1019[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic
Select item 59020	GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1	AGAP2, AGAP2-AS1 +162 more	Copy number loss	See cases	GPathogenic
Select item 309963	NM_000075.4(CDK4):c.*777dup	CDK4, TSPAN31	Duplication (3 prime UTR variant)	Cutaneous Malignant Melanoma, Dominant +1 more	GUncertain significance
Select item 309964	NM_000075.4(CDK4):c.*760GT[1]	CDK4, TSPAN31	Microsatellite (3 prime UTR variant)	Cutaneous Malignant Melanoma, Dominant	GUncertain significance
Select item 882172	NM_000075.4(CDK4):c.*751C>T	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 882173	NM_000075.4(CDK4):c.*734C>T	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GUncertain significance
Select item 309965	NM_000075.4(CDK4):c.*706G>A	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 309966	NM_000075.4(CDK4):c.*690G>A	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GUncertain significance
Select item 309967	NM_000075.4(CDK4):c.*689C>T	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GUncertain significance
Select item 309968	NM_000075.4(CDK4):c.*521G>A	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3 +1 more	GBenign
Select item 309969	NM_000075.4(CDK4):c.*491C>T	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 309970	NM_000075.4(CDK4):c.*479T>C	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GUncertain significance
Select item 309971	NM_000075.4(CDK4):c.*437C>G	TSPAN31, CDK4	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 882420	NM_000075.4(CDK4):c.*424G>A	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GUncertain significance
Select item 309972	NM_000075.4(CDK4):c.*370T>G	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 884128	NM_000075.4(CDK4):c.*333T>C	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GUncertain significance
Select item 309973	NM_000075.4(CDK4):c.*319G>A	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3 +1 more	GUncertain significance
Select item 309974	NM_000075.4(CDK4):c.*303dup	CDK4, TSPAN31	Duplication (3 prime UTR variant)	Cutaneous Malignant Melanoma, Dominant +1 more	GUncertain significance
Select item 309975	NM_000075.4(CDK4):c.*303del	CDK4, TSPAN31	Deletion (3 prime UTR variant)	Cutaneous Malignant Melanoma, Dominant	GUncertain significance
Select item 884129	NM_000075.4(CDK4):c.*271A>G	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GUncertain significance
Select item 309976	NM_000075.4(CDK4):c.*246G>T	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GUncertain significance
Select item 309977	NM_000075.4(CDK4):c.*210G>A	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 384740	NM_000075.4(CDK4):c.*12G>C	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 583824	NC_000012.11:g.(?_58142298)_(58145510_?)dup	CDK4, LOC130008148 +2 more	Duplication	Familial melanoma	GUncertain significance
Select item 188065	NM_000075.4(CDK4):c.*5T>C	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	Familial melanoma	GUncertain significance
Select item 1338185	NM_000075.4(CDK4):c.*2C>T	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 823029	NM_000075.4(CDK4):c.911G>T (p.Ter304Leu)	CDK4, TSPAN31	Single nucleotide variant (stop lost +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1440671	NM_000075.4(CDK4):c.910T>A (p.Ter304Arg)	CDK4, TSPAN31	Single nucleotide variant (stop lost +1 more)	Familial melanoma	GUncertain significance
Select item 2746564	NM_000075.4(CDK4):c.907G>T (p.Glu303Ter)	CDK4, TSPAN31 (E303*)	Single nucleotide variant (nonsense +1 more)	Familial melanoma	GUncertain significance
Select item 1765708	NM_000075.4(CDK4):c.907G>C (p.Glu303Gln)	CDK4, TSPAN31 (E303Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1765323	NM_000075.4(CDK4):c.898_907del (p.Gly300fs)	CDK4, TSPAN31 (G300fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1042239	NM_000075.4(CDK4):c.907G>A (p.Glu303Lys)	CDK4, TSPAN31 (E303K)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 1091234	NM_000075.4(CDK4):c.906G>C (p.Pro302=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma	GLikely benign
Select item 463480	NM_000075.4(CDK4):c.906G>A (p.Pro302=)	TSPAN31, CDK4	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma +1 more	GLikely benign
Select item 574349	NM_000075.4(CDK4):c.905C>T (p.Pro302Leu)	TSPAN31, CDK4 (P302L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1364093	NM_000075.4(CDK4):c.904C>G (p.Pro302Ala)	CDK4, TSPAN31 (P302A)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 2135777	NM_000075.4(CDK4):c.889_903del (p.Lys297_Asn301del)	CDK4, TSPAN31	Deletion (inframe_deletion +1 more)	Familial melanoma	GUncertain significance
Select item 968628	NM_000075.4(CDK4):c.902A>G (p.Asn301Ser)	CDK4, TSPAN31 (N301S)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +1 more	GUncertain significance
Select item 233433	NM_000075.4(CDK4):c.901A>C (p.Asn301His)	TSPAN31, CDK4 (N301H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2812839	NM_000075.4(CDK4):c.899G>T (p.Gly300Val)	CDK4, TSPAN31 (G300V)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 1765387	NM_000075.4(CDK4):c.899G>C (p.Gly300Ala)	CDK4, TSPAN31 (G300A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 822862	NM_000075.4(CDK4):c.897A>T (p.Glu299Asp)	CDK4, TSPAN31 (E299D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 485491	NM_000075.4(CDK4):c.896A>G (p.Glu299Gly)	CDK4, TSPAN31 (E299G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 961396	NM_000075.4(CDK4):c.895G>A (p.Glu299Lys)	CDK4, TSPAN31 (E299K)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 2856499	NM_000075.4(CDK4):c.893A>T (p.Asp298Val)	CDK4, TSPAN31 (D298V)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 959033	NM_000075.4(CDK4):c.892G>A (p.Asp298Asn)	CDK4, TSPAN31 (D298N)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +2 more	GUncertain significance
Select item 1059743	NM_000075.4(CDK4):c.890del (p.Lys297fs)	CDK4, TSPAN31 (K297fs)	Deletion (frameshift variant +1 more)	Familial melanoma	GUncertain significance
Select item 1765015	NM_000075.4(CDK4):c.889A>G (p.Lys297Glu)	CDK4, TSPAN31 (K297E)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	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 1765001	NM_000075.4(CDK4):c.888T>G (p.His296Gln)	CDK4, TSPAN31 (H296Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 186037	NM_000075.4(CDK4):c.887A>G (p.His296Arg)	CDK4, TSPAN31 (H296R)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +1 more	GUncertain significance
Select item 188345	NM_000075.4(CDK4):c.886C>T (p.His296Tyr)	CDK4, TSPAN31 (H296Y)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +3 more	GConflicting classifications of pathogenicity
Select item 1612924	NM_000075.4(CDK4):c.885A>G (p.Leu295=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma	GLikely benign
Select item 1493841	NM_000075.4(CDK4):c.880_884del (p.Tyr294fs)	CDK4, TSPAN31 (Y294fs)	Deletion (frameshift variant +1 more)	Familial melanoma	GUncertain significance
Select item 483280	NM_000075.4(CDK4):c.882T>C (p.Tyr294=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 841483	NM_000075.4(CDK4):c.881A>G (p.Tyr294Cys)	CDK4, TSPAN31 (Y294C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 801143	NM_000075.4(CDK4):c.880dup (p.Tyr294fs)	CDK4, TSPAN31 (Y294fs)	Duplication (frameshift variant +1 more)	Familial melanoma +1 more	GUncertain significance
Select item 2067880	NM_000075.4(CDK4):c.880T>C (p.Tyr294His)	CDK4, TSPAN31 (Y294H)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 1764657	NM_000075.4(CDK4):c.878C>G (p.Ser293Cys)	CDK4, TSPAN31 (S293C)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 822721	NM_000075.4(CDK4):c.876C>T (p.His292=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1764562	NM_000075.4(CDK4):c.875A>G (p.His292Arg)	CDK4, TSPAN31 (H292R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1046694	NM_000075.4(CDK4):c.872A>C (p.Gln291Pro)	CDK4, TSPAN31 (Q291P)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 952526	NM_000075.4(CDK4):c.871dup (p.Gln291fs)	CDK4, TSPAN31 (Q291fs)	Duplication (frameshift variant +1 more)	Familial melanoma	GUncertain significance
Select item 2840080	NM_000075.4(CDK4):c.870G>A (p.Leu290=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma	GLikely benign
Select item 1095351	NM_000075.4(CDK4):c.870G>T (p.Leu290=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 822675	NM_000075.4(CDK4):c.870G>C (p.Leu290=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma +1 more	GLikely benign
