ClinVar for MedGen (Select 341102) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235028	NM_000265.7(NCF1):c.682+5C>T	LOC106029312, NCF1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	GUncertain significance
Select item 2434075	NM_000265.7(NCF1):c.575-6G>A	LOC106029312, NCF1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	GUncertain significance
Select item 1297511	NM_000265.7(NCF1):c.269G>A (p.Arg90His)	LOC106029312, NCF1 (R90H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1175021	NM_000265.7(NCF1):c.292T>G (p.Cys98Gly)	LOC106029312, NCF1 (C98G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 973652	NM_000265.7(NCF1):c.923C>T (p.Ala308Val)	LOC106029312, NCF1 (A308V)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	GLikely benign
Select item 636728	NM_000265.7(NCF1):c.285_288dup (p.Tyr97fs)	LOC106029312, NCF1 (Y97fs)	Duplication (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 636577	NM_000265.7(NCF1):c.124C>T (p.Arg42Trp)	LOC106029312, NCF1 (R42W)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 625985	NM_000265.7(NCF1):c.108G>A (p.Ser36=)	LOC106029312, NCF1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	GUncertain significance
Select item 426990	NM_000265.7(NCF1):c.579G>A (p.Trp193Ter)	LOC106029312, NCF1 (W193*)	Single nucleotide variant (nonsense)	Chronic granulomatous disease +2 more	GPathogenic/Likely pathogenic
Select item 2255	NM_000265.7(NCF1):c.574G>A (p.Gly192Ser)	LOC106029312, NCF1 (G192S)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	GPathogenic
Select item 2254	NM_000265.7(NCF1):c.333T>A (p.Cys111Ter)	LOC106029312, NCF1 (C111*)	Single nucleotide variant (nonsense)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	GPathogenic
Select item 2253	NM_000265.7(NCF1):c.271C>T (p.Gln91Ter)	LOC106029312, NCF1 (Q91*)	Single nucleotide variant (nonsense)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	GPathogenic
Select item 2252	NM_000265.7(NCF1):c.811del (p.Val271fs)	LOC106029312, NCF1 (V271fs)	Deletion (frameshift variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	GPathogenic
Select item 2251	NM_000265.7(NCF1):c.125G>A (p.Arg42Gln)	LOC106029312, NCF1 (R42Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2250	NM_000265.7(NCF1):c.502del (p.Glu168fs)	LOC106029312, NCF1 (E168fs)	Deletion (frameshift variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	GPathogenic
Select item 2249	NM_000265.7(NCF1):c.75_76del (p.Tyr26fs)	LOC106029312, NCF1 (Y26fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic