ClinVar for MedGen (Select 442380) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1699973	NM_006208.3(ENPP1):c.2192del (p.Asn731fs)	ENPP1 (N731fs)	Deletion (frameshift variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GPathogenic
Select item 1699967	NM_006208.3(ENPP1):c.26dup (p.Gly10fs)	ENPP1 (G10fs)	Duplication (frameshift variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GPathogenic
Select item 1699966	NM_006208.3(ENPP1):c.2230C>T (p.Gln744Ter)	ENPP1 (Q744*)	Single nucleotide variant (nonsense)	Arterial calcification, generalized, of infancy, 1 +1 more	GPathogenic
Select item 1699964	NM_006208.3(ENPP1):c.196_197del (p.Ala66fs)	ENPP1 (A66fs)	Microsatellite (frameshift variant)	Arterial calcification, generalized, of infancy, 1 +1 more	GPathogenic
Select item 1699963	NM_006208.3(ENPP1):c.1273+1G>A	ENPP1	Single nucleotide variant (splice donor variant)	Hypophosphatemic rickets, autosomal recessive, 2	GPathogenic
Select item 1699959	NM_006208.3(ENPP1):c.574del (p.Glu192fs)	ENPP1 (E192fs)	Deletion (frameshift variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GPathogenic
Select item 1699957	NM_006208.3(ENPP1):c.511A>T (p.Lys171Ter)	ENPP1 (K171*)	Single nucleotide variant (nonsense)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GPathogenic
Select item 1699955	NM_006208.3(ENPP1):c.915+1G>A	ENPP1	Single nucleotide variant (splice donor variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GPathogenic
Select item 1674352	NM_006208.3(ENPP1):c.795+12A>G	ENPP1	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +5 more	GLikely benign
Select item 1669974	NM_006208.3(ENPP1):c.313+8_313+9insTTGTGTGT	ENPP1	Insertion (intron variant)	Type 2 diabetes mellitus +5 more	GLikely benign
Select item 1529764	NM_006208.3(ENPP1):c.2311+8A>G	ENPP1	Single nucleotide variant (intron variant)	not provided +5 more	GLikely benign
Select item 1442096	NM_006208.3(ENPP1):c.2252G>A (p.Gly751Glu)	ENPP1 (G751E)	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 1 +5 more	GUncertain significance
Select item 1409337	NM_006208.3(ENPP1):c.595A>G (p.Asn199Asp)	ENPP1 (N199D)	Single nucleotide variant (missense variant)	Hypopigmentation-punctate palmoplantar keratoderma syndrome +5 more	GUncertain significance
Select item 1397275	NM_006208.3(ENPP1):c.1352A>G (p.Tyr451Cys)	ENPP1 (Y451C)	Single nucleotide variant (missense variant)	Hypopigmentation-punctate palmoplantar keratoderma syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1179191	NM_006208.3(ENPP1):c.2344C>T (p.Arg782Ter)	ENPP1 (R782*)	Single nucleotide variant (nonsense)	ENPP1-Related Disorders +6 more	GPathogenic
Select item 1169635	NM_006208.3(ENPP1):c.313+8_313+9dup	ENPP1	Duplication (intron variant)	not provided +6 more	GBenign/Likely benign
Select item 1101510	NM_006208.3(ENPP1):c.2445-5T>C	ENPP1	Single nucleotide variant (intron variant)	ENPP1-related condition +6 more	GLikely benign
Select item 968927	NM_006208.3(ENPP1):c.1699A>G (p.Ile567Val)	ENPP1 (I567V)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 953229	NM_006208.3(ENPP1):c.626C>T (p.Thr209Met)	ENPP1 (T209M)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 930370	NM_006208.3(ENPP1):c.313+11_313+15del	ENPP1	Deletion (intron variant)	Hypophosphatemic rickets, autosomal recessive, 2 +4 more	GBenign
Select item 907885	NM_006208.3(ENPP1):c.*4507A>G	ENPP1	Single nucleotide variant (3 prime UTR variant)	Arterial calcification, generalized, of infancy, 1 +1 more	GUncertain significance
Select item 907820	NM_006208.3(ENPP1):c.*3879A>G	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GBenign
Select item 907651	NM_006208.3(ENPP1):c.*1307T>G	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GLikely benign
Select item 907525	NM_006208.3(ENPP1):c.*577G>A	ENPP1	Single nucleotide variant (3 prime UTR variant)	Arterial calcification, generalized, of infancy, 1 +1 more	GUncertain significance
Select item 907459	NM_006208.3(ENPP1):c.*120C>T	ENPP1	Single nucleotide variant (3 prime UTR variant)	Arterial calcification, generalized, of infancy, 1 +1 more	GUncertain significance
Select item 907458	NM_006208.3(ENPP1):c.*103A>G	ENPP1	Single nucleotide variant (3 prime UTR variant)	Arterial calcification, generalized, of infancy, 1 +1 more	GUncertain significance
Select item 907409	NM_006208.3(ENPP1):c.2191A>T (p.Asn731Tyr)	ENPP1 (N731Y)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 907283	NM_006208.3(ENPP1):c.313+11G>T	ENPP1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 906899	NM_006208.3(ENPP1):c.*4471C>T	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance
Select item 906898	NM_006208.3(ENPP1):c.*4369C>T	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance
Select item 906897	NM_006208.3(ENPP1):c.*4332C>T	ENPP1	Single nucleotide variant (3 prime UTR variant)	Arterial calcification, generalized, of infancy, 1 +1 more	GUncertain significance
