ClinVar for MedGen (Select 373202) - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1006266	NM_000075.4(CDK4):c.632+6G>A	CDK4	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 3 +1 more	GConflicting classifications of pathogenicity
Select item 884129	NM_005981.5(TSPAN31):c.*964T>C	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GUncertain significance
Select item 884128	NM_005981.5(TSPAN31):c.*902A>G	TSPAN31, CDK4	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GUncertain significance
Select item 882420	NM_005981.5(TSPAN31):c.*811C>T	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GUncertain significance
Select item 882224	NM_000075.4(CDK4):c.-74C>T	CDK4	Single nucleotide variant (5 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GUncertain significance
Select item 882173	NM_005981.5(TSPAN31):c.*501G>A	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GUncertain significance
Select item 882172	NM_005981.5(TSPAN31):c.*484G>A	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 880834	NM_000075.4(CDK4):c.414C>G (p.His138Gln)	CDK4 (H138Q)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GUncertain significance
Select item 802870	NC_000012.12:g.57752476A>G	CDK4	Single nucleotide variant	not provided +1 more	GLikely benign
Select item 802869	NC_000012.12:g.57752350C>T	CDK4	Single nucleotide variant	Melanoma, cutaneous malignant, susceptibility to, 3	GUncertain significance
Select item 802868	NM_000075.4(CDK4):c.523-20A>T	CDK4	Single nucleotide variant (intron variant)	Familial melanoma +1 more	GLikely benign
Select item 584828	NM_000075.4(CDK4):c.133G>C (p.Gly45Arg)	CDK4, LOC130008148 (G45R)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GUncertain significance
Select item 584827	NM_000075.4(CDK4):c.155G>T (p.Ser52Ile)	CDK4, LOC130008148 (S52I)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GUncertain significance
Select item 548744	NM_000075.4(CDK4):c.505_522+5del	CDK4	Deletion (splice donor variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GUncertain significance
Select item 483309	NM_000075.4(CDK4):c.841C>T (p.His281Tyr)	CDK4, TSPAN31 (H281Y)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 483289	NM_000075.4(CDK4):c.416G>A (p.Arg139Gln)	CDK4 (R139Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 463476	NM_005981.5(TSPAN31):c.*2222G>A	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	CDK4-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 463475	NM_000075.4(CDK4):c.632+9C>T	CDK4	Single nucleotide variant (intron variant)	Familial melanoma +1 more	GConflicting classifications of pathogenicity
Select item 463470	NM_000075.4(CDK4):c.504G>A (p.Gln168=)	CDK4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 463468	NM_000075.4(CDK4):c.49T>C (p.Tyr17His)	CDK4 (Y17H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 463463	NM_000075.4(CDK4):c.19G>A (p.Glu7Lys)	CDK4 (E7K)	Single nucleotide variant (missense variant)	Familial melanoma +2 more	GUncertain significance
Select item 419527	NM_000075.4(CDK4):c.14G>A (p.Arg5Gln)	CDK4 (R5Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 419254	NM_000075.4(CDK4):c.132_143del (p.Gly45_Gly48del)	CDK4, LOC130008148	Deletion (inframe_deletion)	Familial melanoma +4 more	GUncertain significance
Select item 408337	NM_000075.4(CDK4):c.504G>C (p.Gln168His)	CDK4 (Q168H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 392783	NM_000075.4(CDK4):c.355-12C>T	CDK4	Single nucleotide variant (intron variant)	Familial melanoma +3 more	GLikely benign
Select item 387376	NM_000075.4(CDK4):c.660C>T (p.Ala220=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 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
Select item 309984	NM_000075.4(CDK4):c.-100G>T	CDK4	Single nucleotide variant (5 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3 +1 more	GUncertain significance
Select item 309983	NM_000075.4(CDK4):c.-60C>G	CDK4	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 309982	NM_000075.4(CDK4):c.-55A>T	CDK4	Single nucleotide variant (5 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GUncertain significance
Select item 309981	NM_000075.4(CDK4):c.-54C>T	CDK4	Single nucleotide variant (5 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GUncertain significance
Select item 309980	NM_000075.4(CDK4):c.267A>G (p.Val89=)	CDK4	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 3 +2 more	GConflicting classifications of pathogenicity
Select item 309979	NM_000075.4(CDK4):c.690T>C (p.Ile230=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3 +2 more	GConflicting classifications of pathogenicity
