Full data view for gene INVS

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_014425.3 transcript reference sequence.

80 entries on 1 page. Showing entries 1 - 80.
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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.-155C>T r.(=) p.(=) Parent #1 - VUS g.102861568C>T g.100099286C>T - - INVS_000023 102 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs62577237 Germline - 102/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 102 Mohammed Faruq
-?/. - c.67G>A r.(?) p.(Val23Ile) Unknown - likely benign g.102866870G>A g.100104588G>A INVS(NM_014425.3):c.67G>A (p.(Val23Ile)), INVS(NM_014425.4):c.67G>A (p.V23I), INVS(NM_014425.5):c.67G>A (p.V23I) - INVS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.67G>A r.(?) p.(Val23Ile) Unknown - likely benign g.102866870G>A g.100104588G>A INVS(NM_014425.3):c.67G>A (p.(Val23Ile)), INVS(NM_014425.4):c.67G>A (p.V23I), INVS(NM_014425.5):c.67G>A (p.V23I) - INVS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.67G>A r.(?) p.(Val23Ile) Unknown - likely benign g.102866870G>A - INVS(NM_014425.3):c.67G>A (p.(Val23Ile)), INVS(NM_014425.4):c.67G>A (p.V23I), INVS(NM_014425.5):c.67G>A (p.V23I) - INVS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.114T>C r.(?) p.(Ser38=) Unknown - likely benign g.102888672T>C - INVS(NM_014425.5):c.114T>C (p.S38=) - TEX10_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.118C>G r.(?) p.(Leu40Val) Unknown - VUS g.102888676C>G g.100126394C>G INVS(NM_014425.4):c.118C>G (p.L40V) - INVS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.273+46C>T r.(=) p.(=) Unknown - benign g.102888877C>T g.100126595C>T INVS(NM_014425.5):c.273+46C>T - INVS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.273+46C>T r.(=) p.(=) Parent #1 - likely benign g.102888877C>T g.100126595C>T - - INVS_000006 74 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs76975466 Germline - 74/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 74 Mohammed Faruq
-?/. - c.273+46C>T r.(=) p.(=) Both (homozygous) - likely benign g.102888877C>T g.100126595C>T - - INVS_000006 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs76975466 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-/. - c.273+110A>T r.(=) p.(=) Unknown - benign g.102888941A>T g.100126659A>T INVS(NM_014425.5):c.273+110A>T - INVS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.274-15_274-14del r.(=) p.(=) Unknown - benign g.102988329_102988330del g.100226047_100226048del INVS(NM_014425.4):c.274-15_274-14delTT - INVS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.274G>T r.(?) p.(Gly92Ter) Unknown - likely pathogenic g.102988344G>T - INVS(NM_014425.4):c.274G>T (p.G92*) - TEX10_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.284G>A r.(?) p.(Arg95His) Unknown - VUS g.102988354G>A g.100226072G>A INVS(NM_014425.4):c.284G>A (p.R95H) - INVS_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.364A>C r.(?) p.(Thr122Pro) Unknown - VUS g.102988434A>C - c.[364A>C];[=] - INVS_000033 normal 2nd chromosome PubMed: Redin-2012 - - Germline - - - 0 - DNA arrayCNV, SEQ blood - retinal disease - PubMed: Redin-2012 - - - - - - 0 - - 1 LOVD
?/. - c.367C>T r.(?) p.(Arg123Trp) Unknown - VUS g.102988437C>T g.100226155C>T INVS(NM_001318381.1):c.79C>T (p.R27W), INVS(NM_014425.5):c.367C>T (p.R123W) - TEX10_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.367C>T r.(?) p.(Arg123Trp) Unknown - VUS g.102988437C>T - INVS(NM_001318381.1):c.79C>T (p.R27W), INVS(NM_014425.5):c.367C>T (p.R123W) - TEX10_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.478A>G r.(?) p.(Asn160Asp) Unknown - VUS g.102991972A>G g.100229690A>G INVS(NM_001318381.1):c.190A>G (p.N64D) - TEX10_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.615G>A r.(?) p.(Leu205=) Unknown - VUS g.102992109G>A - INVS(NM_001318381.1):c.327G>A (p.L109=) - TEX10_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.665G>A r.(?) p.(Arg222Gln) Unknown - VUS g.103002391G>A - INVS(NM_001318381.1):c.377G>A (p.R126Q) - TEX10_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.672del r.