Full data view for gene HMCN1

This database is one of the "LOVD Eye disease gene databases".
Information The variants shown are described using the NM_031935.2 transcript reference sequence.

213 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

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.114G>T r.(?) p.(Gly38=) Unknown - likely benign g.185704025G>T g.185734893G>T HMCN1(NM_031935.2):c.114G>T (p.G38=), HMCN1(NM_031935.3):c.114G>T (p.G38=) - HMCN1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.114G>T r.(?) p.(Gly38=) Unknown - likely benign g.185704025G>T - HMCN1(NM_031935.2):c.114G>T (p.G38=), HMCN1(NM_031935.3):c.114G>T (p.G38=) - HMCN1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.437G>A r.(?) p.(Arg146Gln) Unknown - likely benign g.185833699G>A - HMCN1(NM_031935.3):c.437G>A (p.R146Q) - HMCN1_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.601G>A r.(?) p.(Asp201Asn) Unknown - likely pathogenic g.185834975G>A g.185865843G>A HMCN1 c.601G>A, p.Asp201Asn - HMCN1_000106 heterozygous PubMed: Liu 2020 - rs759144564 Germline/De novo (untested) ? 1/64 - - - DNA SEQ-NG-I blood 326 selected genes from whole exome sequencing retinal disease G1526 PubMed: Liu 2020 - ? - China - - - - - 1 LOVD
-?/. - c.602A>G r.(?) p.(Asp201Gly) Unknown - likely benign g.185834976A>G - HMCN1(NM_031935.3):c.602A>G (p.D201G) - HMCN1_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.669T>A r.(?) p.(Leu223=) Unknown - likely benign g.185878516T>A - HMCN1(NM_031935.2):c.669T>A (p.L223=) - HMCN1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.785A>G r.(?) p.(Asn262Ser) Unknown - likely benign g.185878632A>G - HMCN1(NM_031935.3):c.785A>G (p.N262S) - HMCN1_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.861G>A r.(?) p.(Val287=) Unknown - likely benign g.185880873G>A g.185911741G>A HMCN1(NM_031935.2):c.861G>A (p.V287=) - HMCN1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.901-15A>G r.(=) p.(=) Unknown - likely benign g.185891496A>G - HMCN1(NM_031935.3):c.901-15A>G - HMCN1_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1015G>A r.(?) p.(Val339Met) Unknown - VUS g.185891625G>A g.185922493G>A HMCN1(NM_031935.2):c.1015G>A (p.V339M) - HMCN1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1239C>A r.(?) p.(Tyr413Ter) Unknown - VUS g.185892739C>A g.185923607C>A - - HMCN1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1266C>G r.(?) p.(Ser422=) Unknown - benign g.185892766C>G - HMCN1(NM_031935.3):c.1266C>G (p.S422=) - HMCN1_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1338G>C r.(?) p.(Pro446=) Unknown - likely benign g.185894231G>C - HMCN1(NM_031935.2):c.1338G>C (p.P446=) - HMCN1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1535C>T r.(?) p.(Thr512Ile) Unknown - VUS g.185897782C>T g.185928650C>T HMCN1(NM_031935.2):c.1535C>T (p.T512I) - HMCN1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1535C>T r.(?) p.(Thr512Ile) Unknown - VUS g.185897782C>T g.185928650C>T - - HMCN1_000008 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case30421 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - 1 LOVD
-?/. 10 c.1535C>T r.(?) p.(Thr512Ile) Unknown - likely benign g.185897782C>T g.185928650C>T HMCN1 c.1535C>T, p.Thr512Ile - HMCN1_000008 heterozygous PubMed: Fisher 2007 - - Germline yes 5/1662 AMD cases, 5/1160 controls - - - DNA SEQ, PE blood matrix-assisted laser desorption/ionization time of flight (MALDI-TOF) mass spectrometry method retinal disease ? PubMed: Fisher 2007 case-control study (1662 AMD cases, 1160 controls) ? - - - - - - - 1 LOVD
