"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "COX7B"[ - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2881696	NM_001866.3(COX7B):c.21C>A (p.Ser7Arg)	COX7B, LOC130068461 (S7R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1169374	NM_001866.3(COX7B):c.41-14C>T	COX7B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1651582	NM_001866.3(COX7B):c.41-13G>A	COX7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2176994	NM_001866.3(COX7B):c.41-5G>A	COX7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 381408	NM_001866.3(COX7B):c.48C>A (p.Ser16Arg)	COX7B (S16R)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2996260	NM_001866.3(COX7B):c.74G>A (p.Ser25Asn)	COX7B (S25N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1029387	NM_001866.3(COX7B):c.86G>A (p.Arg29His)	COX7B (R29H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2660959	NM_001866.3(COX7B):c.107A>G (p.Lys36Arg)	COX7B (K36R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2764680	NM_001866.3(COX7B):c.140C>T (p.Thr47Ile)	COX7B (T47I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2704007	NM_001866.3(COX7B):c.160A>G (p.Thr54Ala)	COX7B (T54A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 386711	NM_001866.3(COX7B):c.165+10A>G	COX7B	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2969110	NM_001866.3(COX7B):c.165+13G>A	COX7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971573	NM_001866.3(COX7B):c.169G>T (p.Ala57Ser)	COX7B (A57S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880995	NM_001866.3(COX7B):c.180C>T (p.Val60=)	COX7B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 762251	NM_001866.3(COX7B):c.201C>T (p.Ser67=)	COX7B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2762405	NM_001866.3(COX7B):c.235A>G (p.Asn79Asp)	COX7B (N79D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244761	NC_000023.10:g.(?_76829695)_(77381327_?)dup	ATP7A, ATRX +4 more	Duplication	Menkes kinky-hair syndrome +2 more	GUncertain significance
Select item 3244508	NC_000023.10:g.(?_76890065)_(77302067_?)dup	ATP7A, ATRX +3 more	Duplication	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 3244497	NC_000023.10:g.(?_76907584)_(77381327_?)dup	ATP7A, ATRX +4 more	Duplication	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 3244475	NC_000023.10:g.(?_76972588)_(77302067_?)del	ATP7A, ATRX +3 more	Deletion	Alpha thalassemia-X-linked intellectual disability syndrome +3 more	GPathogenic
Select item 2427018	NC_000023.10:g.(?_77084697)_(77268629_?)del	ATP7A, COX7B +2 more	Deletion	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GPathogenic
Select item 2427017	NC_000023.10:g.(?_76763829)_(77381327_?)dup	ATP7A, ATRX +4 more	Duplication	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 2422244	NC_000023.10:g.(?_76888675)_(77264780_?)dup	ATP7A, ATRX +3 more	Duplication	Menkes kinky-hair syndrome +3 more	GUncertain significance
Select item 2422243	NC_000023.10:g.(?_77150786)_(77289339_?)dup	ATP7A, COX7B +2 more	Duplication	X-linked distal spinal muscular atrophy type 3 +2 more	GUncertain significance
Select item 1514256	NC_000023.10:g.(?_77112834)_(77381327_?)dup	ATP7A, COX7B +3 more	Duplication	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 1373983	NC_000023.10:g.(?_77150786)_(77160758_?)dup	COX7B, MAGT1	Duplication	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance
Select item 832502	NC_000023.10:g.(?_77084697)_(77264780_?)dup	ATP7A, COX7B +2 more	Duplication	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	GUncertain significance

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Items: 27