"Revvity Omics, Revvity"[submitter] AND "NEXMIF"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434335	NM_001008537.3(NEXMIF):c.4004T>C (p.Met1335Thr)	NEXMIF (M1335T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 88753	NM_001008537.3(NEXMIF):c.3597dup (p.Ser1200fs)	NEXMIF (S1200fs)	Duplication (frameshift variant)	X-linked intellectual disability, Cantagrel type +1 more	GPathogenic
Select item 1323146	NM_001008537.3(NEXMIF):c.2714C>G (p.Ser905Ter)	NEXMIF (S905*)	Single nucleotide variant (nonsense)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 759304	NM_001008537.3(NEXMIF):c.2411C>G (p.Thr804Ser)	NEXMIF (T804S)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type +1 more	GConflicting classifications of pathogenicity
Select item 2689304	NM_001008537.3(NEXMIF):c.2360T>C (p.Phe787Ser)	NEXMIF (F787S)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 521125	NM_001008537.3(NEXMIF):c.2332_2333delinsTG (p.Glu778Trp)	NEXMIF (E778W)	Indel (missense variant)	X-linked intellectual disability, Cantagrel type +2 more	GUncertain significance
Select item 2433114	NM_001008537.3(NEXMIF):c.1995T>G (p.His665Gln)	NEXMIF (H665Q)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 2434336	NM_001008537.3(NEXMIF):c.1598G>C (p.Arg533Pro)	NEXMIF (R533P)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 2689303	NM_001008537.3(NEXMIF):c.1540G>C (p.Gly514Arg)	NEXMIF (G514R)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 280509	NM_001008537.3(NEXMIF):c.1441C>T (p.Arg481Ter)	NEXMIF (R481*)	Single nucleotide variant (nonsense)	not specified +2 more	GPathogenic
Select item 2434337	NM_001008537.3(NEXMIF):c.1142A>T (p.Asp381Val)	NEXMIF (D381V)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 2434334	NM_001008537.3(NEXMIF):c.926C>T (p.Ser309Phe)	NEXMIF (S309F)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 589350	NM_001008537.3(NEXMIF):c.443G>A (p.Gly148Asp)	NEXMIF (G148D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance