Full data view for gene SALL1

Information The variants shown are described using the NM_002968.2 transcript reference sequence.

291 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.= r.? p.? Unknown - pathogenic (dominant) g.(51381183_51385183)_qterdelins[NC_000005.9:(4500001_9800000)inv] g.(51347272_51351272)_qterdelins[NC_000005.10(4400001_9900000)inv] - t(5;16)(p15.3;q12.1) SALL1_000000 translocation 180kb upstream of SALL1, predicted to give a position effect on expression PubMed: Marlin 1999 - - De novo - - - - - DNA FISH, microscope - - TBS patient;TB12 PubMed: Serville 1993, PubMed: Marlin 1999 sporadic patient - - France - - - - - 1 Johan den Dunnen
-?/. - c.30A>G r.(?) p.(=) Unknown - likely benign g.51185123T>C - SALL1(NM_002968.2):c.30A>G (p.Q10=) - SALL1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.76+36_76+37del r.(=) p.(=) Unknown - benign g.51185050_51185051del g.51151139_51151140del SALL1(NM_002968.2):c.76+36_76+37delAC - SALL1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.109A>T r.(?) p.(Thr37Ser) Unknown - likely benign g.51176024T>A - SALL1(NM_002968.2):c.109A>T (p.T37S) - SALL1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.117_130del r.(?) p.(Lys40Leufs*10) Unknown - VUS g.51176004_51176017del - SALL1(NM_002968.2):c.117_130delCAAGGATGCCCACG (p.(Lys40fs)) - SALL1_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.129C>T r.(?) p.(His43=) Unknown - likely benign g.51176004G>A g.51142093G>A SALL1(NM_002968.2):c.129C>T (p.H43=) - SALL1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.174_176del r.(?) p.(Leu60del) Unknown - VUS g.51175960_51175962del - SALL1(NM_002968.3):c.174_176del (p.(Leu60del)) - SALL1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.207del r.(?) p.(Gln69HisfsTer2) Unknown - pathogenic g.51175927del g.51142016del SALL1(NM_002968.2):c.207delA (p.Q69Hfs*2) - SALL1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.220G>A r.(?) p.(Val74Ile) Unknown - likely benign g.51175913C>T - SALL1(NM_002968.2):c.220G>A (p.V74I) - SALL1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.235G>C r.(?) p.(Ala79Pro) Unknown - likely benign g.51175898C>G g.51141987C>G SALL1(NM_001127892.1):c.-57G>C (p.(=)), SALL1(NM_002968.2):c.235G>C (p.A79P) - SALL1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.235G>C r.(?) p.(Ala79Pro) Unknown - likely benign g.51175898C>G g.51141987C>G SALL1(NM_001127892.1):c.-57G>C (p.(=)), SALL1(NM_002968.2):c.235G>C (p.A79P) - SALL1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.235G>C r.(?) p.(Ala79Pro) Unknown - likely benign g.51175898C>G - SALL1(NM_001127892.1):c.-57G>C (p.(=)), SALL1(NM_002968.2):c.235G>C (p.A79P) - SALL1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.239C>A r.(?) p.(Ser80Tyr) Unknown - likely benign g.51175894G>T g.51141983G>T SALL1(NM_001127892.1):c.-53C>A (p.(=)) - SALL1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.281C>T r.(?) p.(Pro94Leu) Unknown - VUS g.51175852G>A - SALL1(NM_002968.2):c.281C>T (p.P94L) - SALL1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.286G>T r.(?) p.(Glu96*) Unknown ACMG pathogenic g.51175847C>A g.51141936C>A - - SALL1_000139 - - ClinVar-4795788 - Germline - - - - - DNA SEQ-NG-I peripheral blood WES ? - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
