All variants in the COL9A3 gene

Information The variants shown are described using the NM_001853.3 transcript reference sequence.

211 entries on 3 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.-4769C>G r.(?) p.(=) - VUS g.61443648C>G g.62812296C>G OGFR(NM_007346.2):c.681C>G (p.(His227Gln)) - OGFR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-4631C>G r.(?) p.(=) - VUS g.61443786C>G g.62812434C>G OGFR(NM_007346.2):c.819C>G (p.(Phe273Leu)) - OGFR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-4314C>A r.(?) p.(=) - likely benign g.61444103C>A g.62812751C>A OGFR(NM_007346.2):c.1136C>A (p.(Pro379His)) - COL9A3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-4173C>T r.(?) p.(=) - likely benign g.61444244C>T g.62812892C>T OGFR(NM_007346.2):c.1277C>T (p.(Thr426Met)) - COL9A3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-3877_-3818del r.(?) p.(=) - likely benign g.61444540_61444599del g.62813188_62813247del OGFR(NM_007346.2):c.1573_1632del (p.(Ser525_Pro544del)) - OGFR_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-3862G>A r.(?) p.(=) - VUS g.61444555G>A g.62813203G>A OGFR(NM_007346.2):c.1588G>A (p.(Ala530Thr)) - OGFR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-3859G>A r.(?) p.(=) - VUS g.61444558G>A g.62813206G>A OGFR(NM_007346.2):c.1591G>A (p.(Gly531Arg)) - OGFR_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-3817C>A r.(?) p.(=) - likely benign g.61444600C>A - OGFR(NM_007346.2):c.1633C>A (p.(Arg545Ser)) - COL9A3_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-3802G>A r.(?) p.(=) - likely benign g.61444615G>A g.62813263G>A OGFR(NM_007346.2):c.1648G>A (p.(Ala550Thr)) - COL9A3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-3799G>A r.(?) p.(=) - VUS g.61444618G>A g.62813266G>A OGFR(NM_007346.2):c.1651G>A (p.(Gly551Arg)) - OGFR_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-3784del r.(?) p.(=) - VUS g.61444633del g.62813281del OGFR(NM_007346.2):c.1666delG (p.(Glu556ArgfsTer158)) - COL9A3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-3782_-3772del r.(?) p.(=) - VUS g.61444635_61444645del g.62813283_62813293del OGFR(NM_007346.2):c.1668_1678del (p.(Ser557AspfsTer33)) - OGFR_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-3780del r.(?) p.(=) - VUS g.61444637del g.62813285del OGFR(NM_007346.2):c.1670del (p.(Ser557ThrfsTer157)) - OGFR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-3776_-3718del r.(?) p.(=) - VUS g.61444641_61444699del g.62813289_62813347del OGFR(NM_007346.2):c.1672_1730del (p.(Ser559IlefsTer15)) - OGFR_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-3763_-3716del r.(?) p.(=) - VUS g.61444654_61444701del g.62813302_62813349del OGFR(NM_007346.2):c.1683_1730del (p.(Gly563_Pro578del)) - OGFR_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-3757_-3698del r.(?) p.(=) - likely benign g.61444660_61444719del g.62813308_62813367del OGFR(NM_007346.2):c.1693_1752del (p.(Arg565_Pro584del)) - OGFR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-3580C>T r.(?) p.(=) - likely benign g.61444837C>T g.62813485C>T OGFR(NM_007346.3):c.1870C>T (p.P624S) - OGFR_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-3562_-3503del r.(?) p.(=) - VUS g.61444855_61444914del g.62813503_62813562del OGFR(NM_007346.2):c.1874_1933del (p.(Ala627_Pro646del)) - OGFR_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.19T>A r.(?) p.(Cys7Ser) - likely benign g.61448435T>A g.62817083T>A COL9A3(NM_001853.3):c.19T>A (p.(Cys7Ser)) - COL9A3_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.50G>A r.(?) p.