ClinVar for Gene (Select 387763) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1707462	Single allele	ACCS, ACCSL +63 more	Duplication	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703555	GRCh37/hg19 11p11.2(chr11:43769957-44952669)	ACCS, ACCSL +7 more	Copy number loss	Potocki-Shaffer syndrome	GPathogenic
Select item 1340048	GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1	ACCS, ACCSL +33 more	Copy number loss	not provided	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979923	GRCh37/hg19 11p12-11.2(chr11:43223479-44266544)x3	ALKBH3, API5 +6 more	Copy number gain	not provided	GUncertain significance
Select item 815430	GRCh37/hg19 11p11.2(chr11:43757860-44118731)x3	HSD17B12, EXT2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 815429	GRCh37/hg19 11p11.2(chr11:43664817-44889240)x3	CD82, C11orf96 +7 more	Copy number gain	not provided	GUncertain significance
Select item 685774	GRCh37/hg19 11p11.2(chr11:43732634-43973830)x1	ALKBH3, C11orf96 +1 more	Copy number loss	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	B3GAT3, B3GNT6 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	PTPMT1, PTPN5 +1289 more	Copy number gain	See cases	GPathogenic
Select item 154372	GRCh38/hg38 11p12-11.2(chr11:39684826-44845260)x1	ACCS, ACCSL +71 more	Copy number loss	See cases	GPathogenic
Select item 154181	GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1	LOC130005592, LOC130005593 +111 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +254 more	Copy number gain	See cases	GLikely pathogenic
Select item 149051	GRCh38/hg38 11p12-11.2(chr11:40688674-44184136)x3	ACCS, ACCSL +42 more	Copy number gain	See cases	GLikely pathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +264 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	LOC130005585, LOC130005586 +258 more	Copy number loss	See cases	GPathogenic
Select item 144293	GRCh38/hg38 11p12-11.2(chr11:40688674-44913409)x3	ACCS, ACCSL +73 more	Copy number gain	See cases	GUncertain significance
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	LOC130005622, LOC130005623 +224 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 20