Full data view for gene OPHN1

Information The variants shown are described using the NM_002547.2 transcript reference sequence.

119 entries on 2 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.-5+1G>A r.spl? p.? Unknown - VUS g.67653009C>T g.68433167C>T OPHN1(NM_002547.2):c.-5+1G>A - OPHN1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.(154+1::155-1) r.0 p.0 Unknown - pathogenic g.(67518939_67652708)_qterdelins[NC_000012.11:(67700000_71500000)_qter] - - t(X;12)(q11;q15) OPHN1_000000 t(X;12) balanced translocation PubMed: Bienvenu 1997, PubMed: Billuart 1998, Journal: Billuart 1998 - - Germline/De novo (untested) - - - 0 - DNA, RNA FISH, MIC, RT-PCR - - MRX;IDX 09582072-Pat PubMed: Billuart 1998, Journal: Billuart 1998 female patient F - France - - 0 - - 1 Johan den Dunnen
+?/. - c.4G>C r.(?) p.(Gly2Arg) Maternal (confirmed) - likely pathogenic g.67652859C>G g.68433017C>G NM_002547.2:c.4G>C; p.Gly2Arg - OPHN1_000100 - PubMed: Nair 2018 - rs1200813419 Unknown ? - - 0 - DNA SEQ-NG-I - whole exome sequencing mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60) ? PubMed: Nair 2018 - ? - Lebanon - - 0 - - 1 LOVD
-?/. - c.12C>G r.(?) p.(Pro4=) Unknown - likely benign g.67652851G>C - OPHN1(NM_002547.2):c.12C>G (p.P4=) - OPHN1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.19G>A r.(?) p.(Glu7Lys) Unknown - VUS g.67652844C>T - OPHN1(NM_002547.2):c.19G>A (p.E7K) - OPHN1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.21G>A r.(?) p.(Glu7=) Unknown - likely benign g.67652842C>T - OPHN1(NM_002547.2):c.21G>A (p.E7=) - OPHN1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.37C>G r.(?) p.(Leu13Val) Unknown - VUS g.67652826G>C g.68432984G>C - - OPHN1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.101A>G r.(?) p.(Lys34Arg) Unknown - VUS g.67652762T>C - - - OPHN1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.115G>A r.(?) p.(Val39Ile) Parent #1 - VUS g.67652748C>T g.68432906C>T - - OPHN1_000001 recurrent, found 12 times PubMed: Tarpey 2009 - - Germline ? 12/208 cases - 0 - DNA SEQ - - MRX;IDX 19377126-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 12 Lucy Raymond
-/. - c.115G>A r.(?) p.(Val39Ile) Parent #1 - benign g.67652748C>T g.68432906C>T - - OPHN1_000001 49 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41303733 Germline - 49/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 49 Mohammed Faruq
-/. - c.115G>A r.(?) p.(Val39Ile) Unknown - benign g.67652748C>T g.68432906C>T - - OPHN1_000001 33 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41303733 Germline - 33/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 33 Mohammed Faruq
?/. - c.116_127del r.(?) p.(Val39_Asp42del) Maternal (confirmed) ACMG VUS g.67652736_67652747del g.68432894_68432905del - - OPHN1_000086 - PubMed: Nuovo 2021 - - Germline yes - - 0 - DNA SEQ-NG blood - mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60) FamB PubMed: Nuovo 2021 3-generation family, 2 affected males, 3 unaffected heterozygous carrier females M yes - - - 0 - - 2 Sara Nuovo
-?/. - c.133G>A r.(?) p.(Ala45Thr) Unknown - likely benign g.67652730C>T g.68432888C>T OPHN1(NM_002547.2):c.133G>A (p.A45T), OPHN1(NM_002547.3):c.133G>A (p.A45T) - OPHN1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.133G>A r.(?) p.(Ala45Thr) Unknown - likely benign g.67652730C>T g.68432888C>T OPHN1(NM_002547.2):c.133G>A (p.A45T), OPHN1(NM_002547.3):c.133G>A (p.A45T) - OPHN1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.154+69A>C r.(=) p.(=) Unknown - benign g.67652640T>G g.68432798T>G OPHN1(NM_002547.3):c.154+69A>C - OPHN1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.154+196T>C r.