"Ambry Genetics"[submitter] AND "NDUFB2"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3187850	NM_004546.3(NDUFB2):c.61G>C (p.Gly21Arg)	LOC129999506, NDUFB2 +1 more (G21R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3187851	NM_004546.3(NDUFB2):c.62G>A (p.Gly21Asp)	LOC129999506, NDUFB2 +1 more (G21D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2208003	NM_004546.3(NDUFB2):c.70C>T (p.Arg24Trp)	LOC129999506, NDUFB2 +1 more (R24W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2488356	NM_004546.3(NDUFB2):c.84T>G (p.Asp28Glu)	LOC129999506, NDUFB2 +1 more (D28E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554877	NM_004546.3(NDUFB2):c.103G>A (p.Gly35Ser)	NDUFB2 (G35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187840	NM_004546.3(NDUFB2):c.125C>T (p.Pro42Leu)	NDUFB2 (P42L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225334	NM_004546.3(NDUFB2):c.128G>A (p.Arg43Gln)	NDUFB2 (R43Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395122	NM_004546.3(NDUFB2):c.155G>A (p.Arg52Lys)	NDUFB2 (R52K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408599	NM_004546.3(NDUFB2):c.274T>C (p.Trp92Arg)	NDUFB2 (W92R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350940	NM_004546.3(NDUFB2):c.307G>C (p.Asp103His)	NDUFB2 (D103H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187847	NM_004546.3(NDUFB2):c.308A>G (p.Asp103Gly)	NDUFB2 (D103G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance