All variants in the KANK2 gene

Information The variants shown are described using the NM_015493.6 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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Effect     

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     
?/. - c.-7926A>G r.(?) p.(=) - VUS g.11313113T>C g.11202437T>C - - DOCK6_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.-7546C>A r.(?) p.(=) - pathogenic g.11312733G>T - DOCK6(NM_020812.4):c.5520C>A (p.Y1840*) - C19orf80_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.-7526T>C r.(?) p.(=) - VUS g.11312713A>G - DOCK6(NM_020812.3):c.5540T>C (p.(Leu1847Pro)) - C19orf80_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-7491G>A r.(?) p.(=) - VUS g.11312678C>T g.11202002C>T DOCK6(NM_020812.3):c.5575G>A (p.(Asp1859Asn)) - DOCK6_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-7451G>A r.(?) p.(=) - VUS g.11312638C>T - DOCK6(NM_020812.4):c.5615G>A (p.(Arg1872His)) - C19orf80_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-7445C>G r.(?) p.(=) - VUS g.11312632G>C - DOCK6(NM_020812.3):c.5621C>G (p.(Thr1874Arg)) - C19orf80_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-7369G>C r.(?) p.(=) - likely benign g.11312556C>G - DOCK6(NM_020812.4):c.5688+9G>C - DOCK6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-6540C>T r.(?) p.(=) - VUS g.11311727G>A - DOCK6(NM_020812.3):c.5690C>T (p.T1897M) - C19orf80_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-6530G>A r.(?) p.(=) - benign g.11311717C>T g.11201041C>T DOCK6(NM_020812.3):c.5700G>A (p.T1900=) - C19orf80_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-6469G>A r.(?) p.(=) - likely benign g.11311656C>T - DOCK6(NM_020812.3):c.5761G>A (p.(Glu1921Lys)) - C19orf80_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-6401C>A r.(?) p.(=) - likely benign g.11311588G>T - DOCK6(NM_020812.3):c.5829C>A (p.(Asn1943Lys)) - C19orf80_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-6394C>T r.(?) p.(=) - likely benign g.11311581G>A g.11200905G>A DOCK6(NM_020812.3):c.5832+4C>T - C19orf80_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-6393G>T r.(?) p.(=) - VUS g.11311580C>A g.11200904C>A DOCK6(NM_020812.3):c.5832+5G>T (p.?) - DOCK6_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-6327C>G r.(?) p.(=) - likely benign g.11311514G>C g.11200838G>C DOCK6(NM_020812.4):c.5833-16C>G - DOCK6_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-6251C>T r.(?) p.(=) - VUS g.11311438G>A - DOCK6(NM_020812.4):c.5893C>T (p.(Arg1965Trp)) - C19orf80_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.-6203T>C r.(?) p.(=) - pathogenic g.11311390A>G g.11200714A>G DOCK6(NM_001367830.1):c.6044+2T>C, DOCK6(NM_020812.4):c.5939+2T>C - DOCK6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.-6203T>C r.(?) p.(=) - likely pathogenic g.11311390A>G - DOCK6(NM_001367830.1):c.6044+2T>C, DOCK6(NM_020812.4):c.5939+2T>C - DOCK6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.-6203T>C r.(?) p.(=) - pathogenic g.11311390A>G - DOCK6(NM_001367830.1):c.6044+2T>C, DOCK6(NM_020812.4):c.5939+2T>C - DOCK6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-6199C>T r.(?) p.(=) - likely benign g.11311386G>A g.11200710G>A DOCK6(NM_020812.3):c.5939+6C>T (p.(=)) - DOCK6_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-6199C>T r.(?) p.(=) - likely benign g.11311386G>A - DOCK6(NM_020812.3):c.5939+6C>T (p.(=)) - DOCK6_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-5922T>A r.(?) p.(=) - benign g.11311109A>T g.11200433A>T DOCK6(NM_020812.4):c.5976T>A (p.I1992=) - DOCK6_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.-5836G>A r.(?) p.(=) - VUS g.11311023C>T - DOCK6(NM_020812.3):c.6062G>A (p.(Arg2021His)) - C19orf80_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-4923C>T r.(?) p.(=) - likely benign g.11310110G>A - DOCK6(NM_020812.3):c.*63C>T (p.?) - C19orf80_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-1307G>T r.(?) p.(=) - likely benign g.11306494C>A - KANK2(NM_001136191.3):c.