2296[geneid] - ClinVar - NCBI

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	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 3029215	NM_001453.3(FOXC1):c.-437C>G	FOXC1, LOC129995600	Single nucleotide variant (5 prime UTR variant)	FOXC1-related disorder	GLikely benign
Select item 3031218	NM_001453.3(FOXC1):c.-435C>G	FOXC1, LOC129995600	Single nucleotide variant (5 prime UTR variant)	FOXC1-related disorder	GLikely benign
Select item 3031842	NM_001453.3(FOXC1):c.-433C>G	FOXC1, LOC129995600	Single nucleotide variant (5 prime UTR variant)	FOXC1-related disorder	GLikely benign
Select item 1229415	NM_001453.3(FOXC1):c.-418_-417del	FOXC1, LOC129995600	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 1220557	NM_001453.3(FOXC1):c.-417del	FOXC1, LOC129995600	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 183251	NM_001453.3(FOXC1):c.-429C>G	FOXC1, LOC129995600	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2503306	NM_001453.3(FOXC1):c.-303C>T	FOXC1, LOC129995600	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
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 1175413	NM_001453.3(FOXC1):c.-244C>G	FOXC1, LOC129995600	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 183250	NM_001453.3(FOXC1):c.-244C>T	FOXC1, LOC129995600	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
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 1687317	NM_001453.3(FOXC1):c.4C>T (p.Gln2Ter)	FOXC1 (Q2*)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 3	GLikely pathogenic
Select item 1673473	NM_001453.3(FOXC1):c.9G>T (p.Ala3=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 2162400	NM_001453.3(FOXC1):c.18C>T (p.Ser6=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 1569289	NM_001453.3(FOXC1):c.18C>G (p.Ser6=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 817017	NM_001453.3(FOXC1):c.20dup (p.Ser8fs)	FOXC1 (S8fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 747195	NM_001453.3(FOXC1):c.24C>T (p.Ser8=)	FOXC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919444	NM_001453.3(FOXC1):c.27C>T (p.Ser9=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 1398433	NM_001453.3(FOXC1):c.32A>G (p.Asn11Ser)	FOXC1 (N11S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2802857	NM_001453.3(FOXC1):c.34T>A (p.Ser12Thr)	FOXC1 (S12T)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 3279511	NM_001453.3(FOXC1):c.35C>T (p.Ser12Phe)	FOXC1 (S12F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2025489	NM_001453.3(FOXC1):c.36C>G (p.Ser12=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 1481297	NM_001453.3(FOXC1):c.37C>G (p.Leu13Val)	FOXC1 (L13V)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 591840	NM_001453.3(FOXC1):c.38T>G (p.Leu13Arg)	FOXC1 (L13R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2804282	NM_001453.3(FOXC1):c.39G>A (p.Leu13=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2065703	NM_001453.3(FOXC1):c.41G>A (p.Gly14Glu)	FOXC1 (G14E)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2983621	NM_001453.3(FOXC1):c.49C>T (p.Pro17Ser)	FOXC1 (P17S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 1071356	NM_001453.3(FOXC1):c.51del (p.Tyr18fs)	FOXC1 (Y18fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 2682915	NM_001453.3(FOXC1):c.55C>T (p.Leu19Phe)	FOXC1 (L19F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2177605	NM_001453.3(FOXC1):c.58G>A (p.Gly20Ser)	FOXC1 (G20S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 1377970	NM_001453.3(FOXC1):c.61G>T (p.Gly21Cys)	FOXC1 (G21C)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 1693137	NM_001453.3(FOXC1):c.65dup (p.Gln23fs)	FOXC1 (Q23fs)	Duplication (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 8455	NM_001453.3(FOXC1):c.67C>T (p.Gln23Ter)	FOXC1 (Q23*)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1073152	NM_001453.3(FOXC1):c.81_100del (p.Ala28fs)	FOXC1 (A28fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 193208	NM_001453.3(FOXC1):c.78C>T (p.Tyr26=)	FOXC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 469652	NM_001453.3(FOXC1):c.83CGGCGGCCG[1] (p.Ala31_Ala33del)	FOXC1	Microsatellite (inframe_deletion)	not specified +2 more	GBenign/Likely benign
Select item 2582224	NM_001453.3(FOXC1):c.90del (p.Ala31fs)	FOXC1 (A31fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 973775	NM_001453.3(FOXC1):c.89C>T (p.Ala30Val)	FOXC1 (A30V)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 3	GUncertain significance
Select item 1572538	NM_001453.3(FOXC1):c.90C>G (p.Ala30=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 1698748	NM_001453.3(FOXC1):c.99_108del (p.Gly34fs)	FOXC1 (G34fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 3096273	NM_001453.3(FOXC1):c.94G>A (p.Ala32Thr)	FOXC1 (A32T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611060	NM_001453.3(FOXC1):c.98C>T (p.Ala33Val)	FOXC1 (A33V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2755662	NM_001453.3(FOXC1):c.104del (p.Gly35fs)	FOXC1 (G35fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 375420	NM_001453.3(FOXC1):c.100_109del (p.Gly34fs)	FOXC1 (G34fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1420784	NM_001453.3(FOXC1):c.103G>A (p.Gly35Ser)	FOXC1 (G35S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2635518	NM_001453.3(FOXC1):c.104_105delinsT (p.Gly35fs)	FOXC1 (G35fs)	Indel (frameshift variant)	FOXC1-related disorder	GLikely pathogenic
Select item 2017556	NM_001453.3(FOXC1):c.104_105insT (p.Gly36fs)	FOXC1 (G36fs)	Insertion (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1942057	NM_001453.3(FOXC1):c.105C>T (p.Gly35=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 1925528	NM_001453.3(FOXC1):c.107G>A (p.Gly36Asp)	FOXC1 (G36D)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2713006	NM_001453.3(FOXC1):c.108C>G (p.Gly36=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 375421	NM_001453.3(FOXC1):c.116_123del (p.Ala39fs)	FOXC1 (A39fs)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 286637	NM_001453.3(FOXC1):c.114C>T (p.Thr38=)	FOXC1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2049419	NM_001453.3(FOXC1):c.115G>T (p.Ala39Ser)	FOXC1 (A39S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +1 more	GUncertain significance
Select item 2024317	NM_001453.3(FOXC1):c.122C>G (p.Pro41Arg)	FOXC1 (P41R)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 3096269	NM_001453.3(FOXC1):c.125C>T (p.Ala42Val)	FOXC1 (A42V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2822575	NM_001453.3(FOXC1):c.129C>T (p.Pro43=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 2024333	NM_001453.3(FOXC1):c.135dup (p.Val46fs)	FOXC1 (V46fs)	Duplication (frameshift variant)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1975777	NM_001453.3(FOXC1):c.134G>A (p.Ser45Asn)	FOXC1 (S45N)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3	GUncertain significance
Select item 100687	NM_001453.3(FOXC1):c.141C>G (p.Tyr47Ter)	FOXC1 (Y47*)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1458299	NM_001453.3(FOXC1):c.143C>A (p.Ser48Ter)	FOXC1 (S48*)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 705710	NM_001453.3(FOXC1):c.144G>T (p.Ser48=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3	GLikely benign
Select item 501247	NM_001453.3(FOXC1):c.147C>T (p.His49=)	FOXC1	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 3 +1 more	GConflicting classifications of pathogenicity
Select item 2161709	NM_001453.3(FOXC1):c.148C>T (p.Pro50Ser)	FOXC1 (P50S)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 3 +1 more	GUncertain significance

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