LGALS4[gene] - ClinVar

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Items: 29

	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 3118470	NM_006149.4(LGALS4):c.865G>A (p.Ala289Thr)	LGALS4 (A289T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350385	NM_006149.4(LGALS4):c.851G>A (p.Arg284His)	LGALS4 (R284H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476231	NM_006149.4(LGALS4):c.819C>A (p.Phe273Leu)	LGALS4 (F273L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378400	NM_006149.4(LGALS4):c.791C>A (p.Thr264Asn)	LGALS4 (T264N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600609	NM_006149.4(LGALS4):c.730G>A (p.Gly244Ser)	LGALS4 (G244S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387178	NM_006149.4(LGALS4):c.719G>A (p.Arg240His)	LGALS4 (R240H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290521	NM_006149.4(LGALS4):c.711T>G (p.Ile237Met)	LGALS4 (I237M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118469	NM_006149.4(LGALS4):c.315C>G (p.Phe105Leu)	LGALS4 (F105L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290520	NM_006149.4(LGALS4):c.278T>C (p.Met93Thr)	LGALS4 (M93T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568720	NM_006149.4(LGALS4):c.266G>A (p.Arg89Lys)	LGALS4 (R89K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3118468	NM_006149.4(LGALS4):c.233C>T (p.Thr78Met)	LGALS4 (T78M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118467	NM_006149.4(LGALS4):c.221T>C (p.Val74Ala)	LGALS4 (V74A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276687	NM_006149.4(LGALS4):c.167C>T (p.Pro56Leu)	LGALS4 (P56L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118466	NM_006149.4(LGALS4):c.142G>A (p.Val48Met)	LGALS4 (V48M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290522	NM_006149.4(LGALS4):c.55T>G (p.Tyr19Asp)	LGALS4 (Y19D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777529	NM_006149.4(LGALS4):c.47C>T (p.Thr16Met)	LGALS4 (T16M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 712328	NM_006149.4(LGALS4):c.6C>T (p.Ala2=)	LGALS4	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	DPF1, ECH1 +34 more	Duplication	RYR1-related disorder	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 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 394968	GRCh37/hg19 19q13.2(chr19:39234888-39294200)x3	CAPN12, LGALS4 +2 more	Copy number gain	See cases	GUncertain significance
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic

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Items: 29