All variants in the SLC7A14 gene

Information The variants shown are described using the NM_020949.2 transcript reference sequence.

103 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. - c.29C>G r.(?) p.(Pro10Arg) - VUS g.170244697G>C - SLC7A14(NM_020949.2):c.29C>G (p.P10R) - SLC7A14_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.98A>T r.(?) p.(Glu33Val) - VUS g.170244628T>A - SLC7A14(NM_020949.3):c.98A>T (p.E33V) - SLC7A14_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.128C>T r.(?) p.(Thr43Met) - VUS g.170244598G>A g.170526809G>A SLC7A14(NM_020949.3):c.128C>T (p.T43M) - SLC7A14_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 2 c.249A>G r.(=) p.(=) - likely benign g.170244477T>C - c.249A>G - SLC7A14_000063 - PubMed: Sugahara 2017 - - Germline - - - - - LOVD
-?/. 2 c.258T>G r.(=) p.(=) - likely benign g.170244468A>C - c.258T>G - SLC7A14_000062 - PubMed: Sugahara 2017 - - Germline - - - - - LOVD
-?/. - c.304+5G>A r.spl? p.? - likely benign g.170244417C>T g.170526628C>T SLC7A14(NM_020949.3):c.304+5G>A - SLC7A14_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.304+5G>A r.spl? p.? - VUS g.170244417C>T g.170526628C>T SLC7A14(NM_020949.3):c.304+5G>A - SLC7A14_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 3 c.336C>A r.(=) p.(=) - likely benign g.170219103G>T - c.336C>A - SLC7A14_000061 - PubMed: Sugahara 2017 - - Germline - - - - - LOVD
+?/. - c.395C>T r.(?) p.(Ala132Val) - likely pathogenic (recessive) g.170219044G>A g.170501255G>A - - SLC7A14_000049 - PubMed: Jin 2014 - - Germline - - - - - LOVD
?/. - c.443C>T r.(?) p.(Ala148Val) - VUS g.170218996G>A g.170501207G>A SLC7A14(NM_020949.3):c.443C>T (p.A148V) - SLC7A14_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.489C>A r.(?) p.(Asn163Lys) - VUS g.170218950G>T g.170501161G>T SLC7A14(NM_020949.3):c.489C>A (p.N163K) - SLC7A14_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.520G>A r.(?) p.(Val174Met) - VUS g.170218919C>T g.170501130C>T - - SLC7A14_000030 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs147696235 Germline - 2/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. - c.541+5G>A r.spl? p.? - VUS g.170218893C>T g.170501104C>T SLC7A14(NM_020949.3):c.541+5G>A - SLC7A14_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.542-7T>C r.(=) p.(=) - likely benign g.170216680A>G - SLC7A14(NM_020949.3):c.542-7T>C - SLC7A14_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 4 c.582G>A r.(=) p.(=) - likely benign g.170216633C>T - c.582G>A - SLC7A14_000060 - PubMed: Sugahara 2017 - - Germline - - - - - LOVD
?/. - c.586G>A r.(?) p.(Ala196Thr) - VUS g.170216629C>T g.170498840C>T - - SLC7A14_000029 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs761119299 Germline - 4/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. - c.632T>C r.(?) p.(Ile211Thr) - likely benign g.170216583A>G - SLC7A14(NM_020949.2):c.632T>C (p.I211T) - SLC7A14_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 4 c.636C>T r.(=) p.(=) - likely benign g.170216579G>A - c.636C>T - SLC7A14_000059 - PubMed: Sugahara 2017 - - Germline - - - - - LOVD
-?/. - c.639C>A r.(?) p.(Phe213Leu) - likely benign g.170216576G>T g.170498787G>T SLC7A14(NM_020949.2):c.639C>A (p.F213L) - SLC7A14_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.691G>A r.(?) p.(Ala231Thr) - VUS g.170216524C>T g.170498735C>T SLC7A14(NM_020949.2):c.691G>A (p.A231T) - SLC7A14_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.710A>T r.(?) p.(Asn237Ile) - likely pathogenic g.170216505T>A g.170498716T>A c.710A>T, p.Asn237Ile - SLC7A14_000037 heterozygous PubMed: Gao 2019 - - Germline ? - - - - LOVD