(=) p.(=) Maternal (inferred) - VUS g.67652513A>G g.68432671A>G - - OPHN1_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.154+196T>C r.(=) p.(=) Maternal (inferred) - VUS g.67652513A>G g.68432671A>G - - OPHN1_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.155-5T>C r.spl? p.? Unknown - VUS g.67518943A>G g.68299101A>G OPHN1(NM_002547.2):c.155-5T>C - OPHN1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.184C>T r.(?) p.(Gln62*) Unknown - pathogenic g.67518909G>A g.68299067G>A C>T ex3 (Q62X) - OPHN1_000013 - PubMed: Philip 2003, Journal: Philip 2003, OMIM:var0002 - - Unknown - - - 0 - DNA SEQ - - mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60) - PubMed: Philip 2003, Journal: Philip 2003 2-generation family, 1 affected M no France - - 0 - - 1 Johan den Dunnen
?/. - c.204G>C r.(?) p.(Gln68His) Unknown - VUS g.67518889C>G g.68299047C>G - - OPHN1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.204G>T r.(?) p.(Gln68His) Unknown - VUS g.67518889C>A g.68299047C>A OPHN1(NM_002547.2):c.204G>T (p.Q68H) - OPHN1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.237T>C r.(?) p.(Asp79=) Unknown - likely benign g.67518856A>G g.68299014A>G OPHN1(NM_002547.2):c.237T>C (p.D79=) - OPHN1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.251-2A>G r.spl? p.? Maternal (confirmed) - pathogenic g.67502961T>C g.68283119T>C OPHN1 splice acceptor - OPHN1_000065 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamT10 PubMed: Hu 2016 family, 2 affected, 6 unaffected heterozygous carrier females M - - - - 0 - - 2 Johan den Dunnen
./. - c.403G>T r.(?) p.(Glu135*) Maternal (inferred) - pathogenic g.67454412C>A g.68234570C>A OPHN1 E135* - OPHN1_000064 - PubMed: Hu 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamAU49 PubMed: Hu 2016 family, 1 affected, 3 unaffected heterozygous carrier females M - - - - 0 - - 1 Johan den Dunnen
?/? 6 c.434T>C r.(?) p.(Leu145Pro) Parent #1 - VUS g.67454381A>G g.68234539A>G - - OPHN1_000004 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377129-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. - c.487-359_1276+332dup r.? p.? Maternal (confirmed) ACMG pathogenic (maternal) g.67412429_67434173dup g.68192587_68214331dup - - OPHN1_000102 - - - - Germline yes - - 0 - DNA PCRq, RT-PCR, SEQ, SEQ-NG blood clinical pontocerebellar hypoplasia sequencing panel epilepsy, X-linked, with variable learning disabilities and behavior disorders CMS2401 - - M no (United States) white 0 0 - - 1 Dr. Laxmi Kirola
+?/. - c.487-358_1276+333dup r.? p.? Maternal (confirmed) other pathogenic g.67412429_67434173dup g.68192587_68214331dup - - OPHN1_000102 - - SUB10705428 - Germline yes - - 0 - DNA arrayCGH, PCR, RT-PCR, RT-PCRq, SEQ-NG, SEQ-NG-I blood The clinical pontocerebellar hypoplasia sequencing panel ? - - - M no (United States) white 0 0 - - 1 Dr. Laxmi Kirola
+?/. - c.525_526insA r.(?) p.(Glu176ArgfsTer5) Unknown - likely pathogenic g.67433775_67433776insT g.68213933_68213934insT - - OPHN1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 7 c.549dup r.(?) p.(Gln184Serfs*23) Unknown - likely pathogenic g.67433752dup g.68213910dup - - OPHN1_000023 - - - - De novo - - - 0 - DNA SEQ-NG - - mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60) - - - - - - - - 0 - - 1 Talia Schwartz
-?/. - c.579G>A r.(?) p.(Lys193=) Unknown - likely benign g.67433722C>T g.68213880C>T OPHN1(NM_002547.3):c.579G>A (p.K193=) - OPHN1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 7 c.590T>A r.(?) p.(Val197Glu) Unknown - likely pathogenic g.67433711A>T g.68213869A>T - - OPHN1_000024 - - - - De novo - - - 0 - DNA SEQ-NG - - mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60) - - - - - - - - 0 - - 1 Talia Schwartz
