5167[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 154738	GRCh38/hg38 6q22.32-23.2(chr6:126494533-132497855)x1	AKAP7, ARG1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 154269	GRCh38/hg38 6q22.33-23.2(chr6:129191313-132131620)x1	AKAP7, ARG1 +87 more	Copy number loss	See cases	GLikely pathogenic
Select item 1699970	NC_000006.12:g.131688637_132215008del	CCN2, CCN2-AS1 +14 more	Deletion	Arterial calcification, generalized, of infancy, 1	GPathogenic
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 369514	NC_000006.12:g.131808012G>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)	Hypophosphatemic rickets, autosomal recessive, 2 +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 1914138	NM_006208.3(ENPP1):c.1A>G (p.Met1Val)	ENPP1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2909498	NM_006208.3(ENPP1):c.2T>C (p.Met1Thr)	ENPP1 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2761125	NM_006208.3(ENPP1):c.6G>A (p.Glu2=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3088965	NM_006208.3(ENPP1):c.13G>C (p.Gly5Arg)	ENPP1 (G5R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1699967	NM_006208.3(ENPP1):c.26dup (p.Gly10fs)	ENPP1 (G10fs)	Duplication (frameshift variant)	Arterial calcification, generalized, of infancy, 1 +1 more	GPathogenic
Select item 355324	NM_006208.3(ENPP1):c.21G>T (p.Ala7=)	ENPP1	Single nucleotide variant (synonymous variant)	Hypophosphatemic rickets, autosomal recessive, 2 +1 more	GUncertain significance
Select item 1990164	NM_006208.3(ENPP1):c.26G>A (p.Gly9Asp)	ENPP1 (G9D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 193333	NM_006208.3(ENPP1):c.27C>G (p.Gly9=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2983301	NM_006208.3(ENPP1):c.34C>G (p.Arg12Gly)	ENPP1 (R12G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3088972	NM_006208.3(ENPP1):c.46G>A (p.Gly16Ser)	ENPP1 (G16S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1975600	NM_006208.3(ENPP1):c.55G>A (p.Ala19Thr)	ENPP1 (A19T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876863	NM_006208.3(ENPP1):c.58C>T (p.Pro20Ser)	ENPP1 (P20S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015557	NM_006208.3(ENPP1):c.61C>T (p.Arg21Trp)	ENPP1 (R21W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919669	NM_006208.3(ENPP1):c.87C>G (p.Arg29=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635743	NM_006208.3(ENPP1):c.88G>T (p.Asp30Tyr)	ENPP1 (D30Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2756671	NM_006208.3(ENPP1):c.98G>A (p.Arg33His)	ENPP1 (R33H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2604656	NM_006208.3(ENPP1):c.103C>T (p.His35Tyr)	ENPP1 (H35Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2897393	NM_006208.3(ENPP1):c.105C>T (p.His35=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904088	NM_006208.3(ENPP1):c.117G>T (p.Ala39=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2418544	NM_006208.3(ENPP1):c.118C>A (p.Pro40Thr)	ENPP1 (P40T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 744088	NM_006208.3(ENPP1):c.120C>T (p.Pro40=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2701566	NM_006208.3(ENPP1):c.125A>C (p.Asp42Ala)	ENPP1 (D42A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909696	NM_006208.3(ENPP1):c.134C>A (p.Ala45Glu)	ENPP1 (A45E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2186382	NM_006208.3(ENPP1):c.136G>T (p.Ala46Ser)	ENPP1 (A46S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175805	NM_006208.3(ENPP1):c.145T>A (p.Leu49Met)	ENPP1 (L49M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2722084	NM_006208.3(ENPP1):c.149T>C (p.Leu50Pro)	ENPP1 (L50P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 355325	NM_006208.3(ENPP1):c.154C>T (p.Pro52Ser)	ENPP1 (P52S)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, autosomal recessive, 2 +2 more	GConflicting classifications of pathogenicity
Select item 2291516	NM_006208.3(ENPP1):c.155C>T (p.Pro52Leu)	ENPP1 (P52L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1978693	NM_006208.3(ENPP1):c.165G>T (p.Val55=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 355326	NM_006208.3(ENPP1):c.165G>A (p.Val55=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 3020075	NM_006208.3(ENPP1):c.193C>G (p.Arg65Gly)	ENPP1 (R65G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2686042	NM_006208.3(ENPP1):c.195_197delinsAA (p.Ala66fs)	ENPP1 (A66fs)	Indel (frameshift variant)	Hypophosphatemic rickets, autosomal recessive, 2	GLikely pathogenic
