Unique variants in the INVS gene

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.

61 entries on 1 page. Showing entries 1 - 61.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. 1 - c.-155C>T r.(=) p.(=) - 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 - - - Mohammed Faruq
-?/. 3 - c.67G>A r.(?) p.(Val23Ile) - likely benign g.102866870G>A g.100104588G>A 1 more item - INVS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.114T>C r.(?) p.(Ser38=) - likely benign g.102888672T>C - INVS(NM_014425.5):c.114T>C (p.S38=) - TEX10_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.118C>G r.(?) p.(Leu40Val) - 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 - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.273+46C>T r.(=) p.(=) - benign, likely benign g.102888877C>T g.100126595C>T INVS(NM_014425.5):c.273+46C>T - INVS_000006 1 homozygous; Clinindb (India), 74 heterozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs76975466 CLASSIFICATION record, Germline - 1/2795 individuals, 74/2795 individuals - - - VKGL-NL_Utrecht, Mohammed Faruq
-/. 1 - c.273+110A>T r.(=) p.(=) - benign g.102888941A>T g.100126659A>T INVS(NM_014425.5):c.273+110A>T - INVS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.274-15_274-14del r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.274G>T r.(?) p.(Gly92Ter) - likely pathogenic g.102988344G>T - INVS(NM_014425.4):c.274G>T (p.G92*) - TEX10_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.284G>A r.(?) p.(Arg95His) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 4 c.364A>C r.(?) p.(Thr122Pro) - VUS g.102988434A>C - c.[364A>C];[=] - INVS_000033 normal 2nd chromosome PubMed: Redin-2012 - - Germline - - - - - LOVD
?/. 2 - c.367C>T r.(?) p.(Arg123Trp) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 - c.478A>G r.(?) p.(Asn160Asp) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.615G>A r.(?) p.(Leu205=) - VUS g.102992109G>A - INVS(NM_001318381.1):c.327G>A (p.L109=) - TEX10_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.665G>A r.(?) p.(Arg222Gln) - VUS g.103002391G>A - INVS(NM_001318381.1):c.377G>A (p.R126Q) - TEX10_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.672del r.(?) p.(Leu225Phefs*10) - pathogenic g.103002398del - INVS(NM_001318381.1):c.384delT (p.L129Ffs*10) - TEX10_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.725C>T r.(?) p.(Ser242Leu) - 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 - - - Mohammed Faruq
-/. 1 - c.740A>G r.(?) p.(Asn247Ser) - 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 - - - - - VKGL-NL_AMC
?/. 1 - c.833A>G r.(?) p.(Asn278Ser) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.913G>A r.(?) p.(Val305Ile) - 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 - - - Mohammed Faruq
-?/. 1 - c.1011C>T r.(?) p.(Val337=) - 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 - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1117del r.(?) p.(Val373Ter) - likely pathogenic g.103014603del - INVS(NM_001318381.1):c.829delG (p.V277*) - TEX10_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.1235-5T>C r.spl? p.? - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-/. 1 - c.1284T>C r.(?) p.(His428=) - 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 - - - - - VKGL-NL_AMC
?/. 1 - c.1393T>C r.(?) p.(Tyr465His) - 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 - - - - - VKGL-NL_AMC
-/. 1 - c.1571+30_1571+32del r.(=) p.(=) - 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 - - - - - VKGL-NL_AMC
-/. 1 - c.1571+31_1571+32del r.(=) p.(=) - 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 - - - - - VKGL-NL_AMC
-/. 1 - c.1571+32del r.(=) p.(=) - benign g.103027242del g.100264960del INVS(NM_014425.4):c.1571+32delT - INVS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1572-22del r.(=) p.(=) - benign g.103035124del g.100272842del INVS(NM_014425.5):c.1572-22delA - INVS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1607G>A r.(?) p.(Arg536His) - VUS g.103035181G>A - INVS(NM_001318381.1):c.1319G>A (p.R440H) - TEX10_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1726C>T r.(?) p.(Arg576*) - pathogenic g.103035300C>T - - - TEX10_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1784+8T>C r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1807C>T r.(?) p.(Arg603Ter) - pathogenic g.103046624C>T g.100284342C>T - - INVS_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1837C>T r.(?) p.(Arg613Trp) - 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 - - - - - VKGL-NL_AMC
