Full data view for gene GFAP

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

231 entries on 3 pages. Showing entries 1 - 100.
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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     
-/. 9 c.*21C>G r.(?) p.? Unknown - benign g.42984694G>C g.44907326G>C - - GFAP_000102 - PubMed: Brenner 2001 - - Germline - - - - - DNA SEQ - - ALXDRD Pat5 PubMed: Brenner 2001 2-generation family, 1 affected, unaffected non carrier parents F - United States - 10y - - - 1 Johan den Dunnen
-/. 9 c.*21C>G r.(?) p.? Unknown - benign g.42984694G>C g.44907326G>C - - GFAP_000102 - PubMed: Brenner 2001 - - Germline - - - - - DNA SEQ - - ALXDRD Pat7 PubMed: Brenner 2001 - F - United States - 11m - - - 1 Johan den Dunnen
?/? - c.-154451_*192694del r.0? p.0? Unknown - VUS g.42792021_43147305del g.44714653_45069937del - - DBF4B_000002 array 42792021–43147305x1 - - - Unknown - - - - - DNA arrayCNV - - MFDGA;MFDM - PubMed: Lines 2012 - F no - - - - - - 1 Johan den Dunnen
-?/. - c.34C>T r.(?) p.(Arg12Cys) Unknown - likely benign g.42992821G>A g.44915453G>A GFAP(NM_001131019.2):c.34C>T (p.(Arg12Cys)), GFAP(NM_002055.5):c.34C>T (p.R12C) - GFAP_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.34C>T r.(?) p.(Arg12Cys) Unknown - likely benign g.42992821G>A - GFAP(NM_001131019.2):c.34C>T (p.(Arg12Cys)), GFAP(NM_002055.5):c.34C>T (p.R12C) - GFAP_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.43G>A r.(?) p.(Val15Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.68G>C r.(?) p.(Gly23Ala) Unknown - VUS g.42992787C>G - GFAP(NM_002055.4):c.68G>C (p.(Gly23Ala)) - GFAP_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.96T>C r.(?) p.(Gly32=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.96T>C r.(?) p.(Gly32=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.126G>A r.(?) p.(Met42Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.140C>T r.(?) p.(Pro47Leu) Unknown - likely benign g.42992715G>A g.44915347G>A GFAP(NM_001131019.2):c.140C>T (p.(Pro47Leu)), GFAP(NM_002055.5):c.140C>T (p.P47L) - GFAP_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.140C>T r.(?) p.(Pro47Leu) Unknown - likely benign g.42992715G>A g.44915347G>A GFAP(NM_001131019.2):c.140C>T (p.(Pro47Leu)), GFAP(NM_002055.5):c.140C>T (p.P47L) - GFAP_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.140C>T r.(?) p.(Pro47Leu) Unknown - benign g.42992715G>A g.44915347G>A 154C>T - GFAP_000021 - PubMed: Brenner 2001 - - Germline - - - - - DNA SEQ - - ALXDRD Pat4 PubMed: Brenner 2001 - F - United States - 11y - - - 1 Johan den Dunnen
-?/. - c.140C>T r.(?) p.(Pro47Leu) Parent #1 - likely benign g.42992715G>A g.44915347G>A - - GFAP_000021 - PubMed: Li 2005 - - Germline no 1/76 chromosomes - - - DNA SEQ - - ALXDRD Pat20 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents M - Netherlands - 8y - - - 1 Johan den Dunnen
-?/. - c.141G>A r.(?) p.(Pro47=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.141G>A r.(?) p.(Pro47=) Unknown - benign g.42992714C>T g.44915346C>T 155G>A - GFAP_000047 - PubMed: Brenner 2001 - - Germline - - - - - DNA SEQ - - ALXDRD Pat11 PubMed: Brenner 2001 - F - United States - 4m - - - 1 Johan den Dunnen
-/. 1 c.141G>A r.(?) p.(Pro47=) Parent #1 - likely benign g.42992714C>T g.44915346C>T - - GFAP_000047 - PubMed: Li 2005 - - Germline no 2/76 chromosomes - - - DNA SEQ - - ALXDRD Pat19 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents M - Netherlands - - - - - 1 Johan den Dunnen
