All transcript variants in gene SHROOM4

Information The variants shown are described using the NM_020717.3 transcript reference sequence.

111 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.19T>G r.(?) p.(Ser7Ala) - VUS g.50557000A>C g.50814000A>C SHROOM4(NM_020717.3):c.19T>G (p.S7A) - SHROOM4_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.266G>A r.(?) p.(Arg89Lys) - benign g.50438789C>T g.50695789C>T SHROOM4(NM_020717.3):c.266G>A (p.R89K, p.(Arg89Lys)) - SHROOM4_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.266G>A r.(?) p.(Arg89Lys) - likely benign g.50438789C>T g.50695789C>T SHROOM4(NM_020717.3):c.266G>A (p.R89K, p.(Arg89Lys)) - SHROOM4_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.266G>A r.(?) p.(Arg89Lys) - VUS g.50438789C>T g.50695789C>T - - SHROOM4_000065 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.267G>A r.(?) p.(Arg89=) - likely benign g.50438788C>T - SHROOM4(NM_020717.3):c.267G>A (p.R89=) - SHROOM4_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.294G>A r.(=) p.(=) - VUS g.50381284C>T g.50638284C>T P98P - SHROOM4_000076 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.404+9A>G r.(=) p.(=) - likely benign g.50381165T>C g.50638165T>C SHROOM4(NM_020717.3):c.404+9A>G - SHROOM4_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. 3i c.404+457C>T r.(=) p.(=) - VUS g.50380717G>A g.50637717G>A - - SHROOM4_000026 - - - - Germline - - - - - Yu Sun
?/. 3i c.405-455A>G r.(=) p.(=) - VUS g.50379123T>C g.50636123T>C - - SHROOM4_000025 - - - - Germline - - - - - Yu Sun
?/. 3i c.405-124C>T r.(=) p.(=) - VUS g.50378792G>A g.50635792G>A - - SHROOM4_000024 - - - - Germline - - - - - Yu Sun
?/. 3i c.405-112del r.(=) p.(=) - VUS g.50378791del g.50635791del - - SHROOM4_000020 - - - - Germline - - - - - Yu Sun
-?/. - c.436C>T r.(?) p.(Arg146Trp) - likely benign g.50378637G>A g.50635637G>A SHROOM4(NM_020717.3):c.436C>T (p.R146W) - SHROOM4_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.437G>A r.(?) p.(Arg146Gln) - likely benign g.50378636C>T g.50635636C>T SHROOM4(NM_020717.3):c.437G>A (p.R146Q) - SHROOM4_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.450C>T r.(=) p.(=) - VUS g.50378623G>A g.50635623G>A T150T - SHROOM4_000075 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.451G>A r.(?) p.(Glu151Lys) - VUS g.50378622C>T g.50635622C>T SHROOM4(NM_020717.3):c.451G>A (p.E151K) - SHROOM4_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.503C>T r.(?) p.(Ala168Val) - likely benign g.50378570G>A g.50635570G>A SHROOM4(NM_020717.3):c.503C>T (p.A168V) - SHROOM4_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.630G>T r.(?) p.(Glu210Asp) - VUS g.50378443C>A g.50635443C>A SHROOM4(NM_020717.3):c.630G>T (p.E210D) - SHROOM4_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.689G>A r.(?) p.(Arg230Gln) - likely benign g.50378384C>T g.50635384C>T SHROOM4(NM_020717.3):c.689G>A (p.R230Q) - SHROOM4_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.725G>A r.(?) p.(Arg242His) - likely benign g.50378348C>T - SHROOM4(NM_020717.3):c.725G>A (p.R242H) - SHROOM4_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.731A>G r.(?) p.(Asn244Ser) - likely benign g.50378342T>C g.50635342T>C SHROOM4(NM_020717.3):c.731A>G (p.N244S) - SHROOM4_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.839G>A r.(?) p.(Arg280Gln) - likely benign g.50378234C>T g.50635234C>T SHROOM4(NM_020717.3):c.839G>A (p.(Arg280Gln)) - SHROOM4_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1053C>A r.(?) p.