Full data view for gene COL12A1

Ehlers Danlos Syndrome Variant Database


Information The variants shown are described using the NM_004370.5 transcript reference sequence.

247 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-899792_*2087198del r.0? p.0? Maternal (confirmed) - pathogenic g.73709065_76815249del - - - KHDC3L_000005 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected parents M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
+/. _1_28_ c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(?_75540881)_(83110141_?)del - 6q13-q14.1 (75,540,881-83,110,141) - COL12A1_000092 deletion incl. COL12A1 PubMed: O'Grady 2016 - - De novo - - - - - DNA arrayCGH - - MDC Pat81 PubMed: O'Grady 2016 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.108A>C r.(?) p.(Ile36=) Unknown - likely benign g.75904629T>G g.75194913T>G COL12A1(NM_004370.6):c.108A>C (p.I36=) - COL12A1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.132A>G r.(?) p.(Ser44=) Unknown - likely benign g.75904605T>C g.75194889T>C COL12A1(NM_004370.6):c.132A>G (p.S44=) - COL12A1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.132A>G r.(?) p.(Ser44=) Unknown - likely benign g.75904605T>C - COL12A1(NM_004370.6):c.132A>G (p.S44=) - COL12A1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.196C>T r.(?) p.(Pro66Ser) Unknown - VUS g.75902066G>A - - - COL12A1_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.236C>T r.(?) p.(Thr79Ile) Unknown - VUS g.75902026G>A - - - COL12A1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.350C>T r.(?) p.(Ser117Leu) Unknown - VUS g.75901461G>A g.75191745G>A - - COL12A1_000144 - - - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG blood - ? - - - - - Italy - - - - - 1 Lucia Micale
-?/. - c.394+133C>T r.(=) p.(=) Unknown - likely benign g.75901284G>A - COL12A1(NM_004370.6):c.394+133C>T - COL12A1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.469A>G r.(?) p.(Lys157Glu) Unknown - VUS g.75899457T>C - COL12A1(NM_004370.6):c.469A>G (p.K157E) - COL12A1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.489T>C r.(?) p.(Ile163=) Unknown - likely benign g.75899437A>G g.75189721A>G COL12A1(NM_004370.6):c.489T>C (p.I163=) - COL12A1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.511G>C r.(?) p.(Asp171His) Unknown - VUS g.75899415C>G - COL12A1(NM_004370.6):c.511G>C (p.(Asp171His), p.D171H) - COL12A1_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.511G>C r.(?) p.(Asp171His) Unknown - VUS g.75899415C>G - COL12A1(NM_004370.6):c.511G>C (p.(Asp171His), p.D171H) - COL12A1_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.597A>G r.(?) p.(Gln199=) Unknown - likely benign g.75899329T>C - COL12A1(NM_004370.6):c.597A>G (p.Q199=) - COL12A1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.607C>A r.(?) p.(Leu203Ile) Unknown - VUS g.75899319G>T - COL12A1(NM_004370.6):c.607C>A (p.L203I) - COL12A1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.626A>C r.(?) p.(Lys209Thr) Unknown - benign g.75899300T>G g.75189584T>G COL12A1(NM_004370.6):c.626A>C (p.K209T) - COL12A1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.673T>G r.(?) p.(Tyr225Asp) Unknown - likely benign g.75899083A>C g.75189367A>C - - COL12A1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.695C>T r.(?) p.(Thr232Met) Unknown - likely benign g.75899061G>A - COL12A1(NM_004370.6):c.695C>T (p.T232M) - COL12A1_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 7 c.796A>C r.(?) p.(Asn266His) Paternal (inferred) - VUS g.75898960T>G g.75189244T>G - - COL12A1_000143 - - - - Germline - - - - - DNA SEQ, SEQ-NG blood - ? - - - - - Italy - - - - - 1 Lucia Micale