(Gly17Glu) - benign g.61448466G>A g.62817114G>A COL9A3(NM_001853.4):c.50G>A (p.G17E) - COL9A3_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.50G>A r.(?) p.(Gly17Glu) - benign g.61448466G>A g.62817114G>A COL9A3(NM_001853.4):c.50G>A (p.G17E) - COL9A3_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.50G>A r.(?) p.(Gly17Glu) - benign g.61448466G>A - COL9A3(NM_001853.4):c.50G>A (p.G17E) - COL9A3_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.79-7G>A r.(=) p.(=) - likely benign g.61448912G>A g.62817560G>A COL9A3(NM_001853.4):c.79-7G>A - COL9A3_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.86G>T r.(?) p.(Gly29Val) - VUS g.61448926G>T - - - COL9A3_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.93C>A r.(?) p.(Pro31=) - benign g.61448933C>A g.62817581C>A COL9A3(NM_001853.4):c.93C>A (p.P31=) - COL9A3_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.97C>T r.(?) p.(Pro33Ser) - VUS g.61448937C>T - COL9A3(NM_001853.3):c.97C>T (p.(Pro33Ser)) - COL9A3_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.102_110del r.(?) p.(Pro39_Gly41del) - VUS g.61448942_61448950del g.62817590_62817598del COL9A3(NM_001853.3):c.90_98del (p.(Gly32_Pro34del)) - COL9A3_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.104G>A r.(?) p.(Gly35Asp) - likely pathogenic g.61448944G>A - - - COL9A3_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 c.107_116del r.(?) p.(Pro36Argfs*49) ACMG pathogenic (recessive) g.61448947_61448956del g.62817595_62817604del - - COL9A3_000095 - PubMed: Rad 2022 - - Germline yes - - - - Barbara Vona
-?/. - c.110C>T r.(?) p.(Pro37Leu) - likely benign g.61448950C>T g.62817598C>T COL9A3(NM_001853.3):c.110C>T (p.(Pro37Leu)), COL9A3(NM_001853.4):c.110C>T (p.P37L) - COL9A3_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.110C>T r.(?) p.(Pro37Leu) - likely benign g.61448950C>T - COL9A3(NM_001853.3):c.110C>T (p.(Pro37Leu)), COL9A3(NM_001853.4):c.110C>T (p.P37L) - COL9A3_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.116C>G r.(?) p.(Pro39Arg) - likely benign g.61448956C>G g.62817604C>G COL9A3(NM_001853.3):c.116C>G (p.(Pro39Arg)) - COL9A3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.129C>T r.(?) p.(Pro43=) - benign g.61448969C>T g.62817617C>T COL9A3(NM_001853.4):c.129C>T (p.P43=) - COL9A3_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/? 2i c.148-2A>T r.148_183del p.Glu51_Gly62del - pathogenic g.61449868A>T g.62818516A>T IVS2-2A>T - COL9A3_000001 normal 2nd chromosome PubMed: Paassilta 1999, OMIM:var0001 - - Unknown - - - - - LOVD
+?/. - c.148-2del r.spl? p.? - likely pathogenic g.61449868del g.62818516del - - COL9A3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 2i c.148-1G>A r.spl? p.? - pathogenic g.61449869G>A g.62818517G>A IVS2-1G>A - COL9A3_000002 normal 2nd chromosome PubMed: Lohiniva 2000, OMIM:var0002 - - Unknown - - - - - LOVD
+/? 2i c.148-1G>A r.148_183del p.Glu51_Gly62del - pathogenic g.61449869G>A g.62818517G>A IVS2-1G>A - COL9A3_000002 normal 2nd chromosome; mapped by linkage PubMed: Bönnemann 2000, OMIM:var0002 - - Unknown - - - - - LOVD
-?/. - c.182C>T r.(?) p.(Pro61Leu) - likely benign g.61449904C>T g.62818552C>T COL9A3(NM_001853.3):c.182C>T (p.(Pro61Leu)) - COL9A3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/? 3i c.183+5G>A r.[79_183del, 148_183del] p.[Arg27_Pro61del, Glu51_Gly62del] - pathogenic g.61449910G>A g.62818558G>A - - COL9A3_000005 normal 2nd chromosome PubMed: Nakashima 2005, OMIM:var0004 - - Germline - - - - - LOVD