(Ser351Arg) - VUS g.50378020G>T g.50635020G>T SHROOM4(NM_020717.3):c.1053C>A (p.S351R, p.(Ser351Arg)) - SHROOM4_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1053C>A r.(?) p.(Ser351Arg) - likely benign g.50378020G>T g.50635020G>T SHROOM4(NM_020717.3):c.1053C>A (p.S351R, p.(Ser351Arg)) - SHROOM4_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1068G>T r.(?) p.(Glu356Asp) - likely benign g.50378005C>A g.50635005C>A SHROOM4(NM_020717.3):c.1068G>T (p.E356D) - SHROOM4_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1135G>A r.(?) p.(Val379Met) - VUS g.50377938C>T g.50634938C>T - - SHROOM4_000074 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.1229A>G r.(?) p.(His410Arg) - VUS g.50377844T>C g.50634844T>C SHROOM4(NM_020717.3):c.1229A>G (p.H410R) - SHROOM4_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 4 c.1315G>A r.(?) p.(Val439Ile) - likely benign g.50377758C>T g.50634758C>T - - SHROOM4_000013 - PubMed: Harel 2016, Journal: Harel 2016 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.1315G>A r.(?) p.(Val439Ile) - likely benign g.50377758C>T g.50634758C>T SHROOM4(NM_020717.3):c.1315G>A (p.V439I) - SHROOM4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.1358G>A r.(?) p.(Ser453Asn) - likely benign g.50377715C>T g.50634715C>T SHROOM4(NM_020717.3):c.1358G>A (p.S453N) - SHROOM4_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.1387C>A r.(?) p.(Pro463Thr) - likely benign g.50377686G>T g.50634686G>T SHROOM4(NM_020717.3):c.1387C>A (p.P463T) - SHROOM4_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1541G>T r.(?) p.(Arg514Ile) - likely benign g.50377532C>A g.50634532C>A SHROOM4(NM_020717.3):c.1541G>T (p.R514I) - SHROOM4_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1568C>A r.(?) p.(Ala523Asp) - likely benign g.50377505G>T g.50634505G>T SHROOM4(NM_020717.3):c.1568C>A (p.A523D) - SHROOM4_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1675G>A r.(?) p.(Glu559Lys) - likely benign g.50377398C>T g.50634398C>T SHROOM4(NM_020717.3):c.1675G>A (p.E559K) - SHROOM4_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1879C>T r.(?) p.(Pro627Ser) - benign g.50377194G>A g.50634194G>A SHROOM4(NM_020717.3):c.1879C>T (p.P627S, p.(Pro627Ser)) - SHROOM4_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1879C>T r.(?) p.(Pro627Ser) - VUS g.50377194G>A g.50634194G>A - - SHROOM4_000055 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - Lucy Raymond
-?/. - c.1879C>T r.(?) p.(Pro627Ser) - likely benign g.50377194G>A g.50634194G>A SHROOM4(NM_020717.3):c.1879C>T (p.P627S, p.(Pro627Ser)) - SHROOM4_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1972A>G r.(?) p.(Met658Val) - benign g.50377101T>C g.50634101T>C SHROOM4(NM_020717.3):c.1972A>G (p.M658V, p.(Met658Val)) - SHROOM4_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1972A>G r.(?) p.(Met658Val) - likely benign g.50377101T>C g.50634101T>C SHROOM4(NM_020717.3):c.1972A>G (p.M658V, p.(Met658Val)) - SHROOM4_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2007C>A r.(?) p.(Ser669Arg) - VUS g.50377066G>T g.50634066G>T SHROOM4(NM_020717.3):c.2007C>A (p.S669R) - SHROOM4_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2165G>A r.(?) p.(Arg722His) - likely benign g.50376908C>T g.50633908C>T SHROOM4(NM_020717.3):c.2165G>A (p.R722H, p.(Arg722His)) - SHROOM4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.2165G>A r.(?) p.(Arg722His) - benign g.50376908C>T g.50633908C>T SHROOM4(NM_020717.3):c.2165G>A (p.R722H, p.(Arg722His)) - SHROOM4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2165G>A r.(?) p.