NPR2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1280206	NM_003995.4(NPR2):c.-218C>T	NPR2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1546731	NM_003995.4(NPR2):c.7C>T (p.Leu3=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 1632635	NM_003995.4(NPR2):c.9G>A (p.Leu3=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 1980637	NM_003995.4(NPR2):c.11C>T (p.Pro4Leu)	NPR2 (P4L)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 870612	NM_003995.4(NPR2):c.14C>A (p.Ser5Ter)	NPR2 (S5*)	Single nucleotide variant (nonsense)	Acromesomelic dysplasia 1, Maroteaux type	GPathogenic
Select item 366776	NM_003995.4(NPR2):c.18T>C (p.Leu6=)	NPR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1555977	NM_003995.4(NPR2):c.36C>T (p.Ala12=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 1452537	NM_003995.4(NPR2):c.60del (p.Ala22fs)	NPR2 (A22fs)	Deletion (frameshift variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GPathogenic
Select item 2056780	NM_003995.4(NPR2):c.60C>T (p.Pro20=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2928616	NM_003995.4(NPR2):c.63G>A (p.Gly21=)	NPR2	Single nucleotide variant (synonymous variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GLikely benign
Select item 193262	NM_003995.4(NPR2):c.64G>T (p.Ala22Ser)	NPR2 (A22S)	Single nucleotide variant (missense variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1042436	NM_003995.4(NPR2):c.65C>T (p.Ala22Val)	NPR2 (A22V)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 1428049	NM_003995.4(NPR2):c.85G>A (p.Val29Met)	NPR2 (V29M)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 541976	NM_003995.4(NPR2):c.90G>A (p.Val30=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GConflicting classifications of pathogenicity
Select item 17784	NM_003995.4(NPR2):c.94C>A (p.Pro32Thr)	NPR2 (P32T)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type	GPathogenic
Select item 366777	NM_003995.4(NPR2):c.98A>C (p.Glu33Ala)	NPR2 (E33A)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type	GUncertain significance
Select item 1683471	NM_003995.4(NPR2):c.125_126insTGGCG (p.Trp42fs)	NPR2 (W42fs)	Insertion (frameshift variant)	Acromesomelic dysplasia 1, Maroteaux type	GPathogenic
Select item 1409225	NM_003995.4(NPR2):c.127C>G (p.Pro43Ala)	NPR2 (P43A)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 1703769	NM_003995.4(NPR2):c.130C>T (p.Arg44Trp)	NPR2 (R44W)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type	GUncertain significance
Select item 427217	NM_003995.4(NPR2):c.140C>T (p.Pro47Leu)	NPR2 (P47L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1800646	NM_003995.4(NPR2):c.142G>A (p.Ala48Thr)	NPR2 (A48T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224310	NM_003995.4(NPR2):c.154G>A (p.Ala52Thr)	NPR2 (A52T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 947303	NM_003995.4(NPR2):c.155C>A (p.Ala52Asp)	NPR2 (A52D)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
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 2948780	NM_003995.4(NPR2):c.171C>A (p.Gly57=)	NPR2	Single nucleotide variant (synonymous variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GLikely benign
Select item 450409	NM_003995.4(NPR2):c.173G>C (p.Arg58Pro)	NPR2 (R58P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 913325	NM_003995.4(NPR2):c.190C>T (p.Leu64=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type	GUncertain significance
Select item 1468903	NM_003995.4(NPR2):c.193C>T (p.Arg65Trp)	NPR2 (R65W)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 1481027	NM_003995.4(NPR2):c.194G>A (p.Arg65Gln)	NPR2 (R65Q)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 208357	NM_003995.4(NPR2):c.226T>C (p.Ser76Pro)	NPR2 (S76P)	Single nucleotide variant (missense variant)	Short stature with nonspecific skeletal abnormalities	GPathogenic
Select item 750072	NM_003995.4(NPR2):c.243G>A (p.Pro81=)	NPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739220	NM_003995.4(NPR2):c.243G>T (p.Pro81=)	NPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 998732	NM_003995.4(NPR2):c.263A>C (p.Lys88Thr)	NPR2 (K88T)	Single nucleotide variant (missense variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 1488356	NM_003995.4(NPR2):c.264G>T (p.Lys88Asn)	NPR2 (K88N)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 1895736	NM_003995.4(NPR2):c.276C>T (p.Asp92=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 1695393	NM_003995.4(NPR2):c.277C>A (p.Pro93Thr)	NPR2 (P93T)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type	GLikely pathogenic