-/. - c.292A>G r.(?) p.(Met98Val) Unknown - benign g.51175841T>C g.51141930T>C SALL1(NM_002968.2):c.292A>G (p.M98V) - SALL1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.301A>G r.(?) p.(Thr101Ala) Unknown - VUS g.51175832T>C - SALL1(NM_002968.3):c.301A>G (p.(Thr101Ala)) - SALL1_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.313del r.(?) p.(Thr105GlnfsTer78) Unknown - pathogenic (dominant) g.51175823del g.51141912del 313delA - SALL1_000198 - PubMed: Botzenhart 2007 - - Germline/De novo (untested) - - - - - DNA SEQ - - TBS Pat1 PubMed: Botzenhart 2007 patient F - - - - - - - 1 Johan den Dunnen
+/. - c.364G>T r.(?) p.(Glu122*) Unknown - pathogenic g.51175769C>A - - - SALL1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.379G>C r.(?) p.(Val127Leu) Unknown - likely benign g.51175754C>G - SALL1(NM_001127892.1):c.88G>C (p.(Val30Leu)) - SALL1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.389C>T r.(?) p.(Pro130Leu) Unknown - VUS g.51175744G>A g.51141833G>A SALL1(NM_001127892.1):c.98C>T (p.(Pro33Leu)) - SALL1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.390G>A r.(?) p.(Pro130=) Unknown - benign g.51175743C>T g.51141832C>T SALL1(NM_002968.2):c.390G>A (p.P130=), SALL1(NM_002968.3):c.390G>A (p.(Pro130=)) - SALL1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.390G>A r.(?) p.(Pro130=) Unknown - likely benign g.51175743C>T - SALL1(NM_002968.2):c.390G>A (p.P130=), SALL1(NM_002968.3):c.390G>A (p.(Pro130=)) - SALL1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.400_411dup r.(?) p.(Lys134_Ser137dup) Paternal (confirmed) ACMG benign (dominant) g.51175723_51175734dup g.51141812_51141823dup - - SALL1_000096 ACMG BS1, BS2, PP3 PubMed: Estandia-Ortega 2022 - rs750817837 Germline no 1/49 patients - - - DNA SEQ-NG-I gDNA from peripheral blood gene-panel sequencing OAS EFAV_156 PubMed: Estandia-Ortega 2022 1 patient M no Mexico - - - - none 1 Miriam Erandi Reyna-Fabián
-?/. - c.411C>T r.(?) p.(Ser137=) Unknown - likely benign g.51175722G>A g.51141811G>A SALL1(NM_001127892.1):c.120C>T (p.S40=), SALL1(NM_002968.2):c.411C>T (p.S137=) - SALL1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.411C>T r.(?) p.(Ser137=) Unknown - likely benign g.51175722G>A - SALL1(NM_001127892.1):c.120C>T (p.S40=), SALL1(NM_002968.2):c.411C>T (p.S137=) - SALL1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.420del r.(?) p.(Ser141AlafsTer42) Unknown - pathogenic (dominant) g.51175714del g.51141803del 419delC - SALL1_000197 - PubMed: Kohlhase 1999 - - Germline/De novo (untested) - - - - - DNA SEQ - - TBS Fam9Pat1 PubMed: Kohlhase 1999 2-generation family, 1 affected, unaffected parents M - - - - - - - 1 Johan den Dunnen
+/. - c.441dup r.(?) p.(Ala148ArgfsTer122) Unknown - pathogenic g.51175693dup g.51141782dup - - SALL1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.460_477dup r.(?) p.(Ser154_Ser159dup) Unknown - VUS g.51175668_51175685dup - SALL1(NM_002968.3):c.460_477dup (p.(Ser154_Ser159dup)) - SALL1_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.466_477dup r.(?) p.(Ser156_Ser159dup) Unknown - VUS g.51175674_51175685dup - SALL1(NM_002968.3):c.466_477dup (p.(Ser156_Ser159dup)) - SALL1_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.469_477del r.(?) p.(Ser157_Ser159del) Unknown - likely benign g.51175677_51175685del g.51141766_51141774del SALL1(NM_001127892.1):c.178_186del (p.(Ser60_Ser62del)), SALL1(NM_001127892.2):c.178_186delAGCAGCAGC (p.S60_S62del), SALL1(NM_002968.2):c.469_477de... - SALL1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.469_477del r.(?) p.(Ser157_Ser159del) Unknown - likely benign g.51175677_51175685del g.51141766_51141774del SALL1(NM_001127892.1):c.178_186del (p.(Ser60_Ser62del)), SALL1(NM_001127892.2):c.178_186delAGCAGCAGC (p.S60_S62del), SALL1(NM_002968.2):c.469_477de... - SALL1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.469_477del r.