Full data view for gene SALL2

Information The variants shown are described using the NM_005407.1 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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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.74-426G>A r.(=) p.(=) Unknown - likely benign g.21994214C>T - SALL2(NM_001364564.1):c.48G>A (p.G16=) - SALL2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.407G>A r.(?) p.(Gly136Glu) Unknown - VUS g.21993455C>T g.21525321C>T SALL2(NM_005407.2):c.407G>A (p.G136E) - SALL2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.488C>G r.(?) p.(Pro163Arg) Unknown - VUS g.21993374G>C g.21525240G>C SALL2(NM_005407.2):c.488C>G (p.P163R) - SALL2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.499C>A r.(?) p.(Pro167Thr) Unknown - VUS g.21993363G>T - SALL2(NM_005407.2):c.499C>A (p.P167T) - SALL2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.546C>T r.(?) p.(Ile182=) Unknown - likely benign g.21993316G>A - SALL2(NM_005407.2):c.546C>T (p.I182=) - SALL2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.657C>A r.(?) p.(Ala219=) Unknown - likely benign g.21993205G>T g.21525071G>T SALL2(NM_005407.2):c.657C>A (p.A219=) - SALL2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.783_785del r.(?) p.(Ser265del) Unknown - VUS g.21993091_21993093del - SALL2(NM_005407.2):c.783_785delCTC (p.S265del) - SALL2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1095C>T r.(?) p.(Pro365=) Unknown - likely benign g.21992767G>A g.21524633G>A SALL2(NM_005407.2):c.1095C>T (p.P365=) - SALL2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1157G>C r.(?) p.(Ser386Thr) Unknown - VUS g.21992705C>G g.21524571C>G SALL2(NM_005407.2):c.1157G>C (p.S386T) - SALL2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1503G>A r.(?) p.(Thr501=) Unknown - likely benign g.21992359C>T - SALL2(NM_005407.2):c.1503G>A (p.T501=) - SALL2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1536G>C r.(?) p.(Val512=) Unknown - likely benign g.21992326C>G g.21524192C>G SALL2(NM_005407.2):c.1536G>C (p.V512=) - SALL2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1847C>T r.(?) p.(Thr616Ile) Unknown - VUS g.21992015G>A - SALL2(NM_005407.2):c.1847C>T (p.T616I) - SALL2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2124G>A r.(?) p.(Gln708=) Unknown - likely benign g.21991738C>T g.21523604C>T SALL2(NM_005407.2):c.2124G>A (p.Q708=) - SALL2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2211C>T r.(?) p.(Ser737=) Unknown - likely benign g.21991651G>A g.21523517G>A SALL2(NM_005407.2):c.2211C>T (p.S737=) - SALL2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2273C>G r.(?) p.(Pro758Arg) Unknown - VUS g.21991589G>C g.21523455G>C SALL2(NM_005407.2):c.2273C>G (p.P758R) - SALL2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2282A>G r.(?) p.(Glu761Gly) Unknown - likely benign g.21991580T>C g.21523446T>C SALL2(NM_005407.2):c.2282A>G (p.E761G) - SALL2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2513C>T r.(?) p.(Pro838Leu) Unknown - likely benign g.21991349G>A g.21523215G>A SALL2(NM_005407.2):c.2513C>T (p.P838L) - SALL2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2726G>T r.(?) p.(Ser909Ile) Unknown - VUS g.21991136C>A - SALL2(NM_005407.3):c.2726G>T (p.S909I) - SALL2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2912C>T r.(?) p.(Pro971Leu) Unknown - VUS g.21990950G>A g.21522816G>A SALL2(NM_005407.2):c.2912C>T (p.P971L) - SALL2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2965T>C r.(?) p.(Ser989Pro) Unknown - likely benign g.21990897A>G g.21522763A>G SALL2(NM_005407.2):c.2965T>C (p.S989P) - SALL2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*496A>C r.(=) p.(=) Unknown - VUS g.21990342T>G g.21522208T>G SALL2(NM_001291446.1):c.2527A>C (p.M843L) - SALL2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*632C>T r.(=) p.(=) Unknown - VUS g.21990206G>A g.21522072G>A SALL2(NM_001291446.1):c.2663C>T (p.P888L), SALL2(NM_001291447.1):c.2657C>T (p.P886L) - SALL2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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