Select item 2183048	NM_003995.4(NPR2):c.295C>T (p.Pro99Ser)	NPR2 (P99S)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 694580	NM_003995.4(NPR2):c.298G>A (p.Gly100Ser)	NPR2 (G100S)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type	GLikely pathogenic
Select item 2927421	NM_003995.4(NPR2):c.305T>C (p.Val102Ala)	NPR2 (V102A)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2167237	NM_003995.4(NPR2):c.309C>T (p.Tyr103=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 366778	NM_003995.4(NPR2):c.312T>C (p.Pro104=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type	GUncertain significance
Select item 208359	NM_003995.4(NPR2):c.328C>T (p.Arg110Cys)	NPR2 (R110C)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GConflicting classifications of pathogenicity
Select item 870611	NM_003995.4(NPR2):c.329G>A (p.Arg110His)	NPR2 (R110H)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type	GUncertain significance
Select item 2944002	NM_003995.4(NPR2):c.331T>G (p.Phe111Val)	NPR2 (F111V)	Single nucleotide variant (missense variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 366779	NM_003995.4(NPR2):c.336C>G (p.Ala112=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type	GUncertain significance
Select item 1593346	NM_003995.4(NPR2):c.342C>T (p.His114=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 17785	NM_003995.4(NPR2):c.343T>G (p.Trp115Gly)	NPR2 (W115G)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type	GPathogenic
Select item 2081792	NM_003995.4(NPR2):c.354C>G (p.Pro118=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2938980	NM_003995.4(NPR2):c.361A>C (p.Thr121Pro)	NPR2 (T121P)	Single nucleotide variant (missense variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 1488120	NM_003995.4(NPR2):c.366G>A (p.Ala122=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2949695	NM_003995.4(NPR2):c.385T>G (p.Phe129Val)	NPR2 (F129V)	Single nucleotide variant (missense variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 2187732	NM_003995.4(NPR2):c.388T>G (p.Ser130Ala)	NPR2 (S130A)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 1424945	NM_003995.4(NPR2):c.390G>A (p.Ser130=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2953849	NM_003995.4(NPR2):c.407A>T (p.Tyr136Phe)	NPR2 (Y136F)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2434424	NM_003995.4(NPR2):c.421C>T (p.Arg141Cys)	NPR2 (R141C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 873134	NM_003995.4(NPR2):c.422G>A (p.Arg141His)	NPR2 (R141H)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type	GUncertain significance
Select item 1332741	NM_003995.4(NPR2):c.448G>A (p.Gly150Ser)	NPR2 (G150S)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type	GPathogenic
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 772653	NM_003995.4(NPR2):c.471C>T (p.His157=)	NPR2	Single nucleotide variant (synonymous variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GLikely benign
Select item 2947060	NM_003995.4(NPR2):c.477C>G (p.His159Gln)	NPR2 (H159Q)	Single nucleotide variant (missense variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 541977	NM_003995.4(NPR2):c.477C>T (p.His159=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2078408	NM_003995.4(NPR2):c.482A>G (p.Asn161Ser)	NPR2 (N161S)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 2504095	NM_003995.4(NPR2):c.493del (p.Arg165fs)	NPR2 (R165fs)	Deletion (frameshift variant)	Acromesomelic dysplasia 1, Maroteaux type	GLikely pathogenic
Select item 2074889	NM_003995.4(NPR2):c.491C>G (p.Ala164Gly)	NPR2 (A164G)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 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 931161	NM_003995.4(NPR2):c.494G>A (p.Arg165His)	NPR2 (R165H)	Single nucleotide variant (missense variant)	Short stature with nonspecific skeletal abnormalities +2 more	GUncertain significance
