133491[Gene ID] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 58395	GRCh38/hg38 5q35.1-35.2(chr5:172776798-174342969)x1	ATP6V0E1, BNIP1 +91 more	Copy number loss	See cases	GPathogenic
Select item 58396	GRCh38/hg38 5q35.1-35.2(chr5:172961091-175054665)x1	ATP6V0E1, BNIP1 +81 more	Copy number loss	See cases	GPathogenic
Select item 154580	GRCh38/hg38 5q35.1-35.2(chr5:173237772-176614618)x3	ARL10, BOD1 +131 more	Copy number gain	See cases	GPathogenic
Select item 146333	GRCh38/hg38 5q35.2(chr5:173949773-174900395)x1	C5orf47, CPEB4 +16 more	Copy number loss	See cases	GPathogenic
Select item 2225244	NM_001144954.2(C5orf47):c.214G>A (p.Gly72Ser)	C5orf47 (G72S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685185	GRCh37/hg19 5q35.2(chr5:173430818-173535044)x1	C5orf47	Copy number loss	not provided	GUncertain significance
Select item 2685184	GRCh37/hg19 5q35.1-35.2(chr5:171836503-176517734)x1	ARL10, ATP6V0E1 +37 more	Copy number loss	not provided	GPathogenic
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 221449	GRCh37/hg19 5q35.2(chr5:173043321-174953690)x3	CPEB4, DRD1 +4 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 21