All variants in the KIAA0586 gene

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

156 entries on 2 pages. Showing entries 1 - 100.
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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.-632T>G r.(?) p.(=) - VUS g.58894351T>G g.58427633T>G KIAA0586(NM_001244189.1):c.5T>G (p.F2C), KIAA0586(NM_001244189.2):c.5T>G (p.F2C) - KIAA0586_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.-632T>G r.(?) p.(=) - VUS g.58894351T>G - KIAA0586(NM_001244189.1):c.5T>G (p.F2C), KIAA0586(NM_001244189.2):c.5T>G (p.F2C) - KIAA0586_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-632T>G r.(?) p.(=) - VUS g.58894351T>G - KIAA0586(NM_001244189.1):c.5T>G (p.F2C), KIAA0586(NM_001244189.2):c.5T>G (p.F2C) - KIAA0586_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.-438T>G r.(?) p.(=) ACMG VUS g.58894545T>G g.58427827T>G - - KIAA0586_000102 - - - - Germline - - - - - Svetlana Gorokhova
+/. - c.38del r.(?) p.(Lys13ArgfsTer6) - pathogenic g.58895020del g.58428302del KIAA0586(NM_001329944.1):c.38delA (p.K13Rfs*6) - KIAA0586_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.42T>A r.(?) p.(Ile14=) - likely benign g.58895024T>A - KIAA0586(NM_001244189.2):c.78T>A (p.I26=) - KIAA0586_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.94dup r.(?) p.(His32Profs*8) - pathogenic g.58895076dup - KIAA0586(NM_001329943.2):c.94dupC (p.H32Pfs*8) - KIAA0586_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 c.94dup r.(?) p.(His32Profs*8) - likely pathogenic g.58895076dup g.58428358dup c.130dup; p.H44Pfs*8 - KIAA0586_000061 different transcript: NM_001244189.1(KIAA0586):c.130dup PubMed: Brooks 2018 - - Germline ? - - - - LOVD
+/. 4 c.94_95insC r.(?) p.(His32Profs*8) - pathogenic g.58895076_58895077insC - c.94insC - KIAA0586_000077 - PubMed: Summers 2017 - - Germline - - - - - LOVD
-?/. - c.199+23del r.(=) p.(=) - likely benign g.58895204del - KIAA0586(NM_001244189.2):c.235+23delT - KIAA0586_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.200-14C>A r.(=) p.(=) - likely benign g.58896067C>A - KIAA0586(NM_001244189.2):c.236-14C>A - KIAA0586_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.202T>A r.(?) p.(Ser68Thr) - likely benign g.58896083T>A - KIAA0586(NM_001244189.2):c.238T>A (p.S80T) - KIAA0586_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.247G>C r.(?) p.(Glu83Gln) - VUS g.58896128G>C - KIAA0586(NM_001329943.2):c.247G>C (p.E83Q) - KIAA0586_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.257T>C r.(?) p.(Met86Thr) - benign g.58896138T>C - KIAA0586(NM_001244189.2):c.293T>C (p.M98T) - KIAA0586_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.322_326del r.(?) p.(Glu108GlnfsTer7) - pathogenic g.58897417_58897421del g.58430699_58430703del KIAA0586(NM_001329944.2):c.322_326delGAGAA (p.E108Qfs*7) - KIAA0586_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.330_332del r.(?) p.(Asn110del) - VUS g.58897425_58897427del - KIAA0586(NM_001244189.2):c.366_368delCAA (p.N122del) - KIAA0586_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.392del r.(?) p.(Arg131LysfsTer4) - likely pathogenic g.58899157del g.58432439del KIAA0586(NM_001244189.1):c.428delG (p.(Arg143Lysfs*4)), KIAA0586(NM_001244189.2):c.428delG (p.R143Kfs*4), KIAA0586(NM_001329944.1):c.392delG (p.R1...) - KIAA0586_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.392del r.(?) p.(Arg131LysfsTer4) - pathogenic g.58899157del g.58432439del KIAA0586(NM_001244189.1):c.428delG (p.(Arg143Lysfs*4)), KIAA0586(NM_001244189.2):c.428delG (p.R143Kfs*4), KIAA0586(NM_001329944.1):c.392delG (p.R1...) - KIAA0586_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.392del r.(?) p.(Arg131LysfsTer4) - likely pathogenic g.58899157del g.58432439del KIAA0586(NM_001244189.1):c.428delG (p.(Arg143Lysfs*4)), KIAA0586(NM_001244189.2):c.428delG (p.R143Kfs*4), KIAA0586(NM_001329944.1):c.392delG (p.R1...) - KIAA0586_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.392del r.(?) p.(Arg131LysfsTer4) - pathogenic g.58899157del - KIAA0586(NM_001244189.1):c.428delG (p.(Arg143Lysfs*4)), KIAA0586(NM_001244189.2):c.428delG (p.R143Kfs*4), KIAA0586(NM_001329944.1):c.392delG (p.R1...) - KIAA0586_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 4 c.392del r.(?) p.(Arg131Lysfs*4) - likely pathogenic g.58899157del g.58432439del c.428del; p.R143Kfs*4 - KIAA0586_000016 different transcript: NM_001244189.1(KIAA0586):c.428del PubMed: Brooks 2018 - - Germline ? - - - - LOVD
+?/. 4 c.392del r.(?) p.(Arg131Lysfs*4) - likely pathogenic g.58899157del g.58432439del c.428del; p.R143Kfs*4 - KIAA0586_000016 different transcript: NM_001244189.1(KIAA0586):c.428del PubMed: Brooks 2018 - - Germline ? - - - - LOVD
+?/. 4 c.392del r.(?) p.(Arg131Lysfs*4) - likely pathogenic g.58899157del g.58432439del c.428del; p.R143Kfs*4 - KIAA0586_000016 different transcript: NM_001244189.1(KIAA0586):c.428del PubMed: Brooks 2018 - - Germline ? - - - - LOVD
+?/. 4 c.392del r.(?) p.(Arg131Lysfs*4) - likely pathogenic g.58899157del g.58432439del c.428del; p.R143Kfs*4 - KIAA0586_000016 different transcript: NM_001244189.1(KIAA0586):c.428del PubMed: Brooks 2018 - - Germline ? - - - - LOVD
+/. - c.392del r.(?) p.(Arg131LysfsTer4) - pathogenic g.58899157del - KIAA0586(NM_001244189.1):c.428delG (p.(Arg143Lysfs*4)), KIAA0586(NM_001244189.2):c.428delG (p.R143Kfs*4), KIAA0586(NM_001329944.1):c.392delG (p.R1...) - KIAA0586_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 6 c.392del r.(?) p.(Glu131Glyfs*32) - pathogenic g.58899157del - c.392del - KIAA0586_000016 - PubMed: Summers 2017 - - Germline - - - - - LOVD
+/. 6 c.392del r.(?) p.(Glu131Glyfs*32) - pathogenic g.58899157del - c.392del - KIAA0586_000016 - PubMed: Summers 2017 - - Germline - - - - - LOVD
+/. 6 c.392del r.(?) p.(Arg131Lysfs*4) - pathogenic g.58899157del - c.392delG - KIAA0586_000016 - PubMed: Summers 2017 - - Germline - - - - - LOVD
+/. 6 c.392del r.(?) p.(Glu131Glyfs*32) - pathogenic g.58899157del - c.392del - KIAA0586_000016 - PubMed: Summers 2017 - - Germline - - - - - LOVD
+?/. - c.392del r.(?) p.(Arg131Lysfs*4) ACMG likely pathogenic (recessive) g.58899157del g.58432439del - - KIAA0586_000016 - - - - Germline - - - - - Svetlana Gorokhova
+/. - c.392del r.(392del) p.(Arg131LysfsTer4) - pathogenic (recessive) g.58899157del g.58432439del 428del (Arg143LysfsTer4) - KIAA0586_000016 - PubMed: D'Abrusco 2025, Journal: D'Abrusco 2025 - - Germline - - - - - Johan den Dunnen
