"PreventionGenetics, part of Exact Sciences"[submitter] AND "NDUFV3"[g - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3045103	NM_021075.4(NDUFV3):c.8C>A (p.Ala3Asp)	NDUFV3 (A3D)	Single nucleotide variant (missense variant)	NDUFV3-related disorder	GLikely benign
Select item 3034982	NM_021075.4(NDUFV3):c.10C>T (p.Pro4Ser)	NDUFV3 (P4S)	Single nucleotide variant (missense variant)	NDUFV3-related disorder	GLikely benign
Select item 781907	NM_021075.4(NDUFV3):c.11C>G (p.Pro4Arg)	NDUFV3 (P4R)	Single nucleotide variant (missense variant)	NDUFV3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3055876	NM_021075.4(NDUFV3):c.48+7G>A	NDUFV3	Single nucleotide variant (intron variant)	NDUFV3-related disorder	GLikely benign
Select item 3046021	NM_021075.4(NDUFV3):c.170-3C>T	NDUFV3	Single nucleotide variant (intron variant)	NDUFV3-related disorder	GLikely benign
Select item 3046290	NM_021075.4(NDUFV3):c.210C>T (p.Thr70=)	NDUFV3	Single nucleotide variant (synonymous variant +1 more)	NDUFV3-related disorder	GLikely benign
Select item 3056561	NM_021075.4(NDUFV3):c.339G>A (p.Pro113=)	NDUFV3	Single nucleotide variant (synonymous variant +1 more)	NDUFV3-related disorder	GBenign
Select item 3048046	NM_021075.4(NDUFV3):c.474C>T (p.Ser158=)	NDUFV3	Single nucleotide variant (synonymous variant +1 more)	NDUFV3-related disorder	GLikely benign
Select item 3059190	NM_021075.4(NDUFV3):c.598C>T (p.Arg200Ter)	NDUFV3 (R200*)	Single nucleotide variant (nonsense +1 more)	NDUFV3-related disorder	GBenign
Select item 3050966	NM_021075.4(NDUFV3):c.648G>A (p.Val216=)	NDUFV3	Single nucleotide variant (synonymous variant +1 more)	NDUFV3-related disorder	GLikely benign
Select item 3051500	NM_021075.4(NDUFV3):c.903G>A (p.Ala301=)	NDUFV3	Single nucleotide variant (synonymous variant +1 more)	NDUFV3-related disorder	GLikely benign
Select item 3051083	NM_021075.4(NDUFV3):c.1209G>A (p.Glu403=)	NDUFV3	Single nucleotide variant (synonymous variant +1 more)	NDUFV3-related disorder	GLikely benign
Select item 3045771	NM_021075.4(NDUFV3):c.1218C>T (p.Ala406=)	NDUFV3	Single nucleotide variant (synonymous variant +1 more)	NDUFV3-related disorder	GLikely benign
Select item 3034910	NM_021075.4(NDUFV3):c.*3G>A	NDUFV3	Single nucleotide variant (3 prime UTR variant)	NDUFV3-related disorder	GLikely benign
Select item 3034947	NM_021075.4(NDUFV3):c.*4C>G	NDUFV3	Single nucleotide variant (3 prime UTR variant)	NDUFV3-related disorder	GLikely benign