ClinVar for MedGen (Select 78724) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234940	NM_002055.5(GFAP):c.621G>T (p.Glu207Asp)	GFAP (E207D)	Single nucleotide variant (missense variant)	Alexander disease	GLikely pathogenic
Select item 3066224	NM_002055.5(GFAP):c.913T>C (p.Ser305Pro)	GFAP (S305P)	Single nucleotide variant (missense variant)	Alexander disease	GUncertain significance
Select item 3064728	NM_002055.5(GFAP):c.1127+5G>A	GFAP, LOC130060994	Single nucleotide variant (intron variant)	Alexander disease	GUncertain significance
Select item 3024231	NM_002055.5(GFAP):c.227T>C (p.Leu76Pro)	GFAP (L76P)	Single nucleotide variant (missense variant)	Alexander disease	GLikely pathogenic
Select item 2432112	NM_002055.5(GFAP):c.719C>T (p.Thr240Met)	GFAP (T240M)	Single nucleotide variant (missense variant)	Alexander disease	GUncertain significance
Select item 2432111	NM_002055.5(GFAP):c.625C>G (p.Arg209Gly)	GFAP (R209G)	Single nucleotide variant (missense variant)	Alexander disease	GUncertain significance
Select item 2148298	NM_002055.5(GFAP):c.287C>T (p.Ala96Val)	GFAP (A96V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1805327	NM_002055.5(GFAP):c.371G>A (p.Arg124Gln)	GFAP (R124Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1805302	NM_002055.5(GFAP):c.476C>T (p.Thr159Ile)	GFAP (T159I)	Single nucleotide variant (missense variant)	Alexander disease	GUncertain significance
Select item 1805176	NM_002055.5(GFAP):c.1030C>G (p.Arg344Gly)	GFAP (R344G)	Single nucleotide variant (missense variant)	Alexander disease	GUncertain significance
Select item 1801329	NM_002055.5(GFAP):c.368T>C (p.Leu123Pro)	GFAP (L123P)	Single nucleotide variant (missense variant)	Alexander disease	GLikely pathogenic
Select item 1709470	NM_002055.5(GFAP):c.145C>T (p.Arg49Trp)	GFAP (R49W)	Single nucleotide variant (missense variant)	Alexander disease +1 more	GUncertain significance
Select item 1685846	NM_002055.5(GFAP):c.1087A>G (p.Ile363Val)	GFAP, LOC130060994 (I363V)	Single nucleotide variant (missense variant)	Alexander disease	GPathogenic
Select item 1437165	NM_002055.5(GFAP):c.362G>A (p.Arg121Gln)	GFAP (R121Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1433697	NM_002055.5(GFAP):c.760G>A (p.Glu254Lys)	GFAP (E254K)	Single nucleotide variant (missense variant)	Alexander disease +1 more	GUncertain significance
Select item 1303771	NM_002055.5(GFAP):c.504C>A (p.Asn168Lys)	GFAP (N168K)	Single nucleotide variant (missense variant)	Alexander disease +1 more	GUncertain significance
Select item 1299244	NM_002055.5(GFAP):c.706A>G (p.Lys236Glu)	GFAP (K236E)	Single nucleotide variant (missense variant)	Alexander disease	GLikely pathogenic
Select item 1199219	NM_002055.5(GFAP):c.1111G>A (p.Glu371Lys)	GFAP, LOC130060994 (E371K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1173085	NM_002055.5(GFAP):c.217A>G (p.Met73Val)	GFAP (M73V)	Single nucleotide variant (missense variant)	Alexander disease	GPathogenic
Select item 1064519	NM_002055.5(GFAP):c.793A>G (p.Thr265Ala)	GFAP (T265A)	Single nucleotide variant (missense variant)	Alexander disease	GUncertain significance
Select item 1032795	NM_002055.5(GFAP):c.697G>A (p.Ala233Thr)	GFAP (A233T)	Single nucleotide variant (missense variant)	Alexander disease	GUncertain significance
Select item 1029407	NM_002055.5(GFAP):c.462-2A>G	GFAP	Single nucleotide variant (splice acceptor variant)	Alexander disease	GUncertain significance
Select item 931895	NM_002055.5(GFAP):c.1171+472G>C	GFAP (R430P)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 930563	NM_002055.5(GFAP):c.1171+144T>C	GFAP	Single nucleotide variant (stop lost +1 more)	Alexander disease	GUncertain significance
Select item 917886	NM_002055.5(GFAP):c.858G>C (p.Arg286=)	GFAP	Single nucleotide variant (synonymous variant)	Alexander disease	GLikely benign
Select item 808282	NM_002055.5(GFAP):c.488T>C (p.Leu163Pro)	GFAP (L163P)	Single nucleotide variant (missense variant)	Alexander disease +1 more	GUncertain significance
Select item 805942	NM_002055.5(GFAP):c.1171+473C>A	GFAP	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 803429	NM_002055.5(GFAP):c.1235C>T (p.Thr412Ile)	GFAP (T412I +1 more)	Single nucleotide variant (missense variant)	Alexander disease	GLikely pathogenic
Select item 637027	NM_002055.5(GFAP):c.242C>A (p.Ala81Asp)	GFAP (A81D)	Single nucleotide variant (missense variant)	Alexander disease	GPathogenic
Select item 590968	NM_002055.5(GFAP):c.1125C>G (p.Asn375Lys)	GFAP, LOC130060994 (N375K)	Single nucleotide variant (missense variant)	Alexander disease	GLikely pathogenic
Select item 548570	NM_002055.5(GFAP):c.930G>A (p.Met310Ile)	GFAP (M310I)	Single nucleotide variant (missense variant)	Alexander disease	GUncertain significance
Select item 522797	NM_002055.5(GFAP):c.989G>C (p.Arg330Pro)	GFAP (R330P)	Single nucleotide variant (missense variant)	Alexander disease	GUncertain significance
Select item 432046	NM_002055.5(GFAP):c.252C>G (p.Ile84Met)	GFAP (I84M)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 425136	NM_002055.5(GFAP):c.893C>T (p.Ser298Phe)	GFAP (S298F)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 374303	NM_002055.5(GFAP):c.215A>G (p.Glu72Gly)	GFAP (E72G)	Single nucleotide variant (missense variant)	Alexander disease	GLikely pathogenic
Select item 323626	NM_002055.5(GFAP):c.313C>T (p.Arg105Trp)	GFAP (R105W)	Single nucleotide variant (missense variant)	Alexander disease +2 more	GBenign/Likely benign
Select item 323625	NM_002055.5(GFAP):c.329C>G (p.Thr110Ser)	GFAP (T110S)	Single nucleotide variant (missense variant)	Alexander disease +1 more	GConflicting classifications of pathogenicity
Select item 323622	NM_002055.5(GFAP):c.381C>T (p.Leu127=)	GFAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 323620	NM_002055.5(GFAP):c.462-8dup	GFAP	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 323611	NM_002055.5(GFAP):c.957G>A (p.Arg319=)	GFAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 323610	NM_002055.5(GFAP):c.1171+5G>A	GFAP	Single nucleotide variant (synonymous variant +1 more)	Alexander disease	GUncertain significance
Select item 323608	NM_002055.5(GFAP):c.*16G>A	GFAP	Single nucleotide variant (3 prime UTR variant)	Alexander disease +1 more	GBenign/Likely benign
Select item 225373	NM_002055.5(GFAP):c.1171+420C>T	GFAP (R413*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 190369	NP_002046.1:p.Phe261_Thr302del	GFAP	Deletion	Alexander disease	GPathogenic
Select item 190368	NM_002055.5(GFAP):c.619-3C>G	GFAP	Single nucleotide variant (intron variant)	Alexander disease	Gnot provided
Select item 190367	NM_002055.5(GFAP):c.1171+472G>A	GFAP (R430H)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 190366	NM_002055.5(GFAP):c.1171+475_1171+482delinsATC	GFAP (G431fs)	Indel (frameshift variant +3 more)	Alexander disease	GPathogenic
Select item 190365	NM_002055.5(GFAP):c.1249del (p.Asp417fs)	GFAP (D457fs +1 more)	Deletion (frameshift variant)	Alexander disease	Gnot provided
Select item 190364	NP_002046.1(GFAP):p.Met415Ile	GFAP	Protein only	Alexander disease	GPathogenic
Select item 190363	NM_002055.5(GFAP):c.1193C>T (p.Ser398Phe)	GFAP (S398F +1 more)	Single nucleotide variant (missense variant)	Alexander disease	GPathogenic