-?/. - c.714G>C r.(?) p.(Gly238=) - likely benign g.170216501C>G - SLC7A14(NM_020949.3):c.714G>C (p.G238=) - SLC7A14_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.715A>C r.(?) p.(Lys239Gln) - VUS g.170216500T>G - SLC7A14(NM_020949.2):c.715A>C (p.K239Q) - SLC7A14_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.725C>T r.(?) p.(Ala242Val) - VUS g.170216490G>A g.170498701G>A - - SLC7A14_000028 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs756436577 Germline - 2/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. 4 c.725C>T r.(?) p.(Ala242Val) - likely benign g.170216490G>A - c.725C>T - SLC7A14_000028 - PubMed: Sugahara 2017 - rs756436577 Germline no - - - - LOVD
-/. - c.729G>A r.(?) p.(Glu243=) - benign g.170216486C>T g.170498697C>T SLC7A14(NM_020949.3):c.729G>A (p.E243=) - SLC7A14_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.748G>A r.(?) p.(Gly250Ser) - VUS g.170216467C>T g.170498678C>T SLC7A14(NM_020949.3):c.748G>A (p.G250S) - SLC7A14_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.752G>C r.(?) p.(Trp251Ser) - VUS g.170216463C>G - SLC7A14(NM_020949.3):c.752G>C (p.W251S) - SLC7A14_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.759+5G>A r.spl? p.? - VUS g.170216451C>T - SLC7A14(NM_020949.3):c.759+5G>A - SLC7A14_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.760-2A>G r.spl? p.? - VUS g.170204159T>C - SLC7A14(NM_020949.3):c.760-2A>G - SLC7A14_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.789C>T r.(?) p.(Tyr263=) - likely benign g.170204128G>A g.170486339G>A SLC7A14(NM_020949.2):c.789C>T (p.Y263=) - SLC7A14_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 5 c.795C>T r.(=) p.(=) - likely benign g.170204122G>A - c.795C>T - SLC7A14_000058 - PubMed: Sugahara 2017 - - Germline - - - - - LOVD
-?/. - c.821C>T r.(?) p.(Thr274Ile) - likely benign g.170204096G>A g.170486307G>A SLC7A14(NM_020949.3):c.821C>T (p.T274I) - SLC7A14_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.855C>T r.(?) p.(Ile285=) - benign g.170204062G>A g.170486273G>A SLC7A14(NM_020949.3):c.855C>T (p.I285=) - SLC7A14_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.907-6T>C r.(=) p.(=) - likely benign g.170201317A>G g.170483528A>G SLC7A14(NM_020949.3):c.907-6T>C - SLC7A14_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.953C>T r.(?) p.(Thr318Met) - VUS g.170201265G>A g.170483476G>A - - SLC7A14_000027 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs149289989 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. - c.953C>T r.(?) p.(Thr318Met) - VUS g.170201265G>A g.170483476G>A SLC7A14(NM_020949.3):c.953C>T (p.T318M) - SLC7A14_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.988G>A r.(?) p.(Gly330Arg) - VUS g.170201230C>T g.170483441C>T - - SLC7A14_000026 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs2276717 Germline - 59/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. - c.988G>A r.(?) p.(Gly330Arg) - VUS g.170201230C>T g.170483441C>T - - SLC7A14_000026 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs2276717 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+/. - c.988G>A r.(?) p.(Gly330Arg) - pathogenic g.170201230C>T g.170483441C>T - - SLC7A14_000026 10 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2276717 Germline - 10/2795 individuals - - - Mohammed Faruq
-?/. - c.988G>A r.(?) p.(Gly330Arg) - likely benign g.170201230C>T g.170483441C>T - - SLC7A14_000026 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.018 - - - Global Variome, with Curator vacancy
