"Ambry Genetics"[submitter] AND "LOC130008148"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1787257	NM_000075.4(CDK4):c.218+1G>A	CDK4, LOC130008148	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 835855	NM_000075.4(CDK4):c.218G>A (p.Arg73Gln)	LOC130008148, CDK4 (R73Q)	Single nucleotide variant (missense variant)	Familial melanoma +1 more	GUncertain significance
Select item 1787238	NM_000075.4(CDK4):c.217C>G (p.Arg73Gly)	CDK4, LOC130008148 (R73G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 649745	NM_000075.4(CDK4):c.217C>T (p.Arg73Trp)	CDK4, LOC130008148 (R73W)	Single nucleotide variant (missense variant)	Familial melanoma +2 more	GUncertain significance
Select item 1786570	NM_000075.4(CDK4):c.213T>C (p.Val71=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 792208	NM_000075.4(CDK4):c.210T>C (p.Asn70=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Familial melanoma +1 more	GLikely benign
Select item 649162	NM_000075.4(CDK4):c.209A>G (p.Asn70Ser)	CDK4, LOC130008148 (N70S)	Single nucleotide variant (missense variant)	Familial melanoma +1 more	GUncertain significance
Select item 820468	NM_000075.4(CDK4):c.198del (p.Phe66fs)	CDK4, LOC130008148 (F66fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 793110	NM_000075.4(CDK4):c.195T>C (p.Ala65=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Familial melanoma +1 more	GLikely benign
Select item 1783195	NM_000075.4(CDK4):c.194C>T (p.Ala65Val)	CDK4, LOC130008148 (A65V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 820373	NM_000075.4(CDK4):c.193G>A (p.Ala65Thr)	CDK4, LOC130008148 (A65T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 135823	NM_000075.4(CDK4):c.192G>A (p.Glu64=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Familial melanoma +1 more	GLikely benign
Select item 1124902	NM_000075.4(CDK4):c.189G>A (p.Leu63=)	LOC130008148, CDK4	Single nucleotide variant (synonymous variant)	Familial melanoma +1 more	GLikely benign
Select item 657087	NM_000075.4(CDK4):c.185G>A (p.Arg62Gln)	LOC130008148, CDK4 (R62Q)	Single nucleotide variant (missense variant)	Familial melanoma +1 more	GUncertain significance
Select item 820176	NM_000075.4(CDK4):c.184C>T (p.Arg62Ter)	CDK4, LOC130008148 (R62*)	Single nucleotide variant (nonsense)	Familial melanoma +1 more	GUncertain significance
Select item 483292	NM_000075.4(CDK4):c.183G>A (p.Arg61=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Familial melanoma +1 more	GLikely benign
Select item 485494	NM_000075.4(CDK4):c.180G>A (p.Leu60=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 483310	NM_000075.4(CDK4):c.168G>A (p.Glu56=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1311713	NM_000075.4(CDK4):c.167A>C (p.Glu56Ala)	CDK4, LOC130008148 (E56A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 819738	NM_000075.4(CDK4):c.165T>G (p.Arg55=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1358451	NM_000075.4(CDK4):c.164G>A (p.Arg55His)	CDK4, LOC130008148 (R55H)	Single nucleotide variant (missense variant)	Familial melanoma +1 more	GUncertain significance
Select item 485492	NM_000075.4(CDK4):c.163C>G (p.Arg55Gly)	CDK4, LOC130008148 (R55G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 483299	NM_000075.4(CDK4):c.163C>T (p.Arg55Cys)	CDK4, LOC130008148 (R55C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 439046	NM_000075.4(CDK4):c.155G>A (p.Ser52Asn)	CDK4, LOC130008148 (S52N)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 483301	NM_000075.4(CDK4):c.153C>T (p.Ile51=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 414922	NM_000075.4(CDK4):c.147T>C (p.Leu49=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Familial melanoma +1 more	GLikely benign
Select item 1772896	NM_000075.4(CDK4):c.144C>T (p.Gly48=)	LOC130008148, CDK4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1772884	NM_000075.4(CDK4):c.144C>A (p.Gly48=)	LOC130008148, CDK4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1501643	NM_000075.4(CDK4):c.135_143dup (p.Gly46_Gly48dup)	CDK4, LOC130008148	Duplication (inframe_insertion)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 844832	NM_000075.4(CDK4):c.132_143dup (p.Gly45_Gly48dup)	CDK4, LOC130008148	Duplication (inframe_insertion)	Familial melanoma +1 more	GUncertain significance
Select item 818929	NM_000075.4(CDK4):c.135_143del (p.Gly46_Gly48del)	CDK4, LOC130008148	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 483300	NM_000075.4(CDK4):c.138AGG[1] (p.Gly48del)	CDK4, LOC130008148 (G48del)	Microsatellite (inframe_deletion)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 419254	NM_000075.4(CDK4):c.132_143del (p.Gly45_Gly48del)	CDK4, LOC130008148	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 645846	NM_000075.4(CDK4):c.142G>A (p.Gly48Ser)	CDK4, LOC130008148 (G48S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 215629	NM_000075.4(CDK4):c.141A>C (p.Gly47=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 231912	NM_000075.4(CDK4):c.126AGG[2] (p.Gly48del)	CDK4, LOC130008148 (G48del)	Microsatellite (inframe_deletion)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 233299	NM_000075.4(CDK4):c.133G>A (p.Gly45Ser)	CDK4, LOC130008148 (G45S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 236940	NM_000075.4(CDK4):c.132A>T (p.Gly44=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Familial melanoma +1 more	GLikely benign
Select item 1767614	NM_000075.4(CDK4):c.127G>A (p.Gly43Arg)	CDK4, LOC130008148 (G43R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 645122	NM_000075.4(CDK4):c.127G>C (p.Gly43Arg)	CDK4, LOC130008148 (G43R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1764938	NM_000075.4(CDK4):c.126A>C (p.Gly42=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2586839	NM_000075.4(CDK4):c.123T>C (p.Asn41=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 135822	NM_000075.4(CDK4):c.122A>G (p.Asn41Ser)	CDK4, LOC130008148 (N41S)	Single nucleotide variant (missense variant)	CDK4-related condition +5 more	GConflicting classifications of pathogenicity
Select item 1153325	NM_000075.4(CDK4):c.120C>T (p.Pro40=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Familial melanoma +1 more	GLikely benign

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Items: 44