"GeneDx"[submitter] AND "ANTXR1"[gene] - ClinVar

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Search results

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1180103	NM_032208.3(ANTXR1):c.20G>A (p.Arg7Lys)	ANTXR1 (R7K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1221510	NM_032208.3(ANTXR1):c.152+89G>C	ANTXR1	Single nucleotide variant (intron variant)	not provided +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)	GAPO syndrome +1 more	GBenign
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 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 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 1257916	NM_032208.3(ANTXR1):c.413-67G>C	ANTXR1	Single nucleotide variant (intron variant)	GAPO syndrome +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)	GAPO syndrome +1 more	GBenign
Select item 1178681	NM_032208.3(ANTXR1):c.492+10G>A	ANTXR1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1264916	NM_032208.3(ANTXR1):c.492+41C>T	ANTXR1	Single nucleotide variant (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 1224003	NM_032208.3(ANTXR1):c.642+99T>C	ANTXR1	Single nucleotide variant (intron variant)	GAPO syndrome +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 1241632	NM_032208.3(ANTXR1):c.802+46A>G	ANTXR1	Single nucleotide variant (intron variant)	GAPO syndrome +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 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 1265228	NM_032208.3(ANTXR1):c.951+188G>A	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1235135	NM_032208.3(ANTXR1):c.1048-223G>A	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274152	NM_032208.3(ANTXR1):c.1089+173C>T	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262019	NM_032208.3(ANTXR1):c.1185+16C>A	ANTXR1	Single nucleotide variant (intron variant)	GAPO syndrome +3 more	GBenign
Select item 1281180	NM_032208.3(ANTXR1):c.1434+28TC[12]	ANTXR1	Microsatellite (intron variant)	not provided	GBenign
Select item 1224194	NM_032208.3(ANTXR1):c.1434+28TC[11]	ANTXR1	Microsatellite (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 1269855	NM_032208.3(ANTXR1):c.1434+45CA[4]	ANTXR1	Microsatellite (intron variant)	not provided	GBenign
Select item 1245395	NM_032208.3(ANTXR1):c.1434+44T>A	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262785	NM_032208.3(ANTXR1):c.1434+46A>T	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260762	NM_032208.3(ANTXR1):c.1434+49T>C	ANTXR1	Single nucleotide variant (intron variant)	GAPO syndrome +1 more	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 1279824	NM_032208.3(ANTXR1):c.1435-72G>A	ANTXR1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1250228	NM_032208.3(ANTXR1):c.1497C>T (p.Asn499=)	ANTXR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1276617	NM_032208.3(ANTXR1):c.*16C>G	ANTXR1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 60