ClinVar for Gene (Select 8543) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3290978	NM_006769.4(LMO4):c.467A>G (p.Asn156Ser)	LMO4 (N156S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119357	NM_006769.4(LMO4):c.356G>A (p.Arg119Gln)	LMO4 (R119Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685499	GRCh37/hg19 1p22.3-22.2(chr1:87511398-90730302)x1	GBP1, GBP2 +15 more	Copy number loss	not provided	GUncertain significance
Select item 2596961	NM_006769.4(LMO4):c.440A>G (p.Asn147Ser)	LMO4 (N147S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507629	NM_006769.4(LMO4):c.317A>G (p.Asn106Ser)	LMO4 (N106S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316917	NM_006769.4(LMO4):c.200A>G (p.Lys67Arg)	LMO4 (K67R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283946	NM_006769.4(LMO4):c.91G>T (p.Ala31Ser)	LMO4 (A31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258142	NM_006769.4(LMO4):c.232A>G (p.Ile78Val)	LMO4 (I78V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 979897	GRCh37/hg19 1p31.1-22.2(chr1:80804502-89490384)x3	LMO4, CLCA4 +33 more	Copy number gain	not provided	GLikely pathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic
Select item 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 more	Copy number loss	See cases	GPathogenic
Select item 149325	GRCh38/hg38 1p22.3-22.2(chr1:86228890-88466303)x1	CLCA1, CLCA2 +47 more	Copy number loss	See cases	GUncertain significance
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic