Related gene-specific medical variations for Gene (Select 26206) - ClinVar

Links from Gene

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2950564	NM_003995.4(NPR2):c.3118C>T (p.Arg1040Trp)	NPR2, SPAG8 (A453T +2 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2949720	NM_003995.4(NPR2):c.2931T>C (p.Tyr977=)	NPR2, SPAG8	Single nucleotide variant (synonymous variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely 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)	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)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2945556	NM_003995.4(NPR2):c.2887+19C>T	NPR2, SPAG8	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2944318	NM_003995.4(NPR2):c.2738dup (p.Met913fs)	NPR2, SPAG8 (M913fs +1 more)	Duplication (frameshift variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GPathogenic
Select item 2936916	NM_003995.4(NPR2):c.2985A>C (p.Gln995His)	NPR2, SPAG8 (Q995H +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2931329	NM_003995.4(NPR2):c.2858A>G (p.Gln953Arg)	SPAG8, NPR2 (Q956R +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)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GBenign/Likely benign
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 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 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 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 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 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 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 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 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)	NPR2, SPAG8 (R947C +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 2145290	NM_003995.4(NPR2):c.3078+14A>G	SPAG8, NPR2	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 2085275	NM_003995.4(NPR2):c.2732C>A (p.Ala911Asp)	NPR2, SPAG8 (A911D +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 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 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 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 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 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 1721922	NM_003995.4(NPR2):c.3086G>T (p.Gly1029Val)	NPR2, SPAG8 (G1029V +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
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 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 1678652	NM_003995.4(NPR2):c.2842dup (p.His948fs)	SPAG8, NPR2 (H948fs +1 more)	Duplication (frameshift variant +1 more)	Short stature with nonspecific skeletal abnormalities	GPathogenic
Select item 1668850	NM_003995.4(NPR2):c.3079-10C>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	NPR2, SPAG8	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 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 1614406	NM_003995.4(NPR2):c.3102C>T (p.Tyr1034=)	NPR2, SPAG8	Single nucleotide variant (synonymous variant +2 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 1580169	NM_003995.4(NPR2):c.3078+17G>A	NPR2, SPAG8	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
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 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 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 1450866	NM_003995.4(NPR2):c.2762G>A (p.Arg921Gln)	NPR2, SPAG8 (R921Q +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 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 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 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 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 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 1282017	NM_003995.4(NPR2):c.2713-172C>G	NPR2, SPAG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250991	NM_003995.4(NPR2):c.3079-49A>G	NPR2, SPAG8	Single nucleotide variant (intron variant)	not provided	GBenign
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 1044291	NM_003995.4(NPR2):c.3105G>T (p.Trp1035Cys)	SPAG8, NPR2 (A457D +2 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 1034725	NM_003995.4(NPR2):c.3119G>A (p.Arg1040Gln)	SPAG8, NPR2 (R1040Q +1 more)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1032171	NM_003995.4(NPR2):c.3078+16G>T	NPR2, SPAG8	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GConflicting classifications of pathogenicity
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 914494	NM_003995.4(NPR2):c.*270A>T	NPR2, SPAG8	Single nucleotide variant (3 prime UTR variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type	GUncertain significance
Select item 914493	NM_003995.4(NPR2):c.*2C>T	NPR2, SPAG8	Single nucleotide variant (synonymous variant +2 more)	Acromesomelic dysplasia 1, Maroteaux type	GUncertain significance
Select item 914492	NM_003995.4(NPR2):c.3063G>C (p.Gly1021=)	NPR2, SPAG8	Single nucleotide variant (synonymous variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type	GUncertain significance
Select item 914491	NM_003995.4(NPR2):c.2840G>A (p.Arg947His)	NPR2, SPAG8 (R947H +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GUncertain significance
Select item 913374	NM_003995.4(NPR2):c.2721G>A (p.Thr907=)	NPR2, SPAG8	Single nucleotide variant (synonymous variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GConflicting classifications of pathogenicity
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 873131	NM_003995.4(NPR2):c.3113_3115del (p.Gly1038del)	NPR2, SPAG8 (L455del +2 more)	Deletion (inframe_deletion +1 more)	Acromesomelic dysplasia 1, Maroteaux type	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 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 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 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 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 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 725718	NM_003995.4(NPR2):c.3078+10G>T	NPR2, SPAG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 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)	SPAG8, NPR2 (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 418389	NM_003995.4(NPR2):c.2966G>T (p.Arg989Leu)	SPAG8, NPR2 (R989L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
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 366793	NM_003995.4(NPR2):c.2833C>T (p.Arg945Cys)	SPAG8, NPR2 (R945C +1 more)	Single nucleotide variant (missense variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GUncertain significance
Select item 288222	NM_003995.4(NPR2):c.3087A>C (p.Gly1029=)	NPR2, SPAG8	Single nucleotide variant (synonymous variant +1 more)	Acromesomelic dysplasia 1, Maroteaux type +2 more	GConflicting classifications of pathogenicity
Select item 194950	NM_003995.4(NPR2):c.2723T>C (p.Ile908Thr)	SPAG8, NPR2 (I908T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 92034	NM_001039592.2(SPAG8):c.618C>T (p.Asp206=)	SPAG8	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 91957	NM_003995.4(NPR2):c.3048G>T (p.Gln1016His)	SPAG8, NPR2 (Q1016H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 83