All variants in the SBF1 gene

Information The variants shown are described using the NM_002972.2 transcript reference sequence.

205 entries on 3 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.-753517_*3702627del r.0? p.0? - pathogenic g.47182944_51666786del - - - ALG12_000022 mosaicism, hemizygous in 0.56 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - Johan den Dunnen
?/. - c.55G>C r.(?) p.(Gly19Arg) - VUS g.50913215C>G g.50474786C>G SBF1(NM_002972.4):c.55G>C (p.G19R) - PPP6R2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.55+7G>A r.(=) p.(=) - benign g.50913208C>T g.50474779C>T SBF1(NM_002972.4):c.55+7G>A - SBF1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.55+9C>T r.(=) p.(=) - benign g.50913206G>A g.50474777G>A SBF1(NM_002972.4):c.55+9C>T - SBF1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.56-19C>T r.(=) p.(=) - likely benign g.50906909G>A g.50468480G>A SBF1(NM_002972.4):c.56-19C>T - PPP6R2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.141+10_141+12del r.(=) p.(=) - likely benign g.50906795_50906797del g.50468366_50468368del SBF1(NM_002972.4):c.141+10_141+12delGGG - PPP6R2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.291C>T r.(?) p.(Arg97=) - benign g.50906108G>A g.50467679G>A SBF1(NM_002972.4):c.291C>T (p.R97=) - SBF1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.296A>C r.(?) p.(Glu99Ala) - benign g.50906103T>G - SBF1(NM_002972.4):c.296A>C (p.E99A) - PPP6R2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.412C>T r.(?) p.(Arg138*) ACMG likely pathogenic g.50905987G>A g.50467558G>A - - SBF1_000055 ACMG pvs1, pm2 PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - Johan den Dunnen
-?/. - c.466C>T r.(?) p.(His156Tyr) - likely benign g.50905850G>A - SBF1(NM_002972.4):c.466C>T (p.H156Y) - PPP6R2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.498C>T r.(?) p.(Asn166=) - likely benign g.50905818G>A - SBF1(NM_002972.4):c.498C>T (p.N166=) - PPP6R2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.545C>T r.(?) p.(Ser182Leu) - VUS g.50905771G>A - - - SBF1_000059 - PubMed: Díaz-Gonzalez 2021 - - Germline - - - - - Johan den Dunnen
?/. - c.549G>C r.(?) p.Gln183His ACMG VUS g.50905767C>G g.50467338C>G - - SBF1_000053 co-occurrence with SBF1 c.558C>G (no phase information, other exon) - - - Germline - - - - - Andreas Laner
-?/. - c.549+10G>A r.(=) p.(=) - likely benign g.50905757C>T - SBF1(NM_002972.4):c.549+10G>A - PPP6R2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.558C>G r.(?) p.Ile186Met ACMG VUS g.50905131G>C g.50466702G>C - - SBF1_000052 co-occurrence with SBF1 c.549G>C (no phase information, other exon) - - - Germline - - - - - Andreas Laner
-?/. - c.603C>T r.(?) p.(Ala201=) - likely benign g.50905086G>A g.50466657G>A SBF1(NM_002972.4):c.603C>T (p.A201=) - PPP6R2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.656-6C>T r.(=) p.(=) - likely benign g.50904917G>A g.50466488G>A SBF1(NM_002972.2):c.656-6C>T (p.(=)) - PPP6R2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.789-18C>T r.(=) p.(=) - likely benign g.50904705G>A - SBF1(NM_002972.4):c.789-18C>T - PPP6R2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.868G>A r.(?) p.(Ala290Thr) - VUS g.50904608C>T g.50466179C>T SBF1(NM_002972.4):c.868G>A (p.A290T) - PPP6R2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.868G>A r.(?) p.(Ala290Thr) - likely benign g.50904608C>T - SBF1(NM_002972.4):c.868G>A (p.A290T) - PPP6R2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.898-18G>A r.(=) p.(=) - likely benign g.50904521C>T g.50466092C>T SBF1(NM_002972.4):c.898-18G>A - SBF1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.898-18G>A r.(=) p.(=) - likely benign g.50904521C>T - SBF1(NM_002972.4):c.898-18G>A - SBF1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.898-4G>A r.spl? p.? - likely benign g.50904507C>T g.50466078C>T SBF1(NM_002972.4):c.898-4G>A - PPP6R2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.956A>G r.(?) p.(His319Arg) - VUS g.50904445T>C g.50466016T>C SBF1(NM_002972.4):c.956A>G (p.H319R) - SBF1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1031A>C r.(?) p.