| NM_006208.3(ENPP1):c.*1043A>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000280683]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000372927]|Obesity [RCV000022719] |
Chr6:131891554 [GRCh38]
Chr6:132212694 [GRCh37]
Chr6:6q23.2 |
risk factor|benign |
| NM_006208.3(ENPP1):c.913C>A (p.Pro305Thr) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000022720]|Arterial calcification, generalized, of infancy, 1 [RCV005031451]|ENPP1-related disorder [RCV004532398]|not provided [RCV001576453] |
Chr6:131860504 [GRCh38]
Chr6:132181644 [GRCh37]
Chr6:6q23.2 |
pathogenic|uncertain significance |
| NM_006208.3(ENPP1):c.1612G>C (p.Asp538His) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000022721] |
Chr6:131874314 [GRCh38]
Chr6:132195454 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.795+1G>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000022722]|not provided [RCV003144111] |
Chr6:131858748 [GRCh38]
Chr6:132179888 [GRCh37]
Chr6:6q23.2 |
pathogenic|likely pathogenic |
| ENPP1, GLY586ARG |
variation |
Arterial calcification of infancy [RCV000022723] |
Chr6:6q22-q23 |
pathogenic |
| ENPP1, IVS20AS, 1-BP DEL, T, -11 |
deletion |
Diabetes mellitus type 2, susceptibility to [RCV000014552]|Obesity [RCV000033196] |
Chr6:6q22-q23 |
risk factor|likely benign |
| NM_006208.3(ENPP1):c.2677G>T (p.Glu893Ter) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000014554]|not provided [RCV004808550] |
Chr6:131890410 [GRCh38]
Chr6:132211550 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000014555]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000394923]|Type 2 diabetes mellitus [RCV002226647]|not provided [RCV001512633]|not specified [RCV000176409] |
Chr6:131884939 [GRCh38]
Chr6:132206079 [GRCh37]
Chr6:6q23.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006208.3(ENPP1):c.1072_1082del (p.Gln358fs) |
deletion |
Arterial calcification, generalized, of infancy, 1 [RCV000014556] |
Chr6:131864551..131864561 [GRCh38]
Chr6:132185691..132185701 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.1737G>C (p.Leu579Phe) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000014557] |
Chr6:131877005 [GRCh38]
Chr6:132198145 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000355961]|Arterial calcification, generalized, of infancy, 1 [RCV005394151]|Diabetes mellitus type 2, susceptibility to [RCV001255136]|ENPP1-related disorder [RCV004541005]|Hypophosphatemic rickets [RCV001843453]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000265863]|Hypopigmentation-punctate palmoplantar keratoderma syndrome [RCV001659696]|Insulin resistance, susceptibility to [RCV000014558]|Obesity [RCV000033192]|Type 2 diabetes mellitus [RCV002226648]|not provided [RCV001515718]|not specified [RCV000178259] |
Chr6:131851228 [GRCh38]
Chr6:132172368 [GRCh37]
Chr6:6q23.2 |
likely pathogenic|risk factor|association|benign|no classifications from unflagged records |
| NM_006208.3(ENPP1):c.1025G>T (p.Gly342Val) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000014560]|Coronary sclerosis, medial, of infancy [RCV000853319]|not provided [RCV001851855] |
Chr6:131861704 [GRCh38]
Chr6:132182844 [GRCh37]
Chr6:6q23.2 |
pathogenic|likely pathogenic |
| NM_006208.3(ENPP1):c.1112A>T (p.Tyr371Phe) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000014561] |
Chr6:131864886 [GRCh38]
Chr6:132186026 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.2444+702_*868del |
deletion |
Hypophosphatemic rickets, autosomal recessive, 2 [RCV000014562] |
Chr6:131885763..131891377 [GRCh38]
Chr6:132206903..132212517 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.797G>T (p.Gly266Val) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000014564]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000014563] |
Chr6:131860388 [GRCh38]
Chr6:132181528 [GRCh37]
Chr6:6q23.2 |
pathogenic|likely pathogenic |
| NM_006208.3(ENPP1):c.2248dup (p.Ser750fs) |
duplication |
Hypophosphatemic rickets, autosomal recessive, 2 [RCV000014565] |
Chr6:131883709..131883710 [GRCh38]
Chr6:132204849..132204850 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.783C>G (p.Tyr261Ter) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000014567]|ENPP1-related disorder [RCV004734519]|not provided [RCV001044349] |
Chr6:131858735 [GRCh38]
Chr6:132179875 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.878_879del (p.Lys293fs) |
deletion |
Arterial calcification, generalized, of infancy, 1 [RCV000014568] |
Chr6:131860468..131860469 [GRCh38]
Chr6:132181608..132181609 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.2702A>C (p.Tyr901Ser) |
single nucleotide variant |
Hypophosphatemic rickets, autosomal recessive, 2 [RCV000014566] |
Chr6:131890435 [GRCh38]
Chr6:132211575 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.530G>A (p.Cys177Tyr) |
single nucleotide variant |
Hypopigmentation-punctate palmoplantar keratoderma syndrome [RCV000074401] |
Chr6:131851241 [GRCh38]
Chr6:132172381 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1 |
copy number loss |
See cases [RCV000051196] |
Chr6:108944899..132067720 [GRCh38]
Chr6:109266102..132388860 [GRCh37]
Chr6:109372795..132430553 [NCBI36]
Chr6:6q21-23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.-10C>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001154492]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001154491]|not provided [RCV001547684]|not specified [RCV000173399] |
Chr6:131808026 [GRCh38]
Chr6:132129166 [GRCh37]
Chr6:6q23.2 |
benign|likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.323G>T (p.Cys108Phe) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000660585] |
Chr6:131849999 [GRCh38]
Chr6:132171139 [GRCh37]
Chr6:6q23.2 |
likely pathogenic |
| NM_006208.3(ENPP1):c.491G>C (p.Cys164Ser) |
single nucleotide variant |
Hypopigmentation-punctate palmoplantar keratoderma syndrome [RCV000074402] |
Chr6:131851202 [GRCh38]
Chr6:132172342 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.446G>C (p.Cys149Ser) |
single nucleotide variant |
Hypopigmentation-punctate palmoplantar keratoderma syndrome [RCV000074403] |
Chr6:131851157 [GRCh38]
Chr6:132172297 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.2657G>C (p.Arg886Thr) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000369243]|ENPP1-related disorder [RCV004537408]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000333261]|Type 2 diabetes mellitus [RCV002226692]|not provided [RCV000954668]|not specified [RCV000176564] |
Chr6:131890390 [GRCh38]
Chr6:132211530 [GRCh37]
Chr6:6q23.2 |
benign|likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.313+9del |
deletion |
not provided [RCV001572677]|not specified [RCV000175820] |
Chr6:131847856 [GRCh38]
Chr6:132168996 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.939A>C (p.Gln313His) |
single nucleotide variant |
not provided [RCV003159319] |
Chr6:131861618 [GRCh38]
Chr6:132182758 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.27C>G (p.Gly9=) |
single nucleotide variant |
not provided [RCV000173398] |
Chr6:131808062 [GRCh38]
Chr6:132129202 [GRCh37]
