LGALS8[gene] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	LOC129932493, LOC129932494 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	LOC129932930, LOC129932931 +967 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932702, LOC129932703 +954 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	ABCB10, ACBD3 +954 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	LOC129932675, LOC129932676 +952 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	ADSS2, AGT +951 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	ABCB10, ACBD3 +949 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	ABCB10, ACBD3 +869 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	OR2T27, OR2T29 +655 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	LOC126806063, LOC126806064 +378 more	Copy number loss	See cases	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	LOC129932908, LOC129932909 +270 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 147606	GRCh38/hg38 1q42.3-43(chr1:235387992-237270632)x3	ACTN2, B3GALNT2 +88 more	Copy number gain	See cases	GPathogenic
Select item 155507	GRCh38/hg38 1q42.3-43(chr1:236206560-236941297)x3	ACTN2, EDARADD +29 more	Copy number gain	See cases	GUncertain significance
Select item 147484	GRCh38/hg38 1q42.3-43(chr1:236237049-236904883)x3	ACTN2, EDARADD +28 more	Copy number gain	See cases	GUncertain significance
Select item 3118476	NM_201544.4(LGALS8):c.182A>T (p.Asp61Val)	LGALS8 (D61V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302757	NM_201544.4(LGALS8):c.206G>T (p.Arg69Leu)	LGALS8 (R69L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118477	NM_201544.4(LGALS8):c.218C>T (p.Ala73Val)	LGALS8 (A73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640104	NM_201544.4(LGALS8):c.219C>T (p.Ala73=)	LGALS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2407740	NM_201544.4(LGALS8):c.316G>T (p.Val106Leu)	LGALS8 (V106L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118478	NM_201544.4(LGALS8):c.356A>G (p.Asn119Ser)	LGALS8 (N119S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292960	NM_201544.4(LGALS8):c.359G>T (p.Gly120Val)	LGALS8 (G120V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296707	NM_201544.4(LGALS8):c.391G>A (p.Gly131Ser)	LGALS8 (G131S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2454804	NM_201544.4(LGALS8):c.453T>G (p.Phe151Leu)	LGALS8 (F151L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773294	NM_201544.4(LGALS8):c.549+147A>G	LGALS8 (D190G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2535857	NM_201544.4(LGALS8):c.549+161G>A	LGALS8 (A195T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386535	NM_201544.4(LGALS8):c.549+192A>G	LGALS8 (D205G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 721142	NM_201544.4(LGALS8):c.603C>T (p.Val201=)	LGALS8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2363107	NM_201544.4(LGALS8):c.607G>A (p.Val203Ile)	LGALS8 (V203I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2207074	NM_201544.4(LGALS8):c.613G>A (p.Gly205Arg)	LGALS8 (G247R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494450	NM_201544.4(LGALS8):c.796T>C (p.Tyr266His)	LGALS8 (Y266H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118480	NM_201544.4(LGALS8):c.818G>A (p.Cys273Tyr)	LGALS8 (C273Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255540	NM_201544.4(LGALS8):c.847A>G (p.Asn283Asp)	LGALS8 (N283D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346114	NM_201544.4(LGALS8):c.853G>A (p.Val285Ile)	LGALS8 (V327I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118482	NM_201544.4(LGALS8):c.865G>C (p.Glu289Gln)	LGALS8 (E289Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610653	NM_201544.4(LGALS8):c.947G>A (p.Ser316Asn)	LGALS8 (S358N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238266	NM_018072.6(HEATR1):c.6428A>G (p.Tyr2143Cys)	HEATR1, LGALS8 (Y2143C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3104774	NM_018072.6(HEATR1):c.6383C>A (p.Thr2128Asn)	HEATR1, LGALS8 (T2128N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 402929	NM_018072.6(HEATR1):c.6347-3dup	HEATR1, LGALS8	Duplication (3 prime UTR variant +1 more)	not specified	GBenign