(?) p.(Leu225Phefs*10) Unknown - pathogenic g.103002398del - INVS(NM_001318381.1):c.384delT (p.L129Ffs*10) - TEX10_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.725C>T r.(?) p.(Ser242Leu) Parent #1 - benign g.103002451C>T g.100240169C>T - - TEX10_000002 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2491097 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-/. - c.740A>G r.(?) p.(Asn247Ser) Unknown - benign g.103002466A>G g.100240184A>G INVS(NM_014425.4):c.740A>G (p.N247S) - TEX10_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.833A>G r.(?) p.(Asn278Ser) Unknown - VUS g.103004888A>G g.100242606A>G INVS(NM_014425.4):c.833A>G (p.N278S) - INVS_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.913G>A r.(?) p.(Val305Ile) Parent #1 - likely benign g.103008904G>A g.100246622G>A - - INVS_000024 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs116438342 Germline - 1/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-?/. - c.1011C>T r.(?) p.(Val337=) Unknown - likely benign g.103009002C>T g.100246720C>T INVS(NM_001318381.1):c.723C>T (p.V241=) - TEX10_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1117del r.(?) p.(Val373Ter) Unknown - likely pathogenic g.103014603del - INVS(NM_001318381.1):c.829delG (p.V277*) - TEX10_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1235-5T>C r.spl? p.? Unknown - benign g.103015184T>C g.100252902T>C INVS(NM_014425.4):c.1235-5T>C, INVS(NM_014425.5):c.1235-5T>C - INVS_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1235-5T>C r.spl? p.? Unknown - benign g.103015184T>C g.100252902T>C INVS(NM_014425.4):c.1235-5T>C, INVS(NM_014425.5):c.1235-5T>C - INVS_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1284T>C r.(?) p.(His428=) Unknown - benign g.103015238T>C g.100252956T>C INVS(NM_014425.4):c.1284T>C (p.H428=) - TEX10_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1393T>C r.(?) p.(Tyr465His) Unknown - VUS g.103015347T>C g.100253065T>C INVS(NM_014425.4):c.1393T>C (p.Y465H) - TEX10_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1571+30_1571+32del r.(=) p.(=) Unknown - benign g.103027240_103027242del g.100264958_100264960del INVS(NM_014425.4):c.1571+30_1571+32delTTT - INVS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1571+31_1571+32del r.(=) p.(=) Unknown - benign g.103027241_103027242del g.100264959_100264960del INVS(NM_014425.4):c.1571+31_1571+32delTT - TEX10_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1571+32del r.(=) p.(=) Unknown - benign g.103027242del g.100264960del INVS(NM_014425.4):c.1571+32delT - INVS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1572-22del r.(=) p.(=) Unknown - benign g.103035124del g.100272842del INVS(NM_014425.5):c.1572-22delA - INVS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1607G>A r.(?) p.(Arg536His) Unknown - VUS g.103035181G>A - INVS(NM_001318381.1):c.1319G>A (p.R440H) - TEX10_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1726C>T r.(?) p.(Arg576*) Unknown - pathogenic g.103035300C>T - - - TEX10_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1784+8T>C r.(=) p.(=) Unknown - likely benign g.103035366T>C g.100273084T>C INVS(NM_014425.4):c.1784+8T>C - INVS_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1807C>T r.(?) p.(Arg603Ter) Unknown - pathogenic g.103046624C>T g.100284342C>T - - INVS_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1837C>T r.(?) p.(Arg613Trp) Unknown - VUS g.103046654C>T g.100284372C>T INVS(NM_014425.4):c.1837C>T (p.R613W) - INVS_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1871C>T r.(?) p.(Pro624Leu) Unknown - VUS g.103046688C>T - INVS(NM_001318381.1):c.1583C>T (p.P528L) - TEX10_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1943A>G r.(?) p.(Asn648Ser) Unknown - likely benign g.103046760A>G g.100284478A>G INVS(NM_001318381.1):c.1655A>G (p.N552S) - TEX10_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1948G>C r.(?) p.(Ala650Pro) Unknown - VUS g.103046765G>C g.100284483G>C - - INVS_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - ? - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1948G>C r.(?) p.(Ala650Pro) Unknown - VUS g.103046765G>C g.100284483G>C - - INVS_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. 13 c.1948G>C r.(?) p.(Ala650Pro) Parent #1 - benign g.103046765G>C g.100284483G>C - - INVS_000001 predicted benign PubMed: Neveling 2012 - - Germline no - - 0 - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - 0 - - 1 Kornelia Neveling
