"Ambry Genetics"[submitter] AND "NPR2"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1986963	NM_003995.4(NPR2):c.170G>C (p.Gly57Ala)	NPR2 (G57A)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GUncertain significance
Select item 2569415	NM_003995.4(NPR2):c.464C>T (p.Thr155Ile)	NPR2 (T155I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2078408	NM_003995.4(NPR2):c.482A>G (p.Asn161Ser)	NPR2 (N161S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2165967	NM_003995.4(NPR2):c.493C>T (p.Arg165Cys)	NPR2 (R165C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3201765	NM_003995.4(NPR2):c.578G>A (p.Gly193Asp)	NPR2 (G193D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3300843	NM_003995.4(NPR2):c.625G>A (p.Gly209Ser)	NPR2 (G209S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521506	NM_003995.4(NPR2):c.668-1G>C	NPR2	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 366781	NM_003995.4(NPR2):c.725G>A (p.Arg242Lys)	NPR2 (R242K)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GUncertain significance
Select item 521609	NM_003995.4(NPR2):c.830A>G (p.Asn277Ser)	NPR2 (N277S)	Single nucleotide variant (missense variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +3 more	GUncertain significance
Select item 1436790	NM_003995.4(NPR2):c.1070C>T (p.Thr357Ile)	NPR2 (T357I)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GUncertain significance
Select item 3201760	NM_003995.4(NPR2):c.1313C>G (p.Pro438Arg)	NPR2 (P438R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 843685	NM_003995.4(NPR2):c.1313C>T (p.Pro438Leu)	NPR2 (P438L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3201761	NM_003995.4(NPR2):c.1372A>G (p.Ile458Val)	NPR2 (I458V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481593	NM_003995.4(NPR2):c.1423T>G (p.Phe475Val)	NPR2 (F475V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476980	NM_003995.4(NPR2):c.1562G>A (p.Gly521Glu)	NPR2 (G524E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201762	NM_003995.4(NPR2):c.1615A>G (p.Asn539Asp)	NPR2 (N539D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376066	NM_003995.4(NPR2):c.1655A>G (p.His552Arg)	NPR2 (H555R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201763	NM_003995.4(NPR2):c.1739C>A (p.Thr580Asn)	NPR2 (T580N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541796	NM_003995.4(NPR2):c.2032C>T (p.His678Tyr)	NPR2 (H678Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618361	NM_003995.4(NPR2):c.2062G>T (p.Ala688Ser)	NPR2 (A688S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201764	NM_003995.4(NPR2):c.2072T>A (p.Leu691Gln)	NPR2 (L691Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 639899	NM_003995.4(NPR2):c.2260C>T (p.Arg754Trp)	NPR2 (R754W +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GUncertain significance
Select item 1044739	NM_003995.4(NPR2):c.2429A>G (p.Asn810Ser)	NPR2 (N813S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2062536	NM_003995.4(NPR2):c.2543G>A (p.Arg848Gln)	NPR2 (R848Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2333667	NM_172312.2(SPAG8):c.1442A>G (p.Asn481Ser)	NPR2, SPAG8 (N481S)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3321802	NM_172312.2(SPAG8):c.1417C>T (p.Pro473Ser)	NPR2, SPAG8 (P473S)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2237613	NM_172312.2(SPAG8):c.1413A>T (p.Glu471Asp)	NPR2, SPAG8 (E471D)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3168092	NM_172312.2(SPAG8):c.1385A>G (p.Tyr462Cys)	NPR2, SPAG8 (Y462C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 914491	NM_003995.4(NPR2):c.2840G>A (p.Arg947His)	NPR2, SPAG8 (R947H +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GUncertain significance
Select item 2312682	NM_003995.4(NPR2):c.2918A>G (p.Lys973Arg)	NPR2, SPAG8 (K976R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243799	NM_003995.4(NPR2):c.3011C>T (p.Thr1004Ile)	NPR2, SPAG8 (T1004I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1034725	NM_003995.4(NPR2):c.3119G>A (p.Arg1040Gln)	NPR2, SPAG8 (R1040Q +1 more)	Single nucleotide variant (synonymous variant +2 more)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GConflicting classifications of pathogenicity

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Items: 32