Chr6:6q23.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006208.3(ENPP1):c.1056T>G (p.Ala352=) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001155436]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001155435]|not provided [RCV000173822] |
Chr6:131864536 [GRCh38]
Chr6:132185676 [GRCh37]
Chr6:6q23.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006208.3(ENPP1):c.1791T>C (p.Asn597=) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001151670]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001154709]|not provided [RCV000175320] |
Chr6:131877059 [GRCh38]
Chr6:132198199 [GRCh37]
Chr6:6q23.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 |
copy number gain |
See cases [RCV000139729] |
Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1 |
pathogenic |
| GRCh38/hg38 6q22.33-23.2(chr6:129191313-132131620)x1 |
copy number loss |
See cases [RCV000142349] |
Chr6:129191313..132131620 [GRCh38]
Chr6:129512458..132452760 [GRCh37]
Chr6:129554151..132494453 [NCBI36]
Chr6:6q22.33-23.2 |
likely pathogenic |
| NM_006208.3(ENPP1):c.1831C>G (p.Leu611Val) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000202480]|Hypophosphatemic rickets [RCV001843482]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000305235]|not provided [RCV000968099]|not specified [RCV000733937] |
Chr6:131877099 [GRCh38]
Chr6:132198239 [GRCh37]
Chr6:6q23.2 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|no classifications from unflagged records |
| NM_006208.3(ENPP1):c.2002G>A (p.Glu668Lys) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000202530]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000366414]|not provided [RCV000968100]|not specified [RCV000733934] |
Chr6:131879936 [GRCh38]
Chr6:132201076 [GRCh37]
Chr6:6q23.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| GRCh38/hg38 6q22.32-23.2(chr6:126494533-132497855)x1 |
copy number loss |
See cases [RCV000142805] |
Chr6:126494533..132497855 [GRCh38]
Chr6:126815679..132818994 [GRCh37]
Chr6:126857372..132860687 [NCBI36]
Chr6:6q22.32-23.2 |
likely pathogenic |
| NM_006208.3(ENPP1):c.313+10del |
deletion |
ENPP1-related disorder [RCV004537389]|not provided [RCV000175821] |
Chr6:131847858 [GRCh38]
Chr6:132168998 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.2661A>G (p.Ala887=) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000260736]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000315962]|not provided [RCV001515719] |
Chr6:131890394 [GRCh38]
Chr6:131890394..131890395 [GRCh38]
Chr6:132211534 [GRCh37]
Chr6:132211534..132211535 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.*3163C>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000263618]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000300190] |
Chr6:131893674 [GRCh38]
Chr6:132214814 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.*3176T>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000259938]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000355016] |
Chr6:131893687 [GRCh38]
Chr6:132214827 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.-13G>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000285163]|ENPP1-related disorder [RCV004535355]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000342615]|not provided [RCV000278464] |
Chr6:131808023 [GRCh38]
Chr6:132129163 [GRCh37]
Chr6:6q23.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006208.3(ENPP1):c.2608-1G>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005004205]|not provided [RCV000513679] |
Chr6:131890340 [GRCh38]
Chr6:132211480 [GRCh37]
Chr6:6q23.2 |
likely pathogenic |
| NM_006208.3(ENPP1):c.1136G>T (p.Gly379Val) |
single nucleotide variant |
not provided [RCV000722303] |
Chr6:131864910 [GRCh38]
Chr6:132186050 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2106T>C (p.Ser702=) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000278731]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000337040]|not provided [RCV000962164] |
Chr6:131882350 [GRCh38]
Chr6:132203490 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.*3837T>C |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000284533]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000379113] |
Chr6:131894348 [GRCh38]
Chr6:132215488 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.2757A>T (p.Pro919=) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000281165]|ENPP1-related disorder [RCV004544664]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000375180]|not provided [RCV000592971] |
Chr6:131890490 [GRCh38]
Chr6:132211630 [GRCh37]
Chr6:6q23.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006208.3(ENPP1):c.*3784T>C |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000324515]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000270241] |
Chr6:131894295 [GRCh38]
Chr6:132215435 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.2089G>A (p.Val697Met) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000331472]|Arterial calcification, generalized, of infancy, 1 [RCV002480233]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000271852]|not provided [RCV003766044] |
Chr6:131880023 [GRCh38]
Chr6:132201163 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*772A>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000266581]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000359059] |
Chr6:131891283 [GRCh38]
Chr6:132212423 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*1539A>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000358267]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000266665] |
Chr6:131892050 [GRCh38]
Chr6:132213190 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.*699T>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000337253]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000298639] |
Chr6:131891210 [GRCh38]
Chr6:132212350 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.*3625G>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000313700]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000405172] |
Chr6:131894136 [GRCh38]
Chr6:132215276 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.313+10T>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000369343]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000314622]|not provided [RCV002058556] |
Chr6:131847858 [GRCh38]
Chr6:132168998 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.*4636C>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000362140]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000268568] |
Chr6:131895147 [GRCh38]
Chr6:132216287 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.*38G>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000322238]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000376769] |
Chr6:131890549 [GRCh38]
Chr6:132211689 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*485C>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000269641]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000378482] |
Chr6:131890996 [GRCh38]
Chr6:132212136 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*3511T>C |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000341660]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000286555] |
