LGALS7[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 2649821	NM_002307.4(LGALS7):c.153C>T (p.Phe51=)	LGALS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 3024610	GRCh37/hg19 19q13.2(chr19:38909031-39308215)x3	ACTN4, CAPN12 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2424211	NC_000019.9:g.(?_39205089)_(40913839_?)dup	ACP7, ACTN4 +53 more	Duplication	not provided	GUncertain significance
Select item 2423269	NC_000019.9:g.(?_38375572)_(39738787_?)dup	RINL, RYR1 +34 more	Duplication	RYR1-Related Disorders	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 816081	GRCh37/hg19 19q13.13-13.2(chr19:38512717-39291526)x3	ACTN4, C19orf33 +18 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394968	GRCh37/hg19 19q13.2(chr19:39234888-39294200)x3	CAPN12, LGALS4 +2 more	Copy number gain	See cases	GUncertain significance
Select item 394149	GRCh37/hg19 19q13.2(chr19:39262641-39281318)x3	LGALS7, LGALS7B	Copy number gain	See cases	Gconflicting data from submitters
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic