All variants in the GPR179 gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001004334.2 transcript reference sequence.

198 entries on 2 pages. Showing entries 1 - 100.
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Effect     

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     
-/. - c.51C>T r.(?) p.(Gly17=) - benign g.36499622G>A g.38343739G>A GPR179(NM_001004334.4):c.51C>T (p.G17=) - GPR179_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.142C>G r.(?) p.(Pro48Ala) - VUS g.36499531G>C - GPR179(NM_001004334.4):c.142C>G (p.P48A) - GPR179_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.146T>C r.(?) p.(Met49Thr) - likely benign g.36499527A>G g.38343644A>G GPR179(NM_001004334.3):c.146T>C (p.M49T) - GPR179_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.187del r.(?) p.(Leu63Serfs*12) - likely pathogenic (recessive) g.36499486del g.38343603del GPR179 c.187delC, p.Leu63Serfs*12 - GPR179_000147 heterozygous PubMed: Peachey 2012 - - Germline yes 0/210 healthy control chromosomes - - - LOVD
-?/. - c.257G>A r.(?) p.(Gly86Glu) - likely benign g.36499416C>T g.38343533C>T GPR179(NM_001004334.3):c.257G>A (p.G86E) - GPR179_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.349G>A r.(?) p.(Asp117Asn) - likely pathogenic g.36499324C>T g.38343441C>T - - GPR179_000114 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs776996552 Germline - 1/2795 individuals - - - Mohammed Faruq
+?/. - c.349G>A r.(?) p.(Asp117Asn) - likely pathogenic g.36499324C>T g.38343441C>T - - GPR179_000114 - PubMed: Patel 2016 - - Germline - - - - - LOVD
-?/. - c.349G>T r.(?) p.(Asp117Tyr) - likely benign g.36499324C>A g.38343441C>A GPR179(NM_001004334.4):c.349G>T (p.D117Y) - GPR179_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/? 1 c.376G>C r.(?) p.(Asp126His) - pathogenic g.36499297C>G g.38343414C>G - - GPR179_000001 submitted through SIB; ExPASy_067925 PubMed: Audo 2012 - - Unknown - - - - - SIB - Livia Famiglietti
-?/. - c.414C>T r.(?) p.(Ala138=) - likely benign g.36499259G>A - GPR179(NM_001004334.3):c.414C>T (p.A138=) - GPR179_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.508G>C r.(?) p.(Gly170Arg) - likely benign g.36499165C>G g.38343282C>G GPR179(NM_001004334.2):c.508G>C (p.(Gly170Arg)) - GPR179_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.585dup r.(?) p.(Ala196CysfsTer10) - pathogenic g.36499088dup g.38343205dup GPR179(NM_001004334.3):c.585dupT (p.A196Cfs*10) - GPR179_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.627C>T r.(?) p.(Leu209=) - likely benign g.36499046G>A g.38343163G>A GPR179(NM_001004334.3):c.627C>T (p.L209=), GPR179(NM_001004334.4):c.627C>T (p.L209=) - GPR179_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.627C>T r.(?) p.(Leu209=) - likely benign g.36499046G>A - GPR179(NM_001004334.3):c.627C>T (p.L209=), GPR179(NM_001004334.4):c.627C>T (p.L209=) - GPR179_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.628G>A r.(?) p.(Gly210Ser) - benign g.36499045C>T g.38343162C>T GPR179(NM_001004334.3):c.628G>A (p.G210S), GPR179(NM_001004334.4):c.628G>A (p.G210S) - GPR179_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.628G>A r.(?) p.(Gly210Ser) - VUS g.36499045C>T g.38343162C>T GPR179(NM_001004334.3):c.628G>A (p.G210S), GPR179(NM_001004334.4):c.628G>A (p.G210S) - GPR179_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.645G>A r.(?) p.(Pro215=) - benign g.36499028C>T g.38343145C>T GPR179(NM_001004334.4):c.645G>A (p.P215=) - GPR179_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.657A>T r.(?) p.(Gly219=) - likely benign g.36499016T>A g.38343133T>A GPR179(NM_001004334.3):c.657A>T (p.G219=), GPR179(NM_001004334.4):c.657A>T (p.G219=) - GPR179_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.657A>T r.(?) p.(Gly219=) - likely benign g.36499016T>A g.38343133T>A GPR179(NM_001004334.3):c.657A>T (p.G219=), GPR179(NM_001004334.4):c.657A>T (p.G219=) - GPR179_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/? 1 c.659A>G r.(?) p.(Tyr220Cys) - pathogenic g.36499014T>C g.38343131T>C - - GPR179_000004 submitted through SIB; ExPASy_067926 PubMed: Audo 2012 - - Unknown - - - - - SIB - Livia Famiglietti
