ClinVar for Gene (Select 894) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237411	NM_001759.4(CCND2):c.774G>C (p.Leu258=)	CCND2	Single nucleotide variant (synonymous variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	GUncertain significance
Select item 3139899	NM_001759.4(CCND2):c.344C>G (p.Thr115Ser)	CCND2, CCND2-AS1 (T115S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3139898	NM_001759.4(CCND2):c.113T>G (p.Leu38Arg)	CCND2, CCND2-AS1 (L38R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3066255	NM_001759.4(CCND2):c.196-1G>A	CCND2, CCND2-AS1	Single nucleotide variant (splice acceptor variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	GUncertain significance
Select item 3063259	GRCh37/hg19 12p13.33-13.31(chr12:2246103-5406692)x1	AKAP3, CACNA1C +23 more	Copy number loss	not specified	GLikely pathogenic
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3061433	NM_001759.4(CCND2):c.853C>A (p.Arg285=)	CCND2	Single nucleotide variant (synonymous variant)	CCND2-related disorder	GLikely benign
Select item 3054551	NM_001759.4(CCND2):c.702G>A (p.Lys234=)	CCND2	Single nucleotide variant (synonymous variant)	CCND2-related disorder	GLikely benign
Select item 3043450	NM_001759.4(CCND2):c.572-4G>T	CCND2	Single nucleotide variant (intron variant)	CCND2-related disorder	GLikely benign
Select item 3036591	NM_001759.4(CCND2):c.33C>T (p.Val11=)	CCND2, CCND2-AS1	Single nucleotide variant (synonymous variant)	CCND2-related disorder	GLikely benign
Select item 3027165	NM_001759.4(CCND2):c.441G>A (p.Leu147=)	CCND2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3008247	NM_001759.4(CCND2):c.611C>G (p.Thr204Ser)	CCND2 (T204S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990288	NM_001759.4(CCND2):c.196-19T>C	CCND2, CCND2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989027	NM_001759.4(CCND2):c.755C>T (p.Ala252Val)	CCND2 (A252V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988203	NM_001759.4(CCND2):c.721-11C>T	CCND2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981173	NM_001759.4(CCND2):c.504C>G (p.Pro168=)	CCND2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978029	NM_001759.4(CCND2):c.802G>C (p.Gly268Arg)	CCND2 (G268R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971513	NM_001759.4(CCND2):c.606C>T (p.Ile202=)	CCND2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958548	NM_001759.4(CCND2):c.195+13dup	CCND2, CCND2-AS1	Duplication (intron variant)	not provided	GBenign
Select item 2955644	NM_001759.4(CCND2):c.381C>G (p.Thr127=)	CCND2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870823	NM_001759.4(CCND2):c.594A>G (p.Pro198=)	CCND2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867085	NM_001759.4(CCND2):c.775C>T (p.Gln259Ter)	CCND2 (Q259*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2818548	NM_001759.4(CCND2):c.9G>A (p.Leu3=)	CCND2, CCND2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809676	NM_001759.4(CCND2):c.25G>T (p.Asp9Tyr)	CCND2, CCND2-AS1 (D9Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2782373	NM_001759.4(CCND2):c.858T>G (p.Asp286Glu)	CCND2 (D286E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2768438	NM_001759.4(CCND2):c.344C>T (p.Thr115Ile)	CCND2, CCND2-AS1 (T115I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2715815	NM_001759.4(CCND2):c.222A>G (p.Glu74=)	CCND2, CCND2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706140	NM_001759.4(CCND2):c.308C>T (p.Ala103Val)	CCND2, CCND2-AS1 (A103V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2685429	GRCh37/hg19 12p13.33-13.32(chr12:191243-5332596)x1	ADIPOR2, AKAP3 +40 more	Copy number loss	not provided	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2642590	NM_001759.4(CCND2):c.*3991C>T	CCND2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2642589	NM_001759.4(CCND2):c.*2539C>A	CCND2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2642588	NM_001759.4(CCND2):c.*2206C>T	CCND2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2642587	NM_001759.4(CCND2):c.*1872G>A	CCND2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2642586	NM_001759.4(CCND2):c.*1256C>T	CCND2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2642585	NM_001759.4(CCND2):c.*769A>G	CCND2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2642584	NM_001759.4(CCND2):c.*479T>C	CCND2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2642583	NM_001759.4(CCND2):c.*412C>T	CCND2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2642582	NM_001759.4(CCND2):c.*21GA[3]	CCND2	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 2642581	NM_001759.4(CCND2):c.854G>A (p.Arg285Gln)	CCND2 (R285Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642580	NM_001759.4(CCND2):c.572-3531C>T	CCND2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2642579	NM_001759.4(CCND2):c.522G>A (p.Leu174=)	CCND2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619766	NM_001759.4(CCND2):c.532C>T (p.Arg178Cys)	CCND2 (R178C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2590091	NM_001759.4(CCND2):c.801C>G (p.Asp267Glu)	CCND2 (D267E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579408	NM_001759.4(CCND2):c.614G>C (p.Gly205Ala)	CCND2 (G205A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577699	NM_001759.4(CCND2):c.851_856dup (p.Arg285_Asp286insValArg)	CCND2	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2504353	NM_001759.4(CCND2):c.588G>A (p.Met196Ile)	CCND2 (M196I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504114	NM_001759.4(CCND2):c.812C>A (p.Ser271Ter)	CCND2 (S271*)	Single nucleotide variant (nonsense)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	GLikely pathogenic
