"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CDKN1B"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 307657	NM_004064.5(CDKN1B):c.-126C>T	CDKN1B	Single nucleotide variant (5 prime UTR variant)	Multiple endocrine neoplasia type 4	GBenign
Select item 469005	NM_004064.5(CDKN1B):c.20C>G (p.Ser7Cys)	CDKN1B (S7C)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4 +1 more	GUncertain significance
Select item 573612	NM_004064.5(CDKN1B):c.272C>T (p.Pro91Leu)	CDKN1B (P91L)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4 +1 more	GUncertain significance
Select item 469012	NM_004064.5(CDKN1B):c.272C>G (p.Pro91Arg)	CDKN1B (P91R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 469013	NM_004064.5(CDKN1B):c.278G>A (p.Arg93Gln)	CDKN1B (R93Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 469014	NM_004064.5(CDKN1B):c.280C>T (p.Pro94Ser)	CDKN1B (P94S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 239622	NM_004064.5(CDKN1B):c.426G>A (p.Thr142=)	CDKN1B	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 697888	NM_004064.5(CDKN1B):c.476-10C>T	CDKN1B	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia type 4	GLikely benign
Select item 404281	NM_004064.5(CDKN1B):c.536C>T (p.Pro179Leu)	CDKN1B (P179L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 412889	NM_004064.5(CDKN1B):c.577C>T (p.Leu193Phe)	CDKN1B (L193F)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign