All variants in the PNPLA6 gene

Information The variants shown are described using the NM_006702.4 transcript reference sequence.

161 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.-904C>T r.(?) p.(=) - likely benign g.7598417C>T g.7533531C>T MCOLN1(NM_020533.2):c.1584C>T (p.(=)) - MCOLN1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.-261T>C r.(?) p.(=) - benign g.7599060T>C g.7534174T>C - - PNPLA6_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-196+210A>C r.(=) p.(=) - likely benign g.7599335A>C g.7534449A>C PNPLA6(NM_001166112.1):c.-196+3A>C (p.(=)) - MCOLN1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.-96A>C r.(?) p.(=) - benign g.7599735A>C g.7534849A>C - - PNPLA6_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-43+3G>A r.spl? p.? - likely benign g.7599791G>A g.7534905G>A PNPLA6(NM_001166111.1):c.-43+3G>A - MCOLN1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-43+220T>C r.(=) p.(=) - likely benign g.7600008T>C - PNPLA6(NM_001166113.1):c.-118-5T>C (p.(=)) - MCOLN1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.28-126G>A r.(=) p.(=) - likely benign g.7600693G>A - PNPLA6(NM_001166111.1):c.46G>A (p.G16R) - MCOLN1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.28-95T>C r.(=) p.(=) - likely benign g.7600724T>C - PNPLA6(NM_001166111.1):c.77T>C (p.V26A) - MCOLN1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.28-93del r.(=) p.(=) - VUS g.7600726del - PNPLA6(NM_001166111.1):c.79del (p.(Ala27ArgfsTer35)) - MCOLN1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.28-90G>T r.(=) p.(=) - likely pathogenic g.7600729G>T - PNPLA6(NM_001166114.2):c.55G>T (p.(Glu19*)) - MCOLN1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.28-51G>A r.(=) p.(=) - VUS g.7600768G>A g.7535882G>A PNPLA6(NM_001166111.1):c.121G>A (p.G41S), PNPLA6(NM_001166114.2):c.94G>A (p.(Gly32Ser)) - PNPLA6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.28-51G>A r.(=) p.(=) - likely benign g.7600768G>A - PNPLA6(NM_001166111.1):c.121G>A (p.G41S), PNPLA6(NM_001166114.2):c.94G>A (p.(Gly32Ser)) - PNPLA6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.28-14C>T r.(=) p.(=) - VUS g.7600805C>T g.7535919C>T PNPLA6(NM_001166111.1):c.158C>T (p.P53L) - MCOLN1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.45C>T r.(?) p.(Ile15=) - benign g.7600836C>T g.7535950C>T PNPLA6(NM_001166111.1):c.189C>T (p.I63=), PNPLA6(NM_001166111.2):c.189C>T (p.I63=), PNPLA6(NM_006702.5):c.45C>T (p.I15=) - MCOLN1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.45C>T r.(?) p.(Ile15=) - likely benign g.7600836C>T g.7535950C>T PNPLA6(NM_001166111.1):c.189C>T (p.I63=), PNPLA6(NM_001166111.2):c.189C>T (p.I63=), PNPLA6(NM_006702.5):c.45C>T (p.I15=) - MCOLN1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.45C>T r.(?) p.(Ile15=) - likely benign g.7600836C>T - PNPLA6(NM_001166111.1):c.189C>T (p.I63=), PNPLA6(NM_001166111.2):c.189C>T (p.I63=), PNPLA6(NM_006702.5):c.45C>T (p.I15=) - MCOLN1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.108A>G r.(?) p.(Arg36=) - likely benign g.7600899A>G g.7536013A>G PNPLA6(NM_001166111.1):c.252A>G (p.R84=) - PNPLA6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.177T>C r.(?) p.(Tyr59=) - likely benign g.7601138T>C - PNPLA6(NM_001166111.2):c.321T>C (p.Y107=) - MCOLN1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.198+13C>T r.(=) p.(=) - likely benign g.7601172C>T - PNPLA6(NM_001166111.2):c.342+13C>T - MCOLN1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.296+8T>A r.(=) p.(=) - benign g.7601440T>A g.7536554T>A PNPLA6(NM_001166111.2):c.440+8T>A - MCOLN1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.297-18C>T r.