C4551985[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1169635	NM_006208.3(ENPP1):c.313+8_313+9dup	ENPP1	Duplication (intron variant)	ENPP1-related disorder +6 more	GBenign/Likely benign
Select item 1669974	NM_006208.3(ENPP1):c.313+8_313+9insTTGTGTGT	ENPP1	Insertion (intron variant)	Arterial calcification, generalized, of infancy, 1 +5 more	GLikely benign
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 1409337	NM_006208.3(ENPP1):c.595A>G (p.Asn199Asp)	ENPP1 (N199D)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 2 +5 more	GUncertain significance
Select item 905829	NM_006208.3(ENPP1):c.614C>A (p.Ala205Glu)	ENPP1 (A205E)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 953229	NM_006208.3(ENPP1):c.626C>T (p.Thr209Met)	ENPP1 (T209M)	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 1 +5 more	GUncertain significance
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 717550	NM_006208.3(ENPP1):c.750G>A (p.Pro250=)	ENPP1	Single nucleotide variant (synonymous variant)	Arterial calcification, generalized, of infancy, 1 +5 more	GLikely benign
Select item 1674352	NM_006208.3(ENPP1):c.795+12A>G	ENPP1	Single nucleotide variant (intron variant)	Arterial calcification, generalized, of infancy, 1 +5 more	GLikely benign
Select item 783000	NM_006208.3(ENPP1):c.1274-5C>T	ENPP1	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +5 more	GLikely benign
Select item 1397275	NM_006208.3(ENPP1):c.1352A>G (p.Tyr451Cys)	ENPP1 (Y451C)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 846125	NM_006208.3(ENPP1):c.1437+3_1437+6del	ENPP1	Deletion (splice donor variant)	not provided +5 more	GUncertain significance
Select item 284959	NM_006208.3(ENPP1):c.1437+9_1437+12del	ENPP1	Deletion (intron variant)	not specified +6 more	GBenign/Likely 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 355344	NM_006208.3(ENPP1):c.1798T>C (p.Tyr600His)	ENPP1 (Y600H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 355346	NM_006208.3(ENPP1):c.2089G>A (p.Val697Met)	ENPP1 (V697M)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 2 +5 more	GUncertain significance
Select item 355352	NM_006208.3(ENPP1):c.2236A>C (p.Asn746His)	ENPP1 (N746H)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 2 +6 more	GConflicting classifications of pathogenicity
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 1529764	NM_006208.3(ENPP1):c.2311+8A>G	ENPP1	Single nucleotide variant (intron variant)	Hypopigmentation-punctate palmoplantar keratoderma syndrome +5 more	GLikely benign
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 1179191	NM_006208.3(ENPP1):c.2344C>T (p.Arg782Ter)	ENPP1 (R782*)	Single nucleotide variant (nonsense)	ENPP1-related disorder +6 more	GPathogenic
Select item 904076	NM_006208.3(ENPP1):c.2380G>A (p.Val794Ile)	ENPP1 (V794I)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 2 +6 more	GUncertain significance
Select item 1101510	NM_006208.3(ENPP1):c.2445-5T>C	ENPP1	Single nucleotide variant (intron variant)	ENPP1-related disorder +6 more	GLikely benign
Select item 445386	NM_006208.3(ENPP1):c.2608-1G>A	ENPP1	Single nucleotide variant (splice acceptor variant)	Arterial calcification, generalized, of infancy, 1 +5 more	GLikely pathogenic
Select item 281457	NM_006208.3(ENPP1):c.2633T>C (p.Val878Ala)	ENPP1 (V878A)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 904142	NM_006208.3(ENPP1):c.*128C>T	ENPP1	Single nucleotide variant (3 prime UTR variant)	Hypophosphatemic rickets, autosomal recessive, 2 +4 more	GUncertain significance

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Items: 26