-?/. 1 c.141G>A r.(?) p.(Pro47=) Parent #1 - likely benign g.42992714C>T g.44915346C>T - - GFAP_000047 - PubMed: Li 2005 - - Germline no 2/76 chromosomes - - - DNA SEQ - - ALXDRD Pat29 PubMed: Li 2005 - F - Netherlands - - - - - 1 Johan den Dunnen
?/. - c.157T>C r.(?) p.(Ser53Pro) Unknown - VUS g.42992698A>G - GFAP(NM_002055.4):c.157T>C (p.(Ser53Pro)) - GFAP_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.159C>T r.(?) p.(Ser53=) Unknown - likely benign g.42992696G>A - GFAP(NM_001131019.2):c.159C>T (p.(Ser53=)) - GFAP_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.187A>C r.(?) p.(Lys63Gln) Unknown - pathogenic (dominant) g.42992668T>G g.44915300T>G - - GFAP_000128 - PubMed: Li 2005 - - Germline/De novo (untested) - - - - - DNA SEQ - - ALXDRD Pat1 PubMed: Li 2005 - F - United States - - - - - 1 Johan den Dunnen
+/. - c.218T>A r.(?) p.(Met73Lys) Unknown - pathogenic g.42992637A>T g.44915269A>T - - GFAP_000134 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
+/. 1 c.218T>G r.(?) p.(Met73Arg) Unknown - pathogenic (dominant) g.42992637A>C g.44915269A>C - - GFAP_000127 - PubMed: Li 2005 - - De novo - - - - - DNA SEQ - - ALXDRD Pat2 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents M - Netherlands - - - - - 1 Johan den Dunnen
-?/. - c.220A>G r.(?) p.(Met74Val) Unknown - likely benign g.42992635T>C - GFAP(NM_002055.4):c.220A>G (p.(Met74Val)) - GFAP_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.226C>G r.(?) p.(Leu76Val) Unknown - pathogenic (dominant) g.42992629G>C g.44915261G>C - - GFAP_000126 - PubMed: Li 2005 - - De novo - - - - - DNA SEQ - - ALXDRD Pat4 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents F - United States - 10y7m - - - 1 Johan den Dunnen
+/. 1 c.226C>T r.(?) p.(Leu76Phe) Unknown - pathogenic (dominant) g.42992629G>A g.44915261G>A 240C>T L76F* - GFAP_000125 - PubMed: Rodriguez 2001 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ALXDRD Pat1 PubMed: Rodriguez 2001 - - - France - 5.4y - - - 1 Johan den Dunnen
+/. 1 c.226C>T r.(?) p.(Leu76Phe) Unknown - pathogenic (dominant) g.42992629G>A g.44915261G>A - - GFAP_000125 - PubMed: Li 2005 - - De novo - - - - - DNA SEQ - - ALXDRD Pat3 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents F - United States - - - - - 1 Johan den Dunnen
?/. 1 c.229A>G r.(?) p.(Asn77Asp) Unknown - VUS g.42992626T>C g.44915258T>C - - GFAP_000061 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-2346 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. 1 c.229A>T r.(?) p.(Asn77Tyr) Unknown - pathogenic (dominant) g.42992626T>A g.44915258T>A 243A>T N77Y* - GFAP_000124 - PubMed: Rodriguez 2001 - - De novo - - - - - DNA SEQ, SEQ-NG - - ALXDRD Pat2 PubMed: Rodriguez 2001 2-generation family, 1 affected, unaffected non carrier parents - - France - - - - - 1 Johan den Dunnen
+/. 1 c.230A>G r.(?) p.(Asn77Ser) Unknown - pathogenic (dominant) g.42992625T>C g.44915257T>C - - GFAP_000123 - PubMed: Li 2005 - - De novo - - - - - DNA SEQ - - ALXDRD Pat5 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents F - United States - 2y3m - - - 1 Johan den Dunnen
+/. - c.234C>A r.(?) p.(Asp78Glu) Parent #1 - pathogenic (dominant) g.42992621G>T g.44915253G>T - - GFAP_000101 - PubMed: Stumpf 2003 - - Germline yes - - - - DNA SEQ - - ALXDRD patient PubMed: Stumpf 2003 4-generation family, 9 affected (4F, 5M) F;M - Canada - - - - - 1 Johan den Dunnen
