ClinVar for Gene (Select 118429) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366563	NC_000004.11:g.(?_80822299)_(80828622_80898774)dup	ANTXR2	Duplication	not specified	GUncertain significance
Select item 3340169	NM_058172.6(ANTXR2):c.353C>A (p.Thr118Lys)	ANTXR2 (T118K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339179	NM_058172.6(ANTXR2):c.658G>A (p.Glu220Lys)	ANTXR2 (E143K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299421	NM_058172.6(ANTXR2):c.358A>G (p.Ile120Val)	ANTXR2 (I120V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299412	NM_058172.6(ANTXR2):c.38G>A (p.Ser13Asn)	ANTXR2, LOC129992737 (S13N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3299407	NM_058172.6(ANTXR2):c.1393C>T (p.Arg465Trp)	ANTXR2 (R388W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299405	NM_058172.6(ANTXR2):c.1072C>A (p.Pro358Thr)	ANTXR2 (P281T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255468	NM_058172.6(ANTXR2):c.[1073dup];[1074del]			Hyaline fibromatosis syndrome	GPathogenic
Select item 3127252	NM_058172.6(ANTXR2):c.593C>G (p.Pro198Arg)	ANTXR2 (P198R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127251	NM_058172.6(ANTXR2):c.497C>A (p.Ser166Tyr)	ANTXR2 (S166Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127250	NM_058172.6(ANTXR2):c.328A>C (p.Lys110Gln)	ANTXR2 (K33Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127248	NM_058172.6(ANTXR2):c.179T>C (p.Ile60Thr)	ANTXR2 (I60T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3127247	NM_058172.6(ANTXR2):c.179T>A (p.Ile60Asn)	ANTXR2 (I60N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3127246	NM_058172.6(ANTXR2):c.1382G>A (p.Arg461Gln)	ANTXR2 (R461Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127245	NM_058172.6(ANTXR2):c.1314G>T (p.Gln438His)	ANTXR2 (Q361H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127244	NM_058172.6(ANTXR2):c.1238A>C (p.Asn413Thr)	ANTXR2 (N336T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127243	NM_058172.6(ANTXR2):c.1070C>A (p.Ala357Asp)	ANTXR2 (A280D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065592	NM_058172.6(ANTXR2):c.390A>T (p.Gln130His)	ANTXR2 (Q130H +1 more)	Single nucleotide variant (missense variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 3065591	NM_058172.6(ANTXR2):c.396G>T (p.Gln132His)	ANTXR2 (Q132H +1 more)	Single nucleotide variant (missense variant)	Hyaline fibromatosis syndrome	GUncertain significance
Select item 3058249	NM_058172.6(ANTXR2):c.1042-6del	ANTXR2	Deletion (intron variant)	ANTXR2-related disorder	GLikely benign
Select item 3038554	NM_058172.6(ANTXR2):c.456C>T (p.Asp152=)	ANTXR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3035531	NM_058172.6(ANTXR2):c.637-11_637-10dup	ANTXR2	Duplication (intron variant)	ANTXR2-related disorder	GLikely benign
Select item 3035448	NM_058172.6(ANTXR2):c.637-11_637-10del	ANTXR2	Deletion (intron variant)	ANTXR2-related disorder	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2635528	NM_058172.6(ANTXR2):c.697+1G>A	ANTXR2	Single nucleotide variant (splice donor variant)	ANTXR2-related disorder	GLikely pathogenic
Select item 2614660	NM_058172.6(ANTXR2):c.647A>G (p.Gln216Arg)	ANTXR2 (Q139R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585639	NM_058172.6(ANTXR2):c.1139del (p.Tyr380fs)	ANTXR2 (Y380fs +1 more)	Deletion (frameshift variant)	Hyaline fibromatosis syndrome	GPathogenic
Select item 2585304	NM_058172.6(ANTXR2):c.211del (p.Glu71fs)	ANTXR2 (E71fs)	Deletion (frameshift variant +1 more)	Hyaline fibromatosis syndrome	GLikely pathogenic
Select item 2581430	NM_058172.6(ANTXR2):c.1294C>T (p.Arg432Ter)	ANTXR2 (R355* +1 more)	Single nucleotide variant (nonsense)	Hyaline fibromatosis syndrome	GPathogenic
