ClinVar for Gene (Select 123575645) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2583165	Single allele	LINC02521, LINC02525 +140 more	Inversion	Anophthalmia-microphthalmia syndrome	GLikely pathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	LOC129995520, LOC129995521 +610 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC121106426, LOC121113497 +557 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 155308	GRCh38/hg38 6p25.3-25.1(chr6:156974-4946857)x3	BPHL, C6orf201 +255 more	Copy number gain	See cases	GUncertain significance
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC132089500, LOC132090749 +641 more	Copy number gain	See cases	GPathogenic
Select item 154849	GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1	BPHL, C6orf201 +312 more	Copy number loss	See cases	GPathogenic
Select item 154201	GRCh38/hg38 6p25.3-25.1(chr6:156974-4907692)x1	LOC121740636, LOC121740637 +255 more	Copy number loss	See cases	GPathogenic
Select item 154194	GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1	LOC123575649, LOC123575650 +345 more	Copy number loss	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	LINC02521, LINC02522 +508 more	Copy number gain	See cases	GLikely pathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	LOC129995714, LOC129995715 +777 more	Copy number gain	See cases	GPathogenic
Select item 149755	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x1	BPHL, C6orf201 +307 more	Copy number loss	See cases	GPathogenic
Select item 149754	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x3	LOC129995684, LOC129995685 +307 more	Copy number gain	See cases	GLikely pathogenic
Select item 149126	GRCh38/hg38 6p25.3-25.2(chr6:163083-3459607)x1	BPHL, DUSP22 +211 more	Copy number loss	See cases	GPathogenic
Select item 148422	GRCh38/hg38 6p25.3-25.1(chr6:152634-5315679)x1	LOC129995551, LOC129995552 +287 more	Copy number loss	See cases	GPathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	BLOC1S5, BLOC1S5-TXNDC5 +435 more	Copy number gain	See cases	GPathogenic
Select item 145534	GRCh38/hg38 6p25.2(chr6:2380066-3313353)x3	BPHL, GMDS-DT +76 more	Copy number gain	See cases	GUncertain significance
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995778, LOC129995779 +571 more	Copy number gain	See cases	GPathogenic
Select item 59496	GRCh38/hg38 6p25.3-25.2(chr6:1796838-2854327)x3	GMDS, GMDS-DT +28 more	Copy number gain	See cases	GUncertain significance
Select item 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	LOC126859546, LOC126859547 +431 more	Copy number loss	See cases	GPathogenic
Select item 58410	GRCh38/hg38 6p25.3-25.1(chr6:164633-5823601)x1	BPHL, C6orf201 +300 more	Copy number loss	See cases	GPathogenic
Select item 58409	GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1	LOC129995595, LOC129995596 +310 more	Copy number loss	See cases	GPathogenic
Select item 58407	GRCh38/hg38 6p25.3-25.1(chr6:163083-5875402)x1	LOC129389427, LOC129389428 +301 more	Copy number loss	See cases	GPathogenic
Select item 58405	GRCh38/hg38 6p25.3-25.1(chr6:107682-4978781)x1	BPHL, C6orf201 +258 more	Copy number loss	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	LOC129995630, LOC129995631 +536 more	Copy number gain	See cases	GPathogenic
Select item 58125	GRCh38/hg38 6p25.3-25.1(chr6:144957-5239181)x3	BPHL, C6orf201 +279 more	Copy number gain	See cases	GPathogenic
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	LINC02522, LINC02525 +823 more	Copy number gain	See cases	GPathogenic
Select item 57077	GRCh38/hg38 6p25.3-25.1(chr6:163083-6062800)x1	LOC126859547, LOC126859548 +305 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 28