Full data view for gene DSTYK

Information The variants shown are described using the NM_015375.2 transcript reference sequence.

62 entries on 1 page. Showing entries 1 - 62.
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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.42G>C r.(?) p.(Ser14=) Unknown - benign g.205180622C>G - DSTYK(NM_015375.3):c.42G>C (p.S14=) - DSTYK_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.46C>A r.(?) p.(Pro16Thr) Unknown - likely benign g.205180618G>T g.205211490G>T - - DSTYK_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.46C>T r.(?) p.(Pro16Ser) Unknown - likely benign g.205180618G>A - DSTYK(NM_015375.2):c.46C>T (p.(Pro16Ser)) - DSTYK_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.60C>G r.(?) p.(Gly20=) Unknown - likely benign g.205180604G>C - DSTYK(NM_015375.2):c.60C>G (p.G20=), DSTYK(NM_015375.3):c.60C>G (p.G20=) - DSTYK_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.60C>G r.(?) p.(Gly20=) Unknown - likely benign g.205180604G>C - DSTYK(NM_015375.2):c.60C>G (p.G20=), DSTYK(NM_015375.3):c.60C>G (p.G20=) - DSTYK_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.73C>T r.(?) p.(Arg25Cys) Unknown - VUS g.205180591G>A - DSTYK(NM_015375.3):c.73C>T (p.R25C) - DSTYK_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.76G>C r.(?) p.(Glu26Gln) Unknown - VUS g.205180588C>G - DSTYK(NM_015375.3):c.76G>C (p.(Glu26Gln)) - DSTYK_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.86G>A r.(?) p.(Arg29Gln) Unknown - VUS g.205180578C>T - DSTYK(NM_015375.2):c.86G>A (p.R29Q), DSTYK(NM_015375.3):c.86G>A (p.(Arg29Gln)) - DSTYK_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.86G>A r.(?) p.(Arg29Gln) Unknown - VUS g.205180578C>T - DSTYK(NM_015375.2):c.86G>A (p.R29Q), DSTYK(NM_015375.3):c.86G>A (p.(Arg29Gln)) - DSTYK_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.94_102dup r.(?) p.(Gly32_Tyr34dup) Unknown - VUS g.205180563_205180571dup - DSTYK(NM_015375.3):c.94_102dupGGCCGCTAC (p.G32_Y34dup) - DSTYK_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.97C>A r.(?) p.(Arg33Ser) Unknown - VUS g.205180567G>T - - - DSTYK_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.110A>C r.(?) p.(Tyr37Ser) Unknown - VUS g.205180554T>G - DSTYK(NM_015375.2):c.110A>C (p.(Tyr37Ser)) - DSTYK_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.120G>T r.(?) p.(Arg40=) Unknown - likely benign g.205180544C>A - DSTYK(NM_015375.3):c.120G>T (p.R40=) - DSTYK_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.165C>G r.(?) p.(Ile55Met) Unknown - likely benign g.205180499G>C - DSTYK(NM_015375.2):c.165C>G (p.I55M) - DSTYK_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.190C>T r.(?) p.(Leu64Phe) Unknown - benign g.205180474G>A g.205211346G>A DSTYK(NM_015375.3):c.190C>T (p.L64F) - DSTYK_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.303G>C r.(?) p.(Glu101Asp) Unknown - VUS g.205156897C>G - DSTYK(NM_015375.2):c.303G>C (p.(Glu101Asp)) - DSTYK_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.497C>T r.(?) p.(Ala166Val) Unknown - likely benign g.205156703G>A - DSTYK(NM_015375.2):c.497C>T (p.(Ala166Val)) - DSTYK_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.569A>C r.(?) p.(Glu190Ala) Unknown - VUS g.205156631T>G - DSTYK(NM_015375.2):c.569A>C (p.E190A, p.(Glu190Ala)) - DSTYK_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.569A>C r.(?) p.(Glu190Ala) Unknown - VUS g.205156631T>G - DSTYK(NM_015375.2):c.569A>C (p.E190A, p.(Glu190Ala)) - DSTYK_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.623T>C r.(?) p.(Leu208Pro) Unknown - VUS g.205156577A>G g.205187449A>G - - DSTYK_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.623T>C r.(?) p.(Leu208Pro) Both (homozygous) - VUS g.205156577A>G g.205187449A>G - - DSTYK_000004 - PubMed: Al-Kasbi 2022 - rs1359033175 Germline - - - - - DNA SEQ, SEQ-NG - WES ID 10MS15303 PubMed: Al-Kasbi 2022 patient, other affecteds in family M - Oman - - - - - 1 Johan den Dunnen
?/. - c.635T>C r.(?) p.(Met212Thr) Unknown - VUS g.205156565A>G g.205187437A>G - - DSTYK_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.653A>G r.(?) p.(Gln218Arg) Unknown - likely benign g.205156547T>C - DSTYK(NM_015375.3):c.653A>G (p.Q218R) - DSTYK_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.654+1G>A r.spl p.? Unknown - VUS g.205156545C>T g.205187417C>T - - DSTYK_000013 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel kidney disease BO11 PubMed: Heidet 2017 - - - France - - - - - 1 Johan den Dunnen
?/. - c.654+1G>A r.spl? p.? Unknown - VUS g.205156545C>T - DSTYK(NM_015375.2):c.654+1G>A (p.?) - DSTYK_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.655-16C>T r.(=) p.(=) Unknown - likely benign g.205138976G>A - DSTYK(NM_015375.3):c.655-16C>T - DSTYK_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.655-3C>T r.spl? p.? Unknown - likely benign g.205138963G>A - DSTYK(NM_015375.2):c.655-3C>T (p.?) - DSTYK_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.759C>A r.(?) p.(His253Gln) Unknown - likely benign g.205138856G>T - DSTYK(NM_015375.2):c.759C>A (p.(His253Gln)) - DSTYK_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1209A>G r.(?) p.(Glu403=) Unknown - benign g.205138406T>C - DSTYK(NM_015375.3):c.1209A>G (p.E403=) - DSTYK_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1243G>A r.(?) p.(Glu415Lys) Unknown - VUS g.205138372C>T - DSTYK(NM_015375.2):c.1243G>A (p.E415K) - DSTYK_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1294C>G r.(?) p.(Leu432Val) Unknown - benign g.205138321G>C - DSTYK(NM_015375.3):c.1294C>G (p.(Leu432Val)) - DSTYK_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1542T>C r.(?) p.(Ser514=) Unknown - likely benign g.205132866A>G - DSTYK(NM_015375.3):c.1542T>C (p.S514=) - DSTYK_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1557+7A>G r.(=) p.(=) Unknown - likely benign g.205132844T>C - DSTYK(NM_015375.3):c.1557+7A>G - DSTYK_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1557+9A>C r.(=) p.(=) Unknown - benign g.205132842T>G g.205163714T>G DSTYK(NM_015375.3):c.1557+9A>C - DSTYK_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1577A>G r.(?) p.(His526Arg) Unknown - VUS g.205132115T>C - DSTYK(NM_015375.3):c.1577A>G (p.(His526Arg)) - DSTYK_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1589C>T r.(?) p.(Thr530Met) Unknown - VUS g.205132103G>A - DSTYK(NM_015375.3):c.1589C>T (p.(Thr530Met)) - DSTYK_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1677C>T r.(?) p.(=) Unknown - likely benign g.205131305G>A - DSTYK(NM_015375.3):c.1677C>T (p.A559=) - DSTYK_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1731C>T r.(?) p.(Ser577=) Unknown - likely benign g.205131251G>A - DSTYK(NM_015375.3):c.1731C>T (p.S577=) - DSTYK_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1732G>A r.(?) p.(Ala578Thr) Unknown - VUS g.205131250C>T - DSTYK(NM_015375.2):c.1732G>A (p.(Ala578Thr)) - DSTYK_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1774C>T r.(?) p.(Arg592Trp) Unknown - VUS g.205131208G>A - DSTYK(NM_015375.3):c.1774C>T (p.(Arg592Trp)) - DSTYK_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1819-3C>T r.spl? p.? Unknown - likely benign g.205130518G>A - DSTYK(NM_015375.3):c.1819-3C>T - DSTYK_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1884T>A r.(?) p.(Asp628Glu) Unknown - likely benign g.205130450A>T g.205161322A>T DSTYK(NM_015375.2):c.1884T>A (p.(Asp628Glu)), DSTYK(NM_015375.3):c.1884T>A (p.D628E) - DSTYK_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1884T>A r.(?) p.(Asp628Glu) Unknown - likely benign g.205130450A>T - DSTYK(NM_015375.2):c.1884T>A (p.