LOC130058630[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 151527	GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3	APOBR, AQP8 +287 more	Copy number gain	See cases	GLikely pathogenic
Select item 58086	GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3	LOC130058727, LOC130058728 +287 more	Copy number gain	See cases	GPathogenic
Select item 58734	GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1	AQP8, ARHGAP17 +209 more	Copy number loss	See cases	GPathogenic
Select item 58099	GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	OTOA, PALB2 +280 more	Copy number gain	See cases	GPathogenic
Select item 148674	GRCh38/hg38 16p12.2(chr16:21717046-22634444)x3	CDR2, CDR2-DT +40 more	Copy number gain	See cases	GUncertain significance
Select item 154236	GRCh38/hg38 16p12.2(chr16:21750083-22430686)x1	CDR2, CDR2-DT +37 more	Copy number loss	See cases	GUncertain significance
Select item 153646	GRCh38/hg38 16p12.2(chr16:21750083-22420036)x1	CDR2, CDR2-DT +37 more	Copy number loss	See cases	GUncertain significance
Select item 149749	GRCh38/hg38 16p12.2(chr16:21786451-22547506)x3	CDR2, CDR2-DT +38 more	Copy number gain	See cases	GUncertain significance
Select item 155340	GRCh38/hg38 16p12.2(chr16:21790568-22430686)x1	CDR2, CDR2-DT +36 more	Copy number loss	See cases	GUncertain significance
Select item 153825	GRCh38/hg38 16p12.2(chr16:21790568-22420036)x1	CDR2, CDR2-DT +36 more	Copy number loss	See cases	GUncertain significance
Select item 151183	GRCh38/hg38 16p12.2(chr16:21790568-22699293)x1	CDR2, CDR2-DT +40 more	Copy number loss	See cases	GUncertain significance
Select item 57550	GRCh38/hg38 16p12.2(chr16:21794978-22396610)x1	CDR2, CDR2-DT +36 more	Copy number loss	See cases	GUncertain significance
Select item 56991	GRCh38/hg38 16p12.2(chr16:21825971-22396751)x1	CDR2, CDR2-DT +36 more	Copy number loss	See cases	GBenign
Select item 160945	GRCh38/hg38 16p12.2(chr16:21826171-22358401)x3	CDR2, EEF2K +32 more	Copy number gain	See cases	GUncertain significance
Select item 160908	GRCh38/hg38 16p12.2(chr16:21826171-22396610)x1	CDR2, CDR2-DT +36 more	Copy number loss	See cases	GUncertain significance
Select item 148730	GRCh38/hg38 16p12.2(chr16:21826171-22436900)x3	CDR2, CDR2-DT +36 more	Copy number gain	See cases	GUncertain significance
Select item 146090	GRCh38/hg38 16p12.2(chr16:21826171-22358401)x1	CDR2, EEF2K +32 more	Copy number loss	See cases	GUncertain significance
Select item 57551	GRCh38/hg38 16p12.2(chr16:21826171-22634444)x1	CDR2, CDR2-DT +39 more	Copy number loss	See cases	GUncertain significance
Select item 34545	GRCh38/hg38 16p12.2(chr16:21826171-22396610)x3	CDR2, CDR2-DT +36 more	Copy number gain	See cases	GUncertain significance
Select item 32255	GRCh38/hg38 16p12.2(chr16:21826171-22396610)x1	CDR2, CDR2-DT +36 more	Copy number loss	See cases	GUncertain significance; Pathogenic/Likely pathogenic
Select item 146738	GRCh38/hg38 16p12.2(chr16:21827098-22396630)x1	CDR2, CDR2-DT +36 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 155398	GRCh38/hg38 16p12.2(chr16:21919927-22420036)x1	CDR2, CDR2-DT +35 more	Copy number loss	See cases	GUncertain significance
Select item 153492	GRCh38/hg38 16p12.2(chr16:21919927-22430686)x1	CDR2-DT, LOC105371129 +35 more	Copy number loss	See cases	GUncertain significance
Select item 545196	Single allele	LOC130058635, LOC130058646 +35 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545195	Single allele	LOC130058632, LOC130058633 +35 more	Duplication	Autism	GLikely pathogenic
Select item 545194	NC_000016.10:g.(?_21928119)_(22428075_?)del	CDR2, CDR2-DT +35 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 155216	GRCh38/hg38 16p12.2(chr16:21935201-22430686)x1	CDR2, CDR2-DT +35 more	Copy number loss	See cases	GUncertain significance
Select item 1684662	NC_000016.10:g.21936825_22429665del	LOC130058632, LOC130058633 +35 more	Deletion	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
Select item 152022	GRCh38/hg38 16p12.2(chr16:21940058-22436900)x1	CDR2, CDR2-DT +35 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 57552	GRCh38/hg38 16p12.2(chr16:21940058-22396610)x1	CDR2, CDR2-DT +35 more	Copy number loss	See cases	GUncertain significance
Select item 144535	GRCh38/hg38 16p12.2(chr16:21948629-22396630)x1	CDR2, CDR2-DT +35 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 560056	Single allele	CDR2, CDR2-DT +34 more	Deletion	not provided	GUncertain significance
Select item 57560	GRCh38/hg38 16p12.2(chr16:21973700-22396610)x1	CDR2, CDR2-DT +34 more	Copy number loss	See cases	GUncertain significance

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Items: 35