+/. - c.392del r.(392del) p.(Arg131LysfsTer4) - pathogenic (recessive) g.58899157del g.58432439del 428del (Arg143LysfsTer4) - KIAA0586_000016 - PubMed: D'Abrusco 2025, Journal: D'Abrusco 2025 - - Germline - - - - - Johan den Dunnen
+/. - c.392del r.(392del) p.(Arg131LysfsTer4) - pathogenic (recessive) g.58899157del g.58432439del 428del (Arg143LysfsTer4) - KIAA0586_000016 - PubMed: D'Abrusco 2025, Journal: D'Abrusco 2025 - - Germline - - - - - Johan den Dunnen
+/. - c.392del r.(392del) p.(Arg131LysfsTer4) - pathogenic (recessive) g.58899157del g.58432439del 428del (Arg143LysfsTer4) - KIAA0586_000016 - PubMed: D'Abrusco 2025, Journal: D'Abrusco 2025 - - Germline - - - - - Johan den Dunnen
-?/. - c.422T>C r.(?) p.(Met141Thr) - likely benign g.58909435T>C g.58442717T>C KIAA0586(NM_001244189.1):c.581T>C (p.(Met194Thr)) - KIAA0586_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 7i_10i c.586-350_1129+1117del r.spl p.(?) - likely pathogenic g.58910322_58918581del g.58443604_58451863del c.745-350_1288+1117del8260bp - KIAA0586_000068 different transcript: NM_001244189.1(KIAA0586):c.745-350_1288+1117del PubMed: Brooks 2018 - - Germline ? - - - - LOVD
+?/. 7i_10i c.586-350_1129+1117del r.spl p.(?) - likely pathogenic g.58910322_58918581del g.58443604_58451863del c.745-350_1288+1117del8260bp - KIAA0586_000068 different transcript: NM_001244189.1(KIAA0586):c.745-350_1288+1117del PubMed: Brooks 2018 - - Germline ? - - - - LOVD
+?/. 7i_10i c.586-350_1129+1117del r.spl p.(?) - likely pathogenic g.58910322_58918581del g.58443604_58451863del c.745-350_1288+1117del8260bp - KIAA0586_000068 different transcript: NM_001244189.1(KIAA0586):c.745-350_1288+1117del PubMed: Brooks 2018 - - Germline ? - - - - LOVD
+/. 6i_11i c.586-350_1129+1117del r.spl p.? - pathogenic g.58910322_58918581del - c.586-350_1129+1117del - KIAA0586_000068 - PubMed: Summers 2017 - - Germline - - - - - LOVD
+/. 6i_11i c.586-350_1129+1117del r.spl p.? - pathogenic g.58910322_58918581del - c.586-350_1129+1117del - KIAA0586_000068 - PubMed: Summers 2017 - - Germline - - - - - LOVD
+/. 6i_11i c.586-350_1129+1117del r.spl p.? - pathogenic g.58910322_58918581del - c.586-350_1129+1117del - KIAA0586_000068 - PubMed: Summers 2017 - - Germline - - - - - LOVD
+?/. - c.586-350_1129+1117del r.(586_1129del) p.? - likely pathogenic (recessive) g.58910322_58918581del g.58443604_58451863del del ex8-10 - KIAA0586_000068 - PubMed: D'Abrusco 2025, Journal: D'Abrusco 2025 - - Germline - - - - - Johan den Dunnen
+?/. - c.586-350_1129+1117del r.(586_1129del) p.? - likely pathogenic (recessive) g.58910322_58918581del g.58443604_58451863del del ex8-10 - KIAA0586_000068 - PubMed: D'Abrusco 2025, Journal: D'Abrusco 2025 - - Germline - - - - - Johan den Dunnen
+?/. - c.586-350_1129+1117del r.(586_1129del) p.? - likely pathogenic (recessive) g.58910322_58918581del g.58443604_58451863del del ex8-10 - KIAA0586_000068 - PubMed: D'Abrusco 2025, Journal: D'Abrusco 2025 - - Germline - - - - - Johan den Dunnen
+?/. - c.586-350_1129+1117del r.(586_1129del) p.? - likely pathogenic (recessive) g.58910322_58918581del g.58443604_58451863del del ex8-10 - KIAA0586_000068 - PubMed: D'Abrusco 2025, Journal: D'Abrusco 2025 - - Germline - - - - - Johan den Dunnen
