ClinVar for Gene (Select 59352) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	C4BPA, FMOD +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	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CSRP1, PPFIA4 +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	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	EGLN1, EIF2D +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	LOC122149345, LOC122149346 +166 more	Copy number loss	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 83