ClinVar for Gene (Select 59352) - ClinVar

Links from Gene

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3290580	NM_001017403.2(LGR6):c.1505T>C (p.Leu502Pro)	LGR6 (L363P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290579	NM_001017403.2(LGR6):c.2311A>G (p.Met771Val)	LGR6 (M719V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290578	NM_001017403.2(LGR6):c.2172G>T (p.Glu724Asp)	LGR6 (E672D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290577	NM_001017403.2(LGR6):c.1714G>T (p.Val572Leu)	LGR6 (V520L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290576	NM_001017403.2(LGR6):c.2723G>A (p.Gly908Glu)	LGR6 (G856E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290575	NM_001017403.2(LGR6):c.2530C>T (p.Arg844Cys)	LGR6 (R705C +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3118595	NM_001017403.2(LGR6):c.946A>G (p.Met316Val)	LGR6 (M316V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118594	NM_001017403.2(LGR6):c.754G>A (p.Ala252Thr)	LGR6 (A200T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118593	NM_001017403.2(LGR6):c.717A>T (p.Leu239=)	LGR6	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3118592	NM_001017403.2(LGR6):c.2668G>A (p.Gly890Arg)	LGR6 (G751R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118591	NM_001017403.2(LGR6):c.2659C>T (p.Arg887Trp)	LGR6 (R887W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118590	NM_001017403.2(LGR6):c.2635A>T (p.Ile879Phe)	LGR6 (I879F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118589	NM_001017403.2(LGR6):c.2411C>A (p.Thr804Lys)	LGR6 (T752K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118588	NM_001017403.2(LGR6):c.2279G>A (p.Arg760Gln)	LGR6 (R621Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118587	NM_001017403.2(LGR6):c.2056G>A (p.Val686Ile)	LGR6 (V634I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118585	NM_001017403.2(LGR6):c.1871T>A (p.Leu624Gln)	LGR6 (L485Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118584	NM_001017403.2(LGR6):c.1742T>G (p.Leu581Arg)	LGR6 (L529R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118583	NM_001017403.2(LGR6):c.1724C>T (p.Ser575Phe)	LGR6 (S575F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118582	NM_001017403.2(LGR6):c.1702G>A (p.Val568Met)	LGR6 (V568M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118581	NM_001017403.2(LGR6):c.1384A>G (p.Lys462Glu)	LGR6 (K462E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118580	NM_001017403.2(LGR6):c.1289C>T (p.Thr430Ile)	LGR6 (T378I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118579	NM_001017403.2(LGR6):c.1243C>G (p.Pro415Ala)	LGR6 (P415A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118577	NM_001017403.2(LGR6):c.1186C>A (p.Gln396Lys)	LGR6 (Q344K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063110	GRCh37/hg19 1q32.1(chr1:202261387-202375150)x3	LGR6, PPP1R12B +1 more	Copy number gain	not specified	GUncertain significance
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 2639786	NM_001017403.2(LGR6):c.2277G>A (p.Pro759=)	LGR6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2608496	NM_001017403.2(LGR6):c.2276C>T (p.Pro759Leu)	LGR6 (P707L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600601	NM_001017403.2(LGR6):c.1808C>T (p.Ala603Val)	LGR6 (A464V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598140	NM_001017403.2(LGR6):c.413C>A (p.Pro138Gln)	LGR6 (P95Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558771	NM_001017403.2(LGR6):c.439G>A (p.Ala147Thr)	LGR6 (A95T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558309	NM_001017403.2(LGR6):c.2342C>T (p.Ala781Val)	LGR6 (A781V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558072	NM_001017403.2(LGR6):c.2522T>C (p.Leu841Pro)	LGR6 (L841P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542874	NM_001017403.2(LGR6):c.431G>A (p.Arg144His)	LGR6 (R144H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529307	NM_001017403.2(LGR6):c.2511C>A (p.Asp837Glu)	LGR6 (D837E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518970	NM_001017403.2(LGR6):c.614C>T (p.Ala205Val)	LGR6 (A153V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514550	NM_001017403.2(LGR6):c.2564C>T (p.Ala855Val)	LGR6 (A716V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493861	NM_001017403.2(LGR6):c.1331G>T (p.Gly444Val)	LGR6 (G392V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484903	NM_001017403.2(LGR6):c.1624A>G (p.Ser542Gly)	LGR6 (S490G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461082	NM_001017403.2(LGR6):c.493C>T (p.Arg165Cys)	LGR6 (R165C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 2409981	NM_001017403.2(LGR6):c.1756G>A (p.Val586Met)	LGR6 (V534M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387043	NM_001017403.2(LGR6):c.302A>G (p.His101Arg)	LGR6 (H101R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386890	NM_001017403.2(LGR6):c.1677T>G (p.Phe559Leu)	LGR6 (F507L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386210	NM_001017403.2(LGR6):c.2296G>A (p.Val766Met)	LGR6 (V627M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375352	NM_001017403.2(LGR6):c.2387C>G (p.Ser796Cys)	LGR6 (S744C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369573	NM_001017403.2(LGR6):c.1708G>A (p.Ala570Thr)	LGR6 (A518T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358420	NM_001017403.2(LGR6):c.391G>A (p.Ala131Thr)	LGR6 (A131T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357799	NM_001017403.2(LGR6):c.1624A>C (p.Ser542Arg)	LGR6 (S542R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345427	NM_001017403.2(LGR6):c.2660G>A (p.Arg887Gln)	LGR6 (R748Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2344499	NM_001017403.2(LGR6):c.515A>G (p.Asn172Ser)	LGR6 (N120S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328206	NM_001017403.2(LGR6):c.398C>T (p.Ala133Val)	LGR6 (A133V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325745	NM_001017403.2(LGR6):c.2501T>C (p.Phe834Ser)	LGR6 (F834S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320776	NM_001017403.2(LGR6):c.1153C>T (p.Arg385Cys)	LGR6 (R385C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320694	NM_001017403.2(LGR6):c.1513G>A (p.Glu505Lys)	LGR6 (E453K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302389	NM_001017403.2(LGR6):c.119A>C (p.His40Pro)	LGR6 (H40P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281676	NM_001017403.2(LGR6):c.2060G>A (p.Arg687Gln)	LGR6 (R548Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279258	NM_001017403.2(LGR6):c.610T>G (p.Tyr204Asp)	LGR6 (Y204D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278454	NM_001017403.2(LGR6):c.2207T>A (p.Leu736Gln)	LGR6 (L597Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259374	NM_001017403.2(LGR6):c.590G>A (p.Arg197His)	LGR6 (R145H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256655	NM_001017403.2(LGR6):c.1991C>T (p.Ala664Val)	LGR6 (A525V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244604	NM_001017403.2(LGR6):c.2569G>A (p.Gly857Arg)	LGR6 (G718R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233372	NM_001017403.2(LGR6):c.2631T>A (p.Asp877Glu)	LGR6 (D738E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227287	NM_001017403.2(LGR6):c.2200G>A (p.Val734Met)	LGR6 (V682M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221777	NM_001017403.2(LGR6):c.2023C>T (p.Arg675Trp)	LGR6 (R536W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216835	NM_001017403.2(LGR6):c.2011G>A (p.Val671Ile)	LGR6 (V532I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210721	NM_001017403.2(LGR6):c.2005G>A (p.Val669Ile)	LGR6 (V530I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209078	NM_001017403.2(LGR6):c.1613A>G (p.Lys538Arg)	LGR6 (K399R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205031	NM_001017403.2(LGR6):c.79C>A (p.Gln27Lys)	LGR6 (Q27K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204036	NM_001017403.2(LGR6):c.2531G>A (p.Arg844His)	LGR6 (R844H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 929630	NM_014176.3(UBE2T):c.-65+1253_*12383del	LGR6, UBE2T	Deletion	Fanconi anemia complementation group T	GPathogenic
Select item 788947	NM_001017403.2(LGR6):c.1010G>A (p.Arg337His)	LGR6 (R198H +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 785945	NM_001017403.2(LGR6):c.2334C>T (p.Leu778=)	LGR6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777562	NM_001017403.2(LGR6):c.1407-6C>G	LGR6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 749560	NM_001017403.2(LGR6):c.1809G>A (p.Ala603=)	LGR6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735690	NM_001017403.2(LGR6):c.2598T>C (p.Ser866=)	LGR6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711297	NM_001017403.2(LGR6):c.2533G>A (p.Ala845Thr)	LGR6 (A845T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	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 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 144143	GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	LOC120893174, LOC122149340 +166 more	Copy number loss	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 90