-?/. - c.1637C>T r.(?) p.(Ala546Val) Unknown - likely benign g.185902765C>T g.185933633C>T HMCN1(NM_031935.2):c.1637C>T (p.A546V) - HMCN1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2119G>T r.(?) p.(Val707Phe) Unknown - VUS g.185934954G>T - HMCN1(NM_031935.2):c.2119G>T (p.(Val707Phe)) - HMCN1_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2157C>T r.(?) p.(Thr719=) Unknown - likely benign g.185934992C>T - HMCN1(NM_031935.3):c.2157C>T (p.T719=) - HMCN1_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2164G>A r.(?) p.(Glu722Lys) Unknown - likely benign g.185934999G>A - HMCN1(NM_031935.3):c.2164G>A (p.(Glu722Lys)) - HMCN1_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2212+8T>G r.(=) p.(=) Unknown - likely benign g.185935055T>G g.185965923T>G HMCN1(NM_031935.2):c.2212+8T>G - HMCN1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2372-3C>T r.spl? p.? Unknown - likely benign g.185946916C>T g.185977784C>T HMCN1(NM_031935.2):c.2372-3C>T - HMCN1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 16 c.2420G>A r.(?) p.(Gly807Asp) Unknown - VUS g.185946967G>A g.185977835G>A G2420A - HMCN1_000099 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG-I - - retinal disease - PubMed: Katagiri 2014 index patient F no Japan Japanese - - - - 1 Rob W.J. Collin
?/. - c.2437C>T r.(?) p.(Pro813Ser) Unknown - VUS g.185946984C>T g.185977852C>T HMCN1(NM_031935.2):c.2437C>T (p.P813S) - HMCN1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2559T>C r.(?) p.(=) Unknown - likely benign g.185947106T>C - HMCN1(NM_031935.3):c.2559T>C (p.F853=) - HMCN1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2767C>T r.(?) p.(Arg923Trp) Unknown - VUS g.185951498C>T g.185982366C>T HMCN1(NM_031935.2):c.2767C>T (p.R923W) - HMCN1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3166A>G r.(?) p.(Thr1056Ala) Parent #1 - likely benign g.185958737A>G g.185989605A>G - - HMCN1_000081 236 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs7539719 Germline - 236/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 236 Mohammed Faruq
-?/. - c.3166A>G r.(?) p.(Thr1056Ala) Both (homozygous) - likely benign g.185958737A>G g.185989605A>G - - HMCN1_000081 8 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs7539719 Germline - 8/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 8 Mohammed Faruq
-?/. - c.3236G>A r.(?) p.(Arg1079Gln) Unknown - likely benign g.185959434G>A g.185990302G>A HMCN1(NM_031935.2):c.3236G>A (p.(Arg1079Gln)) - HMCN1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3262G>A r.(?) p.(Glu1088Lys) Unknown - VUS g.185959460G>A - HMCN1(NM_031935.3):c.3262G>A (p.(Glu1088Lys)) - HMCN1_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3300A>G r.(?) p.(Pro1100=) Unknown - likely benign g.185959498A>G g.185990366A>G HMCN1(NM_031935.2):c.3300A>G (p.P1100=) - HMCN1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3307G>A r.(?) p.(Val1103Met) Unknown - likely benign g.185959505G>A - HMCN1(NM_031935.3):c.3307G>A (p.(Val1103Met)) - HMCN1_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3310A>G r.(?) p.(Lys1104Glu) Unknown - VUS g.185959508A>G - HMCN1(NM_031935.2):c.3310A>G (p.K1104E) - HMCN1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3377+14dup r.(=) p.(=) Unknown - likely benign g.185959589dup - HMCN1(NM_031935.3):c.3377+14dupG - HMCN1_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 23 c.3498T>G r.(?) p.(Asn1166Lys) Unknown - VUS g.185962434T>G g.185993302T>G T3498G - HMCN1_000100 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP#005 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