(?) p.(Ser157_Ser159del) Unknown - likely benign g.51175677_51175685del g.51141766_51141774del SALL1(NM_001127892.1):c.178_186del (p.(Ser60_Ser62del)), SALL1(NM_001127892.2):c.178_186delAGCAGCAGC (p.S60_S62del), SALL1(NM_002968.2):c.469_477de... - SALL1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.469_477del r.(?) p.(Ser157_Ser159del) Unknown - likely benign g.51175677_51175685del - SALL1(NM_001127892.1):c.178_186del (p.(Ser60_Ser62del)), SALL1(NM_001127892.2):c.178_186delAGCAGCAGC (p.S60_S62del), SALL1(NM_002968.2):c.469_477de... - SALL1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.469_477dup r.(?) p.(Ser157_Ser159dup) Unknown - VUS g.51175677_51175685dup g.51141766_51141774dup SALL1(NM_001127892.1):c.186_187insAGCAGCAGC (p.(Ser60_Ser62dup)), SALL1(NM_001127892.2):c.172_180dupAGCAGCAGC (p.S60_S62dup), SALL1(NM_002968.2):c.... - SALL1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.469_477dup r.(?) p.(Ser157_Ser159dup) Unknown - benign g.51175677_51175685dup g.51141766_51141774dup SALL1(NM_001127892.1):c.186_187insAGCAGCAGC (p.(Ser60_Ser62dup)), SALL1(NM_001127892.2):c.172_180dupAGCAGCAGC (p.S60_S62dup), SALL1(NM_002968.2):c.... - SALL1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.469_477dup r.(?) p.(Ser157_Ser159dup) Unknown - likely benign g.51175677_51175685dup g.51141766_51141774dup SALL1(NM_001127892.1):c.186_187insAGCAGCAGC (p.(Ser60_Ser62dup)), SALL1(NM_001127892.2):c.172_180dupAGCAGCAGC (p.S60_S62dup), SALL1(NM_002968.2):c.... - SALL1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.472A>C r.(?) p.(Ser158Arg) Unknown - likely benign g.51175661T>G - SALL1(NM_002968.2):c.472A>C (p.(Ser158Arg)) - SALL1_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.472A>G r.(?) p.(Ser158Gly) Unknown - VUS g.51175661T>C g.51141750T>C SALL1(NM_001127892.1):c.181A>G (p.(Ser61Gly)) - SALL1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.472del r.(?) p.(Ser158Alafs*25) Unknown - VUS g.51175661del - SALL1(NM_002968.3):c.472del (p.(Ser158AlafsTer25)) - SALL1_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.472_477del r.(?) p.(Ser158_Ser159del) Unknown - VUS g.51175680_51175685del - SALL1(NM_001127892.1):c.181_186del (p.(Ser61_Ser62del)) - SALL1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.472_477dup r.(?) p.(Ser158_Ser159dup) Unknown - benign g.51175680_51175685dup g.51141769_51141774dup SALL1(NM_001127892.1):c.181_186dupAGCAGC (p.S61_S62dup), SALL1(NM_001127892.1):c.183_184insAGCAGC (p.(Ser61_Ser62dup)), SALL1(NM_002968.2):c.466_47... - SALL1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.472_477dup r.(?) p.(Ser158_Ser159dup) Unknown - likely benign g.51175680_51175685dup - SALL1(NM_001127892.1):c.181_186dupAGCAGC (p.S61_S62dup), SALL1(NM_001127892.1):c.183_184insAGCAGC (p.(Ser61_Ser62dup)), SALL1(NM_002968.2):c.466_47... - SALL1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.472_477dup r.(?) p.(Ser158_Ser159dup) Unknown - benign g.51175680_51175685dup - SALL1(NM_001127892.1):c.181_186dupAGCAGC (p.S61_S62dup), SALL1(NM_001127892.1):c.183_184insAGCAGC (p.(Ser61_Ser62dup)), SALL1(NM_002968.2):c.466_47... - SALL1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.472_477dup r.(?) p.(Ser158_Ser159dup) Unknown - likely benign g.51175680_51175685dup - SALL1(NM_001127892.1):c.181_186dupAGCAGC (p.S61_S62dup), SALL1(NM_001127892.1):c.183_184insAGCAGC (p.(Ser61_Ser62dup)), SALL1(NM_002968.2):c.466_47... - SALL1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.474_475del r.