All variants in the DNAJC6 gene

Information The variants shown are described using the NM_001256864.1 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
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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.-44824T>C r.(?) p.(=) - likely benign g.65730605T>C g.65264922T>C DNAJC6(NM_014787.3):c.12T>C (p.S4=) - DNAJC6_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.105T>A r.(?) p.(Val35=) - VUS g.65775533T>A g.65309850T>A DNAJC6(NM_001256864.2):c.105T>A (p.V35=) - DNAJC6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.144G>T r.(?) p.(Arg48=) - likely benign g.65775572G>T g.65309889G>T DNAJC6(NM_001256864.2):c.144G>T (p.R48=) - DNAJC6_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.194-21G>T r.(=) p.(=) - likely benign g.65830297G>T g.65364614G>T DNAJC6(NM_001256864.2):c.194-21_194-20delGTinsTT - DNAJC6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.194-20_194-19insG r.(=) p.(=) - likely benign g.65830298_65830299insG g.65364615_65364616insG DNAJC6(NM_001256864.2):c.194-20_194-19insG - DNAJC6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.194-19T>G r.(=) p.(=) - benign g.65830299T>G g.65364616T>G DNAJC6(NM_001256864.2):c.194-19T>G - DNAJC6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.194-6del r.(=) p.(=) - likely benign g.65830312del g.65364629del DNAJC6(NM_001256864.2):c.194-6delT - DNAJC6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.194-6_194-5del r.spl? p.? - likely benign g.65830312_65830313del g.65364629_65364630del DNAJC6(NM_001256864.2):c.194-6_194-5delTG - DNAJC6_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.194-5G>T r.spl? p.? - likely benign g.65830313G>T g.65364630G>T DNAJC6(NM_001256864.2):c.194-5G>T - DNAJC6_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.194-4del r.spl? p.? - likely benign g.65830314del g.65364631del DNAJC6(NM_014787.3):c.23-4delG - DNAJC6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.195T>A r.(?) p.(Gly65=) - likely benign g.65830319T>A g.65364636T>A DNAJC6(NM_014787.3):c.24T>A (p.G8=) - DNAJC6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.216G>A r.(?) p.(Glu72=) - likely benign g.65830340G>A g.65364657G>A DNAJC6(NM_014787.3):c.45G>A (p.E15=) - DNAJC6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.344+6C>T r.(=) p.(=) - likely benign g.65830474C>T g.65364791C>T DNAJC6(NM_001256864.2):c.344+6C>T - DNAJC6_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.397A>T r.(?) p.(Met133Leu) - VUS g.65831733A>T g.65366050A>T DNAJC6(NM_001256864.2):c.397A>T (p.M133L) - DNAJC6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.491C>G r.(?) p.(Thr164Arg) - VUS g.65831827C>G g.65366144C>G DNAJC6(NM_001256864.2):c.491C>G (p.T164R) - DNAJC6_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.544-9C>T r.(=) p.(=) - benign g.65845076C>T g.65379393C>T DNAJC6(NM_001256864.2):c.544-9C>T, DNAJC6(NM_014787.3):c.373-9C>T - DNAJC6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.544-9C>T r.(=) p.(=) - benign g.65845076C>T g.65379393C>T DNAJC6(NM_001256864.2):c.544-9C>T, DNAJC6(NM_014787.3):c.373-9C>T - DNAJC6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.645T>C r.(?) p.(Asn215=) - likely benign g.65845186T>C g.65379503T>C DNAJC6(NM_001256864.2):c.645T>C (p.N215=) - DNAJC6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.678G>A r.(?) p.(Ala226=) - likely benign g.65849887G>A g.65384204G>A DNAJC6(NM_001256864.2):c.678G>A (p.A226=), DNAJC6(NM_014787.3):c.507G>A (p.A169=) - DNAJC6_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.678G>A r.(?) p.(Ala226=) - benign g.65849887G>A g.65384204G>A DNAJC6(NM_001256864.2):c.678G>A (p.A226=), DNAJC6(NM_014787.3):c.507G>A (p.A169=) - DNAJC6_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.678G>A r.(=) p.(=) - benign g.65849887G>A g.65384204G>A - - DNAJC6_000011 33 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61753391 Germline - 33/2794 individuals - 0 - Mohammed Faruq
-?/. - c.745A>G r.(?) p.(Ile249Val) - likely benign g.65849954A>G g.65384271A>G DNAJC6(NM_001256864.2):c.745A>G (p.I249V) - DNAJC6_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.801-2A>G r.(?) p.(?) - pathogenic g.65851393A>G g.65385710A>G - - DNAJC6_000036 - - - - Unknown - - - 0 - IMGAG
