C1853118[trait identifier] AND "Klein lab, Ludwig-Maximilians-Universi - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 161982	NM_000760.4(CSF3R):c.922C>T (p.Arg308Cys)	CSF3R (R308C)	Single nucleotide variant (missense variant)	Severe congenital neutropenia +1 more	GPathogenic/Likely pathogenic
Select item 156113	NM_032492.4(JAGN1):c.3G>A (p.Met1Ile)	JAGN1 (M1I)	Single nucleotide variant (5 prime UTR variant +2 more)	Severe congenital neutropenia +2 more	GConflicting classifications of pathogenicity
Select item 156117	NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del)	JAGN1	Deletion (5 prime UTR variant +1 more)	Severe congenital neutropenia +1 more	GConflicting classifications of pathogenicity
Select item 190480	NM_032492.4(JAGN1):c.40G>A (p.Gly14Ser)	JAGN1 (G14S)	Single nucleotide variant (5 prime UTR variant +1 more)	Severe congenital neutropenia +1 more	GConflicting classifications of pathogenicity
Select item 190479	NM_032492.4(JAGN1):c.59G>A (p.Arg20Gln)	JAGN1 (R20Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 156115	NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp)	JAGN1 (E21D)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 156114	NM_032492.4(JAGN1):c.130C>T (p.His44Tyr)	JAGN1 (H44Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 190481	NM_032492.4(JAGN1):c.297C>G (p.Tyr99Ter)	JAGN1 (Y99* +1 more)	Single nucleotide variant (nonsense)	Severe congenital neutropenia	GPathogenic
Select item 156116	NM_032492.4(JAGN1):c.485A>G (p.Gln162Arg)	JAGN1 (Q162R +1 more)	Single nucleotide variant (missense variant)	Severe congenital neutropenia	GPathogenic
Select item 427985	NM_156039.3(CSF3R):c.[1245delG];[948_963del16]			Severe congenital neutropenia	GPathogenic