-?/. - c.600G>A r.(?) p.(=) - likely benign g.58910686G>A - KIAA0586(NM_001244189.2):c.759G>A (p.L253=) - KIAA0586_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.698G>A r.(?) p.(Arg233Lys) - likely benign g.58910784G>A - KIAA0586(NM_001244189.2):c.857G>A (p.R286K), KIAA0586(NM_001329943.2):c.698G>A (p.R233K) - KIAA0586_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.698G>A r.(?) p.(Arg233Lys) - likely benign g.58910784G>A - KIAA0586(NM_001244189.2):c.857G>A (p.R286K), KIAA0586(NM_001329943.2):c.698G>A (p.R233K) - KIAA0586_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.704_705del r.(?) p.(Gln235ArgfsTer7) - pathogenic g.58910790_58910791del g.58444072_58444073del KIAA0586(NM_001244189.1):c.863_864del (p.(Gln288ArgfsTer7)) - KIAA0586_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.831C>T r.(?) p.(Leu277=) - pathogenic g.58915081C>T g.58448363C>T KIAA0586(NM_001244189.2):c.990C>T (p.L330=) - KIAA0586_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 7 c.831C>T r.(?) p.(Leu277=) - likely pathogenic g.58915081C>T g.58448363C>T c.990C>T; p.L330L - KIAA0586_000002 different transcript: NM_001244189.1(KIAA0586):c.990C>T PubMed: Brooks 2018 - - Germline ? - - - - LOVD
+?/. 9i c.961+1G>A r.spl p.(?) - likely pathogenic g.58915212G>A g.58448494G>A c.1120+1G>A - KIAA0586_000069 different transcript: NM_001244189.1(KIAA0586):c.1120+1G>A PubMed: Brooks 2018 - - Germline ? - - - - LOVD
+/. 9i c.961+1G>A r.spl? p.? - pathogenic g.58915212G>A - c.961+1G>A - KIAA0586_000069 - PubMed: Summers 2017 - - Germline - - - - - LOVD
-?/. - c.974A>T r.(?) p.(Glu325Val) - likely benign g.58917309A>T g.58450591A>T KIAA0586(NM_001244189.1):c.1133A>T (p.(Glu378Val)), KIAA0586(NM_001329943.2):c.974A>T (p.E325V), KIAA0586(NM_001329944.2):c.974A>T (p.E325V) - KIAA0586_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.974A>T r.(?) p.(Glu325Val) - likely benign g.58917309A>T - KIAA0586(NM_001244189.1):c.1133A>T (p.(Glu378Val)), KIAA0586(NM_001329943.2):c.974A>T (p.E325V), KIAA0586(NM_001329944.2):c.974A>T (p.E325V) - KIAA0586_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.974A>T r.(?) p.(Glu325Val) - VUS g.58917309A>T - KIAA0586(NM_001244189.1):c.1133A>T (p.(Glu378Val)), KIAA0586(NM_001329943.2):c.974A>T (p.E325V), KIAA0586(NM_001329944.2):c.974A>T (p.E325V) - KIAA0586_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.983A>T r.(?) p.(Asp328Val) - VUS g.58917318A>T - KIAA0586(NM_001244189.2):c.1142A>T (p.D381V) - KIAA0586_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 9 c.990C>T r.(?) p.(Leu330Leu) - pathogenic g.58917325C>T - c.990C>T - KIAA0586_000078 - PubMed: Summers 2017 - - Germline - - - - - LOVD
+/. - c.1000C>T r.(?) p.(Gln334*) - pathogenic g.58917335C>T g.58450617C>T - - KIAA0586_000051 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs796052128 Germline - 1/2784 individuals - - - Mohammed Faruq
+?/. 8 c.1000C>T r.(?) p.(Gln334*) - likely pathogenic g.58917335C>T g.58450617C>T c.1159C>T; p.Q387* - KIAA0586_000051 different transcript: NM_001244189.1(KIAA0586):c.1159C>T PubMed: Brooks 2018 - - Germline ? - - - - LOVD
+/. 10 c.1000C>T r.(?) p.(Gln334*) - pathogenic g.58917335C>T - c.1000C>T - KIAA0586_000051 - PubMed: Summers 2017 - - Germline - - - - - LOVD
