Related gene-specific medical variations for Gene (Select 2670) - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362276	NM_002055.5(GFAP):c.646G>A (p.Ala216Thr)	GFAP (A216T)	Single nucleotide variant (missense variant)	Alexander disease	GPathogenic
Select item 3361680	NM_002055.5(GFAP):c.545C>A (p.Ala182Asp)	GFAP (A182D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360615	NM_002055.5(GFAP):c.750G>A (p.Met250Ile)	GFAP (M250I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359749	NM_002055.5(GFAP):c.824T>G (p.Leu275Arg)	GFAP (L275R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359109	NM_002055.5(GFAP):c.1106T>C (p.Leu369Pro)	GFAP (L369P)	Single nucleotide variant (missense variant)	Alexander disease	GPathogenic
Select item 3341738	NM_001258400.2(FAM187A):c.1116T>G (p.Pro372=)	CCDC103, FAM187A +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3099432	NM_002055.5(GFAP):c.1102A>C (p.Lys368Gln)	GFAP, LOC130060994 (K368Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2636929	NM_002055.5(GFAP):c.1078G>T (p.Asp360Tyr)	GFAP, LOC130060994 (D360Y)	Single nucleotide variant (missense variant)	GFAP-related disorder	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 2102429	NM_002055.5(GFAP):c.1087A>T (p.Ile363Phe)	GFAP, LOC130060994 (I363F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2024417	NM_002055.5(GFAP):c.1127G>A (p.Arg376Gln)	GFAP, LOC130060994 (R376Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723298	NM_002055.5(GFAP):c.1127+2T>A	GFAP, LOC130060994	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 1720685	NM_002055.5(GFAP):c.1089C>G (p.Ile363Met)	GFAP, LOC130060994 (I363M)	Single nucleotide variant (missense variant)	not provided	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 1306407	NM_002055.5(GFAP):c.1115G>A (p.Gly372Asp)	GFAP, LOC130060994 (G372D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256094	NM_002055.5(GFAP):c.847_849del (p.Asn283del)	GFAP (N283del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1199219	NM_002055.5(GFAP):c.1111G>A (p.Glu371Lys)	GFAP, LOC130060994 (E371K)	Single nucleotide variant (missense variant)	Alexander disease +1 more	GConflicting classifications of pathogenicity
Select item 1181888	NM_002055.5(GFAP):c.907-98C>G	GFAP, LOC130060995	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178109	NM_002055.5(GFAP):c.1127+39_1127+41del	GFAP, LOC130060994	Microsatellite (intron variant)	not provided	GBenign
Select item 1077122	NM_002055.5(GFAP):c.1109T>C (p.Leu370Pro)	GFAP, LOC130060994 (L370P)	Single nucleotide variant (missense variant)	Progressive ventriculomegaly	GLikely pathogenic
Select item 994617	NM_002055.5(GFAP):c.906+9G>C	GFAP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 987473	NM_002055.5(GFAP):c.1240del (p.Glu414fs)	GFAP (E414fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 983394	NM_002055.5(GFAP):c.882C>A (p.Cys294Ter)	GFAP (C294*)	Single nucleotide variant (nonsense)	Seizure +1 more	GUncertain significance
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 891213	NM_213607.3(CCDC103):c.*784C>A	CCDC103, FAM187A +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 17	GUncertain significance
Select item 891212	NM_213607.3(CCDC103):c.*739T>C	CCDC103, FAM187A +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 17	GUncertain significance
Select item 891211	NM_213607.3(CCDC103):c.*584G>A	CCDC103, GFAP	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 17	GUncertain significance
Select item 758810	NM_002055.5(GFAP):c.1071G>A (p.Leu357=)	GFAP, LOC130060994	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749685	NM_002055.5(GFAP):c.1127+10C>A	GFAP, LOC130060994	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 558829	NM_002055.5(GFAP):c.1105C>G (p.Leu369Val)	GFAP, LOC130060994 (L369V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 425134	NM_002055.5(GFAP):c.936G>A (p.Glu312=)	GFAP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 376830	NM_002055.5(GFAP):c.590T>A (p.Ile197Asn)	GFAP (I197N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 323593	NM_213607.3(CCDC103):c.*821G>A	GFAP, CCDC103 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 17	GUncertain significance
Select item 323592	NM_213607.3(CCDC103):c.*795G>A	CCDC103, FAM187A +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 17	GUncertain significance
Select item 323591	NM_213607.3(CCDC103):c.*789C>T	CCDC103, FAM187A +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 323590	NM_213607.3(CCDC103):c.*789C>A	CCDC103, FAM187A +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 17	GUncertain significance
Select item 323589	NM_213607.3(CCDC103):c.*787C>T	CCDC103, FAM187A +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 17	GUncertain significance
Select item 323588	NM_213607.3(CCDC103):c.*733C>T	GFAP, CCDC103 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 17	GUncertain significance