Select item 784978	NM_018072.6(HEATR1):c.6238-9C>T	HEATR1, LGALS8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3063443	GRCh37/hg19 1q42.2-43(chr1:233813555-240578304)x1	ACTN2, ARID4B +24 more	Copy number loss	not specified	GPathogenic
Select item 3063299	GRCh37/hg19 1q42.3-43(chr1:236221501-237380903)x3	ACTN2, EDARADD +8 more	Copy number gain	not specified	GUncertain significance
Select item 2685865	GRCh37/hg19 1q42.13-43(chr1:230231959-238032346)x1	ACTN2, AGT +45 more	Copy number loss	not provided	GPathogenic
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809015	GRCh37/hg19 1q42.2-43(chr1:232827966-240750334)x1	ACTN2, ARID4B +30 more	Copy number loss	not provided	GUncertain significance
Select item 1809009	GRCh37/hg19 1q42.2-43(chr1:232895447-238787061)x1	ACTN2, ARID4B +27 more	Copy number loss	not provided	GUncertain significance
Select item 1808740	GRCh37/hg19 1q42.2-43(chr1:232732121-243338216)x1	ACTN2, ARID4B +40 more	Copy number loss	not provided	GPathogenic
Select item 1711168	GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1	OR2T12, OR2T2 +109 more	Copy number loss	See cases	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 1527659	GRCh37/hg19 1q42.3-43(chr1:236593263-236688044)	EDARADD, LGALS8	Copy number loss	not specified	GUncertain significance
Select item 1527648	GRCh37/hg19 1q42.3-43(chr1:236508351-237427945)	ACTN2, LGALS8 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1527626	GRCh37/hg19 1q42.2-43(chr1:232226609-241010904)	ACTN2, ARID4B +32 more	Copy number loss	not specified	GPathogenic
Select item 1180519	GRCh37/hg19 1q42.2-43(chr1:231407943-237289859)x1	ACTN2, ARID4B +34 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 979944	GRCh37/hg19 1q42.3-43(chr1:235931559-236766584)x3	EDARADD, ERO1B +5 more	Copy number gain	not provided	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814181	GRCh37/hg19 1q42.2-43(chr1:233843930-237971511)x1	SLC35F3, TARBP1 +21 more	Copy number loss	not provided	GPathogenic
Select item 814175	GRCh37/hg19 1q42.13-43(chr1:228832737-240993877)x3	ERO1B, EXOC8 +59 more	Copy number gain	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 688720	GRCh37/hg19 1q43(chr1:236604023-236778133)x3	EDARADD, HEATR1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687630	GRCh37/hg19 1q43(chr1:236604023-236787822)x3	EDARADD, HEATR1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687169	GRCh37/hg19 1q43(chr1:236604023-236786473)x3	EDARADD, HEATR1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 686043	GRCh37/hg19 1q43(chr1:236604210-236778133)x3	EDARADD, HEATR1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685476	GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3	ACTN2, ADSS2 +96 more	Copy number gain	not provided	GPathogenic
Select item 685464	GRCh37/hg19 1q43(chr1:236604023-236787822)x3	EDARADD, HEATR1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 625534	GRCh37/hg19 1q42.2-43(chr1:234546246-238716872)	ACTN2, ARID4B +20 more	Copy number loss	not provided	GLikely pathogenic
Select item 625533	GRCh37/hg19 1q42.3-43(chr1:234742890-239475761)	ACTN2, ARID4B +19 more	Copy number loss	not provided	GPathogenic
Select item 565232	GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3	ABCB10, ACTA1 +145 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441937	GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1	ACTN2, ADSS2 +94 more	Copy number loss	See cases	GPathogenic
Select item 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	See cases	GPathogenic
Select item 441651	GRCh37/hg19 1q42.2-43(chr1:234605553-240932205)x1	TARBP1, TBCE +23 more	Copy number loss	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	ABCB10, ACBD3 +393 more	Copy number gain	See cases	GPathogenic
Select item 393997	GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3	CATSPERE, OR2T11 +114 more	Copy number gain	See cases	GPathogenic
Select item 253636	GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3	ACTN2, ADSS2 +105 more	Copy number gain	See cases	GPathogenic
Select item 221989	GRCh37/hg19 1q42.3-43(chr1:236224569-237379105)x3	ACTN2, EDARADD +8 more	Copy number gain	See cases	GUncertain significance

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Items: 85