?/. - c.3553G>T r.(?) p.(Gly1185Cys) Unknown - VUS g.185963994G>T g.185994862G>T HMCN1(NM_031935.2):c.3553G>T (p.(Gly1185Cys)) - HMCN1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 24 c.3695C>T r.(?) p.(Thr1232Met) Unknown - likely benign g.185964136C>T g.185995004C>T HMCN1 c.3695C>T, p.Thr1232Met - HMCN1_000125 heterozygous PubMed: Fisher 2007 - - Germline yes 25/1662 AMD cases, 22/1160 controls - - - DNA SEQ, PE blood matrix-assisted laser desorption/ionization time of flight (MALDI-TOF) mass spectrometry method retinal disease ? PubMed: Fisher 2007 case-control study (1662 AMD cases, 1160 controls) ? - - - - - - - 1 LOVD
-?/. - c.3695C>T r.(?) p.(Thr1232Met) Unknown - likely benign g.185964136C>T - HMCN1(NM_031935.3):c.3695C>T (p.T1232M) - HMCN1_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4009A>T r.(?) p.(Ile1337Phe) Unknown - VUS g.185969311A>T g.186000179A>T HMCN1(NM_031935.2):c.4009A>T (p.I1337F) - HMCN1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4112C>T r.(?) p.(Ser1371Leu) Unknown - VUS g.185970472C>T g.186001340C>T HMCN1(NM_031935.2):c.4112C>T (p.S1371L) - HMCN1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4163del r.(?) p.(Pro1388Hisfs*14) Parent #1 - pathogenic (dominant) g.185970523del - 4162delC - HMCN1_000094 - PubMed: Pras 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - - retinal disease Fam2 PubMed: Pras 2015 3-generation family, 6 affected (3F, 3M), 2 presymptomatic F;M - Tunisia - - - - - 6 Johan den Dunnen
-?/. - c.4269A>G r.(?) p.(Pro1423=) Unknown - likely benign g.185970794A>G g.186001662A>G HMCN1(NM_031935.2):c.4269A>G (p.P1423=) - HMCN1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4337T>C r.(?) p.(Ile1446Thr) Unknown - VUS g.185970862T>C g.186001730T>C HMCN1(NM_031935.2):c.4337T>C (p.I1446T) - HMCN1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4373A>G r.(?) p.(Asn1458Ser) Unknown - likely benign g.185972874A>G g.186003742A>G HMCN1(NM_031935.2):c.4373A>G (p.N1458S) - HMCN1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4468G>A r.(?) p.(Asp1490Asn) Unknown - VUS g.185972969G>A g.186003837G>A HMCN1(NM_031935.2):c.4468G>A (p.D1490N) - HMCN1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4515C>G r.(?) p.(Asp1505Glu) Unknown - benign g.185976299C>G g.186007167C>G HMCN1(NM_031935.2):c.4515C>G (p.D1505E), HMCN1(NM_031935.3):c.4515C>G (p.D1505E) - HMCN1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4515C>G r.(?) p.(Asp1505Glu) Unknown - likely benign g.185976299C>G - HMCN1(NM_031935.2):c.4515C>G (p.D1505E), HMCN1(NM_031935.3):c.4515C>G (p.D1505E) - HMCN1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4547G>A r.(?) p.(Arg1516Gln) Unknown - VUS g.185976331G>A g.186007199G>A - - HMCN1_000095 0/1266 control chromosomes PubMed: Xu 2015 - - Germline - 2/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP305 PubMed: Xu 2014 patient M - China - - - - - 1 LOVD
?/. - c.4547G>A r.(?) p.(Arg1516Gln) Unknown - VUS g.185976331G>A g.186007199G>A - - HMCN1_000095 0/1266 control chromosomes PubMed: Xu 2015 - - Germline - 2/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP376 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
?/. - c.4547G>A r.(?) p.(Arg1516Gln) Both (homozygous) - VUS g.185976331G>A g.186007199G>A - - HMCN1_000095 - PubMed: Liu 2015 - - Germline no - - - - DNA SEQ-NG - 316-gene panel retinal disease RH2 PubMed: Liu 2015 - - - China - - - - - 1 LOVD
