Unique variants in the SPTA1 gene

Information The variants shown are described using the NM_003126.2 transcript reference sequence.

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

Reported     

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     
-/. 1 - c.-126del r.(?) p.(=) - benign g.158656443del g.158686653del SPTA1(NM_003126.3):c.-126delT - SPTA1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.-126T>C r.(?) p.(=) - likely benign g.158656433A>G g.158686643A>G SPTA1(NM_003126.3):c.-126T>C - SPTA1_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.-62A>C r.(?) p.(=) - benign g.158656369T>G g.158686579T>G SPTA1(NM_003126.3):c.-62A>C - SPTA1_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.-60T>C r.(?) p.(=) - benign g.158656367A>G g.158686577A>G SPTA1(NM_003126.3):c.-60T>C - SPTA1_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.-48_-41dup r.(?) p.(=) - benign g.158656359_158656366dup g.158686569_158686576dup SPTA1(NM_003126.3):c.-48_-41dupCTCTCTCT - SPTA1_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.-44_-41dup r.(?) p.(=) - benign g.158656363_158656366dup g.158686573_158686576dup SPTA1(NM_003126.3):c.-44_-41dupCTCT - SPTA1_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.-42_-41dup r.(?) p.(=) - benign g.158656365_158656366dup g.158686575_158686576dup SPTA1(NM_003126.3):c.-42_-41dupCT - SPTA1_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.23C>T r.(?) p.(Thr8Ile) - likely benign g.158656285G>A - SPTA1(NM_003126.3):c.23C>T (p.T8I) - SPTA1_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.24+3A>G r.spl? p.? - benign g.158656281T>C g.158686491T>C SPTA1(NM_003126.3):c.24+3A>G - SPTA1_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-/. 1 - c.24+27A>G r.(=) p.(=) - benign g.158656257T>C g.158686467T>C SPTA1(NM_003126.3):c.24+27A>G - SPTA1_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.24+132_24+137del r.(=) p.(=) - benign g.158656152_158656157del g.158686362_158686367del SPTA1(NM_003126.3):c.24+132_24+137delCTTTTA - SPTA1_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.25-178A>T r.(=) p.(=) - benign g.158655315T>A g.158685525T>A SPTA1(NM_003126.3):c.25-178A>T - SPTA1_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.25-25G>T r.(=) p.(=) - benign g.158655162C>A g.158685372C>A SPTA1(NM_003126.3):c.25-25G>T - SPTA1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.33G>C r.(?) p.(Glu11Asp) - likely benign g.158655129C>G g.158685339C>G SPTA1(NM_003126.3):c.33G>C (p.E11D) - SPTA1_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.82C>A r.(?) p.(Arg28Ser) - pathogenic g.158655080G>T g.158685290G>T SPTA1(NM_003126.3):c.82C>A (p.R28S) - SPTA1_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.82C>G r.(?) p.(Arg28Gly) - pathogenic g.158655080G>C g.158685290G>C SPTA1(NM_003126.3):c.82C>G (p.R28G) - SPTA1_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.83G>A r.(?) p.(Arg28His) - pathogenic g.158655079C>T g.158685289C>T SPTA1(NM_003126.3):c.83G>A (p.R28H) - SPTA1_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.100C>T r.(?) p.(Arg34Trp) - pathogenic g.158655062G>A g.158685272G>A SPTA1(NM_003126.3):c.100C>T (p.R34W) - SPTA1_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.101G>C r.(?) p.(Arg34Pro) - pathogenic g.158655061C>G g.158685271C>G SPTA1(NM_003126.3):c.101G>C (p.R34P) - SPTA1_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.121C>A r.(?) p.(Arg41=) - likely benign g.158655041G>T g.158685251G>T SPTA1(NM_003126.3):c.121C>A (p.R41=) - SPTA1_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.126C>T r.(?) p.(Val42=) - benign g.158655036G>A g.158685246G>A SPTA1(NM_003126.3):c.126C>T (p.V42=) - SPTA1_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
