RGL3[gene] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 60235	GRCh38/hg38 19p13.2(chr19:11138895-11549951)x3	ANGPTL8, CCDC159 +52 more	Copy number gain	See cases	GUncertain significance
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 2550615	NM_001035223.4(RGL3):c.2105G>A (p.Arg702Gln)	RGL3 (R702Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411209	NM_001035223.4(RGL3):c.2104C>T (p.Arg702Trp)	RGL3 (R702W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313975	NM_001035223.4(RGL3):c.2089C>G (p.Arg697Gly)	RGL3 (R697G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341020	NM_001035223.4(RGL3):c.2086C>T (p.Arg696Trp)	RGL3 (R696W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262038	NM_001035223.4(RGL3):c.2071A>G (p.Arg691Gly)	RGL3 (R691G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153579	NM_001035223.4(RGL3):c.2054T>C (p.Met685Thr)	RGL3 (M685T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333460	NM_001035223.4(RGL3):c.2006G>A (p.Gly669Glu)	RGL3 (G669E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153578	NM_001035223.4(RGL3):c.1940C>G (p.Ala647Gly)	RGL3 (A647G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220495	NM_001035223.4(RGL3):c.1927G>A (p.Val643Met)	RGL3 (V649M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248945	NM_001035223.4(RGL3):c.1895T>A (p.Ile632Asn)	RGL3 (I638N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234112	NM_001035223.4(RGL3):c.1855G>A (p.Val619Ile)	RGL3 (V625I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2589102	NM_001035223.4(RGL3):c.1835C>T (p.Ser612Leu)	RGL3 (S618L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153577	NM_001035223.4(RGL3):c.1823C>T (p.Ala608Val)	RGL3 (A608V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153576	NM_001035223.4(RGL3):c.1820C>T (p.Pro607Leu)	RGL3 (P607L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2263705	NM_001035223.4(RGL3):c.1786G>A (p.Ala596Thr)	RGL3 (A596T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153575	NM_001035223.4(RGL3):c.1777C>T (p.Arg593Trp)	RGL3 (R593W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474500	NM_001035223.4(RGL3):c.1727C>T (p.Pro576Leu)	RGL3 (P576L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264104	NM_001035223.4(RGL3):c.1726C>A (p.Pro576Thr)	RGL3 (P576T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568943	NM_001035223.4(RGL3):c.1712C>T (p.Pro571Leu)	RGL3 (P571L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153574	NM_001035223.4(RGL3):c.1702G>C (p.Gly568Arg)	RGL3 (G568R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153573	NM_001035223.4(RGL3):c.1679C>T (p.Pro560Leu)	RGL3 (P560L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286155	NM_001035223.4(RGL3):c.1667C>G (p.Pro556Arg)	RGL3 (P562R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554109	NM_001035223.4(RGL3):c.1650-13G>A	RGL3 (C552Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153572	NM_001035223.4(RGL3):c.1639C>G (p.Pro547Ala)	RGL3 (P547A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359292	NM_001035223.4(RGL3):c.1625G>C (p.Gly542Ala)	RGL3 (G542A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623815	NM_001035223.4(RGL3):c.1558A>G (p.Ser520Gly)	RGL3 (S520G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245192	NM_001035223.4(RGL3):c.1552C>T (p.Arg518Trp)	RGL3 (R518W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540986	NM_001035223.4(RGL3):c.1498C>T (p.Arg500Trp)	RGL3 (R500W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025589	NM_001035223.4(RGL3):c.1473C>A (p.Thr491=)	RGL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3153571	NM_001035223.4(RGL3):c.1448C>G (p.Ala483Gly)	RGL3 (A483G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313974	NM_001035223.4(RGL3):c.1433C>T (p.Pro478Leu)	RGL3 (P478L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377985	NM_001035223.4(RGL3):c.1430A>C (p.His477Pro)	RGL3 (H477P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153570	NM_001035223.4(RGL3):c.1381C>T (p.Arg461Cys)	RGL3 (R461C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153569	NM_001035223.4(RGL3):c.1381C>G (p.Arg461Gly)	RGL3 (R461G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265147	NM_001035223.4(RGL3):c.1366T>C (p.Trp456Arg)	RGL3 (W456R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153568	NM_001035223.4(RGL3):c.1279T>G (p.Phe427Val)	RGL3 (F427V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153567	NM_001035223.4(RGL3):c.1265C>G (p.Pro422Arg)	RGL3 (P422R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313981	NM_001035223.4(RGL3):c.1255G>A (p.Gly419Ser)	RGL3 (G419S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153566	NM_001035223.4(RGL3):c.1232G>A (p.Ser411Asn)	RGL3 (S411N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247491	NM_001035223.4(RGL3):c.1201G>A (p.Gly401Arg)	RGL3 (G401R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378801	NM_001035223.4(RGL3):c.1177C>A (p.Leu393Ile)	RGL3 (L393I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377825	NM_001035223.4(RGL3):c.1149G>C (p.Glu383Asp)	RGL3 (E383D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225723	NM_001035223.4(RGL3):c.1126C>T (p.Leu376Phe)	RGL3 (L376F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153565	NM_001035223.4(RGL3):c.1097G>A (p.Ser366Asn)	RGL3 (S366N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326031	NM_001035223.4(RGL3):c.1087G>A (p.Gly363Arg)	RGL3 (G363R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313976	NM_001035223.4(RGL3):c.1024T>A (p.Ser342Thr)	RGL3 (S342T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521894	NM_001035223.4(RGL3):c.982A>C (p.Ile328Leu)	RGL3 (I328L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404203	NM_001035223.4(RGL3):c.968G>A (p.Arg323Gln)	RGL3 (R323Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517201	NM_001035223.4(RGL3):c.953C>A (p.Pro318Gln)	RGL3 (P318Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153591	NM_001035223.4(RGL3):c.949G>A (p.Ala317Thr)	RGL3 (A317T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405026	NM_001035223.4(RGL3):c.907G>A (p.Gly303Ser)	RGL3 (G303S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356684	NM_001035223.4(RGL3):c.884T>C (p.Val295Ala)	RGL3 (V295A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462783	NM_001035223.4(RGL3):c.866C>A (p.Pro289His)	RGL3 (P289H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221504	NM_001035223.4(RGL3):c.866C>G (p.Pro289Arg)	RGL3 (P289R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272438	NM_001035223.4(RGL3):c.808G>A (p.Glu270Lys)	RGL3 (E270K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206265	NM_001035223.4(RGL3):c.781G>A (p.Glu261Lys)	RGL3 (E261K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153589	NM_001035223.4(RGL3):c.775G>T (p.Asp259Tyr)	RGL3 (D259Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232507	NM_001035223.4(RGL3):c.706C>T (p.Leu236Phe)	RGL3 (L236F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556558	NM_001035223.4(RGL3):c.657A>T (p.Gln219His)	RGL3 (Q219H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153587	NM_001035223.4(RGL3):c.608A>T (p.Gln203Leu)	RGL3 (Q203L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153586	NM_001035223.4(RGL3):c.587T>C (p.Leu196Ser)	RGL3 (L196S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543902	NM_001035223.4(RGL3):c.562G>A (p.Ala188Thr)	RGL3 (A188T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517557	NM_001035223.4(RGL3):c.533C>T (p.Ala178Val)	RGL3 (A178V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153584	NM_001035223.4(RGL3):c.502C>A (p.Leu168Met)	RGL3 (L168M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153583	NM_001035223.4(RGL3):c.479G>A (p.Arg160Gln)	RGL3 (R160Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153582	NM_001035223.4(RGL3):c.440T>G (p.Val147Gly)	RGL3 (V147G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153581	NM_001035223.4(RGL3):c.402T>A (p.Asp134Glu)	RGL3 (D134E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336113	NM_001035223.4(RGL3):c.391G>A (p.Ala131Thr)	RGL3 (A131T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311724	NM_001035223.4(RGL3):c.362C>T (p.Pro121Leu)	RGL3 (P121L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2350102	NM_001035223.4(RGL3):c.356C>T (p.Pro119Leu)	RGL3 (P119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313973	NM_001035223.4(RGL3):c.305C>G (p.Thr102Ser)	RGL3 (T102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593679	NM_001035223.4(RGL3):c.299A>G (p.Tyr100Cys)	RGL3 (Y100C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649329	NM_001035223.4(RGL3):c.253G>A (p.Asp85Asn)	RGL3 (D85N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3313977	NM_001035223.4(RGL3):c.244G>T (p.Val82Leu)	RGL3 (V82L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313979	NM_001035223.4(RGL3):c.192C>G (p.Ser64Arg)	RGL3 (S64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346180	NM_001035223.4(RGL3):c.179A>G (p.His60Arg)	RGL3 (H60R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313978	NM_001035223.4(RGL3):c.98G>A (p.Arg33Gln)	RGL3 (R33Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153588	NM_001035223.4(RGL3):c.71G>A (p.Gly24Asp)	RGL3 (G24D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286691	NM_001035223.4(RGL3):c.53G>A (p.Gly18Asp)	RGL3 (G18D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313980	NM_001035223.4(RGL3):c.32T>C (p.Leu11Pro)	RGL3 (L11P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601166	NM_001035223.4(RGL3):c.28G>C (p.Ala10Pro)	RGL3 (A10P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300638	NM_001035223.4(RGL3):c.23A>G (p.Glu8Gly)	RGL3 (E8G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354669	NM_001035223.4(RGL3):c.8G>T (p.Arg3Leu)	RGL3 (R3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2423817	NC_000019.9:g.(?_11277234)_(13249220_?)dup	ACP5, ANGPTL8 +68 more	Duplication	not provided	GUncertain significance
Select item 2422498	NC_000019.9:g.(?_10828919)_(13482613_?)dup	ACP5, ANGPTL8 +81 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate B +4 more	GUncertain significance
Select item 1340718	GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3	ACP5, ANGPTL6 +59 more	Copy number gain	not provided	GUncertain significance
Select item 983187	GRCh37/hg19 19p13.2(chr19:10957601-11672041)x1	ANGPTL8, C19orf38 +22 more	Copy number loss	See cases	GPathogenic
Select item 972927	GRCh37/hg19 19p13.2(chr19:10642984-12810067)	ZNF653, ZNF69 +63 more	Copy number loss	not provided	Gnot provided
Select item 816066	GRCh37/hg19 19p13.2(chr19:11445773-12160664)x3	ELOF1, EPOR +23 more	Copy number gain	not provided	GUncertain significance
Select item 684477	Single allele	ACP5, ANGPTL8 +63 more	Deletion	not provided	Gnot provided
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic

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Items: 99