COX4I1[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	LOC126862439, LOC126862440 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	ACSF3, ADAD2 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC130059708, LOC130059709 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	ADAD2, ARLNC1 +447 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	ACSF3, ADAD2 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	ACSF3, ADAD2 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	ACSF3, ADAD2 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +670 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 147286	GRCh38/hg38 16q23.3-24.1(chr16:83687650-86073240)x1	ADAD2, CIBAR2 +203 more	Copy number loss	See cases	GPathogenic
Select item 57422	GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1	LOC130059603, LOC130059604 +227 more	Copy number loss	See cases	GPathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 149753	GRCh38/hg38 16q24.1(chr16:85026633-85843419)x3	C16orf74, CIBAR2 +72 more	Copy number gain	See cases	GLikely benign
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 58269	GRCh38/hg38 16q24.1(chr16:85568964-85843360)x1	C16orf74, COX4I1 +30 more	Copy number loss	See cases	GUncertain significance
Select item 3060855	NM_001861.6(COX4I1):c.7G>A (p.Ala3Thr)	COX4I1 (A3T)	Single nucleotide variant (missense variant +1 more)	COX4I1-related disorder	GBenign
Select item 2328081	NM_001861.6(COX4I1):c.25C>G (p.Leu9Val)	COX4I1 (L9V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076461	NM_001861.6(COX4I1):c.43A>G (p.Ile15Val)	COX4I1 (I15V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462024	NM_001861.6(COX4I1):c.65G>A (p.Arg22Gln)	COX4I1 (R22Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2646944	NM_001861.6(COX4I1):c.122G>A (p.Arg41Gln)	COX4I1 (R3Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2516337	NM_001861.6(COX4I1):c.124C>T (p.Arg42Cys)	COX4I1 (R4C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269959	NM_001861.6(COX4I1):c.140C>T (p.Pro47Leu)	COX4I1 (P9L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 710577	NM_001861.6(COX4I1):c.159G>A (p.Lys53=)	COX4I1	Single nucleotide variant (synonymous variant +1 more)	COX4I1-related disorder +1 more	GBenign
Select item 2494346	NM_001861.6(COX4I1):c.178A>G (p.Lys60Glu)	COX4I1 (K22E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780190	NM_001861.6(COX4I1):c.228T>C (p.Asp76=)	COX4I1 (M1T)	Single nucleotide variant (synonymous variant +2 more)	COX4I1-related disorder +2 more	GBenign/Likely benign
Select item 2603636	NM_001861.6(COX4I1):c.231G>C (p.Glu77Asp)	COX4I1 (R2T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646945	NM_001861.6(COX4I1):c.240G>C (p.Glu80Asp)	COX4I1 (E42D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3031208	NM_001861.6(COX4I1):c.243G>A (p.Leu81=)	COX4I1	Single nucleotide variant (synonymous variant)	COX4I1-related disorder	GLikely benign
Select item 834062	NM_001861.6(COX4I1):c.303_304delinsTT (p.Lys101_Thr102delinsAsnSer)	COX4I1	Indel (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1	GPathogenic
Select item 2344295	NM_001861.6(COX4I1):c.379G>A (p.Gly127Ser)	COX4I1 (G127S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2480894	NM_001861.6(COX4I1):c.428A>G (p.Lys143Arg)	COX4I1 (K105R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3076462	NM_001861.6(COX4I1):c.454C>T (p.Pro152Ser)	COX4I1 (P114S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 834063	NM_001861.6(COX4I1):c.454C>A (p.Pro152Thr)	COX4I1 (P152T +1 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 16	GPathogenic
Select item 2603228	NM_001861.6(COX4I1):c.487G>A (p.Glu163Lys)	COX4I1 (E163K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597961	NM_001861.6(COX4I1):c.496G>A (p.Glu166Lys)	COX4I1 (E128K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3049635	NM_001861.6(COX4I1):c.504G>A (p.Lys168=)	COX4I1 (E80K)	Single nucleotide variant (synonymous variant +2 more)	COX4I1-related disorder	GBenign
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
Select item 3063435	GRCh37/hg19 16q24.1(chr16:85491404-86524881)x3	C16orf74, COX4I1 +6 more	Copy number gain	not specified	GUncertain significance
Select item 2685585	GRCh37/hg19 16q24.1-24.2(chr16:84555718-87910245)x1	C16orf74, C16orf95 +25 more	Copy number loss	not provided	GPathogenic
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	IL17C, ZFHX3 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BCO1, ACSF3 +102 more	Copy number gain	not provided	GPathogenic
Select item 975044	Single allele	ADAD2, DNAAF1 +26 more	Deletion	Alveolar capillary dysplasia with pulmonary venous misalignment	GLikely pathogenic
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815861	GRCh37/hg19 16q24.1(chr16:84815936-86045285)x1	EMC8, CRISPLD2 +8 more	Copy number loss	not provided	GUncertain significance
Select item 813309	GRCh37/hg19 16q24.1-24.2(chr16:84872102-87678641)	ZCCHC14-DT, ZDHHC7 +20 more	Copy number loss	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 687097	GRCh37/hg19 16q24.1(chr16:85038804-85876297)x3	C16orf74, CIBAR2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 686978	GRCh37/hg19 16q24.1(chr16:85746644-85847401)x3	C16orf74, COX4I1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 625611	GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381)	ACSF3, ADAD2 +83 more	Copy number gain	not provided	GPathogenic
Select item 564356	GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3	ACSF3, ADAD2 +103 more	Copy number gain	not provided	GPathogenic
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	AARS1, ABCC11 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	ADCY7, ADGRG1 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443397	GRCh37/hg19 16q24.1-24.2(chr16:85491404-87883528)x1	C16orf74, C16orf95 +18 more	Copy number loss	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442917	GRCh37/hg19 16q24.1-24.3(chr16:84937273-89836905)x4	ACSF3, ANKRD11 +57 more	Copy number gain	See cases	GLikely pathogenic
Select item 442884	GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3	ACSF3, ANKRD11 +59 more	Copy number gain	See cases	GPathogenic
Select item 442313	GRCh37/hg19 16q24.1(chr16:85787339-86138570)x1	COX4I1, EMC8 +1 more	Copy number loss	See cases	GUncertain significance
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 441696	GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3	ACSF3, ADAD2 +87 more	Copy number gain	See cases	GLikely pathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic
Select item 221527	GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	ACSF3, ADAD2 +140 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	SLC7A6, SLC7A6OS +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 219038	GRCh37/hg19 16q23.3-24.1(chr16:83553094-86098013)x1	ADAD2, ATP2C2 +27 more	Copy number loss	See cases	GLikely pathogenic
Select item 218968	t(5;16)(p15.31;q23.1)	ACSF3, ADAD2 +150 more	Translocation	not provided	GLikely pathogenic

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Items: 76