+/. 1 - c.134G>C r.(?) p.(Arg45Thr) - pathogenic g.158655028C>G - SPTA1(NM_003126.3):c.134G>C (p.R45T) - SPTA1_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.264+46T>C r.(=) p.(=) - benign g.158654852A>G g.158685062A>G SPTA1(NM_003126.3):c.264+46T>C - SPTA1_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.264+112G>A r.(=) p.(=) - benign g.158654786C>T g.158684996C>T SPTA1(NM_003126.3):c.264+112G>A - SPTA1_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.264+239C>T r.(=) p.(=) - benign g.158654659G>A g.158684869G>A SPTA1(NM_003126.3):c.264+239C>T - SPTA1_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.264+240A>G r.(=) p.(=) - benign g.158654658T>C g.158684868T>C SPTA1(NM_003126.3):c.264+240A>G - SPTA1_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.265-24A>C r.(=) p.(=) - benign g.158653310T>G g.158683520T>G SPTA1(NM_003126.3):c.265-24A>C - SPTA1_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.352C>T r.(?) p.(Arg118*) - pathogenic g.158653199G>A - SPTA1(NM_003126.3):c.352C>T (p.R118*) - SPTA1_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.373G>A r.(?) p.(Ala125Thr) - VUS g.158653178C>T - SPTA1(NM_003126.3):c.373G>A (p.A125T) - SPTA1_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.452G>A r.(?) p.(Gly151Asp) - pathogenic g.158651396C>T g.158681606C>T SPTA1(NM_003126.2):c.452G>A (p.(Gly151Asp)) - SPTA1_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.678G>A r.(?) p.(Glu226=) - pathogenic g.158650373C>T g.158680583C>T SPTA1(NM_003126.3):c.678G>A (p.E226=) - SPTA1_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.679-166A>G r.(=) p.(=) - benign g.158648490T>C g.158678700T>C SPTA1(NM_003126.3):c.679-166A>G - SPTA1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.779T>C r.(?) p.(Leu260Pro) - pathogenic g.158648224A>G g.158678434A>G SPTA1(NM_003126.3):c.779T>C (p.L260P) - SPTA1_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.793A>G r.(?) p.(Asn265Asp) - benign g.158648210T>C g.158678420T>C SPTA1(NM_003126.3):c.793A>G (p.N265D) - SPTA1_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.798A>G r.(?) p.(Leu266=) - benign g.158648205T>C g.158678415T>C SPTA1(NM_003126.3):c.798A>G (p.L266=) - SPTA1_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.812+86T>G r.(=) p.(=) - benign g.158648105A>C g.158678315A>C SPTA1(NM_003126.3):c.812+86T>G - SPTA1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.812+183G>T r.(=) p.(=) - benign g.158648008C>A g.158678218C>A SPTA1(NM_003126.3):c.812+183G>T - SPTA1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.813-105T>C r.(=) p.(=) - benign g.158647729A>G g.158677939A>G SPTA1(NM_003126.3):c.813-105T>C - SPTA1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.813-45A>G r.(=) p.(=) - benign g.158647669T>C g.158677879T>C SPTA1(NM_003126.3):c.813-45A>G - SPTA1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 2 - c.813-7A>T r.(=) p.(=) - benign g.158647631T>A g.158677841T>A SPTA1(NM_003126.3):c.813-7A>T - SPTA1_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-/. 2 - c.915T>C r.(?) p.(Ser305=) - benign g.158647522A>G g.158677732A>G SPTA1(NM_003126.3):c.915T>C (p.S305=) - SPTA1_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
?/. 1 - c.917A>C r.(?) p.(His306Pro) - VUS g.158647520T>G g.158677730T>G SPTA1(NM_003126.3):c.917A>C (p.H306P) - SPTA1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 2 - c.942T>A r.(?) p.(Ala314=) - benign g.158647495A>T g.158677705A>T SPTA1(NM_003126.3):c.942T>A (p.A314=) - SPTA1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-/. 1 - c.957+168T>C r.(=) p.(=) - benign g.158647312A>G g.158677522A>G SPTA1(NM_003126.3):c.957+168T>C - SPTA1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.958-138A>G r.(=) p.(=) - benign g.158646223T>C g.158676433T>C SPTA1(NM_003126.3):c.958-138A>G - SPTA1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1078A>T r.(?) p.(Thr360Ser) - likely benign g.158645965T>A g.158676175T>A SPTA1(NM_003126.3):c.1078A>T (p.T360S) - SPTA1_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1112+169T>C r.(=) p.(=) - benign g.158645762A>G g.158675972A>G SPTA1(NM_003126.3):c.1112+169T>C - SPTA1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1161C>T r.(?) p.(Asn387=) - likely benign g.158644417G>A - SPTA1(NM_003126.3):c.1161C>T (p.N387=) - SPTA1_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1248+36C>A r.(=) p.(=) - benign g.158644294G>T g.158674504G>T SPTA1(NM_003126.3):c.1248+36C>A - SPTA1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 2 - c.1350+14A>T r.(=) p.(=) - benign g.158644105T>A g.158674315T>A SPTA1(NM_003126.3):c.1350+14A>T - SPTA1_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.1351-4A>G r.spl? p.? - likely benign g.158641990T>C g.158672200T>C SPTA1(NM_003126.3):c.1351-4A>G - SPTA1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1489-198A>G r.(=) p.(=) - benign g.158641441T>C g.158671651T>C SPTA1(NM_003126.3):c.1489-198A>G - SPTA1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1489-41C>A r.(=) p.(=) - benign g.158641284G>T g.158671494G>T SPTA1(NM_003126.3):c.1489-41C>A - SPTA1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1600-25T>C r.(=) p.(=) - benign g.158639601A>G g.158669811A>G SPTA1(NM_003126.3):c.1600-25T>C - SPTA1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1600-10A>G r.(=) p.(=) - benign g.158639586T>C g.158669796T>C SPTA1(NM_003126.3):c.1600-10A>G - SPTA1_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1677+60G>T r.(=) p.(=) - benign g.158639439C>A g.158669649C>A SPTA1(NM_003126.3):c.1677+60G>T - SPTA1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1703G>A r.(?) p.(Arg568His) - likely benign g.158639328C>T g.158669538C>T SPTA1(NM_003126.3):c.1703G>A (p.R568H) - SPTA1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1833+92C>T r.(=) p.(=) - benign g.158639106G>A g.158669316G>A SPTA1(NM_003126.3):c.1833+92C>T - SPTA1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1833+169T>C r.(=) p.(=) - benign g.158639029A>G g.158669239A>G SPTA1(NM_003126.3):c.1833+169T>C - SPTA1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1834-16_1834-14del r.(=) p.(=) - benign g.158637879_158637881del g.158668089_158668091del SPTA1(NM_003126.3):c.1834-16_1834-14delTTT - SPTA1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1834-15_1834-14del r.(=) p.(=) - benign g.158637880_158637881del g.158668090_158668091del SPTA1(NM_003126.3):c.1834-15_1834-14delTT - SPTA1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1834-14del r.(=) p.(=) - benign g.158637881del g.158668091del SPTA1(NM_003126.3):c.1834-14delT - SPTA1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1834-14dup r.(=) p.(=) - benign g.158637881dup g.158668091dup SPTA1(NM_003126.3):c.1834-14dupT - SPTA1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.1850dup r.(?) p.(Ser618GlufsTer10) - pathogenic g.158637837dup g.158668047dup SPTA1(NM_003126.3):c.1850dupA (p.S618Efs*10) - SPTA1_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/., ?/. 3 - c.1958A>G r.(?) p.(Tyr653Cys) - benign, likely benign, VUS g.158637728T>C g.158667938T>C SPTA1(NM_003126.2):c.1958A>G (p.(Tyr653Cys)), SPTA1(NM_003126.3):c.1958A>G (p.Y653C) - SPTA1_000093 conflicting interpretations of pathogenicity; 13 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs148912436 CLASSIFICATION record, Germline - 13/2794 individuals - - - VKGL-NL_Leiden, VKGL-NL_Utrecht, Mohammed Faruq
+/. 1 - c.1959T>A r.(?) p.(Tyr653Ter) - pathogenic g.158637727A>T g.158667937A>T SPTA1(NM_003126.3):c.1959T>A (p.Y653*) - SPTA1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/. 2 - c.1982G>A r.(?) p.(Arg661His) - benign, likely benign g.158637704C>T g.158667914C>T SPTA1(NM_003126.3):c.1982G>A (p.R661H) - SPTA1_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.2093A>T r.(?) p.(Asp698Val) - VUS g.158636233T>A g.158666443T>A SPTA1(NM_003126.3):c.2093A>T (p.D698V) - SPTA1_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2102G>A r.(?) p.(Arg701His) - benign g.158636224C>T g.158666434C>T SPTA1(NM_003126.3):c.2102G>A (p.R701H) - SPTA1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.2221-184T>C r.(=) p.(=) - benign g.158632919A>G g.158663129A>G SPTA1(NM_003126.3):c.2221-184T>C - SPTA1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.2221-24G>A r.(=) p.(=) - benign g.158632759C>T g.158662969C>T SPTA1(NM_003126.3):c.2221-24G>A - SPTA1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.2353C>A r.(?) p.(Arg785=) - benign g.158632603G>T g.158662813G>T SPTA1(NM_003126.3):c.2353C>A (p.R785=) - SPTA1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.2353C>T r.(?) p.(Arg785Ter) - pathogenic g.158632603G>A g.158662813G>A SPTA1(NM_003126.3):c.2353C>T (p.R785*) - SPTA1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.2373C>A r.(?) p.(Asp791Glu) - pathogenic g.158632583G>T g.158662793G>T SPTA1(NM_003126.3):c.2373C>A (p.D791E) - SPTA1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.2418G>A r.(?) p.(Glu806=) - benign g.158632538C>T g.158662748C>T SPTA1(NM_003126.3):c.2418G>A (p.E806=) - SPTA1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.2465-58G>A r.(=) p.