Select item 1395420	NM_003995.4(NPR2):c.507del (p.Tyr170fs)	NPR2 (Y170fs)	Deletion (frameshift variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GPathogenic
Select item 17786	NM_003995.4(NPR2):c.528T>A (p.Asp176Glu)	NPR2 (D176E)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type	GPathogenic
Select item 2427972	NM_003995.4(NPR2):c.542A>G (p.Tyr181Cys)	NPR2 (Y181C)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 1546304	NM_003995.4(NPR2):c.552C>T (p.Ile184=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 375293	NM_003995.4(NPR2):c.560T>A (p.Val187Asp)	NPR2 (V187D)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type	GPathogenic
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 3026872	NM_003995.4(NPR2):c.601C>T (p.Gln201Ter)	NPR2 (Q201*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2952502	NM_003995.4(NPR2):c.607T>C (p.Tyr203His)	NPR2 (Y203H)	Single nucleotide variant (missense variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 1454887	NM_003995.4(NPR2):c.613C>T (p.Arg205Ter)	NPR2 (R205*)	Single nucleotide variant (nonsense)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GPathogenic
Select item 1349905	NM_003995.4(NPR2):c.631G>A (p.Glu211Lys)	NPR2 (E211K)	Single nucleotide variant (missense variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 2045646	NM_003995.4(NPR2):c.636G>A (p.Gln212=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 757349	NM_003995.4(NPR2):c.639C>T (p.Ala213=)	NPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 366780	NM_003995.4(NPR2):c.649A>T (p.Ile217Phe)	NPR2 (I217F)	Single nucleotide variant (missense variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1037301	NM_003995.4(NPR2):c.652C>T (p.Arg218Trp)	NPR2 (R218W)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 802485	NM_003995.4(NPR2):c.653G>A (p.Arg218Gln)	NPR2 (R218Q)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type	GUncertain significance
Select item 873080	NM_003995.4(NPR2):c.661G>A (p.Gly221Arg)	NPR2 (G221R)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2689600	NM_003995.4(NPR2):c.663_664delinsAA (p.Arg222Ser)	NPR2 (R222S)	Indel (missense variant)	not provided	GUncertain significance
Select item 2120266	NM_003995.4(NPR2):c.664C>T (p.Arg222Cys)	NPR2 (R222C)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 1555412	NM_003995.4(NPR2):c.667+11C>A	NPR2	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 1245254	NM_003995.4(NPR2):c.668-188C>T	NPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 475204	NM_003995.4(NPR2):c.668-4C>A	NPR2	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GBenign
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 1995241	NM_003995.4(NPR2):c.668T>G (p.Ile223Ser)	NPR2 (I223S)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 1224364	NM_003995.4(NPR2):c.673_680dup (p.Gly228fs)	NPR2 (G228fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2197798	NM_003995.4(NPR2):c.681C>T (p.Cys227=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 1492949	NM_003995.4(NPR2):c.681C>G (p.Cys227Trp)	NPR2 (C227W)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2178828	NM_003995.4(NPR2):c.694A>G (p.Met232Val)	NPR2 (M232V)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 499442	NM_003995.4(NPR2):c.697C>T (p.Leu233=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GConflicting classifications of pathogenicity
Select item 541974	NM_003995.4(NPR2):c.701A>G (p.His234Arg)	NPR2 (H234R)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2025379	NM_003995.4(NPR2):c.721C>T (p.Gln241Ter)	NPR2 (Q241*)	Single nucleotide variant (nonsense)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GPathogenic
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 2949138	NM_003995.4(NPR2):c.740A>G (p.Asn247Ser)	NPR2 (N247S)	Single nucleotide variant (missense variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 873146	NM_003995.4(NPR2):c.748del (p.Tyr250fs)	NPR2 (Y250fs)	Deletion (frameshift variant)	Acromesomelic dysplasia 1, Maroteaux type	GPathogenic
Select item 1004546	NM_003995.4(NPR2):c.749A>G (p.Tyr250Cys)	NPR2 (Y250C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

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