ClinVar for Gene (Select 26206) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063115	GRCh37/hg19 9p13.3-13.1(chr9:35440393-38787480)x1	ALDH1B1, ANKRD18A +44 more	Copy number loss	not specified	GLikely pathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 2950564	NM_003995.4(NPR2):c.3118C>T (p.Arg1040Trp)	NPR2, SPAG8 (A453T +2 more)	Single nucleotide variant (missense variant +1 more)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +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)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +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)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +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 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 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 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 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 2924854	NM_003995.4(NPR2):c.2901T>G (p.Ala967=)	NPR2, SPAG8	Single nucleotide variant (synonymous variant +1 more)	NPR2-related condition +2 more	GBenign/Likely benign
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	ACER2, ACO1 +188 more	Copy number gain	not provided	GPathogenic
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 2559722	NM_001039592.2(SPAG8):c.133G>C (p.Ala45Pro)	SPAG8 (A45P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530984	NM_001039592.2(SPAG8):c.925T>G (p.Phe309Val)	SPAG8 (F309V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485198	NM_001039592.2(SPAG8):c.395G>C (p.Ser132Thr)	SPAG8 (S132T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463320	NM_001039592.2(SPAG8):c.313A>T (p.Asn105Tyr)	SPAG8 (N105Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2427794	NC_000009.11:g.(?_34370797)_(36276941_?)dup	MYORG, OR13J1 +51 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 2422485	NC_000009.11:g.(?_32453279)_(37785041_?)dup	ANKRD18B, APTX +87 more	Duplication	not provided	GUncertain significance
Select item 2394334	NM_001039592.2(SPAG8):c.756A>C (p.Glu252Asp)	SPAG8 (E252D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394333	NM_001039592.2(SPAG8):c.593G>C (p.Gly198Ala)	SPAG8 (G198A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379142	NM_001039592.2(SPAG8):c.1151A>G (p.His384Arg)	SPAG8 (H384R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378361	NM_001039592.2(SPAG8):c.989C>G (p.Thr330Ser)	SPAG8 (T330S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372851	NM_001039592.2(SPAG8):c.706C>T (p.Pro236Ser)	SPAG8 (P236S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353280	NM_001039592.2(SPAG8):c.64A>G (p.Ser22Gly)	SPAG8 (S22G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351589	NM_001039592.2(SPAG8):c.74G>A (p.Gly25Glu)	SPAG8 (G25E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2341439	NM_001039592.2(SPAG8):c.8C>T (p.Thr3Ile)	SPAG8 (T3I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340951	NM_001039592.2(SPAG8):c.1180G>A (p.Gly394Arg)	SPAG8 (G394R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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 2303987	NM_001039592.2(SPAG8):c.989C>A (p.Thr330Asn)	SPAG8 (T330N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2303047	NM_001039592.2(SPAG8):c.830G>A (p.Arg277Gln)	SPAG8 (R277Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286557	NM_001039592.2(SPAG8):c.689C>A (p.Ser230Tyr)	SPAG8 (S230Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282601	NM_001039592.2(SPAG8):c.346G>T (p.Val116Phe)	SPAG8 (V116F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276394	NM_001039592.2(SPAG8):c.1031C>T (p.Pro344Leu)	SPAG8 (P344L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272693	NM_001039592.2(SPAG8):c.14A>C (p.Glu5Ala)	SPAG8 (E5A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245091	NM_001039592.2(SPAG8):c.293C>G (p.Ala98Gly)	SPAG8 (A98G)	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 2238287	NM_001039592.2(SPAG8):c.584C>T (p.Pro195Leu)	SPAG8 (P195L)	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)	Inborn genetic diseases	GUncertain significance
Select item 2236010	NM_001039592.2(SPAG8):c.900G>A (p.Met300Ile)	SPAG8 (M300I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224037	NM_001039592.2(SPAG8):c.670C>T (p.Arg224Trp)	SPAG8 (R224W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2223608	NM_001039592.2(SPAG8):c.1037G>A (p.Arg346Gln)	SPAG8 (R346Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220812	NM_001039592.2(SPAG8):c.1160G>A (p.Arg387Gln)	SPAG8 (R387Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	SPAG8, NPR2 (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=)	SPAG8, NPR2	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	NPR2, SPAG8	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)	SPAG8, NPR2 (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 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	FOXD4, PLGRKT +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1704647	GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	ACER2, ACO1 +169 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	GPathogenic
Select item 1684544	NM_003995.4(NPR2):c.2794C>T (p.Arg932Cys)	SPAG8, NPR2 (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)	NPR2, SPAG8 (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)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GLikely benign
Select item 1666973	NM_003995.4(NPR2):c.2987-12C>T	NPR2, SPAG8	Single nucleotide variant (intron variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GLikely benign
Select item 1629560	NM_003995.4(NPR2):c.2987-11A>G	NPR2, SPAG8	Single nucleotide variant (intron variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GLikely benign
Select item 1625886	NM_003995.4(NPR2):c.2713-11C>T	NPR2, SPAG8	Single nucleotide variant (intron variant)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +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)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +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 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	CDKN2B-AS1, ABHD17B +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACO1, IFNA8 +205 more	Copy number gain	not specified	GPathogenic
Select item 1520183	NM_003995.4(NPR2):c.2739G>A (p.Met913Ile)	NPR2, SPAG8 (M913I +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)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +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)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GUncertain significance
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 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)	SPAG8, NPR2 (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)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +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 1210154	GRCh37/hg19 9p13.3-13.2(chr9:35059633-37660586)x1	RMRP, RNF38 +42 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 1116120	NM_003995.4(NPR2):c.2988G>A (p.Ala996=)	NPR2, SPAG8	Single nucleotide variant (synonymous variant +1 more)	Tall stature-scoliosis-macrodactyly of the great toes syndrome +1 more	GLikely benign
Select item 1070621	NC_000009.11:g.(?_34459004)_(36276941_?)del	FAM221B, FANCG +48 more	Deletion	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
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 1041826	NC_000009.11:g.(?_35683146)_(36277049_?)dup	GNE, HINT2 +17 more	Duplication	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 1034725	NM_003995.4(NPR2):c.3119G>A (p.Arg1040Gln)	NPR2, SPAG8 (R1040Q +1 more)	Single nucleotide variant (synonymous variant +2 more)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GLikely benign
Select item 1032171	NM_003995.4(NPR2):c.3078+16G>T	SPAG8, NPR2	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 980343	GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3	ACO1, ANKRD18B +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 976671	GRCh37/hg19 9p13.3(chr9:35799615-35808850)	NPR2, SPAG8	Copy number loss	Acromesomelic dysplasia 1, Maroteaux type	GPathogenic
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

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