-?/. - c.4586A>G r.(?) p.(Asn1529Ser) Unknown - likely benign g.185976370A>G g.186007238A>G HMCN1(NM_031935.2):c.4586A>G (p.(Asn1529Ser)) - HMCN1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4586A>G r.(?) p.(Asn1529Ser) Parent #1 - likely benign g.185976370A>G g.186007238A>G - - HMCN1_000022 16 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41317471 Germline - 16/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 16 Mohammed Faruq
-?/. 30 c.4586A>G r.(?) p.(Asn1529Ser) Unknown - likely benign g.185976370A>G g.186007238A>G HMCN1 c.4586A>G, p.Asn1529Ser - HMCN1_000022 heterozygous PubMed: Fisher 2007 - - Germline yes 27/1662 AMD cases, 14/1160 controls - - - DNA SEQ, PE blood matrix-assisted laser desorption/ionization time of flight (MALDI-TOF) mass spectrometry method retinal disease ? PubMed: Fisher 2007 case-control study (1662 AMD cases, 1160 controls) ? - - - - - - - 1 LOVD
?/. - c.4667A>G r.(?) p.(Asp1556Gly) Unknown - VUS g.185984327A>G - HMCN1(NM_031935.2):c.4667A>G (p.D1556G) - HMCN1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4782A>G r.(?) p.(=) Unknown - likely benign g.185984442A>G - HMCN1(NM_031935.3):c.4782A>G (p.A1594=) - HMCN1_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4910-14A>G r.(=) p.(=) Unknown - likely benign g.185985076A>G - HMCN1(NM_031935.3):c.4910-14A>G - HMCN1_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4910-14_4910-13del r.(=) p.(=) Unknown - likely benign g.185985076_185985077del - HMCN1(NM_031935.3):c.4910-14_4910-13delAT - HMCN1_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4998T>C r.(?) p.(Ala1666=) Unknown - likely benign g.185985178T>C g.186016046T>C HMCN1(NM_031935.2):c.4998T>C (p.A1666=), HMCN1(NM_031935.3):c.4998T>C (p.A1666=) - HMCN1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4998T>C r.(?) p.(Ala1666=) Unknown - likely benign g.185985178T>C - HMCN1(NM_031935.2):c.4998T>C (p.A1666=), HMCN1(NM_031935.3):c.4998T>C (p.A1666=) - HMCN1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5014A>G r.(?) p.(Ile1672Val) Unknown - likely benign g.185985194A>G - HMCN1(NM_031935.3):c.5014A>G (p.I1672V) - HMCN1_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5070A>T r.(?) p.(Ile1690=) Unknown - likely benign g.185985250A>T g.186016118A>T HMCN1(NM_031935.2):c.5070A>T (p.I1690=), HMCN1(NM_031935.3):c.5070A>T (p.I1690=) - HMCN1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5070A>T r.(?) p.(Ile1690=) Unknown - likely benign g.185985250A>T g.186016118A>T HMCN1(NM_031935.2):c.5070A>T (p.I1690=), HMCN1(NM_031935.3):c.5070A>T (p.I1690=) - HMCN1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5395A>G r.(?) p.(Asn1799Asp) Unknown - likely benign g.185987409A>G - HMCN1(NM_031935.3):c.5395A>G (p.N1799D) - HMCN1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5474C>T r.(?) p.(Pro1825Leu) Unknown ACMG VUS g.185988676C>T g.186019544C>T - - HMCN1_000150 ACMG PM2 PubMed: Weisschuh 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS ? MDS-297 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+?/. 35 c.5482A>G r.(?) p.(Ile1828Val) Unknown - likely pathogenic g.185988684A>G - c.5482A>G - HMCN1_000103 - PubMed: Song-2011 - - Unknown - - - - - DNA arraySEQ, PCR blood - retinal disease - PubMed: Song-2011 - F - - - - - - - 1 LOVD