(=) - benign g.158631257C>T g.158661467C>T SPTA1(NM_003126.3):c.2465-58G>A - SPTA1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2493T>C r.(?) p.(Leu831=) - likely benign g.158631171A>G g.158661381A>G SPTA1(NM_003126.3):c.2493T>C (p.L831=) - SPTA1_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.2493T>G r.(?) p.(Leu831=) - benign g.158631171A>C g.158661381A>C SPTA1(NM_003126.3):c.2493T>G (p.L831=) - SPTA1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.2520G>C r.(?) p.(Glu840Asp) - likely benign g.158631144C>G g.158661354C>G SPTA1(NM_003126.3):c.2520G>C (p.E840D) - SPTA1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.2542C>T r.(?) p.(Arg848Cys) - VUS g.158631122G>A g.158661332G>A SPTA1(NM_003126.3):c.2542C>T (p.R848C) - SPTA1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2588-4A>G r.spl? p.? - likely benign g.158627488T>C g.158657698T>C SPTA1(NM_003126.3):c.2588-4A>G - SPTA1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2588-3T>C r.spl? p.? - likely benign g.158627487A>G g.158657697A>G SPTA1(NM_003126.3):c.2588-3T>C - SPTA1_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2600C>A r.(?) p.(Ala867Glu) - VUS g.158627472G>T g.158657682G>T SPTA1(NM_003126.3):c.2600C>A (p.A867E) - SPTA1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.2755G>T r.(?) p.(Glu919Ter) - pathogenic g.158627317C>A g.158657527C>A SPTA1(NM_003126.3):c.2755G>T (p.E919*) - SPTA1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2805+7T>G r.(=) p.(=) - likely benign g.158627260A>C g.158657470A>C SPTA1(NM_003126.3):c.2805+7T>G - SPTA1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2806-144T>C r.(=) p.(=) - benign g.158626590A>G g.158656800A>G SPTA1(NM_003126.3):c.2806-144T>C - SPTA1_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.2806-13T>G r.(=) p.(=) - pathogenic g.158626459A>C g.158656669A>C SPTA1(NM_003126.3):c.2806-13T>G - SPTA1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 2 - c.2874G>A r.(?) p.(Leu958=) - benign g.158626378C>T g.158656588C>T SPTA1(NM_003126.3):c.2874G>A (p.L958=) - SPTA1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-/. 1 - c.2898+53G>T r.(=) p.(=) - benign g.158626301C>A g.158656511C>A SPTA1(NM_003126.3):c.2898+53G>T - SPTA1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.2899-103G>A r.(=) p.(=) - benign g.158624641C>T g.158654851C>T SPTA1(NM_003126.3):c.2899-103G>A - SPTA1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.2899-32G>A r.(=) p.(=) - benign g.158624570C>T g.158654780C>T SPTA1(NM_003126.3):c.2899-32G>A - SPTA1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/. 2 - c.2909C>A r.(?) p.(Ala970Asp) - benign, likely benign g.158624528G>T g.158654738G>T SPTA1(NM_003126.3):c.2909C>A (p.A970D) - SPTA1_000071 31 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs35948326 CLASSIFICATION record, Germline - 31/2795 individuals - - - VKGL-NL_Utrecht, Mohammed Faruq
-/. 1 - c.2982A>G r.(?) p.(Arg994=) - benign g.158624455T>C g.158654665T>C SPTA1(NM_003126.3):c.2982A>G (p.R994=) - SPTA1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.3037-14T>C r.(=) p.(=) - benign g.158623229A>G g.158653439A>G SPTA1(NM_003126.3):c.3037-14T>C - SPTA1_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.3157A>T r.(?) p.(Ile1053Phe) - VUS g.158623095T>A - SPTA1(NM_003126.3):c.3157A>T (p.I1053F) - SPTA1_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3167G>T r.(?) p.(Arg1056Leu) - likely benign g.158623085C>A g.158653295C>A SPTA1(NM_003126.2):c.3167G>T (p.(Arg1056Leu)) - SPTA1_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.3171G>A r.(?) p.(Gln1057=) - benign g.158623081C>T g.158653291C>T SPTA1(NM_003126.3):c.3171G>A (p.Q1057=) - SPTA1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.3357G>C r.(?) p.(Lys1119Asn) - likely pathogenic g.158622275C>G g.158652485C>G SPTA1(NM_003126.3):c.3357G>C (p.K1119N) - SPTA1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.3478-85T>G r.(=) p.(=) - benign g.158619822A>C g.158650032A>C SPTA1(NM_003126.3):c.3478-85T>G - SPTA1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 2 - c.3487T>G r.(?) p.(Ser1163Ala) - benign g.158619728A>C g.158649938A>C SPTA1(NM_003126.3):c.3487T>G (p.S1163A) - SPTA1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
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