+?/. - c.988G>A r.(?) p.(Gly330Arg) - likely pathogenic (recessive) g.170201230C>T g.170483441C>T - - SLC7A14_000026 - PubMed: Jin 2014 - - Germline - - - - - LOVD
+?/. - c.988G>A r.(?) p.(Gly330Arg) - likely pathogenic (recessive) g.170201230C>T g.170483441C>T - - SLC7A14_000026 - PubMed: Jin 2014 - - Germline - - - - - LOVD
+?/. - c.988G>A r.(?) p.(Gly330Arg) - likely pathogenic (recessive) g.170201230C>T g.170483441C>T - - SLC7A14_000026 - PubMed: Jin 2014 - - Germline - - - - - LOVD
?/. - c.988G>A r.(?) p.(Gly330Arg) ACMG VUS g.170201230C>T g.170483441C>T SLC7A14 c.G988A, p.G330R - SLC7A14_000026 marked as possibly causative, single heterozygous change in a recessive gene, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - LOVD
+?/. 6 c.988G>A r.(?) p.(Gly330Arg) - likely pathogenic (recessive) g.170201230C>T - c.988G>A - SLC7A14_000026 - PubMed: Liu-2020 - - Germline - - - - - LOVD
+?/. 6 c.988G>A r.(?) p.(Gly330Arg) - likely pathogenic (recessive) g.170201230C>T - c.988G>A - SLC7A14_000026 - PubMed: Liu-2020 - - Germline - - - - - LOVD
-?/. 6 c.988G>A r.(?) p.(Gly330Arg) - likely benign g.170201230C>T - c.988G>A - SLC7A14_000026 - PubMed: Sugahara 2017 - rs2276717 Germline no - - - - LOVD
+/. 6 c.988G>A r.(?) p.(Gly330Arg) - pathogenic g.170201230C>T - c.988G>A, p.G330R - SLC7A14_000026 - PubMed: Guo_2019 - - Germline - - - - - LOVD
+/. 6 c.988G>A r.(?) p.(Gly330Arg) - pathogenic g.170201230C>T - c.988G>A,p.G330R - SLC7A14_000026 - PubMed: Guo_2019 - - Unknown - - - - - LOVD
-?/. 6 c.1074G>A r.(=) p.(=) - likely benign g.170201144C>T - c.1074G>A - SLC7A14_000057 - PubMed: Sugahara 2017 - - Germline - - - - - LOVD
-/. - c.1083T>A r.(?) p.(Ile361=) - benign g.170201135A>T g.170483346A>T SLC7A14(NM_020949.3):c.1083T>A (p.I361=) - SLC7A14_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1116-4C>G r.spl? p.? - likely benign g.170198959G>C g.170481170G>C SLC7A14(NM_020949.2):c.1116-4C>G, SLC7A14(NM_020949.3):c.1116-4C>G - SLC7A14_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1116-4C>G r.spl? p.? - benign g.170198959G>C g.170481170G>C SLC7A14(NM_020949.2):c.1116-4C>G, SLC7A14(NM_020949.3):c.1116-4C>G - SLC7A14_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1129G>A r.(?) p.(Val377Ile) - VUS g.170198942C>T g.170481153C>T - - SLC7A14_000025 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs114883808 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. - c.1168G>C r.(?) p.(Val390Leu) - likely benign g.170198903C>G g.170481114C>G SLC7A14(NM_020949.2):c.1168G>C (p.V390L), SLC7A14(NM_020949.3):c.1168G>C (p.V390L) - SLC7A14_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1168G>C r.(?) p.(Val390Leu) - VUS g.170198903C>G - SLC7A14(NM_020949.2):c.1168G>C (p.V390L), SLC7A14(NM_020949.3):c.1168G>C (p.V390L) - SLC7A14_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1168G>C r.(?) p.(Val390Leu) ACMG VUS g.170198903C>G g.170481114C>G SLC7A14:NM_020949 c.G1168C, p.V390L - SLC7A14_000005 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - LOVD
?/. - c.1172C>T r.(?) p.(Ser391Leu) - VUS g.170198899G>A g.170481110G>A SLC7A14(NM_020949.2):c.1172C>T (p.S391L) - SLC7A14_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1172C>T r.(?) p.(Ser391Leu) - likely pathogenic g.170198899G>A g.170481110G>A c.1172C>T, p.Ser391Leu - SLC7A14_000036 heterozygous PubMed: Gao 2019 - - Germline ? - - - - LOVD
+?/. - c.1172C>T r.(?) p.(Ser391Leu) - likely pathogenic g.170198899G>A g.170481110G>A c.1172C>T, p.Ser391Leu - SLC7A14_000036 heterozygous PubMed: Gao 2019 - - Germline ? - - - - LOVD