?/. - c.595C>G r.(?) p.(Pro199Ala) Unknown - VUS g.67433706G>C - OPHN1(NM_002547.2):c.595C>G (p.P199A) - OPHN1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.598-245G>A r.(=) p.(=) Maternal (inferred) - VUS g.67432299C>T g.68212457C>T - - OPHN1_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+?/. - c.638T>C r.(?) p.(Leu213Pro) Parent #1 ACMG likely pathogenic g.67432014A>G g.68212172A>G - - OPHN1_000098 ACMG PM1, PM2, PP2, PP3 PubMed: Anazi 2017 - - Germline - - - 0 - DNA SEQ-NG - WES ID 10DG0165 PubMed: Anazi 2017 simplex case M yes Saudi Arabia - - 0 - - 1 Johan den Dunnen
+/. - c.702+2T>C r.spl? p.? Unknown - pathogenic g.67431948A>G g.68212106A>G - - OPHN1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.702+11A>C r.(=) p.(=) Unknown - likely benign g.67431939T>G g.68212097T>G OPHN1(NM_002547.3):c.702+11A>C - OPHN1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.702+136T>C r.(=) p.(=) Maternal (inferred) - VUS g.67431814A>G g.68211972A>G - - OPHN1_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.702+136T>C r.(=) p.(=) Maternal (inferred) - VUS g.67431814A>G g.68211972A>G - - OPHN1_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.705A>C r.(?) p.(Thr235=) Unknown - likely benign g.67430122T>G g.68210280T>G OPHN1(NM_002547.2):c.705A>C (p.T235=) - OPHN1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.745_752dup r.745_752dup p.Lys251Asnfs*6 Maternal (confirmed) - pathogenic g.67430080_67430087dup g.68210238_68210245dup 1385insAAGAACTT (AAGAATTC) - OPHN1_000012 normal RNA levels; random X-inactivation in carrier females PubMed: Philip 2003, Journal: Philip 2003, OMIM:var0002 - - Germline yes - - 0 - DNA SEQ - - MRD20 - PubMed: Philip 2003, Journal: Philip 2003 3-generation family, 4 affected males, 2 mildly affected heterozygous carrier females M no France - - 0 - - 6 Johan den Dunnen
+?/. 9 c.746T>C r.(?) p.(Leu249Pro) Parent #1 ACMG likely pathogenic g.67430081A>G g.68210239A>G - - OPHN1_000059 - PubMed: Tumienė 2018 - - De novo - - - 0 - DNA SEQ-NG - WES ? 29286531-Pat15 PubMed: Tumienė 2018 - - - (Slovenia) - - 0 - - 1 Johan den Dunnen
-?/. - c.832+16G>A r.(=) p.(=) Unknown - likely benign g.67429979C>T g.68210137C>T OPHN1(NM_002547.3):c.832+16G>A - OPHN1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.832+112A>G r.(=) p.(=) Unknown - benign g.67429883T>C g.68210041T>C OPHN1(NM_002547.3):c.832+112A>G - OPHN1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.832+159_832+160del r.(=) p.(=) Unknown - benign g.67429846_67429847del g.68210004_68210005del OPHN1(NM_002547.3):c.832+159_832+160delAA - OPHN1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.832+160_832+161del r.(=) p.(=) Unknown - VUS g.67429834_67429835del g.68209992_68209993del - - OPHN1_000020 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.832+162del r.(=) p.(=) Unknown - VUS g.67429834del g.68209992del - - OPHN1_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.832+162del r.(=) p.(=) Unknown - VUS g.67429834del g.68209992del - - OPHN1_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.832+538A>G r.(=) p.(=) Maternal (inferred) - VUS g.67429457T>C g.68209615T>C - - OPHN1_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.832+538A>G r.(=) p.(=) Maternal (inferred) - VUS g.67429457T>C g.68209615T>C - - OPHN1_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.853G>A r.(?) p.(Val285Met) Unknown - VUS g.67426495C>T - OPHN1(NM_002547.2):c.853G>A (p.V285M) - OPHN1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.855G>A r.