"Sema4, Sema4"[submitter] AND "CDK4"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 127520	NM_000075.4(CDK4):c.776C>T (p.Ser259Leu)	CDK4, TSPAN31 (S259L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 184333	NM_000075.4(CDK4):c.764G>A (p.Arg255His)	CDK4, TSPAN31 (R255H)	Single nucleotide variant (missense variant +1 more)	CDK4-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 231956	NM_000075.4(CDK4):c.651C>T (p.Asn217=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 135825	NM_000075.4(CDK4):c.625C>T (p.Arg209Cys)	CDK4 (R209C)	Single nucleotide variant (missense variant)	Familial melanoma +4 more	GConflicting classifications of pathogenicity
Select item 135824	NM_000075.4(CDK4):c.523-4T>A	CDK4	Single nucleotide variant (intron variant)	Familial melanoma +2 more	GBenign/Likely benign
Select item 215439	NM_000075.4(CDK4):c.522+8G>A	CDK4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 1692135	NM_000075.4(CDK4):c.519C>G (p.Pro173=)	CDK4	Single nucleotide variant (synonymous variant)	Familial melanoma +1 more	GConflicting classifications of pathogenicity
Select item 483284	NM_000075.4(CDK4):c.481C>T (p.Leu161=)	CDK4	Single nucleotide variant (synonymous variant)	Familial melanoma +3 more	GLikely benign
Select item 824901	NM_000075.4(CDK4):c.444G>T (p.Val148=)	CDK4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 386089	NM_000075.4(CDK4):c.306A>C (p.Thr102=)	CDK4	Single nucleotide variant (synonymous variant)	Familial melanoma +3 more	GLikely benign
Select item 184409	NM_000075.4(CDK4):c.306A>G (p.Thr102=)	CDK4	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 236943	NM_000075.4(CDK4):c.228C>T (p.Asp76=)	CDK4	Single nucleotide variant (synonymous variant)	CDK4-related disorder +3 more	GLikely benign
Select item 215629	NM_000075.4(CDK4):c.141A>C (p.Gly47=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Familial melanoma +2 more	GLikely benign
Select item 1692134	NM_000075.4(CDK4):c.-19-9_-19-8del	CDK4	Microsatellite (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 309985	NM_000075.4(CDK4):c.-123T>G	CDK4	Single nucleotide variant (5 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3 +2 more	GConflicting classifications of pathogenicity