-?/. - c.5851+10del r.(=) p.(=) Unknown - likely benign g.186007177del g.186038045del HMCN1(NM_031935.2):c.5851+10delC, HMCN1(NM_031935.3):c.5851+10delC - HMCN1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5851+10del r.(=) p.(=) Unknown - benign g.186007177del g.186038045del HMCN1(NM_031935.2):c.5851+10delC, HMCN1(NM_031935.3):c.5851+10delC - HMCN1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5881C>T r.(?) p.(Leu1961Phe) Unknown - VUS g.186007990C>T - HMCN1(NM_031935.3):c.5881C>T (p.(Leu1961Phe)) - HMCN1_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6029-11G>T r.(=) p.(=) Unknown - likely benign g.186008849G>T - HMCN1(NM_031935.3):c.6029-11G>T - HMCN1_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6029-4T>C r.spl? p.? Unknown - likely benign g.186008856T>C g.186039724T>C HMCN1(NM_031935.2):c.6029-4T>C (p.?), HMCN1(NM_031935.3):c.6029-4T>C - HMCN1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6029-4T>C r.spl? p.? Unknown - likely benign g.186008856T>C g.186039724T>C HMCN1(NM_031935.2):c.6029-4T>C (p.?), HMCN1(NM_031935.3):c.6029-4T>C - HMCN1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6029-4T>C r.spl? p.? Unknown - likely benign g.186008856T>C - HMCN1(NM_031935.2):c.6029-4T>C (p.?), HMCN1(NM_031935.3):c.6029-4T>C - HMCN1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6089G>A r.(?) p.(Arg2030Lys) Unknown - VUS g.186008920G>A g.186039788G>A - - HMCN1_000096 0/1266 control chromosomes PubMed: Xu 2015 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP274 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
-?/. - c.6150T>C r.(?) p.(Ser2050=) Unknown - likely benign g.186008981T>C - HMCN1(NM_031935.3):c.6150T>C (p.S2050=) - HMCN1_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6181-17G>A r.(=) p.(=) Unknown - likely benign g.186010128G>A - HMCN1(NM_031935.3):c.6181-17G>A - HMCN1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6287T>A r.(?) p.(Ile2096Asn) Unknown - likely benign g.186010251T>A - HMCN1(NM_031935.3):c.6287T>A (p.I2096N) - HMCN1_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6305-16C>T r.(=) p.(=) Unknown - likely benign g.186014804C>T - HMCN1(NM_031935.3):c.6305-16C>T - HMCN1_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6511C>T r.(?) p.(Arg2171Cys) Unknown - VUS g.186017905C>T - HMCN1(NM_031935.2):c.6511C>T (p.R2171C) - HMCN1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6701-18A>G r.(=) p.(=) Unknown - likely benign g.186022939A>G - HMCN1(NM_031935.3):c.6701-18A>G - HMCN1_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6708A>G r.(?) p.(Pro2236=) Unknown - likely benign g.186022964A>G g.186053832A>G HMCN1(NM_031935.2):c.6708A>G (p.P2236=) - HMCN1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6812C>T r.(?) p.(Ala2271Val) Unknown - VUS g.186023068C>T g.186053936C>T HMCN1(NM_031935.2):c.6812C>T (p.A2271V) - HMCN1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6981G>A r.(?) p.(Met2327Ile) Parent #1 - likely benign g.186024643G>A g.186055511G>A - - HMCN1_000029 19 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs12067376 Germline - 19/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 19 Mohammed Faruq
-?/. 45 c.6981G>A r.(?) p.(Met2327Ile) Unknown - likely benign g.186024643G>A g.186055511G>A HMCN1 c.6984G>A, p.Met2328Ile - HMCN1_000029 error in annotation, annotation obsolete: nucleotide shifted by 3, amino acid by 1; heterozygous PubMed: Fisher 2007 - - Germline yes 36/1662 AMD cases, 17/1160 controls - - - DNA SEQ, PE blood matrix-assisted laser desorption/ionization time of flight (MALDI-TOF) mass spectrometry method retinal disease ? PubMed: Fisher 2007 case-control study (1662 AMD cases, 1160 controls) ? - - - - - - - 1 LOVD