+?/. - c.1172C>T r.(?) p.(Ser391Leu) - likely pathogenic g.170198899G>A g.170481110G>A c.1172C>T, p.Ser391Leu - SLC7A14_000036 heterozygous PubMed: Gao 2019 - - Germline ? - - - - LOVD
-?/. 7 c.1173G>A r.(=) p.(=) - likely benign g.170198898C>T - c.1173G>A - SLC7A14_000056 - PubMed: Sugahara 2017 - - Germline - - - - - LOVD
-/. - c.1236T>C r.(?) p.(Ser412=) - benign g.170198835A>G g.170481046A>G SLC7A14(NM_020949.3):c.1236T>C (p.S412=) - SLC7A14_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1244C>T r.(?) p.(Thr415Met) - VUS g.170198827G>A g.170481038G>A - - SLC7A14_000024 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs200090294 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. 7 c.1302G>A r.(=) p.(=) - likely benign g.170198769C>T - c.1302G>A - SLC7A14_000055 - PubMed: Sugahara 2017 - - Germline - - - - - LOVD
?/. - c.1391G>T r.(?) p.(Cys464Phe) - VUS g.170198680C>A g.170480891C>A - - SLC7A14_000023 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs79668755 Germline - 24/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. - c.1391G>T r.(?) p.(Cys464Phe) - VUS g.170198680C>A g.170480891C>A - - SLC7A14_000023 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs79668755 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. - c.1391G>T r.(?) p.(Cys464Phe) - likely benign g.170198680C>A g.170480891C>A SLC7A14(NM_020949.3):c.1391G>T (p.C464F) - SLC7A14_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.1391G>T r.(?) p.(Cys464Phe) - likely pathogenic (recessive) g.170198680C>A g.170480891C>A - - SLC7A14_000023 - PubMed: Jin 2014 - - Germline - - - - - LOVD
+?/. - c.1391G>T r.(?) p.(Cys464Phe) - likely pathogenic (recessive) g.170198680C>A g.170480891C>A - - SLC7A14_000023 - PubMed: Jin 2014 - - Germline - - - - - LOVD
+/. 7 c.1391G>T r.(?) p.(Cys464Phe) ACMG pathogenic g.170480891C>A g.170480891C>A SLC7A14 c.1391G > T, p.Cys464Phe, heterozygous - SLC7A14_000023 - PubMed: Sun 2020 - - Unknown ? - - - - LOVD
+?/. 7 c.1391G>T r.(?) p.(Cys464Phe) - likely pathogenic (recessive) g.170198680C>A - c.1391G>T - SLC7A14_000023 - PubMed: Liu-2020 - - Germline - - - - - LOVD
-?/. 7 c.1391G>T r.(?) p.(Cys464Phe) - likely benign g.170198680C>A - c.1391G>T - SLC7A14_000023 - PubMed: Sugahara 2017 - rs79668755 Germline no - - - - LOVD
-/. - c.1476T>C r.(?) p.(Asn492=) - benign g.170198595A>G g.170480806A>G SLC7A14(NM_020949.3):c.1476T>C (p.N492=) - SLC7A14_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1533C>T r.(?) p.(Tyr511=) - benign g.170198538G>A g.170480749G>A SLC7A14(NM_020949.3):c.1533C>T (p.Y511=) - SLC7A14_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1574C>A r.(?) p.(Ser525Tyr) - VUS g.170198497G>T g.170480708G>T - - SLC7A14_000022 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs752446863 Germline - 2/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. - c.1647C>T r.(?) p.(Gly549=) - likely benign g.170198424G>A - SLC7A14(NM_020949.3):c.1647C>T (p.G549=) - SLC7A14_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1667G>A r.(?) p.(Arg556Gln) - VUS g.170198404C>T g.170480615C>T - - SLC7A14_000021 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs767484956 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. - c.1682C>T r.(?) p.(Thr561Met) - VUS g.170198389G>A g.170480600G>A - - SLC7A14_000020 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. - c.1695G>A r.(?) p.(=) - VUS g.170198376C>T - SLC7A14(NM_020949.3):c.1695G>A (p.V565=) - SLC7A14_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1704C>T r.(?) p.(Cys568=) - likely benign g.170198367G>A g.170480578G>A SLC7A14(NM_020949.2):c.1704C>T (p.C568=), SLC7A14(NM_020949.3):c.1704C>T (p.C568=) - SLC7A14_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1704C>T r.