Chr6:131894022 [GRCh38]
Chr6:132215162 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.*4641A>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000359682]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000323729] |
Chr6:131895152 [GRCh38]
Chr6:132216292 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.1317A>G (p.Lys439=) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000387531]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000346960]|not provided [RCV000962163] |
Chr6:131869401 [GRCh38]
Chr6:132190541 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.*735A>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000404764]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000301958] |
Chr6:131891246 [GRCh38]
Chr6:132212386 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.*777C>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000327797]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000270276] |
Chr6:131891288 [GRCh38]
Chr6:132212428 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.*2282G>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000271841]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000364111] |
Chr6:131892793 [GRCh38]
Chr6:132213933 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.*112G>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000288106]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000404885]|not provided [RCV001636982] |
Chr6:131890623 [GRCh38]
Chr6:132211763 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.*772A>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000305438]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000362642] |
Chr6:131891283 [GRCh38]
Chr6:132212423 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.*536T>C |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000383879]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000327018] |
Chr6:131891047 [GRCh38]
Chr6:132212187 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*1240T>C |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000287284]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000378402]|not provided [RCV004695906] |
Chr6:131891751 [GRCh38]
Chr6:132212891 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*96C>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000341873]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000287044] |
Chr6:131890607 [GRCh38]
Chr6:132211747 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*1670T>C |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000288986]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000327739] |
Chr6:131892181 [GRCh38]
Chr6:132213321 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.*3594C>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000338243]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000406061] |
Chr6:131894105 [GRCh38]
Chr6:132215245 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.*1091A>C |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000405247]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000338108] |
Chr6:131891602 [GRCh38]
Chr6:132212742 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.*2900G>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000307375]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000408155] |
Chr6:131893411 [GRCh38]
Chr6:132214551 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.*4346T>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000403739]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000351442] |
Chr6:131894857 [GRCh38]
Chr6:132215997 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*1101G>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000304638]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000343288] |
Chr6:131891612 [GRCh38]
Chr6:132212752 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.*3838G>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000320839]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000375721] |
Chr6:131894349 [GRCh38]
Chr6:132215489 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.802T>C (p.Tyr268His) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000380187]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000321013]|not provided [RCV002520406] |
Chr6:131860393 [GRCh38]
Chr6:132181533 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*3706G>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000368421]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000273677] |
Chr6:131894217 [GRCh38]
Chr6:132215357 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.*698_*699insA |
insertion |
Arterial calcification, generalized, of infancy, 1 [RCV000352506]|Hypophosphatemic Rickets, Recessive [RCV000402821] |
Chr6:131891209..131891210 [GRCh38]
Chr6:132212349..132212350 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.*3271C>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000275098]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000330429] |
Chr6:131893782 [GRCh38]
Chr6:132214922 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.2230+13C>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000405999]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000342729]|not provided [RCV002523548] |
Chr6:131882487 [GRCh38]
Chr6:132203627 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.*2342G>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000332872]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000275275] |
Chr6:131892853 [GRCh38]
Chr6:132213993 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*563G>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000291871]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000349050] |
Chr6:131891074 [GRCh38]
Chr6:132212214 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.2101-10del |
deletion |
Arterial calcification, generalized, of infancy, 1 [RCV000373264]|Hypophosphatemic Rickets, Recessive [RCV000332542]|not provided [RCV000960890] |
Chr6:131882335 [GRCh38]
Chr6:132203475 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.1329T>C (p.Asp443=) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000293021]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000352842]|not provided [RCV000973397] |
Chr6:131869413 [GRCh38]
Chr6:132190553 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.2236A>C (p.Asn746His) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000362563]|Arterial calcification, generalized, of infancy, 1 [RCV002487561]|ENPP1-related disorder [RCV004530432]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000307978]|not provided [RCV001217516] |
Chr6:131883699 [GRCh38]
Chr6:132204839 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.*1122A>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000390615]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000307993] |
Chr6:131891633 [GRCh38]
Chr6:132212773 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.*1559G>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000380989]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000324181] |
