"Ambry Genetics"[submitter] AND "NIPAL2"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2400899	NM_001321635.2(NIPAL2):c.893A>G (p.Tyr298Cys)	NIPAL2 (Y298C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607177	NM_001321635.2(NIPAL2):c.793T>C (p.Phe265Leu)	NIPAL2 (F265L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200152	NM_001321635.2(NIPAL2):c.753G>A (p.Met251Ile)	NIPAL2 (M251I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490882	NM_001321635.2(NIPAL2):c.696G>T (p.Met232Ile)	NIPAL2 (M232I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200151	NM_001321635.2(NIPAL2):c.685G>A (p.Val229Ile)	NIPAL2 (V229I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394599	NM_001321635.2(NIPAL2):c.616A>G (p.Lys206Glu)	NIPAL2 (K206E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200150	NM_001321635.2(NIPAL2):c.583A>G (p.Ile195Val)	NIPAL2 (I195V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355093	NM_001321635.2(NIPAL2):c.349G>A (p.Ala117Thr)	NIPAL2 (A117T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481437	NM_001321635.2(NIPAL2):c.302A>G (p.Glu101Gly)	NIPAL2 (E101G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349994	NM_001321635.2(NIPAL2):c.275G>A (p.Gly92Asp)	NIPAL2 (G92D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528780	NM_001321635.2(NIPAL2):c.233A>G (p.Gln78Arg)	NIPAL2 (Q78R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200149	NM_001321635.2(NIPAL2):c.174C>G (p.Asn58Lys)	NIPAL2 (N58K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289935	NM_001321635.2(NIPAL2):c.124C>A (p.Arg42Ser)	LOC130000812, NIPAL2 (R42S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236523	NM_001321635.2(NIPAL2):c.101G>A (p.Gly34Asp)	LOC130000812, NIPAL2 (G34D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance