LRRC38[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 153434	GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3	AADACL3, AADACL4 +209 more	Copy number gain	See cases	GLikely pathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 148967	GRCh38/hg38 1p36.21(chr1:12627415-13993978)x3	AADACL3, AADACL4 +49 more	Copy number gain	See cases	GLikely pathogenic
Select item 148652	GRCh38/hg38 1p36.21-36.13(chr1:12724785-16034788)x1	AADACL3, AGMAT +151 more	Copy number loss	See cases	GPathogenic
Select item 149960	GRCh38/hg38 1p36.21(chr1:13400935-15356944)x1	FHAD1, FHAD1-AS1 +55 more	Copy number loss	See cases	GLikely pathogenic
Select item 2347488	NM_001010847.2(LRRC38):c.868G>A (p.Glu290Lys)	LRRC38 (E290K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120664	NM_001010847.2(LRRC38):c.854C>T (p.Ala285Val)	LRRC38 (A285V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349453	NM_001010847.2(LRRC38):c.838G>A (p.Ala280Thr)	LRRC38 (A280T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120663	NM_001010847.2(LRRC38):c.772G>A (p.Val258Met)	LRRC38 (V258M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291619	NM_001010847.2(LRRC38):c.754A>G (p.Ile252Val)	LRRC38 (I252V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455494	NM_001010847.2(LRRC38):c.685C>T (p.Arg229Cys)	LRRC38 (R229C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120662	NM_001010847.2(LRRC38):c.671G>A (p.Arg224Lys)	LRRC38 (R224K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534254	NM_001010847.2(LRRC38):c.538T>A (p.Ser180Thr)	LRRC38 (S180T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2534252	NM_001010847.2(LRRC38):c.503G>A (p.Ser168Asn)	LRRC38 (S168N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2264072	NM_001010847.2(LRRC38):c.494G>A (p.Arg165His)	LRRC38 (R165H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514201	NM_001010847.2(LRRC38):c.452T>C (p.Leu151Pro)	LRRC38 (L151P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569376	NM_001010847.2(LRRC38):c.437A>C (p.Asp146Ala)	LRRC38 (D146A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2350477	NM_001010847.2(LRRC38):c.383G>A (p.Gly128Glu)	LRRC38 (G128E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291620	NM_001010847.2(LRRC38):c.326T>A (p.Leu109His)	LRRC38 (L109H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522156	NM_001010847.2(LRRC38):c.320T>C (p.Val107Ala)	LRRC38 (V107A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2284540	NM_001010847.2(LRRC38):c.262A>G (p.Arg88Gly)	LRRC38 (R88G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120661	NM_001010847.2(LRRC38):c.176G>A (p.Arg59His)	LRRC38 (R59H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120660	NM_001010847.2(LRRC38):c.175C>T (p.Arg59Cys)	LRRC38 (R59C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376917	NM_001010847.2(LRRC38):c.127C>T (p.Arg43Cys)	LRRC38 (R43C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226606	NM_001010847.2(LRRC38):c.13G>C (p.Ala5Pro)	LRRC38 (A5P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 814057	GRCh37/hg19 1p36.21(chr1:13709328-13948225)x3	PRAMEF20, PDPN +2 more	Copy number gain	not provided	GLikely benign
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 523268	GRCh37/hg19 1p36.21(chr1:13801823-14012604)	PDPN, LRRC38	Copy number gain	Tall stature +2 more	GUncertain significance
Select item 443150	GRCh37/hg19 1p36.22-36.21(chr1:10722725-14267773)x1	AADACL3, AADACL4 +53 more	Copy number loss	See cases	GLikely pathogenic
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 441913	GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1	AADACL3, AADACL4 +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 50