"PreventionGenetics, part of Exact Sciences"[submitter] AND "ENPP1"[ge - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 369514	NM_006208.3(ENPP1):c.-24G>C	ENPP1	Single nucleotide variant	Arterial calcification, generalized, of infancy, 1 +2 more	GLikely benign
Select item 285777	NM_006208.3(ENPP1):c.-13G>A	ENPP1	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2635743	NM_006208.3(ENPP1):c.88G>T (p.Asp30Tyr)	ENPP1 (D30Y)	Single nucleotide variant (missense variant)	ENPP1-related disorder +1 more	GUncertain significance
Select item 1492235	NM_006208.3(ENPP1):c.199C>G (p.Arg67Gly)	ENPP1 (R67G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1091037	NM_006208.3(ENPP1):c.313+8_313+9insTTGT	ENPP1	Insertion (intron variant)	ENPP1-related disorder +1 more	GLikely benign
Select item 195260	NM_006208.3(ENPP1):c.313+10del	ENPP1	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1034254	NM_006208.3(ENPP1):c.484A>G (p.Ser162Gly)	ENPP1 (S162G)	Single nucleotide variant (missense variant)	ENPP1-related disorder +1 more	GUncertain significance
Select item 13589	NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln)	ENPP1 (K173Q)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 2 +6 more	GBenign
Select item 722482	NM_006208.3(ENPP1):c.522C>T (p.Gly174=)	ENPP1	Single nucleotide variant (synonymous variant)	Arterial calcification, generalized, of infancy, 1 +3 more	GConflicting classifications of pathogenicity
Select item 2331323	NM_006208.3(ENPP1):c.523G>A (p.Asp175Asn)	ENPP1 (D175N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2635836	NM_006208.3(ENPP1):c.556+2T>G	ENPP1	Single nucleotide variant (splice donor variant)	ENPP1-related disorder	GLikely pathogenic
Select item 708715	NM_006208.3(ENPP1):c.556+8G>T	ENPP1	Single nucleotide variant (intron variant)	ENPP1-related disorder +1 more	GLikely benign
Select item 2580630	NM_006208.3(ENPP1):c.583T>C (p.Cys195Arg)	ENPP1 (C195R)	Single nucleotide variant (missense variant)	ENPP1-related disorder +1 more	GLikely pathogenic
Select item 1721134	NM_006208.3(ENPP1):c.898T>A (p.Trp300Arg)	ENPP1 (W300R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 +2 more	GPathogenic
Select item 355342	NM_006208.3(ENPP1):c.1540T>C (p.Leu514=)	ENPP1	Single nucleotide variant (synonymous variant)	Hypophosphatemic rickets, autosomal recessive, 2 +3 more	GConflicting classifications of pathogenicity
Select item 2012845	NM_006208.3(ENPP1):c.1636-9G>A	ENPP1	Single nucleotide variant (intron variant)	ENPP1-related disorder +1 more	GLikely benign
Select item 3061114	NM_006208.3(ENPP1):c.1701del (p.Ile567fs)	ENPP1 (I567fs)	Deletion (frameshift variant)	ENPP1-related disorder	GLikely pathogenic
Select item 2509330	NM_006208.3(ENPP1):c.2007C>A (p.Asn669Lys)	ENPP1 (N669K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 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 2180444	NM_006208.3(ENPP1):c.2321G>A (p.Arg774His)	ENPP1 (R774H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 284854	NM_006208.3(ENPP1):c.2335A>C (p.Thr779Pro)	ENPP1 (T779P)	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 1 +4 more	GBenign
Select item 435061	NM_006208.3(ENPP1):c.2336C>A (p.Thr779Asn)	ENPP1 (T779N)	Single nucleotide variant (missense variant)	ENPP1-related disorder +4 more	GConflicting classifications of pathogenicity
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 788102	NM_006208.3(ENPP1):c.2462G>A (p.Arg821His)	ENPP1 (R821H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2183460	NM_006208.3(ENPP1):c.2643G>A (p.Leu881=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 195885	NM_006208.3(ENPP1):c.2657G>C (p.Arg886Thr)	ENPP1 (R886T)	Single nucleotide variant (missense variant)	Arterial calcification, generalized, of infancy, 1 +5 more	GConflicting classifications of pathogenicity
Select item 1984229	NM_006208.3(ENPP1):c.2740T>C (p.Leu914=)	ENPP1	Single nucleotide variant (synonymous variant)	ENPP1-related disorder +1 more	GLikely benign
Select item 355354	NM_006208.3(ENPP1):c.2757A>T (p.Pro919=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3059279	NM_006208.3(ENPP1):c.*6T>C	ENPP1	Single nucleotide variant (3 prime UTR variant)	ENPP1-related disorder	GLikely benign

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Items: 31