3095[HGNC] - ClinVar

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Items: 88

	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 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 3086628	NM_001394779.1(DYRK4):c.350C>T (p.Pro117Leu)	DYRK4 (P117L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2546053	NM_001394779.1(DYRK4):c.440A>C (p.Gln147Pro)	DYRK4 (Q141P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263589	NM_001394779.1(DYRK4):c.458C>T (p.Ala153Val)	DYRK4 (A147V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086627	NM_001394779.1(DYRK4):c.557A>G (p.Lys186Arg)	DYRK4 (K71R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248696	NM_001394779.1(DYRK4):c.572C>G (p.Ala191Gly)	DYRK4 (A185G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209703	NM_001394779.1(DYRK4):c.733G>C (p.Val245Leu)	DYRK4 (V239L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260293	NM_001394779.1(DYRK4):c.734T>G (p.Val245Gly)	DYRK4 (V130G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354931	NM_001394779.1(DYRK4):c.805G>A (p.Ala269Thr)	DYRK4 (A263T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374880	NM_001394779.1(DYRK4):c.833C>A (p.Thr278Asn)	DYRK4 (T163N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591032	NM_001394779.1(DYRK4):c.910A>G (p.Asn304Asp)	DYRK4 (N298D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086629	NM_001394779.1(DYRK4):c.1039A>C (p.Lys347Gln)	DYRK4 (K347Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320144	NM_001394779.1(DYRK4):c.1063C>A (p.Gln355Lys)	DYRK4 (Q240K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278446	NM_001394779.1(DYRK4):c.1105A>G (p.Ser369Gly)	DYRK4 (S254G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086630	NM_001394779.1(DYRK4):c.1138A>T (p.Ile380Phe)	DYRK4, LOC130007211 (I265F +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2224873	NM_001394779.1(DYRK4):c.1144A>T (p.Ser382Cys)	DYRK4, LOC130007211 (S382C +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3274236	NM_001394779.1(DYRK4):c.1252C>G (p.Leu418Val)	DYRK4, LOC130007211 (L412V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086631	NM_001394779.1(DYRK4):c.1333A>G (p.Thr445Ala)	DYRK4 (T330A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086621	NM_001394779.1(DYRK4):c.1403A>C (p.Lys468Thr)	DYRK4 (K462T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086623	NM_001394779.1(DYRK4):c.1438G>A (p.Val480Met)	DYRK4 (V474M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341484	NM_001394779.1(DYRK4):c.1451A>G (p.Tyr484Cys)	DYRK4 (Y83C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474078	NM_001394779.1(DYRK4):c.1472T>C (p.Phe491Ser)	DYRK4 (F491S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086624	NM_001394779.1(DYRK4):c.1491A>G (p.Val497=)	DYRK4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2347108	NM_001394779.1(DYRK4):c.1534C>A (p.His512Asn)	DYRK4 (H111N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204380	NM_001394779.1(DYRK4):c.1556G>A (p.Arg519Gln)	DYRK4 (R404Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244642	NM_001394779.1(DYRK4):c.1562T>C (p.Leu521Pro)	DYRK4 (L120P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274237	NM_001394779.1(DYRK4):c.1573C>T (p.Pro525Ser)	DYRK4 (P124S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590052	NM_001394779.1(DYRK4):c.1822G>A (p.Gly608Arg)	DYRK4 (G494R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513510	NM_001394779.1(DYRK4):c.1874A>G (p.Lys625Arg)	DYRK4 (K511R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086626	NM_001394779.1(DYRK4):c.1885G>A (p.Val629Ile)	DYRK4 (V228I +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2426569	NC_000012.11:g.(?_4368352)_(4796274_?)del	AKAP3, CCND2 +7 more	Deletion	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 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1527678	GRCh37/hg19 12p13.32(chr12:4520736-4727528)	AKAP3, C12orf4 +3 more	Copy number gain	not specified	GUncertain significance
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 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 1180524	GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3	CRACR2A, ERC1 +93 more	Copy number gain	not provided	GPathogenic
Select item 1047901	GRCh37/hg19 12p13.32(chr12:3619010-5221363)	AKAP3, CCND2 +14 more	Copy number loss	Global developmental delay +1 more	GPathogenic
Select item 998926	NC_000012.11:g.(?_4479509)_(6235003_?)dup	ANO2, DYRK4 +12 more	Duplication	Episodic ataxia type 1	GUncertain significance
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 687115	GRCh37/hg19 12p13.33-13.31(chr12:173786-6346092)x1	ADIPOR2, AKAP3 +44 more	Copy number loss	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 685635	GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3	ACRBP, ACSM4 +107 more	Copy number gain	not provided	GPathogenic
Select item 625811	GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	ACRBP, ACSM4 +102 more	Copy number gain	not provided	GPathogenic
Select item 625810	GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563988	GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3	ACRBP, ACSM4 +101 more	Copy number gain	not provided	GPathogenic
Select item 563987	GRCh37/hg19 12p13.33-13.31(chr12:173786-6201932)x1	ADIPOR2, AKAP3 +43 more	Copy number loss	not provided	GPathogenic
Select item 563986	GRCh37/hg19 12p13.33-13.31(chr12:173786-6039841)x1	ADIPOR2, AKAP3 +42 more	Copy number loss	not provided	GPathogenic
Select item 563985	GRCh37/hg19 12p13.33-13.31(chr12:173786-5952112)x1	ADIPOR2, AKAP3 +42 more	Copy number loss	not provided	GPathogenic
Select item 563976	GRCh37/hg19 12p13.32-13.31(chr12:4305058-6066141)x1	GALNT8, NTF3 +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 443085	GRCh37/hg19 12p13.32(chr12:4118255-4748658)x3	AKAP3, CCND2 +6 more	Copy number gain	See cases	GUncertain significance
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 442073	GRCh37/hg19 12p13.33-13.32(chr12:3256714-4980727)x1	AKAP3, CCND2 +13 more	Copy number loss	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441823	GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	A2M, A2ML1 +166 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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Items: 88