Unique variants in the GFAP gene

Information The variants shown are described using the NM_002055.4 transcript reference sequence.

82 entries on 1 page. Showing entries 1 - 82.
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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.-154451_*192694del r.0? p.0? - VUS g.42792021_43147305del g.44714653_45069937del - - DBF4B_000002 array 42792021–43147305x1 - - - Unknown - - - - - Johan den Dunnen
-?/. 2 - c.34C>T r.(?) p.(Arg12Cys) - likely benign g.42992821G>A g.44915453G>A GFAP(NM_001131019.2):c.34C>T (p.(Arg12Cys)), GFAP(NM_002055.4):c.34C>T (p.R12C) - GFAP_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen
?/. 1 - c.43G>A r.(?) p.(Val15Ile) - VUS g.42992812C>T g.44915444C>T GFAP(NM_001131019.2):c.43G>A (p.(Val15Ile)) - GFAP_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 2 - c.96T>C r.(?) p.(Gly32=) - benign, likely benign g.42992759A>G g.44915391A>G GFAP(NM_001131019.2):c.96T>C (p.(Gly32=)), GFAP(NM_002055.4):c.96T>C (p.G32=) - GFAP_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.126G>A r.(?) p.(Met42Ile) - VUS g.42992729C>T g.44915361C>T GFAP(NM_001131019.2):c.126G>A (p.(Met42Ile)) - GFAP_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.140C>T r.(?) p.(Pro47Leu) - likely benign g.42992715G>A g.44915347G>A GFAP(NM_001131019.2):c.140C>T (p.(Pro47Leu)), GFAP(NM_002055.4):c.140C>T (p.P47L) - GFAP_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen
-?/. 1 - c.141G>A r.(?) p.(Pro47=) - likely benign g.42992714C>T g.44915346C>T GFAP(NM_001131019.2):c.141G>A (p.(Pro47=)) - GFAP_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.159C>T r.(?) p.(Ser53=) - likely benign g.42992696G>A - GFAP(NM_001131019.2):c.159C>T (p.(=)) - GFAP_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 1 c.229A>G r.(?) p.(Asn77Asp) - VUS g.42992626T>C g.44915258T>C - - GFAP_000061 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.236G>T r.(?) p.(Arg79Leu) - pathogenic g.42992619C>A g.44915251C>A GFAP(NM_002055.4):c.236G>T (p.R79L) - GFAP_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.242C>A r.(?) p.(Ala81Asp) ACMG pathogenic (dominant) g.42992613G>T g.44915245G>T - - GFAP_000072 ACMG PS2, PM1, PM2, PP2, PP3 PubMed: Marinakis 2021 - - De novo - - - - - Jan Traeger-Synodinos
-?/. 1 - c.243C>T r.(?) p.(Ala81=) - likely benign g.42992612G>A g.44915244G>A GFAP(NM_002055.4):c.243C>T (p.A81=) - GFAP_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.252C>T r.(?) p.(Ile84=) - likely benign g.42992603G>A - GFAP(NM_001363846.1):c.252C>T (p.I84=) - GFAP_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.259G>A r.(?) p.(Val87Ile) - VUS g.42992596C>T g.44915228C>T - - GFAP_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 1 c.262C>T r.(?) p.(Arg88Cys) - pathogenic g.42992593G>A g.44915225G>A GFAP(NM_002055.4):c.262C>T (p.R88C) - GFAP_000045 VKGL data sharing initiative Nederland PubMed: Ganapathy 2019 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_VUmc
?/. 1 - c.263G>A r.(?) p.(Arg88His) - VUS g.42992592C>T - GFAP(NM_002055.4):c.263G>A (p.R88H) - GFAP_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.287C>T r.(?) p.(Ala96Val) - likely benign g.42992568G>A g.44915200G>A GFAP(NM_001363846.1):c.287C>T (p.A96V) - GFAP_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 3 - c.313C>T r.(?) p.(Arg105Trp) - likely benign, VUS g.42992542G>A g.44915174G>A GFAP(NM_001131019.2):c.313C>T (p.(Arg105Trp)), GFAP(NM_002055.4):c.313C>T (p.R105W) - GFAP_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 2 - c.329C>G r.(?) p.(Thr110Ser) - likely benign g.42992526G>C g.44915158G>C GFAP(NM_002055.4):c.329C>G (p.T110S) - GFAP_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 1 c.362G>A r.(?) p.(Arg121Gln) - VUS g.42992493C>T g.44915125C>T - - GFAP_000060 - PubMed: Ganapathy 2019 - rs769619261 Germline - - - - - Johan den Dunnen
