GFAP[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 66425	NM_002055.5(GFAP):c.*32C>G	GFAP	Single nucleotide variant (3 prime UTR variant)	not provided	Gnot provided
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 66456	NM_002055.5(GFAP):c.1277A>T (p.Gln426Leu)	GFAP (Q426L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	Gnot provided
Select item 2695257	NM_002055.5(GFAP):c.1263del (p.Lys422fs)	GFAP (K422fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 425133	NM_002055.5(GFAP):c.1262T>C (p.Ile421Thr)	GFAP (I421T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960976	NM_002055.5(GFAP):c.1258-9C>A	GFAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1377902	NM_002055.5(GFAP):c.1258-10T>A	GFAP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1655300	NM_002055.5(GFAP):c.1258-19C>T	GFAP	Single nucleotide variant (intron variant)	not provided	GLikely 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 1969980	NM_002055.5(GFAP):c.1257+1G>A	GFAP	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1438282	NM_002055.5(GFAP):c.1256A>G (p.Glu419Gly)	GFAP (E459G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 66454	NM_002055.5(GFAP):c.1250A>C (p.Asp417Ala)	GFAP (D417A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	Gnot provided
Select item 190365	NM_002055.5(GFAP):c.1249del (p.Asp417fs)	GFAP (D457fs +1 more)	Deletion (frameshift variant)	Alexander disease	Gnot provided
Select item 1049190	NM_002055.5(GFAP):c.1247G>A (p.Arg416Gln)	GFAP (R416Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1568605	NM_002055.5(GFAP):c.1246C>A (p.Arg416=)	GFAP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 16169	NM_002055.5(GFAP):c.1246C>T (p.Arg416Trp)	GFAP (R416W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
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 987473	NM_002055.5(GFAP):c.1240del (p.Glu414fs)	GFAP (E414fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2175616	NM_002055.5(GFAP):c.1237G>A (p.Val413Met)	GFAP (V453M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498706	NM_002055.5(GFAP):c.1236C>T (p.Thr412=)	GFAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 323609	NM_002055.5(GFAP):c.1236C>A (p.Thr412=)	GFAP	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 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 1715460	NM_002055.5(GFAP):c.1228G>T (p.Val410Leu)	GFAP (V410L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1429782	NM_002055.5(GFAP):c.1225G>A (p.Val409Met)	GFAP (V409M +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 985000	NM_002055.5(GFAP):c.1220A>C (p.Asn407Thr)	GFAP (N407T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2181525	NM_002055.5(GFAP):c.1216A>G (p.Arg406Gly)	GFAP (R446G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1362888	NM_002055.5(GFAP):c.1204G>A (p.Gly402Ser)	GFAP (G402S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 66453	NM_002055.5(GFAP):c.1193C>A (p.Ser398Tyr)	GFAP (S398Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	Gnot provided
Select item 3008369	NM_002055.5(GFAP):c.1182G>A (p.Leu394=)	GFAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 66452	NM_002055.5(GFAP):c.1178G>T (p.Ser393Ile)	GFAP (S393I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	Gnot provided
Select item 1920670	NM_002055.5(GFAP):c.1172-3C>T	GFAP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1900210	NM_002055.5(GFAP):c.1172-16C>G	GFAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 66451	NM_002055.5(GFAP):c.1172-306A>G	GFAP	Single nucleotide variant (intron variant)	not provided	Gnot provided
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 190366	NM_002055.5(GFAP):c.1171+475_1171+482delinsATC	GFAP (G431fs)	Indel (frameshift variant +3 more)	Alexander disease	GPathogenic
Select item 1210094	NM_002055.5(GFAP):c.1171+474G>A	GFAP (E431K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
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 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 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 1962658	NM_002055.5(GFAP):c.1171+471C>A	GFAP (R430S)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 66449	NM_002055.5(GFAP):c.1171+471C>T	GFAP (R430C)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign
Select item 1985926	NM_002055.5(GFAP):c.1171+467G>T	GFAP	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 493215	NM_002055.5(GFAP):c.1171+467G>A	GFAP	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1150860	NM_002055.5(GFAP):c.1171+465C>A	GFAP (P428T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2984585	NM_002055.5(GFAP):c.1171+463C>T	GFAP (P427L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3029885	NM_002055.5(GFAP):c.1171+461G>C	GFAP	Single nucleotide variant (synonymous variant +2 more)	GFAP-related disorder	GLikely benign
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 994598	NM_002055.5(GFAP):c.1171+459_1171+460inv	GFAP (T426V)	Inversion (missense variant +2 more)	not specified +1 more	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 3018416	NM_002055.5(GFAP):c.1171+450G>A	GFAP (V423I)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2009499	NM_002055.5(GFAP):c.1171+449T>C	GFAP	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2201672	NM_002055.5(GFAP):c.1171+444C>T	GFAP (Q421*)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 2139079	NM_002055.5(GFAP):c.1171+425T>G	GFAP	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1607792	NM_002055.5(GFAP):c.1171+423G>A	GFAP (V414I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 738597	NM_002055.5(GFAP):c.1171+421G>A	GFAP (R413Q)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 225373	NM_002055.5(GFAP):c.1171+420C>T	GFAP (R413*)	Single nucleotide variant (nonsense +2 more)	Alexander disease +1 more	GConflicting classifications of pathogenicity
Select item 3004214	NM_002055.5(GFAP):c.1171+398dup	GFAP (Y406fs)	Duplication (frameshift variant +2 more)	not provided	GUncertain significance
Select item 3005467	NM_002055.5(GFAP):c.1171+396A>G	GFAP (R405G)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2886586	NM_002055.5(GFAP):c.1171+375G>A	GFAP (G398R)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2885907	NM_002055.5(GFAP):c.1171+374C>T	GFAP	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1934959	NM_002055.5(GFAP):c.1171+366A>G	GFAP (T395A)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1644079	NM_002055.5(GFAP):c.1171+359C>G	GFAP	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1646159	NM_002055.5(GFAP):c.1171+352C>T	GFAP	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1601928	NM_002055.5(GFAP):c.1171+336dup	GFAP	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3051628	NM_002055.5(GFAP):c.1171+149A>G	GFAP	Single nucleotide variant (3 prime UTR variant +1 more)	GFAP-related disorder	GLikely benign
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 2647840	NM_002055.5(GFAP):c.1171+143C>T	GFAP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2647841	NM_002055.5(GFAP):c.1171+139G>A	GFAP (R437H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3026239	NM_002055.5(GFAP):c.1171+66T>A	GFAP (L413M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1690794	NM_002055.5(GFAP):c.1171+21T>C	GFAP (W398R)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 2960882	NM_002055.5(GFAP):c.1171+20G>A	GFAP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1917982	NM_002055.5(GFAP):c.1171+20G>C	GFAP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1912687	NM_002055.5(GFAP):c.1171+19C>A	GFAP (S397*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 2971919	NM_002055.5(GFAP):c.1171+16C>T	GFAP (A396V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2784318	NM_002055.5(GFAP):c.1171+1_1171+5del	GFAP (G391fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
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 1376521	NM_002055.5(GFAP):c.1171+4A>G	GFAP (Q392R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2227898	NM_002055.5(GFAP):c.1171G>A (p.Glu391Lys)	GFAP (E391K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1977712	NM_002055.5(GFAP):c.1169G>A (p.Arg390Gln)	GFAP (R390Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303976	NM_002055.5(GFAP):c.1168C>T (p.Arg390Ter)	GFAP (R390*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1912276	NM_002055.5(GFAP):c.1167T>C (p.Ile389=)	GFAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2138057	NM_002055.5(GFAP):c.1157A>G (p.Asn386Ser)	GFAP (N386S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 66448	NM_002055.5(GFAP):c.1157A>T (p.Asn386Ile)	GFAP (N386I)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2092317	NM_002055.5(GFAP):c.1156A>C (p.Asn386His)	GFAP (N386H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 66447	NM_002055.5(GFAP):c.1148C>T (p.Thr383Ile)	GFAP (T383I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466296	NM_002055.5(GFAP):c.1144C>G (p.Gln382Glu)	GFAP (Q382E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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