Select item 323587	NM_213607.3(CCDC103):c.*685C>T	CCDC103, FAM187A +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 17 +1 more	GUncertain significance
Select item 190369	NP_002046.1:p.Phe261_Thr302del	GFAP	Deletion	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 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 66513	NM_002055.5(GFAP):c.988C>G (p.Arg330Gly)	GFAP (R330G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66511	NM_002055.5(GFAP):c.907-100A>C	GFAP, LOC130060995	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 66506	NM_002055.5(GFAP):c.780+646G>A	GFAP	Single nucleotide variant (intron variant)	not provided	Gnot provided
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 66495	NM_002055.5(GFAP):c.704T>C (p.Leu235Pro)	GFAP (L235P)	Single nucleotide variant (missense variant)	not provided +1 more	Gnot provided
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 66487	NM_002055.5(GFAP):c.523-9C>G	GFAP	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 66486	NM_002055.5(GFAP):c.523-76G>C	GFAP	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 66483	NM_002055.5(GFAP):c.343G>T (p.Val115Phe)	GFAP (V115F)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66480	NM_002055.5(GFAP):c.290T>C (p.Leu97Pro)	GFAP (L97P)	Single nucleotide variant (missense variant)	not provided +1 more	Gnot provided
Select item 66476	NM_002055.5(GFAP):c.257A>G (p.Lys86Arg)	GFAP (K86R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66474	NM_002055.5(GFAP):c.248A>C (p.Tyr83Ser)	GFAP (Y83S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66466	NM_002055.5(GFAP):c.221T>C (p.Met74Thr)	GFAP (M74T)	Single nucleotide variant (missense variant)	Alexander disease +1 more	Gnot provided
Select item 66462	NM_002055.5(GFAP):c.211G>A (p.Ala71Thr)	GFAP (A71T)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66452	NM_002055.5(GFAP):c.1178G>T (p.Ser393Ile)	GFAP (S393I +1 more)	Single nucleotide variant (missense variant)	Alexander disease +1 more	Gnot provided
Select item 66451	NM_002055.5(GFAP):c.1172-306A>G	GFAP	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 66443	NM_002055.5(GFAP):c.1126C>T (p.Arg376Trp)	GFAP, LOC130060994 (R376W)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 66442	NM_002055.5(GFAP):c.1126C>G (p.Arg376Gly)	GFAP, LOC130060994 (R376G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 66441	NM_002055.5(GFAP):c.1121A>G (p.Glu374Gly)	GFAP, LOC130060994 (E374G)	Single nucleotide variant (missense variant)	Alexander disease +1 more	Gnot provided
Select item 66440	NM_002055.5(GFAP):c.1117G>C (p.Glu373Gln)	GFAP, LOC130060994 (E373Q)	Single nucleotide variant (missense variant)	not provided +1 more	Gnot provided
Select item 66439	NM_002055.5(GFAP):c.1117G>A (p.Glu373Lys)	GFAP, LOC130060994 (E373K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 66438	NM_002055.5(GFAP):c.1112A>T (p.Glu371Val)	GFAP, LOC130060994 (E371V)	Single nucleotide variant (missense variant)	not provided +1 more	Gnot provided
Select item 66437	NM_002055.5(GFAP):c.1112A>G (p.Glu371Gly)	GFAP, LOC130060994 (E371G)	Single nucleotide variant (missense variant)	not provided +1 more	Gnot provided
Select item 66436	NM_002055.5(GFAP):c.1111G>C (p.Glu371Gln)	GFAP, LOC130060994 (E371Q)	Single nucleotide variant (missense variant)	Alexander disease +1 more	Gnot provided
Select item 66435	NM_002055.5(GFAP):c.1097A>G (p.Tyr366Cys)	GFAP, LOC130060994 (Y366C)	Single nucleotide variant (missense variant)	Alexander disease +1 more	Gnot provided
Select item 66434	NM_002055.5(GFAP):c.1096T>C (p.Tyr366His)	GFAP, LOC130060994 (Y366H)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 66433	NM_002055.5(GFAP):c.1091C>T (p.Ala364Val)	GFAP, LOC130060994 (A364V)	Single nucleotide variant (missense variant)	Alexander disease +1 more	Gnot provided
Select item 66432	NM_002055.5(GFAP):c.1090G>C (p.Ala364Pro)	GFAP, LOC130060994 (A364P)	Single nucleotide variant (missense variant)	Alexander disease +1 more	Gnot provided
Select item 66431	NM_002055.5(GFAP):c.1079A>T (p.Asp360Val)	GFAP, LOC130060994 (D360V)	Single nucleotide variant (missense variant)	Alexander disease	GPathogenic
Select item 66430	NM_002055.5(GFAP):c.1076T>C (p.Leu359Pro)	GFAP, LOC130060994 (L359P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 66429	NM_002055.5(GFAP):c.1075C>G (p.Leu359Val)	GFAP, LOC130060994 (L359V)	Single nucleotide variant (missense variant)	Alexander disease +1 more	Gnot provided
Select item 66428	NM_002055.5(GFAP):c.1070T>C (p.Leu357Pro)	GFAP, LOC130060994 (L357P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 66427	NM_002055.4(GFAP):c.-518T>A	GFAP	Single nucleotide variant	not provided	Gnot provided
Select item 66425	NM_002055.5(GFAP):c.*32C>G	GFAP	Single nucleotide variant (3 prime UTR variant)	not provided	Gnot provided
Select item 16176	NM_002055.5(GFAP):c.1086G>C (p.Glu362Asp)	GFAP, LOC130060994 (E362D)	Single nucleotide variant (missense variant)	Alexander disease	GPathogenic

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Items: 87