(=) p.(=) - likely benign g.7604786C>T g.7539900C>T PNPLA6(NM_001166111.2):c.441-18C>T - PNPLA6_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.297-18C>T r.(=) p.(=) - likely benign g.7604786C>T g.7539900C>T PNPLA6(NM_001166111.2):c.441-18C>T - PNPLA6_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.297-4_297-2del r.spl p.? ACMG VUS g.7604800_7604802del g.7539914_7539916del PNPLA6 c.297-4_297-2del, p.? - PNPLA6_000102 heterozygous, probably non-causal incidental finding PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - LOVD
+?/. - c.433G>A r.(?) p.(Val145Ile) - likely pathogenic g.7604940G>A g.7540054G>A PNPLA6(NM_001166111.2):c.577G>A (p.V193I) - PNPLA6_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.438-20G>A r.(=) p.(=) - benign g.7605015G>A g.7540129G>A PNPLA6(NM_001166111.2):c.582-20G>A - PNPLA6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.453C>T r.(?) p.(Phe151=) - likely benign g.7605050C>T - PNPLA6(NM_001166111.1):c.597C>T (p.F199=) - PNPLA6_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.605A>G r.(?) p.(Lys202Arg) - VUS g.7605523A>G - PNPLA6(NM_001166111.1):c.749A>G (p.K250R) - PNPLA6_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.642C>T r.(?) p.(Ser214=) - likely benign g.7605560C>T g.7540674C>T PNPLA6(NM_001166111.1):c.786C>T (p.S262=) - PNPLA6_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.648C>T r.(?) p.(Asn216=) - benign g.7605566C>T g.7540680C>T PNPLA6(NM_001166111.2):c.792C>T (p.N264=) - PNPLA6_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.648C>T r.(?) p.(Asn216=) - benign g.7605566C>T g.7540680C>T PNPLA6(NM_001166111.2):c.792C>T (p.N264=) - PNPLA6_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.678+3G>A r.spl? p.? - likely benign g.7605599G>A g.7540713G>A PNPLA6(NM_001166111.1):c.822+3G>A - PNPLA6_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.807+10C>A r.(=) p.(=) - likely benign g.7605947C>A g.7541061C>A PNPLA6(NM_001166111.1):c.951+10C>A - PNPLA6_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.859C>T r.(?) p.(Leu287=) - likely benign g.7606291C>T - PNPLA6(NM_001166111.2):c.1003C>T (p.L335=) - PNPLA6_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.888+9G>A r.(=) p.(=) - benign g.7606329G>A g.7541443G>A PNPLA6(NM_001166111.2):c.1032+9G>A - PNPLA6_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.888+20C>A r.(=) p.(=) - benign g.7606340C>A g.7541454C>A PNPLA6(NM_001166111.2):c.1032+20C>A - PNPLA6_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.889-2dup r.spl? p.? - pathogenic g.7606406dup g.7541520dup PNPLA6(NM_001166111.1):c.1033-2dupA - PNPLA6_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.912C>T r.(?) p.(Phe304=) - likely benign g.7606431C>T g.7541545C>T PNPLA6(NM_001166111.1):c.1056C>T (p.F352=) - PNPLA6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.992C>T r.(?) p.(Pro331Leu) - likely benign g.7606511C>T g.7541625C>T PNPLA6(NM_001166111.1):c.1136C>T (p.P379L) - PNPLA6_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1035G>A r.(?) p.(Pro345=) - likely benign g.7606554G>A - PNPLA6(NM_001166111.2):c.1179G>A (p.P393=) - PNPLA6_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1086C>A r.(?) p.(Pro362=) - likely benign g.7606904C>A g.7542018C>A PNPLA6(NM_001166111.1):c.1230C>A (p.P410=) - PNPLA6_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1090G>C r.(?) p.(Ala364Pro) - benign g.7606908G>C g.7542022G>C PNPLA6(NM_001166111.2):c.1234G>C (p.A412P), PNPLA6(NM_006702.5):c.1090G>C (p.A364P) - PNPLA6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1090G>C r.