-/. - c.834T>G r.(?) p.(Ala278=) Unknown - benign g.75898241A>C g.75188525A>C COL12A1(NM_004370.6):c.834T>G (p.A278=) - COL12A1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.922A>T r.(?) p.(Ile308Phe) Unknown - likely benign g.75898153T>A - COL12A1(NM_004370.6):c.922A>T (p.I308F) - COL12A1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.922A>T r.(?) p.(Ile308Phe) Unknown - VUS g.75898153T>A g.75188437T>A - - COL12A1_000117 - Leone 2023, submitted - - Germline - - - - - DNA SEQ, SEQ-NG blood - ? P-0179 Leone 2023, submitted - - - Italy - - - - - 1 Maria Pia Leone
?/. 8 c.922A>T r.(?) p.(Ile308Phe) Unknown - VUS g.75898153T>A g.75188437T>A - - COL12A1_000117 - Leone 2023, submitted - - Germline - - - - - DNA SEQ, SEQ-NG blood - ? P-0190 Leone 2023, submitted - - - Italy - - - - - 1 Maria Pia Leone
-?/. - c.997+14G>A r.(=) p.(=) Unknown - likely benign g.75898064C>T g.75188348C>T COL12A1(NM_004370.6):c.997+14G>A - COL12A1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1006C>T r.(?) p.Pro336Ser Unknown ACMG VUS g.75893852G>A g.75184136G>A - - COL12A1_000056 not regarded causative since missense variants in COL12A1 other than glycine substitutions within the triple helical domain are not regarded as pathogenic. - - rs375542964 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
-?/. - c.1015A>G r.(?) p.(Asn339Asp) Unknown - likely benign g.75893843T>C - COL12A1(NM_004370.5):c.1015A>G (p.N339D) - COL12A1_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1043A>T r.(?) p.(Lys348Ile) Unknown - VUS g.75893815T>A g.75184099T>A COL12A1(NM_004370.6):c.1043A>T (p.K348I) - COL12A1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.1112T>C r.(?) p.(Met371Thr) Unknown - VUS g.75893746A>G g.75184030A>G - - COL12A1_000125 - PubMed: Karthikeyan 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - screened DMD, COL6A3, COL12A1 DMD MDCRC/1867/DBI-1509 PubMed: Karthikeyan 2024 - M yes India - - - yes - 1 Lakshmi Bremadesam
-?/. - c.1117G>T r.(?) p.(Ala373Ser) Unknown - likely benign g.75893741C>A g.75184025C>A COL12A1(NM_004370.5):c.1117G>T (p.A373S), COL12A1(NM_004370.6):c.1117G>T (p.A373S) - COL12A1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1117G>T r.(?) p.(Ala373Ser) Unknown - likely benign g.75893741C>A - COL12A1(NM_004370.5):c.1117G>T (p.A373S), COL12A1(NM_004370.6):c.1117G>T (p.A373S) - COL12A1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1150C>T r.(?) p.(Pro384Ser) Unknown - VUS g.75893708G>A - COL12A1(NM_004370.6):c.1150C>T (p.P384S) - COL12A1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1152T>C r.(?) p.(Pro384=) Unknown - likely benign g.75893706A>G - COL12A1(NM_004370.6):c.1152T>C (p.P384=) - COL12A1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1152T>C r.(?) p.(Pro384=) Unknown - likely benign g.75893706A>G - COL12A1(NM_004370.6):c.1152T>C (p.P384=) - COL12A1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1171G>T r.(?) p.(Val391Phe) Unknown - VUS g.75893687C>A - COL12A1(NM_004370.6):c.1171G>T (p.V391F) - COL12A1_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1181T>C r.(?) p.(Leu394Pro) Unknown - VUS g.75893677A>G - COL12A1(NM_004370.6):c.1181T>C (p.L394P) - COL12A1_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1275G>A r.(?) p.(Met425Ile) Unknown - likely benign g.75893583C>T - COL12A1(NM_004370.5):c.1275G>A (p.(Met425Ile)) - COL12A1_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1326G>A r.(?) p.(Val442=) Unknown - likely benign g.75893331C>T g.75183615C>T COL12A1(NM_004370.6):c.1326G>A (p.V442=) - COL12A1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 10 c.1483A>G r.(?) p.(Lys495Glu) Unknown - VUS g.75893174T>C g.75183458T>C - - COL12A1_000142 - - - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG blood - ? - - - - - Italy - - - - - 1 Lucia Micale