Chr6:131892070 [GRCh38]
Chr6:132213210 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.*1137T>C |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000365055]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000396259] |
Chr6:131891648 [GRCh38]
Chr6:132212788 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.*457T>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000355195]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000260342] |
Chr6:131890968 [GRCh38]
Chr6:132212108 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.332G>A (p.Arg111His) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000260657]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000301202]|Inborn genetic diseases [RCV004975477]|not provided [RCV003727713] |
Chr6:131850008 [GRCh38]
Chr6:132171148 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*1221A>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000333979]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000276690] |
Chr6:131891732 [GRCh38]
Chr6:132212872 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*1299C>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000312858]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000404473] |
Chr6:131891810 [GRCh38]
Chr6:132212950 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.*163C>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000313049]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000367685]|not provided [RCV001613178] |
Chr6:131890674 [GRCh38]
Chr6:132211814 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1566-14T>C |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000335328]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000396964]|not provided [RCV001510113] |
Chr6:131874254 [GRCh38]
Chr6:132195394 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.313+9GT[16] |
microsatellite |
Arterial calcification, generalized, of infancy, 1 [RCV000404568]|Hypophosphatemic Rickets, Recessive [RCV000308688]|not provided [RCV000975128] |
Chr6:131847857..131847862 [GRCh38]
Chr6:132168997..132169002 [GRCh37]
Chr6:6q23.2 |
benign|likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.*1499C>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000319839]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000262398] |
Chr6:131892010 [GRCh38]
Chr6:132213150 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*2698G>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000279027]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000389801] |
Chr6:131893209 [GRCh38]
Chr6:132214349 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.*1038T>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000296084]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000334679] |
Chr6:131891549 [GRCh38]
Chr6:132212689 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.*389G>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000314374]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000397976] |
Chr6:131890900 [GRCh38]
Chr6:132212040 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.*2737C>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000374770]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000336398] |
Chr6:131893248 [GRCh38]
Chr6:132214388 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.*637A>C |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000387272]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000295338] |
Chr6:131891148 [GRCh38]
Chr6:132212288 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.165G>A (p.Val55=) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000310553]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000365180]|not provided [RCV001861270] |
Chr6:131808200 [GRCh38]
Chr6:132129340 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.*121G>C |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000347768]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000404499]|not provided [RCV001618643] |
Chr6:131890632 [GRCh38]
Chr6:132211772 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.*467A>C |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000323816]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000263963] |
Chr6:131890978 [GRCh38]
Chr6:132212118 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*2076C>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000338169]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000405728] |
Chr6:131892587 [GRCh38]
Chr6:132213727 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.*1972G>C |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000334744]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000296172] |
Chr6:131892483 [GRCh38]
Chr6:132213623 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.2101-11del |
deletion |
Arterial calcification, generalized, of infancy, 1 [RCV000386044]|Diabetes mellitus type 2, susceptibility to [RCV000014552]|Hypophosphatemic Rickets, Recessive [RCV000296282]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001662330]|Hypopigmentation-punctate palmoplantar keratoderma syndrome [RCV001662331]|Obesity [RCV000033196]|not provided [RCV001510114]|not specified [RCV000611151] |
Chr6:131882331 [GRCh38]
Chr6:132203471 [GRCh37]
Chr6:6q23.2 |
risk factor|benign |
| NM_006208.3(ENPP1):c.*1157C>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000311650]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000368934] |
Chr6:131891668 [GRCh38]
Chr6:131891668..131891669 [GRCh38]
Chr6:132212808 [GRCh37]
Chr6:132212808..132212809 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.*3724C>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000328720]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000364825] |
Chr6:131894235 [GRCh38]
Chr6:132215375 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.*2301A>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000386053]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000329189] |
Chr6:131892812 [GRCh38]
Chr6:132213952 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.*1348T>C |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000369844]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000396557] |
Chr6:131891859 [GRCh38]
Chr6:132212999 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.*4015G>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000281213]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000336169] |
Chr6:131894526 [GRCh38]
Chr6:132215666 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.*1350G>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000354646]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000297712] |
Chr6:131891861 [GRCh38]
Chr6:132213001 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.154C>T (p.Pro52Ser) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000394356]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000364699]|not provided [RCV001850881] |
Chr6:131808189 [GRCh38]
