All variants in the SNTA1 gene

Information The variants shown are described using the NM_003098.2 transcript reference sequence.

110 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.13A>C r.(?) p.(Arg5=) - benign g.32031414T>G g.33443608T>G SNTA1(NM_003098.3):c.13A>C (p.R5=) - SNTA1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.28A>C r.(?) p.(Thr10Pro) - VUS g.32031399T>G - SNTA1(NM_003098.3):c.28A>C (p.T10P) - SNTA1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.98T>G r.(?) p.(Leu33Arg) - likely benign g.32031329A>C g.33443523A>C - - SNTA1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.114C>A r.(?) p.(Asp38Glu) - likely benign g.32031313G>T g.33443507G>T SNTA1(NM_003098.2):c.114C>A (p.(Asp38Glu), p.D38E), SNTA1(NM_003098.3):c.114C>A (p.D38E) - SNTA1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.114C>A r.(?) p.(Asp38Glu) - VUS g.32031313G>T g.33443507G>T SNTA1(NM_003098.2):c.114C>A (p.(Asp38Glu), p.D38E), SNTA1(NM_003098.3):c.114C>A (p.D38E) - SNTA1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.114C>A r.(?) p.(Asp38Glu) - likely benign g.32031313G>T g.33443507G>T SNTA1(NM_003098.2):c.114C>A (p.(Asp38Glu), p.D38E), SNTA1(NM_003098.3):c.114C>A (p.D38E) - SNTA1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.114C>A r.(?) p.(Asp38Glu) - likely benign g.32031313G>T g.33443507G>T SNTA1(NM_003098.2):c.114C>A (p.(Asp38Glu), p.D38E), SNTA1(NM_003098.3):c.114C>A (p.D38E) - SNTA1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.114C>G r.(?) p.(Asp38Glu) - likely benign g.32031313G>C - - - SNTA1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.114C>T r.(?) p.(Asp38=) - benign g.32031313G>A g.33443507G>A SNTA1(NM_003098.2):c.114C>T (p.D38=), SNTA1(NM_003098.3):c.114C>T (p.D38=) - SNTA1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.114C>T r.(?) p.(Asp38=) - likely benign g.32031313G>A - SNTA1(NM_003098.2):c.114C>T (p.D38=), SNTA1(NM_003098.3):c.114C>T (p.D38=) - SNTA1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.114C>T r.(?) p.(Asp38=) - likely benign g.32031313G>A - SNTA1(NM_003098.2):c.114C>T (p.D38=), SNTA1(NM_003098.3):c.114C>T (p.D38=) - SNTA1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.125T>C r.(?) p.(Val42Ala) - VUS g.32031302A>G g.33443496A>G SNTA1(NM_003098.3):c.125T>C (p.V42A) - SNTA1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.128G>A r.(?) p.(Ser43Asn) - VUS g.32031299C>T g.33443493C>T SNTA1(NM_003098.3):c.128G>A (p.S43N) - SNTA1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.128G>A r.(?) p.(Ser43Asn) - likely benign g.32031299C>T - SNTA1(NM_003098.3):c.128G>A (p.S43N) - SNTA1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.129C>T r.(?) p.(Ser43=) - likely benign g.32031298G>A - SNTA1(NM_003098.2):c.129C>T (p.S43=), SNTA1(NM_003098.3):c.129C>T (p.S43=) - SNTA1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.129C>T r.(?) p.(Ser43=) - likely benign g.32031298G>A - SNTA1(NM_003098.2):c.129C>T (p.S43=), SNTA1(NM_003098.3):c.129C>T (p.S43=) - SNTA1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.160G>C r.(?) p.(Gly54Arg) - VUS g.32031267C>G - SNTA1(NM_003098.2):c.160G>C (p.G54R), SNTA1(NM_003098.3):c.160G>C (p.G54R) - SNTA1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.160G>C r.(?) p.(Gly54Arg) - VUS g.32031267C>G - SNTA1(NM_003098.2):c.160G>C (p.G54R), SNTA1(NM_003098.3):c.160G>C (p.G54R) - SNTA1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.162_163insAGGT r.