LGALS16[gene] - ClinVar

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

Search results

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +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 2241837	NM_001190441.3(LGALS16):c.20C>T (p.Pro7Leu)	LGALS16 (P7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249788	NM_001190441.3(LGALS16):c.58G>A (p.Val20Met)	LGALS16 (V20M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457540	NM_001190441.3(LGALS16):c.97G>A (p.Glu33Lys)	LGALS16 (E33K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331343	NM_001190441.3(LGALS16):c.139G>A (p.Asp47Asn)	LGALS16 (D47N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290508	NM_001190441.3(LGALS16):c.182G>A (p.Arg61His)	LGALS16 (R61H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399267	NM_001190441.3(LGALS16):c.200G>A (p.Arg67His)	LGALS16 (R67H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290510	NM_001190441.3(LGALS16):c.214T>C (p.Trp72Arg)	LGALS16 (W72R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219817	NM_001190441.3(LGALS16):c.274C>T (p.Arg92Cys)	LGALS16 (R92C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284940	NM_001190441.3(LGALS16):c.277A>G (p.Ile93Val)	LGALS16 (I93V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118448	NM_001190441.3(LGALS16):c.283G>A (p.Val95Met)	LGALS16 (V95M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597133	NM_001190441.3(LGALS16):c.326T>C (p.Ile109Thr)	LGALS16 (I109T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290509	NM_001190441.3(LGALS16):c.331G>A (p.Ala111Thr)	LGALS16 (A111T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290511	NM_001190441.3(LGALS16):c.341A>G (p.His114Arg)	LGALS16 (H114R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405304	NM_001190441.3(LGALS16):c.350C>T (p.Pro117Leu)	LGALS16 (P117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393428	NM_001190441.3(LGALS16):c.367A>C (p.Met123Leu)	LGALS16 (M123L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561112	NM_001190441.3(LGALS16):c.421C>T (p.Arg141Trp)	LGALS16 (R141W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2424211	NC_000019.9:g.(?_39205089)_(40913839_?)dup	ACP7, ACTN4 +53 more	Duplication	not provided	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	TWIST1-related craniosynostosis +3 more	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 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 564578	GRCh37/hg19 19q13.2(chr19:40129200-40216211)x1	LGALS16, LGALS14	Copy number loss	not provided	GLikely benign
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	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: 27