Full data view for gene GDF6

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001001557.2 transcript reference sequence.

65 entries on 1 page. Showing entries 1 - 65.
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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.24C>G r.(?) p.(Leu8=) Unknown - likely benign g.97172897G>C g.96160669G>C GDF6(NM_001001557.3):c.24C>G (p.L8=) - GDF6_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.110T>G r.(?) p.(Leu37Arg) Unknown - likely benign g.97172811A>C g.96160583A>C GDF6(NM_001001557.3):c.110T>G (p.L37R) - GDF6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.112G>C r.(?) p.(Gly38Arg) Unknown - likely benign g.97172809C>G g.96160581C>G GDF6(NM_001001557.3):c.112G>C (p.G38R), GDF6(NM_001001557.4):c.112G>C (p.G38R) - GDF6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.112G>C r.(?) p.(Gly38Arg) Unknown - likely benign g.97172809C>G g.96160581C>G GDF6(NM_001001557.3):c.112G>C (p.G38R), GDF6(NM_001001557.4):c.112G>C (p.G38R) - GDF6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.125G>T r.(?) p.(Gly42Val) Unknown - likely benign g.97172796C>A - GDF6(NM_001001557.4):c.125G>T (p.(Gly42Val)) - GDF6_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.136C>T r.(?) p.(Arg46Cys) Unknown - likely pathogenic g.97172785G>A g.96160557G>A - - GDF6_000029 - PubMed: Huang 2015 - - Germline - - - - - DNA SEQ-NG - gene panel glaucoma G629 PubMed: Huang 2015 family F - China - - - - - 1 LOVD
+?/. - c.169G>C r.(?) p.(Asp57His) Unknown - likely pathogenic g.97172752C>G g.96160524C>G GDF6 c.169G>C, p.D57H - GDF6_000036 heterozygous PubMed: Asai-Coakwell 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease I-II:1 PubMed: Asai-Coakwell 2013 pedigree I F - Canada - - - - - 1 LOVD
-?/. - c.212C>T r.(?) p.(Pro71Leu) Unknown - likely benign g.97172709G>A - GDF6(NM_001001557.2):c.212C>T (p.(Pro71Leu)) - GDF6_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.248A>T r.(?) p.(Gln83Leu) Unknown - VUS g.97172673T>A - GDF6(NM_001001557.3):c.248A>T (p.Q83L) - GDF6_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.255G>T r.(?) p.(Pro85=) Unknown - benign g.97172666C>A g.96160438C>A GDF6(NM_001001557.3):c.255G>T (p.P85=), GDF6(NM_001001557.4):c.255G>T (p.P85=) - GDF6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.255G>T r.(?) p.(Pro85=) Unknown - benign g.97172666C>A g.96160438C>A GDF6(NM_001001557.3):c.255G>T (p.P85=), GDF6(NM_001001557.4):c.255G>T (p.P85=) - GDF6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.356A>G r.(?) p.(Gln119Arg) Unknown - likely benign g.97172565T>C - GDF6(NM_001001557.2):c.356A>G (p.(Gln119Arg)) - GDF6_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.406+28C>A r.(=) p.(=) Unknown - benign g.97172487G>T g.96160259G>T GDF6(NM_001001557.3):c.406+28C>A - GDF6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.407-6T>C r.(=) p.(=) Unknown - likely benign g.97157758A>G - GDF6(NM_001001557.4):c.407-6T>C - GDF6_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.420C>T r.(?) p.(His140=) Unknown - likely benign g.97157739G>A g.96145511G>A GDF6(NM_001001557.3):c.420C>T (p.H140=) - GDF6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.454G>A r.(?) p.(Val152Met) Unknown - VUS g.97157705C>T - GDF6(NM_001001557.4):c.454G>A (p.V152M) - GDF6_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.460A>C r.(?) p.(Met154Leu) Unknown - likely pathogenic g.97157699T>G - c.460A>c - GDF6_000030 - PubMed: Gonzalez Rodriguez 2010 - - Germline - - - - - DNA SEQ Blood - retinal disease - PubMed: Gonzalez Rodriguez 2010 - - - Mexico Mexican-mestizo - - - - 1 LOVD
