LRRC18[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 107

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145479	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3	LOC130003758, LOC130003759 +309 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 144977	GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3	FAM170B, FAM170B-AS1 +306 more	Copy number gain	See cases	GPathogenic
Select item 2498203	NC_000010.11:g.45704708_(49974954_50015268)del	AGAP4, AGAP6 +122 more	Deletion	10q11.22q11.23 deletion syndrome	GLikely pathogenic
Select item 154709	GRCh38/hg38 10q11.22-11.23(chr10:45710242-49929364)x1	AGAP10, AGAP4 +118 more	Copy number loss	See cases	GPathogenic
Select item 58543	GRCh38/hg38 10q11.22-11.23(chr10:45710242-50151325)x1	AGAP10, AGAP4 +125 more	Copy number loss	See cases	GPathogenic
Select item 146781	GRCh38/hg38 10q11.22-11.23(chr10:45710248-50021141)x1	RBP3, SLC18A3 +123 more	Copy number loss	See cases	GPathogenic
Select item 151967	GRCh38/hg38 10q11.22-11.23(chr10:45788078-50066466)x1	AGAP10, AGAP4 +122 more	Copy number loss	See cases	GUncertain significance
Select item 3235900	GRCh38/hg38 10q11.22-11.23(chr10:45795500-50134000)	AGAP4, AGAP6 +122 more	Copy number loss	Pulmonary arterial hypertension	GLikely pathogenic
Select item 148682	GRCh38/hg38 10q11.22-11.23(chr10:45810008-50066466)x1	AGAP10, AGAP4 +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 154220	GRCh38/hg38 10q11.22-11.23(chr10:45931517-50035809)x3	AGAP10, AGAP6 +119 more	Copy number gain	See cases	GUncertain significance
Select item 150121	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP10, AGAP9 +114 more	Copy number loss	See cases	GLikely pathogenic
Select item 149971	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP9, ANTXRL +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 144985	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP10, AGAP9 +114 more	Copy number loss	See cases	GPathogenic
Select item 58551	GRCh38/hg38 10q11.22-11.23(chr10:45931517-50655311)x1	AGAP6, AGAP9 +147 more	Copy number loss	See cases	GPathogenic
Select item 150503	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1	AGAP9, ANTXRL +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 58548	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1	AGAP9, ANTXRL +112 more	Copy number loss	See cases	GUncertain significance
Select item 57411	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x3	AGAP9, ANTXRL +112 more	Copy number gain	See cases	GPathogenic
Select item 545135	Single allele	LOC130003791, LOC130003792 +109 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 148406	GRCh38/hg38 10q11.22-11.23(chr10:48084228-49929364)x3	ARHGAP22, ARHGAP22-IT1 +65 more	Copy number gain	See cases	GUncertain significance
Select item 57577	GRCh38/hg38 10q11.22-11.23(chr10:48173631-49920071)x3	ARHGAP22, ARHGAP22-IT1 +65 more	Copy number gain	See cases	GUncertain significance
Select item 2473068	NM_001378102.1(LRRC18):c.770G>A (p.Arg257His)	LRRC18, WDFY4 (R257H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359403	NM_001378102.1(LRRC18):c.744G>T (p.Lys248Asn)	LRRC18, WDFY4 (K248N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620552	NM_001378102.1(LRRC18):c.727C>T (p.Pro243Ser)	LRRC18, WDFY4 (P243S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382789	NM_001378102.1(LRRC18):c.635G>A (p.Arg212Lys)	LRRC18, WDFY4 (R212K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3120432	NM_001378102.1(LRRC18):c.625G>A (p.Ala209Thr)	LRRC18, WDFY4 (A209T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599880	NM_001378102.1(LRRC18):c.589A>C (p.Asn197His)	LRRC18, WDFY4 (N197H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371127	NM_001378102.1(LRRC18):c.554C>T (p.Ser185Leu)	LRRC18, WDFY4 (S185L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522555	NM_001378102.1(LRRC18):c.524A>G (p.Lys175Arg)	LRRC18, WDFY4 (K175R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295008	NM_001378102.1(LRRC18):c.514C>G (p.Leu172Val)	LRRC18, WDFY4 (L172V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374429	NM_001378102.1(LRRC18):c.490T>C (p.Ser164Pro)	LRRC18, WDFY4 (S164P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536641	NM_001378102.1(LRRC18):c.471C>A (p.Asn157Lys)	LRRC18, WDFY4 (N157K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276435	