(?) p.(Ser158Argfs*111) Unknown - VUS g.51175658_51175659del - SALL1(NM_002968.3):c.474_475del (p.(Ser158ArgfsTer111)) - SALL1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.475A>G r.(?) p.(Ser159Gly) Unknown - benign g.51175658T>C g.51141747T>C SALL1(NM_002968.2):c.475A>G (p.S159G, p.(Ser159Gly)) - SALL1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.475A>G r.(?) p.(Ser159Gly) Parent #1 ACMG benign g.51175658T>C g.51141747T>C - - SALL1_000043 ACMG BA1, BP1, BP4, BP6 PubMed: Estandia-Ortega 2022 VCV000258875.3 rs13336129 Germline/De novo (untested) ? 4/49 patients (4 heterozygous) - - - DNA SEQ-NG-I gDNA from peripheral blood gene-panel sequencing OAS EFAV_45 PubMed: Estandia-Ortega 2022 4 patients (4 male) M no Mexico - - - - none 1 Miriam Erandi Reyna-Fabián
-?/. - c.475A>G r.(?) p.(Ser159Gly) Unknown - likely benign g.51175658T>C - SALL1(NM_002968.2):c.475A>G (p.S159G, p.(Ser159Gly)) - SALL1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.475A>G r.(?) p.(Ser159Gly) Both (homozygous) - benign g.51175658T>C g.51141747T>C - - SALL1_000043 - PubMed: Kohlhase 1999 - - Germline - - - - - DNA SEQ - - Healthy/Control control PubMed: Kohlhase 1999 - - - - - - - - - 1 Johan den Dunnen
+/. - c.475A>G r.475A>G p.Ser159Gly Unknown - benign g.51175658T>C g.51141747T>C - - SALL1_000043 - PubMed: Marlin 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control control PubMed: Marlin 1999 control - - France - - - - - 1 Johan den Dunnen
-/. - c.475_477del r.(?) p.(Ser159del) Unknown - benign g.51175683_51175685del g.51141772_51141774del SALL1(NM_001127892.1):c.184_186del (p.(Ser62del)), SALL1(NM_002968.2):c.475_477delAGC (p.S159del) - SALL1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.475_477del r.(?) p.(Ser159del) Unknown - likely benign g.51175683_51175685del g.51141772_51141774del SALL1(NM_001127892.1):c.184_186del (p.(Ser62del)), SALL1(NM_002968.2):c.475_477delAGC (p.S159del) - SALL1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.475_477del r.(?) p.(Ser159del) Parent #1 ACMG benign (dominant) g.51175656_51175658del g.51141772_51141774del - - SALL1_000040 ACMG BS1, BS2, PP3 PubMed: Estandia-Ortega 2022 - rs113614842 Germline no 5/49 patients (5 heterozygous) - - - DNA SEQ-NG-I gDNA from peripheral blood gene-panel sequencing OAS EFAV_107 PubMed: Estandia-Ortega 2022 5 patients (3 male, 2 female) F likely Mexico - - - - none 1 Miriam Erandi Reyna-Fabián
-/. - c.475_477del r.(?) p.(Ser159del) Unknown - benign g.51175683_51175685del - SALL1(NM_001127892.1):c.184_186del (p.(Ser62del)), SALL1(NM_002968.2):c.475_477delAGC (p.S159del) - SALL1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.475_477del r.(?) p.(Ser159del) Parent #1 - benign g.51175683_51175685del g.51141772_51141774del 448_450delAGC - SALL1_000040 - PubMed: Kohlhase 1999 - - Germline - - - - - DNA SEQ - - Healthy/Control control PubMed: Kohlhase 1999 - - - - - - - - - 1 Johan den Dunnen
-/. - c.475_477dup r.(?) p.(Ser159dup) Unknown - benign g.51175683_51175685dup g.51141772_51141774dup SALL1(NM_001127892.1):c.178_180dup (p.(Ser62dup)), SALL1(NM_001127892.2):c.184_186dupAGC (p.S62dup), SALL1(NM_002968.2):c.475_477dupAGC (p.S159dup) - SALL1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.475_477dup r.(?) p.(Ser159dup) Unknown - benign g.51175683_51175685dup g.51141772_51141774dup SALL1(NM_001127892.1):c.178_180dup (p.(Ser62dup)), SALL1(NM_001127892.2):c.184_186dupAGC (p.S62dup), SALL1(NM_002968.2):c.475_477dupAGC (p.S159dup) - SALL1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.475_477dup r.