ClinVar for Gene (Select 57633) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292096	NM_020873.7(LRRN1):c.337G>C (p.Val113Leu)	LRRN1 (V113L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292095	NM_020873.7(LRRN1):c.763C>T (p.Pro255Ser)	LRRN1 (P255S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292094	NM_020873.7(LRRN1):c.1063A>G (p.Lys355Glu)	LRRN1 (K355E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292093	NM_020873.7(LRRN1):c.157G>A (p.Ala53Thr)	LRRN1 (A53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292092	NM_020873.7(LRRN1):c.1224C>G (p.His408Gln)	LRRN1 (H408Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3292091	NM_020873.7(LRRN1):c.1168C>T (p.Arg390Cys)	LRRN1 (R390C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292090	NM_020873.7(LRRN1):c.1589A>G (p.Tyr530Cys)	LRRN1 (Y530C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292089	NM_020873.7(LRRN1):c.1169G>A (p.Arg390His)	LRRN1 (R390H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292088	NM_020873.7(LRRN1):c.1852G>A (p.Ala618Thr)	LRRN1 (A618T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3121166	NM_020873.7(LRRN1):c.988C>G (p.Arg330Gly)	LRRN1 (R330G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121165	NM_020873.7(LRRN1):c.858G>A (p.Met286Ile)	LRRN1 (M286I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121164	NM_020873.7(LRRN1):c.589A>C (p.Met197Leu)	LRRN1 (M197L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121163	NM_020873.7(LRRN1):c.571C>T (p.Pro191Ser)	LRRN1 (P191S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121162	NM_020873.7(LRRN1):c.481C>A (p.His161Asn)	LRRN1 (H161N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3121161	NM_020873.7(LRRN1):c.287A>C (p.Asn96Thr)	LRRN1 (N96T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121160	NM_020873.7(LRRN1):c.1852G>T (p.Ala618Ser)	LRRN1 (A618S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121159	NM_020873.7(LRRN1):c.1681A>G (p.Met561Val)	LRRN1 (M561V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121158	NM_020873.7(LRRN1):c.1670C>T (p.Ser557Leu)	LRRN1 (S557L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121157	NM_020873.7(LRRN1):c.1652C>T (p.Thr551Met)	LRRN1 (T551M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121156	NM_020873.7(LRRN1):c.1652C>A (p.Thr551Lys)	LRRN1 (T551K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121155	NM_020873.7(LRRN1):c.1643A>G (p.Asn548Ser)	LRRN1 (N548S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121154	NM_020873.7(LRRN1):c.1511T>A (p.Val504Asp)	LRRN1 (V504D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121153	NM_020873.7(LRRN1):c.1273A>G (p.Met425Val)	LRRN1 (M425V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121152	NM_020873.7(LRRN1):c.1207C>T (p.Pro403Ser)	LRRN1 (P403S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062676	GRCh37/hg19 3p26.2-26.1(chr3:3282609-5207411)x1	ARL8B, BHLHE40 +5 more	Copy number loss	not specified	GPathogenic
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2685019	GRCh37/hg19 3p26.3-26.1(chr3:61892-6743581)x1	ARL8B, BHLHE40 +12 more	Copy number loss	not provided	GUncertain significance
Select item 2671618	Single allele	ARL8B, ARPC4 +36 more	Deletion	not provided	GPathogenic
Select item 2671609	Single allele	ARL8B, BHLHE40 +13 more	Deletion	not provided	GPathogenic
Select item 2653448	NM_020873.7(LRRN1):c.1255A>G (p.Ser419Gly)	LRRN1 (S419G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2653447	NM_020873.7(LRRN1):c.1209C>T (p.Pro403=)	LRRN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653446	NM_020873.7(LRRN1):c.984C>T (p.Ile328=)	LRRN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2607622	NM_020873.7(LRRN1):c.623A>T (p.Asp208Val)	LRRN1 (D208V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602154	NM_020873.7(LRRN1):c.490G>T (p.Ala164Ser)	LRRN1 (A164S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2580893	GRCh37/hg19 3p26.2-25.3(chr3:3691505-9917651)x1	ARPC4, ARPC4-TTLL3 +29 more	Copy number loss	3p- syndrome	GPathogenic
