LOC129995600[gene] - ClinVar

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Items: 45

	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

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Items: 45