SPAG8[gene] - 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	LOC130001752, LOC130001753 +1005 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC130001810, LOC130001811 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	ACER2, ACO1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC113839555, LOC113839556 +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001585, LOC130001586 +882 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	PUM3, QNG1 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001472, LOC130001473 +983 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	ACER2, ACO1 +979 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LOC130001648, LOC130001649 +898 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	LOC130001569, LOC130001570 +897 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +893 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	LOC130001690, LOC130001691 +585 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	LOC130001818, LOC130001819 +690 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	LOC126860615, LOC126860616 +435 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	LOC130001735, LOC130001736 +503 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	LOC129662434, LOC130001682 +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 2333667	NM_003995.4(NPR2):c.2713-272T>C	NPR2, SPAG8 (N481S)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3321802	NM_003995.4(NPR2):c.2713-247G>A	NPR2, SPAG8 (P473S)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2237613	NM_003995.4(NPR2):c.2713-243T>A	NPR2, SPAG8 (E471D)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 707361	NM_003995.4(NPR2):c.2713-232C>T	NPR2, SPAG8 (G468R)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GBenign
Select item 3168092	NM_003995.4(NPR2):c.2713-215T>C	NPR2, SPAG8 (Y462C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1282017	NM_003995.4(NPR2):c.2713-172C>G	NPR2, SPAG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1625886	NM_003995.4(NPR2):c.2713-11C>T	NPR2, SPAG8	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 579260	NM_003995.4(NPR2):c.2713-2A>T	NPR2, SPAG8	Single nucleotide variant (splice acceptor variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely pathogenic
Select item 634478	NM_003995.4(NPR2):c.2713G>T (p.Val905Leu)	NPR2, SPAG8 (V905L +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type	GUncertain significance
Select item 873127	NM_003995.4(NPR2):c.2720C>T (p.Thr907Met)	NPR2, SPAG8 (T907M +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +3 more	GPathogenic/Likely pathogenic
Select item 913374	NM_003995.4(NPR2):c.2721G>A (p.Thr907=)	SPAG8, NPR2	Single nucleotide variant (synonymous variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GConflicting classifications of pathogenicity
Select item 194950	NM_003995.4(NPR2):c.2723T>C (p.Ile908Thr)	NPR2, SPAG8 (I908T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2065285	NM_003995.4(NPR2):c.2731G>A (p.Ala911Thr)	NPR2, SPAG8 (A911T +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2085275	NM_003995.4(NPR2):c.2732C>A (p.Ala911Asp)	SPAG8, NPR2 (A911D +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2944318	NM_003995.4(NPR2):c.2738dup (p.Met913fs)	NPR2, SPAG8 (M913fs +1 more)	Duplication (frameshift variant +1 more)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GPathogenic
Select item 1376115	NM_003995.4(NPR2):c.2738T>C (p.Met913Thr)	NPR2, SPAG8 (M916T +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 1520183	NM_003995.4(NPR2):c.2739G>A (p.Met913Ile)	NPR2, SPAG8 (M913I +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2946004	NM_003995.4(NPR2):c.2751C>A (p.Gly917=)	NPR2, SPAG8	Single nucleotide variant (synonymous variant +1 more)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GLikely benign
Select item 735763	NM_003995.4(NPR2):c.2754C>A (p.Leu918=)	NPR2, SPAG8	Single nucleotide variant (synonymous variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2185520	NM_003995.4(NPR2):c.2756C>T (p.Pro919Leu)	NPR2, SPAG8 (P919L +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 449721	NM_003995.4(NPR2):c.2761C>T (p.Arg921Ter)	NPR2, SPAG8 (R921* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 1450866	NM_003995.4(NPR2):c.2762G>A (p.Arg921Gln)	SPAG8, NPR2 (R921Q +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 1985314	NM_003995.4(NPR2):c.2773C>T (p.Arg925Cys)	NPR2, SPAG8 (R925C +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 1506149	NM_003995.4(NPR2):c.2777A>G (p.His926Arg)	NPR2, SPAG8 (H929R +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2083005	NM_003995.4(NPR2):c.2778T>C (p.His926=)	NPR2, SPAG8	Single nucleotide variant (synonymous variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 1684544	NM_003995.4(NPR2):c.2794C>T (p.Arg932Cys)	NPR2, SPAG8 (R932C +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 2	GLikely pathogenic
Select item 1391667	NM_003995.4(NPR2):c.2807C>T (p.Ala936Val)	NPR2, SPAG8 (A936V +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
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 366793	NM_003995.4(NPR2):c.2833C>T (p.Arg945Cys)	NPR2, SPAG8 (R945C +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2153740	NM_003995.4(NPR2):c.2835C>T (p.Arg945=)	NPR2, SPAG8	Single nucleotide variant (synonymous variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2150664	NM_003995.4(NPR2):c.2839C>T (p.Arg947Cys)	SPAG8, NPR2 (R947C +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 1678652	NM_003995.4(NPR2):c.2842dup (p.His948fs)	NPR2, SPAG8 (H948fs +1 more)	Duplication (frameshift variant +1 more)	Short stature with nonspecific skeletal abnormalities	GPathogenic
