ClinVar for Gene (Select 84168) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3127241	NM_032208.3(ANTXR1):c.263G>A (p.Arg88Gln)	ANTXR1 (R88Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127240	NM_032208.3(ANTXR1):c.1669C>T (p.Arg557Cys)	ANTXR1 (R557C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127239	NM_032208.3(ANTXR1):c.1582G>C (p.Ala528Pro)	ANTXR1 (A528P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127238	NM_032208.3(ANTXR1):c.1562G>C (p.Cys521Ser)	ANTXR1 (C521S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127237	NM_032208.3(ANTXR1):c.1522C>T (p.Pro508Ser)	ANTXR1 (P508S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127236	NM_032208.3(ANTXR1):c.1372T>G (p.Trp458Gly)	ANTXR1 (W458G)	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 3062658	GRCh37/hg19 2p14-13.3(chr2:67702012-70506257)x1	AAK1, ANTXR1 +24 more	Copy number loss	not specified	GUncertain significance
Select item 3058086	NM_032208.3(ANTXR1):c.1089+2074G>T	ANTXR1	Single nucleotide variant (intron variant)	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 3050550	NM_032208.3(ANTXR1):c.1089+2083T>C	ANTXR1	Single nucleotide variant (synonymous variant +1 more)	ANTXR1-related disorder	GLikely benign
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 3035028	NM_032208.3(ANTXR1):c.552T>C (p.Asn184=)	ANTXR1	Single nucleotide variant (synonymous variant)	ANTXR1-related disorder	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 2871482	NM_032208.3(ANTXR1):c.379-16T>A	ANTXR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868072	NM_032208.3(ANTXR1):c.704-20G>A	ANTXR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860722	NM_032208.3(ANTXR1):c.1620T>A (p.Leu540=)	ANTXR1	Single nucleotide variant (synonymous 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 2816418	NM_032208.3(ANTXR1):c.152+17G>T	ANTXR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801869	NM_032208.3(ANTXR1):c.153-8T>C	ANTXR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2736672	NM_032208.3(ANTXR1):c.720C>T (p.Val240=)	ANTXR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715469	NM_032208.3(ANTXR1):c.1245T>C (p.Asn415=)	ANTXR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2712718	NM_032208.3(ANTXR1):c.1434+9C>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 2664849	NM_032208.3(ANTXR1):c.1434+1G>A	ANTXR1	Single nucleotide variant (splice donor variant)	GAPO syndrome	GLikely pathogenic
Select item 2651011	NM_032208.3(ANTXR1):c.951+5487del	ANTXR1	Deletion (intron variant)	not provided	GLikely benign
Select item 2596720	NM_032208.3(ANTXR1):c.1190G>A (p.Arg397His)	ANTXR1 (R397H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569719	NM_032208.3(ANTXR1):c.1411A>C (p.Met471Leu)	ANTXR1 (M471L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2537215	NM_032208.3(ANTXR1):c.308G>A (p.Arg103His)	ANTXR1 (R103H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504319	NM_032208.3(ANTXR1):c.1475C>T (p.Pro492Leu)	ANTXR1 (P492L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498868	GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1	AAK1, ACTR2 +43 more	Copy number loss	not provided	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 2455909	NM_032208.3(ANTXR1):c.1162G>A (p.Val388Ile)	ANTXR1 (V388I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 2388425	NM_032208.3(ANTXR1):c.1316G>A (p.Arg439Gln)	ANTXR1 (R439Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2358460	NM_032208.3(ANTXR1):c.1498G>A (p.Ala500Thr)	ANTXR1 (A500T)	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 2328242	NM_032208.3(ANTXR1):c.520A>G (p.Ile174Val)	ANTXR1 (I174V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327810	NM_032208.3(ANTXR1):c.1682G>A (p.Arg561Lys)	ANTXR1 (R561K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324869	NM_032208.3(ANTXR1):c.1510T>A (p.Ser504Thr)	ANTXR1 (S504T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2296625	NM_032208.3(ANTXR1):c.1571C>T (p.Pro524Leu)	ANTXR1 (P524L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283902	NM_032208.3(ANTXR1):c.1292G>A (p.Arg431Gln)	ANTXR1 (R431Q)	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 2283833	NM_032208.3(ANTXR1):c.100G>A (p.Asp34Asn)	ANTXR1 (D34N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271756	NM_032208.3(ANTXR1):c.1670G>C (p.Arg557Pro)	ANTXR1 (R557P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2245482	NM_032208.3(ANTXR1):c.1331G>A (p.Arg444Gln)	ANTXR1 (R444Q)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex +1 more	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 2230770	NM_032208.3(ANTXR1):c.1618C>A (p.Leu540Ile)	ANTXR1 (L540I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210113	NM_032208.3(ANTXR1):c.1312C>T (p.Arg438Cys)	ANTXR1 (R438C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207020	NM_032208.3(ANTXR1):c.1670G>A (p.Arg557His)	ANTXR1 (R557H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2190691	NM_032208.3(ANTXR1):c.1439G>A (p.Arg480His)	ANTXR1 (R480H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2184157	NM_032208.3(ANTXR1):c.1422G>A (p.Gln474=)	ANTXR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2164627	NM_032208.3(ANTXR1):c.1263G>A (p.Pro421=)	ANTXR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2143502	NM_032208.3(ANTXR1):c.888G>A (p.Gln296=)	ANTXR1	Single nucleotide variant (synonymous 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 2091199	NM_032208.3(ANTXR1):c.1375G>A (p.Val459Ile)	ANTXR1 (V459I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079851	NM_032208.3(ANTXR1):c.963C>T (p.Ser321=)	ANTXR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2078587	NM_032208.3(ANTXR1):c.1392A>G (p.Gly464=)	ANTXR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2067932	NM_032208.3(ANTXR1):c.1582G>A (p.Ala528Thr)	ANTXR1 (A528T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2059305	NM_032208.3(ANTXR1):c.1517C>T (p.Pro506Leu)	ANTXR1 (P506L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2055235	NM_032208.3(ANTXR1):c.803-7T>A	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2053437	NM_032208.3(ANTXR1):c.978C>T (p.Ala326=)	ANTXR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052890	NM_032208.3(ANTXR1):c.1395T>C (p.Tyr465=)	ANTXR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2049929	NM_032208.3(ANTXR1):c.1224T>G (p.Ala408=)	ANTXR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 2037447	NM_032208.3(ANTXR1):c.1554G>A (p.Ala518=)	ANTXR1	Single nucleotide variant (synonymous variant)	ANTXR1-related disorder +1 more	GBenign
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 1977858	NM_032208.3(ANTXR1):c.492+16G>T	ANTXR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1977626	NM_032208.3(ANTXR1):c.1508C>A (p.Thr503Asn)	ANTXR1 (T503N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972005	NM_032208.3(ANTXR1):c.561+2_561+5dup	ANTXR1	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 1971293	NM_032208.3(ANTXR1):c.152+25dup	ANTXR1	Duplication (intron variant)	not provided	GBenign
Select item 1907395	NM_032208.3(ANTXR1):c.77C>T (p.Ala26Val)	ANTXR1 (A26V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 1710800	NM_032208.3(ANTXR1):c.1601C>A (p.Pro534Gln)	ANTXR1 (P534Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1710640	NM_032208.3(ANTXR1):c.1603_1604delinsGT (p.Ser535Val)	ANTXR1 (S535V)	Indel (missense variant)	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
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 1693166	NM_032208.3(ANTXR1):c.379-32T>G	ANTXR1	Single nucleotide variant (intron variant)	GAPO syndrome	GBenign
Select item 1569738	NM_032208.3(ANTXR1):c.561+18del	ANTXR1	Deletion (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 1294584	NM_032208.3(ANTXR1):c.153-42G>A	ANTXR1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1288244	NM_032208.3(ANTXR1):c.297-157C>T	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287403	NM_032208.3(ANTXR1):c.413-65_413-63del	ANTXR1	Deletion (intron variant)	GAPO syndrome +1 more	GBenign
Select item 1286308	NM_032208.3(ANTXR1):c.378+154C>A	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286123	NM_032208.3(ANTXR1):c.1434+76_1434+77insCATA	ANTXR1	Insertion (intron variant)	not provided	GBenign
Select item 1284222	NM_032208.3(ANTXR1):c.1434+75C>T	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282785	NM_032208.3(ANTXR1):c.1434+45_1434+46insTCAC	ANTXR1	Insertion (intron variant)	GAPO syndrome +1 more	GBenign
Select item 1281180	NM_032208.3(ANTXR1):c.1434+28TC[12]	ANTXR1	Microsatellite (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 1280441	NM_032208.3(ANTXR1):c.413-61G>A	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 1279824	NM_032208.3(ANTXR1):c.1435-72G>A	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 1277394	NM_032208.3(ANTXR1):c.378+37A>G	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign

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