?/. - c.194G>A r.(?) p.(Gly65Glu) - VUS g.61450584G>A - COL9A3(NM_001853.4):c.194G>A (p.(Gly65Glu)) - COL9A3_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.209C>T r.(?) p.(Pro70Leu) - likely benign g.61450599C>T g.62819247C>T COL9A3(NM_001853.3):c.209C>T (p.(Pro70Leu)), COL9A3(NM_001853.4):c.209C>T (p.P70L) - COL9A3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.209C>T r.(?) p.(Pro70Leu) - likely benign g.61450599C>T - COL9A3(NM_001853.3):c.209C>T (p.(Pro70Leu)), COL9A3(NM_001853.4):c.209C>T (p.P70L) - COL9A3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.218C>T r.(?) p.(Pro73Leu) - VUS g.61450608C>T - - - COL9A3_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.242T>A r.(?) p.(Leu81Gln) - VUS g.61450632T>A - COL9A3(NM_001853.3):c.242T>A (p.(Leu81Gln)) - COL9A3_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.245C>T r.(?) p.(Pro82Leu) - VUS g.61450635C>T g.62819283C>T COL9A3(NM_001853.3):c.245C>T (p.(Pro82Leu)) - COL9A3_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.255+8C>T r.(=) p.(=) - likely benign g.61450653C>T g.62819301C>T COL9A3(NM_001853.3):c.255+8C>T (p.(=)), COL9A3(NM_001853.4):c.255+8C>T - COL9A3_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.255+8C>T r.(=) p.(=) - likely benign g.61450653C>T - COL9A3(NM_001853.3):c.255+8C>T (p.(=)), COL9A3(NM_001853.4):c.255+8C>T - COL9A3_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.255+18_255+20dup r.(=) p.(=) - benign g.61450663_61450665dup - COL9A3(NM_001853.4):c.255+16_255+18dupCCT - COL9A3_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.268C>T r.(?) p.(Arg90*) - pathogenic (recessive) g.61451293C>T g.62819941C>T - - COL9A3_000084 - - - - Germline yes - - - - Peter Sparber
-?/. - c.280C>T r.(?) p.(Pro94Ser) - likely benign g.61451305C>T g.62819953C>T COL9A3(NM_001853.3):c.280C>T (p.(Pro94Ser)), COL9A3(NM_001853.4):c.280C>T (p.P94S) - COL9A3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.280C>T r.(?) p.(Pro94Ser) - benign g.61451305C>T g.62819953C>T COL9A3(NM_001853.3):c.280C>T (p.(Pro94Ser)), COL9A3(NM_001853.4):c.280C>T (p.P94S) - COL9A3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.307C>T r.(?) p.(Arg103Trp) - benign g.61451332C>T g.62819980C>T COL9A3(NM_001853.4):c.307C>T (p.R103W, p.(Arg103Trp)) - COL9A3_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/? 5 c.307C>T r.(?) p.(Arg103Trp) - likely pathogenic g.61451332C>T g.62819980C>T - - COL9A3_000003 - PubMed: Paassilta 2001, OMIM:var0003 - - Unknown - - - - - LOVD
?/? 5 c.307C>T r.(?) p.(Arg103Trp) - VUS g.61451332C>T g.62819980C>T - - COL9A3_000003 - - - rs61734651 Unknown - - - - - LOVD
-/. - c.307C>T r.(?) p.(Arg103Trp) - benign g.61451332C>T - COL9A3(NM_001853.4):c.307C>T (p.R103W, p.(Arg103Trp)) - COL9A3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.307C>T r.(?) p.(Arg103Trp) - likely benign g.61451332C>T - COL9A3(NM_001853.4):c.307C>T (p.R103W, p.(Arg103Trp)) - COL9A3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.308G>A r.(?) p.(Arg103Gln) - likely benign g.61451333G>A g.62819981G>A COL9A3(NM_001853.3):c.308G>A (p.(Arg103Gln)), COL9A3(NM_001853.4):c.308G>A (p.R103Q) - COL9A3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.308G>A r.(?) p.(Arg103Gln) - benign g.61451333G>A g.62819981G>A COL9A3(NM_001853.3):c.308G>A (p.(Arg103Gln)), COL9A3(NM_001853.4):c.308G>A (p.R103Q) - COL9A3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/? 5 c.308G>A r.(?) p.(Arg103Gln) - VUS g.61451333G>A g.62819981G>A - - COL9A3_000007 - PubMed: Asamura 2005 - - Unknown - 6/318 cases - - - LOVD
-/? 5 c.308G>A r.(?) p.(Arg103Gln) - benign g.61451333G>A g.62819981G>A - - COL9A3_000007 - PubMed: Asamura 2005 - - Unknown - 4/300 controls - - - LOVD