+/. - c.235C>T r.(?) p.(Arg79Cys) Unknown - pathogenic g.42992620G>A - GFAP(NM_002055.5):c.235C>T (p.R79C) - GFAP_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.235C>T r.(?) p.(Arg79Cys) Unknown - pathogenic g.42992620G>A - GFAP(NM_002055.5):c.235C>T (p.R79C) - GFAP_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.235C>T r.(?) p.(Arg79Cys) Unknown - pathogenic g.42992620G>A g.44915252G>A NM_001242376:c.235C>T - GFAP_000081 - PubMed: Salinas 2020 VCV000016171.1 - Unknown - - - - - DNA SEQ-NG - gene panel ? Pat26 PubMed: Salinas 2020 patient M - - - - - - - 1 Johan den Dunnen
+/. 1 c.235C>T r.(?) p.(Arg79Cys) Unknown - pathogenic (dominant) g.42992620G>A g.44915252G>A 249C>T R79C - GFAP_000081 - PubMed: Brenner 2001 - - Germline/De novo (untested) - - - - - DNA SEQ - - ALXDRD Pat1 PubMed: Brenner 2001 - M - United States - 14y - - - 1 Johan den Dunnen
+/. 1 c.235C>T r.(?) p.(Arg79Cys) Unknown - pathogenic (dominant) g.42992620G>A g.44915252G>A - - GFAP_000081 - PubMed: Li 2005 - - Germline/De novo (untested) - - - - - DNA SEQ - - ALXDRD Pat6 PubMed: Li 2005 - M - United States - - - - - 1 Johan den Dunnen
+/. 1 c.235C>T r.(?) p.(Arg79Cys) Unknown - pathogenic (dominant) g.42992620G>A g.44915252G>A - - GFAP_000081 - PubMed: Li 2005 - - Germline/De novo (untested) - - - - - DNA SEQ - - ALXDRD Pat7 PubMed: Li 2005 - F - United States - 6y11m - - - 1 Johan den Dunnen
+/. 1 c.235C>T r.(?) p.(Arg79Cys) Unknown - pathogenic (dominant) g.42992620G>A g.44915252G>A - - GFAP_000081 - PubMed: Li 2005 - - Germline/De novo (untested) - - - - - DNA SEQ - - ALXDRD Pat8 PubMed: Li 2005 - F - United States - - - - - 1 Johan den Dunnen
+/. 1 c.236G>A r.(?) p.(Arg79His) Unknown ACMG pathogenic (dominant) g.42992619C>T g.44915251C>T - - GFAP_000092 - - ClinVar-16170 rs59285727 De novo - - - - - DNA SEQ-NG-I peripheral blood CES ? - - - M - - (not applicable) white - - - - 1 Marketa Wayhelova
+/. 1 c.236G>A r.(?) p.(Arg79His) Unknown - pathogenic (dominant) g.42992619C>T g.44915251C>T 250G>A R79H - GFAP_000092 - PubMed: Rodriguez 2001 - - De novo - - - - - DNA SEQ, SEQ-NG - - ALXDRD Pat3 PubMed: Rodriguez 2001 2-generation family, 1 affected, unaffected non carrier parents - - France - - - - - 1 Johan den Dunnen
+/. 1 c.236G>A r.(?) p.(Arg79His) Unknown - pathogenic (dominant) g.42992619C>T g.44915251C>T 250G>A R79H - GFAP_000092 - PubMed: Rodriguez 2001 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ALXDRD Pat4 PubMed: Rodriguez 2001 - - - France - - - - - 1 Johan den Dunnen
+/. 1 c.236G>A r.(?) p.(Arg79His) Unknown - pathogenic (dominant) g.42992619C>T g.44915251C>T 250G>A R79H - GFAP_000092 - PubMed: Rodriguez 2001 - - De novo - - - - - DNA SEQ, SEQ-NG - - ALXDRD Pat5 PubMed: Rodriguez 2001 2-generation family, 1 affected, unaffected non carrier parents - - France - - - - - 1 Johan den Dunnen
+/. 1 c.236G>A r.(?) p.(Arg79His) Unknown - pathogenic (dominant) g.42992619C>T g.44915251C>T 250G>A R79H - GFAP_000092 - PubMed: Rodriguez 2001 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ALXDRD Pat6 PubMed: Rodriguez 2001 - - - France - - - - - 1 Johan den Dunnen
+/. - c.236G>A r.(?) p.(Arg79His) Unknown - pathogenic (dominant) g.42992619C>T g.44915251C>T 250G>A - GFAP_000092 - PubMed: Asahina 2006 - - Germline/De novo (untested) - - - - - DNA SEQ - - ALXDRD patient PubMed: Asahina 2006 - M - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.236G>A r.(?) p.(Arg79His) Unknown - pathogenic (dominant) g.42992619C>T g.44915251C>T 250G>A R79H - GFAP_000092 - PubMed: Brenner 2001 - - Germline/De novo (untested) - - - - - DNA SEQ - - ALXDRD Pat2 PubMed: Brenner 2001 - F - United States - 48y - - - 1 Johan den Dunnen