Select item 2446510	NM_001759.4(CCND2):c.493C>T (p.Arg165Cys)	CCND2 (R165C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2439813	NM_001759.4(CCND2):c.494G>A (p.Arg165His)	CCND2 (R165H)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	GUncertain significance
Select item 2426569	NC_000012.11:g.(?_4368352)_(4796274_?)del	AKAP3, C12orf4 +7 more	Deletion	not provided	GUncertain significance
Select item 2424233	NC_000012.11:g.(?_4383207)_(4409175_?)dup	CCND2	Duplication	not provided	GUncertain significance
Select item 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	A2ML1, ACRBP +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2422593	NC_000012.11:g.(?_4368352)_(5155155_?)dup	AKAP3, CCND2 +11 more	Duplication	Episodic ataxia type 1	GUncertain significance
Select item 2391370	NM_001759.4(CCND2):c.352C>A (p.Leu118Met)	CCND2, CCND2-AS1 (L118M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372854	NM_001759.4(CCND2):c.747G>T (p.Gln249His)	CCND2 (Q249H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324207	NM_001759.4(CCND2):c.88C>A (p.Leu30Met)	CCND2, CCND2-AS1 (L30M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314318	NM_001759.4(CCND2):c.566C>T (p.Ala189Val)	CCND2 (A189V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228825	NM_001759.4(CCND2):c.665C>T (p.Ser222Leu)	CCND2 (S222L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2173931	NM_001759.4(CCND2):c.512G>A (p.Arg171Gln)	CCND2 (R171Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2120494	NM_001759.4(CCND2):c.509A>G (p.Gln170Arg)	CCND2 (Q170R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2024329	NM_001759.4(CCND2):c.195+17C>A	CCND2, CCND2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1916851	NM_001759.4(CCND2):c.357C>T (p.Thr119=)	CCND2, CCND2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1912524	NM_001759.4(CCND2):c.411+7A>T	CCND2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1901460	NM_001759.4(CCND2):c.94A>G (p.Thr32Ala)	CCND2, CCND2-AS1 (T32A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1806540	NM_001759.4(CCND2):c.100G>C (p.Glu34Gln)	CCND2, CCND2-AS1 (E34Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1805679	NM_001759.4(CCND2):c.559C>G (p.Leu187Val)	CCND2 (L187V)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	GUncertain significance
Select item 1661484	NM_001759.4(CCND2):c.231C>T (p.Phe77=)	CCND2, CCND2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1658489	NM_001759.4(CCND2):c.571+18C>T	CCND2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1649879	NM_001759.4(CCND2):c.234T>A (p.Pro78=)	CCND2, CCND2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1602778	NM_001759.4(CCND2):c.801C>T (p.Asp267=)	CCND2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1572073	NM_001759.4(CCND2):c.572-17C>T	CCND2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1527677	GRCh37/hg19 12p13.33-13.32(chr12:2790077-5325700)	AKAP3, C12orf4 +23 more	Copy number loss	not specified	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1525086	NM_001759.4(CCND2):c.742G>A (p.Glu248Lys)	CCND2 (E248K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1483926	NM_001759.4(CCND2):c.812C>T (p.Ser271Leu)	CCND2 (S271L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1403700	NM_001759.4(CCND2):c.806C>T (p.Ser269Phe)	CCND2 (S269F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1399898	NC_000012.11:g.(?_4368352)_(4479969_?)dup	TIGAR, CCND2 +1 more	Duplication	not provided	GUncertain significance
Select item 1387213	NM_001759.4(CCND2):c.755C>A (p.Ala252Glu)	CCND2 (A252E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1338376	NM_001759.4(CCND2):c.851T>A (p.Val284Glu)	CCND2 (V284E)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	CLEC4A, LRRC23 +106 more	Copy number gain	Single transverse palmar crease +6 more	GPathogenic
Select item 1326086	NM_001759.4(CCND2):c.*36A>C	CCND2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1319226	NM_001759.4(CCND2):c.544C>T (p.Gln182Ter)	CCND2 (Q182*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1313576	NM_001759.4(CCND2):c.826G>A (p.Asp276Asn)	CCND2 (D276N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1297671	NM_001759.4(CCND2):c.860T>G (p.Ile287Ser)	CCND2 (I287S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1293193	NM_001759.4(CCND2):c.720+195del	CCND2	Deletion (intron variant)	not provided	GBenign
Select item 1280861	NM_001759.4(CCND2):c.114T>G (p.Leu38=)	CCND2, CCND2-AS1	Single nucleotide variant (synonymous variant)	CCND2-related disorder +1 more	GBenign/Likely benign
Select item 1280659	NM_001759.4(CCND2):c.802G>A (p.Gly268Arg)	CCND2 (G268R)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1245963	NM_001759.4(CCND2):c.572-302T>A	CCND2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225707	NM_001759.4(CCND2):c.572-242G>C	CCND2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220672	NM_001759.4(CCND2):c.571+186C>T	CCND2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220485	NM_001759.4(CCND2):c.*171C>T	CCND2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign/Likely benign
Select item 1216458	NM_001759.4(CCND2):c.571+168A>G	CCND2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211164	NM_001759.4(CCND2):c.571+239A>C	CCND2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209058	NM_001759.4(CCND2):c.195+269A>C	CCND2, CCND2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206948	NM_001759.4(CCND2):c.721-319A>T	CCND2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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