ClinVar for Gene (Select 219527) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3291694	NM_001005210.4(LRRC55):c.143T>G (p.Val48Gly)	LRRC55 (V48G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291693	NM_001005210.4(LRRC55):c.443C>T (p.Pro148Leu)	LOC124489741, LRRC55 (P148L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291692	NM_001005210.4(LRRC55):c.175G>A (p.Val59Met)	LRRC55 (V59M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291691	NM_001005210.4(LRRC55):c.265A>G (p.Met89Val)	LRRC55 (M89V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291690	NM_001005210.4(LRRC55):c.164G>A (p.Arg55Gln)	LRRC55 (R55Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120810	NM_001005210.4(LRRC55):c.799G>A (p.Val267Met)	LRRC55 (V267M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120809	NM_001005210.4(LRRC55):c.742G>T (p.Ala248Ser)	LRRC55 (A248S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120808	NM_001005210.4(LRRC55):c.118G>A (p.Val40Ile)	LRRC55 (V40I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2608498	NM_001005210.2(LRRC55):c.13C>T (p.Pro5Ser)	LRRC55 (P5S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2598426	NM_001005210.4(LRRC55):c.787T>A (p.Phe263Ile)	LRRC55 (F263I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559255	NM_001005210.4(LRRC55):c.67C>T (p.Leu23Phe)	LRRC55 (L23F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472328	NM_001005210.4(LRRC55):c.54G>A (p.Met18Ile)	LRRC55 (M18I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463183	NM_001005210.4(LRRC55):c.889G>A (p.Glu297Lys)	LRRC55 (E297K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457070	NM_001005210.4(LRRC55):c.685G>A (p.Gly229Ser)	LRRC55 (G229S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455477	NM_001005210.4(LRRC55):c.227G>A (p.Arg76His)	LRRC55 (R76H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359080	NM_001005210.4(LRRC55):c.700G>A (p.Glu234Lys)	LRRC55 (E234K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336070	NM_001005210.4(LRRC55):c.455G>C (p.Arg152Thr)	LOC124489741, LRRC55 (R152T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291695	NM_001005210.4(LRRC55):c.-36G>A	LRRC55	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2256578	NM_001005210.4(LRRC55):c.171C>G (p.Phe57Leu)	LRRC55 (F57L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248856	NM_001005210.4(LRRC55):c.351C>G (p.His117Gln)	LOC124489741, LRRC55 (H117Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239731	NM_001005210.4(LRRC55):c.316C>T (p.Arg106Trp)	LRRC55 (R106W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216382	NM_001005210.4(LRRC55):c.278T>G (p.Val93Gly)	LRRC55 (V93G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212312	NM_001005210.4(LRRC55):c.133C>T (p.Arg45Cys)	LRRC55 (R45C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204418	NM_001005210.4(LRRC55):c.-60G>A	LRRC55	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1808253	GRCh37/hg19 11q12.1(chr11:56637024-57361915)x3	APLNR, LRRC55 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 684481	Single allele	APLNR, BTBD18 +67 more	Duplication	not provided	Gnot provided
Select item 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	not provided	GUncertain significance
Select item 442071	GRCh37/hg19 11p11.12-q12.1(chr11:51183548-56977098)x3	LRRC55, OR10AG1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 152667	GRCh38/hg38 11q11-12.1(chr11:55316535-57539457)x3	APLNR, LINC02735 +86 more	Copy number gain	See cases	GUncertain significance
Select item 149390	GRCh38/hg38 11q12.1(chr11:57047366-57372313)x3	LOC130005701, LOC130005702 +15 more	Copy number gain	See cases	GLikely benign

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Links from Gene

Items: 38