"GeneDx"[submitter] AND "NPR2"[gene] - ClinVar

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Items: 49

	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 366776	NM_003995.4(NPR2):c.18T>C (p.Leu6=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GBenign
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 450409	NM_003995.4(NPR2):c.173G>C (p.Arg58Pro)	NPR2 (R58P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 870611	NM_003995.4(NPR2):c.329G>A (p.Arg110His)	NPR2 (R110H)	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)	not provided +1 more	GUncertain significance
Select item 1245254	NM_003995.4(NPR2):c.668-188C>T	NPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1004546	NM_003995.4(NPR2):c.749A>G (p.Tyr250Cys)	NPR2 (Y250C)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GUncertain significance
Select item 1243993	NM_003995.4(NPR2):c.874-200AC[13]	NPR2	Microsatellite (intron variant)	not provided	GBenign
Select item 427026	NM_003995.4(NPR2):c.1132G>A (p.Gly378Arg)	NPR2 (G378R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2497965	NM_003995.4(NPR2):c.1160A>G (p.Asp387Gly)	NPR2 (D387G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311487	NM_003995.4(NPR2):c.1205C>T (p.Ser402Phe)	NPR2 (S402F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 375290	NM_003995.4(NPR2):c.1435C>T (p.Arg479Ter)	NPR2 (R479* +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1252722	NM_003995.4(NPR2):c.1436+82T>C	NPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271508	NM_003995.4(NPR2):c.1437-204C>T	NPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258692	NM_003995.4(NPR2):c.1558-67C>A	NPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261549	NM_003995.4(NPR2):c.1632+95G>C	NPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 873128	NM_003995.4(NPR2):c.1673T>C (p.Ile558Thr)	NPR2 (I558T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 452267	NM_003995.4(NPR2):c.1714A>T (p.Arg572Ter)	NPR2 (R572* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 430533	NM_003995.4(NPR2):c.1739C>G (p.Thr580Ser)	NPR2 (T580S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 366787	NM_003995.4(NPR2):c.1794C>T (p.Tyr598=)	NPR2	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GBenign
Select item 504337	NM_003995.4(NPR2):c.1813C>T (p.Gln605Ter)	NPR2 (Q605* +1 more)	Single nucleotide variant (nonsense)	NPR2-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 972990	NM_003995.4(NPR2):c.1922C>T (p.Ser641Leu)	NPR2 (S641L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 422550	NM_003995.4(NPR2):c.1968dup (p.Val657fs)	NPR2 (V657fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2499814	NM_003995.4(NPR2):c.2123A>G (p.Tyr708Cys)	NPR2 (Y708C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2506595	NM_003995.4(NPR2):c.2366T>C (p.Phe789Ser)	NPR2 (F789S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 208356	NM_003995.4(NPR2):c.2455C>T (p.Arg819Cys)	NPR2 (R819C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1244961	NM_003995.4(NPR2):c.2520-189C>A	NPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 817489	NM_003995.4(NPR2):c.2527del (p.Ala843fs)	NPR2 (A843fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 423845	NM_003995.4(NPR2):c.2542C>T (p.Arg848Trp)	NPR2 (R848W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 541975	NM_003995.4(NPR2):c.2644G>A (p.Val882Ile)	NPR2 (V882I +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GUncertain significance
Select item 451793	NM_003995.4(NPR2):c.2653C>G (p.Leu885Val)	NPR2 (L885V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1225460	NM_003995.4(NPR2):c.2712+147C>T	NPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244095	NM_003995.4(NPR2):c.2712+249A>G	NPR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282017	NM_003995.4(NPR2):c.2713-172C>G	NPR2, SPAG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 449721	NM_003995.4(NPR2):c.2761C>T (p.Arg921Ter)	NPR2, SPAG8 (R921* +1 more)	Single nucleotide variant (nonsense +1 more)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GPathogenic
Select item 432688	NM_003995.4(NPR2):c.2833C>G (p.Arg945Gly)	NPR2, SPAG8 (R945G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 423652	NM_003995.4(NPR2):c.2882A>T (p.His961Leu)	NPR2, SPAG8 (H961L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364220	NM_003995.4(NPR2):c.2888G>A (p.Gly963Glu)	NPR2, SPAG8 (G963E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1314814	NM_003995.4(NPR2):c.2923C>A (p.Pro975Thr)	NPR2, SPAG8 (P975T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 418389	NM_003995.4(NPR2):c.2966G>T (p.Arg989Leu)	NPR2, SPAG8 (R989L +1 more)	Single nucleotide variant (missense variant +1 more)	NPR2-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 1723578	NM_003995.4(NPR2):c.2980G>A (p.Gly994Ser)	NPR2, SPAG8 (G994S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3340206	NM_003995.4(NPR2):c.3058C>T (p.Arg1020Trp)	NPR2, SPAG8 (R1020W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1250991	NM_003995.4(NPR2):c.3079-49A>G	NPR2, SPAG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACER2, ACO1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 49