ClinVar for Gene (Select 29124) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3118444	NM_013268.3(LGALS13):c.50G>A (p.Gly17Asp)	LGALS13 (G17D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118443	NM_013268.3(LGALS13):c.283G>A (p.Val95Ile)	LGALS13 (V95I)	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 2508916	NM_013268.3(LGALS13):c.12A>C (p.Leu4Phe)	LGALS13 (L4F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473410	NM_013268.3(LGALS13):c.244C>T (p.Pro82Ser)	LGALS13 (P82S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2374710	NM_013268.3(LGALS13):c.389T>A (p.Ile130Asn)	LGALS13 (I130N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336677	NM_013268.3(LGALS13):c.29T>G (p.Leu10Arg)	LGALS13 (L10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264977	NM_013268.3(LGALS13):c.224A>G (p.Glu75Gly)	LGALS13 (E75G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247117	NM_013268.3(LGALS13):c.265T>C (p.Phe89Leu)	LGALS13 (F89L)	Single nucleotide variant (missense variant)	not specified	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 789349	NM_013268.3(LGALS13):c.344G>A (p.Arg115Gln)	LGALS13 (R115Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic
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