All transcript variants in gene SALL4

Information The variants shown are described using the NM_020436.3 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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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.-17G>A r.(?) p.(=) - likely benign g.50418964C>T g.51802425C>T SALL4(NM_020436.3):c.-17G>A - SALL4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.269A>G r.(?) p.(His90Arg) - VUS g.50408753T>C g.51792214T>C SALL4(NM_001318031.1):c.269A>G (p.H90R) - SALL4_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.328G>A r.(?) p.(Val110Met) - likely benign g.50408694C>T g.51792155C>T SALL4(NM_001318031.1):c.328G>A (p.V110M) - SALL4_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.496C>T r.(?) p.(Gln166Ter) - pathogenic g.50408526G>A g.51791987G>A SALL4(NM_020436.3):c.496C>T (p.Q166*) - SALL4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.496dup r.(?) p.(Gln166ProfsTer15) - pathogenic g.50408531dup g.51791992dup SALL4(NM_020436.3):c.496dupC (p.Q166Pfs*15) - SALL4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.540T>C r.(?) p.(Asn180=) - benign g.50408482A>G g.51791943A>G SALL4(NM_020436.3):c.540T>C (p.N180=) - SALL4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.540T>C r.(?) p.(Asn180=) - benign g.50408482A>G g.51791943A>G SALL4(NM_020436.3):c.540T>C (p.N180=) - SALL4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.541G>A r.(?) p.(Val181Met) - likely benign g.50408481C>T g.51791942C>T SALL4(NM_001318031.1):c.541G>A (p.V181M) - SALL4_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.575C>A r.(?) p.(Ala192Glu) - VUS g.50408447G>T g.51791908G>T SALL4(NM_020436.3):c.575C>A (p.A192E) - SALL4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.625A>T r.(?) p.(Asn209Tyr) - VUS g.50408397T>A g.51791858T>A SALL4(NM_020436.3):c.625A>T (p.(Asn209Tyr)) - SALL4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.626A>C r.(?) p.(Asn209Thr) - VUS g.50408396T>G g.51791857T>G SALL4(NM_020436.3):c.626A>C (p.(Asn209Thr)) - SALL4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.627C>G r.(?) p.(Asn209Lys) - VUS g.50408395G>C g.51791856G>C SALL4(NM_020436.3):c.627C>G (p.(Asn209Lys)) - SALL4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.645C>G r.(?) p.(Leu215=) - benign g.50408377G>C g.51791838G>C SALL4(NM_020436.3):c.645C>G (p.L215=) - SALL4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.659_660del r.(?) p.(Cys220SerfsTer165) - pathogenic g.50408365_50408366del g.51791826_51791827del SALL4(NM_020436.3):c.659_660delGT (p.C220Sfs*165) - SALL4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.680_681insACATC r.(?) p.(Gln228HisfsTer14) - pathogenic g.50408341_50408342insGATGT g.51791802_51791803insGATGT - - SALL4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.702G>A r.(?) p.(Gln234=) - likely benign g.50408320C>T g.51791781C>T SALL4(NM_001318031.1):c.702G>A (p.Q234=) - SALL4_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.762C>T r.(?) p.(Ala254=) - likely benign g.50408260G>A g.51791721G>A SALL4(NM_001318031.1):c.762C>T (p.A254=) - SALL4_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1056G>A r.(?) p.(Ala352=) - benign g.50407966C>T g.51791427C>T SALL4(NM_020436.3):c.1056G>A (p.A352=) - SALL4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1056G>A r.(?) p.(Ala352=) - benign g.50407966C>T g.51791427C>T SALL4(NM_020436.3):c.1056G>A (p.A352=) - SALL4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1056G>A r.(?) p.(Ala352=) - benign g.50407966C>T g.51791427C>T SALL4(NM_020436.3):c.1056G>A (p.A352=) - SALL4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.1223_1224del r.(?) p.(Arg408ThrfsTer55) - pathogenic g.50407804_50407805del g.51791265_51791266del SALL4(NM_020436.3):c.1223_1224delGA (p.R408Tfs*55) - SALL4_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1248T>G r.(?) p.(Gly416=) - likely benign g.50407774A>C g.51791235A>C SALL4(NM_020436.3):c.1248T>G (p.G416=) - SALL4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1513G>A r.(?) p.(Gly505Ser) - likely benign g.50407509C>T g.51790970C>T SALL4(NM_020436.3):c.1513G>A (p.G505S) - SALL4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1520T>G r.(?) p.(Leu507Arg) - benign g.50407502A>C g.51790963A>C SALL4(NM_020436.3):c.1520T>G (p.L507R) - SALL4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1520T>G r.(?) p.(Leu507Arg) - benign g.50407502A>C g.51790963A>C SALL4(NM_020436.3):c.1520T>G (p.L507R) - SALL4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1520T>G r.(?) p.(Leu507Arg) - benign g.50407502A>C g.51790963A>C SALL4(NM_020436.3):c.1520T>G (p.L507R) - SALL4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.1557C>T r.(?) p.(Pro519=) - benign g.50407465G>A g.51790926G>A SALL4(NM_020436.3):c.1557C>T (p.P519=) - SALL4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1860A>G r.(?) p.(Thr620=) - benign g.50407162T>C g.51790623T>C SALL4(NM_020436.3):c.1860A>G (p.T620=) - SALL4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1860A>G r.(?) p.(Thr620=) - benign g.50407162T>C g.51790623T>C SALL4(NM_020436.3):c.1860A>G (p.T620=) - SALL4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1860A>G r.