SQOR[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2466603	NM_021199.4(SQOR):c.83G>A (p.Gly28Asp)	SQOR (G28D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169792	NM_021199.4(SQOR):c.164G>T (p.Gly55Val)	SQOR (G55V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169793	NM_021199.4(SQOR):c.181C>T (p.Arg61Cys)	SQOR (R61C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507497	NM_021199.4(SQOR):c.182G>A (p.Arg61His)	SQOR (R61H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169794	NM_021199.4(SQOR):c.221T>C (p.Val74Ala)	SQOR (V74A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469449	NM_021199.4(SQOR):c.236G>A (p.Arg79Lys)	SQOR (R79K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479686	NM_021199.4(SQOR):c.243C>A (p.Phe81Leu)	SQOR (F81L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169795	NM_021199.4(SQOR):c.301C>T (p.Arg101Cys)	SQOR (R101C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169796	NM_021199.4(SQOR):c.397G>A (p.Asp133Asn)	SQOR (D133N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1012235	NM_021199.4(SQOR):c.446del (p.Leu149fs)	SQOR (L149fs)	Deletion (frameshift variant)	Sulfide quinone oxidoreductase deficiency	GPathogenic
Select item 2547509	NM_021199.4(SQOR):c.503C>G (p.Ser168Trp)	SQOR (S168W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481624	NM_021199.4(SQOR):c.626T>C (p.Met209Thr)	SQOR (M209T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1012234	NM_021199.4(SQOR):c.637G>A (p.Glu213Lys)	SQOR (E213K)	Single nucleotide variant (missense variant)	Sulfide quinone oxidoreductase deficiency	GPathogenic
Select item 3169797	NM_021199.4(SQOR):c.712G>A (p.Gly238Arg)	SQOR (G238R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523665	NM_021199.4(SQOR):c.769G>A (p.Val257Ile)	SQOR (V257I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169798	NM_021199.4(SQOR):c.820G>A (p.Val274Ile)	SQOR (V274I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485199	NM_021199.4(SQOR):c.836A>G (p.Asp279Gly)	SQOR (D279G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481340	NM_021199.4(SQOR):c.907G>A (p.Val303Ile)	SQOR (V303I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034734	NM_021199.4(SQOR):c.952G>A (p.Val318Met)	SQOR (V318M)	Single nucleotide variant (missense variant)	SQOR-related disorder	GLikely benign
Select item 3169790	NM_021199.4(SQOR):c.1037C>T (p.Ala346Val)	SQOR (A346V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155099	GRCh38/hg38 15q21.1(chr15:45688142-45911031)x1	LOC105370802, LOC112272591 +1 more	Copy number loss	See cases	GUncertain significance
Select item 2483621	NM_021199.4(SQOR):c.1067T>G (p.Leu356Arg)	SQOR (L356R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493643	NM_021199.4(SQOR):c.1138C>T (p.Pro380Ser)	SQOR (P380S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169791	NM_021199.4(SQOR):c.1210C>T (p.Pro404Ser)	SQOR (P404S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545185	NM_021199.4(SQOR):c.1264A>G (p.Met422Val)	SQOR (M422V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614256	NM_021199.4(SQOR):c.1267C>G (p.Pro423Ala)	SQOR (P423A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063374	GRCh37/hg19 15q21.1(chr15:45817810-45944503)x1	BLOC1S6, SQOR	Copy number loss	not specified	GUncertain significance
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 1526447	GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)	BLOC1S6, C15orf48 +61 more	Copy number loss	not specified	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 253923	GRCh37/hg19 15q15.3-21.1(chr15:44484701-47475522)x1	DUOXA2, SHF +20 more	Copy number loss	See cases	GUncertain significance

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Items: 39