ClinVar for Gene (Select 10446) - ClinVar

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Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292101	NM_201630.2(LRRN2):c.127C>A (p.Pro43Thr)	LRRN2 (P43T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292100	NM_201630.2(LRRN2):c.1882C>A (p.Arg628Ser)	LRRN2 (R628S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292099	NM_201630.2(LRRN2):c.326G>A (p.Arg109Gln)	LRRN2 (R109Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292098	NM_201630.2(LRRN2):c.1595G>A (p.Arg532Gln)	LRRN2 (R532Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3121174	NM_201630.2(LRRN2):c.548G>A (p.Arg183His)	LRRN2 (R183H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121172	NM_201630.2(LRRN2):c.415G>A (p.Gly139Arg)	LRRN2 (G139R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121171	NM_201630.2(LRRN2):c.218C>T (p.Thr73Ile)	LRRN2 (T73I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121170	NM_201630.2(LRRN2):c.1940C>T (p.Ala647Val)	LRRN2 (A647V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121169	NM_201630.2(LRRN2):c.1615T>C (p.Tyr539His)	LRRN2 (Y539H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121168	NM_201630.2(LRRN2):c.1360G>A (p.Glu454Lys)	LRRN2 (E454K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121167	NM_201630.2(LRRN2):c.134C>T (p.Ser45Leu)	LRRN2 (S45L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639834	NM_201630.2(LRRN2):c.453C>T (p.Asn151=)	LRRN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2639833	NM_201630.2(LRRN2):c.1194G>A (p.Ala398=)	LRRN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2599999	NM_201630.2(LRRN2):c.1928C>T (p.Ala643Val)	LRRN2 (A643V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564260	NM_201630.2(LRRN2):c.133T>G (p.Ser45Ala)	LRRN2 (S45A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549868	NM_201630.2(LRRN2):c.349C>A (p.Pro117Thr)	LRRN2 (P117T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542523	NM_201630.2(LRRN2):c.1678A>G (p.Ser560Gly)	LRRN2 (S560G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525620	NM_201630.2(LRRN2):c.1225C>T (p.Arg409Cys)	LRRN2 (R409C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514366	NM_201630.2(LRRN2):c.1640C>T (p.Thr547Ile)	LRRN2 (T547I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484904	NM_201630.2(LRRN2):c.354G>C (p.Gln118His)	LRRN2 (Q118H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479395	NM_201630.2(LRRN2):c.1912G>A (p.Ala638Thr)	LRRN2 (A638T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461601	NM_201630.2(LRRN2):c.463C>T (p.Arg155Cys)	LRRN2 (R155C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461399	NM_201630.2(LRRN2):c.751C>T (p.Arg251Trp)	LRRN2 (R251W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 2411432	NM_201630.2(LRRN2):c.1424G>A (p.Arg475Gln)	LRRN2 (R475Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408880	NM_201630.2(LRRN2):c.547C>T (p.Arg183Cys)	LRRN2 (R183C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407149	NM_201630.2(LRRN2):c.901A>G (p.Ile301Val)	LRRN2 (I301V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394649	NM_201630.2(LRRN2):c.815C>T (p.Pro272Leu)	LRRN2 (P272L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383489	NM_201630.2(LRRN2):c.1889G>T (p.Gly630Val)	LRRN2 (G630V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382132	NM_201630.2(LRRN2):c.241A>G (p.Ile81Val)	LRRN2 (I81V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381734	NM_201630.2(LRRN2):c.1241G>A (p.Arg414Gln)	LRRN2 (R414Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378993	NM_201630.2(LRRN2):c.1915G>A (p.Val639Ile)	LRRN2 (V639I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358949	NM_201630.2(LRRN2):c.130C>T (p.Arg44Cys)	LRRN2 (R44C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352752	NM_201630.2(LRRN2):c.628C>T (p.Arg210Trp)	LRRN2 (R210W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352683	NM_201630.2(LRRN2):c.392G>A (p.Arg131Gln)	LRRN2 (R131Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351467	NM_201630.2(LRRN2):c.1148C>T (p.Thr383Met)	LRRN2 (T383M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332351	NM_201630.2(LRRN2):c.1280G>A (p.Arg427Gln)	LRRN2 (R427Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331874	NM_201630.2(LRRN2):c.836G>A (p.Gly279Glu)	LRRN2 (G279E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310094	NM_201630.2(LRRN2):c.1645C>T (p.Pro549Ser)	LRRN2 (P549S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309548	NM_201630.2(LRRN2):c.994C>A (p.His332Asn)	LRRN2 (H332N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302883	NM_201630.2(LRRN2):c.262G>C (p.Glu88Gln)	LRRN2 (E88Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297392	NM_201630.2(LRRN2):c.1696G>A (p.Gly566Ser)	LRRN2 (G566S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289396	NM_201630.2(LRRN2):c.143G>T (p.Arg48Leu)	LRRN2 (R48L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288451	NM_201630.2(LRRN2):c.1291C>G (p.Pro431Ala)	LRRN2 (P431A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270839	NM_201630.2(LRRN2):c.1594C>T (p.Arg532Trp)	LRRN2 (R532W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235388	NM_201630.2(LRRN2):c.647G>A (p.Arg216His)	LRRN2 (R216H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231120	NM_201630.2(LRRN2):c.1226G>A (p.Arg409His)	LRRN2 (R409H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214488	NM_201630.2(LRRN2):c.1948C>G (p.Leu650Val)	LRRN2 (L650V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 724972	NM_201630.2(LRRN2):c.687C>T (p.Ser229=)	LRRN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 63