?/. - c.1531C>T r.(?) p.(Pro511Ser) Unknown - VUS g.75893126G>A - COL12A1(NM_004370.6):c.1531C>T (p.(Pro511Ser)) - COL12A1_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1551A>G r.(?) p.(Thr517=) Unknown - benign g.75893106T>C g.75183390T>C COL12A1(NM_004370.6):c.1551A>G (p.T517=) - COL12A1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1644C>A r.(?) p.(=) Unknown - likely benign g.75893013G>T - COL12A1(NM_004370.6):c.1644C>A (p.I548=) - COL12A1_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1821G>A r.(?) p.(Arg607=) Unknown - likely benign g.75892836C>T - COL12A1(NM_004370.6):c.1821G>A (p.R607=) - COL12A1_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1871T>G r.(?) p.(Leu624Trp) Unknown - VUS g.75892786A>C - COL12A1(NM_004370.6):c.1871T>G (p.L624W) - COL12A1_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1892-8_1892-7dup r.(=) p.(=) Unknown - benign g.75890945_75890946dup g.75181229_75181230dup COL12A1(NM_004370.5):c.1892-8_1892-7dup (p.(=)), COL12A1(NM_004370.5):c.1892-8_1892-7dupTT, COL12A1(NM_004370.6):c.1892-8_1892-7dupTT - COL12A1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1892-8_1892-7dup r.(=) p.(=) Unknown - benign g.75890945_75890946dup - COL12A1(NM_004370.5):c.1892-8_1892-7dup (p.(=)), COL12A1(NM_004370.5):c.1892-8_1892-7dupTT, COL12A1(NM_004370.6):c.1892-8_1892-7dupTT - COL12A1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1892-8_1892-7dup r.(=) p.(=) Unknown - likely benign g.75890945_75890946dup - COL12A1(NM_004370.5):c.1892-8_1892-7dup (p.(=)), COL12A1(NM_004370.5):c.1892-8_1892-7dupTT, COL12A1(NM_004370.6):c.1892-8_1892-7dupTT - COL12A1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1892-8_1892-7dup r.(=) p.(=) Unknown - benign g.75890945_75890946dup - COL12A1(NM_004370.5):c.1892-8_1892-7dup (p.(=)), COL12A1(NM_004370.5):c.1892-8_1892-7dupTT, COL12A1(NM_004370.6):c.1892-8_1892-7dupTT - COL12A1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1892-8_1892-6del r.(=) p.(=) Unknown - benign g.75890933_75890935del g.75181217_75181219del COL12A1(NM_004370.6):c.1892-8_1892-6delTTA - COL12A1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1892-7del r.(=) p.(=) Unknown - benign g.75890946del g.75181230del COL12A1(NM_004370.6):c.1892-7delT - COL12A1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1892-7dup r.(=) p.(=) Unknown - benign g.75890946dup g.75181230dup COL12A1(NM_004370.5):c.1892-7dupT, COL12A1(NM_004370.5):c.1892-7dupT (p.(=)), COL12A1(NM_004370.6):c.1892-7dupT - COL12A1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1892-7dup r.(=) p.(=) Unknown - benign g.75890946dup g.75181230dup COL12A1(NM_004370.5):c.1892-7dupT, COL12A1(NM_004370.5):c.1892-7dupT (p.(=)), COL12A1(NM_004370.6):c.1892-7dupT - COL12A1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1892-7dup r.(=) p.(=) Unknown - likely benign g.75890946dup g.75181230dup COL12A1(NM_004370.5):c.1892-7dupT, COL12A1(NM_004370.5):c.1892-7dupT (p.(=)), COL12A1(NM_004370.6):c.1892-7dupT - COL12A1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1892-7dup r.(=) p.(=) Unknown - benign g.75890946dup g.75181230dup COL12A1(NM_004370.5):c.1892-7dupT, COL12A1(NM_004370.5):c.1892-7dupT (p.(=)), COL12A1(NM_004370.6):c.1892-7dupT - COL12A1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1892-7_1892-6del r.(=) p.(=) Unknown - likely benign g.75890933_75890934del - COL12A1(NM_004370.6):c.1892-7_1892-6delTA - COL12A1_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1892-7_1892-6insC r.(=) p.(=) Unknown - likely benign g.75890933_75890934insG - COL12A1(NM_004370.6):c.1892-7_1892-6insC - COL12A1_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2007G>A r.(?) p.(Ala669=) Unknown - benign g.75890812C>T g.75181096C>T COL12A1(NM_004370.6):c.2007G>A (p.A669=) - COL12A1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2038C>G r.(?) p.(Pro680Ala) Unknown - VUS g.75890781G>C - COL12A1(NM_004370.5):c.2038C>G (p.P680A) - COL12A1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.2062C>G r.(?) p.(Leu688Val) Maternal (inferred) - VUS g.75890757G>C g.75181041G>C - - COL12A1_000141 - - - - Germline - - - - - DNA SEQ, SEQ-NG blood - ? - - - - - Italy - - - - - 1 Lucia Micale
