17950[HGNC] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	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 154815	GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1	APOLD1, ARHGDIB +238 more	Copy number loss	See cases	GLikely pathogenic
Select item 57166	GRCh38/hg38 12p13.2-13.1(chr12:11771233-13547775)x1	APOLD1, BCL2L14 +121 more	Copy number loss	See cases	GPathogenic
Select item 2665013	GRCh38/hg38 12p13.2-13.1(chr12:12003929-12652405)	DUSP16, LOC124625907 +54 more	Copy number gain	not provided	GUncertain significance
Select item 2317476	NM_058169.6(BORCS5):c.64C>A (p.Pro22Thr)	BORCS5 (P22T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226677	NM_058169.6(BORCS5):c.76A>G (p.Lys26Glu)	BORCS5 (K26E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458247	NM_058169.6(BORCS5):c.134G>A (p.Arg45Gln)	BORCS5 (R26Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347163	NM_058169.6(BORCS5):c.139G>A (p.Val47Ile)	BORCS5 (V47I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 146005	GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)x1	APOLD1, ARHGDIB +137 more	Copy number loss	See cases	GPathogenic
Select item 58986	GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1	APOLD1, ARHGDIB +140 more	Copy number loss	See cases	GPathogenic
Select item 242898	NM_058169.6(BORCS5):c.203-1G>T	BORCS5	Single nucleotide variant (splice acceptor variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 2240997	NM_058169.6(BORCS5):c.236C>A (p.Ala79Asp)	BORCS5 (A31D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134773	NM_058169.6(BORCS5):c.354C>G (p.Ile118Met)	BORCS5 (I70M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134774	NM_058169.6(BORCS5):c.460G>A (p.Ala154Thr)	BORCS5 (A106T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295434	NM_058169.6(BORCS5):c.502C>T (p.Pro168Ser)	BORCS5 (P120S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134775	NM_058169.6(BORCS5):c.533C>A (p.Pro178His)	BORCS5 (P130H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134776	NM_058169.6(BORCS5):c.568C>A (p.Pro190Thr)	BORCS5 (P190T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590635	NM_058169.6(BORCS5):c.572A>G (p.Asp191Gly)	BORCS5 (D143G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399838	NM_058169.6(BORCS5):c.574C>T (p.Arg192Cys)	BORCS5 (R144C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382739	NM_058169.6(BORCS5):c.575G>A (p.Arg192His)	BORCS5 (R192H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2506545	GRCh37/hg19 12p13.2-13.1(chr12:11463270-14019142)	APOLD1, BCL2L14 +19 more	Copy number loss	Intellectual disability	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 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	C12orf60, YBX3 +85 more	Copy number loss	not provided	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 1436741	NC_000012.11:g.(?_11803062)_(15835885_?)dup	APOLD1, ARHGDIB +32 more	Duplication	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 1340617	GRCh37/hg19 12p13.2(chr12:12315219-12520934)x3	BORCS5, LRP6 +1 more	Copy number gain	not provided	GUncertain significance
Select item 815506	GRCh37/hg19 12p13.2(chr12:12315218-12520905)x3	BORCS5, LRP6 +1 more	Copy number gain	not provided	GUncertain significance
Select item 815505	GRCh37/hg19 12p13.2-12.3(chr12:11737824-16780886)x1	APOLD1, ARHGDIB +37 more	Copy number loss	not provided	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	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 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 625596	GRCh37/hg19 12p13.2-13.1(chr12:10336209-13535349)	APOLD1, BCL2L14 +47 more	Copy number loss	Multiple endocrine neoplasia type 4	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 563981	GRCh37/hg19 12p13.2-13.1(chr12:10717428-14032860)x1	APOLD1, BCL2L14 +40 more	Copy number loss	not provided	GPathogenic
Select item 563918	GRCh37/hg19 12p13.2(chr12:12546745-12773521)x3	BORCS5, CREBL2 +1 more	Copy number gain	not provided	GUncertain significance
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	KCNA6, KCNJ8 +273 more	Copy number gain	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 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 395028	GRCh37/hg19 12p13.2(chr12:12482956-12514722)x1	BORCS5, MANSC1	Copy number loss	See cases	GUncertain significance
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
Select item 221389	GRCh37/hg19 12p13.2-13.1(chr12:12419642-13256423)x3	APOLD1, BORCS5 +12 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221369	chr12:10074776-18800953 complex variant	APOLD1, ARHGDIB +79 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 61