+/. - c.236G>T r.(?) p.(Arg79Leu) Unknown - pathogenic g.42992619C>A g.44915251C>A GFAP(NM_002055.5):c.236G>T (p.R79L) - GFAP_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.242C>A r.(?) p.(Ala81Asp) Unknown ACMG pathogenic (dominant) g.42992613G>T g.44915245G>T - - GFAP_000072 ACMG PS2, PM1, PM2, PP2, PP3 PubMed: Marinakis 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 7014 PubMed: Marinakis 2021 - M - Greece - - - - - 1 Jan Traeger-Synodinos
-?/. - c.243C>T r.(?) p.(Ala81=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.252C>G r.(?) p.(Ile84Met) Unknown - likely pathogenic g.42992603G>C - - - GFAP_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.252C>T r.(?) p.(Ile84=) Unknown - likely benign g.42992603G>A - GFAP(NM_002055.4):c.252C>T (p.I84=) - GFAP_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.259G>A r.(?) p.(Val87Ile) Unknown - VUS g.42992596C>T g.44915228C>T - - GFAP_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.259G>C r.(?) p.(Val87Leu) Unknown - pathogenic g.42992596C>G g.44915228C>G - - GFAP_000091 - PubMed: Salinas 2020 VCV000066477.1 - Unknown - - - - - DNA SEQ-NG - gene panel ? Pat16 PubMed: Salinas 2020 patient M - - - - - - - 1 Johan den Dunnen
+/. 1 c.262C>A r.(?) p.(Arg88Ser) Unknown - pathogenic (dominant) g.42992593G>T g.44915225G>T 276C>A R88S* - GFAP_000122 - PubMed: Rodriguez 2001 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ALXDRD Pat9 PubMed: Rodriguez 2001 … - - France - - - - - 1 Johan den Dunnen
+/. - c.262C>T r.(?) p.(Arg88Cys) Unknown - pathogenic g.42992593G>A - GFAP(NM_002055.5):c.262C>T (p.R88C) - GFAP_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.262C>T r.(?) p.(Arg88Cys) Unknown - pathogenic g.42992593G>A g.44915225G>A - - GFAP_000045 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-3908 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. 1 c.262C>T r.(?) p.(Arg88Cys) Unknown - pathogenic (dominant) g.42992593G>A g.44915225G>A 276C>T R88C* - GFAP_000045 - PubMed: Rodriguez 2001 - - De novo - - - - - DNA SEQ, SEQ-NG - - ALXDRD Pat7 PubMed: Rodriguez 2001 2-generation family, 1 affected, unaffected non carrier parents - - France - - - - - 1 Johan den Dunnen
+/. 1 c.262C>T r.(?) p.(Arg88Cys) Unknown - pathogenic (dominant) g.42992593G>A g.44915225G>A 276C>T R88C* - GFAP_000045 - PubMed: Rodriguez 2001 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ALXDRD Pat8 PubMed: Rodriguez 2001 - - - France - - - - - 1 Johan den Dunnen
+/. 1 c.262C>T r.(?) p.(Arg88Cys) Unknown - pathogenic (dominant) g.42992593G>A g.44915225G>A - - GFAP_000045 - PubMed: Li 2005 - - Germline/De novo (untested) - - - - - DNA SEQ - - ALXDRD Pat9 PubMed: Li 2005 - M - Netherlands - - - - - 1 Johan den Dunnen
?/. - c.263G>A r.(?) p.(Arg88His) Unknown - VUS g.42992592C>T - GFAP(NM_002055.5):c.263G>A (p.R88H) - GFAP_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.287C>T r.(?) p.(Ala96Val) Unknown - likely benign g.42992568G>A g.44915200G>A GFAP(NM_002055.4):c.287C>T (p.A96V) - GFAP_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.290T>C r.(?) p.(Leu97Pro) Unknown - pathogenic (dominant) g.42992565A>G g.44915197A>G - - GFAP_000121 - PubMed: Li 2005 - - Germline/De novo (untested) - - - - - DNA SEQ - - ALXDRD Pat10 PubMed: Li 2005 - M - United States - 6y5m - - - 1 Johan den Dunnen