Chr6:132129329 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.*4248G>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000407143]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000296576] |
Chr6:131894759 [GRCh38]
Chr6:132215899 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.*4571G>C |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000311889]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000366620] |
Chr6:131895082 [GRCh38]
Chr6:132216222 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.*910C>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000387695]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000330783] |
Chr6:131891421 [GRCh38]
Chr6:132212561 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.313+9G>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000349493]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000396731]|not provided [RCV001511810] |
Chr6:131847857 [GRCh38]
Chr6:132168997 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.*1960C>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000407200]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000349951] |
Chr6:131892471 [GRCh38]
Chr6:132213611 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1540T>C (p.Leu514=) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000403002]|ENPP1-related disorder [RCV004530431]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000299047]|not provided [RCV002523546] |
Chr6:131873025 [GRCh38]
Chr6:132194165 [GRCh37]
Chr6:6q23.2 |
benign|likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.1798T>C (p.Tyr600His) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000299220]|Arterial calcification, generalized, of infancy, 1 [RCV002487560]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000358813]|Inborn genetic diseases [RCV002520407]|not provided [RCV002523547] |
Chr6:131877066 [GRCh38]
Chr6:132198206 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*1236G>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000318953]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000376017] |
Chr6:131891747 [GRCh38]
Chr6:132212887 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.*3528C>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000283157]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000392301] |
Chr6:131894039 [GRCh38]
Chr6:132215179 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.2124C>A (p.Phe708Leu) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000405055]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000283060]|not provided [RCV000949304] |
Chr6:131882368 [GRCh38]
Chr6:132203508 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.*2036A>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000403388]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000299566] |
Chr6:131892547 [GRCh38]
Chr6:132213687 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.313+9GT[18] |
microsatellite |
Arterial calcification, generalized, of infancy, 1 [RCV000342935]|Hypophosphatemic Rickets, Recessive [RCV000378820]|not provided [RCV001515717] |
Chr6:131847857..131847858 [GRCh38]
Chr6:132168997..132168998 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.*3017C>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000343486]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000390712] |
Chr6:131893528 [GRCh38]
Chr6:132214668 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.313+8_313+9insTT |
insertion |
Arterial calcification, generalized, of infancy, 1 [RCV000318437]|Hypophosphatemic Rickets, Recessive [RCV000263217]|not provided [RCV001453349] |
Chr6:131847856..131847857 [GRCh38]
Chr6:132168996..132168997 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.1946-14T>C |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000270764]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000359994] |
Chr6:131879866 [GRCh38]
Chr6:132201006 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.313+9_313+10insGGTG |
insertion |
Arterial calcification, generalized, of infancy, 1 [RCV000330273]|Hypophosphatemic Rickets, Recessive [RCV000275274]|not provided [RCV001046162] |
Chr6:131847856..131847857 [GRCh38]
Chr6:132168996..132168997 [GRCh37]
Chr6:6q23.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006208.3(ENPP1):c.313+8_313+9insTTGTGT |
insertion |
Arterial calcification, generalized, of infancy, 1 [RCV000283267]|Hypophosphatemic Rickets, Recessive [RCV000377747]|not provided [RCV001444874]|not specified [RCV001731628] |
Chr6:131847856..131847857 [GRCh38]
Chr6:132168996..132168997 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.*2835_*2837del |
deletion |
Arterial calcification, generalized, of infancy, 1 [RCV000340032]|Hypophosphatemic Rickets, Recessive [RCV000282646] |
Chr6:131893344..131893346 [GRCh38]
Chr6:132214484..132214486 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1756G>A (p.Gly586Arg) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000022723]|Arterial calcification, generalized, of infancy, 1 [RCV005044526]|not provided [RCV000378449] |
Chr6:131877024 [GRCh38]
Chr6:132198164 [GRCh37]
Chr6:6q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006208.3(ENPP1):c.*1236_*1238del |
deletion |
Arterial calcification, generalized, of infancy, 1 [RCV000261447]|Hypophosphatemic Rickets, Recessive [RCV000353794]|not provided [RCV004695905] |
Chr6:131891746..131891748 [GRCh38]
Chr6:132212886..132212888 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*888C>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000273345]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000384660] |
Chr6:131891399 [GRCh38]
Chr6:132212539 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2088C>T (p.Thr696=) |
single nucleotide variant |
not provided [RCV000320138] |
Chr6:131880022 [GRCh38]
Chr6:132201162 [GRCh37]
Chr6:6q23.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006208.3(ENPP1):c.313+9GT[20] |
microsatellite |
Arterial calcification, generalized, of infancy, 1 [RCV000276385]|Hypophosphatemic Rickets, Recessive [RCV000370919]|not provided [RCV000948318]|not specified [RCV001731627] |
Chr6:131847856..131847857 [GRCh38]
Chr6:132168996..132168997 [GRCh37]
Chr6:6q23.2 |
benign|uncertain significance |
| NM_006208.3(ENPP1):c.1437+9_1437+12del |
deletion |
Arterial calcification, generalized, of infancy, 1 [RCV002502124]|not provided [RCV000961745]|not specified [RCV000322385] |
Chr6:131872109..131872112 [GRCh38]
Chr6:132193250..132193253 [GRCh37]
Chr6:6q23.2 |
benign|likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.2633T>C (p.Val878Ala) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005003604]|ENPP1-related disorder [RCV004734914]|Inborn genetic diseases [RCV004021077]|not provided [RCV000366895] |
Chr6:131890366 [GRCh38]
Chr6:132211506 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*2130C>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000307068]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000268246] |
Chr6:131892641 [GRCh38]
Chr6:132213781 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.21G>T (p.Ala7=) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000302949]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000394364] |