(?) p.(Ala364Pro) - benign g.7606908G>C g.7542022G>C PNPLA6(NM_001166111.2):c.1234G>C (p.A412P), PNPLA6(NM_006702.5):c.1090G>C (p.A364P) - PNPLA6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1090G>C r.(?) p.(Ala364Pro) - benign g.7606908G>C - PNPLA6(NM_001166111.2):c.1234G>C (p.A412P), PNPLA6(NM_006702.5):c.1090G>C (p.A364P) - PNPLA6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.1126dup r.(?) p.(Asp376GlyfsTer18) - pathogenic g.7606944dup g.7542058dup PNPLA6(NM_001166111.1):c.1270dupG (p.D424Gfs*18) - PNPLA6_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1136-18C>T r.(=) p.(=) - benign g.7607429C>T g.7542543C>T PNPLA6(NM_001166111.2):c.1280-18C>T - PNPLA6_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1136-6C>T r.(=) p.(=) - benign g.7607441C>T g.7542555C>T PNPLA6(NM_001166111.2):c.1280-6C>T - PNPLA6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1136-6C>T r.(=) p.(=) - benign g.7607441C>T g.7542555C>T PNPLA6(NM_001166111.2):c.1280-6C>T - PNPLA6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1154G>A r.(?) p.(Arg385His) - VUS g.7607465G>A - PNPLA6(NM_001166111.1):c.1298G>A (p.R433H) - PNPLA6_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1164C>T r.(?) p.(Phe388=) - likely benign g.7607475C>T - PNPLA6(NM_001166111.1):c.1308C>T (p.F436=) - PNPLA6_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1218C>T r.(?) p.(Ser406=) - likely benign g.7607529C>T g.7542643C>T PNPLA6(NM_001166111.1):c.1362C>T (p.S454=) - PNPLA6_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1245+8T>C r.(=) p.(=) - benign g.7607564T>C g.7542678T>C PNPLA6(NM_001166111.2):c.1389+8T>C - PNPLA6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1245+8T>C r.(=) p.(=) - benign g.7607564T>C g.7542678T>C PNPLA6(NM_001166111.2):c.1389+8T>C - PNPLA6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 14i_21i c.1246-27_2143+1200dup r.(dup) p.? - pathogenic g.7607620_7617523dup g.7542734_7552637dup dup(ex14-20) - PNPLA6_000007 - PubMed: Hufnagel 2015, Journal: Hufnagel 2015 - - Unknown yes - - - - Johan den Dunnen
?/. - c.1313C>T r.(?) p.(Ser438Leu) - VUS g.7607714C>T g.7542828C>T PNPLA6(NM_001166111.1):c.1457C>T (p.S486L) - PNPLA6_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1340C>T r.(?) p.(Pro447Leu) - likely benign g.7607741C>T g.7542855C>T PNPLA6(NM_001166111.1):c.1484C>T (p.(Pro495Leu)), PNPLA6(NM_001166111.2):c.1484C>T (p.P495L) - PNPLA6_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1340C>T r.(?) p.(Pro447Leu) - likely benign g.7607741C>T g.7542855C>T PNPLA6(NM_001166111.1):c.1484C>T (p.(Pro495Leu)), PNPLA6(NM_001166111.2):c.1484C>T (p.P495L) - PNPLA6_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1340C>T r.(?) p.(Pro447Leu) - likely benign g.7607741C>T - PNPLA6(NM_001166111.1):c.1484C>T (p.(Pro495Leu)), PNPLA6(NM_001166111.2):c.1484C>T (p.P495L) - PNPLA6_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1368C>T r.(?) p.(Ile456=) - likely benign g.7607769C>T g.7542883C>T PNPLA6(NM_001166111.1):c.1512C>T (p.I504=), PNPLA6(NM_001166111.2):c.1512C>T (p.I504=) - PNPLA6_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1368C>T r.(?) p.(Ile456=) - benign g.7607769C>T g.7542883C>T PNPLA6(NM_001166111.1):c.1512C>T (p.I504=), PNPLA6(NM_001166111.2):c.1512C>T (p.I504=) - PNPLA6_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 16 c.1472T>C r.(?) p.(Ile491Thr) - VUS g.7607951T>C g.7543065T>C - - PNPLA6_000090 - PubMed: Ganapathy 2019 - rs1246639539 Germline - - - - - Johan den Dunnen
