LRRC36[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59491	GRCh38/hg38 16q21-22.1(chr16:62179331-67770414)x1	ACD, AGRP +176 more	Copy number loss	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 59493	GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	ACD, AGRP +217 more	Copy number loss	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 145310	GRCh38/hg38 16q21-22.1(chr16:66245888-67473023)x1	ATP6V0D1, B3GNT9 +113 more	Copy number loss	See cases	GPathogenic
Select item 59494	GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1	ACD, AGRP +155 more	Copy number loss	See cases	GPathogenic
Select item 148293	GRCh38/hg38 16q22.1(chr16:66893204-67357178)x3	B3GNT9, CBFB +70 more	Copy number gain	See cases	GUncertain significance
Select item 2546896	NM_018296.6(LRRC36):c.74T>C (p.Leu25Pro)	LRRC36 (L25P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120579	NM_018296.6(LRRC36):c.77T>G (p.Val26Gly)	LRRC36 (V26G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291577	NM_018296.6(LRRC36):c.242A>G (p.Tyr81Cys)	LRRC36 (Y81C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270084	NM_018296.6(LRRC36):c.406C>A (p.Arg136Ser)	LRRC36 (R15S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489470	NM_018296.6(LRRC36):c.463A>G (p.Asn155Asp)	LRRC36 (N155D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120577	NM_018296.6(LRRC36):c.563G>A (p.Ser188Asn)	LRRC36 (S67N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3120578	NM_018296.6(LRRC36):c.598A>C (p.Ile200Leu)	LRRC36 (I200L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260358	NM_018296.6(LRRC36):c.715G>A (p.Ala239Thr)	LRRC36 (A118T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465217	NM_018296.6(LRRC36):c.770C>T (p.Ser257Leu)	LRRC36 (S136L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291578	NM_018296.6(LRRC36):c.791G>C (p.Arg264Pro)	LRRC36 (R143P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511590	NM_018296.6(LRRC36):c.794C>T (p.Ser265Phe)	LRRC36 (S144F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291579	NM_018296.6(LRRC36):c.959A>C (p.His320Pro)	LRRC36 (H199P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213676	NM_018296.6(LRRC36):c.1156C>A (p.Pro386Thr)	LRRC36 (P386T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334420	NM_018296.6(LRRC36):c.1172G>A (p.Gly391Glu)	LRRC36 (G391E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469972	NM_018296.6(LRRC36):c.1246G>A (p.Val416Ile)	LRRC36 (V295I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353759	NM_018296.6(LRRC36):c.1291C>T (p.His431Tyr)	LRRC36 (H431Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291582	NM_018296.6(LRRC36):c.1312G>A (p.Ala438Thr)	LRRC36 (A317T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120570	NM_018296.6(LRRC36):c.1321G>A (p.Gly441Arg)	LRRC36 (G441R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120571	NM_018296.6(LRRC36):c.1334C>T (p.Thr445Ile)	LRRC36 (T324I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209400	NM_018296.6(LRRC36):c.1343G>C (p.Arg448Pro)	LRRC36 (R448P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291580	NM_018296.6(LRRC36):c.1456A>G (p.Asn486Asp)	LRRC36 (N365D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623468	NM_018296.6(LRRC36):c.1502C>T (p.Ser501Phe)	LRRC36 (S380F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624280	NM_018296.6(LRRC36):c.1594C>T (p.Leu532Phe)	LRRC36 (L532F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369080	NM_018296.6(LRRC36):c.1697C>T (p.Pro566Leu)	LRRC36 (P566L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291581	NM_018296.6(LRRC36):c.1754G>A (p.Cys585Tyr)	LRRC36 (C585Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311800	NM_018296.6(LRRC36):c.1757G>A (p.Arg586Lys)	LRRC36 (R465K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348087	NM_018296.6(LRRC36):c.1805T>C (p.Met602Thr)	LRRC36 (M481T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120572	NM_018296.6(LRRC36):c.1828G>C (p.Val610Leu)	LRRC36 (V489L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120573	NM_018296.6(LRRC36):c.1891G>C (p.Ala631Pro)	LRRC36 (A510P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120574	NM_018296.6(LRRC36):c.1934A>T (p.Asp645Val)	LRRC36 (D524V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120575	NM_018296.6(LRRC36):c.1967A>G (p.Gln656Arg)	LRRC36 (Q656R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274612	NM_018296.6(LRRC36):c.2087A>G (p.Asn696Ser)	LRRC36 (N696S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120576	NM_018296.6(LRRC36):c.2089A>G (p.Lys697Glu)	LRRC36 (K697E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	AARS1, ACD +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815823	GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1	EXOC3L1, ESRP2 +95 more	Copy number loss	not provided	GPathogenic
Select item 625609	GRCh37/hg19 16q22.1(chr16:67132790-68166320)	ACD, AGRP +47 more	Copy number loss	not provided	GPathogenic
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442784	GRCh37/hg19 16q21-22.1(chr16:66537021-67369281)x3	B3GNT9, CA7 +35 more	Copy number gain	See cases	GUncertain significance
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 65