?/. - c.326C>G r.(?) p.(Pro109Arg) - VUS g.61452549C>G - COL9A3(NM_001853.3):c.326C>G (p.(Pro109Arg)) - COL9A3_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.331C>T r.(?) p.(Pro111Ser) - VUS g.61452554C>T - COL9A3(NM_001853.3):c.331C>T (p.(Pro111Ser)) - COL9A3_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.333G>A r.(?) p.(=) - likely benign g.61452556G>A - COL9A3(NM_001853.4):c.333G>A (p.(Pro111=)) - COL9A3_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.343G>C r.(?) p.(Gly115Arg) - VUS g.61452566G>C - COL9A3(NM_001853.4):c.343G>C (p.G115R, p.(Gly115Arg)) - COL9A3_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.343G>C r.(?) p.(Gly115Arg) - VUS g.61452566G>C - COL9A3(NM_001853.4):c.343G>C (p.G115R, p.(Gly115Arg)) - COL9A3_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 7 c.355del r.(?) p.(Leu119Serfs*10) ACMG pathogenic (recessive) g.61452868del g.62821516del 355delC - COL9A3_000097 - PubMed: Rad 2022 - - Germline yes - - - - Barbara Vona
?/. - c.370G>A r.(?) p.(Gly124Arg) - VUS g.61453109G>A - COL9A3(NM_001853.4):c.370G>A (p.G124R) - COL9A3_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.388G>A r.(?) p.(Gly130Ser) - VUS g.61453127G>A g.62821775G>A COL9A3(NM_001853.3):c.388G>A (p.(Gly130Ser)) - COL9A3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.410T>C r.(?) p.(Leu137Pro) - likely benign g.61453149T>C g.62821797T>C COL9A3(NM_001853.3):c.410T>C (p.(Leu137Pro)), COL9A3(NM_001853.4):c.410T>C (p.L137P) - COL9A3_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.410T>C r.(?) p.(Leu137Pro) - likely benign g.61453149T>C g.62821797T>C COL9A3(NM_001853.3):c.410T>C (p.(Leu137Pro)), COL9A3(NM_001853.4):c.410T>C (p.L137P) - COL9A3_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.410T>C r.(?) p.(Leu137Pro) - likely benign g.61453149T>C g.62821797T>C COL9A3(NM_001853.3):c.410T>C (p.(Leu137Pro)), COL9A3(NM_001853.4):c.410T>C (p.L137P) - COL9A3_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.422C>G r.(?) p.(Pro141Arg) - VUS g.61453161C>G - COL9A3(NM_001853.4):c.422C>G (p.(Pro141Arg)) - COL9A3_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.424-8C>T r.(=) p.(=) - likely benign g.61453455C>T - COL9A3(NM_001853.3):c.424-8C>T (p.(=)) - COL9A3_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.481C>T r.(?) p.(His161Tyr) - likely benign g.61453946C>T - COL9A3(NM_001853.4):c.481C>T (p.H161Y) - COL9A3_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.520-6C>T r.(=) p.(=) - likely benign g.61455791C>T g.62824439C>T COL9A3(NM_001853.3):c.520-6C>T (p.(=)), COL9A3(NM_001853.4):c.520-6C>T - COL9A3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.520-6C>T r.(=) p.(=) - benign g.61455791C>T g.62824439C>T COL9A3(NM_001853.3):c.520-6C>T (p.(=)), COL9A3(NM_001853.4):c.520-6C>T - COL9A3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.537G>A r.(?) p.(Pro179=) - likely benign g.61455814G>A - COL9A3(NM_001853.4):c.537G>A (p.P179=) - COL9A3_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 11 c.543_551del r.(?) p.(Pro181_Gly184del) - VUS g.61455820_61455828del g.62824468_62824476del 541_549del9 - COL9A3_000008 not in 600 control chromosomes PubMed: Asamura 2005 - - Unknown - 2/318 cases - - - LOVD