?/. 1 - c.370C>A r.(?) p.(Arg124=) - VUS g.42992485G>T g.44915117G>T GFAP(NM_001131019.2):c.370C>A (p.(=)) - GFAP_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.381C>T r.(?) p.(Leu127=) - likely benign g.42992474G>A g.44915106G>A GFAP(NM_002055.4):c.381C>T (p.L127=) - GFAP_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.388C>G r.(?) p.(Leu130Val) - VUS g.42992467G>C - GFAP(NM_002055.4):c.388C>G (p.L130V) - GFAP_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.394G>A r.(?) p.(Ala132Thr) - VUS g.42992461C>T g.44915093C>T GFAP(NM_001131019.2):c.394G>A (p.(Ala132Thr)) - GFAP_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.406C>T r.(?) p.(Arg136Trp) - VUS g.42992449G>A - GFAP(NM_001131019.2):c.406C>T (p.(Arg136Trp)) - GFAP_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.420G>A r.(?) p.(Glu140=) - likely benign g.42992435C>T - GFAP(NM_001131019.2):c.420G>A (p.(=)) - GFAP_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.461+9G>A r.(=) p.(=) - likely benign g.42992385C>T - GFAP(NM_001363846.1):c.461+9G>A - GFAP_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.462-8dup r.(=) p.(=) - benign, likely benign g.42991469dup g.44914101dup GFAP(NM_001131019.2):c.462-8dup (p.(=)), GFAP(NM_002055.4):c.462-8dupC - GFAP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-/., -?/. 3 - c.469G>A r.(?) p.(Asp157Asn) - benign, likely benign g.42991449C>T g.44914081C>T GFAP(NM_001131019.2):c.469G>A (p.(Asp157Asn)) - GFAP_000014 3 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs59291670 CLASSIFICATION record, Germline - 3/2795 individuals - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen, Mohammed Faruq
?/. 1 - c.521A>T r.(?) p.(Gln174Leu) - VUS g.42991397T>A - GFAP(NM_001131019.2):c.521A>T (p.(Gln174Leu)) - GFAP_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.522+4A>T r.spl? p.? - VUS g.42991392T>A g.44914024T>A GFAP(NM_001131019.2):c.522+4A>T (p.?) - GFAP_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.522+8A>T r.(=) p.(=) - VUS g.42991388T>A g.44914020T>A GFAP(NM_001131019.2):c.522+8A>T (p.(=)) - GFAP_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.522+14A>T r.(=) p.(=) - VUS g.42991382T>A g.44914014T>A GFAP(NM_001131019.2):c.522+14A>T (p.(=)) - GFAP_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.522+19A>T r.(=) p.(=) - VUS g.42991377T>A g.44914009T>A GFAP(NM_001131019.2):c.522+19A>T (p.(=)) - GFAP_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.523-18C>T r.(=) p.(=) - VUS g.42991209G>A g.44913841G>A GFAP(NM_001131019.2):c.523-18C>T (p.(=)) - GFAP_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.523-11T>C r.(=) p.(=) - likely benign g.42991202A>G - GFAP(NM_001131019.2):c.523-11T>C (p.(=)) - GFAP_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.548G>A r.(?) p.(Arg183His) - VUS g.42991166C>T g.44913798C>T GFAP(NM_001131019.2):c.548G>A (p.(Arg183His)) - GFAP_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.649C>T r.(?) p.(Arg217Ter) - VUS g.42990768G>A g.44913400G>A GFAP(NM_001131019.2):c.649C>T (p.(Arg217Ter)) - GFAP_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.675C>T r.(?) p.(Asp225=) - likely benign g.42990742G>A g.44913374G>A GFAP(NM_002055.4):c.675C>T (p.D225=) - GFAP_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.676G>A r.(?) p.(Val226Met) - likely benign, VUS g.42990741C>T g.44913373C>T GFAP(NM_001131019.2):c.676G>A (p.