Select item 309978	NM_000075.4(CDK4):c.747T>C (p.Phe249=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3 +2 more	GConflicting classifications of pathogenicity
Select item 309977	NM_005981.5(TSPAN31):c.*1025C>T	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3 +1 more	GBenign
Select item 309976	NM_005981.5(TSPAN31):c.*989C>A	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GUncertain significance
Select item 309973	NM_005981.5(TSPAN31):c.*916C>T	TSPAN31, CDK4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 309972	NM_005981.5(TSPAN31):c.*865A>C	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 309971	NM_005981.5(TSPAN31):c.*798G>C	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 309970	NM_005981.5(TSPAN31):c.*756A>G	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GUncertain significance
Select item 309969	NM_005981.5(TSPAN31):c.*744G>A	TSPAN31, CDK4	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 309968	NM_005981.5(TSPAN31):c.*714C>T	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 309967	NM_005981.5(TSPAN31):c.*546G>A	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GUncertain significance
Select item 309966	NM_005981.5(TSPAN31):c.*545C>T	TSPAN31, CDK4	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GUncertain significance
Select item 309965	NM_005981.5(TSPAN31):c.*529C>T	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3 +1 more	GBenign
Select item 246400	NM_000075.4(CDK4):c.898G>A (p.Gly300Ser)	CDK4, TSPAN31 (G300S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 231912	NM_000075.4(CDK4):c.126AGG[2] (p.Gly48del)	CDK4, LOC130008148 (G48del)	Microsatellite (inframe_deletion)	Familial melanoma +3 more	GUncertain significance
Select item 230297	NM_000075.4(CDK4):c.829A>G (p.Thr277Ala)	TSPAN31, CDK4 (T277A)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +3 more	GUncertain significance
Select item 220339	NM_000075.4(CDK4):c.689T>C (p.Ile230Thr)	CDK4, TSPAN31 (I230T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 186813	NM_000075.4(CDK4):c.549C>T (p.Pro183=)	CDK4	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 186740	NM_000075.4(CDK4):c.42C>T (p.Val14=)	CDK4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 184906	NM_000075.4(CDK4):c.520G>A (p.Val174Met)	CDK4 (V174M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 184409	NM_000075.4(CDK4):c.306A>G (p.Thr102=)	CDK4	Single nucleotide variant (synonymous variant)	Familial melanoma +5 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)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 184152	NM_000075.4(CDK4):c.447A>G (p.Thr149=)	CDK4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 184151	NM_000075.4(CDK4):c.696G>A (p.Leu232=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign
Select item 182405	NM_000075.4(CDK4):c.779T>A (p.Val260Glu)	TSPAN31, CDK4 (V260E)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +4 more	GConflicting classifications of pathogenicity
Select item 142091	NM_005981.5(TSPAN31):c.*2031T>A	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3 +4 more	GBenign/Likely benign
Select item 135825	NM_000075.4(CDK4):c.625C>T (p.Arg209Cys)	CDK4 (R209C)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 3 +4 more	GConflicting classifications of pathogenicity
Select item 135822	NM_000075.4(CDK4):c.122A>G (p.Asn41Ser)	CDK4, LOC130008148 (N41S)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 133877	NM_000075.4(CDK4):c.763C>T (p.Arg255Cys)	CDK4, TSPAN31 (R255C)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3 +4 more	GConflicting classifications of pathogenicity
Select item 133876	NM_000075.4(CDK4):c.661G>A (p.Asp221Asn)	CDK4, TSPAN31 (D221N)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3 +4 more	GConflicting classifications of pathogenicity
Select item 133874	NM_000075.4(CDK4):c.364C>T (p.Arg122Cys)	CDK4 (R122C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 127520	NM_000075.4(CDK4):c.776C>T (p.Ser259Leu)	CDK4, TSPAN31 (S259L)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +5 more	GConflicting classifications of pathogenicity
Select item 16929	NM_000075.4(CDK4):c.71G>A (p.Arg24His)	CDK4 (R24H)	Single nucleotide variant (missense variant)	Familial melanoma +1 more	GPathogenic
Select item 16928	NM_000075.4(CDK4):c.70C>T (p.Arg24Cys)	CDK4 (R24C)	Single nucleotide variant (missense variant)	Familial melanoma +3 more	GPathogenic

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Items: 66