LRRC52[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 60043	GRCh38/hg38 1q23.3-24.2(chr1:162040050-167480663)x1	LOC129931815, LOC129931816 +151 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 59374	GRCh38/hg38 1q23.3-24.1(chr1:164547546-165689403)x1	ALDH9A1, LMX1A +28 more	Copy number loss	See cases	GUncertain significance
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 2550733	NM_001005214.4(LRRC52):c.7C>A (p.Leu3Ile)	LRRC52, LRRC52-AS1 (L3I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512602	NM_001005214.4(LRRC52):c.11C>T (p.Ala4Val)	LRRC52, LRRC52-AS1 (A4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120807	NM_001005214.4(LRRC52):c.62T>G (p.Val21Gly)	LRRC52, LRRC52-AS1 (V21G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291689	NM_001005214.4(LRRC52):c.112A>G (p.Ile38Val)	LRRC52, LRRC52-AS1 (I38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205777	NM_001005214.4(LRRC52):c.136G>A (p.Glu46Lys)	LRRC52, LRRC52-AS1 (E46K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409453	NM_001005214.4(LRRC52):c.269G>A (p.Arg90Gln)	LRRC52, LRRC52-AS1 (R90Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3120806	NM_001005214.4(LRRC52):c.316C>T (p.Leu106Phe)	LRRC52, LRRC52-AS1 (L106F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714609	NM_001005214.4(LRRC52):c.345G>C (p.Ser115=)	LRRC52, LRRC52-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3291687	NM_001005214.4(LRRC52):c.491C>G (p.Thr164Ser)	LRRC52, LRRC52-AS1 (T164S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291688	NM_001005214.4(LRRC52):c.524C>T (p.Thr175Ile)	LRRC52, LRRC52-AS1 (T175I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603130	NM_001005214.4(LRRC52):c.698G>A (p.Arg233Gln)	LRRC52, LRRC52-AS1 (R233Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339163	NM_001005214.4(LRRC52):c.772G>A (p.Ala258Thr)	LRRC52, LRRC52-AS1 (A258T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485592	NM_001005214.4(LRRC52):c.773C>T (p.Ala258Val)	LRRC52, LRRC52-AS1 (A258V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783012	NM_001005214.4(LRRC52):c.829C>T (p.Arg277Cys)	LRRC52, LRRC52-AS1 (R277C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2323367	NM_001005214.4(LRRC52):c.889C>T (p.Arg297Trp)	LRRC52, LRRC52-AS1 (R297W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357034	NM_001005214.4(LRRC52):c.914C>T (p.Ser305Leu)	LRRC52, LRRC52-AS1 (S305L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1527348	GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331)	ADCY10, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979302	GRCh37/hg19 1q23.3-24.2(chr1:164608682-169216098)x1	STYXL2, GPR161 +30 more	Copy number loss	not provided	GLikely pathogenic
Select item 688465	GRCh37/hg19 1q23.3-24.2(chr1:163093021-168991239)x1	ADCY10, ALDH9A1 +30 more	Copy number loss	not provided	GPathogenic
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	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 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic

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Items: 35