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 2559618	NM_058172.6(ANTXR2):c.1081A>G (p.Lys361Glu)	ANTXR2 (K284E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540041	NM_058172.6(ANTXR2):c.1072C>G (p.Pro358Ala)	ANTXR2 (P281A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531072	NM_058172.6(ANTXR2):c.625A>G (p.Ile209Val)	ANTXR2 (I132V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2501277	NM_058172.6(ANTXR2):c.1450C>T (p.Arg484Ter)	ANTXR2 (R407* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2495793	NM_058172.6(ANTXR2):c.48C>A (p.Phe16Leu)	ANTXR2 (F16L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491591	NM_058172.6(ANTXR2):c.1304C>T (p.Pro435Leu)	ANTXR2 (P358L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480471	NM_058172.6(ANTXR2):c.450G>T (p.Lys150Asn)	ANTXR2 (K150N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475616	NM_058172.6(ANTXR2):c.725G>A (p.Arg242Lys)	ANTXR2 (R165K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464225	NM_058172.6(ANTXR2):c.643G>A (p.Ala215Thr)	ANTXR2 (A138T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445864	NM_058172.6(ANTXR2):c.1087-1G>A	ANTXR2	Single nucleotide variant (splice acceptor variant)	Hyaline fibromatosis syndrome	GLikely pathogenic
Select item 2445809	NM_058172.6(ANTXR2):c.1347+6T>C	ANTXR2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2434220	NM_058172.6(ANTXR2):c.297-1G>A	ANTXR2	Single nucleotide variant (splice acceptor variant)	Hyaline fibromatosis syndrome	GLikely pathogenic
Select item 2431563	NM_058172.6(ANTXR2):c.487-2A>G	ANTXR2	Single nucleotide variant (splice acceptor variant)	Hyaline fibromatosis syndrome	GLikely pathogenic
Select item 2431432	NM_058172.6(ANTXR2):c.1287_1288del (p.Arg429fs)	ANTXR2 (R352fs +1 more)	Deletion (frameshift variant)	Hyaline fibromatosis syndrome	GLikely pathogenic
Select item 2429298	NM_058172.6(ANTXR2):c.1465T>C (p.Ter489Gln)	ANTXR2	Single nucleotide variant (stop lost)	not specified	GUncertain significance
Select item 2388195	NM_058172.6(ANTXR2):c.959C>T (p.Ala320Val)	ANTXR2 (A243V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344253	NM_058172.6(ANTXR2):c.209C>T (p.Ala70Val)	ANTXR2 (A70V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335262	NM_058172.6(ANTXR2):c.1282C>A (p.Pro428Thr)	ANTXR2 (P351T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334670	NM_058172.6(ANTXR2):c.953G>C (p.Gly318Ala)	ANTXR2 (G318A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334506	NM_058172.6(ANTXR2):c.1355T>C (p.Leu452Pro)	ANTXR2 (L375P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293368	NM_058172.6(ANTXR2):c.640C>A (p.Leu214Ile)	ANTXR2 (L214I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270193	NM_058172.6(ANTXR2):c.788A>G (p.Tyr263Cys)	ANTXR2 (Y263C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215113	NM_058172.6(ANTXR2):c.416C>A (p.Thr139Asn)	ANTXR2 (T139N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1879605	NM_058172.6(ANTXR2):c.1268_1269del (p.Glu423fs)	ANTXR2 (E346fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1809186	GRCh37/hg19 4q21.21(chr4:80779226-80913468)x1	ANTXR2, PCAT4	Copy number loss	not provided	GUncertain significance
Select item 1801971	NM_058172.6(ANTXR2):c.421A>G (p.Ser141Gly)	ANTXR2 (S141G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723454	NM_058172.6(ANTXR2):c.496_497del (p.Ser166fs)	ANTXR2 (S166fs +1 more)	Deletion (frameshift variant)	Hyaline fibromatosis syndrome	GLikely pathogenic
Select item 1699672	NM_058172.6(ANTXR2):c.1041+5G>C	ANTXR2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1696001	NM_058172.6(ANTXR2):c.1069G>A (p.Ala357Thr)	ANTXR2 (A280T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1696000	NM_058172.6(ANTXR2):c.469T>C (p.Ser157Pro)	ANTXR2 (S157P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1695999	NM_058172.6(ANTXR2):c.712G>T (p.Val238Phe)	ANTXR2 (V161F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684642	NC_000004.12:g.67833055_82716065del	BTC, CABS1 +330 more	Deletion	See cases	GPathogenic
Select item 1527102	GRCh37/hg19 4q21.21-21.22(chr4:80865788-82927188)	ANTXR2, BMP3 +5 more	Copy number loss	not specified	GUncertain significance
Select item 1527101	GRCh37/hg19 4q21.21(chr4:80779225-80913468)	ANTXR2, PCAT4	Copy number loss	not specified	GUncertain significance
