LGR5[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 146282	GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	ATXN7L3B, BEST3 +141 more	Copy number loss	See cases	GLikely pathogenic
Select item 147046	GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1	ATXN7L3B, BBS10 +125 more	Copy number loss	See cases	GPathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +163 more	Copy number loss	See cases	GPathogenic
Select item 152629	GRCh38/hg38 12q21.1(chr12:71355673-71468955)x3	LGR5, LOC124629403 +1 more	Copy number gain	See cases	GLikely benign
Select item 2612893	NM_003667.4(LGR5):c.37C>A (p.Pro13Thr)	LGR5 (P13T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235986	NM_003667.4(LGR5):c.134G>A (p.Arg45Lys)	LGR5 (R45K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118569	NM_003667.4(LGR5):c.223A>G (p.Met75Val)	LGR5 (M75V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391557	NM_003667.4(LGR5):c.256C>A (p.Leu86Met)	LGR5 (L86M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118570	NM_003667.4(LGR5):c.257T>G (p.Leu86Arg)	LGR5 (L86R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118571	NM_003667.4(LGR5):c.262A>T (p.Ser88Cys)	LGR5 (S88C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620023	NM_003667.4(LGR5):c.285A>G (p.Leu95=)	LGR5	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 740082	NM_003667.4(LGR5):c.384C>T (p.His128=)	LGR5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3118572	NM_003667.4(LGR5):c.417C>A (p.Ser139Arg)	LGR5 (S139R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118573	NM_003667.4(LGR5):c.418C>T (p.Leu140Phe)	LGR5 (L140F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281213	NM_003667.4(LGR5):c.448A>C (p.Ile150Leu)	LGR5 (I150L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2280870	NM_003667.4(LGR5):c.601A>T (p.Ile201Leu)	LGR5 (I201L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3118574	NM_003667.4(LGR5):c.640G>A (p.Val214Ile)	LGR5 (V214I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 715913	NM_003667.4(LGR5):c.653A>G (p.His218Arg)	LGR5 (H218R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3118575	NM_003667.4(LGR5):c.654T>G (p.His218Gln)	LGR5 (H146Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118576	NM_003667.4(LGR5):c.656A>C (p.Asn219Thr)	LGR5 (N147T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290568	NM_003667.4(LGR5):c.667C>T (p.His223Tyr)	LGR5 (H151Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314872	NM_003667.4(LGR5):c.668A>G (p.His223Arg)	LGR5 (H223R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290573	NM_003667.4(LGR5):c.702C>G (p.His234Gln)	LGR5 (H234Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328365	NM_003667.4(LGR5):c.1063C>G (p.Gln355Glu)	LGR5 (Q331E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290572	NM_003667.4(LGR5):c.1067T>G (p.Val356Gly)	LGR5 (V332G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118564	NM_003667.4(LGR5):c.1145G>A (p.Arg382Lys)	LGR5 (R310K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 790667	NM_003667.4(LGR5):c.1148A>G (p.His383Arg)	LGR5 (H383R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3290565	NM_003667.4(LGR5):c.1165A>T (p.Ile389Phe)	LGR5 (I317F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401601	NM_003667.4(LGR5):c.1247A>G (p.Asn416Ser)	LGR5 (N344S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 711464	NM_003667.4(LGR5):c.1270C>G (p.Leu424Val)	LGR5 (L352V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 718180	NM_003667.4(LGR5):c.1282G>A (p.Asp428Asn)	LGR5 (D356N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 779529	NM_003667.4(LGR5):c.1290G>T (p.Ser430=)	LGR5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 722963	NM_003667.4(LGR5):c.1304C>T (p.Ser435Leu)	LGR5 (S363L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3118565	NM_003667.4(LGR5):c.1328A>G (p.His443Arg)	LGR5 (H371R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596430	NM_003667.4(LGR5):c.1364C>A (p.Ala455Asp)	LGR5 (A383D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492883	NM_003667.4(LGR5):c.1395T>A (p.Phe465Leu)	LGR5 (F465L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223974	NM_003667.4(LGR5):c.1407G>C (p.Lys469Asn)	LGR5 (K469N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456316	NM_003667.4(LGR5):c.1412T>C (p.Ile471Thr)	LGR5 (I471T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302631	NM_003667.4(LGR5):c.1466A>G (p.Tyr489Cys)	LGR5 (Y417C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118566	NM_003667.4(LGR5):c.1492G>T (p.Gly498Cys)	LGR5 (G426C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269857	NM_003667.4(LGR5):c.1513G>A (p.Asp505Asn)	LGR5 (D481N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269858	NM_003667.4(LGR5):c.1546G>A (p.Ala516Thr)	LGR5 (A444T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243567	NM_003667.4(LGR5):c.1558C>A (p.Arg520Ser)	LGR5 (R448S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215332	NM_003667.4(LGR5):c.1613C>T (p.Ser538Leu)	LGR5 (S538L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606706	NM_003667.4(LGR5):c.1749C>G (p.Phe583Leu)	LGR5 (F583L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290566	NM_003667.4(LGR5):c.1822G>T (p.Val608Phe)	LGR5 (V584F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300165	NM_003667.4(LGR5):c.1828A>T (p.Ser610Cys)	LGR5 (S610C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290564	NM_003667.4(LGR5):c.1882G>A (p.Gly628Ser)	LGR5 (G604S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299029	NM_003667.4(LGR5):c.2021C>T (p.Thr674Met)	LGR5 (T602M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770775	NM_003667.4(LGR5):c.2031A>G (p.Pro677=)	LGR5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2211391	NM_003667.4(LGR5):c.2032T>C (p.Phe678Leu)	LGR5 (F678L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118568	NM_003667.4(LGR5):c.2146C>T (p.Pro716Ser)	LGR5 (P644S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290571	NM_003667.4(LGR5):c.2168T>C (p.Met723Thr)	LGR5 (M723T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2250306	NM_003667.4(LGR5):c.2174A>G (p.Tyr725Cys)	LGR5 (Y701C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209867	NM_003667.4(LGR5):c.2182G>A (p.Ala728Thr)	LGR5 (A728T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288748	NM_003667.4(LGR5):c.2211C>G (p.Phe737Leu)	LGR5 (F665L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770987	NM_003667.4(LGR5):c.2341C>G (p.Pro781Ala)	LGR5 (P757A +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2478585	NM_003667.4(LGR5):c.2404A>G (p.Lys802Glu)	LGR5 (K730E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472345	NM_003667.4(LGR5):c.2423T>C (p.Val808Ala)	LGR5 (V736A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524060	NM_003667.4(LGR5):c.2461A>G (p.Ile821Val)	LGR5 (I821V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358145	NM_003667.4(LGR5):c.2477A>T (p.His826Leu)	LGR5 (H754L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290569	NM_003667.4(LGR5):c.2561C>G (p.Ser854Cys)	LGR5 (S830C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476626	NM_003667.4(LGR5):c.2582C>A (p.Ser861Tyr)	LGR5 (S789Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290570	NM_003667.4(LGR5):c.2593A>G (p.Thr865Ala)	LGR5 (T841A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245795	NM_003667.4(LGR5):c.2609C>A (p.Thr870Asn)	LGR5 (T798N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473973	NM_003667.4(LGR5):c.2625C>A (p.Ser875Arg)	LGR5 (S803R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290567	NM_003667.4(LGR5):c.2656C>A (p.Pro886Thr)	LGR5 (P886T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063262	GRCh37/hg19 12q15-21.1(chr12:69498859-74073631)x1	BEST3, CCT2 +20 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685053	GRCh37/hg19 12q21.1(chr12:71722986-71973110)x4	LGR5	Copy number gain	not provided	GUncertain significance
Select item 2684678	GRCh37/hg19 12q21.1(chr12:71722986-71978728)x3	LGR5	Copy number gain	not provided	GUncertain significance
Select item 1340527	GRCh37/hg19 12q15-21.2(chr12:70084476-77065764)x1	TBC1D15, THAP2 +25 more	Copy number loss	not provided	GPathogenic
Select item 1180525	GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	CAND1, RAB3IP +42 more	Copy number loss	not provided	GPathogenic
Select item 688046	GRCh37/hg19 12q15-21.1(chr12:71081550-73526446)x1	LGR5, PTPRR +8 more	Copy number loss	not provided	GUncertain significance
Select item 443535	GRCh37/hg19 12q15-21.1(chr12:70575476-73344659)x1	CNOT2, KCNMB4 +11 more	Copy number loss	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 78