-/. - c.468A>G r.(?) p.(Ser156=) Unknown - benign g.97157691T>C g.96145463T>C GDF6(NM_001001557.4):c.468A>G (p.S156=) - GDF6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.483G>T r.(?) p.(Leu161=) Unknown - likely benign g.97157676C>A g.96145448C>A GDF6(NM_001001557.3):c.483G>T (p.L161=), GDF6(NM_001001557.4):c.483G>T (p.L161=) - GDF6_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.483G>T r.(?) p.(Leu161=) Unknown - benign g.97157676C>A g.96145448C>A GDF6(NM_001001557.3):c.483G>T (p.L161=), GDF6(NM_001001557.4):c.483G>T (p.L161=) - GDF6_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.504_505del r.(?) p.(Phe169Serfs*269) Unknown - VUS g.97157656_97157657del - - - GDF6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.544G>C r.(?) p.(Gly182Arg) Unknown - VUS g.97157615C>G - GDF6(NM_001001557.3):c.544G>C (p.G182R) - GDF6_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.595G>A r.(?) p.(Ala199Thr) Unknown - VUS g.97157564C>T g.96145336C>T - - GDF6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.595G>A r.(?) p.(Ala199Thr) Unknown - VUS g.97157564C>T g.96145336C>T - - GDF6_000013 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 2615 PubMed: Haer-Wigman 2017 family - no Netherlands - - - - - 1 LOVD
+?/. - c.595G>A r.(?) p.(Ala199Thr) Unknown - likely pathogenic g.97157564C>T g.96145336C>T GDF6 c.595G>A, p.A199T - GDF6_000013 heterozygous PubMed: Asai-Coakwell 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease III-II:1 PubMed: Asai-Coakwell 2013 pedigree III F - Canada - - - - - 1 LOVD
?/. - c.616G>A r.(?) p.(Gly206Arg) Unknown - VUS g.97157543C>T - GDF6(NM_001001557.3):c.616G>A (p.G206R) - GDF6_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.625C>T r.(?) p.(Pro209Ser) Unknown - likely benign g.97157534G>A g.96145306G>A GDF6(NM_001001557.2):c.625C>T (p.(Pro209Ser)) - GDF6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.635G>A r.(?) p.(Trp212*) Unknown - VUS g.97157524C>T - - - GDF6_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.647A>G r.(?) p.(Asp216Gly) Unknown - VUS g.97157512T>C g.96145284T>C GDF6(NM_001001557.2):c.647A>G (p.(Asp216Gly)) - GDF6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.647A>G r.(?) p.(Asp216Gly) Unknown - VUS g.97157512T>C - GDF6(NM_001001557.2):c.647A>G (p.(Asp216Gly)) - GDF6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.660C>A r.(?) p.(Gly220=) Unknown - likely benign g.97157499G>T g.96145271G>T GDF6(NM_001001557.3):c.660C>A (p.G220=) - GDF6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.746C>A r.(?) p.(Ala249Glu) Unknown - pathogenic (dominant) g.97157413G>T g.96145185G>T - - GDF6_000015 - PubMed: Slavotinek 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Slavotinek 2015 - M - United States white - - - - 1 Johan den Dunnen
?/. - c.746C>A r.(?) p.(Ala249Glu) Unknown - VUS g.97157413G>T g.96145185G>T - - GDF6_000015 - PubMed: Bryant 2018 - rs121909352 Germline - - - - - DNA SEQ-NG - WES retinal disease JB301 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+/. 2 c.746C>A r.(?) p.(Ala249Glu) Unknown - pathogenic g.97157413G>T - c.746c>A - GDF6_000015 - PubMed: Gonzalez Rodriguez 2010 - - Germline - not in 400 controls - - - DNA SEQ Blood - retinal disease - PubMed: Gonzalez Rodriguez 2010 - - - Mexico Mexican-mestizo - - - - 1 LOVD
