LONRF2[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 150339	GRCh38/hg38 2q11.2(chr2:98411773-101636907)x1	AFF3, C2orf15 +114 more	Copy number loss	See cases	GLikely pathogenic
Select item 60183	GRCh38/hg38 2q11.2(chr2:98787057-100785053)x1	AFF3, C2orf15 +56 more	Copy number loss	See cases	GPathogenic
Select item 147769	GRCh38/hg38 2q11.2(chr2:99253497-101559639)x3	AFF3, CHST10 +69 more	Copy number gain	See cases	GUncertain significance
Select item 3119542	NM_198461.4(LONRF2):c.2228G>A (p.Arg743Gln)	LONRF2 (R500Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405420	NM_198461.4(LONRF2):c.2213G>A (p.Arg738His)	LONRF2 (R738H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289351	NM_198461.4(LONRF2):c.2159C>A (p.Thr720Asn)	LONRF2 (T477N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119541	NM_198461.4(LONRF2):c.2155A>G (p.Met719Val)	LONRF2 (M476V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318318	NM_198461.4(LONRF2):c.2146A>G (p.Ile716Val)	LONRF2 (I473V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406660	NM_198461.4(LONRF2):c.2129G>A (p.Arg710His)	LONRF2 (R467H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651205	NM_198461.4(LONRF2):c.2112C>T (p.Ala704=)	LONRF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2242507	NM_198461.4(LONRF2):c.2066C>T (p.Pro689Leu)	LONRF2 (P446L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312467	NM_198461.4(LONRF2):c.2027T>C (p.Leu676Ser)	LONRF2 (L433S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613313	NM_198461.4(LONRF2):c.2022A>T (p.Gln674His)	LONRF2 (Q431H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515930	NM_198461.4(LONRF2):c.2009G>A (p.Arg670His)	LONRF2 (R427H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2259210	NM_198461.4(LONRF2):c.2008C>T (p.Arg670Cys)	LONRF2 (R670C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375076	NM_198461.4(LONRF2):c.1843A>G (p.Ser615Gly)	LONRF2 (S372G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119540	NM_198461.4(LONRF2):c.1831G>T (p.Ala611Ser)	LONRF2 (A611S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264071	NM_198461.4(LONRF2):c.1765G>C (p.Glu589Gln)	LONRF2 (E589Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391435	NM_198461.4(LONRF2):c.1562A>G (p.Lys521Arg)	LONRF2 (K278R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466578	NM_198461.4(LONRF2):c.1541C>T (p.Pro514Leu)	LONRF2 (P271L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711331	NM_198461.4(LONRF2):c.1512G>A (p.Leu504=)	LONRF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2651206	NM_198461.4(LONRF2):c.1444C>A (p.His482Asn)	LONRF2 (H239N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2557951	NM_198461.4(LONRF2):c.1244C>T (p.Ala415Val)	LONRF2 (A415V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476945	NM_198461.4(LONRF2):c.1193G>A (p.Gly398Asp)	LONRF2 (G398D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119537	NM_198461.4(LONRF2):c.1135C>T (p.His379Tyr)	LONRF2 (H136Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222314	NM_198461.4(LONRF2):c.1106C>T (p.Ser369Phe)	LONRF2 (S369F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359874	NM_198461.4(LONRF2):c.1103A>G (p.Asn368Ser)	LONRF2 (N368S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291064	NM_198461.4(LONRF2):c.1091T>C (p.Leu364Pro)	LONRF2 (L121P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119549	NM_198461.4(LONRF2):c.986A>G (p.Gln329Arg)	LONRF2 (Q329R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281840	NM_198461.4(LONRF2):c.962A>G (p.His321Arg)	LONRF2 (H321R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223260	NM_198461.4(LONRF2):c.946G>A (p.Ala316Thr)	LONRF2 (A73T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119548	NM_198461.4(LONRF2):c.919A>G (p.Lys307Glu)	LONRF2 (K307E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347917	NM_198461.4(LONRF2):c.842G>A (p.Ser281Asn)	LONRF2 (S281N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410974	NM_198461.4(LONRF2):c.821C>T (p.Ala274Val)	LONRF2 (A31V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469417	NM_198461.4(LONRF2):c.590T>G (p.Leu197Arg)	LONRF2 (L197R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3119546	NM_198461.4(LONRF2):c.559C>A (p.Leu187Met)	LONRF2 (L187M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3291065	NM_198461.4(LONRF2):c.500T>C (p.Val167Ala)	LONRF2 (V167A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3291069	NM_198461.4(LONRF2):c.439C>G (p.Arg147Gly)	LONRF2 (R147G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2617690	NM_198461.4(LONRF2):c.406G>T (p.Ala136Ser)	LONRF2 (A136S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3119545	NM_198461.4(LONRF2):c.400C>A (p.Pro134Thr)	LONRF2 (P134T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2651207	NM_198461.4(LONRF2):c.391G>A (p.Ala131Thr)	LONRF2 (A131T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3291067	NM_198461.4(LONRF2):c.363G>C (p.Glu121Asp)	LONRF2 (E121D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3119544	NM_198461.4(LONRF2):c.344C>G (p.Ala115Gly)	LONRF2 (A115G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2604967	NM_198461.4(LONRF2):c.344C>T (p.Ala115Val)	LONRF2 (A115V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2550409	NM_198461.4(LONRF2):c.331C>T (p.Arg111Trp)	LONRF2 (R111W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3119543	NM_198461.4(LONRF2):c.313G>T (p.Ala105Ser)	LONRF2 (A105S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2206971	NM_198461.4(LONRF2):c.295G>A (p.Ala99Thr)	LONRF2 (A99T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2280871	NM_198461.4(LONRF2):c.247G>C (p.Gly83Arg)	LONRF2 (G83R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3119539	NM_198461.4(LONRF2):c.175G>A (p.Gly59Ser)	LONRF2 (G59S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3291068	NM_198461.4(LONRF2):c.139C>G (p.Arg47Gly)	LONRF2 (R47G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3291066	NM_198461.4(LONRF2):c.134T>G (p.Leu45Arg)	LONRF2 (L45R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3119538	NM_198461.4(LONRF2):c.118G>C (p.Glu40Gln)	LONRF2 (E40Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2329820	NM_198461.4(LONRF2):c.102C>G (p.Phe34Leu)	LONRF2 (F34L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3119547	NM_198461.4(LONRF2):c.61G>A (p.Glu21Lys)	LONRF2 (E21K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2411790	NM_198461.4(LONRF2):c.47G>A (p.Gly16Asp)	LONRF2 (G16D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2685857	GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3	ACTR1B, ADRA2B +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 687224	GRCh37/hg19 2q11.2(chr2:100728268-100891697)x3	AFF3, LONRF2	Copy number gain	not provided	GUncertain significance
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443415	GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127)	ACTR1B, ADRA2B +86 more	Copy number gain	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 395690	GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)	ACTR1B, ADRA2B +88 more	Copy number gain	See cases	GPathogenic
Select item 394963	GRCh37/hg19 2q11.2(chr2:100890121-101188008)x3	CHST10, LONRF2 +2 more	Copy number gain	See cases	GUncertain significance

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Items: 70