?/. - c.1477C>T r.(?) p.(Arg493Cys) - VUS g.7607956C>T g.7543070C>T PNPLA6(NM_001166111.2):c.1621C>T (p.R541C) - PNPLA6_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.1489C>T r.(?) p.(Gln497*) - pathogenic g.7607968C>T - - - PNPLA6_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1491+10_1491+15del r.(=) p.(=) - VUS g.7607980_7607985del g.7543094_7543099del PNPLA6(NM_001166111.1):c.1635+10_1635+15delACCCCT - PNPLA6_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 13i c.1491+10_1491+18delinsGT r.[1558_1635del,=] p.[Pro473_Asp498del,=] - likely pathogenic g.7607980_7607988delinsGT g.7543094_7543102delinsGT NM_001166111.1:c.1635+10_1635+18delinsGT - PNPLA6_000110 effect on RNA exon skipping - - - Germline/De novo (untested) - - - - - Tjakko van Ham
?/. - c.1492-3C>T r.spl? p.? - VUS g.7614790C>T - PNPLA6(NM_001166114.2):c.1609-3C>T - PNPLA6_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1611G>T r.(?) p.(Ala537=) - benign g.7614912G>T g.7550026G>T PNPLA6(NM_001166111.2):c.1755G>T (p.A585=) - PNPLA6_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1645C>G r.(?) p.(Arg549Gly) - VUS g.7614946C>G g.7550060C>G - - PNPLA6_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1818C>G r.(?) p.(Arg606=) - benign g.7615304C>G g.7550418C>G PNPLA6(NM_001166111.1):c.1962C>G (p.R654=), PNPLA6(NM_001166111.2):c.1962C>G (p.R654=) - PNPLA6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1818C>G r.(?) p.(Arg606=) - likely benign g.7615304C>G g.7550418C>G PNPLA6(NM_001166111.1):c.1962C>G (p.R654=), PNPLA6(NM_001166111.2):c.1962C>G (p.R654=) - PNPLA6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 18i c.1829+2T>G r.spl p.? - pathogenic g.7615317T>G g.7550431T>G NM_001166111.1:c.1973+2T>G - PNPLA6_000005 - PubMed: Hufnagel 2015, Journal: Hufnagel 2015 - - Unknown yes - - - - Johan den Dunnen
?/. - c.1948G>A r.(?) p.(Gly650Ser) - VUS g.7615521G>A - PNPLA6(NM_001166111.1):c.2092G>A (p.G698S) - PNPLA6_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1953+6C>G r.(=) p.(=) - likely benign g.7615532C>G - PNPLA6(NM_001166114.2):c.2070+6C>G - PNPLA6_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1977G>A r.(?) p.(Pro659=) - benign g.7615903G>A g.7551017G>A PNPLA6(NM_001166111.2):c.2121G>A (p.P707=) - PNPLA6_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1977G>A r.(?) p.(Pro659=) - benign g.7615903G>A g.7551017G>A PNPLA6(NM_001166111.2):c.2121G>A (p.P707=) - PNPLA6_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.2016G>A r.(?) p.(Leu672=) - benign g.7615942G>A g.7551056G>A PNPLA6(NM_001166111.1):c.2160G>A (p.L720=), PNPLA6(NM_001166111.2):c.2160G>A (p.L720=), PNPLA6(NM_006702.5):c.2016G>A (p.L672=) - PNPLA6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.2016G>A r.(?) p.(Leu672=) - benign g.7615942G>A g.7551056G>A PNPLA6(NM_001166111.1):c.2160G>A (p.L720=), PNPLA6(NM_001166111.2):c.2160G>A (p.L720=), PNPLA6(NM_006702.5):c.2016G>A (p.L672=) - PNPLA6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2016G>A r.(?) p.(Leu672=) - likely benign g.7615942G>A - PNPLA6(NM_001166111.1):c.2160G>A (p.L720=), PNPLA6(NM_001166111.2):c.2160G>A (p.L720=), PNPLA6(NM_006702.5):c.2016G>A (p.L672=) - PNPLA6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 20 c.2032G>C r.(?) p.(Gly678Arg) - pathogenic g.7615958G>C g.7551072G>C NM_001166111.1 .Gly726Arg - PNPLA6_000008 - PubMed: Hufnagel 2015, Journal: Hufnagel 2015 - - Germline yes - - - - Johan den Dunnen
