ClinVar for Gene (Select 1327) - ClinVar

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

Links from Gene

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3063435	GRCh37/hg19 16q24.1(chr16:85491404-86524881)x3	C16orf74, COX4I1 +6 more	Copy number gain	not specified	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 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 3031208	NM_001861.6(COX4I1):c.243G>A (p.Leu81=)	COX4I1	Single nucleotide variant (synonymous variant)	COX4I1-related disorder	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	ACSF3, ADAD2 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BANP, BCO1 +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 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 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 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 780190	NM_001861.6(COX4I1):c.228T>C (p.Asp76=)	COX4I1 (M1T)	Single nucleotide variant (synonymous variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 16 +2 more	GBenign/Likely benign
Select item 710577	NM_001861.6(COX4I1):c.159G>A (p.Lys53=)	COX4I1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
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	CA7, COG8 +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	KCTD19, KIAA0513 +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	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +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	ABCC6, BCL7C +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	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +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)	C16orf46, C16orf74 +150 more	Translocation	not provided	GLikely pathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
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 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 149753	GRCh38/hg38 16q24.1(chr16:85026633-85843419)x3	C16orf74, CIBAR2 +72 more	Copy number gain	See cases	GLikely benign
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 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
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 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	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 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 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 57422	GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1	LOC130059603, LOC130059604 +227 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 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

Links from Gene

Items: 76