(?) p.(Ala55ArgfsTer71) - VUS g.32031264_32031265insACCT - - - SNTA1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.166C>G r.(?) p.(Pro56Ala) - likely benign g.32031261G>C - - - SNTA1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.166C>T r.(?) p.(Pro56Ser) - likely benign g.32031261G>A g.33443455G>A SNTA1(NM_003098.3):c.166C>T (p.P56S) - SNTA1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.173A>G r.(?) p.(Glu58Gly) - likely benign g.32031254T>C g.33443448T>C SNTA1(NM_003098.3):c.173A>G (p.E58G) - SNTA1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.173A>G r.(?) p.(Glu58Gly) - likely benign g.32031254T>C g.33443448T>C SNTA1(NM_003098.3):c.173A>G (p.E58G) - SNTA1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.182C>G r.(?) p.(Pro61Arg) - VUS g.32031245G>C - - - SNTA1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.194A>G r.(?) p.(Asn65Ser) - VUS g.32031233T>C g.33443427T>C - - SNTA1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.200C>T r.(?) p.(Ala67Val) - VUS g.32031227G>A g.33443421G>A - - SNTA1_000079 variant not definitively linked to disease Fusco 2042, submitted RCV000590155 rs536755693 Germline - - - - - Carmela Fusco
-/. - c.210G>C r.(?) p.(Pro70=) - benign g.32031217C>G - SNTA1(NM_003098.3):c.210G>C (p.P70=) - SNTA1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.213C>G r.(?) p.(Gly71=) - likely benign g.32031214G>C g.33443408G>C - - SNTA1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.220C>T r.(?) p.(Pro74Ser) - likely benign g.32031207G>A - - - SNTA1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.221C>T r.(?) p.(Pro74Leu) - VUS g.32031206G>A g.33443400G>A - - SNTA1_000009 - PubMed: Sahlin 2019, Journal: Sahlin 2019 - - Germline ? - - - - Ellika Sahlin
?/. - c.221C>T r.(?) p.(Pro74Leu) - VUS g.32031206G>A g.33443400G>A - - SNTA1_000009 - PubMed: Sahlin 2019, Journal: Sahlin 2019 - - Germline ? - - - - Ellika Sahlin
-?/. - c.221C>T r.(?) p.(Pro74Leu) - likely benign g.32031206G>A g.33443400G>A SNTA1(NM_003098.2):c.221C>T (p.P74L), SNTA1(NM_003098.3):c.221C>T (p.P74L) - SNTA1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.221C>T r.(?) p.(Pro74Leu) - likely benign g.32031206G>A g.33443400G>A SNTA1(NM_003098.2):c.221C>T (p.P74L), SNTA1(NM_003098.3):c.221C>T (p.P74L) - SNTA1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.221C>T r.(?) p.(Pro74Leu) - likely benign g.32031206G>A g.33443400G>A SNTA1(NM_003098.2):c.221C>T (p.P74L), SNTA1(NM_003098.3):c.221C>T (p.P74L) - SNTA1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.221C>T r.(?) p.(Pro74Leu) - VUS g.32031206G>A g.33443400G>A - - SNTA1_000009 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - rs572545726 Germline - - - - - Johan den Dunnen
?/. - c.224C>A r.(?) p.(Pro75Gln) - VUS g.32031203G>T g.33443397G>T SNTA1(NM_003098.3):c.224C>A (p.P75Q) - SNTA1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.225G>C r.(?) p.(Pro75=) - likely benign g.32031202C>G - - - SNTA1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.251A>C r.(?) p.(Gln84Pro) - VUS g.32031176T>G g.33443370T>G - - SNTA1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.310+6C>G r.(=) p.(=) - likely benign g.32031111G>C g.33443305G>C SNTA1(NM_003098.3):c.310+6C>G - SNTA1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.311-20C>G r.(=) p.