84168[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 152020	GRCh38/hg38 2p14-13.3(chr2:64587095-69876311)x1	AAK1, ACTR2 +216 more	Copy number loss	See cases	GLikely pathogenic
Select item 1260062	NC_000002.12:g.69013128_69013131del	ANTXR1	Deletion	not provided	GBenign
Select item 1257909	NC_000002.12:g.69013128_69013133del	ANTXR1	Deletion	not provided	GBenign
Select item 1235595	NC_000002.12:g.69013128_69013132del	ANTXR1	Deletion	not provided	GBenign
Select item 1183293	NM_032208.3(ANTXR1):c.-294G>A	ANTXR1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1225718	NM_032208.3(ANTXR1):c.-289G>T	ANTXR1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1252458	NM_032208.3(ANTXR1):c.-42G>A	ANTXR1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1694959	NM_032208.3(ANTXR1):c.18G>A (p.Arg6=)	ANTXR1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1180103	NM_032208.3(ANTXR1):c.20G>A (p.Arg7Lys)	ANTXR1 (R7K)	Single nucleotide variant (missense variant)	ANTXR1-related disorder +1 more	GBenign
Select item 2547452	NM_032208.3(ANTXR1):c.55G>A (p.Ala19Thr)	ANTXR1 (A19T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1907395	NM_032208.3(ANTXR1):c.77C>T (p.Ala26Val)	ANTXR1 (A26V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 931360	NM_032208.3(ANTXR1):c.80G>T (p.Gly27Val)	ANTXR1 (G27V)	Single nucleotide variant (missense variant)	GAPO syndrome	GUncertain significance
Select item 2283833	NM_032208.3(ANTXR1):c.100G>A (p.Asp34Asn)	ANTXR1 (D34N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283834	NM_032208.3(ANTXR1):c.101A>T (p.Asp34Val)	ANTXR1 (D34V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127235	NM_032208.3(ANTXR1):c.133C>G (p.Leu45Val)	ANTXR1 (L45V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2816418	NM_032208.3(ANTXR1):c.152+17G>T	ANTXR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971293	NM_032208.3(ANTXR1):c.152+25dup	ANTXR1	Duplication (intron variant)	not provided	GBenign
Select item 1221510	NM_032208.3(ANTXR1):c.152+89G>C	ANTXR1	Single nucleotide variant (intron variant)	GAPO syndrome +1 more	GBenign
Select item 1246517	NM_032208.3(ANTXR1):c.153-148A>T	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294584	NM_032208.3(ANTXR1):c.153-42G>A	ANTXR1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2801869	NM_032208.3(ANTXR1):c.153-8T>C	ANTXR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2833685	NM_032208.3(ANTXR1):c.224+20T>G	ANTXR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236051	NM_032208.3(ANTXR1):c.224+57T>C	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226791	NM_032208.3(ANTXR1):c.224+81A>G	ANTXR1	Single nucleotide variant (intron variant)	GAPO syndrome +1 more	GBenign
Select item 50907	NM_032208.3(ANTXR1):c.262C>T (p.Arg88Ter)	ANTXR1 (R88*)	Single nucleotide variant (nonsense)	GAPO syndrome	GPathogenic
Select item 3127241	NM_032208.3(ANTXR1):c.263G>A (p.Arg88Gln)	ANTXR1 (R88Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1276136	NM_032208.3(ANTXR1):c.296+148G>A	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276091	NM_032208.3(ANTXR1):c.296+161G>A	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253115	NM_032208.3(ANTXR1):c.296+171C>T	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288244	NM_032208.3(ANTXR1):c.297-157C>T	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2537215	NM_032208.3(ANTXR1):c.308G>A (p.Arg103His)	ANTXR1 (R103H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1277394	NM_032208.3(ANTXR1):c.378+37A>G	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278210	NM_032208.3(ANTXR1):c.378+153C>T	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286308	NM_032208.3(ANTXR1):c.378+154C>A	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192396	NM_032208.3(ANTXR1):c.379-69T>C	ANTXR1	Single nucleotide variant (intron variant)	GAPO syndrome +1 more	GBenign
