NFYB[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	LOC130008616, LOC130008617 +712 more	Copy number gain	See cases	GPathogenic
Select item 149859	GRCh38/hg38 12q23.3(chr12:103500125-104726872)x1	C12orf42, CHST11 +115 more	Copy number loss	See cases	GUncertain significance
Select item 2594193	NM_006166.4(NFYB):c.580T>C (p.Ser194Pro)	NFYB (I191T +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2643252	NM_006166.4(NFYB):c.378C>G (p.Gly126=)	NFYB	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2359793	NM_006166.4(NFYB):c.268G>A (p.Val90Ile)	NFYB (V20I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 996962	NC_000012.12:g.104124548_104227635dup	LINC02385, LOC111413045 +14 more	Duplication	See cases	GUncertain significance
Select item 2405597	NM_006166.4(NFYB):c.85A>T (p.Ile29Leu)	NFYB (I29L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279878	NM_006166.4(NFYB):c.64A>G (p.Ile22Val)	NFYB (I23V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808032	GRCh37/hg19 12q23.2-23.3(chr12:103588380-105161579)x3	C12orf42, CHST11 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1527730	GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	ABTB3, ACACB +74 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527728	GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)	ACTR6, ALDH1L2 +39 more	Copy number gain	not specified	GUncertain significance
Select item 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 685970	GRCh37/hg19 12q23.2-23.3(chr12:102414522-105845768)x1	TXNRD1, UQCC6 +23 more	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic