FREY1[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	LOC130005622, LOC130005623 +224 more	Copy number loss	See cases	GPathogenic
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 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 58891	GRCh38/hg38 11p11.2(chr11:44136593-46121139)x1	ALX4, CD82 +78 more	Copy number loss	See cases	GPathogenic
Select item 3096859	NM_001080446.3(FREY1):c.281A>G (p.Tyr94Cys)	FREY1 (Y94C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641735	NM_001080446.3(FREY1):c.124G>C (p.Ala42Pro)	FREY1 (A42P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3096860	NM_001080446.3(FREY1):c.94C>A (p.Pro32Thr)	FREY1 (P32T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063195	GRCh37/hg19 11p11.2(chr11:45810101-45930554)x3	CRY2, FREY1 +2 more	Copy number gain	not specified	GUncertain significance
Select item 2684643	GRCh37/hg19 11p11.2(chr11:45804897-45930554)x3	CRY2, FREY1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2426467	NC_000011.9:g.(?_45827353)_(47804770_?)del	ACP2, AGBL2 +40 more	Deletion	Leukocyte adhesion deficiency type II	GPathogenic
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 1483268	NC_000011.9:g.(?_45827353)_(45932533_?)dup	CRY2, FREY1 +3 more	Duplication	Peroxisome biogenesis disorder	GUncertain significance
Select item 1457696	NC_000011.9:g.(?_45827353)_(46401497_?)del	CREB3L1, CRY2 +7 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 1000344	NC_000011.9:g.(?_45827353)_(47804770_?)dup	F2, FAM180B +40 more	Duplication	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 832501	NC_000011.10:g.(?_45805782)_(45910982_?)dup	MAPK8IP1, CRY2 +3 more	Duplication	Leukocyte adhesion deficiency type II	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

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Items: 21