LRRC14[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 113

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	PARP10, PCAT1 +1690 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130000867, LOC130000868 +1686 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC130001282, LOC130001283 +1552 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	AARD, ABRA +1531 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1329 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130001243, LOC130001244 +1204 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001328, LOC130001329 +1067 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC114827840, LOC121331310 +961 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC129390060, LOC129929031 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	LOC126860527, LOC126860528 +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	LOC130001259, LOC130001260 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	MIR10400, MIR1234 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 57047	GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3	ADCK5, ARHGAP39 +120 more	Copy number gain	See cases	GPathogenic
Select item 144948	GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1	ADCK5, ARHGAP39 +74 more	Copy number loss	See cases	GBenign
Select item 58433	GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3	ADCK5, ARHGAP39 +73 more	Copy number gain	See cases	GUncertain significance
Select item 151550	GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3	ADCK5, ARHGAP39 +58 more	Copy number gain	See cases	GLikely benign
Select item 58434	GRCh38/hg38 8q24.3(chr8:144375621-144605333)x3	ADCK5, ARHGAP39 +47 more	Copy number gain	See cases	GUncertain significance
Select item 152001	GRCh38/hg38 8q24.3(chr8:144468986-144535245)x3	ARHGAP39, C8orf82 +21 more	Copy number gain	See cases	GBenign
Select item 1187315	NM_014665.4(LRRC14):c.-112+103C>T	LOC130001411, LRRC14 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 403369	NM_014665.4(LRRC14):c.73T>C (p.Leu25=)	LRRC14, RECQL4	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2474808	NM_014665.4(LRRC14):c.142C>T (p.Arg48Cys)	LRRC14 (R48C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279062	NM_014665.4(LRRC14):c.158C>G (p.Thr53Arg)	LRRC14 (T53R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245074	NM_014665.4(LRRC14):c.217C>T (p.Arg73Cys)	LRRC14 (R73C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400607	NM_014665.4(LRRC14):c.235C>T (p.Arg79Trp)	LRRC14 (R79W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486471	NM_014665.4(LRRC14):c.344G>T (p.Arg115Leu)	LRRC14 (R115L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489032	NM_014665.4(LRRC14):c.394G>A (p.Gly132Ser)	LRRC14 (G132S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2566968	NM_014665.4(LRRC14):c.466G>A (p.Ala156Thr)	LRRC14 (A156T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2236081	NM_014665.4(LRRC14):c.510C>A (p.Asp170Glu)	LRRC14 (D170E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393643	NM_014665.4(LRRC14):c.575C>T (p.Pro192Leu)	LRRC14 (P192L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356065	NM_014665.4(LRRC14):c.622C>T (p.Arg208Cys)	LRRC14 (R208C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297192	NM_014665.4(LRRC14):c.668G>A (p.Arg223His)	LRRC14 (R223H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393959	NM_014665.4(LRRC14):c.808G>A (p.Glu270Lys)	LRRC14 (E270K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483683	NM_014665.4(LRRC14):c.844C>G (p.Arg282Gly)	LRRC14 (R282G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325977	NM_014665.4(LRRC14):c.908T>C (p.Leu303Pro)	LRRC14 (L303P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245559	NM_014665.4(LRRC14):c.992G>A (p.Arg331Gln)	LRRC14 (R331Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2614475	NM_014665.4(LRRC14):c.1003G>A (p.Ala335Thr)	LRRC14 (A335T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243791	NM_014665.4(LRRC14):c.1071G>C (p.Gln357His)	LRRC14 (Q357H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469516	NM_014665.4(LRRC14):c.1325C>T (p.Pro442Leu)	LRRC14 (P442L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486942	NM_014665.4(LRRC14):c.1363G>A (p.Glu455Lys)	LRRC14 (E455K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410347	NM_014665.4(LRRC14):c.1378G>A (p.Val460Ile)	LRRC14 (V460I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591389	NM_001024678.4(LRRC24):c.1490C>G (p.Ala497Gly)	LRRC14, LRRC24 (A497G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322557	NM_001024678.4(LRRC24):c.1486G>A (p.Gly496Arg)	LRRC24, LRRC14 (G496R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320949	NM_001024678.4(LRRC24):c.1454C>A (p.Ala485Glu)	LRRC24, LRRC14 (A485E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526234	NM_001024678.4(LRRC24):c.1378G>C (p.Glu460Gln)	LRRC14, LRRC24 (E460Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230251	NM_001024678.4(LRRC24):c.1316C>T (p.Pro439Leu)	LRRC24, LRRC14 (P439L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329064	NM_001024678.4(LRRC24):c.1304C>T (p.Ala435Val)	LRRC14, LRRC24 (A435V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283850	NM_001024678.4(LRRC24):c.1304C>A (p.Ala435Glu)	LRRC24, LRRC14 (A435E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216441	NM_001024678.4(LRRC24):c.1292G>A (p.Arg431Lys)	LRRC14, LRRC24 (R431K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588138	NM_001024678.4(LRRC24):c.1272G>C (p.Met424Ile)	LRRC14, LRRC24 (M424I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322231	NM_001024678.4(LRRC24):c.1165C>T (p.Pro389Ser)	LRRC14, LOC130001413 +1 more (P389S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2658997	NM_001024678.4(LRRC24):c.1113G>A (p.Gln371=)	LOC130001413, LRRC14 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2374193	NM_001024678.4(LRRC24):c.998G>A (p.Ser333Asn)	LRRC14, LRRC24 +1 more (S333N)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2658998	NM_001024678.4(LRRC24):c.837T>A (p.Val279=)	LRRC14, LRRC24	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2258489	NM_001024678.4(LRRC24):c.660G>C (p.Lys220Asn)	LRRC24, LRRC14 (K220N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329333	NM_001024678.4(LRRC24):c.646G>C (p.Gly216Arg)	LRRC24, LRRC14 (G216R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603397	NM_001024678.4(LRRC24):c.574C>A (p.Pro192Thr)	LRRC14, LRRC24 (P192T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301733	NM_001024678.4(LRRC24):c.562G>C (p.Glu188Gln)	LRRC14, LRRC24 (E188Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2381359	NM_001024678.4(LRRC24):c.340C>G (p.Arg114Gly)	LRRC14, LRRC24 (R114G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353498	NM_001024678.4(LRRC24):c.319A>C (p.Ser107Arg)	LRRC24, LRRC14 (S107R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536753	NM_001024678.4(LRRC24):c.64G>C (p.Gly22Arg)	LRRC14, LRRC24 (G22R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390344	NM_001024678.4(LRRC24):c.41T>C (p.Leu14Pro)	LRRC14, LRRC24 (L14P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063034	GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3	ADCK5, ARHGAP39 +63 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3063006	GRCh37/hg19 8q24.3(chr8:145738467-146076759)x3	ARHGAP39, C8orf82 +9 more	Copy number gain	not specified	GUncertain significance
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	LY6E, LY6H +173 more	Copy number gain	not provided	GPathogenic
Select item 2684562	GRCh37/hg19 8q24.3(chr8:145080420-146258478)x3	ADCK5, ARHGAP39 +40 more	Copy number gain	not provided	GUncertain significance
Select item 2684556	GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3	ADCK5, ADGRB1 +95 more	Copy number gain	not provided	GPathogenic
Select item 2425051	NC_000008.10:g.(?_145741748)_(145958266_?)del	ARHGAP39, C8orf82 +4 more	Deletion	Baller-Gerold syndrome	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527465	GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771)	ADCK5, ADCY8 +117 more	Copy number gain	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1458633	NC_000008.10:g.(?_145742531)_(145747630_?)del	LRRC14, RECQL4	Deletion	Baller-Gerold syndrome	GPathogenic
Select item 988937	GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3	HGH1, MIR1234 +44 more	Copy number gain	not provided	GUncertain significance
Select item 980336	GRCh37/hg19 8q24.3(chr8:145555125-145779806)x3	MIR1234, PPP1R16A +19 more	Copy number gain	not provided	GUncertain significance
Select item 979858	GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3	ADCK5, ARHGAP39 +69 more	Copy number gain	not provided	GLikely pathogenic
Select item 815169	GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3	ADCK5, ADCY8 +119 more	Copy number gain	not provided	GPathogenic
Select item 815163	GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3	ADGRB1, ADCY8 +155 more	Copy number gain	not provided	GPathogenic
Select item 689071	GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3	ADCK5, ADCY8 +150 more	Copy number gain	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 687148	GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3	ADCK5, ARHGAP39 +70 more	Copy number gain	not provided	GUncertain significance
Select item 686570	GRCh37/hg19 8q24.3(chr8:145695493-145798535)x3	ARHGAP39, C8orf82 +8 more	Copy number gain	not provided	GUncertain significance
Select item 686463	GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3	ADCK5, ADGRB1 +100 more	Copy number gain	not provided	GPathogenic
Select item 686106	GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3	ADCK5, ADGRB1 +99 more	Copy number gain	not provided	GPathogenic
Select item 686073	GRCh37/hg19 8q24.3(chr8:145645435-145881333)x1	ARHGAP39, C8orf82 +11 more	Copy number loss	not provided	GUncertain significance
Select item 684997	GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3	ADCK5, ADCY8 +132 more	Copy number gain	not provided	GPathogenic
Select item 563555	GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3	ADCK5, ADCY8 +151 more	Copy number gain	not provided	GPathogenic
Select item 563531	GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3	ZFP41, ZFTRAF1 +80 more	Copy number gain	not provided	GPathogenic

<< First< Prev

Page of 2