+?/. - c.659A>G r.(?) p.(Tyr220Cys) - likely pathogenic g.36499014T>C - GPR179(NM_001004334.4):c.659A>G (p.Y220C) - GPR179_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 c.659A>G r.(?) p.(Tyr220Cys) - pathogenic g.36499014T>C - c.659A>G - GPR179_000004 - PubMed: Bijveld 2013 - - Unknown - - - - - LOVD
+?/. - c.659A>G r.(?) p.(Tyr220Cys) - likely pathogenic (recessive) g.36499014T>C g.38343131T>C GPR179 c.659A>G, p.Tyr220Cys - GPR179_000004 heterozygous PubMed: Peachey 2012 - - Unknown ? 0/210 healthy control chromosomes - - - LOVD
-?/. - c.671C>T r.(?) p.(Thr224Met) - likely benign g.36499002G>A g.38343119G>A GPR179(NM_001004334.4):c.671C>T (p.T224M) - GPR179_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.709C>T r.(?) p.(Gln237Ter) - VUS g.36498964G>A g.38343081G>A - - GPR179_000127 - PubMed: Wang 2015 - - Germline - - - - - LOVD
?/. - c.761A>G r.(?) p.(Tyr254Cys) - VUS g.36498912T>C g.38343029T>C GPR179(NM_001004334.3):c.761A>G (p.Y254C) - GPR179_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.795-4G>A r.spl? p.? - benign g.36495412C>T g.38339529C>T GPR179(NM_001004334.3):c.795-4G>A, GPR179(NM_001004334.4):c.795-4G>A - GPR179_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.795-4G>A r.spl? p.? - likely benign g.36495412C>T g.38339529C>T GPR179(NM_001004334.3):c.795-4G>A, GPR179(NM_001004334.4):c.795-4G>A - GPR179_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.814G>A r.(?) p.(Val272Ile) - benign g.36495389C>T g.38339506C>T GPR179(NM_001004334.4):c.814G>A (p.V272I) - GPR179_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.864G>A r.(?) p.(Trp288Ter) - likely pathogenic g.36495339C>T g.38339456C>T - - GPR179_000126 - PubMed: Patel 2016 - - Germline - - - - - LOVD
+?/. - c.870_871dup r.(?) p.(Asn291IlefsTer43) - likely pathogenic g.36495332_36495333dup g.38339449_38339450dup - - GPR179_000131 no genotype reported PubMed: Zeitz 2015 - - Germline - - - - - LOVD
+/. c.903+343G>A c.903+343G>A r.spl p.(?) ACMG pathogenic (recessive) g.72103821A>C g.71811481A>C GPR179; NM_001004334.3; c.903+343G>A; g.15:36494957C>T - GPR179_000001 homozygous PubMed: DiScipio 2020 - - Germline yes - - - - LOVD
?/. - c.910C>T r.(?) p.(Pro304Ser) - VUS g.36493597G>A g.38337714G>A GPR179(NM_001004334.3):c.910C>T (p.P304S) - GPR179_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.921T>A r.(?) p.(Ser307Arg) - likely benign g.36493586A>T g.38337703A>T GPR179(NM_001004334.3):c.921T>A (p.S307R) - GPR179_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.959G>A r.(?) p.(Arg320Gln) - likely benign g.36493548C>T g.38337665C>T GPR179(NM_001004334.3):c.959G>A (p.R320Q), GPR179(NM_001004334.4):c.959G>A (p.R320Q) - GPR179_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.959G>A r.(?) p.(Arg320Gln) - VUS g.36493548C>T g.38337665C>T GPR179(NM_001004334.3):c.959G>A (p.R320Q), GPR179(NM_001004334.4):c.959G>A (p.R320Q) - GPR179_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.973G>A r.(?) p.(Gly325Arg) - VUS g.36493534C>T g.38337651C>T GPR179(NM_001004334.3):c.973G>A (p.G325R), GPR179(NM_001004334.4):c.973G>A (p.G325R) - GPR179_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.973G>A r.(?) p.(Gly325Arg) - VUS g.36493534C>T - GPR179(NM_001004334.3):c.973G>A (p.G325R), GPR179(NM_001004334.4):c.973G>A (p.G325R) - GPR179_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.983C>T r.(?) p.(Pro328Leu) - likely benign g.36493524G>A g.38337641G>A GPR179(NM_001004334.4):c.983C>T (p.P328L) - GPR179_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.984del r.(?) p.(Ser329Leufs*4) - pathogenic (recessive) g.36493523del - 17:36493522AG>A ENST00000342292.4:c.984delC (Ser329LeufsTer4) - GPR179_000119 - PubMed: Carss 2017 - - Germline - - - - - LOVD
+?/. - c.984del r.(?) p.(Ser329Leufs*4) - likely pathogenic g.36493526del g.38337643del GPR179, variant 1: c.984del/p.S329Lfs*4 , variant 2: c.984del/p.S329Lfs*4 - GPR179_000119 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - LOVD
+/. - c.984del r.(?) p.(Ser329Leufs*4) - pathogenic g.36493526del g.38337643del GPR179 c.984delC, p.Ser329LeufsTer4 - GPR179_000119 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - LOVD
+?/. - c.984del r.(?) p.(Ser329Leufs*4) - likely pathogenic (recessive) g.36493526del g.38337643del GPR179 c.984delC, p.Ser329Leufs*4 - GPR179_000119 heterozygous PubMed: Peachey 2012 - - Germline yes 0/210 healthy control chromosomes - - - LOVD
+?/. - c.984del r.(?) p.(Ser329Leufs*4) - likely pathogenic (recessive) g.36493526del g.38337643del GPR179 c.984delC, p.Ser329Leufs*4 - GPR179_000119 heterozygous PubMed: Peachey 2012 - - Unknown ? 0/210 healthy control chromosomes - - - LOVD
+/. - c.984del r.(?) p.(Ser329Leufs*4) - pathogenic g.36493526del - GPR179(NM_001004334.2):c.984delC (p.(Ser329fs)), GPR179(NM_001004334.4):c.984delC (p.S329Lfs*4) - GPR179_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.984del r.(?) p.(Ser329LeufsTer4) ACMG pathogenic (recessive) g.36493526del g.38337643del - - GPR179_000119 ACMG PM2, PVS1, PP5, PS4 PubMed: Weisschuh 2024 31204 - Germline - - - - - Johan den Dunnen
+/. - c.984del r.(?) p.(Ser329LeufsTer4) ACMG pathogenic (recessive) g.36493526del g.38337643del - - GPR179_000119 ACMG PM2, PVS1, PP5, PS4; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline - - - - - Johan den Dunnen
+/. - c.984del r.(?) p.(Ser329LeufsTer4) ACMG pathogenic (recessive) g.36493526del g.38337643del - - GPR179_000119 ACMG PM2, PVS1, PP5, PS4 PubMed: Weisschuh 2024 - - Germline - - - - - Johan den Dunnen
+/. - c.984del r.(?) p.(Ser329Leufs*4) - pathogenic g.36493526del - GPR179(NM_001004334.2):c.984delC (p.(Ser329fs)), GPR179(NM_001004334.4):c.984delC (p.S329Lfs*4) - GPR179_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.989G>T r.(?) p.(Gly330Val) - likely benign g.36493518C>A g.38337635C>A GPR179(NM_001004334.3):c.989G>T (p.G330V) - GPR179_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.991+1G>A r.spl? p.? - likely pathogenic g.36493515C>T g.38337632C>T - - GPR179_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1030G>A r.(?) p.(Gly344Arg) - VUS g.36493058C>T g.38337175C>T GPR179(NM_001004334.3):c.1030G>A (p.G344R) - GPR179_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1030G>A r.(?) p.(Gly344Arg) - VUS g.36493058C>T - - - GPR179_000046 - PubMed: Shah 2018 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. - c.1033T>C r.(?) p.(Phe345Leu) - VUS g.36493055A>G g.38337172A>G GPR179(NM_001004334.4):c.1033T>C (p.F345L) - GPR179_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1133C>T r.(?) p.(Ala378Val) - likely benign g.36492955G>A g.38337072G>A GPR179(NM_001004334.3):c.1133C>T (p.A378V), GPR179(NM_001004334.4):c.1133C>T (p.A378V) - GPR179_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1133C>T r.(?) p.(Ala378Val) - likely benign g.36492955G>A g.38337072G>A GPR179(NM_001004334.3):c.1133C>T (p.A378V), GPR179(NM_001004334.4):c.1133C>T (p.A378V) - GPR179_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1140G>A r.(?) p.(Leu380=) - benign g.36492948C>T g.38337065C>T GPR179(NM_001004334.4):c.1140G>A (p.L380=) - GPR179_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1147G>A r.(?) p.(Ala383Thr) - VUS g.36492941C>T g.38337058C>T GPR179(NM_001004334.3):c.1147G>A (p.A383T) - GPR179_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 4 c.1210C>T r.(?) p.(Arg404Cys) - VUS g.36492878G>A g.38336995G>A C1210T - GPR179_000130 - PubMed: Katagiri 2014 - rs147753316 Germline - - - - - LOVD
