ClinVar for Gene (Select 9684) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3291528	NM_001024678.4(LRRC24):c.689G>A (p.Arg230Lys)	LRRC14, LRRC24 (R230K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291527	NM_001024678.4(LRRC24):c.1096C>T (p.Arg366Trp)	LOC130001413, LRRC14 +1 more (R366W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291526	NM_001024678.4(LRRC24):c.709G>A (p.Ala237Thr)	LRRC14, LRRC24 (A237T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291525	NM_001024678.4(LRRC24):c.1156G>C (p.Glu386Gln)	LOC130001413, LRRC14 +1 more (E386Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291523	NM_001024678.4(LRRC24):c.127G>A (p.Val43Ile)	LRRC14, LRRC24 (V43I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291485	NM_014665.4(LRRC14):c.482C>T (p.Ala161Val)	LRRC14 (A161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291484	NM_014665.4(LRRC14):c.583C>G (p.Leu195Val)	LRRC14 (L195V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291483	NM_014665.4(LRRC14):c.860G>A (p.Arg287His)	LRRC14 (R287H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291482	NM_014665.4(LRRC14):c.25A>G (p.Thr9Ala)	LRRC14 (T9A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242323	GRCh37/hg19 8q24.3(chr8:145033578-146296885)x3	ADCK5, ARHGAP39 +44 more	Copy number gain	not provided	GUncertain significance
Select item 3120470	NM_001024678.4(LRRC24):c.982G>T (p.Gly328Cys)	LOC130001413, LRRC14 +1 more (G328C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120469	NM_001024678.4(LRRC24):c.944T>A (p.Leu315Gln)	LRRC14, LRRC24 (L315Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120468	NM_001024678.4(LRRC24):c.908G>A (p.Arg303Gln)	LRRC14, LRRC24 (R303Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120467	NM_001024678.4(LRRC24):c.817C>A (p.Leu273Met)	LRRC14, LRRC24 (L273M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120466	NM_001024678.4(LRRC24):c.565G>A (p.Ala189Thr)	LRRC14, LRRC24 (A189T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120465	NM_001024678.4(LRRC24):c.428T>C (p.Leu143Ser)	LRRC14, LRRC24 (L143S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120464	NM_001024678.4(LRRC24):c.407G>A (p.Arg136Gln)	LRRC14, LRRC24 (R136Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3120463	NM_001024678.4(LRRC24):c.373C>A (p.Arg125Ser)	LRRC14, LRRC24 (R125S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120462	NM_001024678.4(LRRC24):c.350C>T (p.Ala117Val)	LRRC14, LRRC24 (A117V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120461	NM_001024678.4(LRRC24):c.29C>T (p.Pro10Leu)	LRRC14, LRRC24 (P10L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3120460	NM_001024678.4(LRRC24):c.1433C>T (p.Pro478Leu)	LRRC14, LRRC24 (P478L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120459	NM_001024678.4(LRRC24):c.1399G>A (p.Gly467Ser)	LRRC14, LRRC24 (G467S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120458	NM_001024678.4(LRRC24):c.1319G>A (p.Gly440Glu)	LRRC14, LRRC24 (G440E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120456	NM_001024678.4(LRRC24):c.1288C>G (p.Arg430Gly)	LRRC14, LRRC24 (R430G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120402	NM_014665.4(LRRC14):c.917C>A (p.Thr306Asn)	LRRC14 (T306N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120401	NM_014665.4(LRRC14):c.840G>A (p.Met280Ile)	LRRC14 (M280I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120400	NM_014665.4(LRRC14):c.667C>T (p.Arg223Cys)	LRRC14 (R223C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120399	NM_014665.4(LRRC14):c.457G>T (p.Gly153Cys)	LRRC14 (G153C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120398	NM_014665.4(LRRC14):c.434G>A (p.Arg145His)	LRRC14 (R145H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120397	NM_014665.4(LRRC14):c.418A>T (p.Thr140Ser)	LRRC14 (T140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120396	NM_014665.4(LRRC14):c.257A>G (p.Gln86Arg)	LRRC14 (Q86R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120395	NM_014665.4(LRRC14):c.1187G>A (p.Arg396Gln)	LRRC14 (R396Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120394	NM_014665.4(LRRC14):c.1172A>G (p.Gln391Arg)	LRRC14 (Q391R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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	NRBP2, NSMCE2 +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 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 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 2614475	NM_014665.4(LRRC14):c.1003G>A (p.Ala335Thr)	LRRC14 (A335T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603397	NM_001024678.4(LRRC24):c.574C>A (p.Pro192Thr)	LRRC14, LRRC24 (P192T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591389	NM_001024678.4(LRRC24):c.1490C>G (p.Ala497Gly)	LRRC14, LRRC24 (A497G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588138	NM_001024678.4(LRRC24):c.1272G>C (p.Met424Ile)	LRRC14, LRRC24 (M424I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2566968	NM_014665.4(LRRC14):c.466G>A (p.Ala156Thr)	LRRC14 (A156T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2536753	NM_001024678.4(LRRC24):c.64G>C (p.Gly22Arg)	LRRC14, LRRC24 (G22R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526234	NM_001024678.4(LRRC24):c.1378G>C (p.Glu460Gln)	LRRC14, LRRC24 (E460Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489032	NM_014665.4(LRRC14):c.394G>A (p.Gly132Ser)	LRRC14 (G132S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486942	NM_014665.4(LRRC14):c.1363G>A (p.Glu455Lys)	LRRC14 (E455K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486471	NM_014665.4(LRRC14):c.344G>T (p.Arg115Leu)	LRRC14 (R115L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483683	NM_014665.4(LRRC14):c.844C>G (p.Arg282Gly)	LRRC14 (R282G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474808	NM_014665.4(LRRC14):c.142C>T (p.Arg48Cys)	LRRC14 (R48C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469516	NM_014665.4(LRRC14):c.1325C>T (p.Pro442Leu)	LRRC14 (P442L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425051	NC_000008.10:g.(?_145741748)_(145958266_?)del	ARHGAP39, C8orf82 +4 more	Deletion	Baller-Gerold syndrome	GPathogenic
Select item 2410347	NM_014665.4(LRRC14):c.1378G>A (p.Val460Ile)	LRRC14 (V460I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400607	NM_014665.4(LRRC14):c.235C>T (p.Arg79Trp)	LRRC14 (R79W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393959	NM_014665.4(LRRC14):c.808G>A (p.Glu270Lys)	LRRC14 (E270K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393643	NM_014665.4(LRRC14):c.575C>T (p.Pro192Leu)	LRRC14 (P192L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390344	NM_001024678.4(LRRC24):c.41T>C (p.Leu14Pro)	LRRC14, LRRC24 (L14P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381359	NM_001024678.4(LRRC24):c.340C>G (p.Arg114Gly)	LRRC14, LRRC24 (R114G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374193	NM_001024678.4(LRRC24):c.998G>A (p.Ser333Asn)	LOC130001413, LRRC14 +1 more (S333N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356065	NM_014665.4(LRRC14):c.622C>T (p.Arg208Cys)	LRRC14 (R208C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353498	NM_001024678.4(LRRC24):c.319A>C (p.Ser107Arg)	LRRC14, LRRC24 (S107R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329333	NM_001024678.4(LRRC24):c.646G>C (p.Gly216Arg)	LRRC14, LRRC24 (G216R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329064	NM_001024678.4(LRRC24):c.1304C>T (p.Ala435Val)	LRRC14, LRRC24 (A435V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325977	NM_014665.4(LRRC14):c.908T>C (p.Leu303Pro)	LRRC14 (L303P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322557	NM_001024678.4(LRRC24):c.1486G>A (p.Gly496Arg)	LRRC14, LRRC24 (G496R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322231	NM_001024678.4(LRRC24):c.1165C>T (p.Pro389Ser)	LOC130001413, LRRC14 +1 more (P389S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320949	NM_001024678.4(LRRC24):c.1454C>A (p.Ala485Glu)	LRRC14, LRRC24 (A485E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301733	NM_001024678.4(LRRC24):c.562G>C (p.Glu188Gln)	LRRC14, LRRC24 (E188Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297192	NM_014665.4(LRRC14):c.668G>A (p.Arg223His)	LRRC14 (R223H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283850	NM_001024678.4(LRRC24):c.1304C>A (p.Ala435Glu)	LRRC14, LRRC24 (A435E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279062	NM_014665.4(LRRC14):c.158C>G (p.Thr53Arg)	LRRC14 (T53R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258489	NM_001024678.4(LRRC24):c.660G>C (p.Lys220Asn)	LRRC14, LRRC24 (K220N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245559	NM_014665.4(LRRC14):c.992G>A (p.Arg331Gln)	LRRC14 (R331Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2245074	NM_014665.4(LRRC14):c.217C>T (p.Arg73Cys)	LRRC14 (R73C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243791	NM_014665.4(LRRC14):c.1071G>C (p.Gln357His)	LRRC14 (Q357H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236081	NM_014665.4(LRRC14):c.510C>A (p.Asp170Glu)	LRRC14 (D170E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230251	NM_001024678.4(LRRC24):c.1316C>T (p.Pro439Leu)	LRRC14, LRRC24 (P439L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216441	NM_001024678.4(LRRC24):c.1292G>A (p.Arg431Lys)	LRRC14, LRRC24 (R431K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 1187315	NC_000008.11:g.144518144C>T	LOC130001411, LRRC14 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
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	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +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

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