?/. - c.313C>T r.(?) p.(Arg105Trp) Unknown - 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(NM_002055.5):c.313C>T (p.R105W) - GFAP_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.313C>T r.(?) p.(Arg105Trp) Unknown - 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(NM_002055.5):c.313C>T (p.R105W) - GFAP_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.313C>T r.(?) p.(Arg105Trp) Unknown - likely benign 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(NM_002055.5):c.313C>T (p.R105W) - GFAP_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.329C>G r.(?) p.(Thr110Ser) Unknown - likely benign g.42992526G>C g.44915158G>C GFAP(NM_002055.4):c.329C>G (p.T110S), GFAP(NM_002055.5):c.329C>G (p.T110S) - GFAP_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.329C>G r.(?) p.(Thr110Ser) Unknown - likely benign g.42992526G>C g.44915158G>C GFAP(NM_002055.4):c.329C>G (p.T110S), GFAP(NM_002055.5):c.329C>G (p.T110S) - GFAP_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1 c.343G>A r.(?) p.(Val115Ile) Paternal (confirmed) - likely benign g.42992512C>T g.44915144C>T 343G>T - GFAP_000093 - PubMed: Li 2005 - - Germline - - - - - DNA SEQ - - ALXDRD Pat42 PubMed: Li 2005 - M - Netherlands - 8m - - - 1 Johan den Dunnen
-?/. 1 c.343G>A r.(?) p.(Val115Ile) Parent #1 - likely benign g.42992512C>T g.44915144C>T - - GFAP_000093 - PubMed: Li 2005 - - Germline no 1/76 chromosomes - - - DNA SEQ - - ALXDRD Pat42 PubMed: Li 2005 - M - Netherlands - 8m - - - 1 Johan den Dunnen
?/. - c.352G>A r.(?) p.(Ala118Thr) Unknown - VUS g.42992503C>T - GFAP(NM_002055.5):c.352G>A (p.(Ala118Thr)) - GFAP_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.362G>A r.(?) p.(Arg121Gln) Unknown - VUS g.42992493C>T g.44915125C>T - - GFAP_000060 - PubMed: Ganapathy 2019 - rs769619261 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-5688 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.370C>A r.(?) p.(Arg124=) Unknown - VUS g.42992485G>T g.44915117G>T GFAP(NM_001131019.2):c.370C>A (p.(=)) - GFAP_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381C>T r.(?) p.(Leu127=) Unknown - likely benign g.42992474G>A g.44915106G>A GFAP(NM_001363846.1):c.381C>T (p.L127=) - GFAP_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.388C>G r.(?) p.(Leu130Val) Unknown - VUS g.42992467G>C - GFAP(NM_002055.5):c.388C>G (p.(Leu130Val), p.L130V) - GFAP_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.388C>G r.(?) p.(Leu130Val) Unknown - likely benign g.42992467G>C - GFAP(NM_002055.5):c.388C>G (p.(Leu130Val), p.L130V) - GFAP_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.394G>A r.(?) p.(Ala132Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.406C>T r.(?) p.(Arg136Trp) Unknown - VUS g.42992449G>A - GFAP(NM_001131019.2):c.406C>T (p.(Arg136Trp)), GFAP(NM_002055.5):c.406C>T (p.R136W) - GFAP_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.406C>T r.(?) p.(Arg136Trp) Unknown - VUS g.42992449G>A - GFAP(NM_001131019.2):c.406C>T (p.(Arg136Trp)), GFAP(NM_002055.5):c.406C>T (p.R136W) - GFAP_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.420G>A r.(?) p.(Glu140=) Unknown - likely benign g.42992435C>T - GFAP(NM_001131019.2):c.420G>A (p.(=)) - GFAP_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.461+9G>A r.(=) p.(=) Unknown - likely benign g.42992385C>T - GFAP(NM_001363846.1):c.461+9G>A - GFAP_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.462-8dup r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.462-8dup r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.469G>A r.(?) p.(Asp157Asn) Unknown - likely benign g.42991449C>T g.44914081C>T GFAP(NM_001131019.2):c.469G>A (p.(Asp157Asn)) - GFAP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.469G>A r.(?) p.(Asp157Asn) Unknown - benign g.42991449C>T g.44914081C>T GFAP(NM_001131019.2):c.469G>A (p.(Asp157Asn)) - GFAP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.469G>A r.(?) p.(Asp157Asn) Parent #1 - likely benign g.42991449C>T g.44914081C>T - - GFAP_000014 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs59291670 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-?/. 2 c.469G>A r.(?) p.(Asp157Asn) Parent #1 - likely benign g.42991449C>T .44914081C>T - - GFAP_000014 variant also found in 5 controls PubMed: Li 2005 - - Germline no 1/76 chromosomes - - - DNA SEQ - - ALXDRD Pat35 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents M - Netherlands - 4m - - - 1 Johan den Dunnen
?/. - c.485G>A r.(?) p.(Arg162Lys) Unknown - VUS g.42991433C>T g.44914065C>T GFAP(NM_002055.4):c.485G>A (p.(Arg162Lys)) - GFAP_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.496G>A r.(?) p.(Glu166Lys) Unknown - VUS g.42991422C>T - GFAP(NM_002055.4):c.496G>A (p.(Glu166Lys)) - GFAP_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.521A>T r.(?) p.(Gln174Leu) Unknown - VUS g.42991397T>A - GFAP(NM_001131019.2):c.521A>T (p.(Gln174Leu)) - GFAP_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.522+4A>T r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.522+8A>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.522+14A>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.522+19A>T r.(=) p.(=) Unknown - likely benign g.42991377T>A g.44914009T>A GFAP(NM_001131019.2):c.522+19A>T (p.(=)) - GFAP_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.523-18C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.523-11T>C r.(=) p.(=) Unknown - likely benign g.42991202A>G - GFAP(NM_001131019.2):c.523-11T>C (p.(=)) - GFAP_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.548G>A r.(?) p.(Arg183His) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. 3i c.619-12C>T r.(?) p.(=) Parent #1 - benign g.42990810G>A g.44913442G>A IVS3-12C>T - GFAP_000094 - PubMed: Li 2005 - - Germline no 6/76 chromosomes - - - DNA SEQ - - ALXDRD Pat9 PubMed: Li 2005 - M - Netherlands - - - - - 1 Johan den Dunnen
-?/. - c.619-9C>G r.(=) p.(=) Unknown - likely benign g.42990807G>C - GFAP(NM_001131019.2):c.619-9C>G (p.(=)) - GFAP_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.619G>A r.(?) p.(Glu207Lys) Unknown - pathogenic (dominant) g.42990798C>T g.44913430C>T - - GFAP_000119 - PubMed: Li 2005 - - De novo - - - - - DNA SEQ - - ALXDRD Pat11 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents M - Netherlands - - - - - 1 Johan den Dunnen
+/. 4 c.619G>C r.(?) p.(Glu207Gln) Unknown - pathogenic (dominant) g.42990798C>G g.44913430C>G - - GFAP_000120 - PubMed: Li 2005 - - De novo - - - - - DNA SEQ - - ALXDRD Pat12 PubMed: Li 2005 2-generation family, 1 affected, unaffected non carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. 4 c.628G>A r.(?) p.(Glu210Lys) Unknown - pathogenic (dominant) g.42990789C>T g.44913421C>T - - GFAP_000118 - PubMed: Li 2005 - - Germline/De novo (untested) - - - - - DNA SEQ - - ALXDRD Pat13 PubMed: Li 2005 - F - United States - 33y - - - 1 Johan den Dunnen
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