(Asp628Glu)), DSTYK(NM_015375.3):c.1884T>A (p.D628E) - DSTYK_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1903C>T r.(?) p.(Arg635Cys) Unknown - VUS g.205130431G>A - DSTYK(NM_015375.2):c.1903C>T (p.(Arg635Cys)) - DSTYK_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2105+10G>A r.(=) p.(=) Unknown - likely benign g.205129232C>T - DSTYK(NM_015375.3):c.2105+10G>A - DSTYK_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2106-7C>T r.(=) p.(=) Unknown - likely benign g.205128814G>A - DSTYK(NM_015375.2):c.2106-7C>T, DSTYK(NM_015375.3):c.2106-7C>T - DSTYK_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2106-7C>T r.(=) p.(=) Unknown - likely benign g.205128814G>A - DSTYK(NM_015375.2):c.2106-7C>T, DSTYK(NM_015375.3):c.2106-7C>T - DSTYK_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2125C>T r.(?) p.(Arg709*) Unknown - likely pathogenic g.205128788G>A - DSTYK(NM_015375.3):c.2125C>T (p.(Arg709Ter), p.R709*) - DSTYK_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2125C>T r.(?) p.(Arg709*) Unknown - VUS g.205128788G>A - DSTYK(NM_015375.3):c.2125C>T (p.(Arg709Ter), p.R709*) - DSTYK_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2125C>T r.(?) p.(Arg709Ter) Unknown - pathogenic (dominant) g.205128788G>A g.205159660G>A - - DSTYK_000026 - PubMed: Boissel 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 051-141-VWD PubMed: Boissel 2017 analysis 101 stillborn fetuses with severe prenatal anoalies - - Canada - 0d - - - 1 Johan den Dunnen
-?/. - c.2215C>T r.(?) p.(Arg739Trp) Unknown - likely benign g.205128698G>A g.205159570G>A DSTYK(NM_015375.2):c.2215C>T (p.R739W, p.(Arg739Trp)) - DSTYK_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2215C>T r.(?) p.(Arg739Trp) Unknown - VUS g.205128698G>A - DSTYK(NM_015375.2):c.2215C>T (p.R739W, p.(Arg739Trp)) - DSTYK_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2238+6G>A r.(=) p.(=) Unknown - likely benign g.205128669C>T g.205159541C>T DSTYK(NM_015375.2):c.2238+6G>A (p.(=)) - DSTYK_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2239-18C>G r.(=) p.(=) Unknown - likely benign g.205126532G>C - DSTYK(NM_015375.3):c.2239-18C>G - DSTYK_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2336A>T r.(?) p.(Lys779Ile) Unknown - VUS g.205126417T>A - DSTYK(NM_015375.3):c.2336A>T (p.K779I) - DSTYK_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2467+6G>A r.(=) p.(=) Unknown - likely benign g.205119802C>T g.205150674C>T DSTYK(NM_015375.2):c.2467+6G>A (p.(=)) - DSTYK_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2659G>A r.(?) p.(Ala887Thr) Unknown - VUS g.205116817C>T - DSTYK(NM_015375.2):c.2659G>A (p.(Ala887Thr)) - DSTYK_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2674G>A r.(?) p.(Asp892Asn) Unknown - VUS g.205116802C>T g.205147674C>T DSTYK(NM_015375.2):c.2674G>A (p.D892N) - DSTYK_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2674G>A r.(?) p.(Asp892Asn) Unknown - VUS g.205116802C>T g.205147674C>T - - DSTYK_000011 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K127 PubMed: Heidet 2017 affected patient and 1st degree relative - - France - - - - - 2 Johan den Dunnen
?/. - c.2674G>T r.(?) p.(Asp892Tyr) Unknown - VUS g.205116802C>A - DSTYK(NM_015375.3):c.2674G>T (p.(Asp892Tyr)) - DSTYK_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2776G>T r.(?) p.(Asp926Tyr) Unknown - VUS g.205116700C>A - DSTYK(NM_015375.2):c.2776G>T (p.D926Y), DSTYK(NM_015375.3):c.2776G>T (p.(Asp926Tyr)) - DSTYK_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2776G>T r.(?) p.(Asp926Tyr) Unknown - VUS g.205116700C>A - DSTYK(NM_015375.2):c.2776G>T (p.D926Y), DSTYK(NM_015375.3):c.2776G>T (p.(Asp926Tyr)) - DSTYK_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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