NM_001378102.1(LRRC18):c.442G>A (p.Glu148Lys)	LRRC18, WDFY4 (E148K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120431	NM_001378102.1(LRRC18):c.373G>A (p.Ala125Thr)	LRRC18, WDFY4 (A125T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3291510	NM_001378102.1(LRRC18):c.343G>A (p.Val115Met)	LRRC18, WDFY4 (V115M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489721	NM_001378102.1(LRRC18):c.285G>A (p.Met95Ile)	LRRC18, WDFY4 (M95I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466654	NM_001378102.1(LRRC18):c.275T>C (p.Ile92Thr)	LRRC18, WDFY4 (I92T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278168	NM_001378102.1(LRRC18):c.189G>C (p.Arg63Ser)	LRRC18, WDFY4 (R63S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120430	NM_001378102.1(LRRC18):c.142C>T (p.Arg48Cys)	LRRC18, WDFY4 (R48C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371412	NM_001378102.1(LRRC18):c.142C>A (p.Arg48Ser)	LRRC18, WDFY4 (R48S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214937	NM_001378102.1(LRRC18):c.79G>A (p.Asp27Asn)	LRRC18, WDFY4 (D27N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551231	NM_001378102.1(LRRC18):c.70A>G (p.Ile24Val)	LRRC18, WDFY4 (I24V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148882	GRCh37/hg19 10q11.22-11.23(chr10:46975077-51089085)x3	AGAP10, AGAP9 +28 more	Copy number gain	See cases	GUncertain significance
Select item 2684603	GRCh37/hg19 10q11.22-11.23(chr10:48349961-51817663)x3	AGAP6, ARHGAP22 +25 more	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2663790	NC_000010.10:g.(?_49383876)_(52383915_?)del	C10orf71, CHAT +22 more	Deletion	Cockayne syndrome type 2	GPathogenic
Select item 2580332	GRCh37/hg19 10q11.22-11.23(chr10:46284269-51870080)x1	AGAP10, AGAP4 +37 more	Copy number loss	See cases	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1879150	GRCh37/hg19 10q11.22-11.23(chr10:46584432-51974628)x3	AGAP10, AGAP6 +35 more	Copy number gain	not provided	GUncertain significance
Select item 1808699	GRCh37/hg19 10q11.22-11.23(chr10:46269493-51874356)x1	AGAP10, AGAP4 +37 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808685	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51700837)x1	AGAP10, AGAP9 +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807813	GRCh37/hg19 10q11.22-11.23(chr10:48252675-51861565)x1	PGBD3, PTPN20 +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807739	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51903756)x3	PGBD3, PTPN20 +34 more	Copy number gain	not provided	GUncertain significance
Select item 1711870	GRCh37/hg19 10q11.22-11.23(chr10:46287821-51627470)x1	AGAP10, AGAP4 +35 more	Copy number loss	See cases	GPathogenic
Select item 1707432	GRCh37/hg19 10q11.22-11.23(chr10:49378356-52467181)x1	ASAH2, AGAP6 +22 more	Copy number loss	See cases	GPathogenic
Select item 1703569	GRCh37/hg19 10q11.22-11.23(chr10:46576515-51680164)	AGAP10, AGAP9 +32 more	Copy number loss	Telangiectasia, hereditary hemorrhagic, type 5	GPathogenic
Select item 1340263	GRCh37/hg19 10q11.22-11.23(chr10:49378357-51134640)x1	ARHGAP22, C10orf53 +15 more	Copy number loss	not provided	GUncertain significance
Select item 1180522	GRCh37/hg19 10q11.22-11.23(chr10:48301535-51807296)x3	FAM170B, FAM25C +25 more	Copy number gain	not provided	GPathogenic
Select item 992645	GRCh37/hg19 10q11.22-11.23(chr10:46966535-51874356)x1	AGAP10, AGAP6 +34 more	Copy number loss	not provided	GLikely pathogenic
Select item 988905	GRCh37/hg19 10q11.22-11.23(chr10:49391938-51053159)x3	C10orf71, CHAT +15 more	Copy number gain	not provided	GUncertain significance
Select item 980917	GRCh37/hg19 10q11.22-11.23(chr10:49665178-50142153)x4	ARHGAP22, LRRC18 +1 more	Copy number gain	not provided	GUncertain significance
Select item 980916	GRCh37/hg19 10q11.22-11.23(chr10:48750425-51386904)x1	ARHGAP22, C10orf53 +17 more	Copy number loss	not provided	GUncertain significance
Select item 980915	GRCh37/hg19 10q11.22-11.23(chr10:49378356-51134640)x3	ARHGAP22, C10orf53 +15 more	Copy number gain	not provided	GLikely pathogenic
Select item 980914	GRCh37/hg19 10q11.22-11.23(chr10:47132305-51627470)x1	AGAP10, AGAP9 +29 more	Copy number loss	not provided	GLikely pathogenic
Select item 977791	GRCh37/hg19 10q11.22-11.23(chr10:46964973-51826226)	SLC18A3, SYT15 +33 more	Copy number loss	10q11.22q11.23 microdeletion including CHAT and SLC18A3	GPathogenic