Select item 1693166	NM_032208.3(ANTXR1):c.379-32T>G	ANTXR1	Single nucleotide variant (intron variant)	GAPO syndrome	GBenign
Select item 2871482	NM_032208.3(ANTXR1):c.379-16T>A	ANTXR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874280	NM_032208.3(ANTXR1):c.379-13A>G	ANTXR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 224852	NM_032208.3(ANTXR1):c.411A>G (p.Gln137=)	ANTXR1	Single nucleotide variant (synonymous variant)	GAPO syndrome	GLikely pathogenic
Select item 1257916	NM_032208.3(ANTXR1):c.413-67G>C	ANTXR1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1287403	NM_032208.3(ANTXR1):c.413-65_413-63del	ANTXR1	Deletion (intron variant)	GAPO syndrome +1 more	GBenign
Select item 1280441	NM_032208.3(ANTXR1):c.413-61G>A	ANTXR1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1879472	NM_032208.3(ANTXR1):c.430G>A (p.Val144Ile)	ANTXR1 (V144I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2040640	NM_032208.3(ANTXR1):c.450T>C (p.Asp150=)	ANTXR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1178681	NM_032208.3(ANTXR1):c.492+10G>A	ANTXR1	Single nucleotide variant (intron variant)	GAPO syndrome +1 more	GBenign
Select item 1977858	NM_032208.3(ANTXR1):c.492+16G>T	ANTXR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264916	NM_032208.3(ANTXR1):c.492+41C>T	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 50906	NM_032208.3(ANTXR1):c.505C>T (p.Arg169Ter)	ANTXR1 (R169*)	Single nucleotide variant (nonsense)	GAPO syndrome	GLikely pathogenic
Select item 2328242	NM_032208.3(ANTXR1):c.520A>G (p.Ile174Val)	ANTXR1 (I174V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469143	NM_032208.3(ANTXR1):c.536G>C (p.Gly179Ala)	ANTXR1 (G179A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3035028	NM_032208.3(ANTXR1):c.552T>C (p.Asn184=)	ANTXR1	Single nucleotide variant (synonymous variant)	ANTXR1-related disorder	GLikely benign
Select item 1972005	NM_032208.3(ANTXR1):c.561+2_561+5dup	ANTXR1	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2241375	NM_032208.3(ANTXR1):c.561+6G>A	ANTXR1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1569738	NM_032208.3(ANTXR1):c.561+18del	ANTXR1	Deletion (intron variant)	not provided	GBenign
Select item 1257724	NM_032208.3(ANTXR1):c.561+100C>T	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2671784	NM_032208.3(ANTXR1):c.568del (p.Arg190fs)	ANTXR1 (R190fs)	Deletion (frameshift variant)	GAPO syndrome	GLikely pathogenic
Select item 3048846	NM_032208.3(ANTXR1):c.609C>T (p.Asp203=)	ANTXR1	Single nucleotide variant (synonymous variant)	ANTXR1-related disorder	GLikely benign
Select item 2260652	NM_032208.3(ANTXR1):c.638A>G (p.His213Arg)	ANTXR1 (H213R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1224003	NM_032208.3(ANTXR1):c.642+99T>C	ANTXR1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1280355	NM_032208.3(ANTXR1):c.642+159C>T	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192397	NM_032208.3(ANTXR1):c.643-66G>A	ANTXR1	Single nucleotide variant (intron variant)	GAPO syndrome +1 more	GBenign
Select item 1192398	NM_032208.3(ANTXR1):c.703+78T>G	ANTXR1	Single nucleotide variant (intron variant)	GAPO syndrome +1 more	GBenign
Select item 1260167	NM_032208.3(ANTXR1):c.703+110T>G	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262509	NM_032208.3(ANTXR1):c.703+217del	ANTXR1	Deletion (intron variant)	not provided	GBenign
