"GeneDx"[submitter] AND "ENPP1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1174303	NC_000006.12:g.131807700C>T	ENPP1	Single nucleotide variant	not provided	GBenign
Select item 1196216	NC_000006.12:g.131807832C>T	ENPP1	Single nucleotide variant	not provided	GLikely benign
Select item 1321532	NC_000006.12:g.131807976G>A	ENPP1	Single nucleotide variant	not provided	GLikely benign
Select item 1203952	NC_000006.12:g.131808001G>T	ENPP1	Single nucleotide variant	not provided	GLikely benign
Select item 285777	NM_006208.3(ENPP1):c.-13G>A	ENPP1	Single nucleotide variant (5 prime UTR variant)	Arterial calcification, generalized, of infancy, 1 +2 more	GConflicting classifications of pathogenicity
Select item 193334	NM_006208.3(ENPP1):c.-10C>T	ENPP1	Single nucleotide variant (5 prime UTR variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1243410	NM_006208.3(ENPP1):c.241-138C>T	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 773201	NM_006208.3(ENPP1):c.313+9GT[21]	ENPP1	Microsatellite (intron variant)	not provided	GBenign
Select item 355328	NM_006208.3(ENPP1):c.313+9GT[20]	ENPP1	Microsatellite (intron variant)	Hypophosphatemic Rickets, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 355335	NM_006208.3(ENPP1):c.313+9G>T	ENPP1	Single nucleotide variant (intron variant)	Hypophosphatemic rickets, autosomal recessive, 2 +2 more	GBenign
Select item 355334	NM_006208.3(ENPP1):c.313+9GT[16]	ENPP1	Microsatellite (intron variant)	Hypophosphatemic Rickets, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 355333	NM_006208.3(ENPP1):c.313+9GT[17]	ENPP1	Microsatellite (intron variant)	Arterial calcification, generalized, of infancy, 1 +3 more	GConflicting classifications of pathogenicity
Select item 355332	NM_006208.3(ENPP1):c.313+9GT[18]	ENPP1	Microsatellite (intron variant)	Hypophosphatemic Rickets, Recessive +2 more	GBenign
Select item 1270638	NM_006208.3(ENPP1):c.313+11_313+13del	ENPP1	Deletion (intron variant)	not provided	GBenign
Select item 1265920	NM_006208.3(ENPP1):c.314-346C>T	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215260	NM_006208.3(ENPP1):c.314-124C>G	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253375	NM_006208.3(ENPP1):c.314-64G>A	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2430746	NM_006208.3(ENPP1):c.359G>C (p.Cys120Ser)	ENPP1 (C120S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1264864	NM_006208.3(ENPP1):c.431-95T>C	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251269	NM_006208.3(ENPP1):c.556+197T>C	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244855	NM_006208.3(ENPP1):c.556+231G>A	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285796	NM_006208.3(ENPP1):c.556+236C>T	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2580630	NM_006208.3(ENPP1):c.583T>C (p.Cys195Arg)	ENPP1 (C195R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1676894	NM_006208.3(ENPP1):c.617+62T>C	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165642	NM_006208.3(ENPP1):c.618-20T>G	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1241412	NM_006208.3(ENPP1):c.715+146G>A	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1076487	NM_006208.3(ENPP1):c.749C>T (p.Pro250Leu)	ENPP1 (P250L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1247172	NM_006208.3(ENPP1):c.795+141T>C	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252175	NM_006208.3(ENPP1):c.796-219A>T	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1676895	NM_006208.3(ENPP1):c.796-40G>A	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1526268	NM_006208.3(ENPP1):c.796-2A>G	ENPP1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 29842	NM_006208.3(ENPP1):c.913C>A (p.Pro305Thr)	ENPP1 (P305T)	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 1 +1 more	GPathogenic
Select item 1272035	NM_006208.3(ENPP1):c.915+27T>G	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241720	NM_006208.3(ENPP1):c.916-151A>G	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2446489	NM_006208.3(ENPP1):c.939A>C (p.Gln313His)	ENPP1 (Q313H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256847	NM_006208.3(ENPP1):c.1025+71T>C	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1712225	NM_006208.3(ENPP1):c.1025+192G>A	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220660	NM_006208.3(ENPP1):c.1025+234G>A	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224619	NM_006208.3(ENPP1):c.1025+268C>A	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211488	NM_006208.3(ENPP1):c.1025+291C>T	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1526269	NM_006208.3(ENPP1):c.1028C>A (p.Ser343Ter)	ENPP1 (S343*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1230821	NM_006208.3(ENPP1):c.1091+35C>T	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202560	NM_006208.3(ENPP1):c.1091+76C>A	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286204	NM_006208.3(ENPP1):c.1091+131G>A	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281217	NM_006208.3(ENPP1):c.1164+222C>G	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290606	NM_006208.3(ENPP1):c.1164+234A>G	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209196	NM_006208.3(ENPP1):c.1165-287A>G	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269027	NM_006208.3(ENPP1):c.1165-210T>C	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212262	NM_006208.3(ENPP1):c.1165-103C>G	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188673	NM_006208.3(ENPP1):c.1165-99G>C	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233789	NM_006208.3(ENPP1):c.1165-76del	ENPP1	Deletion (intron variant)	not provided	GBenign
