"Baylor Genetics"[submitter] AND "NEXMIF"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030948	NM_001008537.3(NEXMIF):c.4397A>C (p.His1466Pro)	NEXMIF (H1466P)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 1030947	NM_001008537.3(NEXMIF):c.4271C>T (p.Ser1424Phe)	NEXMIF (S1424F)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 374403	NM_001008537.3(NEXMIF):c.4248dup (p.Gly1417fs)	NEXMIF (G1417fs)	Duplication (frameshift variant)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 953067	NM_001008537.3(NEXMIF):c.4055A>G (p.Asn1352Ser)	NEXMIF (N1352S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1033189	NM_001008537.3(NEXMIF):c.3728G>A (p.Arg1243His)	NEXMIF (R1243H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1030946	NM_001008537.3(NEXMIF):c.3437C>A (p.Ser1146Tyr)	NEXMIF (S1146Y)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GLikely pathogenic
Select item 520765	NM_001008537.3(NEXMIF):c.3202C>T (p.Leu1068Phe)	NEXMIF (L1068F)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type +1 more	GUncertain significance
Select item 561042	NM_001008537.3(NEXMIF):c.2888_2889del (p.Ser963fs)	NEXMIF (S963fs)	Microsatellite (frameshift variant)	X-linked intellectual disability, Cantagrel type +1 more	GPathogenic
Select item 1033188	NM_001008537.3(NEXMIF):c.2786C>T (p.Thr929Ile)	NEXMIF (T929I)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type +2 more	GConflicting classifications of pathogenicity
Select item 2441793	NM_001008537.3(NEXMIF):c.1690A>G (p.Ser564Gly)	NEXMIF (S564G)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 646370	NM_001008537.3(NEXMIF):c.1417T>C (p.Ser473Pro)	NEXMIF (S473P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 374404	NM_001008537.3(NEXMIF):c.1376_1377del (p.Asp458_Cys459insTer)	NEXMIF	Deletion (nonsense)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 1033187	NM_001008537.3(NEXMIF):c.1159G>T (p.Glu387Ter)	NEXMIF (E387*)	Single nucleotide variant (nonsense)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 1033191	NM_001008537.3(NEXMIF):c.862G>T (p.Glu288Ter)	NEXMIF (E288*)	Single nucleotide variant (nonsense)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 1030949	NM_001008537.3(NEXMIF):c.466G>A (p.Ala156Thr)	NEXMIF (A156T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance