LOC130058948[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	CFAP20, LOC101927556 +520 more	Duplication	not provided	GPathogenic
Select item 148231	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52422170)x1	ABCC11, ABCC12 +211 more	Copy number loss	See cases	GPathogenic
Select item 148087	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52355793)x3	CNEP1R1, CYLD +210 more	Copy number gain	See cases	GPathogenic
Select item 59468	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1	ABCC11, ABCC12 +203 more	Copy number loss	See cases	GPathogenic
Select item 59467	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1	C16orf78, HNRNPA1L3 +205 more	Copy number loss	See cases	GPathogenic
Select item 59486	GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1	LOC130058939, LOC130058940 +210 more	Copy number loss	See cases	GPathogenic
Select item 150305	GRCh38/hg38 16q12.1(chr16:47193875-47612192)x1	ITFG1, LOC112449713 +4 more	Copy number loss	See cases	GUncertain significance
Select item 154127	GRCh38/hg38 16q12.1(chr16:47224376-47628637)x1	ITFG1, LOC112449713 +4 more	Copy number loss	See cases	GLikely benign
Select item 59487	GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1	ABCC11, ABCC12 +211 more	Copy number loss	See cases	GPathogenic
Select item 154519	GRCh38/hg38 16q12.1(chr16:47320682-47525728)x1	ITFG1, LOC112449713 +3 more	Copy number loss	See cases	GUncertain significance