?/. - c.1220G>A r.(?) p.(Arg407Gln) - VUS g.36492868C>T - GPR179(NM_001004334.3):c.1220G>A (p.R407Q) - GPR179_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1236G>C r.(?) p.(Trp412Cys) - VUS g.36492019C>G g.38336136C>G GPR179(NM_001004334.3):c.1236G>C (p.W412C), GPR179(NM_001004334.4):c.1236G>C (p.W412C) - GPR179_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1236G>C r.(?) p.(Trp412Cys) - VUS g.36492019C>G - GPR179(NM_001004334.3):c.1236G>C (p.W412C), GPR179(NM_001004334.4):c.1236G>C (p.W412C) - GPR179_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1296+3G>C r.spl? p.? - VUS g.36491956C>G - GPR179(NM_001004334.4):c.1296+3G>C - GPR179_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1321A>C r.(?) p.(Ser441Arg) - VUS g.36491559T>G - GPR179(NM_001004334.4):c.1321A>C (p.S441R) - GPR179_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.1349G>A r.(?) p.(Trp450Ter) - pathogenic g.36491531C>T g.38335648C>T GPR179(NM_001004334.3):c.1349G>A (p.W450*) - GPR179_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 6 c.1364G>A r.(?) p.(Gly455Asp) - pathogenic g.36491516C>T g.38335633C>T - - GPR179_000003 submitted through SIB; ExPASy_067927 PubMed: Audo 2012 - - Unknown - - - - - SIB - Livia Famiglietti
+?/. - c.1368del r.(?) p.(Phe456LeufsTer30) - likely pathogenic g.36491515del g.38335632del - - GPR179_000129 no genotype reported PubMed: Zeitz 2015 - - Germline - - - - - LOVD
+?/. 6 c.1368del r.(?) p.(Phe456Leufs*30) - likely pathogenic g.36491515del g.38335632del GPR179 Ex.6 c.1368del p.(Phe456Leufs*30), Ex.6 c.1368del p.(Phe456Leufs*30) - GPR179_000129 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - LOVD
-?/. - c.1406+4C>T r.spl? p.? - likely benign g.36491470G>A g.38335587G>A GPR179(NM_001004334.3):c.1406+4C>T - GPR179_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1430G>A r.(?) p.(Arg477Gln) - VUS g.36491131C>T g.38335248C>T GPR179(NM_001004334.4):c.1430G>A (p.R477Q) - GPR179_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1455G>A r.(?) p.(Leu485=) - likely benign g.36491106C>T g.38335223C>T GPR179(NM_001004334.3):c.1455G>A (p.L485=) - GPR179_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1472T>A r.(?) p.(Leu491Gln) - VUS g.36491089A>T g.38335206A>T GPR179(NM_001004334.4):c.1472T>A (p.L491Q) - GPR179_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1528G>A r.(?) p.(Val510Met) - VUS g.36491033C>T g.38335150C>T GPR179(NM_001004334.3):c.1528G>A (p.V510M) - GPR179_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1533C>T r.(?) p.(Gly511=) - likely benign g.36491028G>A g.38335145G>A GPR179(NM_001004334.3):c.1533C>T (p.G511=) - GPR179_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1693C>A r.(?) p.(Arg565=) - likely benign g.36490678G>T - GPR179(NM_001004334.3):c.1693C>A (p.R565=), GPR179(NM_001004334.4):c.1693C>A (p.R565=) - GPR179_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1693C>A r.(?) p.(Arg565=) - likely benign g.36490678G>T - GPR179(NM_001004334.3):c.1693C>A (p.R565=), GPR179(NM_001004334.4):c.1693C>A (p.R565=) - GPR179_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1749T>C r.(?) p.(Asn583=) - benign g.36490622A>G g.38334739A>G GPR179(NM_001004334.4):c.1749T>C (p.N583=) - GPR179_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/? 9 c.1807C>T r.(?) p.(His603Tyr) - pathogenic g.36489899G>A g.38334016G>A - - GPR179_000002 submitted through SIB; ExPASy_067928 PubMed: Audo 2012 - - Unknown - - - - - SIB - Livia Famiglietti
?/? 9 c.1811C>T r.(?) p.(Pro604Leu) - VUS g.36489895G>A g.38334012G>A - - GPR179_000005 - - - - Germline yes 2/222 - - - Soumittra Nagasamy
+?/. - c.1811C>T r.(?) p.(Pro604Leu) - likely pathogenic g.36489895G>A g.38334012G>A - - GPR179_000005 - PubMed: Malaichamy 2014 - - Germline - - - - - LOVD
+?/. - c.1818G>A r.(?) p.(Trp606Ter) - likely pathogenic g.36489888C>T - - - GPR179_000124 - - - - Unknown - - - - - IMGAG
+/. - c.1818G>A r.(?) p.(Trp606Ter) ACMG pathogenic (recessive) g.36489888C>T g.38334005C>T - - GPR179_000124 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 - - Germline - - - - - Johan den Dunnen
-?/. - c.1824C>T r.(?) p.(Leu608=) - likely benign g.36489882G>A - GPR179(NM_001004334.3):c.1824C>T (p.L608=) - GPR179_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1837T>C r.(?) p.(Phe613Leu) - likely benign g.36489869A>G - GPR179(NM_001004334.3):c.1837T>C (p.F613L) - GPR179_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1839C>T r.(?) p.(Phe613=) - likely benign g.36489867G>A g.38333984G>A GPR179(NM_001004334.3):c.1839C>T (p.F613=), GPR179(NM_001004334.4):c.1839C>T (p.F613=, p.(Phe613=)) - GPR179_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1839C>T r.(?) p.(Phe613=) - benign g.36489867G>A g.38333984G>A GPR179(NM_001004334.3):c.1839C>T (p.F613=), GPR179(NM_001004334.4):c.1839C>T (p.F613=, p.(Phe613=)) - GPR179_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1839C>T r.(?) p.(Phe613=) - VUS g.36489867G>A - GPR179(NM_001004334.3):c.1839C>T (p.F613=), GPR179(NM_001004334.4):c.1839C>T (p.F613=, p.(Phe613=)) - GPR179_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1891-18C>G r.(=) p.(=) - likely benign g.36489298G>C - GPR179(NM_001004334.4):c.1891-18C>G - GPR179_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1916G>A r.(?) p.(Arg639Gln) - VUS g.36489255C>T g.38333372C>T GPR179(NM_001004334.4):c.1916G>A (p.R639Q) - GPR179_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1939T>A r.(?) p.(Cys647Ser) - VUS g.36489232A>T - GPR179(NM_001004334.3):c.1939T>A (p.C647S) - GPR179_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2021A>G r.(?) p.(Asp674Gly) - VUS g.36489150T>C - GPR179(NM_001004334.3):c.2021A>G (p.D674G) - GPR179_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2022C>T r.(?) p.(Asp674=) - benign g.36489149G>A g.38333266G>A GPR179(NM_001004334.3):c.2022C>T (p.D674=), GPR179(NM_001004334.4):c.2022C>T (p.D674=) - GPR179_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.2022C>T r.(?) p.(Asp674=) - benign g.36489149G>A g.38333266G>A GPR179(NM_001004334.3):c.2022C>T (p.D674=), GPR179(NM_001004334.4):c.2022C>T (p.D674=) - GPR179_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 11 c.2257C>T r.(?) p.(Arg753Trp) - VUS g.36487195G>A - c.2257C>T - GPR179_000155 - PubMed: Panneman 2023 - - Unknown - - - - - Daan Panneman
-?/. - c.2306A>G r.(?) p.(His769Arg) - likely benign g.36487146T>C g.38331263T>C GPR179(NM_001004334.4):c.2306A>G (p.H769R) - GPR179_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.2413G>C r.(?) p.(Glu805Gln) - VUS g.36487039C>G g.38331156C>G GPR179(NM_001004334.3):c.2413G>C (p.E805Q), GPR179(NM_001004334.4):c.2413G>C (p.E805Q) - GPR179_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2413G>C r.(?) p.(Glu805Gln) - likely benign g.36487039C>G g.38331156C>G GPR179(NM_001004334.3):c.2413G>C (p.E805Q), GPR179(NM_001004334.4):c.2413G>C (p.E805Q) - GPR179_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.2457C>T r.(?) p.(Ser819=) - benign g.36486995G>A g.38331112G>A GPR179(NM_001004334.4):c.2457C>T (p.S819=) - GPR179_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2520G>A r.(?) p.(Ser840=) - likely benign g.36486932C>T - GPR179(NM_001004334.3):c.2520G>A (p.S840=) - GPR179_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2591G>A r.(?) p.(Arg864Gln) - likely benign g.36486861C>T g.38330978C>T GPR179(NM_001004334.2):c.2591G>A (p.(Arg864Gln)) - GPR179_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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