-?/. - c.1948G>C r.(?) p.(Ala650Pro) Unknown - likely benign g.103046765G>C g.100284483G>C INVS(NM_001318381.1):c.1660G>C (p.A554P), INVS(NM_014425.3):c.1948G>C (p.(Ala650Pro)), INVS(NM_014425.5):c.1948G>C (p.A650P) - INVS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1948G>C r.(?) p.(Ala650Pro) Unknown - benign g.103046765G>C - INVS(NM_001318381.1):c.1660G>C (p.A554P), INVS(NM_014425.3):c.1948G>C (p.(Ala650Pro)), INVS(NM_014425.5):c.1948G>C (p.A650P) - INVS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1948G>C r.(?) p.(Ala650Pro) Unknown - VUS g.103046765G>C - INVS(NM_001318381.1):c.1660G>C (p.A554P), INVS(NM_014425.3):c.1948G>C (p.(Ala650Pro)), INVS(NM_014425.5):c.1948G>C (p.A650P) - INVS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1980A>G r.(?) p.(Gly660=) Unknown - likely benign g.103046797A>G g.100284515A>G INVS(NM_014425.4):c.1980A>G (p.G660=) - INVS_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2068G>T r.(?) p.(Glu690*) Unknown - pathogenic g.103046885G>T - INVS(NM_001318381.1):c.1780G>T (p.E594*) - TEX10_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2069-18_2069-16del r.(=) p.(=) Unknown - likely benign g.103054590_103054592del g.100292308_100292310del INVS(NM_014425.4):c.2069-18_2069-16delTTT - INVS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2310C>T r.(?) p.(His770=) Unknown - benign g.103054849C>T g.100292567C>T INVS(NM_001318381.1):c.2022C>T (p.H674=), INVS(NM_014425.4):c.2310C>T (p.H770=) - INVS_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2310C>T r.(?) p.(His770=) Unknown - likely benign g.103054849C>T g.100292567C>T INVS(NM_001318381.1):c.2022C>T (p.H674=), INVS(NM_014425.4):c.2310C>T (p.H770=) - INVS_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2394C>G r.(?) p.(Leu798=) Unknown - likely benign g.103054933C>G g.100292651C>G INVS(NM_001318381.1):c.2106C>G (p.L702=) - TEX10_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2402G>A r.(?) p.(Gly801Glu) Unknown - benign g.103054941G>A g.100292659G>A INVS(NM_014425.4):c.2402G>A (p.G801E) - INVS_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2402G>A r.(?) p.(Gly801Glu) Parent #1 - likely benign g.103054941G>A g.100292659G>A - - INVS_000022 19 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs76868679 Germline - 19/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 19 Mohammed Faruq
-/. - c.2412T>C r.(?) p.(Ser804=) Unknown - benign g.103054951T>C g.100292669T>C INVS(NM_014425.4):c.2412T>C (p.S804=), INVS(NM_014425.5):c.2412T>C (p.S804=) - TEX10_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2412T>C r.(?) p.(Ser804=) Unknown - benign g.103054951T>C g.100292669T>C INVS(NM_014425.4):c.2412T>C (p.S804=), INVS(NM_014425.5):c.2412T>C (p.S804=) - TEX10_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2542T>G r.(?) p.(Leu848Val) Unknown - likely benign g.103055081T>G g.100292799T>G INVS(NM_001318381.1):c.2254T>G (p.L752V) - TEX10_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2643T>C r.(?) p.(Pro881=) Unknown - benign g.103055182T>C g.100292900T>C INVS(NM_014425.4):c.2643T>C (p.P881=) - INVS_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2652C>A r.(?) p.(Leu884=) Unknown - likely benign g.103055191C>A g.100292909C>A INVS(NM_014425.4):c.2652C>A (p.L884=) - INVS_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2686G>C r.(?) p.(Val896Leu) Unknown - likely benign g.103055225G>C - INVS(NM_001318381.1):c.2398G>C (p.V800L) - TEX10_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2695C>T r.(?) p.(Arg899*) Unknown - pathogenic g.103055234C>T - - - TEX10_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 14 c.2716G>T r.(?) p.(Glu906*) Both (homozygous) - unclassified g.103055255G>T - INVS:c.2716G>T - INVS_000032 - PubMed: Chaki 2011 - - Germline - - - 0 - DNA PCR, SEQ blood - retinal disease - PubMed: Chaki 2011 - - - - - - 0 - - 1 LOVD
