ClinVar for Gene (Select 26290) - ClinVar

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Links from Gene

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2620966	NM_017417.2(GALNT8):c.974A>G (p.Asp325Gly)	GALNT8 (D325G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609596	NM_017417.2(GALNT8):c.1852A>G (p.Ser618Gly)	GALNT8 (S618G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540728	NM_017417.2(GALNT8):c.1370T>C (p.Ile457Thr)	GALNT8 (I457T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527557	NM_017417.2(GALNT8):c.1793G>A (p.Arg598Gln)	GALNT8 (R598Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524686	NM_017417.2(GALNT8):c.1657A>G (p.Ser553Gly)	GALNT8 (S553G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521558	NM_017417.2(GALNT8):c.65A>G (p.Asn22Ser)	GALNT8 (N22S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496452	NM_017417.2(GALNT8):c.1135C>T (p.Leu379Phe)	GALNT8 (L379F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461558	NM_017417.2(GALNT8):c.785G>A (p.Arg262His)	GALNT8 (R262H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	AKAP3, ETFRF1 +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
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, C12orf4 +11 more	Duplication	Episodic ataxia type 1	GUncertain significance
Select item 2409267	NM_017417.2(GALNT8):c.1381G>A (p.Asp461Asn)	GALNT8 (D461N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404822	NM_017417.2(GALNT8):c.988G>A (p.Glu330Lys)	GALNT8 (E330K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400673	NM_017417.2(GALNT8):c.1624T>C (p.Tyr542His)	GALNT8 (Y542H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358468	NM_017417.2(GALNT8):c.726G>C (p.Lys242Asn)	GALNT8 (K242N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353238	NM_017417.2(GALNT8):c.410A>G (p.Gln137Arg)	GALNT8 (Q137R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347453	NM_017417.2(GALNT8):c.564A>G (p.Ile188Met)	GALNT8 (I188M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325131	NM_017417.2(GALNT8):c.781G>T (p.Ala261Ser)	GALNT8 (A261S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306479	NM_017417.2(GALNT8):c.1630G>A (p.Gly544Arg)	GALNT8 (G544R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301968	NM_017417.2(GALNT8):c.1595A>C (p.Asn532Thr)	GALNT8 (N532T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295971	NM_017417.2(GALNT8):c.433C>T (p.Arg145Trp)	GALNT8 (R145W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292651	NM_017417.2(GALNT8):c.212A>G (p.Lys71Arg)	GALNT8 (K71R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283427	NM_017417.2(GALNT8):c.1142A>T (p.Tyr381Phe)	GALNT8 (Y381F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283097	NM_017417.2(GALNT8):c.1780A>G (p.Arg594Gly)	GALNT8 (R594G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256069	NM_017417.2(GALNT8):c.58G>A (p.Ala20Thr)	GALNT8 (A20T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2229132	NM_017417.2(GALNT8):c.1876C>T (p.His626Tyr)	GALNT8 (H626Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2208829	NM_017417.2(GALNT8):c.631C>G (p.Arg211Gly)	GALNT8 (R211G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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	C1R, NINJ2 +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)	TIGAR, AKAP3 +14 more	Copy number loss	Global developmental delay +1 more	GPathogenic
Select item 998926	NC_000012.11:g.(?_4479509)_(6235003_?)dup	AKAP3, ANO2 +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 784228	NM_017417.2(GALNT8):c.700G>A (p.Glu234Lys)	GALNT8 (E234K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776689	NM_017417.2(GALNT8):c.1831G>A (p.Val611Met)	GALNT8 (V611M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776688	NM_017417.2(GALNT8):c.1542C>T (p.Pro514=)	GALNT8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 731114	NM_017417.2(GALNT8):c.1142A>G (p.Tyr381Cys)	GALNT8 (Y381C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 718091	NM_017417.2(GALNT8):c.1594-3T>A	GALNT8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 717255	NM_017417.2(GALNT8):c.1741A>G (p.Ile581Val)	GALNT8 (I581V)	Single nucleotide variant (missense variant)	not provided	GBenign
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 685750	GRCh37/hg19 12p13.32(chr12:4748656-4856696)x3	AKAP3, GALNT8 +1 more	Copy number gain	not provided	GUncertain significance
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 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	A2ML1, A2ML1-AS1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
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 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	A2M, A2ML1 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 442073	GRCh37/hg19 12p13.33-13.32(chr12:3256714-4980727)x1	AKAP3, C12orf4 +13 more	Copy number loss	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +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	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 253862	GRCh37/hg19 12p13.32(chr12:4872405-5347944)x3	GALNT8, KCNA6 +2 more	Copy number gain	See cases	GUncertain significance
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
Select item 221486	GRCh38/hg38 12p13.32-13.31(chr12:4772521-5854093)x1	LOC124625890, LOC126861422 +36 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 155290	GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3	LOC130007148, LOC130007149 +223 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	PRB2, PRB3 +853 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC130007425, LOC130007426 +1257 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007339, LOC130007340 +698 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 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	A2M, A2M-AS1 +1257 more	Copy number gain	See cases	GPathogenic
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 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	WBP11, WNK1 +1242 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	LOC124625919, LOC124625920 +1009 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC130007649, LOC130007650 +1258 more	Copy number gain	See cases	GPathogenic
Select item 58983	GRCh38/hg38 12p13.33-13.32(chr12:2492728-4829842)x1	AKAP3, C12orf4 +91 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 93