"NFIX-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3029907	NM_001365902.3(NFIX):c.72C>T (p.Arg24=)	NFIX	Single nucleotide variant (synonymous variant +1 more)	NFIX-related disorder	GLikely benign
Select item 707679	NM_001365902.3(NFIX):c.117G>A (p.Lys39=)	NFIX	Single nucleotide variant (synonymous variant +1 more)	NFIX-related disorder +2 more	GLikely benign
Select item 2630512	NM_001365902.3(NFIX):c.146C>T (p.Ser49Leu)	NFIX (S2L +5 more)	Single nucleotide variant (missense variant)	NFIX-related disorder	GUncertain significance
Select item 389919	NM_001365902.3(NFIX):c.183G>A (p.Leu61=)	NFIX	Single nucleotide variant (synonymous variant)	Malan overgrowth syndrome +3 more	GLikely benign
Select item 559943	NM_001365902.3(NFIX):c.346C>T (p.Arg116Trp)	NFIX (R116W +5 more)	Single nucleotide variant (missense variant)	NFIX-related disorder +2 more	GPathogenic
Select item 1093742	NM_001365902.3(NFIX):c.843C>T (p.Ile281=)	NFIX	Single nucleotide variant (synonymous variant)	Malan overgrowth syndrome +2 more	GLikely benign
Select item 2222264	NM_001365902.3(NFIX):c.956-4C>G	NFIX	Single nucleotide variant (intron variant)	Marshall-Smith syndrome +3 more	GLikely benign
Select item 280440	NM_001365902.3(NFIX):c.1087dup (p.Arg363fs)	NFIX (R355fs +6 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 767492	NM_001365902.3(NFIX):c.1236G>A (p.Ser412=)	NFIX	Single nucleotide variant (synonymous variant)	NFIX-related disorder +2 more	GBenign
Select item 3055918	NM_001365902.3(NFIX):c.1292T>A (p.Phe431Tyr)	NFIX (F423Y +4 more)	Single nucleotide variant (missense variant +1 more)	NFIX-related disorder	GUncertain significance
Select item 3057751	NM_001365902.3(NFIX):c.1457G>A (p.Arg486Gln)	NFIX (G390R +9 more)	Single nucleotide variant (missense variant)	NFIX-related disorder	GUncertain significance