Unique variants in the DSTYK gene

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

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-/. 1 - c.42G>C r.(?) p.(Ser14=) - benign g.205180622C>G - DSTYK(NM_015375.3):c.42G>C (p.S14=) - DSTYK_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.46C>A r.(?) p.(Pro16Thr) - VUS g.205180618G>T g.205211490G>T - - DSTYK_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.60C>G r.(?) p.(Gly20=) - likely benign g.205180604G>C - DSTYK(NM_015375.2):c.60C>G (p.G20=) - DSTYK_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.86G>A r.(?) p.(Arg29Gln) - VUS g.205180578C>T - DSTYK(NM_015375.2):c.86G>A (p.R29Q) - DSTYK_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.120G>T r.(?) p.(Arg40=) - likely benign g.205180544C>A - DSTYK(NM_015375.3):c.120G>T (p.R40=) - DSTYK_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.165C>G r.(?) p.(Ile55Met) - likely benign g.205180499G>C - DSTYK(NM_015375.2):c.165C>G (p.I55M) - DSTYK_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.190C>T r.(?) p.(Leu64Phe) - 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 - - - - - VKGL-NL_Utrecht
?/. 1 - c.569A>C r.(?) p.(Glu190Ala) - VUS g.205156631T>G - DSTYK(NM_015375.2):c.569A>C (p.E190A) - DSTYK_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.623T>C r.(?) p.(Leu208Pro) - VUS g.205156577A>G g.205187449A>G - - DSTYK_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.635T>C r.(?) p.(Met212Thr) - VUS g.205156565A>G g.205187437A>G - - DSTYK_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.654+1G>A r.spl p.? - VUS g.205156545C>T g.205187417C>T - - DSTYK_000013 - PubMed: Heidet 2017 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.655-16C>T r.(=) p.(=) - likely benign g.205138976G>A - DSTYK(NM_015375.3):c.655-16C>T - DSTYK_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1243G>A r.(?) p.(Glu415Lys) - VUS g.205138372C>T - DSTYK(NM_015375.2):c.1243G>A (p.E415K) - DSTYK_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1542T>C r.(?) p.(Ser514=) - likely benign g.205132866A>G - DSTYK(NM_015375.3):c.1542T>C (p.S514=) - DSTYK_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1557+9A>C r.(=) p.(=) - benign g.205132842T>G g.205163714T>G DSTYK(NM_015375.3):c.1557+9A>C - DSTYK_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1731C>T r.(?) p.(Ser577=) - likely benign g.205131251G>A - DSTYK(NM_015375.3):c.1731C>T (p.S577=) - DSTYK_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1884T>A r.(?) p.(Asp628Glu) - likely benign g.205130450A>T g.205161322A>T DSTYK(NM_015375.2):c.1884T>A (p.(Asp628Glu)) - DSTYK_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2106-7C>T r.(=) p.(=) - likely benign g.205128814G>A - DSTYK(NM_015375.2):c.2106-7C>T - DSTYK_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.2215C>T r.(?) p.(Arg739Trp) - likely benign, VUS 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.2238+6G>A r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.2239-18C>G r.(=) p.(=) - likely benign g.205126532G>C - DSTYK(NM_015375.3):c.2239-18C>G - DSTYK_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2467+6G>A r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden
+?/., ?/. 2 - c.2674G>A r.(?) p.(Asp892Asn) - VUS g.205116802C>T g.205147674C>T DSTYK(NM_015375.2):c.2674G>A (p.D892N) - DSTYK_000011 VKGL data sharing initiative Nederland PubMed: Heidet 2017 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam
?/. 1 - c.2776G>T r.(?) p.(Asp926Tyr) - VUS g.205116700C>A - DSTYK(NM_015375.2):c.2776G>T (p.D926Y) - DSTYK_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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