Select item 1527100	GRCh37/hg19 4q21.21-22.2(chr4:79780152-94873225)	ABCG2, ABRAXAS1 +63 more	Copy number loss	not specified	GPathogenic
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1347224	NC_000004.11:g.(?_80828583)_(81124686_?)del	ANTXR2, PRDM8	Deletion	Early-onset Lafora body disease	GUncertain significance
Select item 1341211	GRCh37/hg19 4q21.21-22.1(chr4:80467886-93362064)x1	ABCG2, ABRAXAS1 +58 more	Copy number loss	not provided	GPathogenic
Select item 1341208	GRCh37/hg19 4q21.21(chr4:80634764-80856478)x3	ANTXR2, PCAT4	Copy number gain	not provided	GUncertain significance
Select item 1341142	GRCh37/hg19 4q21.21(chr4:80938743-81054790)x1	ANTXR2	Copy number loss	not provided	GUncertain significance
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1332786	NM_058172.6(ANTXR2):c.1073del (p.Pro358fs)	ANTXR2 (P281fs +1 more)	Deletion (frameshift variant)	Hyaline fibromatosis syndrome	GPathogenic
Select item 1329052	NM_058172.6(ANTXR2):c.1428+1G>A	ANTXR2 (V477I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1323915	NM_058172.6(ANTXR2):c.297-2del	ANTXR2	Deletion (splice acceptor variant)	Hyaline fibromatosis syndrome	GLikely pathogenic
Select item 1313397	NM_058172.6(ANTXR2):c.136T>C (p.Tyr46His)	ANTXR2 (Y46H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1313056	NM_058172.6(ANTXR2):c.746G>A (p.Arg249Gln)	ANTXR2 (R172Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300701	NM_058172.6(ANTXR2):c.225-111C>T	ANTXR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296743	NM_058172.6(ANTXR2):c.1086+122T>G	ANTXR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291839	NM_058172.6(ANTXR2):c.1180-196del	ANTXR2	Deletion (intron variant)	not provided	GBenign
Select item 1284153	NM_058172.6(ANTXR2):c.556-258T>G	ANTXR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282450	NM_058172.6(ANTXR2):c.1042-295G>T	ANTXR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279994	NM_058172.6(ANTXR2):c.152+181C>G	ANTXR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279276	NM_058172.6(ANTXR2):c.487-48C>A	ANTXR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278139	NM_058172.6(ANTXR2):c.225-193G>A	ANTXR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276522	NM_058172.6(ANTXR2):c.945+280A>G	ANTXR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272898	NC_000004.12:g.80073524dup	ANTXR2, LOC129992739	Duplication	not provided	GBenign
Select item 1265806	NM_058172.6(ANTXR2):c.1429-119A>T	ANTXR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265020	NM_058172.6(ANTXR2):c.1429-47T>A	ANTXR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263951	NM_058172.6(ANTXR2):c.945+73G>A	ANTXR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263440	NM_058172.6(ANTXR2):c.556-254_556-252del	ANTXR2	Deletion (intron variant)	not provided	GBenign
Select item 1259445	NM_058172.6(ANTXR2):c.297-130A>T	ANTXR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257700	NM_058172.6(ANTXR2):c.152+161C>T	ANTXR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254019	NM_058172.6(ANTXR2):c.296+184A>G	ANTXR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252174	NM_058172.6(ANTXR2):c.797-257G>A	ANTXR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249845	NM_058172.6(ANTXR2):c.1180-209dup	ANTXR2	Duplication (intron variant)	not provided	GBenign
Select item 1249177	NM_058172.6(ANTXR2):c.1042-167C>T	ANTXR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247772	NM_058172.6(ANTXR2):c.1042-197A>T	ANTXR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236691	NM_058172.6(ANTXR2):c.296+223_296+226dup	ANTXR2	Duplication (intron variant)	not provided	GBenign
Select item 1231167	NM_058172.6(ANTXR2):c.1179+168C>T	ANTXR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230250	NM_058172.6(ANTXR2):c.1086+233A>G	ANTXR2	Single nucleotide variant (intron variant)	not provided	GBenign

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