(=) - benign g.32026852G>C g.33439046G>C SNTA1(NM_003098.3):c.311-20C>G - SNTA1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.311-6G>C r.(=) p.(=) - benign g.32026838C>G - SNTA1(NM_003098.3):c.311-6G>C - SNTA1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.312C>A r.(?) p.(Gly104=) - likely benign g.32026831G>T g.33439025G>T SNTA1(NM_003098.3):c.312C>A (p.G104=) - SNTA1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.312C>T r.(?) p.(Gly104=) - benign g.32026831G>A - SNTA1(NM_003098.3):c.312C>T (p.G104=) - SNTA1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.317G>A r.(?) p.(Arg106Gln) - benign g.32026826C>T g.33439020C>T SNTA1(NM_003098.2):c.317G>A (p.R106Q), SNTA1(NM_003098.3):c.317G>A (p.R106Q) - SNTA1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.317G>A r.(?) p.(Arg106Gln) - benign g.32026826C>T g.33439020C>T SNTA1(NM_003098.2):c.317G>A (p.R106Q), SNTA1(NM_003098.3):c.317G>A (p.R106Q) - SNTA1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.368C>G r.(?) p.(Ala123Gly) - VUS g.32026775G>C g.33438969G>C SNTA1(NM_003098.3):c.368C>G (p.A123G) - SNTA1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.375G>C r.(?) p.(Gln125His) - VUS g.32026768C>G - SNTA1(NM_003098.2):c.375G>C (p.Q125H) - SNTA1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.440C>A r.(?) p.(Thr147Asn) - VUS g.32026703G>T g.33438897G>T - - SNTA1_000055 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141724500 Germline - 1/2795 individuals - - - Mohammed Faruq
-/. - c.496+20G>T r.(=) p.(=) - benign g.32026627C>A g.33438821C>A SNTA1(NM_003098.3):c.496+20G>T - SNTA1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.497-7C>T r.(=) p.(=) - benign g.32005736G>A g.33417930G>A SNTA1(NM_003098.3):c.497-7C>T - SNTA1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.497-7C>T r.(=) p.(=) - benign g.32005736G>A g.33417930G>A SNTA1(NM_003098.3):c.497-7C>T - SNTA1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.497-5A>G r.spl? p.? - VUS g.32005734T>C g.33417928T>C SNTA1(NM_003098.2):c.497-5A>G, SNTA1(NM_003098.3):c.497-5A>G - SNTA1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.497-5A>G r.spl? p.? - VUS g.32005734T>C g.33417928T>C SNTA1(NM_003098.2):c.497-5A>G, SNTA1(NM_003098.3):c.497-5A>G - SNTA1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.513C>T r.(?) p.(Asp171=) - likely benign g.32005713G>A - SNTA1(NM_003098.2):c.513C>T (p.D171=) - SNTA1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.552G>A r.(?) p.(Ser184=) - benign g.32005674C>T g.33417868C>T SNTA1(NM_003098.3):c.552G>A (p.S184=) - SNTA1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.555C>T r.(?) p.(Val185=) - benign g.32005671G>A g.33417865G>A SNTA1(NM_003098.3):c.555C>T (p.V185=) - SNTA1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.555C>T r.(?) p.(Val185=) - benign g.32005671G>A g.33417865G>A SNTA1(NM_003098.3):c.555C>T (p.V185=) - SNTA1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.566C>T r.(?) p.(Ser189Leu) - VUS g.32005660G>A g.33417854G>A - - SNTA1_000008 - PubMed: Sahlin 2019, Journal: Sahlin 2019 - - Germline ? - - - - Ellika Sahlin