(?) p.(Val285=) Unknown - VUS g.67426493C>T g.68206651C>T OPHN1(NM_002547.2):c.855G>A (p.V285=) - OPHN1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.885C>G r.(?) p.(Thr295=) Unknown - likely benign g.67426463G>C g.68206621G>C OPHN1(NM_002547.2):c.885C>G (p.T295=) - OPHN1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.902C>T r.(?) p.(Thr301Met) Unknown - likely benign g.67426446G>A g.68206604G>A OPHN1(NM_002547.2):c.902C>T (p.T301M, p.(Thr301Met)), OPHN1(NM_002547.3):c.902C>T (p.T301M) - OPHN1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.902C>T r.(?) p.(Thr301Met) Unknown - likely benign g.67426446G>A g.68206604G>A OPHN1(NM_002547.2):c.902C>T (p.T301M, p.(Thr301Met)), OPHN1(NM_002547.3):c.902C>T (p.T301M) - OPHN1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.902C>T r.(?) p.(Thr301Met) Unknown - likely benign g.67426446G>A g.68206604G>A OPHN1(NM_002547.2):c.902C>T (p.T301M, p.(Thr301Met)), OPHN1(NM_002547.3):c.902C>T (p.T301M) - OPHN1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.902C>T r.(?) p.(Thr301Met) Unknown - likely benign g.67426446G>A g.68206604G>A OPHN1(NM_002547.2):c.902C>T (p.T301M, p.(Thr301Met)), OPHN1(NM_002547.3):c.902C>T (p.T301M) - OPHN1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.903G>A r.(?) p.(Thr301=) Unknown - likely benign g.67426445C>T g.68206603C>T OPHN1(NM_002547.2):c.903G>A (p.T301=) - OPHN1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1026-15T>A r.(=) p.(=) Unknown - likely benign g.67417121A>T g.68197279A>T OPHN1(NM_002547.3):c.1026-15T>A - OPHN1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1026-10T>C r.(=) p.(=) Unknown - likely benign g.67417116A>G g.68197274A>G OPHN1(NM_002547.2):c.1026-10T>C - OPHN1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1120A>G r.(?) p.(Ile374Val) Unknown - VUS g.67414325T>C g.68194483T>C OPHN1(NM_002547.2):c.1120A>G (p.(Ile374Val)) - OPHN1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1134A>C r.(?) p.(Gln378His) Unknown - VUS g.67414311T>G g.68194469T>G OPHN1(NM_002547.2):c.1134A>C (p.Q378H) - OPHN1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1138+1C>T r.spl p.? Unknown - likely pathogenic g.67414306G>A g.68194464G>A - - OPHN1_000091 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5411200 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - 1 Johan den Dunnen
-?/. - c.1139-17dup r.(=) p.(=) Unknown - likely benign g.67413814dup - OPHN1(NM_002547.3):c.1139-17dupT - OPHN1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1183A>G r.(?) p.(Asn395Asp) Unknown - VUS g.67413750T>C - OPHN1(NM_002547.2):c.1183A>G (p.N395D) - OPHN1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1184A>G r.(?) p.(Asn395Ser) Unknown - VUS g.67413749T>C g.68193907T>C OPHN1(NM_002547.2):c.1184A>G (p.N395S, p.(Asn395Ser)), OPHN1(NM_002547.3):c.1184A>G (p.N395S) - OPHN1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1184A>G r.(?) p.(Asn395Ser) Unknown - VUS g.67413749T>C g.68193907T>C OPHN1(NM_002547.2):c.1184A>G (p.N395S, p.(Asn395Ser)), OPHN1(NM_002547.3):c.1184A>G (p.N395S) - OPHN1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1184A>G r.(?) p.(Asn395Ser) Unknown - likely benign g.67413749T>C g.68193907T>C OPHN1(NM_002547.2):c.1184A>G (p.N395S, p.(Asn395Ser)), OPHN1(NM_002547.3):c.1184A>G (p.N395S) - OPHN1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 14i c.1202-71C>T r.(?) p.(=) Maternal (inferred) - VUS g.67412906G>A g.68193064G>A - - OPHN1_000009 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 14i c.1202-71C>T r.(?) p.