-/. - c.2086T>C r.(?) p.(Leu696=) Unknown - benign g.75890733A>G g.75181017A>G COL12A1(NM_004370.6):c.2086T>C (p.L696=) - COL12A1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2164+18C>A r.(=) p.(=) Unknown - benign g.75890637G>T g.75180921G>T COL12A1(NM_004370.6):c.2164+18C>A - COL12A1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2165-146C>T r.(=) p.(=) Unknown - likely benign g.75887797G>A - COL12A1(NM_004370.6):c.2165-146C>T - COL12A1_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2260C>T r.(?) p.(Arg754*) Unknown - VUS g.75887556G>A - COL12A1(NM_004370.6):c.2260C>T (p.R754*) - COL12A1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2275C>T r.(?) p.(Pro759Ser) Unknown - VUS g.75887541G>A g.75177825G>A COL12A1(NM_004370.5):c.2275C>T (p.(Pro759Ser)) - COL12A1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2393C>T r.(?) p.(Ser798Leu) Unknown - VUS g.75887423G>A g.75177707G>A COL12A1(NM_004370.5):c.2393C>T (p.(Ser798Leu)) - COL12A1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2437+13T>C r.(=) p.(=) Unknown - benign g.75887366A>G g.75177650A>G COL12A1(NM_004370.6):c.2437+13T>C - COL12A1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2481G>A r.(?) p.(Thr827=) Unknown - VUS g.75884983C>T g.75175267C>T COL12A1(NM_004370.5):c.2481G>A (p.(=)), COL12A1(NM_004370.6):c.2481G>A (p.T827=) - COL12A1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2481G>A r.(?) p.(Thr827=) Unknown - benign g.75884983C>T g.75175267C>T COL12A1(NM_004370.5):c.2481G>A (p.(=)), COL12A1(NM_004370.6):c.2481G>A (p.T827=) - COL12A1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 13 c.2496A>T r.(?) p.(Leu832Phe) Unknown - VUS g.75884968T>A g.75175252T>A - - COL12A1_000158 - Leone 2023, submitted - - Germline - - - - - DNA SEQ, SEQ-NG blood - ? P-0187 Leone 2023, submitted - - - Italy - - - - - 1 Maria Pia Leone
?/. 13 c.2510C>T r.(?) p.(Ala837Val) Unknown - VUS g.75884954G>A g.75175238G>A - - COL12A1_000157 - Leone 2023, submitted - - Germline - - - - - DNA SEQ, SEQ-NG blood - STL P-0148 Leone 2023, submitted - - - Italy - - - - - 1 Maria Pia Leone
?/. 13 c.2510C>T r.(?) p.(Ala837Val) Unknown - VUS g.75884954G>A g.75175238G>A - - COL12A1_000157 - Leone 2023, submitted - - Germline - - - - - DNA SEQ, SEQ-NG blood - STL P-0148 Leone 2023, submitted - - - Italy - - - - - 1 Maria Pia Leone
-?/. - c.2637C>T r.(?) p.(Tyr879=) Unknown - likely benign g.75884827G>A g.75175111G>A COL12A1(NM_004370.6):c.2637C>T (p.Y879=) - COL12A1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2676A>C r.(?) p.(Gly892=) Unknown - likely benign g.75884788T>G - COL12A1(NM_004370.6):c.2676A>C (p.G892=) - COL12A1_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2696G>A r.(?) p.(Gly899Glu) Unknown - VUS g.75884768C>T g.75175052C>T COL12A1(NM_004370.5):c.2696G>A (p.(Gly899Glu)) - COL12A1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2711-15T>C r.(=) p.(=) Unknown - benign g.75875510A>G - COL12A1(NM_004370.6):c.2711-15T>C - COL12A1_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2772T>C r.(?) p.(Tyr924=) Unknown - benign g.75875434A>G g.75165718A>G COL12A1(NM_004370.6):c.2772T>C (p.Y924=) - COL12A1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2965G>A r.(?) p.(Gly989Arg) Unknown - likely benign g.75875241C>T g.75165525C>T COL12A1(NM_004370.6):c.2965G>A (p.G989R) - COL12A1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2984-2A>G r.spl? p.? Unknown - VUS g.75866241T>C - COL12A1(NM_004370.5):c.2984-2A>G (p.?) - COL12A1_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3070G>A r.(?) p.(Val1024Ile) Unknown - likely benign g.75866153C>T g.75156437C>T COL12A1(NM_004370.6):c.3070G>A (p.V1024I) - COL12A1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3079C>T r.(?) p.(Arg1027Cys) Unknown - likely benign g.75866144G>A - COL12A1(NM_004370.5):c.3079C>T (p.(Arg1027Cys)) - COL12A1_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3160C>T r.(?) p.(Arg1054Ter) Unknown - likely pathogenic g.75866063G>A g.75156347G>A - - COL12A1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 15 c.3168G>T r.(?) p.(Gln1056His) Unknown - VUS g.75866055C>A g.75156339C>A - - COL12A1_000156 - Leone 2023, submitted - - Germline - - - - - DNA SEQ, SEQ-NG blood - ? P-0188 Leone 2023, submitted - - - Italy - - - - - 1 Maria Pia Leone
