UQCC1[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 152501	GRCh38/hg38 20q11.22(chr20:35051855-35438457)x1	EDEM2, EIF6 +29 more	Copy number loss	See cases	GLikely pathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 152798	GRCh38/hg38 20q11.22(chr20:35285724-35744837)x1	C20orf173, CEP250 +35 more	Copy number loss	See cases	GPathogenic
Select item 2238182	NM_018244.5(UQCC1):c.889G>C (p.Glu297Gln)	UQCC1 (E229Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320123	NM_018244.5(UQCC1):c.846T>G (p.Asn282Lys)	UQCC1 (N282K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336561	NM_018244.5(UQCC1):c.830C>A (p.Pro277His)	UQCC1 (P251H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186853	NM_018244.5(UQCC1):c.785T>G (p.Met262Arg)	UQCC1 (M236R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327345	NM_018244.5(UQCC1):c.784A>C (p.Met262Leu)	UQCC1 (M194L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186852	NM_018244.5(UQCC1):c.779A>G (p.Asp260Gly)	UQCC1 (D260G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186851	NM_018244.5(UQCC1):c.730C>T (p.His244Tyr)	UQCC1 (H218Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615659	NM_018244.5(UQCC1):c.707A>G (p.Asn236Ser)	UQCC1 (N168S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492002	NM_018244.5(UQCC1):c.674G>C (p.Gly225Ala)	UQCC1 (G157A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242394	NM_018244.5(UQCC1):c.674G>A (p.Gly225Glu)	UQCC1 (G157E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546732	NM_018244.5(UQCC1):c.631G>A (p.Ala211Thr)	UQCC1 (A211T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358521	NM_018244.5(UQCC1):c.628G>T (p.Ala210Ser)	UQCC1 (A142S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210757	NM_018244.5(UQCC1):c.593A>G (p.Lys198Arg)	UQCC1 (K198R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369140	NM_018244.5(UQCC1):c.590T>A (p.Leu197Gln)	UQCC1 (L129Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357389	NM_018244.5(UQCC1):c.551A>G (p.Gln184Arg)	UQCC1 (Q116R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347444	NM_018244.5(UQCC1):c.496C>T (p.Arg166Trp)	UQCC1 (R166W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539872	NM_018244.5(UQCC1):c.292G>A (p.Glu98Lys)	UQCC1 (E98K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405248	NM_018244.5(UQCC1):c.224A>T (p.Lys75Met)	UQCC1 (K75M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1245347	NM_018244.5(UQCC1):c.152G>A (p.Arg51Gln)	UQCC1 (R51Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2524581	NM_018244.5(UQCC1):c.109G>T (p.Ala37Ser)	UQCC1 (A37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254627	NM_018244.5(UQCC1):c.13G>T (p.Val5Leu)	UQCC1 (V5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186850	NM_018244.5(UQCC1):c.5C>A (p.Ala2Glu)	UQCC1 (A2E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248260	NC_000020.10:g.(?_31368130)_(34287210_?)del	ACSS2, ACTL10 +51 more	Deletion	Glutathione synthetase deficiency with 5-oxoprolinuria	GPathogenic
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 1457888	NC_000020.10:g.(?_31189994)_(34287210_?)del	ACSS2, ACTL10 +53 more	Deletion	not provided	GPathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic

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Items: 37