FGL2[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic
Select item 155387	GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)	ABHD11, ABHD11-AS1 +285 more	Copy number gain	See cases	GLikely pathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 154313	GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1	APTR, CACNA2D1 +194 more	Copy number loss	See cases	GPathogenic
Select item 1342322	NC_000007.14:g.(75058300_?)_(?_79083658)del	APTR, CCDC146 +126 more	Deletion	Distal 7q11.23 microdeletion syndrome	GPathogenic
Select item 60279	GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1	APTR, CCDC146 +109 more	Copy number loss	See cases	GPathogenic
Select item 148376	GRCh38/hg38 7q11.23-21.11(chr7:76440557-78180243)x3	APTR, CCDC146 +45 more	Copy number gain	See cases	GUncertain significance
Select item 2314661	NM_006682.3(FGL2):c.1090G>T (p.Asp364Tyr)	CCDC146, FGL2 (D364Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496411	NM_006682.3(FGL2):c.818C>G (p.Ala273Gly)	CCDC146, FGL2 (A273G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094861	NM_006682.3(FGL2):c.652G>A (p.Ala218Thr)	CCDC146, FGL2 (A218T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3065177	NM_006682.3(FGL2):c.614_617del (p.Val205fs)	CCDC146, FGL2 (V205fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2376089	NM_006682.3(FGL2):c.610C>G (p.Pro204Ala)	CCDC146, FGL2 (P204A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317833	NM_006682.3(FGL2):c.595C>G (p.Gln199Glu)	CCDC146, FGL2 (Q199E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244867	NM_006682.3(FGL2):c.517G>T (p.Val173Phe)	CCDC146, FGL2 (V173F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560198	NM_006682.3(FGL2):c.292G>C (p.Asp98His)	CCDC146, FGL2 +1 more (D98H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094859	NM_006682.3(FGL2):c.265G>A (p.Val89Ile)	CCDC146, FGL2 (V89I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685250	GRCh37/hg19 7q11.23(chr7:76825702-76901941)x1	CCDC146, FGL2	Copy number loss	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 980830	GRCh37/hg19 7q11.23(chr7:76696035-76849523)x1	CCDC146, FGL2	Copy number loss	not provided	GLikely benign
Select item 814995	GRCh37/hg19 7q11.23(chr7:76784372-77199666)x3	FGL2, PTPN12 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 29