"Ambry Genetics"[submitter] AND "NRP2"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2554640	NM_003872.3(NRP2):c.41A>G (p.Tyr14Cys)	NRP2 (Y14C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469953	NM_003872.3(NRP2):c.41A>T (p.Tyr14Phe)	NRP2 (Y14F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381496	NM_003872.3(NRP2):c.55C>G (p.Gln19Glu)	NRP2 (Q19E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2271653	NM_003872.3(NRP2):c.187G>A (p.Glu63Lys)	NRP2 (E63K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599324	NM_003872.3(NRP2):c.191C>T (p.Pro64Leu)	NRP2 (P64L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484029	NM_003872.3(NRP2):c.304G>A (p.Gly102Ser)	NRP2 (G102S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519412	NM_003872.3(NRP2):c.418G>C (p.Glu140Gln)	NRP2 (E140Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212347	NM_003872.3(NRP2):c.554T>A (p.Met185Lys)	NRP2 (M185K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361953	NM_003872.3(NRP2):c.904G>A (p.Gly302Arg)	NRP2 (G302R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402877	NM_003872.3(NRP2):c.905G>A (p.Gly302Glu)	NRP2 (G302E)	Single nucleotide variant (missense variant)	NRP2-related condition +1 more	GUncertain significance
Select item 2255448	NM_003872.3(NRP2):c.914C>A (p.Thr305Asn)	NRP2 (T305N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329024	NM_003872.3(NRP2):c.1199C>G (p.Ala400Gly)	NRP2 (A400G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311237	NM_003872.3(NRP2):c.1409G>C (p.Ser470Thr)	NRP2 (S470T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539789	NM_003872.3(NRP2):c.1411C>A (p.Arg471Ser)	NRP2 (R471S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329686	NM_003872.3(NRP2):c.1411C>G (p.Arg471Gly)	NRP2 (R471G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621754	NM_003872.3(NRP2):c.1468G>C (p.Val490Leu)	NRP2 (V490L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556177	NM_003872.3(NRP2):c.1565G>A (p.Arg522His)	NRP2 (R522H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277167	NM_003872.3(NRP2):c.1609T>C (p.Tyr537His)	NRP2 (Y537H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345998	NM_003872.3(NRP2):c.1799C>T (p.Thr600Met)	NRP2 (T600M)	Single nucleotide variant (missense variant)	NRP2-related condition +1 more	GUncertain significance
Select item 2612371	NM_003872.3(NRP2):c.1808C>G (p.Thr603Arg)	NRP2 (T603R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488862	NM_003872.3(NRP2):c.1830C>G (p.Ser610Arg)	NRP2 (S610R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477533	NM_003872.3(NRP2):c.2026A>C (p.Asn676His)	LOC126806481, NRP2 (N676H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343456	NM_003872.3(NRP2):c.2090G>A (p.Gly697Asp)	NRP2 (G697D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521105	NM_003872.3(NRP2):c.2118del (p.Val707fs)	NRP2 (V707fs)	Deletion (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2216063	NM_003872.3(NRP2):c.2131C>G (p.Arg711Gly)	NRP2 (R711G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486242	NM_003872.3(NRP2):c.2254G>A (p.Gly752Ser)	NRP2 (G752S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2599325	NM_003872.3(NRP2):c.2285C>A (p.Pro762His)	NRP2 (P762H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213728	NM_003872.3(NRP2):c.2356A>G (p.Ile786Val)	NRP2 (I786V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490967	NM_003872.3(NRP2):c.2425+7A>C	NRP2 (N811T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 29