Select item 2539669	NM_020873.7(LRRN1):c.948G>C (p.Lys316Asn)	LRRN1 (K316N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526667	NM_020873.7(LRRN1):c.1385C>T (p.Pro462Leu)	LRRN1 (P462L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514757	NM_020873.7(LRRN1):c.917A>G (p.Tyr306Cys)	LRRN1 (Y306C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462248	NM_020873.7(LRRN1):c.1160C>T (p.Thr387Ile)	LRRN1 (T387I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461735	NM_020873.7(LRRN1):c.830A>G (p.Lys277Arg)	LRRN1 (K277R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411744	NM_020873.7(LRRN1):c.1529G>A (p.Arg510Gln)	LRRN1 (R510Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351466	NM_020873.7(LRRN1):c.1090C>T (p.Arg364Cys)	LRRN1 (R364C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342106	NM_020873.7(LRRN1):c.176A>G (p.Asn59Ser)	LRRN1 (N59S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294517	NM_020873.7(LRRN1):c.93G>C (p.Glu31Asp)	LRRN1 (E31D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294516	NM_020873.7(LRRN1):c.1971G>C (p.Lys657Asn)	LRRN1 (K657N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293465	NM_020873.7(LRRN1):c.1576G>T (p.Val526Leu)	LRRN1 (V526L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279130	NM_020873.7(LRRN1):c.1441G>A (p.Glu481Lys)	LRRN1 (E481K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242150	NM_020873.7(LRRN1):c.1799A>G (p.Asn600Ser)	LRRN1 (N600S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226506	NM_020873.7(LRRN1):c.451A>C (p.Asn151His)	LRRN1 (N151H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808511	GRCh37/hg19 3p26.3-26.1(chr3:2347813-6381546)x3	ARL8B, BHLHE40 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1808299	GRCh37/hg19 3p26.3-25.3(chr3:61892-11679509)x1	ARL8B, ARPC4 +55 more	Copy number loss	not provided	GPathogenic
Select item 1807781	GRCh37/hg19 3p26.3-25.3(chr3:61892-9769457)x1	ARL8B, BHLHE40 +25 more	Copy number loss	not provided	GPathogenic
Select item 1807765	GRCh37/hg19 3p26.3-25.3(chr3:61892-9899605)x1	ARL8B, ARPC4 +33 more	Copy number loss	not provided	GPathogenic
Select item 1807746	GRCh37/hg19 3p26.2-26.1(chr3:3718732-5377364)x1	ARL8B, BHLHE40 +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 1803810	GRCh37/hg19 3p26.3-25.3(chr3:60931-10687964)x3	JAGN1, LHFPL4 +50 more	Copy number gain	not provided	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1526966	GRCh37/hg19 3p26.3-25.3(chr3:61891-9797094)	ARL8B, BHLHE40 +27 more	Copy number loss	not specified	GPathogenic
Select item 1180543	GRCh37/hg19 3p26.3-26.1(chr3:60001-8472742)x1	ARL8B, BHLHE40 +13 more	Copy number loss	not provided	GPathogenic
Select item 1047886	GRCh37/hg19 3p26.3-26.1(chr3:73914-5940479)	ARL8B, BHLHE40 +12 more	Copy number loss	Abnormal brain morphology	GPathogenic
Select item 997055	GRCh37/hg19 3p26.3-26.1(chr3:73914-4356052)	CHL1, CNTN4 +6 more	Copy number loss	Fetal growth restriction	GLikely pathogenic
Select item 997052	GRCh37/hg19 3p26.3-26.1(chr3:73914-4331711)	CHL1, CNTN4 +5 more	Copy number loss	Autism +1 more	GLikely pathogenic
Select item 816593	GRCh37/hg19 3p26.3-25.3(chr3:61891-10287825)x1	ARL8B, ARPC4 +45 more	Copy number loss	not provided	GPathogenic
Select item 814418	GRCh37/hg19 3p26.2(chr3:3786472-3935744)x1	LRRN1	Copy number loss	not provided	GUncertain significance