(Arg722His) - VUS g.50376908C>T g.50633908C>T SHROOM4(NM_020717.3):c.2165G>A (p.R722H, p.(Arg722His)) - SHROOM4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.2173C>T r.(?) p.(His725Tyr) - benign g.50376900G>A g.50633900G>A SHROOM4(NM_020717.3):c.2173C>T (p.H725Y) - SHROOM4_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2180G>A r.(?) p.(Arg727Lys) - likely benign g.50376893C>T g.50633893C>T SHROOM4(NM_020717.3):c.2180G>A (p.(Arg727Lys)) - SHROOM4_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.2181A>T r.(?) p.(Arg727Ser) - VUS g.50376892T>A g.50633892T>A SHROOM4(NM_020717.3):c.2181A>T (p.R727S) - SHROOM4_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2192A>G r.(?) p.(Glu731Gly) - likely benign g.50376881T>C g.50633881T>C SHROOM4(NM_020717.3):c.2192A>G (p.E731G) - SHROOM4_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.2192A>G r.(?) p.(Glu731Gly) - likely benign g.50376881T>C g.50633881T>C SHROOM4(NM_020717.3):c.2192A>G (p.E731G) - SHROOM4_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2228A>C r.(?) p.(Glu743Ala) - likely benign g.50376845T>G g.50633845T>G SHROOM4(NM_020717.3):c.2228A>C (p.E743A) - SHROOM4_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2266G>A r.(?) p.(Ala756Thr) - likely benign g.50376807C>T g.50633807C>T SHROOM4(NM_020717.3):c.2266G>A (p.(Ala756Thr)) - SHROOM4_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2339G>A r.(?) p.(Ser780Asn) - likely benign g.50376734C>T g.50633734C>T SHROOM4(NM_020717.3):c.2339G>A (p.S780N) - SHROOM4_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2416C>T r.(?) p.(Pro806Ser) - likely benign g.50376657G>A g.50633657G>A SHROOM4(NM_020717.3):c.2416C>T (p.P806S) - SHROOM4_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2419A>G r.(?) p.(Ile807Val) - likely benign g.50376654T>C g.50633654T>C SHROOM4(NM_020717.3):c.2419A>G (p.(Ile807Val)) - SHROOM4_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2669G>A r.(?) p.(Cys890Tyr) - VUS g.50376404C>T g.50633404C>T - - SHROOM4_000073 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.2713T>C r.(?) p.(Ser905Pro) - likely benign g.50376360A>G g.50633360A>G - - SHROOM4_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.2931A>G r.(?) p.(Gly977=) - likely benign g.50370640T>C - SHROOM4(NM_020717.3):c.2931A>G (p.G977=) - SHROOM4_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2958-338A>G r.(=) p.(=) - VUS g.50351522T>C g.50608522T>C - - SHROOM4_000019 - - - - Germline - - - - - Yu Sun
?/. - c.2958-338A>G r.(=) p.(=) - VUS g.50351522T>C g.50608522T>C - - SHROOM4_000019 - - - - Germline - - - - - Yu Sun
-?/. - c.2983T>G r.(?) p.(Phe995Val) - likely benign g.50351159A>C g.50608159A>C SHROOM4(NM_020717.3):c.2983T>G (p.(Phe995Val)) - SHROOM4_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3104A>C r.(?) p.(Glu1035Ala) - likely benign g.50351038T>G g.50608038T>G SHROOM4(NM_020717.3):c.3104A>C (p.E1035A) - SHROOM4_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3141C>T r.(?) p.(Ala1047=) - likely benign g.50351001G>A g.50608001G>A SHROOM4(NM_020717.3):c.3141C>T (p.A1047=) - SHROOM4_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3168T>C r.(=) p.(=) - VUS g.50350974A>G g.50607974A>G R1056R - SHROOM4_000072 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.3240C>A r.(?) p.(Leu1080=) - likely benign g.50350902G>T g.50607902G>T SHROOM4(NM_020717.3):c.3240C>A (p.L1080=) - SHROOM4_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3367C>G r.(?) p.(Gln1123Glu) - likely benign g.50350775G>C g.50607775G>C SHROOM4(NM_020717.3):c.3367C>G (p.Q1123E) - SHROOM4_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 6 c.3373_3384dup r.(?) p.(Gln1125_Gln1128dup) - VUS g.50350758_50350769dup g.50607758_50607769dup 3383_3383dup - SHROOM4_000069 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - Lucy Raymond
