"Ambry Genetics"[submitter] AND "NMNAT3"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2248172	NM_001401600.1(NMNAT3):c.608C>T (p.Thr203Ile)	COPB2-DT, NMNAT3 (T114I +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3200831	NM_001401600.1(NMNAT3):c.476A>G (p.Lys159Arg)	COPB2-DT, NMNAT3 (K122R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2464762	NM_001401600.1(NMNAT3):c.452C>T (p.Ala151Val)	COPB2-DT, NMNAT3 (A114V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3200830	NM_001401600.1(NMNAT3):c.410A>G (p.Asp137Gly)	COPB2-DT, NMNAT3 (D231G +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2602351	NM_001401600.1(NMNAT3):c.409G>A (p.Asp137Asn)	COPB2-DT, NMNAT3 (D137N +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2280265	NM_001401600.1(NMNAT3):c.306C>A (p.Ser102Arg)	COPB2-DT, NMNAT3 (S102R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3200829	NM_001401600.1(NMNAT3):c.278C>G (p.Thr93Arg)	COPB2-DT, NMNAT3 (T56R +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2258370	NM_001401600.1(NMNAT3):c.271A>G (p.Met91Val)	COPB2-DT, NMNAT3 (M185V +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2206306	NM_001401600.1(NMNAT3):c.259C>A (p.Gln87Lys)	COPB2-DT, NMNAT3 (Q87K +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3200828	NM_001401600.1(NMNAT3):c.236G>A (p.Arg79Gln)	COPB2-DT, NMNAT3 (R173Q +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3200832	NM_001401600.1(NMNAT3):c.196G>A (p.Ala66Thr)	COPB2-DT, NMNAT3 (A160T +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2520376	NM_001401600.1(NMNAT3):c.191G>A (p.Arg64Gln)	COPB2-DT, NMNAT3 (R64Q +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2461979	NM_001401600.1(NMNAT3):c.175G>A (p.Ala59Thr)	COPB2-DT, NMNAT3 (A59T +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance