4882[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001507, LOC130001508 +899 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	SPATA31F3, SPATA31G1 +898 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ANKRD18B, APTX +899 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +894 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +691 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	ACO1, ALDH1B1 +436 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	ACO1, ALDH1B1 +504 more	Copy number gain	See cases	GPathogenic
Select item 144347	GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3	ALDH1B1, ANKRD18B +360 more	Copy number gain	See cases	GPathogenic
Select item 145374	GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1	PTENP1-AS, RECK +211 more	Copy number loss	See cases	GPathogenic
Select item 583788	NC_000009.11:g.(?_34645556)_(36277059_?)dup	CCIN, SPATA31F1 +138 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 144556	GRCh38/hg38 9p13.3-13.1(chr9:35623500-38815474)x3	ALDH1B1, ANKRD18A +219 more	Copy number gain	See cases	GPathogenic
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)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +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)	Acromesomelic dysplasia 1, Maroteaux type +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 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)	Acromesomelic dysplasia 1, Maroteaux type +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 3382085	NM_003995.4(NPR2):c.208G>A (p.Glu70Lys)	NPR2 (E70K)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type	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)	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)	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)	not provided	GUncertain significance
Select item 2944002	NM_003995.4(NPR2):c.331T>G (p.Phe111Val)	NPR2 (F111V)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type +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)	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)	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)	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)	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 +2 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)	not provided +1 more	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	GConflicting classifications of pathogenicity
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)	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 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)	Acromesomelic dysplasia 1, Maroteaux type +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 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

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