+/. 2 c.746C>A r.(?) p.(Ala249Glu) Unknown - pathogenic g.97157413G>T - c.746c>A - GDF6_000015 - PubMed: Gonzalez Rodriguez 2010 - - Germline - - - - - DNA SEQ Blood - retinal disease - PubMed: Gonzalez Rodriguez 2010 - - - Mexico Mexican-mestizo - - - - 1 LOVD
+/. 2 c.746C>A r.(?) p.(Ala249Glu) Unknown - pathogenic g.97157413G>T - c.746c>A - GDF6_000015 - PubMed: Gonzalez Rodriguez 2010 - - Germline - not in 400 controls - - - DNA SEQ Blood - retinal disease - PubMed: Gonzalez Rodriguez 2010 - - - Mexico Mexican-mestizo - - - - 1 LOVD
+?/. - c.746C>A r.(?) p.(Ala249Glu) Unknown - likely pathogenic g.97157413G>T g.96145185G>T c.746C-->A; p.Ala249Glu - GDF6_000015 no Sanger sequencing; heterozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG blood - KFS1 208 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.746C>A r.(?) p.(Ala249Glu) Unknown ACMG likely pathogenic g.97157413G>T g.96145185G>T GDF6:NM_001001557 c.C746A, p.A249E - GDF6_000015 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-188 PubMed: Rodriguez-Munoz 2020 family fRPN-71, proband F - Spain - - - - - 1 LOVD
+?/. - c.746C>A r.(?) p.(Ala249Glu) Unknown - likely pathogenic g.97157413G>T g.96145185G>T GDF6 c.746A>C, p.A249E - GDF6_000015 error in annotation, should be c.746C>A and not c.746A>C; heterozygous PubMed: Asai-Coakwell 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease I-II:1 PubMed: Asai-Coakwell 2013 pedigree I F - Canada - - - - - 1 LOVD
+?/. - c.746C>A r.(?) p.(Ala249Glu) Unknown - likely pathogenic g.97157413G>T g.96145185G>T GDF6 c.746A>C, p.A249E - GDF6_000015 error in annotation, should be c.746C>A and not c.746A>C; heterozygous PubMed: Asai-Coakwell 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease IV-II:1 PubMed: Asai-Coakwell 2013 pedigree IV F - Canada - - - - - 1 LOVD
-?/. - c.765G>T r.(?) p.(Pro255=) Unknown - likely benign g.97157394C>A - GDF6(NM_001001557.4):c.765G>T (p.P255=) - GDF6_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.800G>T r.(?) p.(Arg267Leu) Unknown - VUS g.97157359C>A - GDF6(NM_001001557.4):c.800G>T (p.(Arg267Leu)) - GDF6_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.815C>T r.(?) p.(Pro272Leu) Unknown - VUS g.97157344G>A - GDF6(NM_001001557.4):c.815C>T (p.P272L) - GDF6_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.852C>G r.(?) p.(Ser284=) Unknown - likely benign g.97157307G>C g.96145079G>C GDF6(NM_001001557.4):c.852C>G (p.S284=) - GDF6_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.870C>T r.(?) p.(Phe290=) Unknown - benign g.97157289G>A g.96145061G>A GDF6(NM_001001557.4):c.870C>T (p.F290=) - GDF6_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.876G>C r.(?) p.(Glu292Asp) Unknown - likely pathogenic g.97157283C>G g.96145055C>G GDF6 c.876G>A, p.E292D - GDF6_000035 error in annotation, should be c.876G>C and not c.876G>A; heterozygous PubMed: Asai-Coakwell 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease II-II:1 PubMed: Asai-Coakwell 2013 pedigree II F - Canada - - - - - 1 LOVD
