Related gene-specific medical variations for Gene (Select 1027) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2681852	NM_004064.5(CDKN1B):c.21T>A (p.Ser7=)	CDKN1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2681851	NM_004064.5(CDKN1B):c.202A>T (p.Lys68Ter)	CDKN1B (K68*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2680539	NM_004064.5(CDKN1B):c.476-18A>G	CDKN1B	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia type 4	GLikely pathogenic
Select item 2680537	NM_004064.5(CDKN1B):c.175A>C (p.Lys59Gln)	CDKN1B (K59Q)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2680536	NM_004064.5(CDKN1B):c.526G>A (p.Asp176Asn)	CDKN1B (D176N)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2680535	NM_004064.5(CDKN1B):c.364_365delinsTT (p.Pro122Leu)	CDKN1B (P122L)	Indel (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 307653	NM_004064.5(CDKN1B):c.-271del	CDKN1B, LOC130007458	Deletion (5 prime UTR variant)	Multiple endocrine neoplasia	GUncertain significance
Select item 307652	NM_004064.5(CDKN1B):c.-336A>G	CDKN1B, LOC130007458	Single nucleotide variant (5 prime UTR variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 307651	NM_004064.5(CDKN1B):c.-366C>T	CDKN1B, LOC130007458	Single nucleotide variant (5 prime UTR variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 307647	NM_004064.5(CDKN1B):c.-471T>G	CDKN1B, LOC130007457	Single nucleotide variant (5 prime UTR variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 183394	NM_004064.5(CDKN1B):c.-454_-451del	CDKN1B, LOC130007457	Deletion (5 prime UTR variant)	Multiple endocrine neoplasia type 4	GPathogenic