SMCO2[gene] - ClinVar

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Items: 74

	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 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 144376	GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1	ALG10, AMN1 +242 more	Copy number loss	See cases	GPathogenic
Select item 154023	GRCh38/hg38 12p11.23-11.22(chr12:27128969-27636702)x3	BMAL2, BMAL2-AS1 +27 more	Copy number gain	See cases	GUncertain significance
Select item 145487	GRCh38/hg38 12p11.23-11.22(chr12:27153357-27607134)x1	BMAL2, BMAL2-AS1 +27 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 150105	GRCh38/hg38 12p11.23-11.22(chr12:27153387-27607219)x1	BMAL2, BMAL2-AS1 +27 more	Copy number loss	See cases	GUncertain significance
Select item 59014	GRCh38/hg38 12p11.23-11.22(chr12:27161598-27642483)x1	BMAL2, BMAL2-AS1 +27 more	Copy number loss	See cases	GPathogenic
Select item 58209	GRCh38/hg38 12p11.23-11.22(chr12:27192518-27615518)x3	BMAL2, BMAL2-AS1 +25 more	Copy number gain	See cases	GUncertain significance
Select item 146584	GRCh38/hg38 12p11.23(chr12:27225978-27575769)x3	BMAL2, BMAL2-AS1 +18 more	Copy number gain	See cases	GBenign
Select item 2379399	NM_001395208.2(SMCO2):c.28A>G (p.Asn10Asp)	SMCO2 (N10D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2234168	NM_001395208.2(SMCO2):c.50A>G (p.Lys17Arg)	SMCO2 (K17R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166434	NM_001395208.2(SMCO2):c.62A>G (p.Gln21Arg)	SMCO2 (Q21R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351954	NM_001395208.2(SMCO2):c.86A>G (p.Asn29Ser)	SMCO2 (N29S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412318	NM_001395208.2(SMCO2):c.145G>A (p.Glu49Lys)	SMCO2 (E49K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570362	NM_001395208.2(SMCO2):c.395A>G (p.Tyr132Cys)	SMCO2 (Y132C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3320909	NM_001395208.2(SMCO2):c.464T>C (p.Ile155Thr)	SMCO2 (I155T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166432	NM_001395208.2(SMCO2):c.546A>T (p.Gln182His)	SMCO2 (Q182H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214659	NM_001395208.2(SMCO2):c.565C>T (p.Arg189Trp)	SMCO2 (R60W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166433	NM_001395208.2(SMCO2):c.576C>G (p.Asp192Glu)	SMCO2 (D63E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213535	NM_001395208.2(SMCO2):c.587G>A (p.Gly196Glu)	SMCO2 (G196E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378622	NM_001395208.2(SMCO2):c.652C>G (p.Leu218Val)	SMCO2 (L89V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610518	NM_001395208.2(SMCO2):c.721G>A (p.Asp241Asn)	SMCO2 (D112N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2250425	NM_001395208.2(SMCO2):c.724A>G (p.Thr242Ala)	SMCO2 (T242A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468312	NM_001395208.2(SMCO2):c.750A>G (p.Ile250Met)	SMCO2 (I121M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2372061	NM_001395208.2(SMCO2):c.821G>A (p.Arg274His)	SMCO2 (R274H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204103	NM_001395208.2(SMCO2):c.830C>T (p.Ala277Val)	SMCO2 (A277V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2538292	NM_001395208.2(SMCO2):c.856A>G (p.Ile286Val)	SMCO2 (I286V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485238	NM_001395208.2(SMCO2):c.860T>C (p.Met287Thr)	SMCO2 (M158T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214959	NM_001395208.2(SMCO2):c.875C>T (p.Thr292Ile)	SMCO2 (T163I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166435	NM_001395208.2(SMCO2):c.886C>T (p.Leu296Phe)	SMCO2 (L167F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535595	NM_001395208.2(SMCO2):c.886C>G (p.Leu296Val)	SMCO2 (L167V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166436	NM_001395208.2(SMCO2):c.977G>A (p.Arg326Gln)	SMCO2 (R326Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556109	NM_001395208.2(SMCO2):c.986G>A (p.Arg329Lys)	SMCO2 (R329K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166431	NM_001395208.2(SMCO2):c.1009G>A (p.Val337Met)	SMCO2 (V337M +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 2685051	GRCh37/hg19 12p11.23-11.22(chr12:27514172-29338877)x4	BMAL2, CCDC91 +7 more	Copy number gain	not provided	GLikely pathogenic
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 1706507	GRCh37/hg19 12p11.23(chr12:27281902-27796511)x3	SMCO2, STK38L +2 more	Copy number gain	See cases	GUncertain significance
Select item 1527701	GRCh37/hg19 12p11.23(chr12:27281902-27789635)	BMAL2, PPFIBP1 +2 more	Copy number gain	not specified	GUncertain significance
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 1340043	GRCh37/hg19 12p12.1-11.22(chr12:23693737-29545102)x1	BCAT1, BHLHE41 +27 more	Copy number loss	not provided	GPathogenic
Select item 815516	GRCh37/hg19 12p11.23(chr12:27236795-27796425)x1	PPFIBP1, SMCO2 +2 more	Copy number loss	not provided	GLikely benign
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 689124	GRCh37/hg19 12p12.3-11.23(chr12:16141429-27733325)x1	SMCO2, SOX5 +48 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 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 563951	GRCh37/hg19 12p11.23(chr12:27285092-27796511)x1	PPFIBP1, STK38L +2 more	Copy number loss	not provided	GLikely benign
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 443534	GRCh37/hg19 12p11.23(chr12:27293748-27796425)x0	BMAL2, PPFIBP1 +2 more	Copy number loss	See cases	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 443267	GRCh37/hg19 12p11.23(chr12:27285092-27797629)x1	STK38L, BMAL2 +2 more	Copy number loss	See cases	GUncertain significance
Select item 442956	GRCh37/hg19 12p11.23(chr12:27281880-27793755)x3	BMAL2, PPFIBP1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 442465	GRCh37/hg19 12p11.23(chr12:27285092-27797905)x1	BMAL2, PPFIBP1 +2 more	Copy number loss	See cases	GUncertain significance
Select item 442409	GRCh37/hg19 12p11.23(chr12:27285092-27796425)x1	BMAL2, PPFIBP1 +2 more	Copy number loss	See cases	GLikely benign
Select item 442372	GRCh37/hg19 12p11.23(chr12:27282008-27793637)x3	BMAL2, PPFIBP1 +2 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 442352	GRCh37/hg19 12p11.23(chr12:27278040-27789700)x3	BMAL2, PPFIBP1 +2 more	Copy number gain	See cases	GLikely benign
Select item 442254	GRCh37/hg19 12p11.23(chr12:27281902-27793637)x3	BMAL2, PPFIBP1 +2 more	Copy number gain	See cases	GLikely benign
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 393975	GRCh37/hg19 12p11.23(chr12:27306320-27788422)x3	BMAL2, PPFIBP1 +2 more	Copy number gain	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

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Items: 74