-?/. - c.566C>T r.(?) p.(Ser189Leu) - likely benign g.32005660G>A g.33417854G>A SNTA1(NM_003098.2):c.566C>T (p.(Ser189Leu), p.S189L), SNTA1(NM_003098.3):c.566C>T (p.S189L) - SNTA1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.566C>T r.(?) p.(Ser189Leu) - likely benign g.32005660G>A g.33417854G>A SNTA1(NM_003098.2):c.566C>T (p.(Ser189Leu), p.S189L), SNTA1(NM_003098.3):c.566C>T (p.S189L) - SNTA1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.566C>T r.(?) p.(Ser189Leu) - VUS g.32005660G>A g.33417854G>A SNTA1(NM_003098.2):c.566C>T (p.(Ser189Leu), p.S189L), SNTA1(NM_003098.3):c.566C>T (p.S189L) - SNTA1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.566C>T r.(?) p.(Ser189Leu) - likely benign g.32005660G>A - SNTA1(NM_003098.2):c.566C>T (p.(Ser189Leu), p.S189L), SNTA1(NM_003098.3):c.566C>T (p.S189L) - SNTA1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.674_675del r.(?) p.(Arg225MetfsTer5) - VUS g.32005551_32005552del g.33417745_33417746del SNTA1(NM_003098.3):c.674_675delGG (p.R225Mfs*5) - SNTA1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.677G>A r.(?) p.(Cys226Tyr) - VUS g.32005549C>T g.33417743C>T SNTA1(NM_003098.3):c.677G>A (p.C226Y) - SNTA1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.701+10G>A r.(=) p.(=) - benign g.32005515C>T g.33417709C>T SNTA1(NM_003098.2):c.701+10G>A, SNTA1(NM_003098.3):c.701+10G>A - SNTA1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.701+10G>A r.(=) p.(=) - benign g.32005515C>T g.33417709C>T SNTA1(NM_003098.2):c.701+10G>A, SNTA1(NM_003098.3):c.701+10G>A - SNTA1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.719C>T r.(?) p.(Ser240Leu) - likely benign g.32000571G>A g.33412765G>A - - SNTA1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 4 c.770C>G r.(?) p.(Ala257Gly) - VUS g.32000520G>C g.33412714G>C - - SNTA1_000007 - - - - Germline - - - - - Sofie Lindgren Christiansen
+?/. - c.770C>G r.(?) p.(Ala257Gly) - VUS g.32000520G>C g.33412714G>C - - SNTA1_000007 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - rs56157422 Germline - - - - - Johan den Dunnen
-?/. - c.770C>G r.(?) p.(Ala257Gly) - likely benign g.32000520G>C g.33412714G>C SNTA1(NM_003098.2):c.770C>G (p.A257G), SNTA1(NM_003098.3):c.770C>G (p.A257G) - SNTA1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.770C>G r.(?) p.(Ala257Gly) - likely benign g.32000520G>C g.33412714G>C SNTA1(NM_003098.2):c.770C>G (p.A257G), SNTA1(NM_003098.3):c.770C>G (p.A257G) - SNTA1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.770C>G r.(?) p.(Ala257Gly) - likely benign g.32000520G>C g.33412714G>C SNTA1(NM_003098.2):c.770C>G (p.A257G), SNTA1(NM_003098.3):c.770C>G (p.A257G) - SNTA1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.770C>G r.(?) p.(Ala257Gly) - VUS g.32000520G>C g.33412714G>C - - SNTA1_000007 conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs56157422 Germline - 3/2793 individuals - - - Mohammed Faruq
?/. - c.776C>T r.(?) p.(Ser259Leu) - VUS g.32000514G>A g.33412708G>A SNTA1(NM_003098.3):c.776C>T (p.S259L) - SNTA1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.776C>T r.(?) p.(Ser259Leu) - VUS g.32000514G>A - SNTA1(NM_003098.3):c.776C>T (p.S259L) - SNTA1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.807T>C r.(?) p.(Asn269=) - benign g.32000483A>G g.33412677A>G SNTA1(NM_003098.3):c.807T>C (p.N269=) - SNTA1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.807T>C r.(?) p.(Asn269=) - benign g.32000483A>G g.33412677A>G SNTA1(NM_003098.3):c.807T>C (p.N269=) - SNTA1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.812dup r.(?) p.(Thr272AspfsTer7) - VUS g.32000478dup g.33412672dup - - SNTA1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.828G>A r.(?) p.(Lys276=) - benign g.32000462C>T g.33412656C>T SNTA1(NM_003098.3):c.828G>A (p.K276=, p.(Lys276=)) - SNTA1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.828G>A r.(=) p.(=) - VUS g.32000462C>T g.33412656C>T - - SNTA1_000014 conflicting interpretations of pathogenicity; 67 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35938843 Germline - 67/2795 individuals - - - Mohammed Faruq
