"CSF3R-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 1033123	NM_000760.4(CSF3R):c.2041-30C>T	CSF3R (R698C)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency +3 more	GConflicting classifications of pathogenicity
Select item 3039490	NM_000760.4(CSF3R):c.2041-35T>C	CSF3R (M696T)	Single nucleotide variant (missense variant +1 more)	CSF3R-related disorder	GBenign
Select item 3037833	NM_000760.4(CSF3R):c.2041-46G>A	CSF3R	Single nucleotide variant (synonymous variant +1 more)	CSF3R-related disorder	GLikely benign
Select item 3040874	NM_000760.4(CSF3R):c.2041-89C>T	CSF3R	Single nucleotide variant (intron variant)	CSF3R-related disorder	GLikely benign
Select item 432324	NM_000760.4(CSF3R):c.1919C>T (p.Thr640Ile)	CSF3R (T640I)	Single nucleotide variant (missense variant)	CSF3R-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 542857	NM_000760.4(CSF3R):c.1856T>C (p.Leu619Ser)	CSF3R (L619S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 432323	NM_000760.4(CSF3R):c.1748G>A (p.Arg583His)	CSF3R (R583H)	Single nucleotide variant (missense variant)	CSF3R-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 715418	NM_000760.4(CSF3R):c.1723+8T>C	CSF3R	Single nucleotide variant (intron variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency +1 more	GBenign/Likely benign
Select item 1532741	NM_000760.4(CSF3R):c.1704C>T (p.Asn568=)	CSF3R	Single nucleotide variant (synonymous variant)	CSF3R-related disorder +1 more	GLikely benign
Select item 570920	NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter)	CSF3R (W547*)	Single nucleotide variant (nonsense)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency +4 more	GPathogenic/Likely pathogenic
Select item 2173385	NM_000760.4(CSF3R):c.1518C>T (p.Pro506=)	CSF3R	Single nucleotide variant (synonymous variant)	CSF3R-related disorder +1 more	GLikely benign
Select item 1361420	NM_000760.4(CSF3R):c.1409C>T (p.Ala470Val)	CSF3R (A470V)	Single nucleotide variant (missense variant)	CSF3R-related disorder +1 more	GUncertain significance
Select item 736598	NM_000760.4(CSF3R):c.1263G>A (p.Pro421=)	CSF3R	Single nucleotide variant (synonymous variant)	CSF3R-related disorder +1 more	GLikely benign
Select item 765695	NM_000760.4(CSF3R):c.1242C>T (p.Ala414=)	CSF3R	Single nucleotide variant (synonymous variant)	CSF3R-related disorder +1 more	GLikely benign
Select item 2918069	NM_000760.4(CSF3R):c.1072-3C>T	CSF3R	Single nucleotide variant (intron variant)	CSF3R-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 966698	NM_000760.4(CSF3R):c.973C>G (p.Leu325Val)	CSF3R (L325V)	Single nucleotide variant (missense variant)	CSF3R-related disorder +1 more	GUncertain significance
Select item 583118	NM_000760.4(CSF3R):c.903G>A (p.Thr301=)	CSF3R	Single nucleotide variant (synonymous variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency +1 more	GLikely benign
Select item 787744	NM_000760.4(CSF3R):c.704T>C (p.Met235Thr)	CSF3R (M235T)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency +2 more	GConflicting classifications of pathogenicity
Select item 3061525	NM_000760.4(CSF3R):c.543C>T (p.Asp181=)	CSF3R	Single nucleotide variant (synonymous variant)	CSF3R-related disorder	GLikely benign
Select item 434837	NM_000760.4(CSF3R):c.447G>C (p.Glu149Asp)	CSF3R (E149D)	Single nucleotide variant (missense variant)	CSF3R-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1410136	NM_000760.4(CSF3R):c.218dup (p.Arg74fs)	CSF3R (R74fs)	Duplication (frameshift variant)	CSF3R-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1132501	NM_000760.4(CSF3R):c.171G>A (p.Pro57=)	CSF3R	Single nucleotide variant (synonymous variant)	CSF3R-related disorder +1 more	GLikely benign
Select item 434838	NM_000760.4(CSF3R):c.108C>T (p.Val36=)	CSF3R	Single nucleotide variant (synonymous variant)	CSF3R-related disorder +3 more	GBenign/Likely benign
Select item 2073678	NM_000760.4(CSF3R):c.98C>A (p.Ala33Asp)	CSF3R (A33D)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency +2 more	GUncertain significance
Select item 1125907	NM_000760.4(CSF3R):c.93C>T (p.Val31=)	CSF3R	Single nucleotide variant (synonymous variant)	CSF3R-related disorder +2 more	GLikely benign

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Items: 30