25268[HGNC] - ClinVar

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Items: 78

	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 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 2545507	NM_030817.3(APOLD1):c.14G>A (p.Arg5Lys)	APOLD1 (R5K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233188	NM_030817.3(APOLD1):c.28G>A (p.Glu10Lys)	APOLD1 (E41K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345649	NM_030817.3(APOLD1):c.38G>T (p.Gly13Val)	APOLD1 (G13V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376354	NM_030817.3(APOLD1):c.52C>T (p.Arg18Trp)	APOLD1, LOC130007467 (R18W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605046	NM_030817.3(APOLD1):c.67C>G (p.Leu23Val)	APOLD1, LOC130007467 (L23V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468816	NM_030817.3(APOLD1):c.70C>A (p.Leu24Met)	APOLD1, LOC130007467 (L24M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615494	NM_030817.3(APOLD1):c.74T>C (p.Leu25Pro)	APOLD1, LOC130007467 (L25P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613011	NM_030817.3(APOLD1):c.127C>G (p.Arg43Gly)	APOLD1, LOC130007467 (R74G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469312	NM_030817.3(APOLD1):c.128G>C (p.Arg43Pro)	APOLD1, LOC130007467 (R43P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2921298	NM_030817.3(APOLD1):c.145_146delinsTA (p.Arg49Tyr)	APOLD1 (R80Y +1 more)	Indel (missense variant)	Bleeding disorder, vascular-type	GPathogenic
Select item 3128056	NM_030817.3(APOLD1):c.175G>T (p.Gly59Cys)	APOLD1, LOC130007468 (G59C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286471	NM_030817.3(APOLD1):c.175G>C (p.Gly59Arg)	APOLD1, LOC130007468 (G59R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228743	NM_030817.3(APOLD1):c.175G>A (p.Gly59Ser)	APOLD1, LOC130007468 (G59S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128057	NM_030817.3(APOLD1):c.182C>T (p.Ser61Leu)	APOLD1, LOC130007468 (S61L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128058	NM_030817.3(APOLD1):c.189C>A (p.Ser63Arg)	APOLD1, LOC130007468 (S63R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381694	NM_030817.3(APOLD1):c.214G>A (p.Val72Met)	APOLD1, LOC130007468 (V72M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308713	NM_030817.3(APOLD1):c.376A>G (p.Thr126Ala)	APOLD1 (T157A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535263	NM_030817.3(APOLD1):c.395G>T (p.Arg132Leu)	APOLD1 (R163L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128059	NM_030817.3(APOLD1):c.443G>A (p.Gly148Glu)	APOLD1 (G148E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222307	NM_030817.3(APOLD1):c.448C>A (p.Arg150Ser)	APOLD1 (R181S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211951	NM_030817.3(APOLD1):c.449G>T (p.Arg150Leu)	APOLD1 (R150L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300456	NM_030817.3(APOLD1):c.453G>T (p.Gln151His)	APOLD1 (Q182H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357027	NM_030817.3(APOLD1):c.476C>T (p.Ala159Val)	APOLD1 (A159V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485686	NM_030817.3(APOLD1):c.571A>C (p.Ser191Arg)	APOLD1 (S191R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304184	NM_030817.3(APOLD1):c.619G>A (p.Glu207Lys)	APOLD1 (E207K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254312	NM_030817.3(APOLD1):c.631G>A (p.Gly211Arg)	APOLD1 (G211R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128060	NM_030817.3(APOLD1):c.646C>T (p.Leu216Phe)	APOLD1 (L216F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520564	NM_030817.3(APOLD1):c.675G>C (p.Gln225His)	APOLD1 (Q225H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519821	NM_030817.3(APOLD1):c.704A>T (p.Asp235Val)	APOLD1 (D235V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308724	NM_030817.3(APOLD1):c.730G>A (p.Ala244Thr)	APOLD1 (A244T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480797	NM_030817.3(APOLD1):c.741T>A (p.Phe247Leu)	APOLD1 (F247L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480799	NM_030817.3(APOLD1):c.742T>G (p.Phe248Val)	APOLD1 (F279V +1 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	PTPRO, PYROXD1 +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 831584	NC_000012.12:g.(?_12717002)_(13982130_?)del	APOLD1, CDKN1B +8 more	Deletion	Developmental and epileptic encephalopathy, 27 +1 more	GPathogenic
Select item 831573	NC_000012.12:g.(?_12717002)_(13982130_?)dup	APOLD1, CDKN1B +8 more	Duplication	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 815507	GRCh37/hg19 12p13.1(chr12:12908649-12978616)x1	DDX47, APOLD1	Copy number loss	not provided	GLikely benign
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 688830	GRCh37/hg19 12p13.1(chr12:12929249-13022464)x3	APOLD1, DDX47	Copy number gain	not provided	GUncertain significance
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 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 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: 78