COX6A2[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	AHSP, ARMC5 +136 more	Copy number gain	See cases	GPathogenic
Select item 2556528	NM_005205.4(COX6A2):c.281A>G (p.Tyr94Cys)	COX6A2 (Y94C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327823	NM_005205.4(COX6A2):c.265C>T (p.Pro89Ser)	COX6A2 (P89S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045482	NM_005205.4(COX6A2):c.255C>T (p.Ser85=)	COX6A2	Single nucleotide variant (synonymous variant)	COX6A2-related disorder	GLikely benign
Select item 2284372	NM_005205.4(COX6A2):c.254G>A (p.Ser85Asn)	COX6A2 (S85N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3026920	NM_005205.4(COX6A2):c.241C>G (p.Leu81Val)	COX6A2 (L81V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3076475	NM_005205.4(COX6A2):c.239C>T (p.Thr80Ile)	COX6A2 (T80I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234582	NM_005205.4(COX6A2):c.234C>G (p.Asn78Lys)	COX6A2 (N78K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059761	NM_005205.4(COX6A2):c.219C>T (p.Pro73=)	COX6A2	Single nucleotide variant (synonymous variant)	COX6A2-related disorder	GBenign
Select item 3269054	NM_005205.4(COX6A2):c.178C>T (p.Arg60Cys)	COX6A2 (R60C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076473	NM_005205.4(COX6A2):c.161G>T (p.Arg54Leu)	COX6A2 (R54L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510125	NM_005205.4(COX6A2):c.154G>A (p.Gly52Ser)	COX6A2 (G52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 638272	NM_005205.4(COX6A2):c.127T>C (p.Cys43Arg)	COX6A2 (C43R)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 18	GLikely pathogenic
Select item 638271	NM_005205.4(COX6A2):c.117C>A (p.Ser39Arg)	COX6A2 (S39R)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 18	GLikely pathogenic
Select item 3269053	NM_005205.4(COX6A2):c.79A>T (p.Thr27Ser)	COX6A2 (T27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646480	NM_005205.4(COX6A2):c.34T>G (p.Leu12Val)	COX6A2 (L12V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 979443	GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3	STX4, DCTPP1 +52 more	Copy number gain	not provided	GUncertain significance
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 598742	Single allele	TGFB1I1, TRIM72 +38 more	Deletion	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
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 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395300	GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	AHSP, ALDOA +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221519	GRCh37/hg19 16p11.2(chr16:31154186-31926800)x3	AHSP, ARMC5 +15 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 29