1441[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 149964	GRCh38/hg38 1p34.3(chr1:35934217-36821999)x4	ADPRS, AGO3 +50 more	Copy number gain	See cases	GLikely pathogenic
Select item 1227440	NC_000001.11:g.36465772C>T	CSF3R	Single nucleotide variant	not provided	GBenign
Select item 2635752	NM_000760.4(CSF3R):c.*173G>T	CSF3R (R755L)	Single nucleotide variant (3 prime UTR variant +1 more)	CSF3R-related disorder	GUncertain significance
Select item 1033121	NM_000760.4(CSF3R):c.*161G>A	CSF3R (G751E)	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 434832	NM_000760.4(CSF3R):c.2496G>A (p.Ala832=)	CSF3R	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 1805812	NM_000760.4(CSF3R):c.2495C>A (p.Ala832Glu)	CSF3R (A832E +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 1465651	NM_000760.4(CSF3R):c.2494_2495delinsAA (p.Ala832Lys)	CSF3R (A832K +1 more)	Indel (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 1417106	NM_000760.4(CSF3R):c.2495C>T (p.Ala832Val)	CSF3R (A832V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 745354	NM_000760.4(CSF3R):c.2484T>C (p.His828=)	CSF3R	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GBenign
Select item 658414	NM_000760.4(CSF3R):c.2483A>G (p.His828Arg)	CSF3R (H828R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 1019000	NM_000760.4(CSF3R):c.2477G>A (p.Arg826Gln)	CSF3R (R826Q +1 more)	Single nucleotide variant (intron variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 1938280	NM_000760.4(CSF3R):c.2476C>T (p.Arg826Trp)	CSF3R (R826W +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 2965597	NM_000760.4(CSF3R):c.2455T>A (p.Phe819Ile)	CSF3R (F819I +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 2604652	NM_000760.4(CSF3R):c.2455T>C (p.Phe819Leu)	CSF3R (F819L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1577959	NM_000760.4(CSF3R):c.2454C>T (p.Asn818=)	CSF3R	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GLikely benign
Select item 1078587	NM_000760.4(CSF3R):c.2451C>T (p.Leu817=)	CSF3R	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GLikely benign
Select item 2099812	NM_000760.4(CSF3R):c.2450T>C (p.Leu817Pro)	CSF3R (L817P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 1948411	NM_000760.4(CSF3R):c.2441G>A (p.Gly814Glu)	CSF3R (G841E +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 1355544	NM_000760.4(CSF3R):c.2434G>A (p.Val812Ile)	CSF3R (V812I +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 1980273	NM_000760.4(CSF3R):c.2429A>G (p.Asp810Gly)	CSF3R (D810G +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 1026532	NM_000760.4(CSF3R):c.2428G>A (p.Asp810Asn)	CSF3R (D810N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 720206	NM_000760.4(CSF3R):c.2427C>T (p.Asp809=)	CSF3R	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GLikely benign
Select item 2841346	NM_000760.4(CSF3R):c.2423A>G (p.Glu808Gly)	CSF3R (E808G +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 434833	NM_000760.4(CSF3R):c.2422G>A (p.Glu808Lys)	CSF3R (E808K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 2795327	NM_000760.4(CSF3R):c.2420A>G (p.Gln807Arg)	CSF3R (Q807R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 1398505	NM_000760.4(CSF3R):c.2417G>C (p.Ser806Thr)	CSF3R (S806T +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 784944	NM_000760.4(CSF3R):c.2407C>T (p.Pro803Ser)	CSF3R (P803S +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency +1 more	GLikely benign
Select item 1361007	NM_000760.4(CSF3R):c.2405C>T (p.Thr802Ile)	CSF3R (T829I +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency +1 more	GUncertain significance
Select item 1572345	NM_000760.4(CSF3R):c.2403A>G (p.Val801=)	CSF3R	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GLikely benign
Select item 1551187	NM_000760.4(CSF3R):c.2389T>C (p.Leu797=)	CSF3R	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GLikely benign
Select item 962850	NM_000760.4(CSF3R):c.2381C>T (p.Ala794Val)	CSF3R (A821V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 636923	NM_000760.4(CSF3R):c.2367C>T (p.Asn789=)	CSF3R	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1407680	NM_000760.4(CSF3R):c.2360A>G (p.Tyr787Cys)	CSF3R (Y814C +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency +1 more	GUncertain significance
Select item 2913690	NM_000760.4(CSF3R):c.2358C>T (p.Ser786=)	CSF3R	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GLikely benign
Select item 2127111	NM_000760.4(CSF3R):c.2349C>T (p.Ser783=)	CSF3R	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GLikely benign
