C12orf60[gene] - ClinVar

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Items: 76

	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 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 161159	NM_004963.4(GUCY2C):c.2782T>C (p.Cys928Arg)	C12orf60, GUCY2C +1 more (C928R)	Single nucleotide variant (non-coding transcript variant +1 more)	Meconium ileus	GPathogenic
Select item 30176	NM_004963.4(GUCY2C):c.2519G>T (p.Ser840Ile)	C12orf60, GUCY2C (S840I)	Single nucleotide variant (missense variant)	Congenital diarrhea 6	GPathogenic
Select item 931137	NM_004963.4(GUCY2C):c.2324T>C (p.Leu775Pro)	C12orf60, GUCY2C (L775P)	Single nucleotide variant (missense variant)	Congenital diarrhea 6	GPathogenic
Select item 31605	NM_004963.4(GUCY2C):c.2270dup (p.Asn757fs)	C12orf60, GUCY2C (N757fs)	Duplication (frameshift variant)	Meconium ileus	GPathogenic
Select item 379706	NM_004963.4(GUCY2C):c.2086G>T (p.Glu696Ter)	C12orf60, GUCY2C (E696*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 977935	NM_004963.4(GUCY2C):c.1544T>C (p.Leu515Pro)	C12orf60, GUCY2C (L515P)	Single nucleotide variant (missense variant)	Congenital diarrhea 6	GUncertain significance
Select item 1712127	NM_016312.3(WBP11):c.1505C>T (p.Pro502Leu)	WBP11, C12orf60 (P502L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574865	NM_016312.3(WBP11):c.1298G>T (p.Gly433Val)	C12orf60, WBP11 (G433V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576951	NM_016312.3(WBP11):c.1237_1251del (p.Leu413_Pro417del)	C12orf60, WBP11	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2574509	NM_016312.3(WBP11):c.972G>A (p.Met324Ile)	C12orf60, WBP11 (M324I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 917486	NM_016312.3(WBP11):c.612del (p.Gly205fs)	WBP11, C12orf60 (G205fs)	Deletion (frameshift variant)	Vertebral, cardiac, tracheoesophageal, renal, and limb defects +1 more	GLikely pathogenic
Select item 917483	NM_016312.3(WBP11):c.484C>T (p.Gln162Ter)	WBP11, C12orf60 (Q162*)	Single nucleotide variant (nonsense)	WBP11 spliceosomopathy	GPathogenic
Select item 2499866	NM_016312.3(WBP11):c.386A>G (p.Lys129Arg)	C12orf60, WBP11 (K129R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574283	NM_016312.3(WBP11):c.280C>G (p.Arg94Gly)	C12orf60, WBP11 (R94G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 917487	NM_016312.3(WBP11):c.169A>G (p.Met57Val)	WBP11, C12orf60 (M57V)	Single nucleotide variant (missense variant)	WBP11 spliceosomopathy	GUncertain significance
Select item 2500508	NM_016312.3(WBP11):c.99C>G (p.Asn33Lys)	WBP11, C12orf60 (N33K)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2244958	NM_175874.4(C12orf60):c.575A>G (p.Gln192Arg)	C12orf60 (Q192R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216258	NM_175874.4(C12orf60):c.607C>A (p.Pro203Thr)	C12orf60 (P203T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 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

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Items: 76