1583[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 149561	GRCh38/hg38 12p13.33-13.32(chr12:80412-4420585)x1	ADIPOR2, B4GALNT3 +170 more	Copy number loss	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
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 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 147690	GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1	ADIPOR2, AKAP3 +218 more	Copy number loss	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 155290	GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3	ADIPOR2, AKAP3 +223 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 58983	GRCh38/hg38 12p13.33-13.32(chr12:2492728-4829842)x1	AKAP3, CACNA1C +91 more	Copy number loss	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 146376	GRCh38/hg38 12p13.32(chr12:3617675-4492591)x3	CCND2, CCND2-AS1 +30 more	Copy number gain	See cases	GLikely benign
Select item 673833	NM_001759.3(CCND2):c.-608A>G	CCND2, CCND2-AS1	Single nucleotide variant	not provided	GBenign
Select item 678294	NM_001759.4(CCND2):c.-171C>T	CCND2, CCND2-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1192627	NM_001759.4(CCND2):c.-49T>C	CCND2, CCND2-AS1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 507367	NM_001759.4(CCND2):c.-36G>T	CCND2, CCND2-AS1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
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 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 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 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 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 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 1280861	NM_001759.4(CCND2):c.114T>G (p.Leu38=)	CCND2, CCND2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3257387	NM_001759.4(CCND2):c.122G>A (p.Cys41Tyr)	CCND2, CCND2-AS1 (C41Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371289	NM_001759.4(CCND2):c.137G>C (p.Cys46Ser)	CCND2, CCND2-AS1 (C46S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958548	NM_001759.4(CCND2):c.195+13dup	CCND2, CCND2-AS1	Duplication (intron variant)	not provided	GBenign
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 1209058	NM_001759.4(CCND2):c.195+269A>C	CCND2, CCND2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3264540	NM_001759.4(CCND2):c.196-205_250del	CCND2, CCND2-AS1	Deletion (splice acceptor variant)	Inborn genetic diseases	GUncertain significance
Select item 1204105	NM_001759.4(CCND2):c.196-104A>T	CCND2, CCND2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195560	NM_001759.4(CCND2):c.196-31G>C	CCND2, CCND2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 774212	NM_001759.4(CCND2):c.196-7A>C	CCND2, CCND2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2715815	NM_001759.4(CCND2):c.222A>G (p.Glu74=)	CCND2, CCND2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1649879	NM_001759.4(CCND2):c.234T>A (p.Pro78=)	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 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 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 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 1916851	NM_001759.4(CCND2):c.357C>T (p.Thr119=)	CCND2-AS1, CCND2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2955644	NM_001759.4(CCND2):c.381C>G (p.Thr127=)	CCND2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3257543	NM_001759.4(CCND2):c.391A>G (p.Ile131Val)	CCND2 (I131V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1912524	NM_001759.4(CCND2):c.411+7A>T	CCND2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676960	NM_001759.4(CCND2):c.412-108C>T	CCND2	Single nucleotide variant (intron variant)	not provided	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 806775	NM_001759.4(CCND2):c.455C>A (p.Ala152Glu)	CCND2 (A152E)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 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 2981173	NM_001759.4(CCND2):c.504C>G (p.Pro168=)	CCND2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744594	NM_001759.4(CCND2):c.504C>T (p.Pro168=)	CCND2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3346642	NM_001759.4(CCND2):c.506A>G (p.Gln169Arg)	CCND2 (Q169R)	Single nucleotide variant (missense variant)	CCND2-related disorder	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 2173931	NM_001759.4(CCND2):c.512G>A (p.Arg171Gln)	CCND2 (R171Q)	Single nucleotide variant (missense 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 507274	NM_001759.4(CCND2):c.524C>G (p.Ser175Cys)	CCND2 (S175C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2619766	NM_001759.4(CCND2):c.532C>T (p.Arg178Cys)	CCND2 (R178C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1319226	NM_001759.4(CCND2):c.544C>T (p.Gln182Ter)	CCND2 (Q182*)	Single nucleotide variant (nonsense)	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 2314318	NM_001759.4(CCND2):c.566C>T (p.Ala189Val)	CCND2 (A189V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 380772	NM_001759.4(CCND2):c.570C>G (p.Thr190=)	CCND2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1658489	NM_001759.4(CCND2):c.571+18C>T	CCND2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 385080	NM_001759.4(CCND2):c.571+20G>A	CCND2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1198828	NM_001759.4(CCND2):c.571+57G>A	CCND2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216458	NM_001759.4(CCND2):c.571+168A>G	CCND2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220672	NM_001759.4(CCND2):c.571+186C>T	CCND2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211164	NM_001759.4(CCND2):c.571+239A>C	CCND2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2642580	NM_001759.4(CCND2):c.572-3531C>T	CCND2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1572073	NM_001759.4(CCND2):c.572-17C>T	CCND2	Single nucleotide variant (intron variant)	not provided	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 2504353	NM_001759.4(CCND2):c.588G>A (p.Met196Ile)	CCND2 (M196I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 986248	NM_001759.4(CCND2):c.593C>G (p.Pro198Arg)	CCND2 (P198R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2870823	NM_001759.4(CCND2):c.594A>G (p.Pro198=)	CCND2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 391416	NM_001759.4(CCND2):c.597G>A (p.Pro199=)	CCND2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2971513	NM_001759.4(CCND2):c.606C>T (p.Ile202=)	CCND2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2579408	NM_001759.4(CCND2):c.614G>C (p.Gly205Ala)	CCND2 (G205A)	Single nucleotide variant (missense variant)	not provided	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 741208	NM_001759.4(CCND2):c.687T>G (p.Thr229=)	CCND2	Single nucleotide variant (synonymous variant)	not provided	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 1293193	NM_001759.4(CCND2):c.720+195del	CCND2	Deletion (intron variant)	not provided	GBenign
Select item 1199906	NM_001759.4(CCND2):c.720+294T>C	CCND2	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
Select item 677577	NM_001759.4(CCND2):c.721-109C>T	CCND2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988203	NM_001759.4(CCND2):c.721-11C>T	CCND2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2372854	NM_001759.4(CCND2):c.747G>T (p.Gln249His)	CCND2 (Q249H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1387213	NM_001759.4(CCND2):c.755C>A (p.Ala252Glu)	CCND2 (A252E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 511836	NM_001759.4(CCND2):c.756G>A (p.Ala252=)	CCND2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 451218	NM_001759.4(CCND2):c.763C>A (p.Leu255Ile)	CCND2 (L255I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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