(?) p.(Thr620=) - benign g.50407162T>C g.51790623T>C SALL4(NM_020436.3):c.1860A>G (p.T620=) - SALL4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1950C>T r.(?) p.(Gly650=) - likely benign g.50407072G>A - SALL4(NM_020436.3):c.1950C>T (p.G650=) - SALL4_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.2009dup r.(?) p.(Met671AsnfsTer5) - pathogenic g.50407014dup g.51790475dup SALL4(NM_020436.3):c.2009dupC (p.M671Nfs*5) - SALL4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2037C>T r.(?) p.(Thr679=) - benign g.50406985G>A g.51790446G>A SALL4(NM_020436.3):c.2037C>T (p.T679=) - SALL4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.2037C>T r.(?) p.(Thr679=) - benign g.50406985G>A g.51790446G>A SALL4(NM_020436.3):c.2037C>T (p.T679=) - SALL4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.2037C>T r.(?) p.(Thr679=) - benign g.50406985G>A g.51790446G>A SALL4(NM_020436.3):c.2037C>T (p.T679=) - SALL4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2057_2059del r.(?) p.(Asp686del) - likely benign g.50406969_50406971del g.51790430_51790432del SALL4(NM_020436.3):c.2057_2059del (p.(Asp686del)), SALL4(NM_020436.3):c.2057_2059delATG (p.D686del) - SALL4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.2057_2059del r.(?) p.(Asp686del) - likely benign g.50406969_50406971del g.51790430_51790432del SALL4(NM_020436.3):c.2057_2059del (p.(Asp686del)), SALL4(NM_020436.3):c.2057_2059delATG (p.D686del) - SALL4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2215G>T r.(?) p.(Ala739Ser) - likely benign g.50406807C>A g.51790268C>A SALL4(NM_020436.3):c.2215G>T (p.A739S) - SALL4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.2215G>T r.(?) p.(Ala739Ser) - likely benign g.50406807C>A g.51790268C>A SALL4(NM_020436.3):c.2215G>T (p.A739S) - SALL4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2260G>A r.(?) p.(Val754Met) - VUS g.50406762C>T g.51790223C>T SALL4(NM_020436.3):c.2260G>A (p.V754M) - SALL4_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2290T>C r.(?) p.(Ser764Pro) - VUS g.50406732A>G g.51790193A>G SALL4(NM_020436.3):c.2290T>C (p.S764P, p.(Ser764Pro)) - SALL4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2290T>C r.(?) p.(Ser764Pro) - likely benign g.50406732A>G g.51790193A>G SALL4(NM_020436.3):c.2290T>C (p.S764P, p.(Ser764Pro)) - SALL4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.2318A>G r.(?) p.(Gln773Arg) - likely benign g.50406704T>C g.51790165T>C SALL4(NM_020436.3):c.2318A>G (p.Q773R) - SALL4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2392A>C r.(?) p.(Ile798Leu) - benign g.50406630T>G g.51790091T>G SALL4(NM_020436.3):c.2392A>C (p.I798L) - SALL4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2449A>G r.(?) p.(Thr817Ala) - likely benign g.50406573T>C g.51790034T>C SALL4(NM_020436.3):c.2449A>G (p.T817A) - SALL4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.2477del r.(?) p.(Pro826LeufsTer30) - pathogenic g.50405667del g.51789128del SALL4(NM_020436.3):c.2477delC (p.P826Lfs*30) - SALL4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2483C>T r.(?) p.(Thr828Met) - likely benign g.50405659G>A g.51789120G>A SALL4(NM_020436.3):c.2483C>T (p.(Thr828Met)) - SALL4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.2623_2630dup r.(?) p.(Lys877AsnfsTer40) - pathogenic g.50405512_50405519dup g.51788973_51788980dup SALL4(NM_020436.3):c.2623_2630dupTGTGGGAA (p.K877Nfs*40) - SALL4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2640G>C r.(?) p.(Ser880=) - benign g.50405502C>G g.51788963C>G SALL4(NM_020436.3):c.2640G>C (p.S880=) - SALL4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.2640G>C r.(?) p.(Ser880=) - benign g.50405502C>G g.51788963C>G SALL4(NM_020436.3):c.2640G>C (p.S880=) - SALL4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.2833G>A r.(?) p.(Asp945Asn) - VUS g.50401133C>T g.51784594C>T SALL4(NM_001318031.1):c.1522G>A (p.D508N), SALL4(NM_020436.3):c.2833G>A (p.(Asp945Asn)) - SALL4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.2833G>A r.(?) p.(Asp945Asn) - VUS g.50401133C>T - SALL4(NM_001318031.1):c.1522G>A (p.D508N), SALL4(NM_020436.3):c.2833G>A (p.(Asp945Asn)) - SALL4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.3031G>A r.(?) p.(Ala1011Thr) - likely benign g.50400935C>T g.51784396C>T SALL4(NM_020436.3):c.3031G>A (p.(Ala1011Thr)) - SALL4_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3096T>C r.(?) p.(Ala1032=) - likely benign g.50400870A>G g.51784331A>G SALL4(NM_001318031.1):c.1785T>C (p.A595=) - SALL4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3103G>A r.(?) p.(Gly1035Ser) - likely benign g.50400863C>T g.51784324C>T SALL4(NM_020436.3):c.3103G>A (p.(Gly1035Ser)) - SALL4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/. - c.3152C>T r.(?) p.(Ala1051Val) - pathogenic g.50400814G>A g.51784275G>A SALL4(NM_020436.3):c.3152C>T (p.A1051V) - SALL4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.3158G>A r.(?) p.(Ser1053Asn) - likely benign g.50400808C>T g.51784269C>T SALL4(NM_020436.3):c.3158G>A (p.(Ser1053Asn)) - SALL4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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