Select item 1252908	NM_032208.3(ANTXR1):c.704-192T>C	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2868072	NM_032208.3(ANTXR1):c.704-20G>A	ANTXR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2117622	NM_032208.3(ANTXR1):c.704-16T>C	ANTXR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3127242	NM_032208.3(ANTXR1):c.716T>C (p.Val239Ala)	ANTXR1 (V239A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2736672	NM_032208.3(ANTXR1):c.720C>T (p.Val240=)	ANTXR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2374632	NM_032208.3(ANTXR1):c.733G>A (p.Gly245Ser)	ANTXR1 (G245S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355364	NM_032208.3(ANTXR1):c.736T>C (p.Phe246Leu)	ANTXR1 (F246L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1241632	NM_032208.3(ANTXR1):c.802+46A>G	ANTXR1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1182279	NM_032208.3(ANTXR1):c.803-40T>C	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2055235	NM_032208.3(ANTXR1):c.803-7T>A	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2205825	NM_032208.3(ANTXR1):c.830C>G (p.Thr277Ser)	ANTXR1 (T277S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1995284	NM_032208.3(ANTXR1):c.854T>C (p.Ile285Thr)	ANTXR1 (I285T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 808760	NM_032208.3(ANTXR1):c.854T>A (p.Ile285Asn)	ANTXR1 (I285N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1258154	NM_032208.3(ANTXR1):c.872+125G>A	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281141	NM_032208.3(ANTXR1):c.873-156A>G	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225109	NM_032208.3(ANTXR1):c.873-80G>A	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271895	NM_032208.3(ANTXR1):c.873-76T>A	ANTXR1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2143502	NM_032208.3(ANTXR1):c.888G>A (p.Gln296=)	ANTXR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1265228	NM_032208.3(ANTXR1):c.951+188G>A	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2651011	NM_032208.3(ANTXR1):c.951+5487del	ANTXR1	Deletion (intron variant)	not provided	GLikely benign
Select item 1174441	NM_032208.3(ANTXR1):c.952-6715A>G	ANTXR1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1259793	NM_032208.3(ANTXR1):c.952-21G>A	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2079851	NM_032208.3(ANTXR1):c.963C>T (p.Ser321=)	ANTXR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 4390	NM_032208.3(ANTXR1):c.976G>A (p.Ala326Thr)	ANTXR1 (A326T)	Single nucleotide variant (missense variant)	Capillary infantile hemangioma	Grisk factor
Select item 2053437	NM_032208.3(ANTXR1):c.978C>T (p.Ala326=)	ANTXR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1175959	NM_032208.3(ANTXR1):c.1031C>G (p.Pro344Arg)	ANTXR1 (P344R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1235135	NM_032208.3(ANTXR1):c.1048-223G>A	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1440919	NM_032208.3(ANTXR1):c.1067C>T (p.Pro356Leu)	ANTXR1 (P356L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1274152	NM_032208.3(ANTXR1):c.1089+173C>T	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3058086	NM_032208.3(ANTXR1):c.1089+2074G>T	ANTXR1	Single nucleotide variant (intron variant)	ANTXR1-related disorder	GLikely benign
Select item 3050550	NM_032208.3(ANTXR1):c.1089+2083T>C	ANTXR1	Single nucleotide variant (synonymous variant +1 more)	ANTXR1-related disorder	GLikely benign
Select item 3055833	NM_032208.3(ANTXR1):c.1089+2097AAG[2]	ANTXR1	Microsatellite (3 prime UTR variant +1 more)	ANTXR1-related disorder	GLikely benign
Select item 1032945	NM_032208.3(ANTXR1):c.1105G>A (p.Gly369Ser)	ANTXR1 (G369S)	Single nucleotide variant (missense variant)	GAPO syndrome	GUncertain significance
Select item 224853	NM_032208.3(ANTXR1):c.1150G>A (p.Gly384Ser)	ANTXR1 (G384S)	Single nucleotide variant (missense variant)	GAPO syndrome	GLikely pathogenic

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