Related gene-specific medical variations for Gene (Select 1349) - ClinVar - NCBI

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Items: 4

	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	GUncertain significance
Select item 510669	NM_001866.3(COX7B):c.-42A>G	COX7B, LOC130068461	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 449642	NM_001866.3(COX7B):c.40+5G>C	COX7B, LOC130068461	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 423717	NM_001866.3(COX7B):c.7C>G (p.Pro3Ala)	LOC130068461, COX7B (P3A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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