"GeneDx"[submitter] AND "GFAP"[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 60171	GRCh38/hg38 17q21.31(chr17:44906235-45220406)x3	ACBD4, C1QL1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 66424	NM_002055.5(GFAP):c.*28C>G	CCDC103, GFAP	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
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 66455	NM_002055.5(GFAP):c.1258-86C>T	GFAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249657	NM_002055.5(GFAP):c.1258-203C>T	GFAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261040	NM_002055.5(GFAP):c.1257+222T>G	GFAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1310513	NM_002055.5(GFAP):c.1252G>A (p.Gly418Arg)	GFAP (G418R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573917	NM_002055.5(GFAP):c.1245G>A (p.Met415Ile)	GFAP (M415I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1712750	NM_002055.5(GFAP):c.1235C>G (p.Thr412Ser)	GFAP (T412S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305148	NM_002055.5(GFAP):c.1220A>G (p.Asn407Ser)	GFAP (N407S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452662	NM_002055.5(GFAP):c.1220A>T (p.Asn407Ile)	GFAP (N407I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1331127	NM_002055.5(GFAP):c.1207C>T (p.His403Tyr)	GFAP (H403Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1230661	NM_002055.5(GFAP):c.1172-120C>T	GFAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235866	NM_002055.5(GFAP):c.1172-186_1172-185insGACTGGACAGAGCAGCCAGGACTTG	GFAP	Insertion (intron variant)	not provided	GBenign
Select item 1297222	NM_002055.5(GFAP):c.1172-187T>C	GFAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283808	NM_002055.5(GFAP):c.1172-255G>A	GFAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 66450	NM_002055.5(GFAP):c.1171+501C>A	GFAP	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3375676	NM_002055.5(GFAP):c.1171+475G>A	GFAP (G431D)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 805942	NM_002055.5(GFAP):c.1171+473C>A	GFAP	Single nucleotide variant (synonymous variant +2 more)	Alexander disease +1 more	GConflicting classifications of pathogenicity
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 1247262	NM_002055.5(GFAP):c.1171+460C>T	GFAP (T426M)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1164603	NM_002055.5(GFAP):c.1171+459A>G	GFAP (T426A)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1303976	NM_002055.5(GFAP):c.1168C>T (p.Arg390Ter)	GFAP (R390*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 66448	NM_002055.5(GFAP):c.1157A>T (p.Asn386Ile)	GFAP (N386I)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 190362	NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys)	GFAP (S385C)	Single nucleotide variant (missense variant)	Alexander disease +1 more	GPathogenic/Likely pathogenic
Select item 66445	NM_002055.5(GFAP):c.1128-66C>G	GFAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 66444	NM_002055.5(GFAP):c.1128-151C>T	GFAP	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 66443	NM_002055.5(GFAP):c.1126C>T (p.Arg376Trp)	GFAP, LOC130060994 (R376W)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 1306407	NM_002055.5(GFAP):c.1115G>A (p.Gly372Asp)	GFAP, LOC130060994 (G372D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1675270	NM_002055.5(GFAP):c.1036_1064del (p.Leu346fs)	GFAP (L346fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2574229	NM_002055.5(GFAP):c.1054C>G (p.Leu352Val)	GFAP (L352V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800967	NM_002055.5(GFAP):c.1048C>T (p.Gln350Ter)	GFAP (Q350*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1314391	NM_002055.5(GFAP):c.1046A>G (p.Tyr349Cys)	GFAP (Y349C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253538	NM_002055.5(GFAP):c.1034A>C (p.His345Pro)	GFAP (H345P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3340223	NM_002055.5(GFAP):c.1031G>A (p.Arg344His)	GFAP (R344H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342953	NM_002055.5(GFAP):c.1004G>T (p.Gly335Val)	GFAP (G335V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 265178	NM_002055.5(GFAP):c.1003G>A (p.Gly335Arg)	GFAP (G335R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3364180	NM_002055.5(GFAP):c.980C>T (p.Ala327Val)	GFAP (A327V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302334	NM_002055.5(GFAP):c.917T>C (p.Leu306Pro)	GFAP (L306P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1257399	NM_002055.5(GFAP):c.907-35G>C	GFAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181888	NM_002055.5(GFAP):c.907-98C>G	GFAP, LOC130060995	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 66511	NM_002055.5(GFAP):c.907-100A>C	GFAP, LOC130060995	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 66510	NM_002055.5(GFAP):c.906+81A>G	GFAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 66509	NM_002055.5(GFAP):c.883G>A (p.Asp295Asn)	GFAP (D295N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2768154	NM_002055.5(GFAP):c.869A>C (p.Gln290Pro)	GFAP (Q290P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 66508	NM_002055.5(GFAP):c.858G>A (p.Arg286=)	GFAP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1307330	NM_002055.5(GFAP):c.841G>T (p.Glu281Ter)	GFAP (E281*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1698085	NM_002055.5(GFAP):c.817G>T (p.Glu273Ter)	GFAP (E273*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 1275908	NM_002055.5(GFAP):c.781-316dup	GFAP	Duplication (intron variant)	not provided	GBenign
