Full data view for gene ANKS6

Information The variants shown are described using the NM_173551.3 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
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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.98C>T r.(?) p.(Ala33Val) Unknown - VUS g.101558676G>A - ANKS6(NM_173551.3):c.98C>T (p.(Ala33Val)) - ANKS6_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.145C>A r.(?) p.(Pro49Thr) Unknown - likely benign g.101558629G>T - ANKS6(NM_173551.4):c.145C>A (p.P49T) - ANKS6_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.175dup r.(?) p.(Ala59GlyfsTer78) Maternal (confirmed) ACMG likely pathogenic g.101558602dup g.98796320dup c.175(exon1)_c.176(exon1)insG - ANKS6_000024 - PubMed: Tang 2022, Journal: Tang 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHP 1009 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - 1 Johan den Dunnen
-/. - c.193G>T r.(?) p.(Val65Phe) Unknown - benign g.101558581C>A g.98796299C>A ANKS6(NM_173551.4):c.193G>T (p.V65F), ANKS6(NM_173551.5):c.193G>T (p.V65F) - ANKS6_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.193G>T r.(?) p.(Val65Phe) Unknown - likely benign g.101558581C>A - ANKS6(NM_173551.4):c.193G>T (p.V65F), ANKS6(NM_173551.5):c.193G>T (p.V65F) - ANKS6_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.233G>T r.(?) p.(Gly78Val) Unknown - VUS g.101558541C>A - ANKS6(NM_173551.4):c.233G>T (p.G78V) - ANKS6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.425G>A r.(?) p.(Arg142Gln) Unknown - VUS g.101552823C>T - ANKS6(NM_173551.4):c.425G>A (p.R142Q) - ANKS6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.532G>A r.(?) p.(Glu178Lys) Unknown - likely benign g.101552716C>T - ANKS6(NM_173551.5):c.532G>A (p.E178K) - ANKS6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.538C>T r.(?) p.(Leu180=) Unknown - likely benign g.101552710G>A - ANKS6(NM_173551.5):c.538C>T (p.L180=) - ANKS6_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.585G>A r.(?) p.(Leu195=) Unknown - likely benign g.101552663C>T - ANKS6(NM_173551.5):c.585G>A (p.L195=) - ANKS6_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.603C>T r.(?) p.(His201=) Unknown - likely benign g.101552645G>A - ANKS6(NM_173551.5):c.603C>T (p.H201=) - ANKS6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.615C>T r.(?) p.(Ala205=) Unknown - likely benign g.101552633G>A - ANKS6(NM_173551.5):c.615C>T (p.A205=) - ANKS6_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.616G>A r.(?) p.(Val206Met) Unknown - VUS g.101552632C>T g.98790350C>T ANKS6(NM_173551.5):c.616G>A (p.V206M) - ANKS6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.634G>A r.(?) p.(Glu212Lys) Unknown - VUS g.101552614C>T g.98790332C>T - - ANKS6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.649C>T r.(?) p.(Pro217Ser) Unknown - likely benign g.101552599G>A - ANKS6(NM_173551.5):c.649C>T (p.P217S) - ANKS6_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.658G>A r.(?) p.(Ala220Thr) Unknown - likely benign g.101552590C>T - ANKS6(NM_173551.4):c.658G>A (p.A220T), ANKS6(NM_173551.5):c.658G>A (p.A220T) - ANKS6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.658G>A r.(?) p.(Ala220Thr) Unknown - likely benign g.101552590C>T - ANKS6(NM_173551.4):c.658G>A (p.A220T), ANKS6(NM_173551.5):c.658G>A (p.A220T) - ANKS6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.664C>T r.(?) p.(Arg222Trp) Unknown - benign g.101552584G>A g.98790302G>A ANKS6(NM_173551.5):c.664C>T (p.R222W) - ANKS6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.786C>T r.(?) p.(Phe262=) Unknown - likely benign g.101552462G>A - ANKS6(NM_173551.5):c.786C>T (p.F262=) - ANKS6_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.806A>G r.(?) p.(Lys269Arg) Unknown - likely benign g.101552442T>C g.98790160T>C ANKS6(NM_173551.4):c.806A>G (p.K269R), ANKS6(NM_173551.5):c.806A>G (p.K269R) - ANKS6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.806A>G r.(?) p.(Lys269Arg) Unknown - likely benign g.101552442T>C - ANKS6(NM_173551.4):c.806A>G (p.K269R), ANKS6(NM_173551.5):c.806A>G (p.K269R) - ANKS6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.907+2T>A r.spl? p.? Unknown - pathogenic g.101547112A>T g.98784830A>T - - ANKS6_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.931A>G r.(?) p.(Ile311Val) Unknown - VUS g.101546416T>C - ANKS6(NM_173551.5):c.931A>G (p.I311V) - ANKS6_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1112+11G>A r.(=) p.(=) Unknown - likely benign g.101546224C>T - ANKS6(NM_173551.5):c.1112+11G>A - ANKS6_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1125T>C r.(?) p.(Ile375=) Unknown - likely benign g.101544843A>G - ANKS6(NM_173551.4):c.1125T>C (p.I375=) - ANKS6_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1148G>A r.(?) p.(Gly383Glu) Unknown - VUS g.101544820C>T g.98782538C>T ANKS6(NM_173551.5):c.1148G>A (p.G383E) - ANKS6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1310C>T r.(?) p.(Ser437Leu) Unknown - VUS g.101542529G>A - ANKS6(NM_173551.4):c.1310C>T (p.S437L) - ANKS6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1322A>G r.(?) p.(Gln441Arg) Unknown - VUS g.101542517T>C - ANKS6(NM_173551.4):c.1322A>G (p.Q441R) - ANKS6_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1458T>C r.(?) p.(Pro486=) Unknown - likely benign g.101540617A>G g.98778335A>G ANKS6(NM_173551.4):c.1458T>C (p.P486=) - ANKS6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1525C>A r.(?) p.(Arg509Ser) Unknown - likely benign g.101540550G>T - ANKS6(NM_173551.3):c.1525C>A (p.(Arg509Ser)) - ANKS6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1528T>C r.(?) p.(Ser510Pro) Unknown - likely benign g.101540547A>G - ANKS6(NM_173551.4):c.1528T>C (p.S510P) - ANKS6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1565A>G r.(?) p.(Asn522Ser) Unknown - benign g.101540510T>C - ANKS6(NM_173551.5):c.1565A>G (p.N522S) - ANKS6_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1691C>A r.(?) p.(Pro564His) Unknown - VUS g.101536289G>T - ANKS6(NM_173551.5):c.1691C>A (p.P564H) - ANKS6_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1740C>T r.(?) p.(Asn580=) Unknown - likely benign g.101536240G>A - ANKS6(NM_173551.4):c.1740C>T (p.N580=) - ANKS6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1767G>A r.(?) p.(Ala589=) Unknown - likely benign g.101536213C>T - ANKS6(NM_173551.5):c.1767G>A (p.A589=) - ANKS6_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1930G>A r.(?) p.(Val644Ile) Unknown - benign g.101533220C>T - ANKS6(NM_173551.5):c.1930G>A (p.V644I) - ANKS6_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2197A>C r.(?) p.(Thr733Pro) Unknown - VUS g.101518831T>G - ANKS6(NM_173551.5):c.2197A>C (p.(Thr733Pro)) - ANKS6_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2203C>G r.(?) p.(Pro735Ala) Unknown - benign g.101518825G>C g.98756543G>C ANKS6(NM_173551.4):c.2203C>G (p.P735A), ANKS6(NM_173551.5):c.2203C>G (p.(Pro735Ala), p.P735A) - ANKS6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2203C>G r.(?) p.(Pro735Ala) Unknown - benign g.101518825G>C - ANKS6(NM_173551.4):c.2203C>G (p.P735A), ANKS6(NM_173551.5):c.2203C>G (p.(Pro735Ala), p.P735A) - ANKS6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2203C>G r.(?) p.(Pro735Ala) Unknown - likely benign g.101518825G>C - ANKS6(NM_173551.4):c.2203C>G (p.P735A), ANKS6(NM_173551.5):c.2203C>G (p.(Pro735Ala), p.P735A) - ANKS6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2265G>A r.(?) p.(Ser755=) Unknown - likely benign g.101518763C>T g.98756481C>T ANKS6(NM_173551.4):c.2265G>A (p.S755=), ANKS6(NM_173551.5):c.2265G>A (p.S755=) - ANKS6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2265G>A r.(?) p.(Ser755=) Unknown - likely benign g.101518763C>T g.98756481C>T ANKS6(NM_173551.4):c.2265G>A (p.S755=), ANKS6(NM_173551.5):c.2265G>A (p.S755=) - ANKS6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2265G>A r.(?) p.(Ser755=) Unknown - likely benign g.101518763C>T - ANKS6(NM_173551.4):c.2265G>A (p.S755=), ANKS6(NM_173551.5):c.2265G>A (p.S755=) - ANKS6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2267C>T r.(?) p.(Ser756Leu) Unknown - VUS g.101518761G>A - ANKS6(NM_173551.4):c.2267C>T (p.S756L), ANKS6(NM_173551.5):c.2267C>T (p.S756L) - ANKS6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2267C>T r.(?) p.(Ser756Leu) Unknown - VUS g.101518761G>A - ANKS6(NM_173551.4):c.2267C>T (p.S756L), ANKS6(NM_173551.5):c.2267C>T (p.S756L) - ANKS6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2271C>T r.(?) p.(Ser757=) Unknown - likely benign g.101518757G>A - ANKS6(NM_173551.5):c.2271C>T (p.S757=) - ANKS6_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13i c.2394+1G>A r.spl p.? Paternal (confirmed) ACMG pathogenic g.101513310C>T g.98751028C>T c.2394+1(IVS13)G>A - ANKS6_000023 - PubMed: Tang 2022, Journal: Tang 2022 - rs897128993 Germline - - - - - DNA SEQ, SEQ-NG - WES NPHP 1009 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - 1 Johan den Dunnen
?/. - c.2486C>T r.(?) p.(Ala829Val) Unknown - VUS g.101507866G>A - ANKS6(NM_173551.5):c.2486C>T (p.A829V) - ANKS6_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2564T>C r.(?) p.(Phe855Ser) Unknown - VUS g.101498853A>G - ANKS6(NM_173551.5):c.2564T>C (p.F855S) - ANKS6_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2593C>T r.(?) p.(Pro865Ser) Parent #1 - VUS g.101498824G>A g.98736542G>A - - ANKS6_000011 32 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs199851177 Germline - 32/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 32 Mohammed Faruq
?/. - c.2593C>T r.(?) p.(Pro865Ser) Both (homozygous) - VUS g.101498824G>A g.98736542G>A - - ANKS6_000011 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs199851177 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.2593C>T r.(?) p.(Pro865Ser) Unknown - likely benign g.101498824G>A - ANKS6(NM_173551.5):c.2593C>T (p.P865S) - ANKS6_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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