(=) Maternal (inferred) - VUS g.67412906G>A g.68193064G>A - - OPHN1_000009 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.1202-5A>G r.spl? p.? Unknown - likely benign g.67412840T>C g.68192998T>C OPHN1(NM_002547.2):c.1202-5A>G (p.?) - OPHN1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1226G>A r.(?) p.(Arg409His) Maternal (confirmed) - likely pathogenic (recessive) g.67412811C>T g.68192969C>T - - OPHN1_000105 ACMG PM1, PM2, PM5, PP3 PubMed: Schuermans 2022 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES trio ? Pat22 PubMed: Schuermans 2022 analysis 329 adult patients suffering from undiagnosed rare disease M - Belgium - - 0 - - 1 Johan den Dunnen
+?/. - c.1262T>C r.(?) p.(Leu421Pro) Unknown - likely pathogenic g.67412775A>G g.68192933A>G - - OPHN1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1265del r.(?) p.(Asn422Metfs*28) Both (homozygous) - pathogenic g.67412773del g.68192931del 1265delA - OPHN1_000026 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - M - (Germany) - - 0 - - 1 IMGAG
?/. - c.1270T>G r.(?) p.(Phe424Val) Unknown - VUS g.67412767A>C g.68192925A>C OPHN1(NM_002547.2):c.1270T>G (p.F424V) - OPHN1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1270T>G r.(?) p.(Phe424Val) Unknown - VUS g.67412767A>C g.68192925A>C OPHN1(NM_002547.2):c.1270T>G (p.F424V) - OPHN1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1277_1834del r.(?) p.(Pro427_Asp612del) Maternal (inferred) - pathogenic g.67292996_67339176del g.68073154_68119334del OPHN1 D612* - OPHN1_000060 - PubMed: Hu 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamMRX26/D43 PubMed: Hu 2016 family, 1 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - 1 Johan den Dunnen
?/. - c.1286G>A r.(?) p.(Cys429Tyr) Unknown - VUS g.67339165C>T - - - OPHN1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1410_1420+1delinsA r.spl p.? Both (homozygous) - pathogenic g.67333022_67333033delinsT g.68113180_68113191delinsT - - OPHN1_000025 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - M - (Germany) - - 0 - - 1 IMGAG
-/. - c.1421-133C>G r.(=) p.(=) Unknown - benign g.67331934G>C g.68112092G>C OPHN1(NM_002547.3):c.1421-133C>G - OPHN1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1421-131C>G r.(=) p.(=) Unknown - benign g.67331932G>C g.68112090G>C OPHN1(NM_002547.3):c.1421-131C>G - OPHN1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1461C>T r.(?) p.(Ser487=) Unknown - likely benign g.67331761G>A - OPHN1(NM_002547.2):c.1461C>T (p.S487=) - OPHN1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.1489C>T r.(?) p.(Arg497*) Maternal (confirmed) - pathogenic g.67331733G>A g.68111891G>A - - OPHN1_000005 - PubMed: Tzschach 2015 - - Germline ? - - 0 - DNA SEQ - - MRX;IDX Fam11 PubMed: Tzschach 2015 2-generation family, 2 affected brothers, unaffected heterozygous carrier mother M - ? (unknown) ? - 0 - - 2 Andreas Tzschach
+?/. - c.1489C>T r.(?) p.(Arg497*) Unknown - likely pathogenic g.67331733G>A g.68111891G>A - - OPHN1_000005 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5411352 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - 1 Johan den Dunnen
-?/. - c.1497G>A r.(?) p.(Met499Ile) Unknown - likely benign g.67331725C>T g.68111883C>T - - OPHN1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1508_1511del r.(?) p.(Leu503Glnfs*16) Maternal (confirmed) - pathogenic g.67331711_67331714del g.68111869_68111872del OPHN1 L503Qfs*16 - OPHN1_000063 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamT144 PubMed: Hu 2016 family, 2 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - 2 Johan den Dunnen