Select item 729983	NM_000760.4(CSF3R):c.2334G>A (p.Ala778=)	CSF3R	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2485475	NM_000760.4(CSF3R):c.2333C>T (p.Ala778Val)	CSF3R (A778V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1996951	NM_000760.4(CSF3R):c.2333C>A (p.Ala778Glu)	CSF3R (A778E +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 476296	NM_000760.4(CSF3R):c.2325C>T (p.Pro775=)	CSF3R	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GLikely benign
Select item 1306154	NM_000760.4(CSF3R):c.2320C>T (p.Gln774Ter)	CSF3R (Q774* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1715885	NM_000760.4(CSF3R):c.2315C>G (p.Ser772Cys)	CSF3R (S772C +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 2683709	NM_000760.4(CSF3R):c.2309G>A (p.Cys770Tyr)	CSF3R (C770Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2903514	NM_000760.4(CSF3R):c.2306G>A (p.Arg769His)	CSF3R (R769H +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 2068646	NM_000760.4(CSF3R):c.2306G>T (p.Arg769Leu)	CSF3R (R769L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 2142768	NM_000760.4(CSF3R):c.2305C>T (p.Arg769Cys)	CSF3R (R796C +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 1379133	NM_000760.4(CSF3R):c.2293G>A (p.Gly765Arg)	CSF3R (G765R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1157355	NM_000760.4(CSF3R):c.2289G>A (p.Gly763=)	CSF3R	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency +1 more	GLikely benign
Select item 1973994	NM_000760.4(CSF3R):c.2280A>G (p.Thr760=)	CSF3R	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GLikely benign
Select item 841395	NM_000760.4(CSF3R):c.2279C>A (p.Thr760Lys)	CSF3R (T760K +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 2003428	NM_000760.4(CSF3R):c.2270G>C (p.Gly757Ala)	CSF3R (G784A +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 988435	NM_000760.4(CSF3R):c.2260C>T (p.Gln754Ter)	CSF3R (Q754* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 965749	NM_000760.4(CSF3R):c.2257G>A (p.Gly753Arg)	CSF3R (G753R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 1421035	NM_000760.4(CSF3R):c.2251C>T (p.Leu751Phe)	CSF3R (L778F +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 988434	NM_000760.4(CSF3R):c.2245C>T (p.Gln749Ter)	CSF3R (Q749* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency +1 more	GConflicting classifications of pathogenicity
Select item 582331	NM_000760.4(CSF3R):c.2242G>A (p.Asp748Asn)	CSF3R (D748N +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 1083992	NM_000760.4(CSF3R):c.2241C>T (p.Ser747=)	CSF3R	Single nucleotide variant (synonymous variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency +1 more	GLikely benign
Select item 842556	NM_000760.4(CSF3R):c.2237C>T (p.Thr746Ile)	CSF3R (T746I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 2821106	NM_000760.4(CSF3R):c.2235C>G (p.Gly745=)	CSF3R	Single nucleotide variant (synonymous variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GLikely benign
Select item 936367	NM_000760.4(CSF3R):c.2231C>T (p.Ser744Phe)	CSF3R (S744F +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 2023071	NM_000760.4(CSF3R):c.2227C>T (p.Gln743Ter)	CSF3R (Q770* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 1545896	NM_000760.4(CSF3R):c.2223A>G (p.Gln741=)	CSF3R	Single nucleotide variant (synonymous variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GLikely benign
Select item 988433	NM_000760.4(CSF3R):c.2221C>T (p.Gln741Ter)	CSF3R (Q741* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 988402	NM_000760.4(CSF3R):c.2215C>T (p.Gln739Ter)	CSF3R (Q739* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2176579	NM_000760.4(CSF3R):c.2213C>A (p.Thr738Asn)	CSF3R (T738N +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 734371	NM_000760.4(CSF3R):c.2211C>T (p.Ser737=)	CSF3R	Single nucleotide variant (synonymous variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency +1 more	GLikely benign
Select item 542862	NM_000760.4(CSF3R):c.2197C>A (p.Pro733Thr)	CSF3R (P733T +1 more)	Single nucleotide variant (missense variant)	CSF3R-related disorder +2 more	GBenign
Select item 1041232	NM_000760.4(CSF3R):c.2194G>A (p.Asp732Asn)	CSF3R (D759N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 434839	NM_000760.4(CSF3R):c.2192G>A (p.Gly731Glu)	CSF3R (G731E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2772779	NM_000760.4(CSF3R):c.2156_2187dup (p.Gln730fs)	CSF3R (Q757fs +1 more)	Duplication (frameshift variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 1153400	NM_000760.4(CSF3R):c.2187C>T (p.Leu729=)	CSF3R	Single nucleotide variant (synonymous variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GLikely benign
