LOC129995601[gene] - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 58405	GRCh38/hg38 6p25.3-25.1(chr6:107682-4978781)x1	BPHL, C6orf201 +260 more	Copy number loss	See cases	GPathogenic
Select item 58125	GRCh38/hg38 6p25.3-25.1(chr6:144957-5239181)x3	LINC02521, LINC02525 +281 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 154849	GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1	BPHL, C6orf201 +314 more	Copy number loss	See cases	GPathogenic
Select item 149755	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x1	LOC129995664, LOC129995665 +309 more	Copy number loss	See cases	GPathogenic
Select item 149754	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x3	BPHL, C6orf201 +309 more	Copy number gain	See cases	GLikely pathogenic
Select item 148422	GRCh38/hg38 6p25.3-25.1(chr6:152634-5315679)x1	BPHL, C6orf201 +289 more	Copy number loss	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995778, LOC129995779 +559 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 155308	GRCh38/hg38 6p25.3-25.1(chr6:156974-4946857)x3	LOC129995586, LOC129995587 +257 more	Copy number gain	See cases	GUncertain significance
Select item 154201	GRCh38/hg38 6p25.3-25.1(chr6:156974-4907692)x1	LOC123575648, LOC123575649 +257 more	Copy number loss	See cases	GPathogenic
Select item 154194	GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1	BPHL, C6orf201 +347 more	Copy number loss	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	SLC35B3, SMIM13 +510 more	Copy number gain	See cases	GLikely pathogenic
Select item 149126	GRCh38/hg38 6p25.3-25.2(chr6:163083-3459607)x1	BPHL, DUSP22 +213 more	Copy number loss	See cases	GPathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	BLOC1S5, BLOC1S5-TXNDC5 +437 more	Copy number gain	See cases	GPathogenic
Select item 146312	GRCh38/hg38 6p25.3(chr6:163083-2029531)x3	DUSP22, EXOC2 +120 more	Copy number gain	See cases	GPathogenic
Select item 58408	GRCh38/hg38 6p25.3-25.2(chr6:163083-2724611)x1	DUSP22, EXOC2 +129 more	Copy number loss	See cases	GPathogenic
Select item 58407	GRCh38/hg38 6p25.3-25.1(chr6:163083-5875402)x1	LOC129389433, LOC129995519 +303 more	Copy number loss	See cases	GPathogenic
Select item 57077	GRCh38/hg38 6p25.3-25.1(chr6:163083-6062800)x1	LOC129995673, LOC129995674 +307 more	Copy number loss	See cases	GPathogenic
Select item 57019	GRCh38/hg38 6p25.3(chr6:163083-1951351)x3	DUSP22, EXOC2 +118 more	Copy number gain	See cases	GPathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	See cases	GPathogenic
Select item 58410	GRCh38/hg38 6p25.3-25.1(chr6:164633-5823601)x1	BPHL, C6orf201 +302 more	Copy number loss	See cases	GPathogenic
Select item 58409	GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1	BPHL, C6orf201 +312 more	Copy number loss	See cases	GPathogenic
Select item 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	LOC123575663, LOC123575664 +433 more	Copy number loss	See cases	GPathogenic
Select item 151605	GRCh38/hg38 6p25.3(chr6:170426-1621983)x1	LOC129995588, LOC129995589 +110 more	Copy number loss	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 more	Copy number gain	See cases	GPathogenic
Select item 154994	GRCh38/hg38 6p25.3(chr6:1365202-1627578)x3	FOXC1, FOXCUT +14 more	Copy number gain	See cases	GUncertain significance
Select item 146401	GRCh38/hg38 6p25.3-25.2(chr6:1441186-2351374)x1	FOXC1, FOXCUT +19 more	Copy number loss	See cases	GPathogenic
Select item 58421	GRCh38/hg38 6p25.3-25.2(chr6:1490636-2700006)x1	FOXC1, FOXCUT +24 more	Copy number loss	See cases	GPathogenic