-/. - c.3411_3413del r.(?) p.(Glu1151del) - benign g.50350748_50350750del - SHROOM4(NM_020717.3):c.3411_3413delGGA (p.E1151del) - SHROOM4_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.3411_3413dup r.(?) p.(Glu1151dup) - benign g.50350748_50350750dup g.50607748_50607750dup SHROOM4(NM_020717.3):c.3411_3413dupGGA (p.E1151dup) - SHROOM4_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.3413_3414insGG r.(?) p.(Glu1140LysfsTer42) - benign g.50350728_50350729insCC g.50607728_50607729insCC SHROOM4(NM_020717.3):c.3413_3414insGG (p.E1140Kfs*42) - SHROOM4_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.3413_3414insGG r.(?) p.(Glu1140LysfsTer42) - benign g.50350728_50350729insCC g.50607728_50607729insCC SHROOM4(NM_020717.3):c.3413_3414insGG (p.E1140Kfs*42) - SHROOM4_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3415dup r.(?) p.(Glu1139GlyfsTer39) - likely benign g.50350727dup g.50607727dup SHROOM4(NM_020717.3):c.3415dupG (p.(Glu1139GlyfsTer39)), SHROOM4(NM_020717.3):c.3415dupG (p.E1139Gfs*39) - SHROOM4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.3415dup r.(?) p.(Glu1139GlyfsTer39) - benign g.50350727dup g.50607727dup SHROOM4(NM_020717.3):c.3415dupG (p.(Glu1139GlyfsTer39)), SHROOM4(NM_020717.3):c.3415dupG (p.E1139Gfs*39) - SHROOM4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.3415dup r.(?) p.(Glu1139GlyfsTer39) - benign g.50350727dup g.50607727dup SHROOM4(NM_020717.3):c.3415dupG (p.(Glu1139GlyfsTer39)), SHROOM4(NM_020717.3):c.3415dupG (p.E1139Gfs*39) - SHROOM4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3415dup r.(?) p.(Glu1139GlyfsTer39) - likely benign g.50350727dup g.50607727dup SHROOM4(NM_020717.3):c.3415dupG (p.(Glu1139GlyfsTer39)), SHROOM4(NM_020717.3):c.3415dupG (p.E1139Gfs*39) - SHROOM4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.3416_3417insGGA r.(?) p.(Glu1151dup) - VUS g.50350727_50350728insCTC g.50607727_50607728insCTC SHROOM4(NM_020717.3):c.3416_3417insGGA (p.(Glu1139dup)) - SHROOM4_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.3417A>G r.(?) p.(Glu1139=) - likely benign g.50350725T>C g.50607725T>C SHROOM4(NM_020717.3):c.3417A>G (p.E1139=) - SHROOM4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.3426_3428del r.(?) p.(Glu1151del) - VUS g.50350728_50350730del g.50607728_50607730del SHROOM4(NM_020717.3):c.3426_3428del (p.?), SHROOM4(NM_020717.3):c.3426_3428delAGA (p.E1151del) - SHROOM4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.3426_3428del r.(?) p.(Glu1151del) - benign g.50350728_50350730del g.50607728_50607730del SHROOM4(NM_020717.3):c.3426_3428del (p.?), SHROOM4(NM_020717.3):c.3426_3428delAGA (p.E1151del) - SHROOM4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.3468A>G r.(=) p.(=) - VUS g.50350674T>C g.50607674T>C E1156E - SHROOM4_000071 recurrent, found 51 times PubMed: Tarpey 2009 - - Germline - 51/208 cases - 0 - Lucy Raymond
