ClinVar for Gene (Select 125177351) - ClinVar - NCBI

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Links from Gene

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	AARS1, ACD +869 more	Copy number gain	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 155326	GRCh38/hg38 16q23.1(chr16:74693100-74959509)x1	FA2H, LOC125177351 +12 more	Copy number loss	See cases	GLikely benign
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	ACD, ACSF3 +1429 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	AARS1, ADAMTS18 +572 more	Copy number gain	See cases	GPathogenic
Select item 153591	GRCh38/hg38 16q23.1(chr16:74688486-75377736)x3	BCAR1, CFDP1 +58 more	Copy number gain	See cases	GUncertain significance
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 150246	GRCh38/hg38 16q23.1(chr16:74811982-75698467)x3	ADAT1, BCAR1 +83 more	Copy number gain	See cases	GUncertain significance
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 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	LOC128772417, LOC128772418 +939 more	Copy number gain	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	LOC100129617, LOC100506281 +591 more	Copy number loss	See cases	GPathogenic
Select item 60021	GRCh38/hg38 16q23.1(chr16:74658508-75378014)x3	BCAR1, CFDP1 +60 more	Copy number gain	See cases	GUncertain significance
Select item 59996	GRCh38/hg38 16q22.3-23.1(chr16:73917167-75319927)x3	BCAR1, CFDP1 +75 more	Copy number gain	See cases	GUncertain significance
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	ADAMTS18, ADAT1 +360 more	Copy number loss	See cases	GPathogenic
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	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