Select item 814417	GRCh37/hg19 3p26.2-26.1(chr3:3511130-4915785)x3	SUMF1, ITPR1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 787166	NM_020873.7(LRRN1):c.1221G>A (p.Gly407=)	LRRN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 787009	NM_020873.7(LRRN1):c.2104A>C (p.Thr702Pro)	LRRN1 (T702P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 786734	NM_020873.7(LRRN1):c.1827C>T (p.Cys609=)	LRRN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778834	NM_020873.7(LRRN1):c.1647C>T (p.Val549=)	LRRN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778063	NM_020873.7(LRRN1):c.459C>T (p.Asn153=)	LRRN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770517	NM_020873.7(LRRN1):c.1308C>T (p.Asn436=)	LRRN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 759344	NM_020873.7(LRRN1):c.90T>C (p.Ser30=)	LRRN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739552	NM_020873.7(LRRN1):c.2067A>T (p.Glu689Asp)	LRRN1 (E689D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 739551	NM_020873.7(LRRN1):c.1152C>T (p.Ser384=)	LRRN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716843	NM_020873.7(LRRN1):c.396C>T (p.Thr132=)	LRRN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688515	GRCh37/hg19 3p26.3-26.1(chr3:61891-6067006)x1	ARL8B, BHLHE40 +12 more	Copy number loss	not provided	GPathogenic
Select item 687650	GRCh37/hg19 3p26.3-26.1(chr3:61891-8269583)x1	ARL8B, BHLHE40 +13 more	Copy number loss	not provided	GPathogenic
Select item 687648	GRCh37/hg19 3p26.3-26.1(chr3:61891-8269583)x1	ARL8B, BHLHE40 +13 more	Copy number loss	not provided	GPathogenic
Select item 635936	Single allele	ARL8B, BHLHE40 +20 more	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 625697	GRCh37/hg19 3p26.3-26.1(chr3:107776-5257572)	ARL8B, BHLHE40 +12 more	Copy number loss	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 562691	GRCh37/hg19 3p26.3-25.3(chr3:61891-10104842)x1	SUMF1, TTLL3 +41 more	Copy number loss	not provided	GPathogenic
Select item 562690	GRCh37/hg19 3p26.3-26.1(chr3:61891-8173161)x1	CRBN, LRRN1 +13 more	Copy number loss	not provided	GPathogenic
Select item 562689	GRCh37/hg19 3p26.3-26.1(chr3:61891-7875536)x1	TRNT1, SUMF1 +13 more	Copy number loss	not provided	GPathogenic
Select item 562688	GRCh37/hg19 3p26.3-26.1(chr3:61891-7486254)x1	SETMAR, EDEM1 +13 more	Copy number loss	not provided	GPathogenic
Select item 562687	GRCh37/hg19 3p26.3-26.1(chr3:61891-7032830)x1	EDEM1, EGOT +13 more	Copy number loss	not provided	GPathogenic
Select item 562686	GRCh37/hg19 3p26.3-26.1(chr3:61891-5167964)x1	IL5RA, BHLHE40 +11 more	Copy number loss	not provided	GPathogenic
Select item 562685	GRCh37/hg19 3p26.3-26.1(chr3:61891-4098164)x1	CHL1, TRNT1 +5 more	Copy number loss	not provided	GPathogenic
Select item 523278	GRCh37/hg19 3p26.3-26.1(chr3:93949-5427855)	ARL8B, BHLHE40 +12 more	Copy number loss	Seizure +2 more	GLikely pathogenic
Select item 443797	GRCh37/hg19 3p26.2-26.1(chr3:2930451-5953602)x1	ARL8B, BHLHE40 +10 more	Copy number loss	See cases	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 443360	GRCh37/hg19 3p26.3-26.1(chr3:61891-7456866)x1	ARL8B, BHLHE40 +13 more	Copy number loss	See cases	GPathogenic
Select item 443052	GRCh37/hg19 3p26.3-25.3(chr3:61891-8777555)x1	ARL8B, BHLHE40 +17 more	Copy number loss	See cases	GPathogenic
Select item 442402	GRCh37/hg19 3p26.3-26.1(chr3:61891-4196715)x3	CHL1, CNTN4 +5 more	Copy number gain	See cases	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442264	GRCh37/hg19 3p26.3-25.2(chr3:61891-12575409)x1	ARL8B, ARPC4 +60 more	Copy number loss	See cases	GPathogenic
Select item 442243	GRCh37/hg19 3p26.3-26.1(chr3:61891-7865381)x1	SETMAR, SUMF1 +13 more	Copy number loss	See cases	GPathogenic

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