ClinVar for Gene (Select 148641) - ClinVar

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Links from Gene

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248035	NC_000001.10:g.(?_234338304)_(237995947_?)dup	LGALS8, LNCATV +21 more	Duplication	not provided	GUncertain significance
Select item 3242280	GRCh37/hg19 1q42.2-42.3(chr1:234117880-236536349)x1	ARID4B, B3GALNT2 +14 more	Copy number loss	not provided	GPathogenic
Select item 3164424	NM_173508.4(SLC35F3):c.569G>T (p.Cys190Phe)	SLC35F3 (C190F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164423	NM_173508.4(SLC35F3):c.524A>G (p.Asn175Ser)	SLC35F3 (N106S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164422	NM_173508.4(SLC35F3):c.415G>T (p.Val139Leu)	SLC35F3 (V70L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164421	NM_173508.4(SLC35F3):c.397A>G (p.Lys133Glu)	SLC35F3 (K133E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164420	NM_173508.4(SLC35F3):c.305C>G (p.Ser102Cys)	SLC35F3 (S33C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164419	NM_173508.4(SLC35F3):c.25G>A (p.Gly9Ser)	SLC35F3 (G9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164418	NM_173508.4(SLC35F3):c.1260G>C (p.Gln420His)	SLC35F3 (Q351H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164417	NM_173508.4(SLC35F3):c.1157T>C (p.Ile386Thr)	SLC35F3 (I317T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063443	GRCh37/hg19 1q42.2-43(chr1:233813555-240578304)x1	ACTN2, ARID4B +24 more	Copy number loss	not specified	GPathogenic
Select item 2685910	GRCh37/hg19 1q42.2(chr1:233335851-234100031)x1	KCNK1, MAP3K21 +2 more	Copy number loss	not provided	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 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 2577840	NC_000001.11:g.(233502994_233518999)_(236093155_236105019)del	ARID4B, B3GALNT2 +162 more	Deletion	Immunodeficiency, common variable, 14	GPathogenic
Select item 2550515	NM_173508.4(SLC35F3):c.364C>T (p.Arg122Cys)	SLC35F3 (R53C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528308	NM_173508.4(SLC35F3):c.1408G>A (p.Ala470Thr)	SLC35F3 (A401T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508356	NM_173508.4(SLC35F3):c.1465G>T (p.Ala489Ser)	SLC35F3 (A489S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482532	NM_173508.4(SLC35F3):c.368G>A (p.Arg123His)	SLC35F3 (R123H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456964	NM_173508.4(SLC35F3):c.1271A>G (p.Asn424Ser)	SLC35F3 (N355S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393154	NM_173508.4(SLC35F3):c.1180G>A (p.Val394Ile)	SLC35F3 (V325I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335965	NM_173508.4(SLC35F3):c.1057A>G (p.Ile353Val)	SLC35F3 (I284V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2325342	NM_173508.4(SLC35F3):c.1135G>T (p.Val379Phe)	SLC35F3 (V379F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303423	NM_173508.4(SLC35F3):c.986A>G (p.Lys329Arg)	SLC35F3 (K260R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303368	NM_173508.4(SLC35F3):c.195C>A (p.Ser65Arg)	SLC35F3 (S65R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283191	NM_173508.4(SLC35F3):c.877G>C (p.Ala293Pro)	SLC35F3 (A224P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280009	NM_173508.4(SLC35F3):c.359C>T (p.Ala120Val)	SLC35F3 (A120V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246088	NM_173508.4(SLC35F3):c.433G>C (p.Val145Leu)	SLC35F3 (V76L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1809265	GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3	ABCB10, ACTA1 +65 more	Copy number gain	not provided	GLikely pathogenic
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 1707457	Single allele	LOC129388781, LOC129932784 +123 more	Duplication	not specified	GUncertain significance
Select item 1701131	GRCh37/hg19 1q42.2-42.3(chr1:233086457-234745240)x1	SLC35F3, TARBP1 +6 more	Copy number loss	not provided	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 1340553	GRCh37/hg19 1q42.2(chr1:234056242-234567468)x3	COA6, SLC35F3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1229023	NM_173508.4(SLC35F3):c.385C>G (p.Arg129Gly)	SLC35F3 (R129G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1180519	GRCh37/hg19 1q42.2-43(chr1:231407943-237289859)x1	SPRTN, TARBP1 +34 more	Copy number loss	not provided	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 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 814168	GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	FBXO28, ACBD3 +83 more	Copy number loss	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 791843	NM_173508.4(SLC35F3):c.1338G>A (p.Glu446=)	SLC35F3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782399	NM_173508.4(SLC35F3):c.829-10G>A	SLC35F3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 743623	NM_173508.4(SLC35F3):c.415G>A (p.Val139Met)	SLC35F3 (V70M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 741962	NM_173508.4(SLC35F3):c.1461C>T (p.Ser487=)	SLC35F3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 688184	GRCh37/hg19 1q42.2(chr1:234084122-234285405)x3	SLC35F3	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 565236	GRCh37/hg19 1q42.2(chr1:232742828-234398133)x1	MAP3K21, MAP10 +4 more	Copy number loss	not provided	GUncertain significance
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)	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 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 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 393997	GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3	GCSAML, GGPS1 +114 more	Copy number gain	See cases	GPathogenic
Select item 253962	GRCh37/hg19 1q42.2(chr1:233234142-234435116)x3	SLC35F3, MAP3K21 +2 more	Copy number gain	See cases	GUncertain significance
Select item 253636	GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3	ACTN2, ADSS2 +105 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 155546	GRCh38/hg38 1q42.2-42.3(chr1:234147274-235184361)x1	ARID4B, COA6 +98 more	Copy number loss	See cases	GUncertain significance
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC129932859, LOC129932860 +869 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	SCCPDH, SDCCAG8 +951 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	LOC129932775, LOC129932776 +655 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932948, LOC129932949 +954 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1325 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932613, LOC129932614 +949 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	LOC128772241, LOC128772242 +952 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC129932666, LOC129932667 +954 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 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	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	LOC129932646, LOC129932647 +967 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 80