Select item 1043993	NM_000760.4(CSF3R):c.2167C>G (p.Leu723Val)	CSF3R (L750V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency +1 more	GUncertain significance
Select item 1163139	NM_000760.4(CSF3R):c.2165C>T (p.Thr722Ile)	CSF3R (T722I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1408240	NM_000760.4(CSF3R):c.2164A>G (p.Thr722Ala)	CSF3R (T722A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 1672631	NM_000760.4(CSF3R):c.2163C>G (p.Pro721=)	CSF3R	Single nucleotide variant (synonymous variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GLikely benign
Select item 2993537	NM_000760.4(CSF3R):c.2160C>T (p.Leu720=)	CSF3R	Single nucleotide variant (synonymous variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GLikely benign
Select item 751347	NM_000760.4(CSF3R):c.2157C>T (p.Gly719=)	CSF3R	Single nucleotide variant (synonymous variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GLikely benign
Select item 2478159	NM_000760.4(CSF3R):c.2153G>T (p.Cys718Phe)	CSF3R (C745F +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency +1 more	GUncertain significance
Select item 988352	NM_000760.4(CSF3R):c.2134C>T (p.His712Tyr)	CSF3R (H712Y +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1368378	NM_000760.4(CSF3R):c.2132C>T (p.Ser711Phe)	CSF3R (S711F +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency +1 more	GUncertain significance
Select item 665158	NM_000760.4(CSF3R):c.2130G>C (p.Glu710Asp)	CSF3R (E710D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency +1 more	GUncertain significance
Select item 1879084	NM_000760.4(CSF3R):c.2128G>A (p.Glu710Lys)	CSF3R (E710K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 988436	NM_000760.4(CSF3R):c.2127G>A (p.Trp709Ter)	CSF3R (W709* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2851239	NM_000760.4(CSF3R):c.2123C>T (p.Pro708Leu)	CSF3R (P708L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 1096475	NM_000760.4(CSF3R):c.2121G>A (p.Val707=)	CSF3R	Single nucleotide variant (synonymous variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GLikely benign
Select item 2809677	NM_000760.4(CSF3R):c.2118G>T (p.Pro706=)	CSF3R	Single nucleotide variant (synonymous variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GLikely benign
Select item 757592	NM_000760.4(CSF3R):c.2118G>A (p.Pro706=)	CSF3R	Single nucleotide variant (synonymous variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GLikely benign
Select item 1037231	NM_000760.4(CSF3R):c.2117C>T (p.Pro706Leu)	CSF3R (P706L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency +1 more	GUncertain significance
Select item 2724456	NM_000760.4(CSF3R):c.2115G>A (p.Lys705=)	CSF3R	Single nucleotide variant (synonymous variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency +1 more	GLikely benign
Select item 2989630	NM_000760.4(CSF3R):c.2112G>T (p.Lys704Asn)	CSF3R (K704N +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 1158603	NM_000760.4(CSF3R):c.2106T>C (p.Asp702=)	CSF3R	Single nucleotide variant (synonymous variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GLikely benign
Select item 2868289	NM_000760.4(CSF3R):c.2094G>C (p.Val698=)	CSF3R	Single nucleotide variant (synonymous variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GLikely benign
Select item 1935286	NM_000760.4(CSF3R):c.2086C>T (p.Leu696Phe)	CSF3R (L696F +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 2143994	NM_000760.4(CSF3R):c.2074C>T (p.Pro692Ser)	CSF3R (P719S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 844038	NM_000760.4(CSF3R):c.2072C>T (p.Pro691Leu)	CSF3R (P691L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency +1 more	GUncertain significance
Select item 2768524	NM_000760.4(CSF3R):c.2070G>A (p.Thr690=)	CSF3R	Single nucleotide variant (synonymous variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GLikely benign
Select item 1379822	NM_000760.4(CSF3R):c.2069C>T (p.Thr690Met)	CSF3R (T690M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance
Select item 2543468	NM_000760.4(CSF3R):c.2060G>A (p.Gly687Asp)	CSF3R (G687D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 851011	NM_000760.4(CSF3R):c.2059G>A (p.Gly687Ser)	CSF3R (G714S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GUncertain significance

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