ClinVar for MedGen (Select 343974) - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2429217	NM_006118.4(HAX1):c.601C>T (p.Gln201Ter)	HAX1 (Q153* +1 more)	Single nucleotide variant (nonsense)	Severe congenital neutropenia	GLikely pathogenic
Select item 2170392	NM_006118.4(HAX1):c.556+1G>A	HAX1	Single nucleotide variant (splice donor variant)	Severe congenital neutropenia +1 more	GLikely pathogenic
Select item 812885	NM_000760.4(CSF3R):c.340C>T (p.Gln114Ter)	CSF3R (Q114*)	Single nucleotide variant (nonsense)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	GPathogenic
Select item 812884	NM_000760.4(CSF3R):c.1576+1G>A	CSF3R	Single nucleotide variant (splice donor variant)	Severe congenital neutropenia	GLikely pathogenic
Select item 810840	NM_003139.4(SRPRA):c.1390C>G (p.Gln464Glu)	SRPRA (Q436E +1 more)	Single nucleotide variant (missense variant)	Shwachman-Diamond syndrome 1 +1 more	GPathogenic
Select item 810839	NM_003135.3(SRP19):c.189+5G>A	SRP19	Single nucleotide variant (intron variant)	Shwachman-Diamond syndrome 1 +1 more	GPathogenic
Select item 805888	NM_015122.3(FCHO1):c.1948C>T (p.Arg650Ter)	FCHO1 (R600* +1 more)	Single nucleotide variant (nonsense)	Immunodeficiency with T and B cell lymphopenia	GPathogenic
Select item 805887	NM_015122.3(FCHO1):c.195-2A>C	FCHO1	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 76 +1 more	GPathogenic
Select item 805886	NM_015122.3(FCHO1):c.489+1G>A	FCHO1	Single nucleotide variant (splice donor variant)	Severe congenital neutropenia	GPathogenic
Select item 805885	NM_015122.3(FCHO1):c.2023dup (p.Val675fs)	FCHO1 (V625fs +1 more)	Duplication (frameshift variant)	Immunodeficiency 76 +1 more	GPathogenic
Select item 805884	NM_015122.3(FCHO1):c.100G>C (p.Ala34Pro)	FCHO1 (A34P)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 76 +1 more	GPathogenic
Select item 805883	NM_015122.3(FCHO1):c.2036G>C (p.Arg679Pro)	FCHO1 (R629P +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 76 +1 more	GPathogenic
Select item 427985	NM_156039.3(CSF3R):c.[1245delG];[948_963del16]			Severe congenital neutropenia	GPathogenic
Select item 419887	NM_006118.4(HAX1):c.91del (p.Glu31fs)	HAX1 (E31fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 323471	NM_138387.4(G6PC3):c.*1CTT[1]	G6PC3	Microsatellite (3 prime UTR variant)	Severe congenital neutropenia	GUncertain significance
Select item 323455	NM_138387.4(G6PC3):c.-191T>G	G6PC3	Single nucleotide variant (5 prime UTR variant +1 more)	Severe congenital neutropenia	GUncertain significance
Select item 298187	NM_005263.5(GFI1):c.925-7_925-6insTCTCTT	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 298186	NM_005263.5(GFI1):c.925-40CT[13]	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 298185	NM_005263.5(GFI1):c.925-40CT[15]	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant +3 more	GBenign/Likely benign
Select item 298184	NM_005263.5(GFI1):c.925-40CT[16]	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 298183	NM_005263.5(GFI1):c.925-40CT[23]	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 298182	NM_005263.5(GFI1):c.925-40CT[17]	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 298181	NM_005263.5(GFI1):c.925-40CT[25]	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 298180	NM_005263.5(GFI1):c.925-40CT[22]	GFI1	Microsatellite (intron variant)	Neutropenia, severe congenital, 2, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 298179	NM_005263.5(GFI1):c.925-40CT[20]	GFI1	Microsatellite (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 292701	NM_006118.4(HAX1):c.-53del	HAX1, LOC129931498	Deletion (5 prime UTR variant)	Severe congenital neutropenia	GLikely benign
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: 35