Related gene-specific medical variations for Gene (Select 4350) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3295676	NM_001015052.3(MPG):c.506G>T (p.Gly169Val)	MPG, NPRL3 (G157V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3251408	NM_001077350.3(NPRL3):c.*1096C>T	MPG, NPRL3 (W226* +2 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 3201829	NM_001015052.3(MPG):c.847G>A (p.Val283Ile)	MPG, NPRL3 (V283I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201791	NM_001015052.3(MPG):c.714G>T (p.Trp238Cys)	MPG, NPRL3 (W238C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201788	NM_001015052.3(MPG):c.697C>A (p.Gln233Lys)	MPG, NPRL3 (Q238K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201785	NM_001015052.3(MPG):c.688G>A (p.Asp230Asn)	MPG, NPRL3 (D218N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201780	NM_001015052.3(MPG):c.586C>G (p.Arg196Gly)	MPG, NPRL3 (R201G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553692	NM_001015052.3(MPG):c.641C>G (p.Ser214Cys)	MPG, NPRL3 (S219C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533028	NM_001015052.3(MPG):c.506G>C (p.Gly169Ala)	MPG, NPRL3 (G157A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507572	NM_001015052.3(MPG):c.613A>G (p.Lys205Glu)	MPG, NPRL3 (K205E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482627	NM_001015052.3(MPG):c.622G>A (p.Glu208Lys)	MPG, NPRL3 (E208K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464870	NM_001015052.3(MPG):c.778G>A (p.Gly260Ser)	MPG, NPRL3 (G260S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408517	NM_001015052.3(MPG):c.838G>A (p.Val280Ile)	MPG, NPRL3 (V268I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2400860	NM_001015052.3(MPG):c.766C>T (p.Arg256Trp)	MPG, NPRL3 (R244W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400630	NM_001015052.3(MPG):c.806C>T (p.Pro269Leu)	MPG, NPRL3 (P257L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375288	NM_001015052.3(MPG):c.812G>A (p.Arg271His)	MPG, NPRL3 (R259H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325128	NM_001015052.3(MPG):c.721C>T (p.Arg241Cys)	MPG, NPRL3 (R241C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319002	NM_001015052.3(MPG):c.764C>T (p.Ala255Val)	MPG, NPRL3 (A243V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251275	NM_001015052.3(MPG):c.598G>A (p.Ala200Thr)	MPG, NPRL3 (A188T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233601	NM_001015052.3(MPG):c.799C>T (p.Arg267Trp)	MPG, NPRL3 (R255W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 20