55366[geneid] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 148655	GRCh38/hg38 11p14.3-14.1(chr11:23024064-27978597)x1	ANO3, ANO3-AS1 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 145522	GRCh38/hg38 11p14.3-13(chr11:24595399-31096539)x3	ANO3, ANO3-AS1 +71 more	Copy number gain	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 2465386	NM_018490.5(LGR4):c.2822G>A (p.Arg941His)	LGR4 (R941H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469743	NM_018490.5(LGR4):c.2786C>T (p.Ala929Val)	LGR4 (A905V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288987	NM_018490.5(LGR4):c.2767G>T (p.Val923Leu)	LGR4 (V899L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388438	NM_018490.5(LGR4):c.2711C>A (p.Ala904Asp)	LGR4 (A880D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543585	NM_018490.5(LGR4):c.2675C>A (p.Pro892His)	LGR4 (P892H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301184	NM_018490.5(LGR4):c.2641T>G (p.Cys881Gly)	LGR4 (C857G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037795	NM_018490.5(LGR4):c.2589G>A (p.Ser863=)	LGR4	Single nucleotide variant (synonymous variant)	LGR4-related disorder	GLikely benign
Select item 3118555	NM_018490.5(LGR4):c.2575G>A (p.Asp859Asn)	LGR4 (D835N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289856	NM_018490.5(LGR4):c.2575G>C (p.Asp859His)	LGR4 (D859H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118554	NM_018490.5(LGR4):c.2569G>A (p.Val857Ile)	LGR4 (V833I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290483	NM_018490.5(LGR4):c.2536G>A (p.Gly846Ser)	LGR4 (G846S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1321211	NM_018490.5(LGR4):c.2531A>G (p.Asp844Gly)	LGR4 (D844G +1 more)	Single nucleotide variant (missense variant)	Delayed puberty, self-limited	GPathogenic
Select item 749514	NM_018490.5(LGR4):c.2409C>T (p.Phe803=)	LGR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2466533	NM_018490.5(LGR4):c.2380G>C (p.Ala794Pro)	LGR4 (A770P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339061	NM_018490.5(LGR4):c.2372C>A (p.Pro791Gln)	LGR4 (P767Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047121	NM_018490.5(LGR4):c.2292G>A (p.Ala764=)	LGR4	Single nucleotide variant (synonymous variant)	LGR4-related disorder	GLikely benign
Select item 2641692	NM_018490.5(LGR4):c.2268T>C (p.Asn756=)	LGR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713249	NM_018490.5(LGR4):c.2248G>A (p.Ala750Thr)	LGR4 (A726T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3033965	NM_018490.5(LGR4):c.2169T>C (p.Val723=)	LGR4	Single nucleotide variant (synonymous variant)	LGR4-related disorder	GLikely benign
Select item 3290559	NM_018490.5(LGR4):c.2167G>A (p.Val723Ile)	LGR4 (V723I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1048906	NM_018490.5(LGR4):c.2102C>T (p.Thr701Met)	LGR4 (T677M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118553	NM_018490.5(LGR4):c.2071C>T (p.Pro691Ser)	LGR4 (P691S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388615	NM_018490.5(LGR4):c.2056G>A (p.Glu686Lys)	LGR4 (E686K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719745	NM_018490.5(LGR4):c.2050A>G (p.Arg684Gly)	LGR4 (R684G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2379704	NM_018490.5(LGR4):c.2015G>C (p.Gly672Ala)	LGR4 (G672A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274218	NM_018490.5(LGR4):c.1970A>C (p.Asn657Thr)	LGR4 (N633T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471563	NM_018490.5(LGR4):c.1846A>G (p.Ser616Gly)	LGR4 (S592G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118552	NM_018490.5(LGR4):c.1843G>A (p.Gly615Ser)	LGR4 (G591S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641693	NM_018490.5(LGR4):c.1827C>G (p.Gly609=)	LGR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2336639	NM_018490.5(LGR4):c.1784C>G (p.Thr595Ser)	LGR4 (T571S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779136	NM_018490.5(LGR4):c.1782A>G (p.Leu594=)	LGR4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2552269	NM_018490.5(LGR4):c.1627C>G (p.Leu543Val)	LGR4 (L519V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249398	NM_018490.5(LGR4):c.1610G>A (p.Gly537Glu)	LGR4 (G537E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730324	NM_018490.5(LGR4):c.1580-9T>G	LGR4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2244226	NM_018490.5(LGR4):c.1526C>T (p.Thr509Ile)	LGR4 (T485I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290560	NM_018490.5(LGR4):c.1499C>T (p.Thr500Ile)	LGR4 (T476I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395338	NM_018490.5(LGR4):c.1474C>T (p.His492Tyr)	LGR4 (H468Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544008	NM_018490.5(LGR4):c.1448A>T (p.Asn483Ile)	LGR4 (N483I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225645	NM_018490.5(LGR4):c.1289C>T (p.Thr430Met)	LGR4 (T406M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290562	NM_018490.5(LGR4):c.1277C>A (p.Thr426Asn)	LGR4 (T402N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118550	NM_018490.5(LGR4):c.1219A>G (p.Arg407Gly)	LGR4 (R383G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118549	NM_018490.5(LGR4):c.1165A>G (p.Ile389Val)	LGR4 (I365V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727021	NM_018490.5(LGR4):c.1158A>G (p.Gln386=)	LGR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3118548	NM_018490.5(LGR4):c.1151C>T (p.Thr384Ile)	LGR4 (T384I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058131	NM_018490.5(LGR4):c.1121G>A (p.Arg374His)	LGR4 (R350H +1 more)	Single nucleotide variant (missense variant)	LGR4-related disorder	GLikely benign
Select item 2399667	NM_018490.5(LGR4):c.1120C>T (p.Arg374Cys)	LGR4 (R350C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1321209	NM_018490.5(LGR4):c.1087G>T (p.Gly363Cys)	LGR4 (G363C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2261176	NM_018490.5(LGR4):c.1066A>G (p.Arg356Gly)	LGR4 (R356G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311982	NM_018490.5(LGR4):c.1038G>C (p.Arg346Ser)	LGR4 (R346S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617613	NM_018490.5(LGR4):c.988A>G (p.Lys330Glu)	LGR4 (K330E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118563	NM_018490.5(LGR4):c.985A>G (p.Thr329Ala)	LGR4 (T329A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118562	NM_018490.5(LGR4):c.969T>A (p.Ser323Arg)	LGR4 (S323R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217112	NM_018490.5(LGR4):c.933G>C (p.Gln311His)	LGR4 (Q287H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118560	NM_018490.5(LGR4):c.929A>G (p.Gln310Arg)	LGR4 (Q310R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234204	NM_018490.5(LGR4):c.890A>G (p.Asp297Gly)	LGR4 (D297G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118559	NM_018490.5(LGR4):c.871G>A (p.Ala291Thr)	LGR4 (A291T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607929	NM_018490.5(LGR4):c.866A>T (p.Asn289Ile)	LGR4 (N289I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118558	NM_018490.5(LGR4):c.848C>G (p.Pro283Arg)	LGR4 (P259R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290561	NM_018490.5(LGR4):c.769A>G (p.Ser257Gly)	LGR4 (S257G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 755381	NM_018490.5(LGR4):c.535C>T (p.Leu179=)	LGR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3118557	NM_018490.5(LGR4):c.497C>T (p.Thr166Met)	LGR4 (T166M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641694	NM_018490.5(LGR4):c.467G>A (p.Arg156Gln)	LGR4 (R132Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2411757	NM_018490.5(LGR4):c.379G>C (p.Gly127Arg)	LGR4 (G103R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118556	NM_018490.5(LGR4):c.377G>A (p.Arg126Gln)	LGR4 (R102Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277268	NM_018490.5(LGR4):c.377G>C (p.Arg126Pro)	LGR4 (R102P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 55922	NM_018490.5(LGR4):c.376C>T (p.Arg126Ter)	LGR4 (R126* +1 more)	Single nucleotide variant (nonsense)	Bone mineral density quantitative trait locus 17	Gassociation
Select item 2397096	NM_018490.5(LGR4):c.364A>C (p.Ser122Arg)	LGR4 (S98R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1321210	NM_018490.5(LGR4):c.286A>G (p.Ile96Val)	LGR4 (I96V +1 more)	Single nucleotide variant (missense variant)	Delayed puberty, self-limited	GPathogenic
Select item 2641695	NM_018490.5(LGR4):c.267G>A (p.Ala89=)	LGR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3045561	NM_018490.5(LGR4):c.186-9G>A	LGR4	Single nucleotide variant (intron variant)	LGR4-related disorder	GLikely benign
Select item 2621177	NM_018490.5(LGR4):c.182C>T (p.Ala61Val)	LGR4, LGR4-AS1 (A61V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532247	NM_018490.5(LGR4):c.155C>T (p.Pro52Leu)	LGR4, LGR4-AS1 (P52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118551	NM_018490.5(LGR4):c.124G>C (p.Asp42His)	LGR4, LGR4-AS1 (D42H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534237	NM_018490.5(LGR4):c.88G>T (p.Ala30Ser)	LGR4, LGR4-AS1 +1 more (A30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534236	NM_018490.5(LGR4):c.79C>T (p.Pro27Ser)	LGR4, LGR4-AS1 +1 more (P27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522407	NM_018490.5(LGR4):c.59G>A (p.Gly20Glu)	LGR4, LGR4-AS1 +1 more (G20E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302882	NM_018490.5(LGR4):c.53C>T (p.Ser18Leu)	LGR4, LGR4-AS1 +1 more (S18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534235	NM_018490.5(LGR4):c.49G>T (p.Gly17Cys)	LGR4, LGR4-AS1 +1 more (G17C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534234	NM_018490.5(LGR4):c.47T>G (p.Leu16Arg)	LGR4, LGR4-AS1 +1 more (L16R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1809116	GRCh37/hg19 11p14.1(chr11:27340839-27572771)x1	BDNF-AS, CCDC34 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1711090	GRCh37/hg19 11p14.1(chr11:27382897-29172035)x1	BDNF, BDNF-AS +6 more	Copy number loss	See cases	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	LDHA, SLC5A12 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 563874	GRCh37/hg19 11p14.3-14.1(chr11:25090108-28909131)x3	BBOX1, CCDC34 +12 more	Copy number gain	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
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 441893	GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	ABTB2, ANO3 +48 more	Copy number loss	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 376759	GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1	KCNA4, KIF18A +39 more	Copy number loss	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome	GPathogenic
Select item 376757	GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1	DCDC1, DNAJC24 +44 more	Copy number loss	Aniridia 1	GPathogenic
Select item 253976	GRCh37/hg19 11p14.1(chr11:27407012-28000144)x3	LIN7C, BDNF +2 more	Copy number gain	See cases	GUncertain significance

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Items: 100