-/. - c.1056A>G r.(?) p.(Ser352=) - benign g.58917391A>G g.58450673A>G KIAA0586(NM_001329944.1):c.1056A>G (p.S352=) - KIAA0586_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1097A>T r.(?) p.(Glu366Val) - likely benign g.58917432A>T - KIAA0586(NM_001244189.2):c.1256A>T (p.E419V) - KIAA0586_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1119G>A r.(?) p.(Ser373=) - benign g.58917454G>A g.58450736G>A - - KIAA0586_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1130-16A>C r.(=) p.(=) - benign g.58920052A>C - KIAA0586(NM_001244189.2):c.1289-16A>C - KIAA0586_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1163A>G r.(?) p.(Asn388Ser) - VUS g.58920101A>G g.58453383A>G N441S - KIAA0586_000023 - PubMed: Pinz 2018 - - Germline - - - - - Johan den Dunnen
+/. - c.1208_1215del r.(?) p.(Ser403Ter) - pathogenic g.58920146_58920153del g.58453428_58453435del KIAA0586(NM_001329944.2):c.1208_1215delCACTAACT (p.S403*) - KIAA0586_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.1230A>G r.(?) p.(Gly410=) - benign g.58920168A>G g.58453450A>G KIAA0586(NM_001329944.1):c.1230A>G (p.G410=) - KIAA0586_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1240G>A r.(?) p.(Glu414Lys) - likely benign g.58920178G>A - KIAA0586(NM_001244189.2):c.1399G>A (p.E467K) - KIAA0586_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 10i c.1254-1G>C r.spl? p.? - pathogenic g.58923419G>C - c.1254-1G>C - KIAA0586_000079 - PubMed: Summers 2017 - - Germline - - - - - LOVD
+/. - c.1254-1G>C r.spl? p.? - pathogenic g.58923419G>C - KIAA0586(NM_001244189.1):c.1413-1G>C (p.?), KIAA0586(NM_001244189.2):c.1413-1G>C - KIAA0586_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.1254-1G>C r.spl? p.? - pathogenic g.58923419G>C - KIAA0586(NM_001244189.1):c.1413-1G>C (p.?), KIAA0586(NM_001244189.2):c.1413-1G>C - KIAA0586_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1390C>A r.(?) p.(Leu464Ile) - likely benign g.58924504C>A - KIAA0586(NM_001329943.2):c.1390C>A (p.L464I) - KIAA0586_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1393C>T r.(?) p.(Pro465Ser) - VUS g.58924507C>T - KIAA0586(NM_001329943.2):c.1393C>T (p.P465S) - KIAA0586_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1424A>T r.(?) p.(Gln475Leu) - VUS g.58924538A>T g.58457820A>T KIAA0586(NM_001244189.1):c.1583A>T (p.(Gln528Leu)) - KIAA0586_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1439C>T r.(?) p.(Thr480Ile) - likely benign g.58924553C>T - KIAA0586(NM_001244189.2):c.1598C>T (p.T533I) - KIAA0586_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1543G>A r.(?) p.(Ala515Thr) - likely benign g.58924657G>A - KIAA0586(NM_001244189.2):c.1702G>A (p.A568T) - KIAA0586_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.1570T>A r.(?) p.(Leu524Ile) - VUS g.58924684T>A - T1729A - KIAA0586_000076 - PubMed: Chen 2017 - - Germline - - - - - Johan den Dunnen
+/. - c.1656+1G>T r.spl? p.? - pathogenic g.58925264G>T g.58458546G>T - - KIAA0586_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1657-1140G>A r.(=) p.(=) - VUS g.58926564G>A - KIAA0586(NM_001244189.1):c.1819G>A (p.(Glu607Lys)) - KIAA0586_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1657-964A>G r.(=) p.(=) - likely benign g.58926740A>G g.58460022A>G KIAA0586(NM_001329943.2):c.1836A>G (p.L612=) - KIAA0586_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1657-953G>C r.(=) p.