"NDUFB8-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1532643	NM_005004.4(NDUFB8):c.513C>T (p.Gly171=)	NDUFB8	Single nucleotide variant (3 prime UTR variant +1 more)	NDUFB8-related disorder +1 more	GBenign
Select item 3048758	NM_005004.4(NDUFB8):c.469-222_469-220del	NDUFB8	Deletion (intron variant)	NDUFB8-related disorder	GLikely benign
Select item 1559174	NM_005004.4(NDUFB8):c.445G>A (p.Val149Met)	NDUFB8 (V118M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2069291	NM_005004.4(NDUFB8):c.368C>G (p.Pro123Arg)	NDUFB8 (P123R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1167556	NM_005004.4(NDUFB8):c.311C>T (p.Pro104Leu)	NDUFB8 (P104L +1 more)	Single nucleotide variant (missense variant)	NDUFB8-related disorder +1 more	GBenign
Select item 2155908	NM_005004.4(NDUFB8):c.309A>G (p.Glu103=)	NDUFB8	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3036656	NM_005004.4(NDUFB8):c.213-11_213-9dup	NDUFB8	Duplication (intron variant)	NDUFB8-related disorder	GLikely benign
Select item 1552382	NM_005004.4(NDUFB8):c.212+8A>G	NDUFB8	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3036133	NM_005004.4(NDUFB8):c.212+3G>A	NDUFB8	Single nucleotide variant (intron variant)	NDUFB8-related disorder	GLikely benign
Select item 1546550	NM_005004.4(NDUFB8):c.33C>A (p.Val11=)	NDUFB8	Single nucleotide variant (synonymous variant +1 more)	NDUFB8-related disorder +1 more	GLikely benign
Select item 1570710	NM_005004.4(NDUFB8):c.21G>C (p.Gly7=)	NDUFB8	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign