"PreventionGenetics, part of Exact Sciences"[submitter] AND "NFIA"[gen - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3030877	NM_001145512.2(NFIA):c.40G>A (p.Val14Met)	LOC122056894, NFIA (V14M)	Single nucleotide variant (missense variant +1 more)	NFIA-related disorder	GLikely benign
Select item 2066234	NM_001134673.4(NFIA):c.465A>G (p.Gln155=)	NFIA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2185614	NM_001134673.4(NFIA):c.570A>G (p.Gln190=)	NFIA	Single nucleotide variant (synonymous variant)	NFIA-related disorder +1 more	GBenign/Likely benign
Select item 3041453	NM_001134673.4(NFIA):c.834C>G (p.Leu278=)	NFIA	Single nucleotide variant (synonymous variant)	NFIA-related disorder	GLikely benign
Select item 1987451	NM_001134673.4(NFIA):c.978G>A (p.Ser326=)	NFIA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1184868	NM_001134673.4(NFIA):c.1051C>T (p.Arg351Ter)	NFIA (R343* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1914396	NM_001134673.4(NFIA):c.1227G>A (p.Gln409=)	NFIA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1219266	NM_001134673.4(NFIA):c.1255-7_1255-5del	NFIA	Deletion (intron variant)	NFIA-related disorder +1 more	GBenign/Likely benign
Select item 3034469	NM_001134673.4(NFIA):c.1255-9C>T	NFIA	Single nucleotide variant (intron variant)	NFIA-related disorder	GLikely benign
Select item 3026432	NM_001134673.4(NFIA):c.1255-8_1255-7insGC	NFIA	Insertion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 435979	NM_001134673.4(NFIA):c.1255-9_1255-8insA	NFIA	Insertion (intron variant)	NFIA-related disorder +1 more	GLikely benign
Select item 3045812	NM_001134673.4(NFIA):c.1255-8_1255-7insG	NFIA	Insertion (intron variant)	NFIA-related disorder	GLikely benign
Select item 3043270	NM_001134673.4(NFIA):c.1255-8_1255-7insT	NFIA	Insertion (intron variant)	NFIA-related disorder	GLikely benign
Select item 2638854	NM_001134673.4(NFIA):c.1255-8C>T	NFIA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 730208	NM_001134673.4(NFIA):c.1255-8C>G	NFIA	Single nucleotide variant (intron variant)	NFIA-related disorder +1 more	GBenign/Likely benign
Select item 1501217	NM_001134673.4(NFIA):c.1255-6_1255-5insGC	NFIA	Insertion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1188003	NM_001134673.4(NFIA):c.1255-7C>T	NFIA	Single nucleotide variant (intron variant)	NFIA-related disorder +1 more	GLikely benign
Select item 770850	NM_001134673.4(NFIA):c.1255-6C>T	NFIA	Single nucleotide variant (intron variant)	NFIA-related disorder +1 more	GBenign
Select item 1278583	NM_001134673.4(NFIA):c.1332G>A (p.Pro444=)	NFIA	Single nucleotide variant (synonymous variant)	NFIA-related disorder +1 more	GBenign/Likely benign
Select item 435978	NM_001134673.4(NFIA):c.*42C>T	NFIA (P494S)	Single nucleotide variant (3 prime UTR variant +1 more)	NFIA-related disorder +2 more	GBenign/Likely benign

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Items: 20