Select item 914491	NM_003995.4(NPR2):c.2840G>A (p.Arg947His)	SPAG8, NPR2 (R947H +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GUncertain significance
Select item 858821	NM_003995.4(NPR2):c.2840G>C (p.Arg947Pro)	NPR2, SPAG8 (R947P +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 1433253	NM_003995.4(NPR2):c.2845C>T (p.Arg949Ter)	NPR2, SPAG8 (R952* +1 more)	Single nucleotide variant (nonsense +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GPathogenic
Select item 2931329	NM_003995.4(NPR2):c.2858A>G (p.Gln953Arg)	NPR2, SPAG8 (Q956R +1 more)	Single nucleotide variant (missense variant +1 more)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 1513451	NM_003995.4(NPR2):c.2869C>T (p.Arg957Cys)	NPR2, SPAG8 (R957C +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely pathogenic
Select item 873148	NM_003995.4(NPR2):c.2870G>A (p.Arg957His)	NPR2, SPAG8 (R957H +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type	GLikely pathogenic
Select item 423652	NM_003995.4(NPR2):c.2882A>T (p.His961Leu)	SPAG8, NPR2 (H961L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1352843	NM_003995.4(NPR2):c.2885C>G (p.Thr962Ser)	NPR2, SPAG8 (T962S +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2945556	NM_003995.4(NPR2):c.2887+19C>T	NPR2, SPAG8	Single nucleotide variant (intron variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GLikely benign
Select item 2196177	NM_003995.4(NPR2):c.2888-18A>G	NPR2, SPAG8	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 772584	NM_003995.4(NPR2):c.2895C>A (p.Val965=)	NPR2, SPAG8	Single nucleotide variant (synonymous variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 1716854	NM_003995.4(NPR2):c.2897G>C (p.Cys966Ser)	NPR2, SPAG8 (C966S +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2924854	NM_003995.4(NPR2):c.2901T>G (p.Ala967=)	NPR2, SPAG8	Single nucleotide variant (synonymous variant +1 more)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +2 more	GBenign/Likely benign
Select item 2946395	NM_003995.4(NPR2):c.2912G>T (p.Gly971Val)	NPR2, SPAG8 (G971V +1 more)	Single nucleotide variant (missense variant +1 more)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 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 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 2949720	NM_003995.4(NPR2):c.2931T>C (p.Tyr977=)	NPR2, SPAG8	Single nucleotide variant (synonymous variant +1 more)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GLikely benign
Select item 375294	NM_003995.4(NPR2):c.2944G>A (p.Asp982Asn)	NPR2, SPAG8 (D982N +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type	GPathogenic
Select item 2183283	NM_003995.4(NPR2):c.2965C>T (p.Arg989Ter)	NPR2, SPAG8 (R989* +1 more)	Single nucleotide variant (nonsense +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GPathogenic
Select item 800932	NM_003995.4(NPR2):c.2966G>A (p.Arg989Gln)	NPR2, SPAG8 (R989Q +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type	GPathogenic
Select item 418389	NM_003995.4(NPR2):c.2966G>T (p.Arg989Leu)	NPR2, SPAG8 (R989L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2578546	NM_003995.4(NPR2):c.2969T>G (p.Met990Arg)	NPR2, SPAG8 (M990R +1 more)	Single nucleotide variant (missense variant +1 more)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 1723578	NM_003995.4(NPR2):c.2980G>A (p.Gly994Ser)	SPAG8, NPR2 (G994S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2936916	NM_003995.4(NPR2):c.2985A>C (p.Gln995His)	NPR2, SPAG8 (Q995H +1 more)	Single nucleotide variant (missense variant +1 more)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
Select item 2046158	NM_003995.4(NPR2):c.2986+10T>A	NPR2, SPAG8	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 1666973	NM_003995.4(NPR2):c.2987-12C>T	SPAG8, NPR2	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 1629560	NM_003995.4(NPR2):c.2987-11A>G	NPR2, SPAG8	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 1403788	NM_003995.4(NPR2):c.2987C>T (p.Ala996Val)	NPR2, SPAG8 (A999V +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 1116120	NM_003995.4(NPR2):c.2988G>A (p.Ala996=)	NPR2, SPAG8	Single nucleotide variant (synonymous variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
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 1903278	NM_003995.4(NPR2):c.3015C>G (p.Thr1005=)	NPR2, SPAG8	Single nucleotide variant (synonymous variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 3339451	NM_003995.4(NPR2):c.3017A>C (p.Lys1006Thr)	NPR2, SPAG8 (K1006T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 873129	NM_003995.4(NPR2):c.3029A>G (p.Asp1010Gly)	NPR2, SPAG8 (D1010G +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type	GUncertain significance
Select item 475203	NM_003995.4(NPR2):c.3034C>T (p.Leu1012=)	NPR2, SPAG8	Single nucleotide variant (synonymous variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 91957	NM_003995.4(NPR2):c.3048G>T (p.Gln1016His)	NPR2, SPAG8 (Q1016H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 992991	NM_003995.4(NPR2):c.3059G>A (p.Arg1020Gln)	NPR2, SPAG8 (R1020Q +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 2	GUncertain significance
Select item 914492	NM_003995.4(NPR2):c.3063G>C (p.Gly1021=)	SPAG8, NPR2	Single nucleotide variant (synonymous variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type	GUncertain significance
Select item 725718	NM_003995.4(NPR2):c.3078+10G>T	NPR2, SPAG8	Single nucleotide variant (intron variant)	not provided	GLikely benign

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