(Glu344Ala) - VUS g.50904250T>G - SBF1(NM_002972.4):c.1031A>C (p.E344A) - PPP6R2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1056G>A r.(?) p.(Pro352=) - likely benign g.50904225C>T g.50465796C>T SBF1(NM_002972.4):c.1056G>A (p.P352=) - SBF1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1089+19C>T r.(=) p.(=) - benign g.50904173G>A g.50465744G>A SBF1(NM_002972.4):c.1089+19C>T - SBF1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1164C>T r.(?) p.(Val388=) - likely benign g.50903683G>A g.50465254G>A SBF1(NM_002972.4):c.1164C>T (p.V388=) - SBF1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1204-1G>A r.spl? p.? - VUS g.50903559C>T - SBF1(NM_002972.3):c.1204-1G>A - PPP6R2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1249A>G r.(?) p.(Met417Val) - pathogenic (recessive) g.50903513T>C g.50465084T>C A1249G - SBF1_000057 - PubMed: Nakhro 2013 - - Germline yes - - - - Johan den Dunnen
+/. - c.1327G>A r.(?) p.(Asp443Asn) - pathogenic (recessive) g.50903435C>T g.50465006C>T - - SBF1_000056 - PubMed: Alazami 2014, PubMed: Alazami 2015, Journal: Alazami 2015 - - Germline yes - - - - Johan den Dunnen
-?/. - c.1333-4dup r.spl? p.? - likely benign g.50903350dup - SBF1(NM_002972.4):c.1333-4dupC - PPP6R2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1399G>A r.(?) p.(Val467Ile) - VUS g.50903280C>T g.50464851C>T SBF1(NM_002972.4):c.1399G>A (p.V467I) - SBF1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1426A>G r.(?) p.(Lys476Glu) - VUS g.50903253T>C g.50464824T>C SBF1(NM_002972.4):c.1426A>G (p.K476E) - PPP6R2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1431+19G>A r.(=) p.(=) - likely benign g.50903229C>T - SBF1(NM_002972.4):c.1431+19G>A - PPP6R2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1432-13C>T r.(=) p.(=) - likely benign g.50903180G>A - SBF1(NM_002972.4):c.1432-13C>T - PPP6R2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1432-12G>A r.(=) p.(=) - likely benign g.50903179C>T g.50464750C>T SBF1(NM_002972.4):c.1432-12G>A - PPP6R2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1477G>A r.(?) p.(Gly493Ser) - VUS g.50903122C>T - SBF1(NM_002972.4):c.1477G>A (p.G493S) - PPP6R2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1508G>C r.(?) p.(Arg503Pro) - VUS g.50903091C>G g.50464662C>G SBF1(NM_002972.4):c.1508G>C (p.R503P) - PPP6R2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1570A>T r.(?) p.(Met524Leu) - likely benign g.50903029T>A g.50464600T>A SBF1(NM_002972.4):c.1570A>T (p.M524L) - PPP6R2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1577G>T r.(?) p.(Gly526Val) - VUS g.50903022C>A - SBF1(NM_002972.4):c.1577G>T (p.G526V) - PPP6R2_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1583C>A r.(?) p.(Pro528His) - VUS g.50903016G>T - SBF1(NM_002972.4):c.1583C>A (p.P528H) - PPP6R2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1642A>G r.(?) p.(Ile548Val) - VUS g.50902865T>C g.50464436T>C SBF1(NM_002972.4):c.1642A>G (p.I548V) - SBF1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1668T>C r.(?) p.(His556=) - benign g.50902839A>G g.50464410A>G SBF1(NM_002972.4):c.1668T>C (p.H556=) - PPP6R2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1668T>C r.(?) p.(His556=) - likely benign g.50902839A>G - SBF1(NM_002972.4):c.1668T>C (p.H556=) - PPP6R2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1716C>T r.(?) p.(Tyr572=) - likely benign g.50902791G>A - SBF1(NM_002972.3):c.1716C>T (p.Y572=) - PPP6R2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1732A>G r.(?) p.(Met578Val) - VUS g.50902775T>C g.50464346T>C SBF1(NM_002972.4):c.1732A>G (p.M578V) - PPP6R2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1749+7G>A r.(=) p.(=) - benign g.50902751C>T g.50464322C>T SBF1(NM_002972.4):c.1749+7G>A - SBF1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1866C>T r.(?) p.(Asp622=) - likely benign g.50901745G>A - SBF1(NM_002972.4):c.1866C>T (p.D622=) - PPP6R2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1899+14T>C r.(=) p.(=) - likely benign g.50901698A>G - SBF1(NM_002972.4):c.1899+14T>C - PPP6R2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1899+16C>T r.(=) p.