ClinVar for Gene (Select 440087) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320911	NM_001013698.2(SMCO3):c.608A>C (p.Lys203Thr)	C12orf60, SMCO3 (K203T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166444	NM_001013698.2(SMCO3):c.658G>C (p.Val220Leu)	C12orf60, SMCO3 (V220L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166443	NM_001013698.2(SMCO3):c.655A>G (p.Thr219Ala)	C12orf60, SMCO3 (T219A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166442	NM_001013698.2(SMCO3):c.608A>G (p.Lys203Arg)	C12orf60, SMCO3 (K203R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166441	NM_001013698.2(SMCO3):c.563T>C (p.Leu188Pro)	C12orf60, SMCO3 (L188P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166440	NM_001013698.2(SMCO3):c.533C>T (p.Ala178Val)	C12orf60, SMCO3 (A178V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166439	NM_001013698.2(SMCO3):c.383C>G (p.Ala128Gly)	C12orf60, SMCO3 (A128G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166438	NM_001013698.2(SMCO3):c.370G>A (p.Ala124Thr)	C12orf60, SMCO3 (A124T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166437	NM_001013698.2(SMCO3):c.25C>T (p.Pro9Ser)	C12orf60, SMCO3 (P9S)	Single nucleotide variant (missense variant +1 more)	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 2610429	NM_001013698.2(SMCO3):c.10A>G (p.Ser4Gly)	C12orf60, SMCO3 (S4G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527063	NM_001013698.2(SMCO3):c.243G>C (p.Gln81His)	C12orf60, SMCO3 (Q81H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517180	NM_001013698.2(SMCO3):c.529C>T (p.Arg177Cys)	C12orf60, SMCO3 (R177C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2377075	NM_001013698.2(SMCO3):c.206T>C (p.Ile69Thr)	C12orf60, SMCO3 (I69T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336056	NM_001013698.2(SMCO3):c.505G>C (p.Gly169Arg)	C12orf60, SMCO3 (G169R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323563	NM_001013698.2(SMCO3):c.62T>C (p.Leu21Pro)	C12orf60, SMCO3 (L21P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316117	NM_001013698.2(SMCO3):c.422C>A (p.Thr141Lys)	C12orf60, SMCO3 (T141K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284355	NM_001013698.2(SMCO3):c.591G>T (p.Lys197Asn)	C12orf60, SMCO3 (K197N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233263	NM_001013698.2(SMCO3):c.335T>A (p.Ile112Lys)	C12orf60, SMCO3 (I112K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225178	NM_001013698.2(SMCO3):c.351T>G (p.Ile117Met)	C12orf60, SMCO3 (I117M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204052	NM_001013698.2(SMCO3):c.100G>A (p.Asp34Asn)	C12orf60, SMCO3 (D34N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 1440295	NC_000012.11:g.(?_14849146)_(15669910_?)dup	RERG, SMCO3 +11 more	Duplication	not provided	GUncertain significance
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 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 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 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 221369	chr12:10074776-18800953 complex variant	APOLD1, ARHGDIB +79 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
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 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 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 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 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 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 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 146005	GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)x1	APOLD1, ARHGDIB +137 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 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 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 58986	GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1	APOLD1, ARHGDIB +140 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 58