ClinVar (all) for Orgtrack (Select 505271) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619010	NM_000206.3(IL2RG):c.87del (p.Asn31fs)	IL2RG, LOC126863274 (N31fs)	Deletion (frameshift variant)	X-linked severe combined immunodeficiency	GPathogenic
Select item 598791	NM_001354930.2(RIPK1):c.1802G>A (p.Cys601Tyr)	RIPK1 (C601Y +2 more)	Single nucleotide variant (missense variant)	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome +1 more	GPathogenic
Select item 598790	NM_001354930.2(RIPK1):c.954del (p.Met318fs)	RIPK1 (M318fs +2 more)	Deletion (frameshift variant)	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome +2 more	GPathogenic/Likely pathogenic
Select item 598789	NM_001354930.2(RIPK1):c.1278C>A (p.Tyr426Ter)	RIPK1 (Y426* +2 more)	Single nucleotide variant (nonsense)	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome +1 more	GPathogenic
Select item 598788	NM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met)	RIPK1 (T645M +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 598787	NM_001354930.2(RIPK1):c.1844T>C (p.Ile615Thr)	RIPK1 (I615T +2 more)	Single nucleotide variant (missense variant)	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome +1 more	GPathogenic
Select item 488346	NM_000660.7(TGFB1):c.1159T>C (p.Cys387Arg)	TGFB1 (C387R)	Single nucleotide variant (missense variant)	Inflammatory bowel disease, immunodeficiency, and encephalopathy	GLikely pathogenic
Select item 488345	NM_000660.7(TGFB1):c.328C>T (p.Arg110Cys)	TGFB1, LOC130064510 (R110C)	Single nucleotide variant (missense variant)	Inflammatory bowel disease, immunodeficiency, and encephalopathy	GLikely pathogenic
Select item 487577	NM_000660.7(TGFB1):c.133C>T (p.Arg45Cys)	LOC130064510, TGFB1 (R45C)	Single nucleotide variant (missense variant)	Inflammatory bowel disease, immunodeficiency, and encephalopathy	GLikely pathogenic
Select item 427985	NM_156039.3(CSF3R):c.[1245delG];[948_963del16]			Severe congenital neutropenia	GPathogenic
Select item 266036	NM_001013838.3(CARMIL2):c.871+1G>T	CARMIL2	Single nucleotide variant (splice donor variant)	Combined immunodeficiency +1 more	GPathogenic
Select item 266035	NM_001013838.3(CARMIL2):c.490dup (p.Ala164fs)	CARMIL2 (A164fs)	Duplication (frameshift variant)	Combined immunodeficiency +1 more	GPathogenic
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 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 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 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 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 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 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

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Items: 21