ClinVar for Gene (Select 125177390) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 155590	GRCh38/hg38 16q24.2(chr16:87267492-87780225)x1	C16orf95, C16orf95-DT +33 more	Copy number loss	See cases	GUncertain significance
Select item 155557	GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1	ACSF3, ANKRD11 +210 more	Copy number loss	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154655	GRCh38/hg38 16q24.2(chr16:87382052-87766879)x1	FBXO31, JPH3 +29 more	Copy number loss	See cases	GUncertain significance
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	ACSF3, ADAD2 +691 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	ACD, ACSF3 +1429 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	ACSF3, ADAD2 +788 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	ACSF3, ADAD2 +677 more	Copy number gain	See cases	GPathogenic
Select item 151023	GRCh38/hg38 16q24.2(chr16:87038922-87766879)x1	C16orf95, C16orf95-DT +39 more	Copy number loss	See cases	GUncertain significance
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC400553, LOC654780 +832 more	Copy number gain	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	LOC130059799, LOC130059800 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	ACSF3, ADAD2 +1031 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +670 more	Copy number gain	See cases	GPathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 146319	GRCh38/hg38 16q24.2(chr16:87223779-87853460)x1	C16orf95, C16orf95-DT +46 more	Copy number loss	See cases	GUncertain significance
Select item 146290	GRCh38/hg38 16q24.2(chr16:87150123-87812135)x1	C16orf95, C16orf95-DT +42 more	Copy number loss	See cases	GLikely pathogenic
Select item 145626	GRCh38/hg38 16q24.1-24.2(chr16:86672163-87766879)x1	C16orf95, C16orf95-DT +44 more	Copy number loss	See cases	GLikely pathogenic
Select item 59520	GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1	ACSF3, ANKRD11 +196 more	Copy number loss	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	ADAD2, ARLNC1 +447 more	Copy number loss	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LINC00917, LINC01081 +566 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC130059153, LOC130059154 +1426 more	Copy number gain	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	ACSF3, ADAD2 +719 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 27