?/. 14 c.2716G>T r.(?) p.(Glu906*) Both (homozygous) - unclassified g.103055255G>T - INVS:c.2716G>T - INVS_000032 - PubMed: Chaki 2011 - - Germline - - - 0 - DNA PCR, SEQ blood - retinal disease - PubMed: Chaki 2011 - - - - - - 0 - - 1 LOVD
-/. - c.2775C>T r.(?) p.(Arg925=) Unknown - benign g.103055314C>T g.100293032C>T INVS(NM_014425.4):c.2775C>T (p.R925=) - INVS_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2803C>T r.(?) p.(His935Tyr) Unknown - benign g.103059215C>T g.100296933C>T INVS(NM_001318381.1):c.2515C>T (p.H839Y), INVS(NM_014425.3):c.2803C>T (p.(His935Tyr)), INVS(NM_014425.4):c.2803C>T (p.H935Y), INVS(NM_014425.5):c.2... - TEX10_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2803C>T r.(?) p.(His935Tyr) Unknown - VUS g.103059215C>T g.100296933C>T INVS(NM_001318381.1):c.2515C>T (p.H839Y), INVS(NM_014425.3):c.2803C>T (p.(His935Tyr)), INVS(NM_014425.4):c.2803C>T (p.H935Y), INVS(NM_014425.5):c.2... - TEX10_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2803C>T r.(?) p.(His935Tyr) Unknown - likely benign g.103059215C>T g.100296933C>T INVS(NM_001318381.1):c.2515C>T (p.H839Y), INVS(NM_014425.3):c.2803C>T (p.(His935Tyr)), INVS(NM_014425.4):c.2803C>T (p.H935Y), INVS(NM_014425.5):c.2... - TEX10_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2803C>T r.(?) p.(His935Tyr) Unknown - benign g.103059215C>T g.100296933C>T INVS(NM_001318381.1):c.2515C>T (p.H839Y), INVS(NM_014425.3):c.2803C>T (p.(His935Tyr)), INVS(NM_014425.4):c.2803C>T (p.H935Y), INVS(NM_014425.5):c.2... - TEX10_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2866G>A r.(?) p.(Glu956Lys) Unknown - likely benign g.103059278G>A g.100296996G>A INVS(NM_014425.4):c.2866G>A (p.E956K) - INVS_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2901G>A r.(?) p.(Lys967=) Unknown - benign g.103059313G>A g.100297031G>A INVS(NM_014425.4):c.2901G>A (p.K967=) - INVS_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3017-5T>G r.spl? p.? Unknown - benign g.103060213T>G g.100297931T>G INVS(NM_001318381.1):c.2729-5T>G, INVS(NM_014425.4):c.3017-5T>G - TEX10_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3017-5T>G r.spl? p.? Unknown - likely benign g.103060213T>G g.100297931T>G INVS(NM_001318381.1):c.2729-5T>G, INVS(NM_014425.4):c.3017-5T>G - TEX10_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3027C>T r.(?) p.(His1009=) Unknown - likely benign g.103060228C>T - INVS(NM_001318381.1):c.2739C>T (p.H913=) - TEX10_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3028G>A r.(?) p.(Glu1010Lys) Unknown - likely benign g.103060229G>A g.100297947G>A INVS(NM_001318381.1):c.2740G>A (p.E914K) - TEX10_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3053G>C r.(?) p.(Arg1018Thr) Unknown - VUS g.103060254G>C g.100297972G>C INVS(NM_014425.3):c.3053G>C (p.(Arg1018Thr)) - INVS_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3091+94T>G r.(=) p.(=) Unknown - benign g.103060386T>G g.100298104T>G INVS(NM_014425.5):c.3091+94T>G - INVS_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 17 c.3135_3137dup r.(?) p.(Ser1046dup) Parent #1 - VUS g.103062894_103062896dup g.100300612_100300614dup 3138insTTC - INVS_000002 - PubMed: Neveling 2012 - - Germline no - - 0 - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - 0 - - 1 Kornelia Neveling
?/. 17 c.3176_3177insA r.(?) p.(Asn1061Lysfs*20) Both (homozygous) - VUS g.103062934_103062935insA - c.[3176_3177insA] - INVS_000034 - PubMed: Redin-2012 - - Germline - - - 0 - DNA arrayCNV, SEQ blood - retinal disease - PubMed: Redin-2012 - - - - Melanesian - 0 - - 1 LOVD
?/. - c.3182dup r.(?) p.(Asn1061LysfsTer20) Unknown - VUS g.103062940dup g.100300658dup INVS(NM_014425.4):c.3182dupA (p.N1061Kfs*20) - TEX10_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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