Select item 190362	NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys)	GFAP (S385C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 190361	NM_002055.5(GFAP):c.1154C>T (p.Ser385Phe)	GFAP (S385F)	Single nucleotide variant (missense variant)	Alexander disease	Gnot provided
Select item 190360	NM_002055.5(GFAP):c.1118A>C (p.Glu373Ala)	GFAP, LOC130060994 (E373A)	Single nucleotide variant (missense variant)	Alexander disease	Gnot provided
Select item 190359	NP_002046.1(GFAP):p.Glu373Asp	GFAP	Protein only	Alexander disease	GPathogenic
Select item 190358	NM_002055.5(GFAP):c.1090G>A (p.Ala364Thr)	GFAP, LOC130060994 (A364T)	Single nucleotide variant (missense variant)	Alexander disease	Gnot provided
Select item 190357	NM_002055.5(GFAP):c.1085A>G (p.Glu362Gly)	GFAP, LOC130060994 (E362G)	Single nucleotide variant (missense variant)	Alexander disease	GPathogenic
Select item 190356	NM_002055.5(GFAP):c.1074C>G (p.Ala358=)	GFAP, LOC130060994	Single nucleotide variant (synonymous variant)	Alexander disease	Gnot provided
Select item 190355	NM_002055.5(GFAP):c.1073C>T (p.Ala358Val)	GFAP, LOC130060994 (A358V)	Single nucleotide variant (missense variant)	Alexander disease	Gnot provided
Select item 190354	NM_002055.5(GFAP):c.1051G>C (p.Asp351His)	GFAP (D351H)	Single nucleotide variant (missense variant)	Alexander disease	Gnot provided
Select item 190353	NM_002055.5(GFAP):c.1049_1050insCTTGCA (p.Tyr349_Gln350insHisLeu)	GFAP	Insertion (inframe_insertion)	Alexander disease	Gnot provided
Select item 190352	NM_002055.4(GFAP):c.[988C>G;994G>A]	GFAP (R330G +1 more)	Single nucleotide variant (missense variant)	Alexander disease	GPathogenic
Select item 190351	NM_002055.5(GFAP):c.934G>T (p.Glu312Ter)	GFAP (E312*)	Single nucleotide variant (nonsense)	Alexander disease	GUncertain significance
Select item 190350	NM_002055.5(GFAP):c.868C>G (p.Gln290Glu)	GFAP (Q290E)	Single nucleotide variant (missense variant)	Alexander disease	Gnot provided
Select item 190349	NM_002055.5(GFAP):c.803C>A (p.Ala268Asp)	GFAP (A268D)	Single nucleotide variant (missense variant)	Alexander disease	GPathogenic
Select item 190348	NM_002055.5(GFAP):c.799G>C (p.Ala267Pro)	GFAP (A267P)	Single nucleotide variant (missense variant)	Alexander disease	Gnot provided
Select item 190347	NM_002055.5(GFAP):c.791_792delinsCT (p.Leu264Pro)	GFAP (L264P)	Indel (missense variant)	Alexander disease	Gnot provided
Select item 190346	NM_002055.5(GFAP):c.791T>C (p.Leu264Pro)	GFAP (L264P)	Single nucleotide variant (missense variant)	Alexander disease	GPathogenic
Select item 190345	NM_002055.5(GFAP):c.772C>T (p.Arg258Cys)	GFAP (R258C)	Single nucleotide variant (missense variant)	Alexander disease +1 more	GPathogenic
Select item 190344	NM_002055.5(GFAP):c.715C>G (p.Arg239Gly)	GFAP (R239G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 190343	NM_002055.5(GFAP):c.692T>A (p.Leu231His)	GFAP (L231H)	Single nucleotide variant (missense variant)	Alexander disease	Gnot provided
Select item 190342	NM_002055.5(GFAP):c.369GCGGCT[3] (p.124RL[3])	GFAP	Microsatellite (inframe_insertion)	Alexander disease	Gnot provided
Select item 190341	NM_002055.5(GFAP):c.365_373dup (p.Arg124_Leu125insGlnLeuArg)	GFAP	Duplication (inframe_insertion)	Alexander disease	Gnot provided
Select item 190340	NM_002055.5(GFAP):c.278A>C (p.Gln93Pro)	GFAP (Q93P)	Single nucleotide variant (missense variant)	Alexander disease	Gnot provided
Select item 190339	NM_002055.5(GFAP):c.259G>A (p.Val87Ile)	GFAP (V87I)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 190338	NM_002055.5(GFAP):c.256A>G (p.Lys86Glu)	GFAP (K86E)	Single nucleotide variant (missense variant)	Alexander disease	Gnot provided