./. - c.1527-1G>A r.spl? p.? Maternal (inferred) - likely pathogenic g.67316872C>T g.68097030C>T OPHN1 splice acceptor - OPHN1_000062 - PubMed: Hu 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamAU90 PubMed: Hu 2016 family, 1 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - 1 Johan den Dunnen
+/. 19 c.1579del r.(?) p.(Ile527Serfs*6) Maternal (confirmed) - pathogenic g.67316820del g.68096978del 1578del - OPHN1_000010 mRNA hardly detectable (NMD); variant not in 100 control chromosomes PubMed: Billuart 1998, Journal: Billuart 1998, OMIM:var0001 - - Germline yes - - 0 - DNA, RNA DGGE, RT-PCR, SEQ - - mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60) - PubMed: Billuart 1998, Journal: Billuart 1998 5-generation family, 4 affected males, 7 unaffected heterozygous carrier females M no France - - 0 - - 4 Johan den Dunnen
./. - c.1585G>C r.(?) p.(Gly529Arg) Maternal (confirmed) - likely pathogenic g.67316813C>G g.68096971C>G OPHN1 G529R - OPHN1_000061 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamAU14 PubMed: Hu 2016 family, 4 affected, 3 unaffected heterozygous carrier females M - - - - 0 - - 4 Johan den Dunnen
?/. 19 c.1682G>A r.(?) p.(Gly561Asp) Unknown - VUS g.67316716C>T g.68096874C>T - - OPHN1_000099 - PubMed: Ganapathy 2019 - rs751031568 Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? R-0518 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
-?/. - c.1699C>A r.(?) p.(Pro567Thr) Unknown - likely benign g.67293129G>T g.68073287G>T OPHN1(NM_002547.2):c.1699C>A (p.(Pro567Thr)) - OPHN1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1722G>A r.(?) p.(Pro574=) Unknown - likely benign g.67293106C>T g.68073264C>T OPHN1(NM_002547.2):c.1722G>A (p.P574=) - OPHN1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1856C>T r.(?) p.(Pro619Leu) Unknown - VUS g.67283998G>A g.68064156G>A - - OPHN1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1857G>A r.(?) p.(Pro619=) Unknown - likely benign g.67283997C>T g.68064155C>T OPHN1(NM_002547.2):c.1857G>A (p.P619=) - OPHN1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 21 c.1955C>T r.(?) p.(Ser652Phe) Parent #1 - VUS g.67283899G>A g.68064057G>A - - OPHN1_000002 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377127-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.1985T>C r.(?) p.(Leu662Ser) Unknown - likely benign g.67283869A>G g.68064027A>G OPHN1(NM_002547.2):c.1985T>C (p.(Leu662Ser)) - OPHN1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2029C>A r.(?) p.(Leu677Met) Unknown - likely benign g.67283825G>T g.68063983G>T OPHN1(NM_002547.2):c.2029C>A (p.L677M, p.(Leu677Met)), OPHN1(NM_002547.3):c.2029C>A (p.L677M) - OPHN1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2029C>A r.(?) p.(Leu677Met) Unknown - likely benign g.67283825G>T g.68063983G>T OPHN1(NM_002547.2):c.2029C>A (p.L677M, p.(Leu677Met)), OPHN1(NM_002547.3):c.2029C>A (p.L677M) - OPHN1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2029C>A r.(?) p.(Leu677Met) Unknown - likely benign g.67283825G>T g.68063983G>T OPHN1(NM_002547.2):c.2029C>A (p.L677M, p.(Leu677Met)), OPHN1(NM_002547.3):c.2029C>A (p.L677M) - OPHN1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 21 c.2035G>A r.(?) p.(Asp679Asn) Unknown - likely pathogenic g.67283819C>T g.68063977C>T - - OPHN1_000022 - - - - Germline - - - 0 - DNA SEQ-NG - - mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60) - - - - - - - - 0 - - 1 Talia Schwartz
-?/. - c.2056C>T r.(?) p.(Pro686Ser) Unknown - likely benign g.67283798G>A g.68063956G>A OPHN1(NM_002547.2):c.2056C>T (p.P686S), OPHN1(NM_002547.3):c.2056C>T (p.P686S) - OPHN1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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