?/. - c.543_551del r.(?) p.(Pro185_Gly187del) - VUS g.61455820_61455828del - COL9A3(NM_001853.4):c.543_551del (p.(Pro185_Gly187del)), COL9A3(NM_001853.4):c.543_551delTCCCCCAGG (p.P185_G187del) - COL9A3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.543_551del r.(?) p.(Pro185_Gly187del) - VUS g.61455820_61455828del - COL9A3(NM_001853.4):c.543_551del (p.(Pro185_Gly187del)), COL9A3(NM_001853.4):c.543_551delTCCCCCAGG (p.P185_G187del) - COL9A3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.546C>T r.(?) p.(Pro182=) - benign g.61455823C>T - COL9A3(NM_001853.4):c.546C>T (p.P182=) - COL9A3_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.630+5A>C r.spl? p.? - likely benign g.61456378A>C - COL9A3(NM_001853.4):c.630+5A>C - COL9A3_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.630+115G>A r.(=) p.(=) - likely benign g.61456488G>A - COL9A3(NM_001853.4):c.630+115G>A - COL9A3_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.652C>T r.(?) p.(Pro218Ser) - likely benign g.61457190C>T - COL9A3(NM_001853.3):c.652C>T (p.(Pro218Ser)) - COL9A3_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.673G>A r.(?) p.(Val225Met) - VUS g.61457211G>A g.62825859G>A COL9A3(NM_001853.4):c.673G>A (p.V225M) - COL9A3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.673G>A r.(?) p.(Val225Met) - VUS g.61457211G>A - COL9A3(NM_001853.4):c.673G>A (p.V225M) - COL9A3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.685-4G>T r.spl? p.? - likely benign g.61457552G>T g.62826200G>T COL9A3(NM_001853.3):c.685-4G>T (p.?), COL9A3(NM_001853.4):c.685-4G>T - COL9A3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.685-4G>T r.spl? p.? - benign g.61457552G>T g.62826200G>T COL9A3(NM_001853.3):c.685-4G>T (p.?), COL9A3(NM_001853.4):c.685-4G>T - COL9A3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.738+1G>T r.(?) p.(?) - VUS g.61457610G>T - - - COL9A3_000114 - - - - CLASSIFICATION record - - - - - MobiDetails
-?/. - c.753C>G r.(?) p.(Phe251Leu) - likely benign g.61458133C>G - COL9A3(NM_001853.3):c.753C>G (p.(Phe251Leu)), COL9A3(NM_001853.4):c.753C>G (p.F251L) - COL9A3_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.753C>G r.(?) p.(Phe251Leu) - VUS g.61458133C>G - COL9A3(NM_001853.3):c.753C>G (p.(Phe251Leu)), COL9A3(NM_001853.4):c.753C>G (p.F251L) - COL9A3_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.753C>G r.(?) p.(Phe251Leu) - VUS g.61458133C>G - COL9A3(NM_001853.3):c.753C>G (p.(Phe251Leu)), COL9A3(NM_001853.4):c.753C>G (p.F251L) - COL9A3_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.755G>A r.(?) p.(Arg252Gln) - likely benign g.61458135G>A g.62826783G>A COL9A3(NM_001853.3):c.755G>A (p.(Arg252Gln)) - COL9A3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.763C>T r.(?) p.(Pro255Ser) - likely benign g.61458143C>T g.62826791C>T COL9A3(NM_001853.3):c.763C>T (p.(Pro255Ser)) - COL9A3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.779C>T r.(?) p.(Ala260Val) - likely benign g.61458159C>T - COL9A3(NM_001853.4):c.779C>T (p.A260V) - COL9A3_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.791C>T r.(?) p.(Ala264Val) - likely benign g.61458171C>T g.62826819C>T COL9A3(NM_001853.3):c.791C>T (p.(Ala264Val)) - COL9A3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.792G>A r.(?) p.(Ala264=) - VUS g.61458172G>A - COL9A3(NM_001853.3):c.792G>A (p.(Ala264=)) - COL9A3_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.792+19G>A r.(=) p.(=) - benign g.61458191G>A - COL9A3(NM_001853.4):c.792+19G>A - COL9A3_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.827G>A r.(?) p.(Arg276His) - VUS g.61458627G>A - COL9A3(NM_001853.3):c.827G>A (p.(Arg276His)) - COL9A3_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/? 16i c.843_846+4del r.[79_183del, 148_183del] p.[Arg27_Pro61del, Glu51_Gly62del] - pathogenic g.? - - - COL9A3_000006 normal 2nd chromosome PubMed: Baker 2011 - - Germline - - - - - LOVD
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