-/. - c.3468_3470del r.(?) p.(Glu1158del) - benign g.50350674_50350676del g.50607674_50607676del SHROOM4(NM_020717.3):c.3468_3470delAGA (p.E1158del) - SHROOM4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.3504C>T r.(?) p.(Thr1168=) - likely benign g.50350638G>A g.50607638G>A SHROOM4(NM_020717.3):c.3504C>T (p.T1168=) - SHROOM4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.3611A>G r.(?) p.(Glu1204Gly) - likely benign g.50350531T>C g.50607531T>C SHROOM4(NM_020717.3):c.3611A>G (p.E1204G, p.(Glu1204Gly)) - SHROOM4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.3611A>G r.(?) p.(Glu1204Gly) - likely benign g.50350531T>C - SHROOM4(NM_020717.3):c.3611A>G (p.E1204G, p.(Glu1204Gly)) - SHROOM4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3734C>T r.(?) p.(Ser1245Leu) - likely benign g.50350408G>A g.50607408G>A SHROOM4(NM_020717.3):c.3734C>T (p.(Ser1245Leu)) - SHROOM4_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3762-318G>A r.(=) p.(=) - VUS g.50346131C>T g.50603131C>T - - SHROOM4_000015 - - - - Germline - - - - - Yu Sun
?/. - c.3762-318G>A r.(=) p.(=) - VUS g.50346131C>T g.50603131C>T - - SHROOM4_000015 - - - - Germline - - - - - Yu Sun
+?/. - c.3772C>T r.(?) p.(Gln1258*) - likely benign g.50345803G>A g.50602803G>A - - SHROOM4_000108 variant in 2 unaffected brothers PubMed: Redin 2014 - - Germline no - - 0 - Johan den Dunnen
-?/. - c.3899G>A r.(?) p.(Gly1300Asp) - likely benign g.50345676C>T g.50602676C>T SHROOM4(NM_020717.3):c.3899G>A (p.G1300D) - SHROOM4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.3919G>A r.(?) p.(Asp1307Asn) - VUS g.50345656C>T g.50602656C>T SHROOM4(NM_020717.3):c.3919G>A (p.D1307N) - SHROOM4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.3943-140C>G r.(=) p.(=) - VUS g.50341675G>C g.50598675G>C - - SHROOM4_000012 - - - - Germline - - - - - Yu Sun
?/. - c.3943-140C>G r.(=) p.(=) - VUS g.50341675G>C g.50598675G>C - - SHROOM4_000012 - - - - Germline - - - - - Yu Sun
?/. - c.3943-63C>T r.(=) p.(=) - VUS g.50341598G>A g.50598598G>A - - SHROOM4_000029 - - - - Germline - - - - - Yu Sun
?/. - c.3943-63C>T r.(=) p.(=) - VUS g.50341598G>A g.50598598G>A - - SHROOM4_000029 - - - - Germline - - - - - Yu Sun
-?/. - c.3944T>C r.(?) p.(Ile1315Thr) - likely benign g.50341534A>G g.50598534A>G SHROOM4(NM_020717.3):c.3944T>C (p.I1315T, p.(Ile1315Thr)) - SHROOM4_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3944T>C r.(?) p.(Ile1315Thr) - likely benign g.50341534A>G g.50598534A>G SHROOM4(NM_020717.3):c.3944T>C (p.I1315T, p.(Ile1315Thr)) - SHROOM4_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3944T>C r.(?) p.(Ile1315Thr) - likely benign g.50341534A>G g.50598534A>G SHROOM4(NM_020717.3):c.3944T>C (p.I1315T, p.(Ile1315Thr)) - SHROOM4_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.3988G>A r.(?) p.(Glu1330Lys) - VUS g.50341490C>T g.50598490C>T - - SHROOM4_000070 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-/. - c.4066G>A r.(?) p.(Val1356Ile) - benign g.50341412C>T g.50598412C>T SHROOM4(NM_020717.3):c.4066G>A (p.V1356I) - SHROOM4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.4101G>T r.(?) p.(Leu1367Phe) - benign g.50341377C>A g.50598377C>A SHROOM4(NM_020717.3):c.4101G>T (p.L1367F, p.(Leu1367Phe)) - SHROOM4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.4101G>T r.(?) p.(Leu1367Phe) - VUS g.50341377C>A g.50598377C>A - - SHROOM4_000030 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-/. - c.4101G>T r.(?) p.(Leu1367Phe) - benign g.50341377C>A g.50598377C>A SHROOM4(NM_020717.3):c.4101G>T (p.L1367F, p.(Leu1367Phe)) - SHROOM4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.4101G>T r.(?) p.(Leu1367Phe) - benign g.50341377C>A g.50598377C>A - - SHROOM4_000030 12 heterozygous; Clinindb (India) Faruq 2020, submtted - rs28362302 Germline - 12/2795 individuals - 0 - Mohammed Faruq
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