Select item 906830	NM_006208.3(ENPP1):c.*3718C>T	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance
Select item 906786	NM_006208.3(ENPP1):c.*2966C>G	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance
Select item 906701	NM_006208.3(ENPP1):c.*1940T>G	ENPP1	Single nucleotide variant (3 prime UTR variant)	Arterial calcification, generalized, of infancy, 1 +1 more	GUncertain significance
Select item 906700	NM_006208.3(ENPP1):c.*1864T>C	ENPP1	Single nucleotide variant (3 prime UTR variant)	Arterial calcification, generalized, of infancy, 1 +1 more	GUncertain significance
Select item 906699	NM_006208.3(ENPP1):c.*1858C>G	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance
Select item 906628	NM_006208.3(ENPP1):c.*1239T>C	ENPP1	Single nucleotide variant (3 prime UTR variant)	Arterial calcification, generalized, of infancy, 1 +1 more	GUncertain significance
Select item 906566	NM_006208.3(ENPP1):c.*902G>A	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance
Select item 906514	NM_006208.3(ENPP1):c.*516T>C	ENPP1	Single nucleotide variant (3 prime UTR variant)	Arterial calcification, generalized, of infancy, 1 +1 more	GUncertain significance
Select item 906513	NM_006208.3(ENPP1):c.*477A>T	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GBenign
Select item 906337	NM_006208.3(ENPP1):c.685G>A (p.Gly229Ser)	ENPP1 (G229S)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 906279	NM_006208.3(ENPP1):c.214C>T (p.Pro72Ser)	ENPP1 (P72S)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance
Select item 906278	NM_006208.3(ENPP1):c.157A>G (p.Met53Val)	ENPP1 (M53V)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance
Select item 905886	NM_006208.3(ENPP1):c.1998G>A (p.Gln666=)	ENPP1	Single nucleotide variant (synonymous variant)	Hypophosphatemic rickets, autosomal recessive, 2 +2 more	GConflicting classifications of pathogenicity
Select item 905829	NM_006208.3(ENPP1):c.614C>A (p.Ala205Glu)	ENPP1 (A205E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 905828	NM_006208.3(ENPP1):c.601C>T (p.Pro201Ser)	ENPP1 (P201S)	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 1 +1 more	GUncertain significance
Select item 905827	NM_006208.3(ENPP1):c.536A>G (p.Asn179Ser)	ENPP1 (N179S)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 2 +2 more	GConflicting classifications of pathogenicity
Select item 905766	NM_006208.3(ENPP1):c.10G>A (p.Asp4Asn)	ENPP1 (D4N)	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 1 +1 more	GUncertain significance
Select item 905297	NM_006208.3(ENPP1):c.*4287G>A	ENPP1	Single nucleotide variant (3 prime UTR variant)	Arterial calcification, generalized, of infancy, 1 +1 more	GUncertain significance
Select item 905296	NM_006208.3(ENPP1):c.*4064T>C	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GBenign
Select item 905295	NM_006208.3(ENPP1):c.*4047C>T	ENPP1	Single nucleotide variant (3 prime UTR variant)	Arterial calcification, generalized, of infancy, 1 +1 more	GUncertain significance
Select item 905238	NM_006208.3(ENPP1):c.*3602C>T	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance
Select item 905237	NM_006208.3(ENPP1):c.*3600G>T	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance
Select item 905183	NM_006208.3(ENPP1):c.*2564A>G	ENPP1	Single nucleotide variant (3 prime UTR variant)	Arterial calcification, generalized, of infancy, 1 +1 more	GUncertain significance
Select item 905182	NM_006208.3(ENPP1):c.*2543T>G	ENPP1	Single nucleotide variant (3 prime UTR variant)	Arterial calcification, generalized, of infancy, 1 +1 more	GUncertain significance
Select item 905123	NM_006208.3(ENPP1):c.*1716G>A	ENPP1	Single nucleotide variant (3 prime UTR variant)	Arterial calcification, generalized, of infancy, 1 +1 more	GUncertain significance
Select item 905122	NM_006208.3(ENPP1):c.*1618A>G	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance
Select item 905043	NM_006208.3(ENPP1):c.*1224A>G	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GBenign
Select item 904978	NM_006208.3(ENPP1):c.*848T>C	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance
Select item 904977	NM_006208.3(ENPP1):c.*804A>G	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GLikely benign
Select item 904921	NM_006208.3(ENPP1):c.*400C>A	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GBenign
Select item 904920	NM_006208.3(ENPP1):c.*392G>A	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance
Select item 904854	NM_006208.3(ENPP1):c.2444+10T>C	ENPP1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 904576	NM_006208.3(ENPP1):c.*4620G>T	ENPP1	Single nucleotide variant (3 prime UTR variant)	Arterial calcification, generalized, of infancy, 1 +1 more	GUncertain significance
Select item 904509	NM_006208.3(ENPP1):c.*4014C>A	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance
Select item 904508	NM_006208.3(ENPP1):c.*3920G>A	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance
Select item 904507	NM_006208.3(ENPP1):c.*3919C>T	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance
Select item 904506	NM_006208.3(ENPP1):c.*3885C>T	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance
Select item 904388	NM_006208.3(ENPP1):c.*2073C>G	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance
Select item 904322	NM_006208.3(ENPP1):c.*1525T>G	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance
Select item 904253	NM_006208.3(ENPP1):c.*1125G>T	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance
Select item 904252	NM_006208.3(ENPP1):c.*1105T>C	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance
Select item 904198	NM_006208.3(ENPP1):c.*671T>C	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance
Select item 904197	NM_006208.3(ENPP1):c.*657A>G	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance
Select item 904143	NM_006208.3(ENPP1):c.*150G>A	ENPP1	Single nucleotide variant (3 prime UTR variant)	Arterial calcification, generalized, of infancy, 1 +1 more	GLikely benign
Select item 904142	NM_006208.3(ENPP1):c.*128C>T	ENPP1	Single nucleotide variant (3 prime UTR variant)	Arterial calcification, generalized, of infancy, 1 +4 more	GUncertain significance
Select item 904077	NM_006208.3(ENPP1):c.2415A>T (p.Gly805=)	ENPP1	Single nucleotide variant (synonymous variant)	Arterial calcification, generalized, of infancy, 1 +2 more	GConflicting classifications of pathogenicity
Select item 904076	NM_006208.3(ENPP1):c.2380G>A (p.Val794Ile)	ENPP1 (V794I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 904011	NM_006208.3(ENPP1):c.1724-5T>G	ENPP1	Single nucleotide variant (intron variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance
Select item 903943	NM_006208.3(ENPP1):c.443C>G (p.Thr148Ser)	ENPP1 (T148S)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance
Select item 903942	NM_006208.3(ENPP1):c.313+15G>T	ENPP1	Single nucleotide variant (intron variant)	Arterial calcification, generalized, of infancy, 1 +2 more	GConflicting classifications of pathogenicity
Select item 903941	NM_006208.3(ENPP1):c.313+13G>T	ENPP1	Single nucleotide variant (intron variant)	Hypophosphatemic rickets, autosomal recessive, 2 +2 more	GConflicting classifications of pathogenicity
Select item 846125	NM_006208.3(ENPP1):c.1437+3_1437+6del	ENPP1	Deletion (splice donor variant)	Hypopigmentation-punctate palmoplantar keratoderma syndrome +5 more	GUncertain significance
Select item 788102	NM_006208.3(ENPP1):c.2462G>A (p.Arg821His)	ENPP1 (R821H)	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 1 +3 more	GConflicting classifications of pathogenicity
Select item 783000	NM_006208.3(ENPP1):c.1274-5C>T	ENPP1	Single nucleotide variant (intron variant)	not provided +5 more	GLikely benign
Select item 732180	NM_006208.3(ENPP1):c.1653T>C (p.Tyr551=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 722482	NM_006208.3(ENPP1):c.522C>T (p.Gly174=)	ENPP1	Single nucleotide variant (synonymous variant)	ENPP1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 717550	NM_006208.3(ENPP1):c.750G>A (p.Pro250=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 596161	NM_006208.3(ENPP1):c.2624C>T (p.Ser875Phe)	ENPP1 (S875F)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 561005	NM_006208.3(ENPP1):c.2330A>G (p.His777Arg)	ENPP1 (H777R)	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 1 +6 more	GUncertain significance
Select item 547984	NM_006208.3(ENPP1):c.323G>T (p.Cys108Phe)	ENPP1 (C108F)	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 1 +1 more	GLikely pathogenic
Select item 547983	NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp)	ENPP1 (R481W)	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 1 +2 more	GConflicting classifications of pathogenicity
Select item 445386	NM_006208.3(ENPP1):c.2608-1G>A	ENPP1	Single nucleotide variant (splice acceptor variant)	Obesity +5 more	GLikely pathogenic
Select item 444060	NM_006208.3(ENPP1):c.430+1del	ENPP1	Deletion (splice donor variant)	Hypophosphatemic rickets, autosomal recessive, 2	GPathogenic
Select item 435061	NM_006208.3(ENPP1):c.2336C>A (p.Thr779Asn)	ENPP1 (T779N)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 355434	NM_006208.3(ENPP1):c.*4641A>G	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GBenign
Select item 355433	NM_006208.3(ENPP1):c.*4636C>T	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GBenign
Select item 355432	NM_006208.3(ENPP1):c.*4586G>A	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance
Select item 355431	NM_006208.3(ENPP1):c.*4571G>C	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GBenign
Select item 355430	NM_006208.3(ENPP1):c.*4346T>A	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance

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