ClinVar for MedGen (Select 1631685) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 255

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2584779	NM_006208.3(ENPP1):c.2230+5G>A	ENPP1	Single nucleotide variant (intron variant)	Arterial calcification, generalized, of infancy, 1	GPathogenic
Select item 2429732	NM_006208.3(ENPP1):c.2746del (p.Thr916fs)	ENPP1 (T916fs)	Deletion (frameshift variant)	Arterial calcification, generalized, of infancy, 1	GLikely pathogenic
Select item 1699975	NM_006208.3(ENPP1):c.2664del (p.Ile889fs)	ENPP1 (I889fs)	Deletion (frameshift variant)	Arterial calcification, generalized, of infancy, 1	GPathogenic
Select item 1699974	NM_006208.3(ENPP1):c.2300del (p.Gln767fs)	ENPP1 (Q767fs)	Deletion (frameshift variant)	Arterial calcification, generalized, of infancy, 1	GPathogenic
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 1699972	NM_006208.3(ENPP1):c.208A>T (p.Lys70Ter)	ENPP1 (K70*)	Single nucleotide variant (nonsense)	Arterial calcification, generalized, of infancy, 1	GPathogenic
Select item 1699971	NM_006208.3(ENPP1):c.1273+2T>C	ENPP1	Single nucleotide variant (splice donor variant)	Arterial calcification, generalized, of infancy, 1	GPathogenic
Select item 1699970	NC_000006.12:g.131688637_132215008del	CCN2, CCN2-AS1 +14 more	Deletion	Arterial calcification, generalized, of infancy, 1	GPathogenic
Select item 1699969	NM_006208.3(ENPP1):c.1106C>T (p.Thr369Ile)	ENPP1 (T369I)	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 1	GUncertain significance
Select item 1699968	NM_006208.3(ENPP1):c.665C>A (p.Ala222Glu)	ENPP1 (A222E)	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 1	GUncertain significance
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 1699965	NM_006208.3(ENPP1):c.1026-59_1026-10del	ENPP1	Deletion (intron variant)	Arterial calcification, generalized, of infancy, 1	GUncertain significance
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 1699962	NM_006208.3(ENPP1):c.1094del (p.Pro365fs)	ENPP1 (P365fs)	Deletion (frameshift variant)	Arterial calcification, generalized, of infancy, 1	GPathogenic
Select item 1699961	NM_006208.3:c.(1091+1_1092-1)_(1164+1_1165-1)del	ENPP1	Deletion	Arterial calcification, generalized, of infancy, 1	GPathogenic
Select item 1699960	NM_006208.3(ENPP1):c.796G>A (p.Gly266Arg)	ENPP1 (G266R)	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 1	GLikely pathogenic
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 1699958	NM_006208.3(ENPP1):c.570G>T (p.Trp190Cys)	ENPP1 (W190C)	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 1	GUncertain significance
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 1699956	NM_006208.3(ENPP1):c.2741T>A (p.Leu914Ter)	ENPP1 (L914*)	Single nucleotide variant (nonsense)	Arterial calcification, generalized, of infancy, 1	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 1034254	NM_006208.3(ENPP1):c.484A>G (p.Ser162Gly)	ENPP1 (S162G)	Single nucleotide variant (missense variant)	ENPP1-related condition +1 more	GUncertain significance
Select item 988599	NM_006208.3(ENPP1):c.556G>C (p.Gly186Arg)	ENPP1	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 1	GPathogenic
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

<< First< Prev

Page of 3