(Val226Met)), GFAP(NM_002055.4):c.676G>A (p.V226M) - GFAP_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.692T>A r.(?) p.(Leu231His) - VUS g.42990725A>T - - - GFAP_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.720G>T r.(?) p.(Thr240=) - likely benign g.42990697C>A g.44913329C>A GFAP(NM_001131019.2):c.720G>T (p.(Thr240=)) - GFAP_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 2 - c.738G>A r.(?) p.(Ala246=) - benign, likely benign g.42990679C>T g.44913311C>T GFAP(NM_001131019.2):c.738G>A (p.(Ala246=)) - GFAP_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
?/. 1 - c.857G>A r.(?) p.(Arg286Gln) - VUS g.42989089C>T - - - GFAP_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.858G>A r.(?) p.(Arg286=) - benign g.42989088C>T g.44911720C>T - - GFAP_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.883G>A r.(?) p.(Asp295Asn) - likely benign g.42989063C>T g.44911695C>T GFAP(NM_001131019.2):c.883G>A (p.(Asp295Asn)) - GFAP_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.891G>A r.(?) p.(Glu297=) - VUS g.42989055C>T g.44911687C>T GFAP(NM_001131019.2):c.891G>A (p.(Glu297=)) - GFAP_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.893C>T r.(?) p.(Ser298Phe) - VUS g.42989053G>A g.44911685G>A GFAP(NM_001363846.1):c.893C>T (p.S298F) - GFAP_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 5 c.901G>C r.(?) p.(Gly301Arg) - VUS g.42989045C>G g.44911677C>G - - GFAP_000059 - PubMed: Ganapathy 2019 - rs1265636628 Germline - - - - - Johan den Dunnen
?/. 1 - c.920A>C r.(?) p.(Glu307Ala) - VUS g.42988811T>G g.44911443T>G GFAP(NM_002055.4):c.920A>C (p.E307A) - GFAP_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 3 - c.947G>A r.(?) p.(Arg316Gln) - likely benign, VUS g.42988784C>T g.44911416C>T 1 more item - GFAP_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.957G>A r.(?) p.(Arg319=) - likely benign g.42988774C>T g.44911406C>T GFAP(NM_001131019.2):c.957G>A (p.(Arg319=)) - GFAP_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1031G>T r.(?) p.(Arg344Leu) - likely benign g.42988700C>A g.44911332C>A - - GFAP_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1049A>G r.(?) p.(Gln350Arg) - VUS g.42988682T>C - - - GFAP_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 06 c.1072G>A r.(?) p.(Ala358Thr) - pathogenic g.42988659C>T g.44911291C>T - - GFAP_000024 - - - - Germline - - - - - Gemeinschaftspraxis für Humangenetik Dresden
?/. 1 - c.1088T>C r.(?) p.(Ile363Thr) - VUS g.42988643A>G - - - GFAP_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1100G>C r.(?) p.(Arg367Thr) - pathogenic (dominant) g.42988631C>G g.44911263C>G - - GFAP_000055 - PubMed: Pronicka 2016 - - De novo - 1/113 cases - - - Johan den Dunnen
-?/. 1 - c.1171+20G>C r.(=) p.(=) - likely benign g.42987963C>G - GFAP(NM_001242376.1):c.1191G>C (p.S397=) - GFAP_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1171+21T>C r.(=) p.(=) - likely benign g.42987962A>G - GFAP(NM_001131019.2):c.1171+21T>C (p.(=)) - GFAP_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1171+37G>A r.(=) p.(=) - likely benign g.42987946C>T g.44910578C>T GFAP(NM_001242376.1):c.1208G>A (p.S403N) - GFAP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1171+139G>A r.(=) p.(=) - VUS g.42987844C>T g.44910476C>T GFAP(NM_001131019.2):c.1171+139G>A (p.(=)) - GFAP_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1171+388A>C r.(=) p.(=) - VUS g.42987595T>G g.44910227T>G GFAP(NM_001131019.2):c.1205A>C (p.(Lys402Thr)) - GFAP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1171+416_1171+420del r.(=) p.