(?) p.(Cys568=) - likely benign g.170198367G>A g.170480578G>A SLC7A14(NM_020949.2):c.1704C>T (p.C568=), SLC7A14(NM_020949.3):c.1704C>T (p.C568=) - SLC7A14_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1705G>A r.(?) p.(Val569Met) - VUS g.170198366C>T g.170480577C>T - - SLC7A14_000019 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs147231592 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. - c.1778A>G r.(?) p.(Gln593Arg) - VUS g.170198293T>C g.170480504T>C - - SLC7A14_000018 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 3/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-/. - c.1890T>G r.(?) p.(Pro630=) - benign g.170198181A>C g.170480392A>C SLC7A14(NM_020949.2):c.1890T>G (p.P630=), SLC7A14(NM_020949.3):c.1890T>G (p.P630=) - SLC7A14_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1890T>G r.(?) p.(Pro630=) - likely benign g.170198181A>C g.170480392A>C SLC7A14(NM_020949.2):c.1890T>G (p.P630=), SLC7A14(NM_020949.3):c.1890T>G (p.P630=) - SLC7A14_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 7 c.1890T>G r.(=) p.(=) - likely benign g.170198181A>C - c.1890T>G - SLC7A14_000013 - PubMed: Sugahara 2017 - - Germline - - - - - LOVD
+/. 7 c.1970G>A r.(?) p.(Arg657Gln) - pathogenic g.170198101C>T - c.1970G>A, p.R657Q - SLC7A14_000054 - PubMed: Guo_2019 - - Germline - - - - - LOVD
-/. - c.1994-9G>A r.(=) p.(=) - benign g.170185174C>T g.170467386C>T SLC7A14(NM_020949.3):c.1994-9G>A - SLC7A14_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.2040A>C r.(?) p.(Glu680Asp) - VUS g.170185119T>G g.170467331T>G - - SLC7A14_000017 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs762466382 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. - c.2047G>A r.(?) p.(Ala683Thr) - VUS g.170185112C>T g.170467324C>T - - SLC7A14_000016 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs777189956 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+/. - c.2083C>T r.(?) p.(Arg695Cys) - pathogenic g.170185076G>A g.170467288G>A - - SLC7A14_000015 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs181011740 Germline - 3/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+?/. - c.2083C>T r.(?) p.(Arg695Cys) - likely pathogenic g.170185076G>A g.170467288G>A c.2083C>T, p.Arg695Cys - SLC7A14_000015 heterozygous PubMed: Gao 2019 - - Germline ? - - - - LOVD
-?/. 8 c.2083C>T r.(?) p.(Arg695Cys) - likely benign g.170185076G>A - c.2083C>T - SLC7A14_000015 - PubMed: Sugahara 2017 - rs181011740 Germline no - - - - LOVD
-?/. - c.2088C>T r.(?) p.(Tyr696=) - likely benign g.170185071G>A g.170467283G>A SLC7A14(NM_020949.2):c.2088C>T (p.Y696=) - SLC7A14_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.2122T>G r.(?) p.(Phe708Val) - likely pathogenic (recessive) g.170185037A>C g.170467249A>C - - SLC7A14_000048 - PubMed: Jin 2014 - - Germline - - - - - LOVD
-?/. - c.2130C>T r.(?) p.(Tyr710=) - likely benign g.170185029G>A - SLC7A14(NM_020949.2):c.2130C>T (p.Y710=) - SLC7A14_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2226G>A r.(?) p.(Arg742=) - benign g.170184933C>T g.170467145C>T SLC7A14(NM_020949.2):c.2226G>A (p.R742=), SLC7A14(NM_020949.3):c.2226G>A (p.R742=) - SLC7A14_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2226G>A r.(?) p.(Arg742=) - likely benign g.170184933C>T g.170467145C>T SLC7A14(NM_020949.2):c.2226G>A (p.R742=), SLC7A14(NM_020949.3):c.2226G>A (p.R742=) - SLC7A14_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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