?/. 1 - c.1871C>T r.(?) p.(Pro624Leu) - VUS g.103046688C>T - INVS(NM_001318381.1):c.1583C>T (p.P528L) - TEX10_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1943A>G r.(?) p.(Asn648Ser) - 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 - - - - - VKGL-NL_Rotterdam
-/., -?/., ?/. 6 13 c.1948G>C r.(?) p.(Ala650Pro) - benign, likely benign, VUS g.103046765G>C g.100284483G>C 1 more item - INVS_000001 predicted benign, VKGL data sharing initiative Nederland PubMed: Neveling 2012 - - CLASSIFICATION record, Germline no - - - - Gerard C.P. Schaafsma, Kornelia Neveling, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.1980A>G r.(?) p.(Gly660=) - 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 - - - - - VKGL-NL_Rotterdam
+/. 1 - c.2068G>T r.(?) p.(Glu690*) - pathogenic g.103046885G>T - INVS(NM_001318381.1):c.1780G>T (p.E594*) - TEX10_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2069-18_2069-16del r.(=) p.(=) - 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 - - - - - VKGL-NL_AMC
-/., -?/. 2 - c.2310C>T r.(?) p.(His770=) - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.2394C>G r.(?) p.(Leu798=) - 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 - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.2402G>A r.(?) p.(Gly801Glu) - benign, likely benign g.103054941G>A g.100292659G>A INVS(NM_014425.4):c.2402G>A (p.G801E) - INVS_000022 19 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs76868679 CLASSIFICATION record, Germline - 19/2795 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq
-/. 2 - c.2412T>C r.(?) p.(Ser804=) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.2542T>G r.(?) p.(Leu848Val) - 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 - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2643T>C r.(?) p.(Pro881=) - 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 - - - - - VKGL-NL_AMC
-?/. 1 - c.2652C>A r.(?) p.(Leu884=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2686G>C r.(?) p.(Val896Leu) - likely benign g.103055225G>C - INVS(NM_001318381.1):c.2398G>C (p.V800L) - TEX10_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.2695C>T r.(?) p.(Arg899*) - pathogenic g.103055234C>T - - - TEX10_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 14 c.2716G>T r.(?) p.(Glu906*) - unclassified g.103055255G>T - INVS:c.2716G>T - INVS_000032 - PubMed: Chaki 2011 - - Germline - - - - - LOVD
-/. 1 - c.2775C>T r.(?) p.(Arg925=) - 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 - - - - - VKGL-NL_AMC
-/., -?/., ?/. 4 - c.2803C>T r.(?) p.(His935Tyr) - benign, likely benign, VUS g.103059215C>T g.100296933C>T 1 more item - TEX10_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.2866G>A r.(?) p.(Glu956Lys) - 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 - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2901G>A r.(?) p.(Lys967=) - 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 - - - - - VKGL-NL_AMC
-/., -?/. 2 - c.3017-5T>G r.spl? p.? - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.3027C>T r.(?) p.(His1009=) - likely benign g.103060228C>T - INVS(NM_001318381.1):c.2739C>T (p.H913=) - TEX10_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.3028G>A r.(?) p.(Glu1010Lys) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3053G>C r.(?) p.(Arg1018Thr) - 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 - - - - - VKGL-NL_Leiden
-/. 1 - c.3091+94T>G r.(=) p.(=) - benign g.103060386T>G g.100298104T>G INVS(NM_014425.5):c.3091+94T>G - INVS_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 17 c.3135_3137dup r.(?) p.(Ser1046dup) - VUS g.103062894_103062896dup g.100300612_100300614dup 3138insTTC - INVS_000002 - PubMed: Neveling 2012 - - Germline no - - - - Kornelia Neveling
?/. 1 17 c.3176_3177insA r.(?) p.(Asn1061Lysfs*20) - VUS g.103062934_103062935insA - c.[3176_3177insA] - INVS_000034 - PubMed: Redin-2012 - - Germline - - - - - LOVD
?/. 1 - c.3182dup r.(?) p.(Asn1061LysfsTer20) - VUS g.103062940dup g.100300658dup INVS(NM_014425.4):c.3182dupA (p.N1061Kfs*20) - TEX10_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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