Chr6:131808056 [GRCh38]
Chr6:132129196 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1296G>C (p.Lys432Asn) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000326770]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000292025] |
Chr6:131869380 [GRCh38]
Chr6:132190520 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*2129T>C |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000360599]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000303079] |
Chr6:131892640 [GRCh38]
Chr6:132213780 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*3126C>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000303770]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000358454] |
Chr6:131893637 [GRCh38]
Chr6:132214777 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*1795A>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000384569]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000292672] |
Chr6:131892306 [GRCh38]
Chr6:132213446 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.313+9GT[22] |
microsatellite |
Arterial calcification, generalized, of infancy, 1 [RCV000317417]|Hypophosphatemic Rickets, Recessive [RCV000371891]|not provided [RCV001516644] |
Chr6:131847856..131847857 [GRCh38]
Chr6:132168996..132168997 [GRCh37]
Chr6:6q23.2 |
benign|uncertain significance |
| NM_006208.3(ENPP1):c.*3242TTCTT[4] |
microsatellite |
Arterial calcification, generalized, of infancy, 1 [RCV000333912]|Hypophosphatemic Rickets, Recessive [RCV000388434] |
Chr6:131893751..131893752 [GRCh38]
Chr6:132214891..132214892 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.*1256dup |
duplication |
Arterial calcification, generalized, of infancy, 1 [RCV000283873]|Hypophosphatemic Rickets, Recessive [RCV000321419] |
Chr6:131891748..131891749 [GRCh38]
Chr6:132212888..132212889 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*4586G>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000404113]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000307454] |
Chr6:131895097 [GRCh38]
Chr6:132216237 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*3615dup |
duplication |
Arterial calcification, generalized, of infancy, 1 [RCV000298017]|Hypophosphatemic Rickets, Recessive [RCV000353447] |
Chr6:131894120..131894121 [GRCh38]
Chr6:132215260..132215261 [GRCh37]
Chr6:6q23.2 |
benign |
| NC_000006.12:g.131808012G>C |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000273887]|ENPP1-related disorder [RCV004544720]|Hypophosphatemic Rickets, Recessive [RCV000319599]|not provided [RCV004705518] |
Chr6:131808012 [GRCh38]
Chr6:132129152 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2449AGA[1] (p.Arg818del) |
microsatellite |
not provided [RCV001052058] |
Chr6:131886565..131886567 [GRCh38]
Chr6:132207705..132207707 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.313+9GT[17] |
microsatellite |
Arterial calcification, generalized, of infancy, 1 [RCV000343673]|Hypophosphatemic Rickets, Recessive [RCV000289088]|not provided [RCV000950717]|not specified [RCV000502880] |
Chr6:131847857..131847860 [GRCh38]
Chr6:132168997..132169000 [GRCh37]
Chr6:6q23.2 |
benign|likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.*3450T>C |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000326833]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000381054] |
Chr6:131893961 [GRCh38]
Chr6:132215101 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*3468del |
deletion |
Arterial calcification, generalized, of infancy, 1 [RCV000384940]|Hypophosphatemic Rickets, Recessive [RCV000290507] |
Chr6:131893950 [GRCh38]
Chr6:132215090 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*1290T>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000347954]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000290766] |
Chr6:131891801 [GRCh38]
Chr6:132212941 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*459G>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000358699]|Hypophosphatemic Rickets, Recessive [RCV000301486] |
Chr6:131890970 [GRCh38]
Chr6:132212110 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*1257del |
deletion |
Arterial calcification, generalized, of infancy, 1 [RCV000344604]|Hypophosphatemic Rickets, Recessive [RCV000392726] |
Chr6:131891768 [GRCh38]
Chr6:132212908 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*3885C>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001157941]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001152472] |
Chr6:131894396 [GRCh38]
Chr6:132215536 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| GRCh37/hg19 6q23.2(chr6:131703293-132212694)x3 |
copy number gain |
See cases [RCV000599566] |
Chr6:131703293..132212694 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.313+9_313+15del |
deletion |
not specified [RCV000596494] |
Chr6:131847856..131847862 [GRCh38]
Chr6:132168997..132169003 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2624C>T (p.Ser875Phe) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001153012]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001153013]|not provided [RCV000731904] |
Chr6:131890357 [GRCh38]
Chr6:132211497 [GRCh37]
Chr6:6q23.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 6q23.2(chr6:131624204-132219490)x3 |
copy number gain |
See cases [RCV000447116] |
Chr6:131624204..132219490 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1652A>G (p.Tyr551Cys) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000679979]|Dystonia 28, childhood-onset [RCV004813131]|not provided [RCV001233251] |
Chr6:131875792 [GRCh38]
Chr6:132196932 [GRCh37]
Chr6:6q23.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006208.3(ENPP1):c.2330A>G (p.His777Arg) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000679980]|Arterial calcification, generalized, of infancy, 1 [RCV005004359]|Inborn genetic diseases [RCV004619377]|not provided [RCV002532187]|not specified [RCV003403571] |
Chr6:131884949 [GRCh38]
Chr6:132206089 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.913C>T (p.Pro305Ser) |
single nucleotide variant |
not provided [RCV000481485] |
Chr6:131860504 [GRCh38]
Chr6:132181644 [GRCh37]
Chr6:6q23.2 |
likely pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 |
copy number gain |
See cases [RCV000512067] |
Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) |
copy number gain |
See cases [RCV000510595] |
Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| NM_006208.3(ENPP1):c.2336C>A (p.Thr779Asn) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001151766]|Arterial calcification, generalized, of infancy, 1 [RCV005398720]|ENPP1-related disorder [RCV004535592]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001151765]|not provided [RCV000904919]|not specified [RCV000499822] |
Chr6:131884955 [GRCh38]
Chr6:132206095 [GRCh37]
Chr6:6q23.2 |
benign|likely benign|uncertain significance |
| GRCh37/hg19 6q23.2(chr6:131605284-132219490)x1 |
copy number loss |
See cases [RCV000511614] |
Chr6:131605284..132219490 [GRCh37]
Chr6:6q23.2 |
