2670[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 1342375	NC_000017.11:g.44846894_44962103del	C1QL1, CCDC103 +9 more	Deletion	not provided	GPathogenic
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 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 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 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 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 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 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 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 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 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 369148	NC_000017.11:g.44905727G>A	CCDC103, GFAP	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 323596	NC_000017.11:g.44905825A>G	CCDC103, GFAP	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 60171	GRCh38/hg38 17q21.31(chr17:44906235-45220406)x3	ACBD4, C1QL1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 323599	NC_000017.11:g.44906273G>A	CCDC103, GFAP	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 369152	NC_000017.11:g.44906346C>T	CCDC103, GFAP	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 323601	NC_000017.11:g.44906533A>T	CCDC103, GFAP	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 323604	NC_000017.11:g.44907009G>A	CCDC103, GFAP	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 66425	NM_002055.5(GFAP):c.*32C>G	GFAP	Single nucleotide variant (3 prime UTR variant)	not provided	Gnot provided
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 66456	NM_002055.5(GFAP):c.1277A>T (p.Gln426Leu)	GFAP (Q426L +1 more)	Single nucleotide variant (missense variant)	Alexander disease +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)	Alexander disease +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)	Alexander disease +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)	Alexander disease +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)	Alexander disease +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 3375676	NM_002055.5(GFAP):c.1171+475G>A	GFAP (G431D)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
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

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