"Ambry Genetics"[submitter] AND "NFIB"[gene] - ClinVar

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

Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2464913	NM_001190737.2(NFIB):c.1448C>A (p.Ser483Tyr)	NFIB (S413Y +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3197527	NM_001190737.2(NFIB):c.1390A>G (p.Thr464Ala)	NFIB (T469A +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406709	NM_001190737.2(NFIB):c.1345A>C (p.Ser449Arg)	NFIB (S445R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3054725	NM_001190737.2(NFIB):c.1292C>G (p.Thr431Ser)	NFIB (T179S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3197517	NM_001190737.2(NFIB):c.1279C>T (p.Pro427Ser)	NFIB (P175S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286837	NM_001190737.2(NFIB):c.1205A>G (p.Tyr402Cys)	NFIB (Y323C +13 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3197510	NM_001190737.2(NFIB):c.1087C>T (p.Pro363Ser)	NFIB (P288S +13 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3197505	NM_001190737.2(NFIB):c.1061-1G>C	NFIB	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2369067	NM_001190737.2(NFIB):c.1026C>G (p.His342Gln)	NFIB (H338Q +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2366599	NM_001190737.2(NFIB):c.955C>A (p.Pro319Thr)	NFIB (P140T +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1331172	NM_001190737.2(NFIB):c.913G>C (p.Glu305Gln)	NFIB (E126Q +11 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3197573	NM_001190737.2(NFIB):c.877C>G (p.Pro293Ala)	NFIB (P275A +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3197567	NM_001190737.2(NFIB):c.829A>G (p.Ile277Val)	NFIB (I272V +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230911	NM_001190737.2(NFIB):c.806+3A>C	NFIB	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3197559	NM_001190737.2(NFIB):c.787C>G (p.Leu263Val)	NFIB (L259V +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394083	NM_001190737.2(NFIB):c.722T>C (p.Ile241Thr)	NFIB (I193T +10 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3197552	NM_001190737.2(NFIB):c.721A>G (p.Ile241Val)	NFIB (I162V +10 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2511483	NM_001190737.2(NFIB):c.656A>G (p.Asn219Ser)	NFIB (N171S +10 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3197541	NM_001190737.2(NFIB):c.554A>G (p.Gln185Arg)	NFIB (Q207R +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 985075	NM_001190737.2(NFIB):c.419G>T (p.Gly140Val)	NFIB (G131V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1324804	NM_001190737.2(NFIB):c.373_376del (p.Asp125fs)	NFIB (D116fs +6 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 3197534	NM_001190737.2(NFIB):c.286G>A (p.Val96Met)	NFIB (V122M +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299524	NM_001190737.2(NFIB):c.185T>A (p.Leu62His)	NFIB (L14H +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230844	NM_001190738.2(NFIB):c.1A>T (p.Met1Leu)	NFIB (M1L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 24