(?) p.(Ser159dup) Unknown - benign g.51175683_51175685dup g.51141772_51141774dup SALL1(NM_001127892.1):c.178_180dup (p.(Ser62dup)), SALL1(NM_001127892.2):c.184_186dupAGC (p.S62dup), SALL1(NM_002968.2):c.475_477dupAGC (p.S159dup) - SALL1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.475_477dup r.(?) p.(Ser159dup) Unknown - likely benign g.51175683_51175685dup g.51141772_51141774dup SALL1(NM_001127892.1):c.178_180dup (p.(Ser62dup)), SALL1(NM_001127892.2):c.184_186dupAGC (p.S62dup), SALL1(NM_002968.2):c.475_477dupAGC (p.S159dup) - SALL1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.475_477dup r.(?) p.(Ser159dup) Both (homozygous) - benign g.51175683_51175685dup g.51141772_51141774dup 447_448insAGC - SALL1_000080 - PubMed: Kohlhase 1999 - - Germline - - - - - DNA SEQ - - Healthy/Control control PubMed: Kohlhase 1999 - - - - - - - - - 1 Johan den Dunnen
+/. - c.475_477dup r.475_477dup p.Ser159dup Unknown - benign g.51175683_51175685dup g.51141772_51141774dup 477-478insAGC - SALL1_000080 - PubMed: Marlin 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control control PubMed: Marlin 1999 control - - France - - - - - 1 Johan den Dunnen
-?/. - c.477_478insAGCGGC r.(?) p.(Ser159_Gly160insSerGly) Unknown - likely benign g.51175657_51175658insCGCTGC g.51141746_51141747insCGCTGC SALL1(NM_001127892.1):c.184_185insGCAGCG (p.(Ser62_Gly63insSerGly)), SALL1(NM_001127892.2):c.186_187insAGCGGC (p.S62_G63insSG) - SALL1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.477_478insAGCGGC r.(?) p.(Ser159_Gly160insSerGly) Unknown - likely benign g.51175657_51175658insCGCTGC g.51141746_51141747insCGCTGC SALL1(NM_001127892.1):c.184_185insGCAGCG (p.(Ser62_Gly63insSerGly)), SALL1(NM_001127892.2):c.186_187insAGCGGC (p.S62_G63insSG) - SALL1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.478G>A r.(?) p.(Gly160Ser) Unknown - likely benign g.51175655C>T g.51141744C>T SALL1(NM_001127892.1):c.187G>A (p.(Gly63Ser)), SALL1(NM_002968.2):c.478G>A (p.G160S) - SALL1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.478G>A r.(?) p.(Gly160Ser) Unknown - likely benign g.51175655C>T - SALL1(NM_001127892.1):c.187G>A (p.(Gly63Ser)), SALL1(NM_002968.2):c.478G>A (p.G160S) - SALL1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.487_489dup r.(?) p.(Gly163dup) Unknown - VUS g.51175655_51175657dup g.51141744_51141746dup SALL1(NM_001127892.2):c.196_198dupGGC (p.G66dup) - SALL1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.490_492del r.490_492del p.Ser166del Unknown - benign g.51175643_51175645del g.51141732_51141734del 490-492delAGC - SALL1_000196 - PubMed: Marlin 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control control PubMed: Marlin 1999 control - - France - - - - - 1 Johan den Dunnen
-?/. - c.537C>T r.(?) p.(Leu179=) Unknown - likely benign g.51175596G>A g.51141685G>A SALL1(NM_001127892.1):c.246C>T (p.L82=) - SALL1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.549A>G r.(?) p.(Thr183=) Unknown - likely benign g.51175584T>C - SALL1(NM_001127892.1):c.258A>G (p.T86=), SALL1(NM_002968.3):c.549A>G (p.(Thr183=)) - SALL1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.549A>G r.(?) p.(Thr183=) Unknown - likely benign g.51175584T>C - SALL1(NM_001127892.1):c.258A>G (p.T86=), SALL1(NM_002968.3):c.549A>G (p.(Thr183=)) - SALL1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.591C>T r.(?) p.(Ile197=) Unknown - VUS g.51175542G>A g.51141631G>A - - SALL1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.652G>A r.(?) p.(Gly218Arg) Unknown - VUS g.51175481C>T - SALL1(NM_002968.2):c.652G>A (p.(Gly218Arg)) - SALL1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.712C>T r.(?) p.(Gln238*) Unknown - pathogenic g.51175421G>A - - - SALL1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.764del r.(?) p.(Leu255CysfsTer31) Unknown - pathogenic (dominant) g.51175370del g.51141459del 764delT - SALL1_000195 - PubMed: Botzenhart 2005 - - Germline - - - - - DNA SEQ - - TBS FamAPat1 PubMed: Botzenhart 2005 2-generation family, affected son/father M - - - - - - - 2 Johan den Dunnen
+/. - c.764del r.(?) p.(Leu255CysfsTer31) Unknown - pathogenic (dominant) g.51175370del g.51141459del 764delT - SALL1_000195 - PubMed: Botzenhart 2005 - - Germline/De novo (untested) - - - - - DNA SEQ - - TBS FamAPat2 PubMed: Botzenhart 2005 father M - - - - - - - 1 Johan den Dunnen
+/. - c.778C>T r.(?) p.(Gln260Ter) Unknown - pathogenic (dominant) g.51175355G>A g.51141444G>A - - SALL1_000194 - PubMed: Botzenhart 2005 - - Germline - - - - - DNA SEQ - - TBS FamBPat1 PubMed: Botzenhart 2005 2-generation family, affected child/mother - - - - - - - - 2 Johan den Dunnen
+/. - c.778C>T r.(?) p.(Gln260Ter) Unknown - pathogenic (dominant) g.51175355G>A g.51141444G>A - - SALL1_000194 - PubMed: Botzenhart 2005 - - Germline/De novo (untested) - - - - - DNA SEQ - - TBS FamBPat2 PubMed: Botzenhart 2005 mother F - - - - - - - 1 Johan den Dunnen
?/. - c.787G>T r.(?) p.(Asp263Tyr) Unknown - VUS g.51175346C>A g.51141435C>A SALL1(NM_001127892.1):c.496G>T (p.(Asp166Tyr)), SALL1(NM_002968.2):c.787G>T (p.D263Y), SALL1(NM_002968.3):c.787G>T (p.D263Y) - SALL1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.787G>T r.(?) p.(Asp263Tyr) Unknown - likely benign g.51175346C>A - SALL1(NM_001127892.1):c.496G>T (p.(Asp166Tyr)), SALL1(NM_002968.2):c.787G>T (p.D263Y), SALL1(NM_002968.3):c.787G>T (p.D263Y) - SALL1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.787G>T r.(?) p.(Asp263Tyr) Unknown - likely benign g.51175346C>A - SALL1(NM_001127892.1):c.496G>T (p.(Asp166Tyr)), SALL1(NM_002968.2):c.787G>T (p.D263Y), SALL1(NM_002968.3):c.787G>T (p.D263Y) - SALL1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.792_793del r.(792_793del) p.(Leu264PhefsTer5) Maternal (confirmed) - pathogenic (dominant) g.51175340_51175341del g.51141429_51141430del 792–793delGC - SALL1_000146 - PubMed: Surka 2001 - - Germline yes - - - - DNA SEQ - - TBS family PubMed: Surka 2001 4-generation family, 7 affected (5F, 2M) F;M - United States - - - - - 7 Johan den Dunnen
-/. - c.809C>T r.(?) p.(Pro270Leu) Unknown - benign g.51175324G>A g.51141413G>A SALL1(NM_001127892.1):c.518C>T (p.(Pro173Leu)), SALL1(NM_002968.2):c.809C>T (p.P270L) - SALL1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.809C>T r.(?) p.(Pro270Leu) Unknown - likely benign g.51175324G>A g.51141413G>A SALL1(NM_001127892.1):c.518C>T (p.(Pro173Leu)), SALL1(NM_002968.2):c.809C>T (p.P270L) - SALL1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.809C>T r.(?) p.(Pro270Leu) Paternal (confirmed) - benign g.51175324G>A g.51141413G>A - - SALL1_000033 - PMID:Kosaki 2007:17431915} - - Germline - - - - - DNA SEQ - - ? family PubMed: Kosaki 2007 2-generation family, 2 affected sisters (mother dysplastic ears) F - Japan - - - - - 1 Johan den Dunnen
+/. - c.814C>T r.(?) p.(Gln272Ter) Unknown - pathogenic (dominant) g.51175319G>A g.51141408G>A - - SALL1_000193 - PubMed: Botzenhart 2007 - - Germline/De novo (untested) - - - - - DNA SEQ - - TBS Pat2 PubMed: Botzenhart 2007 patient F - - - - - - - 1 Johan den Dunnen