Select item 1281089	NM_002055.5(GFAP):c.781-317C>A	GFAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179285	NM_002055.5(GFAP):c.780+297G>A	GFAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297221	NM_002055.5(GFAP):c.780+123C>A	GFAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 66502	NM_002055.5(GFAP):c.758C>G (p.Ala253Gly)	GFAP (A253G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 323614	NM_002055.5(GFAP):c.738G>A (p.Ala246=)	GFAP	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1303423	NM_002055.5(GFAP):c.737C>T (p.Ala246Val)	GFAP (A246V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 323615	NM_002055.5(GFAP):c.720G>T (p.Thr240=)	GFAP	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 16168	NM_002055.5(GFAP):c.716G>A (p.Arg239His)	GFAP (R239H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 16167	NM_002055.5(GFAP):c.715C>T (p.Arg239Cys)	GFAP (R239C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 3372487	NM_002055.5(GFAP):c.695C>A (p.Thr232Asn)	GFAP (T232N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 558830	NM_002055.5(GFAP):c.625C>T (p.Arg209Trp)	GFAP (R209W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432125	NM_002055.5(GFAP):c.620A>T (p.Glu207Val)	GFAP (E207V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 323617	NM_002055.5(GFAP):c.619-9C>G	GFAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 66489	NM_002055.5(GFAP):c.619-12C>T	GFAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 66490	NM_002055.5(GFAP):c.619-96G>T	GFAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1810000	NM_002055.5(GFAP):c.586G>T (p.Glu196Ter)	GFAP (E196*)	Single nucleotide variant (nonsense)	not specified +1 more	GUncertain significance
Select item 2574881	NM_002055.5(GFAP):c.514T>C (p.Tyr172His)	GFAP (Y172H)	Single nucleotide variant (missense variant)	not provided	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 66485	NM_002055.5(GFAP):c.469G>A (p.Asp157Asn)	GFAP (D157N)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1244330	NM_002055.5(GFAP):c.462-24C>T	GFAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208303	NM_002055.5(GFAP):c.462-295TG[10]	GFAP	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1224283	NM_002055.5(GFAP):c.462-286_462-285insGG	GFAP	Insertion (intron variant)	not provided	GBenign
Select item 1252125	NM_002055.5(GFAP):c.461+199del	GFAP	Deletion (intron variant)	not provided	GBenign
Select item 1226824	NM_002055.5(GFAP):c.461+142C>T	GFAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1807550	NM_002055.5(GFAP):c.363_371dup (p.Arg124_Leu125insGluLeuArg)	GFAP	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3363906	NM_002055.5(GFAP):c.370C>T (p.Arg124Trp)	GFAP (R124W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 323624	NM_002055.5(GFAP):c.342C>A (p.Asp114Glu)	GFAP (D114E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1309422	NM_002055.5(GFAP):c.328A>G (p.Thr110Ala)	GFAP (T110A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 323626	NM_002055.5(GFAP):c.313C>T (p.Arg105Trp)	GFAP (R105W)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 16172	NM_002055.5(GFAP):c.262C>T (p.Arg88Cys)	GFAP (R88C)	Single nucleotide variant (missense variant)	Alexander disease +1 more	GPathogenic
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 1810011	NM_002055.5(GFAP):c.247T>A (p.Tyr83Asn)	GFAP (Y83N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16170	NM_002055.5(GFAP):c.236G>A (p.Arg79His)	GFAP (R79H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 66470	NM_002055.5(GFAP):c.235C>G (p.Arg79Gly)	GFAP (R79G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 16171	NM_002055.5(GFAP):c.235C>T (p.Arg79Cys)	GFAP (R79C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 66461	NM_002055.5(GFAP):c.209G>A (p.Arg70Gln)	GFAP (R70Q)	Single nucleotide variant (missense variant)	Alexander disease +1 more	GConflicting classifications of pathogenicity
Select item 372607	NM_002055.5(GFAP):c.197G>C (p.Arg66Pro)	GFAP (R66P)	Single nucleotide variant (missense variant)	not provided	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 1308545	NM_002055.5(GFAP):c.196C>T (p.Arg66Trp)	GFAP (R66W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371101	NM_002055.5(GFAP):c.161T>A (p.Leu54Gln)	GFAP (L54Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304374	NM_002055.5(GFAP):c.151G>A (p.Asp51Asn)	GFAP (D51N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 66458	NM_002055.5(GFAP):c.141G>A (p.Pro47=)	GFAP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 66512	NM_002055.5(GFAP):c.96T>C (p.Gly32=)	GFAP	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 66426	NM_002055.4(GFAP):c.-264C>A	GFAP	Single nucleotide variant	not provided	GBenign
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

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Items: 100