Related gene-specific medical variations for Gene (Select 4781) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065166	NM_001190737.2(NFIB):c.1465C>T (p.Gln489Ter)	NFIB (Q237* +6 more)	Single nucleotide variant (nonsense +1 more)	Macrocephaly, acquired, with impaired intellectual development	GLikely pathogenic
Select item 2685341	GRCh37/hg19 9p22.3(chr9:14322255-14470759)x1	NFIB	Copy number loss	not provided	GUncertain significance
Select item 2659079	NM_001190738.2(NFIB):c.109-14444T>C	NFIB, NFIB-AS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 2575955	NM_001190737.2(NFIB):c.495G>T (p.Gln165His)	NFIB (Q117H +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2573027	NM_001190737.2(NFIB):c.230T>G (p.Leu77Arg)	NFIB (L103R +6 more)	Single nucleotide variant (missense variant)	Macrocephaly, acquired, with impaired intellectual development	GUncertain significance
Select item 2434348	NM_001190737.2(NFIB):c.550G>A (p.Val184Met)	NFIB (V136M +6 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly, acquired, with impaired intellectual development	GUncertain significance
Select item 2434347	NM_001190737.2(NFIB):c.30+9C>G	NFIB	Single nucleotide variant (intron variant)	Macrocephaly, acquired, with impaired intellectual development	GUncertain significance
Select item 2434346	NM_001190737.2(NFIB):c.955C>G (p.Pro319Ala)	NFIB (P140A +11 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly, acquired, with impaired intellectual development	GUncertain significance
Select item 2429887	NM_001190737.2(NFIB):c.254G>T (p.Arg85Leu)	NFIB (R107L +6 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2429803	NM_001190737.2(NFIB):c.769G>C (p.Val257Leu)	NFIB (V178L +11 more)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GLikely benign
Select item 1801407	NM_001369458.1(NFIB):c.96+33125_96+33183del	NFIB	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1700157	NM_001190737.2(NFIB):c.364del (p.Arg122fs)	NFIB (R113fs +6 more)	Deletion (frameshift variant +1 more)	Neurodevelopmental delay	GUncertain significance
Select item 1679729	NM_001190738.2(NFIB):c.109-33576G>A	NFIB, NFIB-AS1	Single nucleotide variant (intron variant)	Macrocephaly, acquired, with impaired intellectual development	GUncertain significance
Select item 1341733	NM_001190737.2(NFIB):c.1217A>G (p.Tyr406Cys)	NFIB (Y154C +13 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly, acquired, with impaired intellectual development	GUncertain significance
Select item 1341289	GRCh37/hg19 9p22.3(chr9:14303821-14446948)x1	NFIB	Copy number loss	not provided	GPathogenic
Select item 1325544	NM_001190737.2(NFIB):c.*98G>C	NFIB (E305Q +11 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Macrocephaly, acquired, with impaired intellectual development	GUncertain significance
Select item 1324803	NM_001190737.2(NFIB):c.152del (p.Lys51fs)	NFIB (K3fs +6 more)	Deletion (frameshift variant)	Macrocephaly, acquired, with impaired intellectual development	GLikely pathogenic
Select item 1209855	GRCh37/hg19 9p23(chr9:13862493-14155897)x1	NFIB	Copy number loss	9p23 dn microdeletion	GPathogenic
Select item 1184959	NM_001190737.2(NFIB):c.367C>T (p.Gln123Ter)	NFIB (Q114* +6 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 980896	GRCh37/hg19 9p23(chr9:14067538-14159969)x1	NFIB	Copy number loss	not provided	GPathogenic
Select item 930874	NM_001190737.2(NFIB):c.1147T>C (p.Ser383Pro)	NFIB (S304P +13 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly, acquired, with impaired intellectual development	GUncertain significance
Select item 929378	GRCh37/hg19 9p23(chr9:13759474-14144821)x1	NFIB	Copy number loss	See cases	GLikely pathogenic
Select item 495140	t(6;9)(q23.3;p22.3)	MYB, NFIB	Translocation	Adenoid cystic carcinoma	GPathogenic
Select item 495139	t(6;9)(q23.3;p22.3)	MYB, NFIB	Translocation	Adenoid cystic carcinoma	GPathogenic
Select item 495138	t(6;9)(q23.3;p22.3)	NFIB, MYB	Translocation	Adenoid cystic carcinoma	GPathogenic
Select item 495137	t(6;9)(q23.3;p22.3)	MYB, NFIB	Translocation	Adenoid cystic carcinoma	GPathogenic
Select item 495136	t(8;9)(q13.1;p22.3)	MYBL1, NFIB	Translocation	Adenoid cystic carcinoma	GPathogenic

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Items: 27