Select item 974738	NC_000010.10:g.49033586_52417694del	CHAT, DRGX +23 more	Deletion	Megacolon	GLikely pathogenic
Select item 973065	GRCh37/hg19 10q11.22-11.23(chr10:46321318-51595050)x1	AGAP10, AGAP4 +33 more	Copy number loss	not provided	Gnot provided
Select item 815341	GRCh37/hg19 10q11.22-11.23(chr10:49389565-51122608)x1	VSTM4, CHAT +15 more	Copy number loss	not provided	GUncertain significance
Select item 689042	GRCh37/hg19 10q11.22-11.23(chr10:48106368-51250418)x1	AGAP9, ANXA8 +24 more	Copy number loss	not provided	GPathogenic
Select item 688266	GRCh37/hg19 10q11.22-11.23(chr10:46287086-51830366)x3	AGAP10, AGAP4 +37 more	Copy number gain	not provided	GUncertain significance
Select item 687599	GRCh37/hg19 10q11.22-11.23(chr10:48252674-51830366)x3	AGAP6, ANXA8 +27 more	Copy number gain	not provided	GUncertain significance
Select item 687117	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51850064)x3	AGAP10, AGAP6 +34 more	Copy number gain	not provided	GUncertain significance
Select item 686422	GRCh37/hg19 10q11.22-11.23(chr10:46235357-51874163)x1	AGAP10, AGAP4 +37 more	Copy number loss	not provided	GPathogenic
Select item 686364	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903755)x1	AGAP10, AGAP6 +34 more	Copy number loss	not provided	GPathogenic
Select item 686014	GRCh37/hg19 10q11.22-11.23(chr10:49378356-52467181)x3	AGAP6, ARHGAP22 +22 more	Copy number gain	not provided	GUncertain significance
Select item 685237	GRCh37/hg19 10q11.22-11.23(chr10:47148813-51626260)x3	AGAP10, AGAP9 +29 more	Copy number gain	not provided	GPathogenic
Select item 684951	GRCh37/hg19 10q11.22-11.23(chr10:49378356-51250418)x1	ARHGAP22, C10orf53 +15 more	Copy number loss	not provided	GPathogenic
Select item 625649	GRCh37/hg19 10q11.22-11.23(chr10:46544810-51743471)	AGAP10, AGAP9 +32 more	Copy number loss	not provided	GPathogenic
Select item 625591	GRCh37/hg19 10q11.22-11.23(chr10:48102606-50641752)	AGAP9, ANXA8 +17 more	Copy number loss	not provided	GPathogenic
Select item 624468	GRCh37/hg19 10q11.22-21.1(chr10:49390457-60061643)x1	MSMB, MTRNR2L5 +33 more	Copy number loss	not provided	GLikely pathogenic
Select item 563792	GRCh37/hg19 10q11.22-11.23(chr10:46225364-51874356)x1	NPY4R, OGDHL +37 more	Copy number loss	not provided	GLikely pathogenic
Select item 563791	GRCh37/hg19 10q11.22-11.23(chr10:46287821-51861565)x1	AGAP10, AGAP4 +37 more	Copy number loss	not provided	GPathogenic
Select item 563790	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903755)x1	AGAP10, AGAP6 +34 more	Copy number loss	not provided	GPathogenic
Select item 563789	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51874356)x1	NCOA4, NPY4R +34 more	Copy number loss	not provided	GLikely pathogenic
Select item 563788	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51822386)x3	AGAP10, AGAP6 +33 more	Copy number gain	not provided	GLikely pathogenic
Select item 563787	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51700837)x1	AGAP10, AGAP9 +32 more	Copy number loss	not provided	GPathogenic
Select item 563777	GRCh37/hg19 10q11.22-11.23(chr10:49378356-51113033)x3	PARG, OGDHL +15 more	Copy number gain	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 495230	NC_000010.10:g.43611191_61663279inv	CCDC6, ZNF32 +75 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 443526	GRCh37/hg19 10q11.22-11.23(chr10:49378357-51134640)x1	ARHGAP22, C10orf53 +15 more	Copy number loss	See cases	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 443095	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51848637)x3	AGAP10, AGAP6 +34 more	Copy number gain	See cases	GUncertain significance
Select item 442337	GRCh37/hg19 10q11.22-11.23(chr10:49381707-52467180)x3	ASAH2, C10orf53 +22 more	Copy number gain	See cases	GUncertain significance
Select item 442310	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903756)x1	AGAP10, AGAP6 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441949	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51903756)x1	AGAP10, AGAP6 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 441891	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51822386)x1	AGAP10, AGAP6 +33 more	Copy number loss	See cases	GLikely pathogenic

<< First< Prev

Page of 2