?/. - c.2048T>C r.(?) p.(Ile683Thr) - VUS g.7615974T>C g.7551088T>C PNPLA6(NM_001166111.1):c.2192T>C (p.I731T) - PNPLA6_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2065C>A r.(?) p.(Gln689Lys) - VUS g.7615991C>A - - - PNPLA6_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.2068-15C>T r.(=) p.(=) - benign g.7616233C>T g.7551347C>T PNPLA6(NM_001166111.2):c.2212-15C>T - PNPLA6_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2245G>A r.(?) p.(Val749Met) - likely benign g.7618859G>A g.7553973G>A PNPLA6(NM_001166111.1):c.2389G>A (p.V797M), PNPLA6(NM_001166111.2):c.2389G>A (p.V797M) - PNPLA6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2245G>A r.(?) p.(Val749Met) - likely benign g.7618859G>A g.7553973G>A PNPLA6(NM_001166111.1):c.2389G>A (p.V797M), PNPLA6(NM_001166111.2):c.2389G>A (p.V797M) - PNPLA6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2245G>A r.(?) p.(Val749Met) - likely benign g.7618859G>A g.7553973G>A PNPLA6(NM_001166111.1):c.2389G>A (p.V797M), PNPLA6(NM_001166111.2):c.2389G>A (p.V797M) - PNPLA6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2245G>A r.(?) p.(Val749Met) - likely benign g.7618859G>A - PNPLA6(NM_001166111.1):c.2389G>A (p.V797M), PNPLA6(NM_001166111.2):c.2389G>A (p.V797M) - PNPLA6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2271C>T r.(?) p.(His757=) - likely benign g.7618885C>T - PNPLA6(NM_001166111.1):c.2415C>T (p.H805=) - PNPLA6_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2361G>A r.(?) p.(Glu787=) - benign g.7619450G>A g.7554564G>A PNPLA6(NM_001166111.2):c.2505G>A (p.E835=) - PNPLA6_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.2412A>T r.(?) p.(=) - VUS g.7619501A>T - PNPLA6(NM_001166114.2):c.2526A>T (p.(Val842=)) - PNPLA6_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.2433G>A r.(?) p.(Ser811=) - benign g.7619522G>A g.7554636G>A PNPLA6(NM_006702.4):c.2433G>A - PNPLA6_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.2521-19A>C r.(=) p.(=) - benign g.7619760A>C g.7554874A>C PNPLA6(NM_001166111.2):c.2665-19A>C - PNPLA6_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.2521-19A>C r.(=) p.(=) - benign g.7619760A>C g.7554874A>C PNPLA6(NM_001166111.2):c.2665-19A>C - PNPLA6_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.2592C>T r.(?) p.(Gly864=) - benign g.7619850C>T g.7554964C>T PNPLA6(NM_001166111.2):c.2736C>T (p.G912=), PNPLA6(NM_006702.5):c.2592C>T (p.G864=) - PNPLA6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2592C>T r.(?) p.(Gly864=) - likely benign g.7619850C>T - PNPLA6(NM_001166111.2):c.2736C>T (p.G912=), PNPLA6(NM_006702.5):c.2592C>T (p.G864=) - PNPLA6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.2649C>A r.(?) p.(His883Gln) - VUS g.7619907C>A - PNPLA6(NM_001166111.1):c.2793C>A (p.H931Q), PNPLA6(NM_001166114.2):c.2763C>A (p.(His921Gln)) - PNPLA6_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2649C>A r.(?) p.(His883Gln) - VUS g.7619907C>A - PNPLA6(NM_001166111.1):c.2793C>A (p.H931Q), PNPLA6(NM_001166114.2):c.2763C>A (p.(His921Gln)) - PNPLA6_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.2704-19A>G r.(=) p.(=) - benign g.7620116A>G g.7555230A>G PNPLA6(NM_001166111.2):c.2848-19A>G - PNPLA6_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.2704-19A>G r.(=) p.(=) - benign g.7620116A>G g.7555230A>G PNPLA6(NM_001166111.2):c.2848-19A>G - PNPLA6_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2814C>T r.(?) p.(Gly938=) - likely benign g.7620245C>T - PNPLA6(NM_001166111.2):c.2958C>T (p.G986=) - PNPLA6_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2822+17C>T r.(=) p.(=) - likely benign g.7620270C>T - PNPLA6(NM_001166111.2):c.2966+17C>T - PNPLA6_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2822+19C>T r.(=) p.(=) - likely benign g.7620272C>T g.7555386C>T - - PNPLA6_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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