C4014690[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +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 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)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 193262	NM_003995.4(NPR2):c.64G>T (p.Ala22Ser)	NPR2 (A22S)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +3 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 +2 more	GConflicting classifications of pathogenicity
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 947303	NM_003995.4(NPR2):c.155C>A (p.Ala52Asp)	NPR2 (A52D)	Single nucleotide variant (missense variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 1986963	NM_003995.4(NPR2):c.170G>C (p.Gly57Ala)	NPR2 (G57A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2948780	NM_003995.4(NPR2):c.171C>A (p.Gly57=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
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 998732	NM_003995.4(NPR2):c.263A>C (p.Lys88Thr)	NPR2 (K88T)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 1488356	NM_003995.4(NPR2):c.264G>T (p.Lys88Asn)	NPR2 (K88N)	Single nucleotide variant (missense variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +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 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 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 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 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 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 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)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 1488120	NM_003995.4(NPR2):c.366G>A (p.Ala122=)	NPR2	Single nucleotide variant (synonymous variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GLikely benign
Select item 2949695	NM_003995.4(NPR2):c.385T>G (p.Phe129Val)	NPR2 (F129V)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +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)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 2953849	NM_003995.4(NPR2):c.407A>T (p.Tyr136Phe)	NPR2 (Y136F)	Single nucleotide variant (missense variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +2 more	GUncertain significance
Select item 772653	NM_003995.4(NPR2):c.471C>T (p.His157=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2947060	NM_003995.4(NPR2):c.477C>G (p.His159Gln)	NPR2 (H159Q)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +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)	Inborn genetic diseases +3 more	GUncertain significance
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)	Acromesomelic dysplasia 1, Maroteaux type +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)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	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 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)	Acromesomelic dysplasia 1, Maroteaux type +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 366780	NM_003995.4(NPR2):c.649A>T (p.Ile217Phe)	NPR2 (I217F)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +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 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 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 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 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 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)	not provided +2 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)	not provided +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)	Inborn genetic diseases +2 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)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GUncertain significance
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
Select item 1348509	NM_003995.4(NPR2):c.753CTT[1] (p.Phe253del)	NPR2 (F253del)	Microsatellite (inframe_deletion)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2160347	NM_003995.4(NPR2):c.760T>C (p.Tyr254His)	NPR2 (Y254H)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2187203	NM_003995.4(NPR2):c.787C>T (p.Arg263Cys)	NPR2 (R263C)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GUncertain significance
Select item 1043981	NM_003995.4(NPR2):c.788G>A (p.Arg263His)	NPR2 (R263H)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 208358	NM_003995.4(NPR2):c.788G>C (p.Arg263Pro)	NPR2 (R263P)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 1946395	NM_003995.4(NPR2):c.802C>T (p.Arg268Cys)	NPR2 (R268C)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2940854	NM_003995.4(NPR2):c.803G>A (p.Arg268His)	NPR2 (R268H)	Single nucleotide variant (missense variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 2155822	NM_003995.4(NPR2):c.804T>C (p.Arg268=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 1991499	NM_003995.4(NPR2):c.814C>T (p.Arg272Trp)	NPR2 (R272W)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 1479101	NM_003995.4(NPR2):c.815G>A (p.Arg272Gln)	NPR2 (R272Q)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2947961	NM_003995.4(NPR2):c.826G>A (p.Asp276Asn)	NPR2 (D276N)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2922852	NM_003995.4(NPR2):c.826G>C (p.Asp276His)	NPR2 (D276H)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 521609	NM_003995.4(NPR2):c.830A>G (p.Asn277Ser)	NPR2 (N277S)	Single nucleotide variant (missense variant)	Short stature with nonspecific skeletal abnormalities +3 more	GUncertain significance
Select item 2931737	NM_003995.4(NPR2):c.832C>T (p.Arg278Cys)	NPR2 (R278C)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 914446	NM_003995.4(NPR2):c.833G>A (p.Arg278His)	NPR2 (R278H)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2952946	NM_003995.4(NPR2):c.839G>A (p.Arg280Gln)	NPR2 (R280Q)	Single nucleotide variant (missense variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 2925446	NM_003995.4(NPR2):c.844C>T (p.Gln282Ter)	NPR2 (Q282*)	Single nucleotide variant (nonsense)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GPathogenic
Select item 2172964	NM_003995.4(NPR2):c.855C>G (p.Ala285=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 1427915	NM_003995.4(NPR2):c.863A>C (p.Glu288Ala)	NPR2 (E288A)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 1421074	NM_003995.4(NPR2):c.863A>G (p.Glu288Gly)	NPR2 (E288G)	Single nucleotide variant (missense variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 1410894	NM_003995.4(NPR2):c.873+8T>C	NPR2	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2927081	NM_003995.4(NPR2):c.873+10G>C	NPR2	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 366783	NM_003995.4(NPR2):c.873+13C>A	NPR2	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GBenign/Likely benign
Select item 1565741	NM_003995.4(NPR2):c.880T>C (p.Leu294=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2130909	NM_003995.4(NPR2):c.886A>G (p.Ile296Val)	NPR2 (I296V)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2925447	NM_003995.4(NPR2):c.890C>T (p.Thr297Met)	NPR2 (T297M)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2927042	NM_003995.4(NPR2):c.896G>A (p.Arg299Gln)	NPR2 (R299Q)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 761218	NM_003995.4(NPR2):c.897A>T (p.Arg299=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 760097	NM_003995.4(NPR2):c.915G>A (p.Glu305=)	NPR2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1377064	NM_003995.4(NPR2):c.935G>A (p.Arg312His)	NPR2 (R312H)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2933351	NM_003995.4(NPR2):c.949G>T (p.Ala317Ser)	NPR2 (A317S)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 914447	NM_003995.4(NPR2):c.952C>T (p.Arg318Trp)	NPR2 (R318W)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GUncertain significance
Select item 1000706	NM_003995.4(NPR2):c.953G>A (p.Arg318Gln)	NPR2 (R318Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1951782	NM_003995.4(NPR2):c.965G>A (p.Gly322Asp)	NPR2 (G322D)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 745771	NM_003995.4(NPR2):c.966T>C (p.Gly322=)	NPR2	Single nucleotide variant (synonymous variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GLikely benign
Select item 468349	NM_003995.4(NPR2):c.987+1G>C	NPR2	Single nucleotide variant (splice donor variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely pathogenic

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