ClinVar for Gene (Select 5167) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358143	NM_006208.3(ENPP1):c.2427C>T (p.Ser809=)	ENPP1	Single nucleotide variant (synonymous variant)	ENPP1-related disorder	GLikely benign
Select item 3341939	NM_006208.3(ENPP1):c.1334A>C (p.Lys445Thr)	ENPP1 (K445T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3275475	NM_006208.3(ENPP1):c.280A>G (p.Ile94Val)	ENPP1 (I94V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275474	NM_006208.3(ENPP1):c.260T>C (p.Leu87Ser)	ENPP1 (L87S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275473	NM_006208.3(ENPP1):c.2754G>T (p.Leu918Phe)	ENPP1 (L918F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275472	NM_006208.3(ENPP1):c.2627C>T (p.Ser876Leu)	ENPP1 (S876L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3275471	NM_006208.3(ENPP1):c.1962T>A (p.His654Gln)	ENPP1 (H654Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3246195	NC_000006.11:g.(?_132129176)_(132211651_?)dup	ENPP1	Duplication	not provided	GUncertain significance
Select item 3246194	NC_000006.11:g.(?_131894423)_(133849943_?)del	ARG1, CCN2 +19 more	Deletion	not provided	GPathogenic
Select item 3242313	GRCh37/hg19 6q22.33-23.2(chr6:129969121-132499298)x1	AKAP7, ARG1 +13 more	Copy number loss	not provided	GUncertain significance
Select item 3236124	NM_006208.3(ENPP1):c.1742C>T (p.Pro581Leu)	ENPP1 (P581L)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 2	GUncertain significance
Select item 3088972	NM_006208.3(ENPP1):c.46G>A (p.Gly16Ser)	ENPP1 (G16S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088970	NM_006208.3(ENPP1):c.1825C>T (p.His609Tyr)	ENPP1 (H609Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088969	NM_006208.3(ENPP1):c.1655G>A (p.Gly552Glu)	ENPP1 (G552E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088968	NM_006208.3(ENPP1):c.1510A>C (p.Ser504Arg)	ENPP1 (S504R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088967	NM_006208.3(ENPP1):c.1477C>T (p.His493Tyr)	ENPP1 (H493Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088965	NM_006208.3(ENPP1):c.13G>C (p.Gly5Arg)	ENPP1 (G5R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065414	NM_006208.3(ENPP1):c.1066T>A (p.Trp356Arg)	ENPP1 (W356R)	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 1	GLikely pathogenic
Select item 3064553	NM_006208.3(ENPP1):c.2230+1G>A	ENPP1	Single nucleotide variant (splice donor variant)	Arterial calcification, generalized, of infancy, 1	GPathogenic
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3061114	NM_006208.3(ENPP1):c.1701del (p.Ile567fs)	ENPP1 (I567fs)	Deletion (frameshift variant)	ENPP1-related disorder	GLikely pathogenic
Select item 3059279	NM_006208.3(ENPP1):c.*6T>C	ENPP1	Single nucleotide variant (3 prime UTR variant)	ENPP1-related disorder	GLikely benign
Select item 3027245	NM_006208.3(ENPP1):c.301T>C (p.Cys101Arg)	ENPP1 (C101R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020075	NM_006208.3(ENPP1):c.193C>G (p.Arg65Gly)	ENPP1 (R65G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015557	NM_006208.3(ENPP1):c.61C>T (p.Arg21Trp)	ENPP1 (R21W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011707	NM_006208.3(ENPP1):c.617+19G>A	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009383	NM_006208.3(ENPP1):c.1755C>T (p.Asn585=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008884	NM_006208.3(ENPP1):c.1039G>A (p.Glu347Lys)	ENPP1 (E347K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005835	NM_006208.3(ENPP1):c.1867A>T (p.Asn623Tyr)	ENPP1 (N623Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005184	NM_006208.3(ENPP1):c.1973C>T (p.Pro658Leu)	ENPP1 (P658L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004805	NM_006208.3(ENPP1):c.2500G>A (p.Val834Met)	ENPP1 (V834M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001283	NM_006208.3(ENPP1):c.2010C>T (p.Thr670=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000685	NM_006208.3(ENPP1):c.2371G>A (p.Val791Ile)	ENPP1 (V791I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999520	NM_006208.3(ENPP1):c.2068C>G (p.Pro690Ala)	ENPP1 (P690A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999280	NM_006208.3(ENPP1):c.2187T>C (p.Tyr729=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997961	NM_006208.3(ENPP1):c.2607+16A>G	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991390	NM_006208.3(ENPP1):c.2631G>A (p.Trp877Ter)	ENPP1 (W877*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2989022	NM_006208.3(ENPP1):c.1506T>C (p.Ala502=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988397	NM_006208.3(ENPP1):c.776A>G (p.Asn259Ser)	ENPP1 (N259S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987955	NM_006208.3(ENPP1):c.546T>C (p.Ser182=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2983896	NM_006208.3(ENPP1):c.430+19A>G	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983301	NM_006208.3(ENPP1):c.34C>G (p.Arg12Gly)	ENPP1 (R12G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2981077	NM_006208.3(ENPP1):c.1164+7A>C	ENPP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2977361	NM_006208.3(ENPP1):c.331C>T (p.Arg111Cys)	ENPP1 (R111C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972576	NM_006208.3(ENPP1):c.1563A>C (p.Ala521=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972575	NM_006208.3(ENPP1):c.1560T>A (p.Leu520=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972223	NM_006208.3(ENPP1):c.2029C>A (p.His677Asn)	ENPP1 (H677N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972216	NM_006208.3(ENPP1):c.428C>G (p.Pro143Arg)	ENPP1 (P143R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972029	NM_006208.3(ENPP1):c.958T>C (p.Phe320Leu)	ENPP1 (F320L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971227	NM_006208.3(ENPP1):c.531C>T (p.Cys177=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967356	NM_006208.3(ENPP1):c.416C>T (p.Thr139Met)	ENPP1 (T139M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966045	NM_006208.3(ENPP1):c.454T>G (p.Phe152Val)	ENPP1 (F152V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964095	NM_006208.3(ENPP1):c.430+17A>G	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963361	NM_006208.3(ENPP1):c.2236A>T (p.Asn746Tyr)	ENPP1 (N746Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962040	NM_006208.3(ENPP1):c.1300T>C (p.Tyr434His)	ENPP1 (Y434H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960090	NM_006208.3(ENPP1):c.314-11A>G	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957658	NM_006208.3(ENPP1):c.2100+15C>T	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957517	NM_006208.3(ENPP1):c.1321T>C (p.Leu441=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957034	NM_006208.3(ENPP1):c.2625C>T (p.Ser875=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956963	NM_006208.3(ENPP1):c.459G>A (p.Arg153=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2956825	NM_006208.3(ENPP1):c.855T>A (p.Asn285Lys)	ENPP1 (N285K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2918456	NM_006208.3(ENPP1):c.1855A>G (p.Asn619Asp)	ENPP1 (N619D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909696	NM_006208.3(ENPP1):c.134C>A (p.Ala45Glu)	ENPP1 (A45E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2909498	NM_006208.3(ENPP1):c.2T>C (p.Met1Thr)	ENPP1 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2904088	NM_006208.3(ENPP1):c.117G>T (p.Ala39=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900769	NM_006208.3(ENPP1):c.2192A>G (p.Asn731Ser)	ENPP1 (N731S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900075	NM_006208.3(ENPP1):c.2556C>T (p.Asp852=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899172	NM_006208.3(ENPP1):c.1892C>T (p.Ser631Leu)	ENPP1 (S631L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897393	NM_006208.3(ENPP1):c.105C>T (p.His35=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894965	NM_006208.3(ENPP1):c.897G>A (p.Glu299=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889261	NM_006208.3(ENPP1):c.1804C>T (p.Pro602Ser)	ENPP1 (P602S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888351	NM_006208.3(ENPP1):c.1743G>A (p.Pro581=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877253	NM_006208.3(ENPP1):c.2312-12A>G	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876863	NM_006208.3(ENPP1):c.58C>T (p.Pro20Ser)	ENPP1 (P20S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875263	NM_006208.3(ENPP1):c.2312-5_2313del	ENPP1	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2873053	NM_006208.3(ENPP1):c.249A>G (p.Ser83=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870723	NM_006208.3(ENPP1):c.1407T>C (p.Phe469=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870360	NM_006208.3(ENPP1):c.1581G>C (p.Arg527Ser)	ENPP1 (R527S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867405	NM_006208.3(ENPP1):c.430+20A>G	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863803	NM_006208.3(ENPP1):c.200G>A (p.Arg67His)	ENPP1 (R67H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2862337	NM_006208.3(ENPP1):c.2405A>G (p.Asp802Gly)	ENPP1 (D802G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858906	NM_006208.3(ENPP1):c.265A>G (p.Thr89Ala)	ENPP1 (T89A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854865	NM_006208.3(ENPP1):c.1406-8C>T	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854440	NM_006208.3(ENPP1):c.2445-5T>A	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854041	NM_006208.3(ENPP1):c.2373C>G (p.Val791=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847824	NM_006208.3(ENPP1):c.1870C>T (p.Leu624Phe)	ENPP1 (L624F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838007	NM_006208.3(ENPP1):c.617+10T>C	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836671	NM_006208.3(ENPP1):c.1144T>A (p.Tyr382Asn)	ENPP1 (Y382N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2834666	NM_006208.3(ENPP1):c.2252del (p.Gly751fs)	ENPP1 (G751fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2831660	NM_006208.3(ENPP1):c.516_517delinsGC (p.Asp172_Lys173delinsGluGln)	ENPP1	Indel (missense variant)	not provided	GUncertain significance
Select item 2826382	NM_006208.3(ENPP1):c.664G>A (p.Ala222Thr)	ENPP1 (A222T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2824180	NM_006208.3(ENPP1):c.501A>T (p.Ser167=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819367	NM_006208.3(ENPP1):c.988A>G (p.Asn330Asp)	ENPP1 (N330D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816323	NM_006208.3(ENPP1):c.2633T>G (p.Val878Gly)	ENPP1 (V878G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811782	NM_006208.3(ENPP1):c.2311+5A>C	ENPP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2809487	NM_006208.3(ENPP1):c.1945+19T>C	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2808847	NM_006208.3(ENPP1):c.1997A>G (p.Gln666Arg)	ENPP1 (Q666R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803804	NM_006208.3(ENPP1):c.1719G>A (p.Met573Ile)	ENPP1 (M573I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802275	NM_006208.3(ENPP1):c.430+5G>C	ENPP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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