"GeneDx"[submitter] AND "NFIB"[gene] - ClinVar

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

Search results

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59101	GRCh38/hg38 9p23-22.2(chr9:11818291-17963882)x1	ADAMTSL1, BNC2 +61 more	Copy number loss	See cases	GPathogenic
Select item 2500495	NM_001190737.2(NFIB):c.1183C>G (p.Pro395Ala)	NFIB (P143A +13 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1305543	NM_001190737.2(NFIB):c.1121T>C (p.Leu374Pro)	NFIB (L122P +13 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2501110	NM_001190737.2(NFIB):c.1118T>G (p.Ile373Ser)	NFIB (I121S +13 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2575555	NM_001190737.2(NFIB):c.1057_1059del (p.Ser353del)	NFIB (S101del +9 more)	Deletion (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 1308112	NM_001190737.2(NFIB):c.1031A>G (p.His344Arg)	NFIB (H165R +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1800541	NM_001190737.2(NFIB):c.870C>A (p.Tyr290Ter)	NFIB (Y111* +11 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3343832	NM_001190737.2(NFIB):c.862G>T (p.Asp288Tyr)	NFIB (D109Y +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3370244	NM_001190737.2(NFIB):c.804C>A (p.Ser268Arg)	NFIB (S16R +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364407	NM_001190737.2(NFIB):c.743C>T (p.Pro248Leu)	NFIB (P169L +10 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2573749	NM_001190737.2(NFIB):c.562+1G>A	NFIB	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 2575825	NM_001190737.2(NFIB):c.557A>G (p.Glu186Gly)	NFIB (E138G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 560026	NM_001190737.2(NFIB):c.376A>G (p.Lys126Glu)	NFIB (K126E +6 more)	Single nucleotide variant (missense variant +1 more)	Marfanoid habitus and intellectual disability +4 more	GPathogenic/Likely pathogenic
Select item 2576943	NM_001190737.2(NFIB):c.364C>T (p.Arg122Ter)	NFIB (R113* +6 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3342513	NM_001190737.2(NFIB):c.330C>A (p.Asp110Glu)	NFIB (D101E +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 424344	NM_001190737.2(NFIB):c.265C>T (p.Arg89Ter)	NFIB (R89* +6 more)	Single nucleotide variant (nonsense)	Macrocephaly +3 more	GPathogenic/Likely pathogenic
Select item 1311855	NM_001190737.2(NFIB):c.236A>G (p.Lys79Arg)	NFIB (K101R +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497948	NM_001190737.2(NFIB):c.201A>T (p.Glu67Asp)	NFIB (E19D +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 810358	NM_001190737.2(NFIB):c.115C>T (p.Arg39Cys)	NFIB (R35C +5 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly, acquired, with impaired intellectual development +1 more	GPathogenic/Likely pathogenic
Select item 560024	NM_001190737.2(NFIB):c.109C>T (p.Arg37Ter)	NFIB (R37* +5 more)	Single nucleotide variant (nonsense +1 more)	Macrocephaly, acquired, with impaired intellectual development +3 more	GPathogenic
Select item 3373028	NM_001190737.2(NFIB):c.40C>T (p.His14Tyr)	NFIB (H10Y +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368725	NM_001190737.2(NFIB):c.32A>G (p.Asp11Gly)	NFIB (D11G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2413110	NM_001190737.2(NFIB):c.2T>C (p.Met1Thr)	NFIB (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3371786	NM_001190737.2(NFIB):c.-2T>G	NFIB	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 253670	GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3	ACER2, ADAMTSL1 +59 more	Copy number gain	See cases	GPathogenic
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACER2, ACO1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 3361878	NM_001190737.2(NFIB):c.293G>T (p.Gly98Val)	NFIB (G120V +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360933	NM_001190737.2(NFIB):c.650T>G (p.Val217Gly)	NFIB (V138G +10 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3360784	NM_001190737.2(NFIB):c.1000C>T (p.Pro334Ser)	NFIB (P155S +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360525	NM_001190737.2(NFIB):c.577G>T (p.Gly193Ter)	NFIB (G114* +9 more)	Single nucleotide variant (nonsense +3 more)	not provided	GLikely pathogenic

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: 34