(=) - VUS g.58926751G>C g.58460033G>C KIAA0586(NM_001244189.1):c.2006G>C (p.(Gly669Ala)) - KIAA0586_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1657-915G>T r.(=) p.(=) - VUS g.58926789G>T - KIAA0586(NM_001244189.2):c.2043+1G>T - KIAA0586_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.1657-915G>T r.(=) p.(=) - pathogenic g.58926789G>T - KIAA0586(NM_001244189.2):c.2043+1G>T - KIAA0586_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1657-9T>A r.(=) p.(=) - likely benign g.58927695T>A - KIAA0586(NM_001329943.2):c.1885-9T>A - KIAA0586_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1736A>G r.(?) p.(His579Arg) - VUS g.58927783A>G - KIAA0586(NM_001329943.3):c.1964A>G (p.(His655Arg)) - KIAA0586_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.1747del r.(?) p.(Gly586Aspfs*20) - likely pathogenic g.58927794del - KIAA0586(NM_001244189.2):c.2134delC (p.G715Dfs*20) - KIAA0586_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1832-3T>C r.spl? p.? - likely benign g.58932550T>C - KIAA0586(NM_001244189.1):c.2219-3T>C (p.?), KIAA0586(NM_001244189.2):c.2219-3T>C - KIAA0586_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1832-3T>C r.spl? p.? - likely benign g.58932550T>C - KIAA0586(NM_001244189.1):c.2219-3T>C (p.?), KIAA0586(NM_001244189.2):c.2219-3T>C - KIAA0586_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1943A>G r.(?) p.(Gln648Arg) - likely benign g.58932664A>G g.58465946A>G KIAA0586(NM_001244189.1):c.2330A>G (p.(Gln777Arg)), KIAA0586(NM_001329943.2):c.2171A>G (p.Q724R) - KIAA0586_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1943A>G r.(?) p.(Gln648Arg) - VUS g.58932664A>G - KIAA0586(NM_001244189.1):c.2330A>G (p.(Gln777Arg)), KIAA0586(NM_001329943.2):c.2171A>G (p.Q724R) - KIAA0586_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1973C>G r.(?) p.(Pro658Arg) - likely benign g.58932694C>G - KIAA0586(NM_001244189.1):c.2360C>G (p.(Pro787Arg)) - KIAA0586_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.2089C>G r.(?) p.(Pro697Ala) - VUS g.58934515C>G - - - KIAA0586_000054 - PubMed: Krygier 2019 - - Germline - - - - - Johan den Dunnen
+?/. - c.2096C>A r.(?) p.(Thr699Asn) - VUS g.58934522C>A - - - KIAA0586_000055 - PubMed: Krygier 2019 - - Germline - - - - - Johan den Dunnen
-/. - c.2300T>C r.(?) p.(Leu767Pro) - benign g.58937416T>C g.58470698T>C - - KIAA0586_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.2308del r.(?) p.(Val770CysfsTer5) - pathogenic g.58937424del g.58470706del KIAA0586(NM_001244189.2):c.2695delG (p.V899Cfs*5) - KIAA0586_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.2308del r.(?) p.(Val770CysfsTer5) - pathogenic g.58937424del g.58470706del KIAA0586(NM_001244189.2):c.2695delG (p.V899Cfs*5) - KIAA0586_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.2325+11G>A r.(=) p.(=) - benign g.58937452G>A g.58470734G>A - - KIAA0586_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2407-10T>C r.(=) p.(=) - VUS g.58941315T>C - KIAA0586(NM_001329943.2):c.2635-10T>C - KIAA0586_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2507C>T r.(?) p.(Pro836Leu) - likely benign g.58941425C>T - KIAA0586(NM_001244189.2):c.2894C>T (p.P965L) - KIAA0586_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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