-?/. - c.3231G>A r.(?) p.(Arg1077=) Unknown - likely benign g.75865992C>T - COL12A1(NM_004370.6):c.3231G>A (p.R1077=) - COL12A1_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 15 c.3247A>G r.(?) p.(Thr1083Ala) Maternal (inferred) - VUS g.75865976T>C g.75156260T>C - - COL12A1_000140 - - - - Germline - - - - - DNA SEQ, SEQ-NG blood - ? - - - - - Italy - - - - - 1 Lucia Micale
-?/. - c.3251-74G>T r.(=) p.(=) Unknown - likely benign g.75865644C>A - COL12A1(NM_004370.6):c.3251-74G>T - COL12A1_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3251-66A>G r.(=) p.(=) Unknown - likely benign g.75865636T>C g.75155920T>C COL12A1(NM_004370.6):c.3251-66A>G - COL12A1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3340G>A r.(?) p.(Val1114Met) Unknown - VUS g.75865481C>T - COL12A1(NM_004370.6):c.3340G>A (p.V1114M) - COL12A1_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3376G>C r.(?) p.(Asp1126His) Maternal (confirmed) - VUS g.75865445C>G g.75155729C>G - - COL12A1_000170 no variant 2nd chromosome; present in healthy mother PubMed: Westra 2019 - - Germline - - - - - DNA SEQ-NG - WES NMD Pat93 PubMed: Westra 2019 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.3444-98T>C r.(=) p.(=) Unknown - likely benign g.75864351A>G - COL12A1(NM_004370.6):c.3444-98T>C - COL12A1_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3631G>A r.(?) p.(Gly1211Ser) Unknown - VUS g.75862133C>T - COL12A1(NM_004370.5):c.3631G>A (p.(Gly1211Ser)) - COL12A1_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3652G>A r.(?) p.(Val1218Met) Unknown - likely benign g.75862112C>T g.75152396C>T COL12A1(NM_004370.6):c.3652G>A (p.V1218M) - COL12A1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3652G>A r.(?) p.(Val1218Met) Unknown - likely benign g.75862112C>T - COL12A1(NM_004370.6):c.3652G>A (p.V1218M) - COL12A1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3753G>A r.(?) p.(Trp1251Ter) Unknown - VUS g.75861929C>T - COL12A1(NM_004370.6):c.3753G>A (p.W1251*) - COL12A1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3767A>G r.(?) p.(His1256Arg) Unknown - VUS g.75861915T>C - COL12A1(NM_004370.6):c.3767A>G (p.H1256R) - COL12A1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3831C>G r.(?) p.(Leu1277=) Unknown - likely benign g.75861851G>C - COL12A1(NM_004370.6):c.3831C>G (p.L1277=) - COL12A1_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 20 c.3881C>G r.(?) p.(Ala1294Gly) Unknown - VUS g.75861702G>C g.75151986G>C - - COL12A1_000139 - - - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG blood - ? - - - - - Italy - - - - - 1 Lucia Micale
?/. - c.4000+5G>A r.spl? p.? Unknown - VUS g.75861578C>T - COL12A1(NM_004370.5):c.4000+5G>A (p.?), COL12A1(NM_004370.6):c.4000+5G>A - COL12A1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4000+5G>A r.spl? p.? Unknown - likely benign g.75861578C>T - COL12A1(NM_004370.5):c.4000+5G>A (p.?), COL12A1(NM_004370.6):c.4000+5G>A - COL12A1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4000+5G>A r.spl? p.? Unknown - likely benign g.75861578C>T - COL12A1(NM_004370.5):c.4000+5G>A (p.?), COL12A1(NM_004370.6):c.4000+5G>A - COL12A1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4000+94A>G r.(=) p.(=) Unknown - likely benign g.75861489T>C - COL12A1(NM_004370.6):c.4000+94A>G - COL12A1_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4001-10G>A r.(=) p.(=) Unknown - benign g.75861013C>T g.75151297C>T COL12A1(NM_004370.6):c.4001-10G>A - COL12A1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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