likely benign |
| GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626432] |
Chr6:112939290..132327952 [GRCh37]
Chr6:6q21-23.2 |
drug response |
| NM_006208.3(ENPP1):c.1565+2dup |
duplication |
not provided [RCV000594307] |
Chr6:131873051..131873052 [GRCh38]
Chr6:132194191..132194192 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2007C>A (p.Asn669Lys) |
single nucleotide variant |
ENPP1-related disorder [RCV004529616]|Inborn genetic diseases [RCV003247543] |
Chr6:131879941 [GRCh38]
Chr6:132201081 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1038T>G (p.Phe346Leu) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005036716]|Inborn genetic diseases [RCV003279287]|not provided [RCV003730487] |
Chr6:131864518 [GRCh38]
Chr6:132185658 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.288del (p.Gly96_Leu97insTer) |
deletion |
not provided [RCV000593741] |
Chr6:131847821 [GRCh38]
Chr6:132168961 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.430+1del |
deletion |
Hypophosphatemic rickets, autosomal recessive, 2 [RCV000513219] |
Chr6:131850106 [GRCh38]
Chr6:132171246 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000660584]|Arterial calcification, generalized, of infancy, 1 [RCV000779491]|Arterial calcification, generalized, of infancy, 1 [RCV005046849]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001157114]|not provided [RCV001855391] |
Chr6:131872926 [GRCh38]
Chr6:132194066 [GRCh37]
Chr6:6q23.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006208.3(ENPP1):c.1503del (p.Phe501fs) |
deletion |
not provided [RCV001781035] |
Chr6:131872986 [GRCh38]
Chr6:132194126 [GRCh37]
Chr6:6q23.2 |
likely pathogenic |
| GRCh37/hg19 6q23.2-23.3(chr6:131388023-137469640)x1 |
copy number loss |
not provided [RCV000682724] |
Chr6:131388023..137469640 [GRCh37]
Chr6:6q23.2-23.3 |
pathogenic |
| GRCh37/hg19 6q23.2-23.3(chr6:132002460-137160850)x1 |
copy number loss |
not provided [RCV000682725] |
Chr6:132002460..137160850 [GRCh37]
Chr6:6q23.2-23.3 |
pathogenic |
| NM_006208.3(ENPP1):c.1165-99G>C |
single nucleotide variant |
not provided [RCV001548543] |
Chr6:131867919 [GRCh38]
Chr6:132189059 [GRCh37]
Chr6:6q23.2 |
likely benign |
| GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 |
copy number gain |
not provided [RCV000745403] |
Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 |
copy number gain |
not provided [RCV000745400] |
Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 |
copy number gain |
not provided [RCV000745404] |
Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| GRCh37/hg19 6q23.2(chr6:131957855-132424554)x3 |
copy number gain |
not provided [RCV000746036] |
Chr6:131957855..132424554 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1025+291C>T |
single nucleotide variant |
not provided [RCV001583297] |
Chr6:131861995 [GRCh38]
Chr6:132183135 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1636-202A>C |
single nucleotide variant |
not provided [RCV001667241] |
Chr6:131875574 [GRCh38]
Chr6:132196714 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.556+236C>T |
single nucleotide variant |
not provided [RCV001708090] |
Chr6:131851503 [GRCh38]
Chr6:132172643 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1893+210C>T |
single nucleotide variant |
not provided [RCV001692744] |
Chr6:131877371 [GRCh38]
Chr6:132198511 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.2607+207T>C |
single nucleotide variant |
not provided [RCV001709323] |
Chr6:131886931 [GRCh38]
Chr6:132208071 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.916-151A>G |
single nucleotide variant |
not provided [RCV001645465] |
Chr6:131861444 [GRCh38]
Chr6:132182584 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1636-58G>T |
single nucleotide variant |
not provided [RCV001708529] |
Chr6:131875718 [GRCh38]
Chr6:132196858 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1565+290G>A |
single nucleotide variant |
not provided [RCV001707186] |
Chr6:131873340 [GRCh38]
Chr6:132194480 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.556+231G>A |
single nucleotide variant |
not provided [RCV001649063] |
Chr6:131851498 [GRCh38]
Chr6:132172638 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1406-255A>G |
single nucleotide variant |
not provided [RCV001551448] |
Chr6:131871815 [GRCh38]
Chr6:132192955 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1165-287A>G |
single nucleotide variant |
not provided [RCV001577780] |
Chr6:131867731 [GRCh38]
Chr6:132188871 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2607+101_2607+102insCTT |
insertion |
not provided [RCV001665216] |
Chr6:131886824..131886825 [GRCh38]
Chr6:132207964..132207965 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.2230+128TA[3] |
microsatellite |
not provided [RCV001692608] |
Chr6:131882602..131882605 [GRCh38]
Chr6:132203742..132203745 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1066T>C (p.Trp356Arg) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000984993] |
Chr6:131864546 [GRCh38]
Chr6:132185686 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.241-138C>T |
single nucleotide variant |
not provided [RCV001645571] |
Chr6:131847638 [GRCh38]
Chr6:132168778 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1164+9A>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005036250]|not provided [RCV000885188] |
Chr6:131864947 [GRCh38]
Chr6:132186087 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.2462G>A (p.Arg821His) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001153011]|ENPP1-related disorder [RCV004535956]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001153010]|not provided [RCV000970455] |
Chr6:131886579 [GRCh38]
Chr6:132207719 [GRCh37]
Chr6:6q23.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| Single allele |
deletion |
Interstitial 6q microdeletion syndrome [RCV002280353] |
Chr6:115941808..133892653 [GRCh38]
Chr6:6q22.1-23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.1000C>G (p.Pro334Ala) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000785867] |
Chr6:131861679 [GRCh38]
Chr6:132182819 [GRCh37]
Chr6:6q23.2 |
likely pathogenic |
| NM_006208.3(ENPP1):c.937C>T (p.Gln313Ter) |
single nucleotide variant |
ENPP1-related disorder [RCV000779490] |
Chr6:131861616 [GRCh38]
Chr6:132182756 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2231-1G>T |
single nucleotide variant |
ENPP1-related disorder [RCV000779492] |
Chr6:131883693 [GRCh38]
Chr6:132204833 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| GRCh37/hg19 6q22.33-23.2(chr6:129513837-132618991) |
copy number loss |
not provided [RCV000767715] |
Chr6:129513837..132618991 [GRCh37]
Chr6:6q22.33-23.2 |
likely pathogenic |
| NM_006208.3(ENPP1):c.120C>T (p.Pro40=) |
single nucleotide variant |
not provided [RCV000920507] |
Chr6:131808155 [GRCh38]
Chr6:132129295 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1274-5C>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV002503020]|not provided [RCV000964474] |
Chr6:131869353 [GRCh38]
Chr6:132190493 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.556+8G>T |