?/. - c.7048C>A r.(?) p.(Leu2350Met) Parent #1 - VUS g.186024710C>A g.186055578C>A - - HMCN1_000082 14 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201628935 Germline - 14/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 14 Mohammed Faruq
?/. - c.7079G>A r.(?) p.(Arg2360His) Unknown - VUS g.186024741G>A g.186055609G>A HMCN1(NM_031935.2):c.7079G>A (p.R2360H) - HMCN1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7144+1G>A r.spl? p.? Unknown - VUS g.186024807G>A - HMCN1(NM_031935.3):c.7144+1G>A - HMCN1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7426+10T>G r.(=) p.(=) Unknown - likely benign g.186031106T>G - HMCN1(NM_031935.3):c.7426+10T>G - HMCN1_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 48 c.7477G>C r.(?) p.(Glu2493Gln) Unknown - likely benign g.186031696G>C g.186062564G>C HMCN1 c.7480G>C, p.Glu2494Gln - HMCN1_000126 error in annotation, annotation obsolete: nucleotide shifted by 3, amino acid by 1; heterozygous PubMed: Fisher 2007 - - Germline yes 3/1662 AMD cases, 0/1160 controls - - - DNA SEQ, PE blood matrix-assisted laser desorption/ionization time of flight (MALDI-TOF) mass spectrometry method retinal disease ? PubMed: Fisher 2007 case-control study (1662 AMD cases, 1160 controls) ? - - - - - - - 1 LOVD
-?/. - c.7494G>A r.(?) p.(Thr2498=) Unknown - likely benign g.186031713G>A g.186062581G>A HMCN1(NM_031935.2):c.7494G>A (p.T2498=) - HMCN1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7555C>G r.(?) p.(Pro2519Ala) Unknown - likely benign g.186034411C>G g.186065279C>G HMCN1(NM_031935.2):c.7555C>G (p.P2519A) - HMCN1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7652T>C r.(?) p.(Leu2551Ser) Unknown - VUS g.186034508T>C g.186065376T>C HMCN1(NM_031935.2):c.7652T>C (p.(Leu2551Ser)), HMCN1(NM_031935.3):c.7652T>C (p.L2551S) - HMCN1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7652T>C r.(?) p.(Leu2551Ser) Unknown - likely benign g.186034508T>C - HMCN1(NM_031935.2):c.7652T>C (p.(Leu2551Ser)), HMCN1(NM_031935.3):c.7652T>C (p.L2551S) - HMCN1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.7677G>C r.(?) p.(Lys2559Asn) Unknown - likely pathogenic g.186034533G>C g.186065401G>C 7677G>C - HMCN1_000093 - PubMed: Duvvari 2016 - rs139899015 Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease Pat8AB PubMed: Duvvari 2016 patient - - Netherlands white - - - - 1 LOVD
-?/. - c.7705+4G>A r.spl? p.? Unknown - likely benign g.186034565G>A - HMCN1(NM_031935.3):c.7705+4G>A - HMCN1_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7706-9C>T r.(=) p.(=) Unknown - likely benign g.186036957C>T - HMCN1(NM_031935.3):c.7706-9C>T - HMCN1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7818C>T r.(?) p.(=) Unknown - likely benign g.186037078C>T - HMCN1(NM_031935.3):c.7818C>T (p.T2606=) - HMCN1_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8028G>A r.(?) p.(Gly2676=) Unknown - likely benign g.186039778G>A - HMCN1(NM_031935.3):c.8028G>A (p.G2676=) - HMCN1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8094G>A r.(?) p.(=) Unknown - likely benign g.186039844G>A - HMCN1(NM_031935.3):c.8094G>A (p.A2698=) - HMCN1_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 53 c.8150C>T r.(?) p.(Ser2717Phe) Unknown - VUS g.186043883C>T g.186074751C>T C8150T - HMCN1_000101 - PubMed: Katagiri 2014 - rs201586866 Germline - - - - - DNA SEQ-NG - WES retinal disease RP#029 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
-?/. - c.8174C>T r.(?) p.(Ala2725Val) Unknown - likely benign g.186043907C>T - HMCN1(NM_031935.3):c.8174C>T (p.A2725V) - HMCN1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.