LGALS9[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60137	GRCh38/hg38 17q11.2(chr17:27627733-28118935)x3	LGALS9, LINC01992 +18 more	Copy number gain	See cases	GUncertain significance
Select item 3118484	NM_009587.3(LGALS9):c.12C>A (p.Ser4Arg)	LGALS9 (S4R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118485	NM_009587.3(LGALS9):c.22G>A (p.Ala8Thr)	LGALS9 (A8T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559801	NM_009587.3(LGALS9):c.22G>T (p.Ala8Ser)	LGALS9 (A8S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570432	NM_009587.3(LGALS9):c.94A>T (p.Thr32Ser)	LGALS9 (T32S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299181	NM_009587.3(LGALS9):c.214G>A (p.Val72Met)	LGALS9 (V72M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280492	NM_009587.3(LGALS9):c.226A>G (p.Thr76Ala)	LGALS9 (T76A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617009	NM_009587.3(LGALS9):c.227C>T (p.Thr76Met)	LGALS9 (T76M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509594	NM_009587.3(LGALS9):c.233A>C (p.Gln78Pro)	LGALS9 (Q78P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525679	NM_009587.3(LGALS9):c.253G>A (p.Glu85Lys)	LGALS9 (E85K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344462	NM_009587.3(LGALS9):c.292C>T (p.Pro98Ser)	LGALS9 (P98S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118486	NM_009587.3(LGALS9):c.374G>A (p.Arg125His)	LGALS9 (R125H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365255	NM_009587.3(LGALS9):c.389G>A (p.Arg130His)	LGALS9 (R130H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118487	NM_009587.3(LGALS9):c.428C>T (p.Ser143Phe)	LGALS9 (S143F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512409	NM_009587.3(LGALS9):c.499C>T (p.Pro167Ser)	LGALS9 (P167S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359789	NM_009587.3(LGALS9):c.529C>T (p.Arg177Cys)	LGALS9 (R177C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206254	NM_009587.3(LGALS9):c.566C>T (p.Pro189Leu)	LGALS9 (P157L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118488	NM_009587.3(LGALS9):c.574A>T (p.Ile192Phe)	LGALS9 (I160F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118489	NM_009587.3(LGALS9):c.595A>T (p.Thr199Ser)	LGALS9 (T199S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317312	NM_009587.3(LGALS9):c.632C>A (p.Pro211His)	LGALS9 (P179H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239535	NM_009587.3(LGALS9):c.671C>T (p.Pro224Leu)	LGALS9 (P192L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556692	NM_009587.3(LGALS9):c.749G>T (p.Ser250Ile)	LGALS9 (S218I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 223125	NC_000017.11:g.(?_27647231)_(27748498_?)del	LGALS9	Deletion	Autism spectrum disorder +1 more	GUncertain significance
Select item 2592255	NM_009587.3(LGALS9):c.850G>A (p.Asp284Asn)	LGALS9 (D252N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3118491	NM_009587.3(LGALS9):c.857C>T (p.Ser286Phe)	LGALS9 (S254F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2365046	NM_009587.3(LGALS9):c.871G>A (p.Glu291Lys)	LGALS9 (E259K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2350359	NM_009587.3(LGALS9):c.887G>A (p.Arg296Gln)	LGALS9 (R264Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3118492	NM_009587.3(LGALS9):c.904C>T (p.Arg302Cys)	LGALS9 (R302C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 771492	NM_009587.3(LGALS9):c.905G>A (p.Arg302His)	LGALS9 (R270H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2358121	NM_009587.3(LGALS9):c.939A>C (p.Glu313Asp)	LGALS9 (K227T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2528365	NM_009587.3(LGALS9):c.961G>A (p.Val321Met)	LGALS9 (V289M +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3118493	NM_009587.3(LGALS9):c.968G>A (p.Gly323Asp)	LGALS9 (V237I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287177	NM_009587.3(LGALS9):c.976C>G (p.Leu326Val)	LGALS9 (L294V +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2280628	NM_009587.3(LGALS9):c.995G>A (p.Arg332His)	LGALS9 (A246T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118483	NM_009587.3(LGALS9):c.1025T>C (p.Leu342Pro)	LGALS9 (L310P +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2580348	GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3	FAM222B, FLOT2 +41 more	Copy number gain	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 1526572	GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	ABHD15, ALDOC +49 more	Copy number gain	not specified	GPathogenic
Select item 1341051	GRCh37/hg19 17q11.1-11.2(chr17:25761228-26385329)x3	NOS2, NLK +3 more	Copy number gain	not provided	GUncertain significance
Select item 1340451	GRCh37/hg19 17q11.1-11.2(chr17:25439781-26267997)x3	KSR1, LGALS9 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815920	GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3	ABHD15, ALDOC +49 more	Copy number gain	not provided	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 564423	GRCh37/hg19 17q11.2(chr17:25960736-26075070)x1	LGALS9	Copy number loss	not provided	GUncertain significance
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441603	GRCh37/hg19 17q11.1-11.2(chr17:25270398-26075070)x3	KSR1, LGALS9 +1 more	Copy number gain	See cases	GLikely benign
Select item 394501	GRCh37/hg19 17q11.2(chr17:25958205-26093532)x3	LGALS9, NOS2	Copy number gain	See cases	GBenign/Likely benign
Select item 253865	GRCh37/hg19 17p11.2-q11.2(chr17:21308559-26655801)x3	MTRNR2L1, TMEM97 +9 more	Copy number gain	See cases	GUncertain significance
Select item 226262	GRCh37/hg19 17q11.2(chr17:25972552-26066964)	LGALS9	Copy number loss	Abnormal esophagus morphology	GLikely benign

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Items: 50