Select item 150317	GRCh38/hg38 6p25.3-25.2(chr6:1490637-2677489)x3	FOXC1, FOXCUT +24 more	Copy number gain	See cases	GUncertain significance
Select item 144141	GRCh38/hg38 6p25.3(chr6:1580446-1951292)x1	LOC129995604, LOC129995605 +12 more	Copy number loss	See cases	GPathogenic
Select item 58422	GRCh38/hg38 6p25.3(chr6:1605533-1739699)x1	FOXC1, FOXCUT +7 more	Copy number loss	See cases	GPathogenic
Select item 3236692	NM_001453.3(FOXC1):c.-296_*345del (p.Met1fs)	FOXC1, LOC129995600 +1 more (M1fs)	Deletion (frameshift variant +1 more)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 469647	NC_000006.12:g.(?_1610426)_(1612841_?)del	FOXC1, LOC129995601	Deletion	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 375435	NC_000006.12:g.(?_1610445)_(1612107_?)del	FOXC1, LOC129995601	Deletion	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 568112	NM_001453.3(FOXC1):c.1_*1790del (p.Met1fs)	FOXC1, LOC129995601 (M1fs)	Deletion (frameshift variant +1 more)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 3236698	NM_001453.3(FOXC1):c.235C>A (p.Pro79Thr)	FOXC1, LOC129995601 (P79T)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 3	GPathogenic
Select item 537388	NM_001453.3(FOXC1):c.235C>T (p.Pro79Ser)	FOXC1, LOC129995601 (P79S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2571241	NM_001453.3(FOXC1):c.236C>A (p.Pro79Gln)	FOXC1, LOC129995601 (P79Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3362572	NM_001453.3(FOXC1):c.240_284del (p.Tyr81_Pro95del)	FOXC1, LOC129995601	Deletion	Axenfeld-Rieger syndrome type 3	GLikely pathogenic
Select item 1693151	NM_001453.3(FOXC1):c.241T>C (p.Tyr81His)	FOXC1, LOC129995601 (Y81H)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1687309	NM_001453.3(FOXC1):c.241_243del (p.Tyr81del)	FOXC1, LOC129995601 (Y81del)	Deletion (inframe_deletion)	Anterior segment dysgenesis 3	GUncertain significance
Select item 1072188	NM_001453.3(FOXC1):c.244dup (p.Ser82fs)	FOXC1, LOC129995601 (S82fs)	Duplication (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 8458	NM_001453.3(FOXC1):c.245G>C (p.Ser82Thr)	FOXC1, LOC129995601 (S82T)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 3009097	NM_001453.3(FOXC1):c.246C>T (p.Ser82=)	FOXC1, LOC129995601	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 1251979	NM_001453.3(FOXC1):c.246C>A (p.Ser82Arg)	FOXC1, LOC129995601 (S82R)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 265158	NM_001453.3(FOXC1):c.246C>G (p.Ser82Arg)	FOXC1, LOC129995601 (S82R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2699289	NM_001453.3(FOXC1):c.249C>A (p.Tyr83Ter)	FOXC1, LOC129995601 (Y83*)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 712754	NM_001453.3(FOXC1):c.252C>T (p.Ile84=)	FOXC1, LOC129995601	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 426221	NM_001453.3(FOXC1):c.254C>T (p.Ala85Val)	FOXC1, LOC129995601 (A85V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1524543	NM_001453.3(FOXC1):c.256_267del (p.Leu86_Met89del)	FOXC1, LOC129995601	Deletion (inframe_deletion)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 265478	NM_001453.3(FOXC1):c.256C>T (p.Leu86Phe)	FOXC1, LOC129995601 (L86F)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1693152	NM_001453.3(FOXC1):c.257T>G (p.Leu86Arg)	FOXC1, LOC129995601 (L86R)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1977090	NM_001453.3(FOXC1):c.261C>T (p.Ile87=)	FOXC1, LOC129995601	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 8459	NM_001453.3(FOXC1):c.261C>G (p.Ile87Met)	FOXC1, LOC129995601 (I87M)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 3	GPathogenic
Select item 844151	NM_001453.3(FOXC1):c.262A>C (p.Thr88Pro)	FOXC1, LOC129995601 (T88P)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 167084	NM_001453.3(FOXC1):c.263C>T (p.Thr88Ile)	FOXC1, LOC129995601 (T88I)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +1 more	GConflicting classifications of pathogenicity
Select item 2190851	NM_001453.3(FOXC1):c.264C>T (p.Thr88=)	FOXC1, LOC129995601	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 375422	NM_001453.3(FOXC1):c.268G>A (p.Ala90Thr)	FOXC1, LOC129995601 (A90T)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 1693153	NM_001453.3(FOXC1):c.269C>T (p.Ala90Val)	FOXC1, LOC129995601 (A90V)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GLikely pathogenic
Select item 375423	NM_001453.3(FOXC1):c.269C>A (p.Ala90Asp)	FOXC1, LOC129995601 (A90D)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +1 more	GUncertain significance
Select item 1693139	NM_001453.3(FOXC1):c.274C>T (p.Gln92Ter)	FOXC1, LOC129995601 (Q92*)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1466390	NM_001453.3(FOXC1):c.275A>C (p.Gln92Pro)	FOXC1, LOC129995601 (Q92P)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 193206	NM_001453.3(FOXC1):c.279C>T (p.Asn93=)	FOXC1, LOC129995601	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2808326	NM_001453.3(FOXC1):c.281C>T (p.Ala94Val)	FOXC1, LOC129995601 (A94V)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 3347889	NM_001453.3(FOXC1):c.284C>G (p.Pro95Arg)	FOXC1, LOC129995601 (P95R)	Single nucleotide variant (missense variant)	FOXC1-related disorder	GUncertain significance
Select item 2703754	NM_001453.3(FOXC1):c.284C>T (p.Pro95Leu)	FOXC1, LOC129995601 (P95L)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 289288	NM_001453.3(FOXC1):c.290dup (p.Lys98fs)	FOXC1, LOC129995601 (K98fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 809858	NM_001453.3(FOXC1):c.290AGA[1] (p.Lys98del)	FOXC1, LOC129995601 (K98del)	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
Select item 2145310	NM_001453.3(FOXC1):c.297C>G (p.Ile99Met)	FOXC1, LOC129995601 (I99M)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 861432	NM_001453.3(FOXC1):c.301_331del (p.Leu101fs)	FOXC1, LOC129995601 (L101fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 744865	NM_001453.3(FOXC1):c.300C>G (p.Thr100=)	FOXC1, LOC129995601	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1658703	NM_001453.3(FOXC1):c.306C>T (p.Asn102=)	FOXC1, LOC129995601	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2112263	NM_001453.3(FOXC1):c.307G>C (p.Gly103Arg)	FOXC1, LOC129995601 (G103R)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2186242	NM_001453.3(FOXC1):c.309C>T (p.Gly103=)	FOXC1, LOC129995601	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2858932	NM_001453.3(FOXC1):c.311T>C (p.Ile104Thr)	FOXC1, LOC129995601 (I104T)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2628025	NM_001453.3(FOXC1):c.315C>G (p.Tyr105Ter)	FOXC1, LOC129995601 (Y105*)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 3	GLikely pathogenic
Select item 2420914	NM_001453.3(FOXC1):c.315C>T (p.Tyr105=)	FOXC1, LOC129995601	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 375424	NM_001453.3(FOXC1):c.316C>T (p.Gln106Ter)	FOXC1, LOC129995601 (Q106*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2768561	NM_001453.3(FOXC1):c.325A>G (p.Met109Val)	FOXC1, LOC129995601 (M109V)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 1365829	NM_001453.3(FOXC1):c.327G>A (p.Met109Ile)	FOXC1, LOC129995601 (M109I)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance

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Items: 84