - SLC3A1(NM_000341.3):c.808C>T (p.R270*) - SLC3A1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.833T>C r.(?) p.(Phe278Ser) Unknown - VUS g.44513238T>C - SLC3A1(NM_000341.4):c.833T>C (p.(Phe278Ser)) - SLC3A1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.833T>G r.(?) p.(Phe278Cys) Unknown - likely pathogenic g.44513238T>G g.44286099T>G - - SLC3A1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.836T>C r.(?) p.(Met279Thr) Unknown - likely benign g.44513241T>C - SLC3A1(NM_000341.4):c.836T>C (p.M279T) - SLC3A1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.844C>T r.(?) p.(Gln282Ter) Unknown - pathogenic g.44513249C>T g.44286110C>T SLC3A1(NM_000341.3):c.844C>T (p.Q282*) - SLC3A1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.(891+95_891+110)_(1617+166_1618-1489)dup r.? p.? Unknown - likely pathogenic (recessive) g.(44513391_44513406)_(44541256_44545849)dup - - - SLC3A1_000068 - PubMed: Chen 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES clinical NDD PatN6 PubMed: Chen 2022 - F - United States African-American - - - - 1 Johan den Dunnen
?/. - c.891+1018C>T r.(?) p.(?) Unknown - VUS g.44514314C>T - - - SLC3A1_000092 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.892-6C>G r.(=) p.(=) Unknown - benign g.44527104C>G g.44299965C>G SLC3A1(NM_000341.3):c.892-6C>G, SLC3A1(NM_000341.4):c.892-6C>G - SLC3A1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.892-6C>G r.(=) p.(=) Unknown - benign g.44527104C>G - SLC3A1(NM_000341.3):c.892-6C>G, SLC3A1(NM_000341.4):c.892-6C>G - SLC3A1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.902G>A r.(?) p.(Arg301Gln) Unknown - likely benign g.44527120G>A - SLC3A1(NM_000341.3):c.902G>A (p.R301Q) - SLC3A1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.922G>T r.(?) p.(Val308Phe) Unknown - VUS g.44527140G>T - SLC3A1(NM_000341.4):c.922G>T (p.V308F) - SLC3A1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.962A>C r.(?) p.(Glu321Ala) Unknown - VUS g.44527180A>C g.44300041A>C - - SLC3A1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1010C>T r.(?) p.(Pro337Leu) Unknown - VUS g.44527228C>T g.44300089C>T SLC3A1(NM_000341.3):c.1010C>T (p.P337L), SLC3A1(NM_000341.4):c.1010C>T (p.P337L) - SLC3A1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1010C>T r.(?) p.(Pro337Leu) Unknown - VUS g.44527228C>T - SLC3A1(NM_000341.3):c.1010C>T (p.P337L), SLC3A1(NM_000341.4):c.1010C>T (p.P337L) - SLC3A1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1012-23C>T r.(=) p.(=) Unknown - likely benign g.44528119C>T - SLC3A1(NM_000341.4):c.1012-23C>T - SLC3A1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1035G>A r.(?) p.(Glu345=) Unknown - likely benign g.44528165G>A - SLC3A1(NM_000341.4):c.1035G>A (p.E345=) - SLC3A1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1035G>A r.(?) p.(Glu345=) Unknown - likely benign g.44528165G>A - SLC3A1(NM_000341.4):c.1035G>A (p.E345=) - SLC3A1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1084C>T r.(?) p.(Arg362Cys) Unknown - likely pathogenic g.44528214C>T - SLC3A1(NM_000341.4):c.1084C>T (p.(Arg362Cys)) - SLC3A1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1085G>A r.(?) p.(Arg362His) Parent #1 - pathogenic g.44528215G>A g.44301076G>A - - SLC3A1_000046 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121912697 Germline - 5/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
+?/. - c.1094G>T r.(?) p.(Arg365Leu) Unknown - likely pathogenic g.44528224G>T g.44301085G>T - - SLC3A1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1136+3del r.spl? p.? Unknown - benign g.44528269del g.44301130del SLC3A1(NM_000341.4):c.1136+3delT - SLC3A1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1137-3T>C r.spl? p.? Unknown - likely benign g.44531279T>C - SLC3A1(NM_000341.4):c.1137-3T>C - SLC3A1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1139T>G r.(?) p.(Phe380Cys) Unknown - VUS g.44531284T>G g.44304145T>G SLC3A1(NM_000341.3):c.1139T>G (p.(Phe380Cys)) - SLC3A1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1157A>G r.(?) p.(Tyr386Cys) Unknown - VUS g.44531302A>G - SLC3A1(NM_000341.4):c.1157A>G (p.(Tyr386Cys)) - SLC3A1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1165_1166del r.(?) p.