-?/. - c.829G>A r.(?) p.(Ala277Thr) - likely benign g.65851423G>A g.65385740G>A DNAJC6(NM_001256864.2):c.829G>A (p.A277T) - DNAJC6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.829G>A r.(?) p.(Ala277Thr) - VUS g.65851423G>A g.65385740G>A DNAJC6(NM_001256864.2):c.829G>A (p.A277T) - DNAJC6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1100G>T r.(?) p.(Arg367Leu) - VUS g.65852599G>T g.65386916G>T DNAJC6(NM_001256864.2):c.1100G>T (p.R367L) - DNAJC6_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1182A>G r.(?) p.(Leu394=) - likely benign g.65854087A>G - DNAJC6(NM_001256864.2):c.1182A>G (p.L394=) - DNAJC6_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1379C>G r.(?) p.(Ala460Gly) - VUS g.65855124C>G - DNAJC6(NM_001256864.2):c.1379C>G (p.A460G) - DNAJC6_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1456C>T r.(?) p.(Leu486Phe) - likely benign g.65855298C>T g.65389615C>T - - DNAJC6_000037 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs78141380 Germline - 1/2795 individuals - 0 - Mohammed Faruq
-?/. - c.1492T>A r.(?) p.(Cys498Ser) - likely benign g.65858137T>A g.65392454T>A DNAJC6(NM_001256864.2):c.1492T>A (p.C498S) - DNAJC6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1500G>A r.(?) p.(Glu500=) - benign g.65858145G>A g.65392462G>A DNAJC6(NM_001256864.2):c.1500G>A (p.E500=), DNAJC6(NM_014787.3):c.1329G>A (p.E443=) - DNAJC6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.1500G>A r.(?) p.(Glu500=) - benign g.65858145G>A g.65392462G>A DNAJC6(NM_001256864.2):c.1500G>A (p.E500=), DNAJC6(NM_014787.3):c.1329G>A (p.E443=) - DNAJC6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1506C>T r.(?) p.(His502=) - likely benign g.65858151C>T g.65392468C>T DNAJC6(NM_001256864.2):c.1506C>T (p.H502=), DNAJC6(NM_014787.3):c.1335C>T (p.H445=) - DNAJC6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.1506C>T r.(?) p.(His502=) - benign g.65858151C>T g.65392468C>T DNAJC6(NM_001256864.2):c.1506C>T (p.H502=), DNAJC6(NM_014787.3):c.1335C>T (p.H445=) - DNAJC6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1707T>C r.(?) p.(Ser569=) - likely benign g.65858352T>C g.65392669T>C DNAJC6(NM_001256864.2):c.1707T>C (p.S569=) - DNAJC6_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1829C>T r.(?) p.(Pro610Leu) - VUS g.65858474C>T g.65392791C>T DNAJC6(NM_001256864.2):c.1829C>T (p.P610L) - DNAJC6_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1983T>C r.(?) p.(Ser661=) - likely benign g.65860660T>C g.65394977T>C DNAJC6(NM_001256864.2):c.1983T>C (p.S661=), DNAJC6(NM_014787.3):c.1812T>C (p.S604=) - DNAJC6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.1983T>C r.(?) p.(Ser661=) - benign g.65860660T>C g.65394977T>C DNAJC6(NM_001256864.2):c.1983T>C (p.S661=), DNAJC6(NM_014787.3):c.1812T>C (p.S604=) - DNAJC6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.2010A>C r.(?) p.(Pro670=) - benign g.65860687A>C g.65395004A>C DNAJC6(NM_001256864.2):c.2010A>C (p.P670=), DNAJC6(NM_014787.3):c.1839A>C (p.P613=) - DNAJC6_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.2010A>C r.(?) p.(Pro670=) - benign g.65860687A>C g.65395004A>C DNAJC6(NM_001256864.2):c.2010A>C (p.P670=), DNAJC6(NM_014787.3):c.1839A>C (p.P613=) - DNAJC6_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2159C>T r.(?) p.(Ser720Leu) - likely benign g.65867495C>T g.65401812C>T DNAJC6(NM_001256864.2):c.2159C>T (p.S720L) - DNAJC6_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2183G>A r.(?) p.(Ser728Asn) - likely benign g.65867519G>A g.65401836G>A DNAJC6(NM_001256864.2):c.2183G>A (p.S728N), DNAJC6(NM_014787.3):c.2012G>A (p.S671N) - DNAJC6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.2183G>A r.(?) p.(Ser728Asn) - benign g.65867519G>A g.65401836G>A DNAJC6(NM_001256864.2):c.2183G>A (p.S728N), DNAJC6(NM_014787.3):c.2012G>A (p.S671N) - DNAJC6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2315C>A r.(?) p.(Pro772His) - VUS g.65871640C>A g.65405957C>A DNAJC6(NM_001256864.2):c.2315C>A (p.P772H) - DNAJC6_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.2317C>T r.(?) p.(Gln773Ter) - likely pathogenic g.65871642C>T g.65405959C>T - - DNAJC6_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2399A>C r.(?) p.(His800Pro) - VUS g.65871724A>C g.65406041A>C DNAJC6(NM_001256864.2):c.2399A>C (p.H800P) - DNAJC6_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2451T>G r.(?) p.(Pro817=) - likely benign g.65871776T>G g.65406093T>G DNAJC6(NM_001256864.2):c.2451T>G (p.P817=) - DNAJC6_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2832A>G r.(?) p.(Glu944=) - likely benign g.65878627A>G g.65412944A>G DNAJC6(NM_001256864.2):c.2832A>G (p.E944=) - DNAJC6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
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