-276G>T - C19orf80_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.-2_1del r.(?) p.(=) - pathogenic g.11305191_11305193del - KANK2(NM_001136191.2):c.-2_1delAGA - C19orf80_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.10G>A r.(?) p.(Val4Ile) - likely benign g.11305178C>T g.11194502C>T KANK2(NM_001136191.2):c.10G>A (p.V4I), KANK2(NM_001136191.3):c.10G>A (p.V4I) - C19orf80_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.10G>A r.(?) p.(Val4Ile) - likely benign g.11305178C>T - KANK2(NM_001136191.2):c.10G>A (p.V4I), KANK2(NM_001136191.3):c.10G>A (p.V4I) - C19orf80_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.38-19G>A r.(=) p.(=) - likely benign g.11304737C>T - KANK2(NM_001136191.2):c.38-19G>A - KANK2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.304T>C r.(?) p.(Tyr102His) - likely benign g.11304452A>G - KANK2(NM_001136191.2):c.304T>C (p.Y102H) - KANK2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.867C>T r.(?) p.(Val289=) - likely benign g.11303889G>A - KANK2(NM_001136191.2):c.867C>T (p.V289=) - KANK2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.926G>A r.(?) p.(Arg309Gln) - likely benign g.11303830C>T - KANK2(NM_001136191.2):c.926G>A (p.R309Q), KANK2(NM_001136191.3):c.926G>A (p.(Arg309Gln)) - KANK2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.926G>A r.(?) p.(Arg309Gln) - likely benign g.11303830C>T - KANK2(NM_001136191.2):c.926G>A (p.R309Q), KANK2(NM_001136191.3):c.926G>A (p.(Arg309Gln)) - KANK2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1038C>T r.(?) p.(Ala346=) - likely benign g.11303718G>A - KANK2(NM_001136191.2):c.1038C>T (p.A346=) - KANK2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1274C>T r.(?) p.(Ser425Leu) - benign g.11289372G>A - KANK2(NM_001136191.2):c.1274C>T (p.S425L) - KANK2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1436C>T r.(?) p.(Pro479Leu) - benign g.11289129G>A - KANK2(NM_001136191.2):c.1418-6C>T - KANK2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1528G>A r.(?) p.(Val510Met) - likely benign g.11289037C>T - KANK2(NM_001136191.2):c.1504G>A (p.V502M) - KANK2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1584C>T r.(?) p.(Asn528=) - likely benign g.11287454G>A - KANK2(NM_001136191.2):c.1560C>T (p.N520=) - KANK2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1612G>A r.(?) p.(Glu538Lys) - VUS g.11287426C>T g.11176750C>T KANK2(NM_001136191.2):c.1588G>A (p.(Glu530Lys)) - KANK2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1685C>T r.(?) p.(Ala562Val) - likely benign g.11287353G>A - KANK2(NM_001136191.2):c.1661C>T (p.A554V) - KANK2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1700G>T r.(?) p.(Arg567Leu) - likely benign g.11287338C>A - KANK2(NM_001136191.2):c.1676G>T (p.R559L) - KANK2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2010C>T r.(?) p.(Ile670=) - likely benign g.11285231G>A - KANK2(NM_001136191.2):c.1986C>T (p.I662=) - KANK2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2022C>T r.(?) p.(Asn674=) - likely benign g.11285219G>A - KANK2(NM_001136191.2):c.1998C>T (p.N666=) - KANK2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.2023G>A r.(?) p.(Gly675Ser) - VUS g.11285218C>T g.11174542C>T KANK2(NM_001136191.2):c.1999G>A (p.(Gly667Ser)) - KANK2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2060A>G r.(?) p.(Asn687Ser) - VUS g.11285181T>C - KANK2(NM_001136191.3):c.2036A>G (p.(Asn679Ser)) - KANK2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.2094T>C r.(?) p.(Gly698=) - benign g.11283798A>G - KANK2(NM_001136191.2):c.2070T>C (p.G690=) - KANK2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.2240del r.(?) p.(Gly747Aspfs*5) - pathogenic g.11280921del - KANK2(NM_001136191.2):c.2216delG (p.G739Dfs*5) - KANK2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2526+15G>A r.(=) p.(=) - likely benign g.11280538C>T - KANK2(NM_001136191.2):c.2502+15G>A - KANK2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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