?/. - c.828G>A r.(=) p.(=) - VUS g.32000462C>T g.33412656C>T - - SNTA1_000014 conflicting interpretations of pathogenicity; 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35938843 Germline - 2/2795 individuals - - - Mohammed Faruq
-?/. - c.828G>A r.(?) p.(Lys276=) - likely benign g.32000462C>T - SNTA1(NM_003098.3):c.828G>A (p.K276=, p.(Lys276=)) - SNTA1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.832G>A r.(?) p.(Glu278Lys) - VUS g.32000458C>T g.33412652C>T - - SNTA1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.869G>A r.(?) p.(Gly290Glu) - VUS g.32000421C>T g.33412615C>T - - SNTA1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.909+17G>C r.(=) p.(=) - benign g.32000364C>G g.33412558C>G SNTA1(NM_003098.3):c.909+17G>C - SNTA1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.909+20C>T r.(=) p.(=) - benign g.32000361G>A - SNTA1(NM_003098.3):c.909+20C>T - SNTA1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.909+30T>C r.(=) p.(=) - benign g.32000351A>G g.33412545A>G - - SNTA1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.984C>T r.(?) p.(Pro328=) - benign g.32000158G>A g.33412352G>A SNTA1(NM_003098.3):c.984C>T (p.P328=) - SNTA1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.994G>A r.(?) p.(Glu332Lys) - VUS g.32000148C>T g.33412342C>T SNTA1(NM_003098.3):c.994G>A (p.E332K) - SNTA1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.994G>A r.(?) p.(Glu332Lys) - likely benign g.32000148C>T g.33412342C>T SNTA1(NM_003098.3):c.994G>A (p.E332K) - SNTA1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1007G>A r.(?) p.(Arg336Gln) - likely benign g.32000135C>T g.33412329C>T - - SNTA1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1080C>T r.(?) p.(Tyr360=) - likely benign g.31998098G>A - SNTA1(NM_003098.2):c.1080C>T (p.Y360=) - SNTA1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1080C>T r.(?) p.(Tyr360=) - likely benign g.31998098G>A - SNTA1(NM_003098.2):c.1080C>T (p.Y360=) - SNTA1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1088A>C r.(?) p.(Glu363Ala) - likely benign g.31998090T>G - SNTA1(NM_003098.3):c.1088A>C (p.E363A) - SNTA1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1109C>T r.(?) p.(Thr370Met) - VUS g.31998069G>A g.33410263G>A - - SNTA1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1111G>C r.(?) p.(Gly371Arg) - VUS g.31998067C>G - SNTA1(NM_003098.2):c.1111G>C (p.G371R) - SNTA1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1147G>A r.(?) p.(Val383Met) - VUS g.31998031C>T g.33410225C>T - - SNTA1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1180C>T r.(?) p.(Arg394Cys) - VUS g.31997998G>A - - - SNTA1_000078 - - - rs567451585 CLASSIFICATION record - - - - - MobiDetails
-?/. - c.1209C>T r.(?) p.(Ala403=) - likely benign g.31997969G>A g.33410163G>A - - SNTA1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1238-14T>C r.(=) p.(=) - benign g.31996708A>G - SNTA1(NM_003098.3):c.1238-14T>C - SNTA1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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