?/. - c.901G>A r.(?) p.(Glu301Lys) Unknown - VUS g.97157258C>T - GDF6(NM_001001557.2):c.901G>A (p.(Glu301Lys)) - GDF6_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.936G>C r.(?) p.(Ser312=) Unknown - likely benign g.97157223C>G g.96144995C>G GDF6(NM_001001557.3):c.936G>C (p.S312=) - GDF6_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.980C>A r.(?) p.(Pro327His) Unknown - likely benign g.97157179G>T - GDF6(NM_001001557.2):c.980C>A (p.(Pro327His)) - GDF6_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1008G>A r.(?) p.(Thr336=) Unknown - benign g.97157151C>T g.96144923C>T GDF6(NM_001001557.4):c.1008G>A (p.T336=) - GDF6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1022G>A r.(?) p.(Arg341His) Unknown ACMG VUS g.97157137C>T g.96144909C>T GDF6:NM_001001557 c.G1022A, p.R341H - GDF6_000034 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-282 PubMed: Rodriguez-Munoz 2020 family fRPN-125, proband F - Spain - - - - - 1 LOVD
-?/. - c.1039G>A r.(?) p.(Gly347Ser) Unknown - likely benign g.97157120C>T - GDF6(NM_001001557.2):c.1039G>A (p.(Gly347Ser)) - GDF6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1170G>A r.(?) p.(Pro390=) Unknown - likely benign g.97156989C>T - GDF6(NM_001001557.3):c.1170G>A (p.P390=) - GDF6_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1268C>T r.(?) p.(Thr423Ile) Unknown - likely benign g.97156891G>A g.96144663G>A - - GDF6_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1271A>G r.(?) p.(Lys424Arg) Unknown - likely pathogenic g.97156888T>C g.96144660T>C - - GDF6_000028 - PubMed: Huang 2015 - - Germline - - - - - DNA SEQ-NG - gene panel glaucoma G479 PubMed: Huang 2015 family F - China - - - - - 1 LOVD
+?/. - c.1279C>T r.(?) p.(Pro427Ser) Unknown - likely pathogenic g.97156880G>A - GDF6(NM_001001557.2):c.1279C>T (p.(Pro427Ser)) - GDF6_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1287C>A r.(?) p.(Ser429Arg) Unknown - pathogenic g.97156872G>T g.96144644G>T GDF6(NM_001001557.3):c.1287C>A (p.S429R) - GDF6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1288A>G r.(?) p.(Ile430Val) Unknown - likely pathogenic g.97156871T>C g.96144643T>C - - GDF6_000027 - PubMed: Huang 2015 - - Germline - - - - - DNA SEQ-NG - gene panel glaucoma G539 PubMed: Huang 2015 family F - China - - - - - 1 LOVD
-?/. - c.1304C>T r.(?) p.(Ala435Val) Unknown - likely benign g.97156855G>A g.96144627G>A GDF6(NM_001001557.4):c.1304C>T (p.A435V, p.(Ala435Val)) - GDF6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1304C>T r.(?) p.(Ala435Val) Unknown ACMG VUS g.97156855G>A g.96144627G>A GDF6:NM_001001557 c.C1304T, p.A435V - GDF6_000002 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-320 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
-?/. - c.1304C>T r.(?) p.(Ala435Val) Unknown - likely benign g.97156855G>A - GDF6(NM_001001557.4):c.1304C>T (p.A435V, p.(Ala435Val)) - GDF6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1322A>G r.(?) p.(Tyr441Cys) Unknown - VUS g.97156837T>C g.96144609T>C GDF6(NM_001001557.2):c.1322A>G (p.(Tyr441Cys)), GDF6(NM_001001557.4):c.1322A>G (p.Y441C) - GDF6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1322A>G r.(?) p.(Tyr441Cys) Unknown - VUS g.97156837T>C - GDF6(NM_001001557.2):c.1322A>G (p.(Tyr441Cys)), GDF6(NM_001001557.4):c.1322A>G (p.Y441C) - GDF6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*315_*318dup r.(=) p.(=) Unknown - VUS g.97156516_97156519dup - GDF6(NM_001001557.4):c.*315_*318dup - GDF6_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*317_*318del r.(=) p.(=) Unknown - VUS g.97156518_97156519del - GDF6(NM_001001557.4):c.*317_*318del - GDF6_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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