ENPP7[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 146403	GRCh38/hg38 17q25.3(chr17:78225356-80099979)x1	TIMP2, TMEM235 +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 3089039	NM_178543.5(ENPP7):c.41C>T (p.Thr14Met)	ENPP7 (T14M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161838	NM_178543.5(ENPP7):c.68C>T (p.Pro23Leu)	ENPP7 (P23L)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2470682	NM_178543.5(ENPP7):c.136G>C (p.Asp46His)	ENPP7 (D46H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089035	NM_178543.5(ENPP7):c.145G>A (p.Val49Met)	ENPP7 (V49M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089036	NM_178543.5(ENPP7):c.194G>A (p.Arg65His)	ENPP7 (R65H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345376	NM_178543.5(ENPP7):c.312G>T (p.Lys104Asn)	ENPP7 (K104N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275507	NM_178543.5(ENPP7):c.364G>A (p.Gly122Ser)	ENPP7 (G122S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089038	NM_178543.5(ENPP7):c.370G>A (p.Val124Met)	ENPP7 (V124M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089040	NM_178543.5(ENPP7):c.464C>T (p.Thr155Met)	ENPP7 (T155M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275509	NM_178543.5(ENPP7):c.521C>T (p.Ala174Val)	ENPP7 (A174V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275506	NM_178543.5(ENPP7):c.634A>G (p.Arg212Gly)	ENPP7 (R212G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089041	NM_178543.5(ENPP7):c.649C>T (p.Arg217Trp)	ENPP7 (R217W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275511	NM_178543.5(ENPP7):c.655G>A (p.Val219Met)	ENPP7 (V219M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089042	NM_178543.5(ENPP7):c.661C>T (p.Arg221Trp)	ENPP7 (R221W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210496	NM_178543.5(ENPP7):c.677T>A (p.Leu226His)	ENPP7 (L226H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459336	NM_178543.5(ENPP7):c.691G>A (p.Ala231Thr)	ENPP7 (A231T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254420	NM_178543.5(ENPP7):c.709G>A (p.Asp237Asn)	ENPP7 (D237N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089043	NM_178543.5(ENPP7):c.718A>G (p.Asn240Asp)	ENPP7 (N240D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275516	NM_178543.5(ENPP7):c.742G>A (p.Gly248Ser)	ENPP7 (G248S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381535	NM_178543.5(ENPP7):c.749C>T (p.Thr250Met)	ENPP7 (T250M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549972	NM_178543.5(ENPP7):c.764G>A (p.Arg255Gln)	ENPP7 (R255Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3089045	NM_178543.5(ENPP7):c.772G>A (p.Asp258Asn)	ENPP7 (D258N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089046	NM_178543.5(ENPP7):c.811C>T (p.Arg271Trp)	ENPP7 (R271W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089047	NM_178543.5(ENPP7):c.845C>T (p.Pro282Leu)	ENPP7 (P282L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275513	NM_178543.5(ENPP7):c.931A>C (p.Lys311Gln)	ENPP7 (K311Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318677	NM_178543.5(ENPP7):c.932A>G (p.Lys311Arg)	ENPP7 (K311R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275514	NM_178543.5(ENPP7):c.946C>A (p.Pro316Thr)	ENPP7 (P316T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255800	NM_178543.5(ENPP7):c.955T>C (p.Phe319Leu)	ENPP7 (F319L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2532802	NM_178543.5(ENPP7):c.964G>A (p.Ala322Thr)	ENPP7 (A322T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613732	NM_178543.5(ENPP7):c.974C>A (p.Pro325His)	ENPP7 (P325H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387705	NM_178543.5(ENPP7):c.998A>G (p.Tyr333Cys)	ENPP7 (Y333C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089030	NM_178543.5(ENPP7):c.1003G>A (p.Asp335Asn)	ENPP7 (D335N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275515	NM_178543.5(ENPP7):c.1101C>T (p.Arg367=)	ENPP7	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2599798	NM_178543.5(ENPP7):c.1102G>A (p.Ala368Thr)	ENPP7 (A368T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275512	NM_178543.5(ENPP7):c.1157A>G (p.His386Arg)	ENPP7 (H386R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648386	NM_178543.5(ENPP7):c.1177C>T (p.Arg393Trp)	ENPP7 (R393W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3275508	NM_178543.5(ENPP7):c.1187G>A (p.Gly396Asp)	ENPP7 (G396D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550478	NM_178543.5(ENPP7):c.1207G>A (p.Asp403Asn)	ENPP7 (D403N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089032	NM_178543.5(ENPP7):c.1217T>C (p.Leu406Pro)	ENPP7 (L406P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3089033	NM_178543.5(ENPP7):c.1219G>C (p.Ala407Pro)	ENPP7 (A407P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089034	NM_178543.5(ENPP7):c.1250C>T (p.Ser417Phe)	ENPP7 (S417F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404109	NM_178543.5(ENPP7):c.1259C>T (p.Pro420Leu)	ENPP7 (P420L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2509093	NM_178543.5(ENPP7):c.1330G>A (p.Val444Met)	ENPP7 (V444M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468571	NM_178543.5(ENPP7):c.1351G>A (p.Val451Met)	ENPP7 (V451M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2354891	NM_178543.5(ENPP7):c.1372G>A (p.Ala458Thr)	ENPP7 (A458T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242941	NC_000017.10:g.(?_76109229)_(78367298_?)dup	AFMID, BIRC5 +29 more	Duplication	Idiopathic generalized epilepsy	GUncertain significance
Select item 2426801	NC_000017.10:g.(?_76851749)_(78367298_?)dup	C1QTNF1, CANT1 +16 more	Duplication	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 1526588	GRCh37/hg19 17q25.3(chr17:77641336-79465235)	AATK, BAHCC1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 686505	GRCh37/hg19 17q25.3(chr17:77067571-77979203)x3	CBX2, CBX4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 395515	GRCh37/hg19 17q25.3(chr17:77679924-78559726)x3	CARD14, CBX2 +13 more	Copy number gain	See cases	GUncertain significance

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Items: 66