Select item 1342089	NM_006208.3(ENPP1):c.1273+70A>T	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200215	NM_006208.3(ENPP1):c.1274-191G>A	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227972	NM_006208.3(ENPP1):c.1274-94C>T	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 355340	NM_006208.3(ENPP1):c.1317A>G (p.Lys439=)	ENPP1	Single nucleotide variant (synonymous variant)	Hypophosphatemic rickets, autosomal recessive, 2 +2 more	GBenign
Select item 355341	NM_006208.3(ENPP1):c.1329T>C (p.Asp443=)	ENPP1	Single nucleotide variant (synonymous variant)	Hypophosphatemic rickets, autosomal recessive, 2 +2 more	GBenign
Select item 1295919	NM_006208.3(ENPP1):c.1405+235C>T	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245982	NM_006208.3(ENPP1):c.1405+236A>G	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190651	NM_006208.3(ENPP1):c.1406-255A>G	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253666	NM_006208.3(ENPP1):c.1406-216A>T	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271988	NM_006208.3(ENPP1):c.1437+154A>C	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261178	NM_006208.3(ENPP1):c.1438-110A>G	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1327224	NM_006208.3(ENPP1):c.1438-26T>C	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2035229	NM_006208.3(ENPP1):c.1438-3C>G	ENPP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1259169	NM_006208.3(ENPP1):c.1565+236C>G	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191319	NM_006208.3(ENPP1):c.1565+283C>T	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288211	NM_006208.3(ENPP1):c.1565+290G>A	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 355343	NM_006208.3(ENPP1):c.1566-14T>C	ENPP1	Single nucleotide variant (intron variant)	Hypophosphatemic rickets, autosomal recessive, 2 +2 more	GBenign
Select item 1251051	NM_006208.3(ENPP1):c.1636-254dup	ENPP1	Duplication (intron variant)	not provided	GBenign
Select item 1262122	NM_006208.3(ENPP1):c.1636-202A>C	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286904	NM_006208.3(ENPP1):c.1636-58G>T	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 853191	NM_006208.3(ENPP1):c.1735T>G (p.Leu579Val)	ENPP1 (L579V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 161093	NM_006208.3(ENPP1):c.1831C>G (p.Leu611Val)	ENPP1 (L611V)	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 1 +3 more	GBenign/Likely benign
Select item 1242571	NM_006208.3(ENPP1):c.1893+57T>C	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232555	NM_006208.3(ENPP1):c.1893+127T>A	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264977	NM_006208.3(ENPP1):c.1893+141G>A	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277587	NM_006208.3(ENPP1):c.1893+210C>T	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220807	NM_006208.3(ENPP1):c.1893+271C>T	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288339	NM_006208.3(ENPP1):c.1893+272G>A	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183422	NM_006208.3(ENPP1):c.1894-279A>G	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230852	NM_006208.3(ENPP1):c.1894-204C>G	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288908	NM_006208.3(ENPP1):c.1894-123A>G	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223986	NM_006208.3(ENPP1):c.1894-67G>A	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289363	NM_006208.3(ENPP1):c.1945+246C>T	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261636	NM_006208.3(ENPP1):c.1945+310G>C	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220667	NM_006208.3(ENPP1):c.1946-325C>A	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225943	NM_006208.3(ENPP1):c.1946-94A>G	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 161094	NM_006208.3(ENPP1):c.2002G>A (p.Glu668Lys)	ENPP1 (E668K)	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 1 +3 more	GBenign/Likely benign
Select item 1234170	NM_006208.3(ENPP1):c.2101-313AATA[8]	ENPP1	Microsatellite (intron variant)	not provided	GBenign
Select item 1222278	NM_006208.3(ENPP1):c.2101-286_2101-285insAAAA	ENPP1	Insertion (intron variant)	not provided	GBenign
Select item 1198670	NM_006208.3(ENPP1):c.2101-215G>A	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230336	NM_006208.3(ENPP1):c.2101-53A>G	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 355347	NM_006208.3(ENPP1):c.2101-11del	ENPP1	Deletion (intron variant)	Hypophosphatemic rickets, autosomal recessive, 2 +5 more	GBenign
Select item 355348	NM_006208.3(ENPP1):c.2101-10del	ENPP1	Deletion (intron variant)	Hypophosphatemic Rickets, Recessive +2 more	GBenign/Likely benign
Select item 355349	NM_006208.3(ENPP1):c.2106T>C (p.Ser702=)	ENPP1	Single nucleotide variant (synonymous variant)	Hypophosphatemic rickets, autosomal recessive, 2 +2 more	GBenign/Likely benign
Select item 355350	NM_006208.3(ENPP1):c.2124C>A (p.Phe708Leu)	ENPP1 (F708L)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 2 +2 more	GBenign/Likely benign
Select item 1217967	NM_006208.3(ENPP1):c.2230+28C>A	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277451	NM_006208.3(ENPP1):c.2230+128TA[3]	ENPP1	Microsatellite (intron variant)	not provided	GBenign
Select item 1221514	NM_006208.3(ENPP1):c.2230+177_2230+178del	ENPP1	Deletion (intron variant)	not provided	GBenign
Select item 1280749	NM_006208.3(ENPP1):c.2231-209C>G	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign

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