(=) - likely benign g.50901696G>A - SBF1(NM_002972.4):c.1899+16C>T - PPP6R2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1947T>A r.(?) p.(Pro649=) - likely benign g.50901320A>T g.50462891A>T SBF1(NM_002972.4):c.1947T>A (p.P649=) - SBF1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1966C>T r.(?) p.(Arg656Trp) - VUS g.50901301G>A - SBF1(NM_002972.4):c.1966C>T (p.R656W) - PPP6R2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1968+15G>A r.(=) p.(=) - benign g.50901284C>T g.50462855C>T SBF1(NM_002972.4):c.1968+15G>A - PPP6R2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1968+15G>A r.(=) p.(=) - likely benign g.50901284C>T - SBF1(NM_002972.4):c.1968+15G>A - PPP6R2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1980G>A r.(?) p.(Pro660=) - benign g.50901135C>T g.50462706C>T SBF1(NM_002972.4):c.1980G>A (p.P660=) - PPP6R2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2034G>A r.(?) p.(Thr678=) - likely benign g.50901081C>T g.50462652C>T SBF1(NM_002972.3):c.2034G>A (p.T678=), SBF1(NM_002972.4):c.2034G>A (p.T678=) - SBF1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2034G>A r.(?) p.(Thr678=) - likely benign g.50901081C>T g.50462652C>T SBF1(NM_002972.3):c.2034G>A (p.T678=), SBF1(NM_002972.4):c.2034G>A (p.T678=) - SBF1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.2079C>T r.(?) p.(His693=) - benign g.50901036G>A g.50462607G>A SBF1(NM_002972.4):c.2079C>T (p.H693=) - PPP6R2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2079C>T r.(?) p.(His693=) - likely benign g.50901036G>A - SBF1(NM_002972.4):c.2079C>T (p.H693=) - PPP6R2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.2084G>A r.(?) p.(Arg695Gln) - VUS g.50901031C>T - SBF1(NM_002972.4):c.2084G>A (p.R695Q) - PPP6R2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.2106G>A r.(?) p.(Thr702=) - benign g.50901009C>T g.50462580C>T SBF1(NM_002972.4):c.2106G>A (p.T702=) - SBF1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2121C>G r.(?) p.(Pro707=) - likely benign g.50900994G>C g.50462565G>C SBF1(NM_002972.3):c.2121C>G (p.P707=) - PPP6R2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2128-17G>A r.(=) p.(=) - benign g.50900919C>T - SBF1(NM_002972.4):c.2128-17G>A - PPP6R2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.2140G>T r.(?) p.(Ala714Ser) - VUS g.50900890C>A g.50462461C>A SBF1(NM_002972.3):c.2140G>T (p.A714S) - PPP6R2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2175C>T r.(?) p.(Asp725=) - benign g.50900855G>A g.50462426G>A SBF1(NM_002972.4):c.2175C>T (p.D725=) - SBF1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2463C>T r.(?) p.(Asp821=) - likely benign g.50900482G>A - SBF1(NM_002972.4):c.2463C>T (p.D821=) - PPP6R2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.2563G>T r.(?) p.(Val855Leu) - VUS g.50900382C>A g.50461953C>A SBF1(NM_002972.2):c.2563G>T (p.(Val855Leu)) - SBF1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.2569+4C>T r.spl? p.? - benign g.50900372G>A g.50461943G>A SBF1(NM_002972.4):c.2569+4C>T - SBF1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2569+4C>T r.spl? p.? - likely benign g.50900372G>A - SBF1(NM_002972.4):c.2569+4C>T - SBF1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2569+16C>T r.(=) p.(=) - likely benign g.50900360G>A - SBF1(NM_002972.4):c.2569+16C>T - PPP6R2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2570-3C>T r.spl? p.? - likely benign g.50900301G>A - SBF1(NM_002972.4):c.2570-3C>T - PPP6R2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.2570-1G>T r.spl? p.? - VUS g.50900299C>A g.50461870C>A - - SBF1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2605G>A r.(?) p.(Val869Met) - VUS g.50900263C>T g.50461834C>T SBF1(NM_002972.4):c.2605G>A (p.V869M) - PPP6R2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2688G>A r.(?) p.(Val896=) - likely benign g.50900103C>T - SBF1(NM_002972.4):c.2688G>A (p.V896=) - PPP6R2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2697C>A r.(?) p.(Gly899=) - likely benign g.50900094G>T - SBF1(NM_002972.4):c.2697C>A (p.G899=) - PPP6R2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.2712G>C r.(?) p.