All variants in the KANK1 gene

Information The variants shown are described using the NM_015158.3 transcript reference sequence.

70 entries on 1 page. Showing entries 1 - 70.
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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.-300734_*7453764del r.0? p.0? - pathogenic g.204104_8198999del g.204104_8198999del - - GLDC_000111 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
-?/. - c.9C>T r.(?) p.(His3=) - likely benign g.676981C>T g.676981C>T KANK1(NM_001256877.2):c.9C>T (p.H3=) - KANK1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.95T>C r.(?) p.(Phe32Ser) - VUS g.710861T>C g.710861T>C - - KANK1_000058 18 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs183362306 Germline - 18/2794 individuals - 0 - Mohammed Faruq
-?/. - c.149A>T r.(?) p.(Asp50Val) - likely benign g.710915A>T g.710915A>T - - KANK1_000028 14 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61737971 Germline - 14/2791 individuals - 0 - Mohammed Faruq
?/. - c.185del r.(?) p.(Asn62ThrfsTer47) - VUS g.710951del g.710951del KANK1(NM_001256877.3):c.185delA (p.N62Tfs*47) - KANK1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.205C>T r.(?) p.(Pro69Ser) - VUS g.710971C>T g.710971C>T - - KANK1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.206C>T r.(?) p.(Pro69Leu) - likely benign g.710972C>T g.710972C>T KANK1(NM_001256876.1):c.206C>T (p.(Pro69Leu)) - KANK1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.221C>T r.(?) p.(Pro74Leu) - likely benign g.710987C>T g.710987C>T KANK1(NM_001256877.2):c.221C>T (p.P74L) - KANK1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.453C>T r.(?) p.(Asn151=) - likely benign g.711219C>T - KANK1(NM_001256877.2):c.453C>T (p.N151=) - KANK1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.484C>T r.(?) p.(Arg162Trp) - VUS g.711250C>T g.711250C>T KANK1(NM_001256877.3):c.484C>T (p.R162W) - KANK1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.565G>A r.(?) p.(Gly189Ser) - likely benign g.711331G>A g.711331G>A KANK1(NM_001256876.1):c.565G>A (p.(Gly189Ser)), KANK1(NM_015158.4):c.565G>A (p.G189S) - KANK1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.565G>A r.(?) p.(Gly189Ser) - likely benign g.711331G>A g.711331G>A - - KANK1_000034 42 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs200751333 Germline - 42/2795 individuals - 0 - Mohammed Faruq
-?/. - c.565G>A r.(?) p.(Gly189Ser) - likely benign g.711331G>A - KANK1(NM_001256876.1):c.565G>A (p.(Gly189Ser)), KANK1(NM_015158.4):c.565G>A (p.G189S) - KANK1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.631C>T r.(?) p.(Gln211Ter) - VUS g.711397C>T g.711397C>T - - KANK1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.633G>C r.(?) p.(Gln211His) - likely benign g.711399G>C g.711399G>C KANK1(NM_001256876.1):c.633G>C (p.(Gln211His)) - KANK1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.758C>G r.(?) p.(Thr253Ser) - VUS g.711524C>G g.711524C>G KANK1(NM_001256876.1):c.758C>G (p.(Thr253Ser)) - KANK1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.781C>T r.(?) p.(Gln261Ter) - VUS g.711547C>T g.711547C>T KANK1(NM_015158.3):c.781C>T (p.(Gln261Ter)) - KANK1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.972T>A r.(?) p.(Tyr324Ter) - VUS g.711738T>A g.711738T>A KANK1(NM_001256877.2):c.972T>A (p.Y324*) - KANK1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.977C>T r.(?) p.(Ala326Val) - VUS g.711743C>T g.711743C>T KANK1(NM_001256876.1):c.977C>T (p.(Ala326Val)) - KANK1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1196G>A r.(?) p.(Arg399Gln) - likely benign g.711962G>A g.711962G>A KANK1(NM_001256877.3):c.1196G>A (p.R399Q) - KANK1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.1269G>C r.(?) p.(Lys423Asn) - likely benign g.712035G>C - KANK1(NM_001256877.2):c.1269G>C (p.K423N) - KANK1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1344G>C r.(?) p.(Met448Ile) - likely benign g.712110G>C g.712110G>C KANK1(NM_001256877.2):c.1344G>C (p.M448I) - KANK1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1364T>G r.(?) p.(Ile455Ser) - likely benign g.712130T>G g.712130T>G KANK1(NM_001256876.1):c.1364T>G (p.(Ile455Ser)) - KANK1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1371G>C r.(?) p.(Leu457=) - benign g.712137G>C g.712137G>C KANK1(NM_001256877.3):c.1371G>C (p.L457=) - KANK1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1390T>G r.(?) p.(Ser464Ala) - benign g.712156T>G g.712156T>G KANK1(NM_001256877.3):c.1390T>G (p.S464A) - KANK1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1448G>A r.(?) p.(Arg483Gln) - likely benign g.712214G>A g.712214G>A KANK1(NM_001256877.2):c.1448G>A (p.R483Q) - KANK1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1491G>A r.(?) p.(Ser497=) - likely benign g.712257G>A g.712257G>A KANK1(NM_001256877.2):c.1491G>A (p.S497=) - KANK1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1491G>A r.(?) p.(Ser497=) - likely benign g.712257G>A g.712257G>A KANK1(NM_001256877.2):c.1491G>A (p.S497=) - KANK1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1707G>C r.(?) p.(Trp569Cys) - VUS g.712473G>C - KANK1(NM_015158.4):c.1707G>C (p.W569C) - KANK1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1732C>T r.(?) p.(His578Tyr) - VUS g.712498C>T g.712498C>T KANK1(NM_001256876.1):c.1732C>T (p.(His578Tyr)) - KANK1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1991C>T r.(?) p.(Ala664Val) - VUS g.712757C>T g.712757C>T KANK1(NM_001256876.1):c.1991C>T (p.(Ala664Val)) - KANK1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.2058C>T r.(?) p.(Thr686=) - likely benign g.712824C>T - KANK1(NM_001256877.2):c.2058C>T (p.T686=) - KANK1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2064G>A r.(?) p.(Thr688=) - likely benign g.712830G>A g.712830G>A KANK1(NM_001256877.3):c.2064G>A (p.T688=) - KANK1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.2261T>G r.(?) p.(Val754Gly) - VUS g.713027T>G - KANK1(NM_001256877.2):c.2261T>G (p.V754G) - KANK1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2505_2525del r.(?) p.(Gln837_Glu843del) - VUS g.713271_713291del g.713271_713291del KANK1(NM_001256876.1):c.2497_2517del (p.(Gln837_Glu843del)) - KANK1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2544G>C r.(?) p.(=) - likely benign g.713310G>C g.713310G>C - - KANK1_000026 - PubMed: van Rootselaar 2017 - - Germline no - - 0 - Johan den Dunnen
-?/. - c.2544G>C r.(?) p.(Leu848=) - likely benign g.713310G>C - KANK1(NM_001256877.2):c.2544G>C (p.L848=) - KANK1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.2582C>T r.(?) p.(Ser861Phe) - VUS g.713348C>T g.713348C>T KANK1(NM_001256876.1):c.2582C>T (p.(Ser861Phe)) - KANK1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.2615C>G r.(?) p.(Ser872Cys) - VUS g.713381C>G g.713381C>G - - KANK1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.2686G>C r.(?) p.(Gly896Arg) - likely benign g.713452G>C g.713452G>C KANK1(NM_001256876.1):c.2686G>C (p.(Gly896Arg)), KANK1(NM_001256877.2):c.2686G>C (p.G896R) - KANK1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2686G>C r.(?) p.(Gly896Arg) - likely benign g.713452G>C - KANK1(NM_001256876.1):c.2686G>C (p.(Gly896Arg)), KANK1(NM_001256877.2):c.2686G>C (p.G896R) - KANK1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.2698+1G>A r.spl p.? - likely pathogenic (dominant) g.713465G>A g.713465G>A - - KANK1_000060 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
-?/. - c.2954A>G r.(?) p.(Lys985Arg) - likely benign g.731215A>G g.731215A>G KANK1(NM_001256876.1):c.2954A>G (p.(Lys985Arg)) - KANK1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3061T>C r.(?) p.(Ser1021Pro) - VUS g.732433T>C g.732433T>C KANK1(NM_001256876.1):c.3061T>C (p.(Ser1021Pro)) - KANK1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.3126C>A r.(?) p.(Asp1042Glu) - VUS g.732498C>A - - - KANK1_000059 - PubMed: Fliedner 2020, Journal: Fliedner 2020 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
-/. - c.3164T>C r.(?) p.(Ile1055Thr) - benign g.732536T>C g.732536T>C KANK1(NM_001256877.3):c.3164T>C (p.I1055T) - KANK1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+?/. - c.3208C>T r.(?) p.(Gln1070Ter) - likely pathogenic g.732580C>T g.732580C>T KANK1(NM_001256877.3):c.3208C>T (p.Q1070*) - KANK1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.3237C>G r.(?) p.(Ile1079Met) - pathogenic g.732609C>G g.732609C>G NM_153186: c.C2763G; p.I921M - KANK1_000001 - PubMed: Karaca 2015 - - Germline - - - 0 - Johan den Dunnen
-/. - c.3333+19C>G r.(=) p.(=) - benign g.734854C>G g.734854C>G KANK1(NM_001256877.3):c.3333+19C>G - KANK1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.3371G>A r.(?) p.(Arg1124His) - likely benign g.738322G>A - KANK1(NM_001256877.2):c.3371G>A (p.R1124H), KANK1(NM_015158.4):c.3371G>A (p.R1124H) - KANK1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.3371G>A r.(?) p.(Arg1124His) - VUS g.738322G>A - KANK1(NM_001256877.2):c.3371G>A (p.R1124H), KANK1(NM_015158.4):c.3371G>A (p.R1124H) - KANK1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.3454C>T r.(?) p.(Arg1152Cys) - VUS g.738405C>T g.738405C>T KANK1(NM_001256876.1):c.3454C>T (p.(Arg1152Cys)) - KANK1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.3526G>A r.(?) p.(Glu1176Lys) - likely benign g.738477G>A - KANK1(NM_001256877.2):c.3526G>A (p.E1176K) - KANK1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.3553+5G>A r.spl? p.? - likely benign g.738509G>A g.738509G>A KANK1(NM_001256876.1):c.3553+5G>A (p.?) - KANK1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.3554-5del r.spl? p.? - benign g.740787del - KANK1(NM_015158.4):c.3554-5delT - KANK1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.3554-5dup r.spl? p.? - benign g.740787dup - KANK1(NM_015158.4):c.3554-5dupT - KANK1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.3554-5T>A r.spl? p.? - likely benign g.740787T>A g.740787T>A KANK1(NM_001256876.1):c.3554-5T>A (p.?) - KANK1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3554-5_3554-4insTA r.spl? p.? - likely benign g.740787_740788insTA g.740787_740788insTA KANK1(NM_001256876.1):c.3554-5_3554-4insTA (p.?) - KANK1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.3554-4dup r.spl? p.? - VUS g.740788dup g.740788dup KANK1(NM_001256876.1):c.3554-5_3554-4insA (p.?) - KANK1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3609G>A r.(?) p.(Ala1203=) - likely benign g.740847G>A - KANK1(NM_001256877.2):c.3609G>A (p.A1203=) - KANK1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3609G>A r.(?) p.(Ala1203=) - likely benign g.740847G>A - KANK1(NM_001256877.2):c.3609G>A (p.A1203=) - KANK1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.3663C>T r.(?) p.(Phe1221=) - benign g.740901C>T g.740901C>T KANK1(NM_001256877.3):c.3663C>T (p.F1221=) - KANK1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.3696+4A>G r.spl? p.? - likely benign g.740938A>G - KANK1(NM_015158.4):c.3696+4A>G - KANK1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.3834= r.(=) p.(Gly1278=) - benign g.742342A>G g.742342A>G KANK1(NM_001256877.3):c.3834A>G (p.G1278=) - KANK1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.3880G>A r.(?) p.(Gly1294Ser) - VUS g.742388G>A g.742388G>A KANK1(NM_001256877.2):c.3880G>A (p.G1294S), KANK1(NM_001256877.3):c.3880G>A (p.G1294S) - KANK1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.3880G>A r.(?) p.(Gly1294Ser) - likely benign g.742388G>A g.742388G>A KANK1(NM_001256877.2):c.3880G>A (p.G1294S), KANK1(NM_001256877.3):c.3880G>A (p.G1294S) - KANK1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.3912G>A r.(?) p.(Ala1304=) - benign g.744505G>A - KANK1(NM_015158.4):c.3912G>A (p.A1304=) - KANK1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.3996G>A r.(?) p.(Pro1332=) - VUS g.744589G>A g.744589G>A KANK1(NM_001256877.3):c.3996G>A (p.P1332=) - KANK1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.4006A>G r.(?) p.(Arg1336Gly) - VUS g.745182A>G g.745182A>G KANK1(NM_001256876.1):c.4006A>G (p.(Arg1336Gly)) - KANK1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+?/. - c.4042C>T r.(?) p.(Arg1348*) - likely pathogenic (dominant) g.745218C>T g.745218C>T - - KANK1_000061 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
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