"GeneDx"[submitter] AND "COA8"[gene] - ClinVar

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

Search results

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 57839	GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1	LOC105378183, LOC112163684 +164 more	Copy number loss	See cases	GPathogenic
Select item 57840	GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1	ADSS1, AKT1 +177 more	Copy number loss	See cases	GPathogenic
Select item 673113	NM_032374.4:c.-177C>A	COA8, LOC130056587	Single nucleotide variant	not provided	GBenign
Select item 1189057	NC_000014.9:g.103562805G>A	COA8, LOC130056587	Single nucleotide variant	not provided	GLikely benign
Select item 1244059	NC_000014.9:g.103562854GCC[3]	COA8, LOC130056587	Microsatellite	not provided	GBenign
Select item 1270467	NC_000014.9:g.103562909G>A	COA8, LOC130056587	Single nucleotide variant	not provided	GBenign
Select item 380166	NM_032374.4:c.-11G>T	COA8	Single nucleotide variant	not specified	GBenign
Select item 1526292	NM_001370595.2(COA8):c.-32C>G	COA8	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1030024	NM_001370595.2(COA8):c.-10dup	COA8	Duplication (5 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 381843	NM_001370595.2(COA8):c.8T>C (p.Val3Ala)	COA8 (V3A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 377320	NM_001370595.2(COA8):c.23A>G (p.Lys8Arg)	COA8 (K8R)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 381449	NM_001370595.2(COA8):c.40C>A (p.Pro14Thr)	COA8 (P14T)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GLikely benign
Select item 379942	NM_001370595.2(COA8):c.40C>G (p.Pro14Ala)	COA8 (P14A)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 17 +2 more	GBenign
Select item 382991	NM_001370595.2(COA8):c.41C>G (p.Pro14Arg)	COA8 (P14R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 2663745	NM_001370595.2(COA8):c.100C>G (p.Arg34Gly)	COA8 (R34G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 725984	NM_001370595.2(COA8):c.104G>A (p.Arg35Lys)	COA8 (R35K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 379943	NM_001370595.2(COA8):c.111G>A (p.Thr37=)	COA8	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1712717	NM_001370595.2(COA8):c.112G>A (p.Ala38Thr)	COA8 (A38T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 514386	NM_001370595.2(COA8):c.123+6C>T	COA8	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 515737	NM_001370595.2(COA8):c.123+10G>A	COA8	Single nucleotide variant (intron variant)	Mitochondrial complex 4 deficiency, nuclear type 17 +2 more	GBenign/Likely benign
Select item 389633	NM_001370595.2(COA8):c.123+12C>T	COA8	Single nucleotide variant (intron variant)	Mitochondrial complex 4 deficiency, nuclear type 17 +1 more	GLikely benign
Select item 1217996	NM_001370595.2(COA8):c.123+60G>A	COA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677059	NM_001370595.2(COA8):c.124-91G>A	COA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 746625	NM_001370595.2(COA8):c.192C>T (p.Asn64=)	COA8	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 511472	NM_001370595.2(COA8):c.216A>C (p.Ile72=)	COA8	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 235497	NM_001370595.2(COA8):c.224A>G (p.Asn75Ser)	COA8 (N75S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1681864	NM_001370595.2(COA8):c.263A>G (p.Gln88Arg)	COA8 (Q88R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1209298	NM_001370595.2(COA8):c.321+42T>C	COA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205484	NM_001370595.2(COA8):c.321+168G>A	COA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683281	NM_001370595.2(COA8):c.321+261T>G	COA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232133	NM_001370595.2(COA8):c.322-30C>A	COA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1328617	NM_001370595.2(COA8):c.322-6_322-4dup	COA8	Duplication (intron variant)	not provided	GLikely benign
Select item 1297795	NM_001370595.2(COA8):c.322-4dup	COA8	Duplication (intron variant)	not provided	GBenign
Select item 1258487	NM_001370595.2(COA8):c.322-5_322-4dup	COA8	Duplication (intron variant)	COA8-related condition +1 more	GBenign
Select item 1251057	NM_001370595.2(COA8):c.322-4del	COA8	Deletion (intron variant)	not provided	GBenign
Select item 1249233	NM_001370595.2(COA8):c.322-6_322-4del	COA8	Deletion (intron variant)	not provided	GBenign
Select item 1243229	NM_001370595.2(COA8):c.322-5_322-4del	COA8	Deletion (intron variant)	not provided	GBenign
Select item 380180	NM_001370595.2(COA8):c.351A>G (p.Leu117=)	COA8	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 17 +3 more	GBenign/Likely benign
Select item 382401	NM_001370595.2(COA8):c.385+11T>G	COA8	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1196353	NM_001370595.2(COA8):c.385+52T>A	COA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676828	NM_001370595.2(COA8):c.385+125A>G	COA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1320792	NM_001370595.2(COA8):c.385+471A>C	COA8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1232865	NM_001370595.2(COA8):c.386-5854C>T	COA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1320889	NM_001370595.2(COA8):c.386-5533G>A	COA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673643	NM_001370595.2(COA8):c.386-203A>G	COA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 385411	NM_001370595.2(COA8):c.386-12A>G	COA8	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2573739	NM_001370595.2(COA8):c.470A>G (p.Tyr157Cys)	COA8 (Y157C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 384236	NM_001370595.2(COA8):c.476+19C>T	COA8	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 676096	NM_001370595.2(COA8):c.476+63C>T	COA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292541	NM_001370595.2(COA8):c.476+161dup	COA8	Duplication (intron variant)	not provided	GBenign
Select item 1187527	NM_001370595.2(COA8):c.476+161del	COA8	Deletion (intron variant)	not provided	GLikely benign
Select item 1238713	NM_001370595.2(COA8):c.476+149T>C	COA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683282	NM_001370595.2(COA8):c.476+162G>C	COA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186168	NM_001370595.2(COA8):c.476+283A>G	COA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673030	NM_001370595.2(COA8):c.476+286G>C	COA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201443	NM_001370595.2(COA8):c.477-318G>A	COA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669766	NM_001370595.2(COA8):c.477-283A>C	COA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207010	NM_001370595.2(COA8):c.477-56C>T	COA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206974	NM_001370595.2(COA8):c.*122C>T	COA8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1174175	NM_001370595.2(COA8):c.*123C>G	COA8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1276374	NM_001370595.2(COA8):c.*339T>C	COA8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign

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: 63