Full data view for gene SLC26A10

Information The variants shown are described using the NM_133489.2 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.829_844del r.(?) p.(Pro277ThrfsTer138) Unknown - VUS g.58016607_58016622del g.57622824_57622839del SLC26A10(NM_133489.2):c.825_840del (p.(Pro277ThrfsTer138)) - SLC26A10_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.829_844del r.(?) p.(Pro277Thrfs*138) Parent #1 - VUS g.58016607_58016622del g.57622824_57622839del - - SLC26A10_000014 - PubMed: Arno 2017 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WGS retinal disease FamGC3626Pat2 PubMed: Arno 2017 2-generation family, 1 affeted M - - - - - - - 1 Johan den Dunnen
?/. - c.912G>C r.(?) p.(Lys304Asn) Unknown - VUS g.58016690G>C g.57622907G>C SLC26A10(NM_133489.2):c.912G>C (p.(Lys304Asn)) - SLC26A10_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.912G>C r.(?) p.(Lys304Asn) Unknown - VUS g.58016690G>C g.57622907G>C - - SLC26A10_000002 - PubMed: Arno 2017 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WGS retinal disease FamGC3626Pat2 PubMed: Arno 2017 2-generation family, 1 affeted M - - - - - - - 1 Johan den Dunnen
?/. - c.1023T>G r.(?) p.(Asn341Lys) Unknown - VUS g.58016890T>G g.57623107T>G - - SLC26A10_000015 - PubMed: Arno 2017 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WGS retinal disease FamGC3626Pat2 PubMed: Arno 2017 2-generation family, 1 affeted M - - - - - - - 1 Johan den Dunnen
?/. - c.1061G>A r.(?) p.(Gly354Asp) Unknown - VUS g.58017626G>A g.57623843G>A SLC26A10(NM_133489.2):c.1061G>A (p.(Gly354Asp)) - SLC26A10_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1054G>A r.(=) p.(=) Unknown - likely benign g.58020582G>A - B4GALNT1(NM_001478.5):c.1547C>T (p.(Ala516Val)) - B4GALNT1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1226G>A r.(=) p.(=) Unknown - likely benign g.58020754G>A g.57626971G>A B4GALNT1(NM_001478.4):c.1385-10C>T - SLC26A10_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*1935G>T r.(=) p.(=) Unknown - likely pathogenic g.58021463G>T g.57627680G>T - - B4GALNT1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1985G>A r.(=) p.(=) Unknown - likely benign g.58021513G>A g.57627730G>A B4GALNT1(NM_001478.4):c.1272C>T (p.V424=) - B4GALNT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1985G>C r.(=) p.(=) Unknown - likely benign g.58021513G>C g.57627730G>C B4GALNT1(NM_001478.4):c.1272C>G (p.V424=), B4GALNT1(NM_001478.5):c.1272C>G (p.(Val424=)) - SLC26A10_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1985G>C r.(=) p.(=) Unknown - likely benign g.58021513G>C - B4GALNT1(NM_001478.4):c.1272C>G (p.V424=), B4GALNT1(NM_001478.5):c.1272C>G (p.(Val424=)) - SLC26A10_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2067C>G r.(=) p.(=) Unknown - VUS g.58021595C>G g.57627812C>G B4GALNT1(NM_001478.4):c.1190G>C (p.R397P) - SLC26A10_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2385G>A r.(=) p.(=) Unknown - likely benign g.58021913G>A - B4GALNT1(NM_001478.4):c.1135C>T (p.L379=) - B4GALNT1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3090C>T r.(=) p.(=) Unknown - VUS g.58022618C>T g.57628835C>T B4GALNT1(NM_001276468.1):c.715G>A (p.(Ala239Thr)), B4GALNT1(NM_001478.4):c.880G>A (p.A294T) - B4GALNT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3090C>T r.(=) p.(=) Unknown - likely benign g.58022618C>T g.57628835C>T B4GALNT1(NM_001276468.1):c.715G>A (p.(Ala239Thr)), B4GALNT1(NM_001478.4):c.880G>A (p.A294T) - B4GALNT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3165T>A r.(=) p.(=) Unknown - likely benign g.58022693T>A - B4GALNT1(NM_001478.5):c.812-7A>T - SLC26A10_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3321C>T r.(=) p.(=) Unknown - VUS g.58022849C>T g.57629066C>T B4GALNT1(NM_001478.4):c.793G>A (p.G265R, p.(Gly265Arg)) - B4GALNT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3321C>T r.(=) p.(=) Unknown - likely benign g.58022849C>T - B4GALNT1(NM_001478.4):c.793G>A (p.G265R, p.(Gly265Arg)) - B4GALNT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3386T>C r.(=) p.(=) Unknown - likely benign g.58022914T>C g.57629131T>C B4GALNT1(NM_001478.4):c.728A>G (p.E243G) - B4GALNT1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3387C>T r.(=) p.(=) Unknown - likely benign g.58022915C>T g.57629132C>T B4GALNT1(NM_001478.4):c.727G>A (p.E243K) - B4GALNT1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3398C>T r.(=) p.(=) Unknown - likely benign g.58022926C>T - B4GALNT1(NM_001478.5):c.716G>A (p.(Arg239Gln)) - SLC26A10_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4159C>G r.(=) p.(=) Unknown - benign g.58023687C>G g.57629904C>G B4GALNT1(NM_001276469.1):c.960G>C (p.V320=) - B4GALNT1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4340C>T r.(=) p.(=) Unknown - likely benign g.58023868C>T g.57630085C>T B4GALNT1(NM_001276469.1):c.779G>A (p.G260E) - SLC26A10_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4518C>G r.(=) p.(=) Unknown - VUS g.58024046C>G g.57630263C>G B4GALNT1(NM_001478.4):c.601G>C (p.E201Q) - SLC26A10_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4595G>A r.(=) p.(=) Unknown - likely benign g.58024123G>A g.57630340G>A B4GALNT1(NM_001478.4):c.532-8C>T - SLC26A10_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*5274C>T r.(=) p.(=) Unknown - likely pathogenic g.58024802C>T g.57631019C>T - - B4GALNT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5543C>T r.(=) p.(=) Unknown - VUS g.58025071C>T g.57631288C>T B4GALNT1(NM_001478.4):c.295G>A (p.A99T) - SLC26A10_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5626G>A r.(=) p.(=) Unknown - likely benign g.58025154G>A - B4GALNT1(NM_001478.5):c.219-7C>T - SLC26A10_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6285G>C r.(=) p.(=) Unknown - benign g.58025813G>C g.57632030G>C B4GALNT1(NM_001478.4):c.103C>G (p.L35V) - B4GALNT1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6376G>A r.(=) p.(=) Unknown - likely benign g.58025904G>A g.57632121G>A B4GALNT1(NM_001478.4):c.12C>T (p.G4=) - SLC26A10_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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