UQCC1[gene] - ClinVar

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

Search results

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +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 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)	DZANK1, E2F1 +540 more	Copy number gain	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

Search results

Items: 36