+/. - c.818del r.(818del) p.(Gly273Valfs*13) Unknown - pathogenic (dominant) g.51175316del g.51141405del 817delG - SALL1_000151 - PubMed: Salerno 2000 - - Germline/De novo (untested) - - - - - DNA SEQ - - TBS patient PubMed: Salerno 2000 - M - United States African-American - - - - 1 Johan den Dunnen
+?/. 2 c.824T>G r.(?) p.(Leu275Ter) Unknown ACMG pathogenic g.51175309A>C g.51141398A>C - - SALL1_000142 - - ClinVar-3765524 - Germline - - - - - DNA SEQ-NG-I peripheral blood WES TBS - - - M - - (not applicable) white - - - - 1 Marketa Wayhelova
+/. - c.824T>G r.(?) p.(Leu275Ter) Unknown - pathogenic (dominant) g.51175309A>C g.51141398A>C - - SALL1_000142 - PubMed: Liberalesso 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - TBS PatVMFS PubMed: Liberalesso 2017 2-generation family, 1 affected, unaffected parents M - Brazil - - - - - 1 Johan den Dunnen
+/. - c.826C>T r.(?) p.(Arg276Ter) Unknown - pathogenic g.51175307G>A g.51141396G>A SALL1(NM_002968.2):c.826C>T (p.R276*) - SALL1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.826C>T r.(?) p.(Arg276Ter) Unknown - pathogenic (dominant) g.51175307G>A g.51141396G>A - - SALL1_000071 - PubMed: Kohlhase 1999 - - De novo - - - - - DNA SEQ - - TBS Fam3Pat1 PubMed: Kohlhase 1999 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.826C>T r.(?) p.(Arg276Ter) Unknown - pathogenic (dominant) g.51175307G>A g.51141396G>A - - SALL1_000071 - PubMed: Kohlhase 1999 - - De novo - - - - - DNA SEQ - - TBS Fam4Pat1 PubMed: Kohlhase 1999 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.826C>T r.(?) p.(Arg276Ter) Unknown - pathogenic (dominant) g.51175307G>A g.51141396G>A - - SALL1_000071 - PubMed: Kohlhase 1999 - - De novo - - - - - DNA SEQ - - TBS Fam5Pat1 PubMed: Kohlhase 1999 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.826C>T r.826C>T p.Arg276Ter Unknown - pathogenic (dominant) g.51175307G>A g.51141396G>A - - SALL1_000071 - PubMed: Marlin 1999 - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ - - TBS TB6 PubMed: Marlin 1999 sporadic patient - - Portugal - - - - - 1 Johan den Dunnen
+/. - c.826C>T r.826C>T p.Arg276Ter Unknown - pathogenic (dominant) g.51175307G>A g.51141396G>A - - SALL1_000071 - PubMed: Marlin 1999 - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ - - TBS TB7 PubMed: Marlin 1999 sporadic patient - - Italy - - - - - 1 Johan den Dunnen
+/. - c.826C>T r.826C>T p.Arg276Ter Unknown - pathogenic (dominant) g.51175307G>A g.51141396G>A - - SALL1_000071 - PubMed: Marlin 1999 - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ - - TBS TB8 PubMed: Marlin 1999 sporadic patient - - France - - - - - 1 Johan den Dunnen
+/. - c.843del r.(843del) p.(Leu282CysfsTer4) Unknown - pathogenic (dominant) g.51175293del g.51141382del 840delC - SALL1_000153 - PubMed: Blanck 2000 - - Germline/De novo (untested) - - - - - DNA SEQ - - TBS patient PubMed: Blanck 2000 - M - - - - - - - 1 Johan den Dunnen
?/. - c.845T>G r.(?) p.(Leu282Trp) Unknown - VUS g.51175288A>C g.51141377A>C SALL1(NM_001127892.1):c.554T>G (p.(Leu185Trp)) - SALL1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.901C>T r.(?) p.(Gln301Ter) Unknown - pathogenic (dominant) g.51175232G>A g.51141321G>A - - SALL1_000192 - PubMed: Botzenhart 2007 - - Germline/De novo (untested) - - - - - DNA SEQ - - TBS Pat3 PubMed: Botzenhart 2007 patient F - - - - - - - 1 Johan den Dunnen
?/. - c.914G>A r.(?) p.(Ser305Asn) Unknown - VUS g.51175219C>T g.51141308C>T SALL1(NM_002968.2):c.914G>A (p.S305N) - SALL1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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