(Leu904=) - benign g.50900079C>G g.50461650C>G SBF1(NM_002972.4):c.2712G>C (p.L904=) - PPP6R2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2737G>A r.(?) p.(Ala913Thr) - likely benign g.50900054C>T g.50461625C>T SBF1(NM_002972.3):c.2737G>A (p.A913T), SBF1(NM_002972.4):c.2737G>A (p.A913T) - SBF1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2737G>A r.(?) p.(Ala913Thr) - VUS g.50900054C>T - SBF1(NM_002972.3):c.2737G>A (p.A913T), SBF1(NM_002972.4):c.2737G>A (p.A913T) - SBF1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.2774C>G r.(?) p.(Ala925Gly) - VUS g.50900017G>C - SBF1(NM_002972.4):c.2774C>G (p.A925G) - PPP6R2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2784C>T r.(?) p.(Ala928=) - likely benign g.50900007G>A g.50461578G>A SBF1(NM_002972.4):c.2784C>T (p.A928=) - SBF1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 23 c.2885C>T r.(?) p.(Thr962Ile) ACMG VUS g.50899670G>A g.50461241G>A - - SBF1_000060 - - - - Germline - - - - - Gemeinschaftspraxis für Humangenetik Dresden
-?/. - c.2955C>T r.(?) p.(Ser985=) - likely benign g.50899600G>A g.50461171G>A SBF1(NM_002972.4):c.2955C>T (p.S985=) - PPP6R2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2967+9C>A r.(=) p.(=) - likely benign g.50899579G>T g.50461150G>T SBF1(NM_002972.4):c.2967+9C>A - PPP6R2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.3006C>T r.(?) p.(Asp1002=) - benign g.50899103G>A g.50460674G>A SBF1(NM_002972.4):c.3006C>T (p.D1002=) - PPP6R2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.3012C>T r.(?) p.(=) - likely benign g.50899097G>A - SBF1(NM_002972.4):c.3012C>T (p.A1004=) - PPP6R2_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.3044G>A r.(?) p.(Arg1015Gln) - VUS g.50899065C>T g.50460636C>T SBF1(NM_002972.3):c.3044G>A (p.R1015Q), SBF1(NM_002972.4):c.3044G>A (p.R1015Q) - PPP6R2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3044G>A r.(?) p.(Arg1015Gln) - VUS g.50899065C>T - SBF1(NM_002972.3):c.3044G>A (p.R1015Q), SBF1(NM_002972.4):c.3044G>A (p.R1015Q) - PPP6R2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.3147-8G>C r.(=) p.(=) - likely benign g.50898845C>G - SBF1(NM_002972.4):c.3147-8G>C - PPP6R2_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.3191G>A r.(?) p.(Gly1064Glu) - VUS g.50898793C>T g.50460364C>T SBF1(NM_002972.2):c.3191G>A (p.(Gly1064Glu)) - SBF1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3221A>C r.(?) p.(Asn1074Thr) - VUS g.50898763T>G - SBF1(NM_002972.4):c.3221A>C (p.N1074T) - PPP6R2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.3250C>A r.(?) p.(Pro1084Thr) - VUS g.50898734G>T g.50460305G>T SBF1(NM_002972.3):c.3250C>A (p.P1084T), SBF1(NM_002972.4):c.3250C>A (p.P1084T) - SBF1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.3250C>A r.(?) p.(Pro1084Thr) - likely benign g.50898734G>T g.50460305G>T SBF1(NM_002972.3):c.3250C>A (p.P1084T), SBF1(NM_002972.4):c.3250C>A (p.P1084T) - SBF1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3251C>T r.(?) p.(Pro1084Leu) - VUS g.50898733G>A - SBF1(NM_002972.4):c.3251C>T (p.(Pro1084Leu)) - PPP6R2_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3294G>A r.(?) p.(Glu1098=) - likely benign g.50898578C>T g.50460149C>T SBF1(NM_002972.4):c.3294G>A (p.E1098=) - PPP6R2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.3294G>A r.(?) p.(Glu1098=) - likely benign g.50898578C>T - SBF1(NM_002972.4):c.3294G>A (p.E1098=) - PPP6R2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.3302C>A r.(?) p.(Pro1101His) - VUS g.50898570G>T - SBF1(NM_002972.4):c.3302C>A (p.(Pro1101His)) - PPP6R2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3308C>T r.(?) p.(Thr1103Met) - VUS g.50898564G>A - SBF1(NM_002972.4):c.3308C>T (p.T1103M) - PPP6R2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.3339C>T r.(?) p.(Ser1113=) - benign g.50898533G>A g.50460104G>A SBF1(NM_002972.4):c.3339C>T (p.S1113=) - SBF1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.3340G>A r.(?) p.(Asp1114Asn) - VUS g.50898532C>T g.50460103C>T SBF1(NM_002972.4):c.3340G>A (p.D1114N) - PPP6R2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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