Select item 1946749	NM_006208.3(ENPP1):c.197C>T (p.Ala66Val)	ENPP1 (A66V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1492235	NM_006208.3(ENPP1):c.199C>G (p.Arg67Gly)	ENPP1 (R67G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2863803	NM_006208.3(ENPP1):c.200G>A (p.Arg67His)	ENPP1 (R67H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2618960	NM_006208.3(ENPP1):c.203C>A (p.Thr68Asn)	ENPP1 (T68N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1557785	NM_006208.3(ENPP1):c.210G>A (p.Lys70=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2303832	NM_006208.3(ENPP1):c.219C>A (p.Asn73Lys)	ENPP1 (N73K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1936777	NM_006208.3(ENPP1):c.229G>A (p.Val77Ile)	ENPP1 (V77I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1490237	NM_006208.3(ENPP1):c.236C>T (p.Ser79Leu)	ENPP1 (S79L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918200	NM_006208.3(ENPP1):c.240+8C>T	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790949	NM_006208.3(ENPP1):c.240+20C>T	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243410	NM_006208.3(ENPP1):c.241-138C>T	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2873053	NM_006208.3(ENPP1):c.249A>G (p.Ser83=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2771467	NM_006208.3(ENPP1):c.250G>A (p.Val84Ile)	ENPP1 (V84I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3275474	NM_006208.3(ENPP1):c.260T>C (p.Leu87Ser)	ENPP1 (L87S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2858906	NM_006208.3(ENPP1):c.265A>G (p.Thr89Ala)	ENPP1 (T89A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1137414	NM_006208.3(ENPP1):c.273T>G (p.Leu91=)	ENPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3275475	NM_006208.3(ENPP1):c.280A>G (p.Ile94Val)	ENPP1 (I94V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1916654	NM_006208.3(ENPP1):c.282A>G (p.Ile94Met)	ENPP1 (I94M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500980	NM_006208.3(ENPP1):c.288del (p.Gly96_Leu97insTer)	ENPP1	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2231520	NM_006208.3(ENPP1):c.293A>G (p.Lys98Arg)	ENPP1 (K98R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3027245	NM_006208.3(ENPP1):c.301T>C (p.Cys101Arg)	ENPP1 (C101R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1169635	NM_006208.3(ENPP1):c.313+8_313+9dup	ENPP1	Duplication (intron variant)	Arterial calcification, generalized, of infancy, 1 +5 more	GBenign/Likely benign
Select item 1669974	NM_006208.3(ENPP1):c.313+8_313+9insTTGTGTGT	ENPP1	Insertion (intron variant)	not provided +5 more	GLikely benign
Select item 1544455	NM_006208.3(ENPP1):c.313+9_313+11del	ENPP1	Deletion (intron variant)	not provided	GLikely benign
Select item 1403298	NM_006208.3(ENPP1):c.313+9GT[23]	ENPP1	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 1091037	NM_006208.3(ENPP1):c.313+8_313+9insTTGT	ENPP1	Insertion (intron variant)	not provided	GLikely benign
Select item 773201	NM_006208.3(ENPP1):c.313+9GT[21]	ENPP1	Microsatellite (intron variant)	not provided	GBenign
Select item 502431	NM_006208.3(ENPP1):c.313+9_313+15del	ENPP1	Deletion (intron variant)	not specified	GLikely benign
Select item 355331	NM_006208.3(ENPP1):c.313+8_313+9insTTGTGT	ENPP1	Insertion (intron variant)	Hypophosphatemic Rickets, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 355330	NM_006208.3(ENPP1):c.313+8_313+9insTT	ENPP1	Insertion (intron variant)	Hypophosphatemic Rickets, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 355329	NM_006208.3(ENPP1):c.313+9GT[22]	ENPP1	Microsatellite (intron variant)	Hypophosphatemic Rickets, Recessive +2 more	GConflicting classifications of pathogenicity
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 355327	NM_006208.3(ENPP1):c.313+9_313+10insGGTG	ENPP1	Insertion (intron variant)	Hypophosphatemic Rickets, Recessive +2 more	GUncertain significance
Select item 195259	NM_006208.3(ENPP1):c.313+9del	ENPP1	Deletion (intron variant)	not specified	GBenign
Select item 1114458	NM_006208.3(ENPP1):c.313+9GT[15]	ENPP1	Microsatellite (intron variant)	not provided	GLikely benign
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 355336	NM_006208.3(ENPP1):c.313+10T>G	ENPP1	Single nucleotide variant (intron variant)	Hypophosphatemic rickets, autosomal recessive, 2 +2 more	GConflicting classifications of pathogenicity
Select item 195260	NM_006208.3(ENPP1):c.313+10del	ENPP1	Deletion (intron variant)	not provided	GUncertain significance
Select item 1270638	NM_006208.3(ENPP1):c.313+11_313+13del	ENPP1	Deletion (intron variant)	not provided	GBenign
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 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 903941	NM_006208.3(ENPP1):c.313+13G>T	ENPP1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 903942	NM_006208.3(ENPP1):c.313+15G>T	ENPP1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1991802	NM_006208.3(ENPP1):c.313+16T>G	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1094941	NM_006208.3(ENPP1):c.313+17G>T	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1634581	NM_006208.3(ENPP1):c.313+19G>T	ENPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265920	NM_006208.3(ENPP1):c.314-346C>T	ENPP1	Single nucleotide variant (intron variant)	not provided	GBenign

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