Select item 3265467	NM_000075.4(CDK4):c.869del (p.Leu290fs)	CDK4, TSPAN31 (L290fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 822668	NM_000075.4(CDK4):c.869T>C (p.Leu290Pro)	CDK4, TSPAN31 (L290P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 3230249	NM_000075.4(CDK4):c.868C>G (p.Leu290Val)	CDK4, TSPAN31 (L290V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 758100	NM_000075.4(CDK4):c.868C>T (p.Leu290=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 495535	NM_000075.4(CDK4):c.868C>A (p.Leu290Met)	TSPAN31, CDK4 (L290M)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +2 more	GUncertain significance
Select item 822640	NM_000075.4(CDK4):c.866del (p.Ala289fs)	CDK4, TSPAN31 (A289fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1089164	NM_000075.4(CDK4):c.864A>T (p.Arg288=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma +1 more	GLikely benign
Select item 1764133	NM_000075.4(CDK4):c.863G>T (p.Arg288Leu)	CDK4, TSPAN31 (R288L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 822622	NM_000075.4(CDK4):c.863G>C (p.Arg288Pro)	CDK4, TSPAN31 (R288P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 246278	NM_000075.4(CDK4):c.863G>A (p.Arg288Gln)	CDK4, TSPAN31 (R288Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 857478	NM_000075.4(CDK4):c.862C>T (p.Arg288Ter)	CDK4, TSPAN31 (R288*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 127521	NM_000075.4(CDK4):c.862C>G (p.Arg288Gly)	CDK4, TSPAN31 (R288G)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +1 more	GUncertain significance
Select item 1763941	NM_000075.4(CDK4):c.858C>T (p.Ala286=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1443282	NM_000075.4(CDK4):c.857C>T (p.Ala286Val)	CDK4, TSPAN31 (A286V)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 1763888	NM_000075.4(CDK4):c.856G>A (p.Ala286Thr)	CDK4, TSPAN31 (A286T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 642473	NM_000075.4(CDK4):c.856G>T (p.Ala286Ser)	CDK4, TSPAN31 (A286S)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 2028204	NM_000075.4(CDK4):c.855T>G (p.Ser285=)	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Familial melanoma	GLikely benign
Select item 2452466	NM_000075.4(CDK4):c.852C>A (p.Ile284=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 232210	NM_000075.4(CDK4):c.851T>C (p.Ile284Thr)	CDK4, TSPAN31 (I284T)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +2 more	GUncertain significance
Select item 182406	NM_000075.4(CDK4):c.850A>G (p.Ile284Val)	CDK4, TSPAN31 (I284V)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +1 more	GUncertain significance
Select item 822510	NM_000075.4(CDK4):c.849A>G (p.Arg283=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma +1 more	GLikely benign
Select item 1054508	NM_000075.4(CDK4):c.848G>C (p.Arg283Pro)	CDK4, TSPAN31 (R283P)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 822506	NM_000075.4(CDK4):c.848G>A (p.Arg283Gln)	CDK4, TSPAN31 (R283Q)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +1 more	GUncertain significance
Select item 855552	NM_000075.4(CDK4):c.847C>T (p.Arg283Ter)	CDK4, TSPAN31 (R283*)	Single nucleotide variant (nonsense +1 more)	Familial melanoma +1 more	GUncertain significance
Select item 483311	NM_000075.4(CDK4):c.846G>A (p.Lys282=)	TSPAN31, CDK4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1718625	NM_000075.4(CDK4):c.845A>G (p.Lys282Arg)	CDK4, TSPAN31 (K282R)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 1493253	NM_000075.4(CDK4):c.845A>C (p.Lys282Thr)	CDK4, TSPAN31 (K282T)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 1996311	NM_000075.4(CDK4):c.843C>G (p.His281Gln)	CDK4, TSPAN31 (H281Q)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 414923	NM_000075.4(CDK4):c.843C>T (p.His281=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma +1 more	GLikely benign
Select item 1006345	NM_000075.4(CDK4):c.841C>A (p.His281Asn)	CDK4, TSPAN31 (H281N)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	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 232051	NM_000075.4(CDK4):c.841C>G (p.His281Asp)	TSPAN31, CDK4 (H281D)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +2 more	GUncertain significance

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