"CDK4-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 823029	NM_000075.4(CDK4):c.911G>T (p.Ter304Leu)	CDK4, TSPAN31	Single nucleotide variant (stop lost +1 more)	Familial melanoma +2 more	GUncertain significance
Select item 3061174	NM_000075.4(CDK4):c.888T>C (p.His296=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	CDK4-related disorder	GLikely benign
Select item 219965	NM_000075.4(CDK4):c.834T>C (p.Phe278=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
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 421369	NM_005981.5(TSPAN31):c.*2037dup	TSPAN31, CDK4	Duplication (3 prime UTR variant +1 more)	not specified +3 more	GLikely benign
Select item 463476	NM_005981.5(TSPAN31):c.*2222G>A	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Familial melanoma +2 more	GConflicting classifications of pathogenicity
Select item 485495	NM_000075.4(CDK4):c.580C>T (p.Pro194Ser)	CDK4 (P194S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 825795	NM_000075.4(CDK4):c.550G>A (p.Glu184Lys)	CDK4 (E184K)	Single nucleotide variant (missense variant)	Familial melanoma +2 more	GUncertain significance
Select item 463469	NM_000075.4(CDK4):c.501C>T (p.Tyr167=)	CDK4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 216270	NM_000075.4(CDK4):c.460G>C (p.Val154Leu)	CDK4 (V154L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 216268	NM_000075.4(CDK4):c.409G>A (p.Val137Ile)	CDK4 (V137I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 408339	NM_000075.4(CDK4):c.347C>T (p.Thr116Met)	CDK4 (T116M)	Single nucleotide variant (missense variant)	Familial melanoma +2 more	GUncertain significance
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 483288	NM_000075.4(CDK4):c.222G>A (p.Leu74=)	CDK4	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 439046	NM_000075.4(CDK4):c.155G>A (p.Ser52Asn)	CDK4, LOC130008148 (S52N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 135822	NM_000075.4(CDK4):c.122A>G (p.Asn41Ser)	CDK4, LOC130008148 (N41S)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 3 +5 more	GConflicting classifications of pathogenicity