Select item 190337	NM_002055.5(GFAP):c.239T>C (p.Phe80Ser)	GFAP (F80S)	Single nucleotide variant (missense variant)	Alexander disease	Gnot provided
Select item 190336	NM_002055.4(GFAP):c.[236G>A;667G>C]	GFAP (R79H +1 more)	Single nucleotide variant (missense variant)	Alexander disease	GPathogenic
Select item 190335	NM_002055.5(GFAP):c.232G>A (p.Asp78Asn)	GFAP (D78N)	Single nucleotide variant (missense variant)	Alexander disease	Gnot provided
Select item 190334	NM_002055.5(GFAP):c.218T>C (p.Met73Thr)	GFAP (M73T)	Single nucleotide variant (missense variant)	Alexander disease	GPathogenic
Select item 190333	NM_002055.5(GFAP):c.205G>A (p.Glu69Lys)	GFAP (E69K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 190332	NM_002055.5(GFAP):c.197G>A (p.Arg66Gln)	GFAP (R66Q)	Single nucleotide variant (missense variant)	Alexander disease +1 more	GConflicting classifications of pathogenicity
Select item 66515	NM_002055.5(GFAP):c.994G>A (p.Glu332Lys)	GFAP (E332K)	Single nucleotide variant (missense variant)	Alexander disease	GPathogenic
Select item 66514	NM_002055.5(GFAP):c.992T>C (p.Leu331Pro)	GFAP (L331P)	Single nucleotide variant (missense variant)	Alexander disease +1 more	Gnot provided
Select item 66507	NM_002055.5(GFAP):c.835A>G (p.Lys279Glu)	GFAP (K279E)	Single nucleotide variant (missense variant)	not provided +1 more	Gnot provided
Select item 66505	NM_002055.5(GFAP):c.773G>C (p.Arg258Pro)	GFAP (R258P)	Single nucleotide variant (missense variant)	not provided +1 more	Gnot provided
Select item 66504	NM_002055.5(GFAP):c.770A>G (p.Tyr257Cys)	GFAP (Y257C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 66502	NM_002055.5(GFAP):c.758C>G (p.Ala253Gly)	GFAP (A253G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 66501	NM_002055.5(GFAP):c.739T>C (p.Ser247Pro)	GFAP (S247P)	Single nucleotide variant (missense variant)	not provided +1 more	Gnot provided
Select item 66500	NM_002055.5(GFAP):c.731C>T (p.Ala244Val)	GFAP (A244V)	Single nucleotide variant (missense variant)	not provided +1 more	Gnot provided
Select item 66499	NM_002055.5(GFAP):c.724T>G (p.Tyr242Asp)	GFAP (Y242D)	Single nucleotide variant (missense variant)	not provided +1 more	Gnot provided
Select item 66498	NM_002055.5(GFAP):c.716G>T (p.Arg239Leu)	GFAP (R239L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 66497	NM_002055.5(GFAP):c.716G>C (p.Arg239Pro)	GFAP (R239P)	Single nucleotide variant (missense variant)	not provided +1 more	Gnot provided
Select item 66496	NM_002055.5(GFAP):c.707A>C (p.Lys236Thr)	GFAP (K236T)	Single nucleotide variant (missense variant)	Alexander disease +1 more	Gnot provided
Select item 66495	NM_002055.5(GFAP):c.704T>C (p.Leu235Pro)	GFAP (L235P)	Single nucleotide variant (missense variant)	Alexander disease +1 more	Gnot provided
Select item 66494	NM_002055.5(GFAP):c.667G>C (p.Glu223Gln)	GFAP (E223Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 66493	NM_002055.5(GFAP):c.628G>A (p.Glu210Lys)	GFAP (E210K)	Single nucleotide variant (missense variant)	Alexander disease +1 more	Gnot provided
Select item 66492	NM_002055.5(GFAP):c.619G>C (p.Glu207Gln)	GFAP (E207Q)	Single nucleotide variant (missense variant)	not provided +1 more	Gnot provided
Select item 66491	NM_002055.5(GFAP):c.619G>A (p.Glu207Lys)	GFAP (E207K)	Single nucleotide variant (missense variant)	not provided +1 more	Gnot provided
Select item 66488	NM_002055.5(GFAP):c.613G>A (p.Glu205Lys)	GFAP (E205K)	Single nucleotide variant (missense variant)	Alexander disease +1 more	GConflicting classifications of pathogenicity
Select item 66484	NM_002055.5(GFAP):c.382G>A (p.Asp128Asn)	GFAP (D128N)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic

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