(=) - VUS g.42987565_42987569del g.44910197_44910201del GFAP(NM_001131019.2):c.1233_1237del (p.(Ile412SerfsTer32)) - GFAP_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1171+420C>T r.(=) p.(=) - VUS g.42987563G>A - GFAP(NM_001131019.2):c.1237C>T (p.(Arg413*)) - GFAP_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1171+421G>A r.(=) p.(=) - likely benign g.42987562C>T g.44910194C>T GFAP(NM_001131019.2):c.1238G>A (p.R413Q) - GFAP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1171+459A>G r.(=) p.(=) - benign g.42987524T>C g.44910156T>C GFAP(NM_001131019.3):c.1276A>G (p.T426A) - GFAP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., -?/. 3 - c.1171+471C>T r.(=) p.(=) - benign, likely benign g.42987512G>A g.44910144G>A GFAP(NM_001131019.2):c.1288C>T (p.(Arg430Cys)) - GFAP_000002 2 homozygous; Clinindb (India), 55 heterozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs78994946 CLASSIFICATION record, Germline - 2/2795 individuals, 55/2795 individuals - - - VKGL-NL_Leiden, Mohammed Faruq
?/. 2 - c.1171+474G>A r.(=) p.(=) - VUS g.42987509C>T g.44910141C>T GFAP(NM_001131019.2):c.1291G>A (p.G431S), GFAP(NM_001363846.1):c.1291G>A (p.E431K) - GFAP_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.1221C>T r.(?) p.(Asn407=) - likely benign g.42985468G>A g.44908100G>A GFAP(NM_002055.4):c.1221C>T (p.N407=) - GFAP_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1222A>G r.(?) p.(Ile408Val) - VUS g.42985467T>C g.44908099T>C GFAP(NM_002055.4):c.1222A>G (p.I408V) - GFAP_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.1246C>T r.(?) p.(Arg416Trp) - pathogenic g.42985443G>A - GFAP(NM_002055.4):c.1246C>T (p.R416W) - GFAP_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/., ?/. 2 - c.1247G>A r.(?) p.(Arg416Gln) - likely benign, VUS g.42985442C>T g.44908074C>T GFAP(NM_001131019.2):c.*2062G>A (p.(=)), GFAP(NM_002055.4):c.1247G>A (p.R416Q) - GFAP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
?/. 1 - c.1256A>G r.(?) p.(Glu419Gly) - VUS g.42985433T>C - GFAP(NM_001363846.1):c.1376A>G (p.E459G) - GFAP_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.1295T>C r.(?) p.(Met432Thr) - VUS g.42984719A>G g.44907351A>G - - GFAP_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.*630G>A r.(=) p.(=) - likely benign g.42984085C>T g.44906717C>T - - GFAP_000056 22 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs72828813 Germline - 22/2793 individuals - - - Mohammed Faruq
-?/. 1 - c.*2433T>G r.(=) p.(=) - likely benign g.42982282A>C - CCDC103(XM_005257352.1):c.1085A>C (p.(His362Pro)) - GFAP_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.*4526C>T r.(=) p.(=) - benign g.42980189G>A g.44902821G>A CCDC103(NM_001258397.3):c.*483G>A - CCDC103_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.*4549T>C r.(=) p.(=) - likely benign g.42980166A>G g.44902798A>G CCDC103(NM_001258395.1):c.710A>G (p.(Glu237Gly)) - CCDC103_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.*5045G>T r.(=) p.(=) - benign g.42979670C>A g.44902302C>A CCDC103(NM_001258397.3):c.277-16C>A - CCDC103_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.*6279C>T r.(=) p.(=) - likely benign g.42978436G>A g.44901068G>A CCDC103(NM_001258395.1):c.70G>A (p.(Glu24Lys)) - EFTUD2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*6314A>G r.(=) p.(=) - VUS g.42978401T>C g.44901033T>C CCDC103(NM_001258395.1):c.35T>C (p.(Leu12Ser)) - CCDC103_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*7486A>G r.(=) p.(=) - VUS g.42977229T>C g.44899861T>C CCDC103(NM_001258397.1):c.-10+2T>C (p.(=)) - EFTUD2_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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