(Ser389Tyrfs*2) Unknown - pathogenic g.44531310_44531311del - - - SLC3A1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1204dup r.(?) p.(Ile402Asnfs*5) Unknown - likely pathogenic g.44531349dup - SLC3A1(NM_000341.4):c.1204dupA (p.I402Nfs*5) - SLC3A1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1268G>C r.(?) p.(Ser423Thr) Unknown - likely benign g.44531413G>C - SLC3A1(NM_000341.3):c.1268G>C (p.S423T), SLC3A1(NM_000341.4):c.1268G>C (p.S423T) - SLC3A1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1268G>C r.(?) p.(Ser423Thr) Unknown - likely benign g.44531413G>C - SLC3A1(NM_000341.3):c.1268G>C (p.S423T), SLC3A1(NM_000341.4):c.1268G>C (p.S423T) - SLC3A1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1269C>T r.(?) p.(Ser423=) Unknown - likely benign g.44531414C>T - SLC3A1(NM_000341.4):c.1269C>T (p.S423=) - SLC3A1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1332+2T>A r.(?) p.(?) Unknown - likely pathogenic g.44531479T>A g.44304340T>A SLC3A1(NM_000341.3):c.1332+2T>A - SLC3A1_000062 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 242 - - - DNA SEQ-NG-I blood - ? WHP142 PubMed: Sun 2018 - F - China - - - - - 1 LOVD
-/. - c.1332+7C>T r.(=) p.(=) Unknown - benign g.44531484C>T g.44304345C>T - - SLC3A1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1398C>T r.(?) p.(Asn466=) Unknown - likely benign g.44539790C>T - SLC3A1(NM_000341.3):c.1398C>T (p.N466=), SLC3A1(NM_000341.4):c.1398C>T (p.N466=) - SLC3A1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1398C>T r.(?) p.(Asn466=) Unknown - benign g.44539790C>T - SLC3A1(NM_000341.3):c.1398C>T (p.N466=), SLC3A1(NM_000341.4):c.1398C>T (p.N466=) - SLC3A1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1400T>A r.(?) p.(Met467Lys) Unknown - pathogenic g.44539792T>A g.44312653T>A SLC3A1(NM_000341.4):c.1400T>A (p.M467K) - SLC3A1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1400T>A r.(?) p.(Met467Lys) Both (homozygous) - pathogenic (recessive) g.44539792T>A g.44312653T>A - - SLC3A1_000047 - - - - Germline - - - - - DNA SEQ - - CSNU 003 - - M yes - - - - - - 1 Malak Alghamdi
+?/. - c.1400T>A r.(?) p.(Met467Lys) Both (homozygous) - pathogenic (recessive) g.44539792T>A g.44312653T>A - - SLC3A1_000047 - - - - Germline - - - - - DNA SEQ - - CSNU 020 - - M yes - - - - - - 1 Malak Alghamdi
+/. - c.1400T>A r.(?) p.(Met467Lys) Unknown - pathogenic g.44539792T>A - SLC3A1(NM_000341.4):c.1400T>A (p.M467K) - SLC3A1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1400T>C r.(?) p.(Met467Thr) Unknown - pathogenic g.44539792T>C g.44312653T>C SLC3A1(NM_000341.3):c.1400T>C (p.M467T), SLC3A1(NM_000341.4):c.1400T>C (p.(Met467Thr), p.M467T) - SLC3A1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1400T>C r.(?) p.(Met467Thr) Unknown - pathogenic g.44539792T>C - SLC3A1(NM_000341.3):c.1400T>C (p.M467T), SLC3A1(NM_000341.4):c.1400T>C (p.(Met467Thr), p.M467T) - SLC3A1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1400T>C r.(?) p.(Met467Thr) Unknown - pathogenic g.44539792T>C - SLC3A1(NM_000341.3):c.1400T>C (p.M467T), SLC3A1(NM_000341.4):c.1400T>C (p.(Met467Thr), p.M467T) - SLC3A1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1490G>C r.(?) p.(Ser497Thr) Unknown - likely benign g.44539882G>C - SLC3A1(NM_000341.3):c.1490G>C (p.(Ser497Thr)) - SLC3A1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1523C>G r.(?) p.(Pro508Arg) Unknown - pathogenic g.44540996C>G g.44313857C>G - - SLC3A1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1572C>T r.(?) p.(Asn524=) Unknown - benign g.44541045C>T g.44313906C>T SLC3A1(NM_000341.3):c.1572C>T (p.N524=) - SLC3A1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1577G>A r.(?) p.(Trp526Ter) Unknown - pathogenic g.44541050G>A g.44313911G>A - - SLC3A1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1595A>G r.(?) p.(Asp532Gly) Unknown - VUS g.44541068A>G - SLC3A1(NM_000341.4):c.1595A>G (p.(Asp532Gly)) - SLC3A1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1618-5A>T r.spl? p.? Unknown - likely benign g.44547333A>T g.44320194A>T SLC3A1(NM_000341.4):c.1618-5A>T - SLC3A1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1640C>T r.(?) p.(Ser547Leu) Unknown - likely pathogenic g.44547360C>T g.44320221C>T - - SLC3A1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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