NFYC[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 58072	GRCh38/hg38 1p34.3-34.2(chr1:39360747-40900817)x3	BMP8A, BMP8B +129 more	Copy number gain	See cases	GPathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic
Select item 3299596	NM_014223.5(NFYC):c.606G>C (p.Gln202His)	NFYC (Q202H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299597	NM_014223.5(NFYC):c.625C>G (p.Gln209Glu)	NFYC (Q171E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250946	NM_014223.5(NFYC):c.643G>T (p.Ala215Ser)	NFYC (A177S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279767	NM_014223.5(NFYC):c.766C>G (p.Pro256Ala)	NFYC (P218A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455721	NM_014223.5(NFYC):c.828+237G>A	NFYC (G284E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249502	NM_014223.5(NFYC):c.916A>G (p.Met306Val)	NFYC (M272V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483574	NM_014223.5(NFYC):c.978C>A (p.Asp326Glu)	NFYC (D325E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024571	GRCh37/hg19 1p34.2(chr1:40688246-42630383)x1	CITED4, GUCA2A +20 more	Copy number loss	not provided	GUncertain significance
Select item 1526937	GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292)	AKIRIN1, BMP8A +40 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442493	GRCh37/hg19 1p34.2(chr1:40962859-41375802)x1	CITED4, EXO5 +5 more	Copy number loss	See cases	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394139	GRCh37/hg19 1p34.2(chr1:41086977-41670357)x3	CITED4, CTPS1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 254027	GRCh37/hg19 1p34.2(chr1:40944820-42213560)x1	ZFP69, EDN2 +12 more	Copy number loss	See cases	GUncertain significance

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Items: 23