ClinVar for Gene (Select 164312) - ClinVar

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Links from Gene

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3121195	NM_152611.5(LRRN4):c.889A>G (p.Thr297Ala)	LRRN4 (T297A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121193	NM_152611.5(LRRN4):c.488C>A (p.Pro163His)	LRRN4 (P163H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121192	NM_152611.5(LRRN4):c.449C>T (p.Ala150Val)	LRRN4 (A150V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3121191	NM_152611.5(LRRN4):c.353C>G (p.Pro118Arg)	LRRN4 (P118R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121190	NM_152611.5(LRRN4):c.2087C>T (p.Ala696Val)	LRRN4 (A696V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3121189	NM_152611.5(LRRN4):c.2020T>C (p.Phe674Leu)	LRRN4 (F674L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121188	NM_152611.5(LRRN4):c.1650T>A (p.His550Gln)	LRRN4 (H550Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121187	NM_152611.5(LRRN4):c.1577A>C (p.Asp526Ala)	LRRN4 (D526A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121186	NM_152611.5(LRRN4):c.1573G>T (p.Asp525Tyr)	LRRN4 (D525Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121185	NM_152611.5(LRRN4):c.1553A>C (p.Glu518Ala)	LRRN4 (E518A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121184	NM_152611.5(LRRN4):c.1375G>A (p.Gly459Arg)	LRRN4 (G459R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121183	NM_152611.5(LRRN4):c.1297A>G (p.Thr433Ala)	LRRN4 (T433A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	SEC23B, SEL1L2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	CDS2, CPXM1 +114 more	Copy number gain	not provided	GPathogenic
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2652198	NM_152611.5(LRRN4):c.726G>A (p.Thr242=)	LRRN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652197	NM_152611.5(LRRN4):c.1437C>T (p.Ala479=)	LRRN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618786	NM_152611.5(LRRN4):c.221C>A (p.Pro74Gln)	LRRN4 (P74Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609355	NM_152611.5(LRRN4):c.1178C>A (p.Ala393Glu)	LRRN4 (A393E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608834	NM_152611.5(LRRN4):c.1945G>A (p.Val649Met)	LRRN4 (V649M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599359	NM_152611.5(LRRN4):c.1156G>T (p.Gly386Cys)	LRRN4 (G386C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598949	NM_152611.5(LRRN4):c.327C>A (p.Asn109Lys)	LRRN4 (N109K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595379	NM_152611.5(LRRN4):c.452T>C (p.Leu151Pro)	LRRN4 (L151P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588961	NM_152611.5(LRRN4):c.1700G>A (p.Arg567Gln)	LRRN4 (R567Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 2550936	NM_152611.5(LRRN4):c.29T>A (p.Leu10Gln)	LRRN4 (L10Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548704	NM_152611.5(LRRN4):c.2048T>G (p.Leu683Arg)	LRRN4 (L683R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541484	NM_152611.5(LRRN4):c.1903C>A (p.Gln635Lys)	LRRN4 (Q635K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541443	NM_152611.5(LRRN4):c.509C>T (p.Pro170Leu)	LRRN4 (P170L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517036	NM_152611.5(LRRN4):c.2050C>T (p.Leu684Phe)	LRRN4 (L684F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2496084	NM_152611.5(LRRN4):c.274A>G (p.Thr92Ala)	LRRN4 (T92A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2490871	NM_152611.5(LRRN4):c.1258T>C (p.Trp420Arg)	LRRN4 (W420R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486944	NM_152611.5(LRRN4):c.2128C>A (p.Gln710Lys)	LRRN4 (Q710K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476275	NM_152611.5(LRRN4):c.203G>T (p.Arg68Leu)	LRRN4 (R68L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466797	NM_152611.5(LRRN4):c.1925C>G (p.Ser642Trp)	LRRN4 (S642W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466211	NM_152611.5(LRRN4):c.1105A>C (p.Thr369Pro)	LRRN4 (T369P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461116	NM_152611.5(LRRN4):c.249C>A (p.Ser83Arg)	LRRN4 (S83R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	ADAM33, ADISSP +60 more	Duplication	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 2393645	NM_152611.5(LRRN4):c.536G>A (p.Cys179Tyr)	LRRN4 (C179Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376934	NM_152611.5(LRRN4):c.1759G>C (p.Gly587Arg)	LRRN4 (G587R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374023	NM_152611.5(LRRN4):c.440G>C (p.Ser147Thr)	LRRN4 (S147T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368365	NM_152611.5(LRRN4):c.656T>C (p.Val219Ala)	LRRN4 (V219A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363212	NM_152611.5(LRRN4):c.1156G>C (p.Gly386Arg)	LRRN4 (G386R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313242	NM_152611.5(LRRN4):c.479C>A (p.Ala160Glu)	LRRN4 (A160E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301029	NM_152611.5(LRRN4):c.1720A>T (p.Ser574Cys)	LRRN4 (S574C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295446	NM_152611.5(LRRN4):c.637G>C (p.Gly213Arg)	LRRN4 (G213R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294819	NM_152611.5(LRRN4):c.1333G>A (p.Val445Ile)	LRRN4 (V445I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286751	NM_152611.5(LRRN4):c.397C>A (p.Gln133Lys)	LRRN4 (Q133K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284542	NM_152611.5(LRRN4):c.2041G>A (p.Ala681Thr)	LRRN4 (A681T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278284	NM_152611.5(LRRN4):c.1747C>T (p.Pro583Ser)	LRRN4 (P583S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275618	NM_152611.5(LRRN4):c.1138C>T (p.Arg380Cys)	LRRN4 (R380C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269488	NM_152611.5(LRRN4):c.2093C>T (p.Thr698Ile)	LRRN4 (T698I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267217	NM_152611.5(LRRN4):c.1693C>T (p.Arg565Trp)	LRRN4 (R565W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247464	NM_152611.5(LRRN4):c.463G>C (p.Gly155Arg)	LRRN4 (G155R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236623	NM_152611.5(LRRN4):c.328C>A (p.Arg110Ser)	LRRN4 (R110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235786	NM_152611.5(LRRN4):c.1705C>T (p.Arg569Trp)	LRRN4 (R569W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217342	NM_152611.5(LRRN4):c.478G>T (p.Ala160Ser)	LRRN4 (A160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212755	NM_152611.5(LRRN4):c.575A>G (p.Glu192Gly)	LRRN4 (E192G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207621	NM_152611.5(LRRN4):c.1811A>G (p.Asn604Ser)	LRRN4 (N604S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808794	GRCh37/hg19 20p12.3(chr20:6013642-6128223)x1	CRLS1, FERMT1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1703638	GRCh37/hg19 20p13-12.2(chr20:3178539-11848383)	ADAM33, ADRA1D +47 more	Copy number loss	20p12.3 microdeletion syndrome	GPathogenic
Select item 993851	NM_152611.5(LRRN4):c.88G>A (p.Val30Ile)	LRRN4 (V30I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 831757	NC_000020.10:g.(?_6015110)_(6759736_?)del	BMP2, CRLS1 +2 more	Deletion	not provided	GPathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 564645	GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1	FERMT1, SPTLC3 +62 more	Copy number loss	not provided	GPathogenic
Select item 443885	GRCh37/hg19 20p13-12.3(chr20:2463101-8185680)x1	ADAM33, ADISSP +58 more	Copy number loss	See cases	GPathogenic
Select item 443774	GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3	ADAM33, ADISSP +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	CST1, NAPB +178 more	Copy number gain	not provided	GPathogenic
Select item 394208	GRCh37/hg19 20p13-12.1(chr20:4392930-12667768)x1	ANKEF1, BMP2 +28 more	Copy number loss	See cases	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	SPEF1, SPTLC3 +571 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 148627	GRCh38/hg38 20p13-12.3(chr20:4343033-6911730)x1	BMP2, CASC20 +101 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	ABHD12, ACSS1 +833 more	Copy number gain	See cases	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	LOC105372493, LOC105372524 +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126863004, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	ADAM33, ADISSP +581 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 84