single nucleotide variant |
ENPP1-related disorder [RCV004541776]|not provided [RCV000880024] |
Chr6:131851275 [GRCh38]
Chr6:132172415 [GRCh37]
Chr6:6q23.2 |
likely benign |
| GRCh37/hg19 6q23.2(chr6:131673206-132706248)x1 |
copy number loss |
not provided [RCV000848451] |
Chr6:131673206..132706248 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.443C>G (p.Thr148Ser) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001151586]|Arterial calcification, generalized, of infancy, 1 [RCV005036420]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001151585] |
Chr6:131851154 [GRCh38]
Chr6:132172294 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2079A>G (p.Thr693=) |
single nucleotide variant |
not provided [RCV000940545] |
Chr6:131880013 [GRCh38]
Chr6:132201153 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1735T>G (p.Leu579Val) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005047262]|not provided [RCV001057958] |
Chr6:131877003 [GRCh38]
Chr6:132198143 [GRCh37]
Chr6:6q23.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006208.3(ENPP1):c.*4620G>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001152573]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001158047] |
Chr6:131895131 [GRCh38]
Chr6:132216271 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*128C>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001151881]|Arterial calcification, generalized, of infancy, 1 [RCV002483889]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001151880] |
Chr6:131890639 [GRCh38]
Chr6:132211779 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*671T>C |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001151966]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001151967] |
Chr6:131891182 [GRCh38]
Chr6:132212322 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*1105T>C |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001152066]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001152067] |
Chr6:131891616 [GRCh38]
Chr6:132212756 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*2073C>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001152282]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001157763] |
Chr6:131892584 [GRCh38]
Chr6:132213724 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*3920G>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001152475]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001152476] |
Chr6:131894431 [GRCh38]
Chr6:132215571 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*150G>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001151882]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001151883] |
Chr6:131890661 [GRCh38]
Chr6:132211801 [GRCh37]
Chr6:6q23.2 |
likely benign |
| GRCh37/hg19 6q23.2(chr6:131958069-132444234)x3 |
copy number gain |
not provided [RCV000848075] |
Chr6:131958069..132444234 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2101-2A>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000995539] |
Chr6:131882343 [GRCh38]
Chr6:132203483 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.*1864T>C |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001156048]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001156049] |
Chr6:131892375 [GRCh38]
Chr6:132213515 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*804A>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001153229]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001153230] |
Chr6:131891315 [GRCh38]
Chr6:132212455 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.*1224A>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001153330]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001155944] |
Chr6:131891735 [GRCh38]
Chr6:132212875 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.*2966C>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001157857]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001156180] |
Chr6:131893477 [GRCh38]
Chr6:132214617 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2191A>T (p.Asn731Tyr) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001157229]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001157228]|not provided [RCV003727922] |
Chr6:131882435 [GRCh38]
Chr6:132203575 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*103A>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001157322]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001157321] |
Chr6:131890614 [GRCh38]
Chr6:132211754 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1998G>A (p.Gln666=) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001154710]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001155541]|not provided [RCV002559489] |
Chr6:131879932 [GRCh38]
Chr6:132201072 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.685G>A (p.Gly229Ser) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001155433]|Arterial calcification, generalized, of infancy, 1 [RCV002505733]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001155434]|not provided [RCV002032433] |
Chr6:131854993 [GRCh38]
Chr6:132176133 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1091+76C>A |
single nucleotide variant |
not provided [RCV001568284] |
Chr6:131864647 [GRCh38]
Chr6:132185787 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NC_000006.12:g.131808001G>T |
single nucleotide variant |
not provided [RCV001570175] |
Chr6:131808001 [GRCh38]
Chr6:132129141 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1025+268C>A |
single nucleotide variant |
not provided [RCV001615468] |
Chr6:131861972 [GRCh38]
Chr6:132183112 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1091+35C>T |
single nucleotide variant |
not provided [RCV001616868] |
Chr6:131864606 [GRCh38]
Chr6:132185746 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.915+27T>G |
single nucleotide variant |
not provided [RCV001684609] |
Chr6:131860533 [GRCh38]
Chr6:132181673 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.314-64G>A |
single nucleotide variant |
not provided [RCV001652951] |
Chr6:131849926 [GRCh38]
Chr6:132171066 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.2607+206_2607+207insC |
insertion |
not provided [RCV001676426] |
Chr6:131886930..131886931 [GRCh38]
Chr6:132208070..132208071 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1894-279A>G |
single nucleotide variant |
not provided [RCV001541260] |
Chr6:131878263 [GRCh38]
Chr6:132199403 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1893+141G>A |
single nucleotide variant |
not provided [RCV001677750] |
Chr6:131877302 [GRCh38]
Chr6:132198442 [GRCh37]
Chr6:6q23.2 |
benign |
| NC_000006.12:g.131807832C>T |
single nucleotide variant |
not provided [RCV001559616] |
Chr6:131807832 [GRCh38]
Chr6:132128972 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1893+127T>A |
single nucleotide variant |
not provided [RCV001620903] |
Chr6:131877288 [GRCh38]
Chr6:132198428 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1068G>A (p.Trp356Ter) |
single nucleotide variant |
Coronary sclerosis, medial, of infancy [RCV000853320] |
Chr6:131864548 [GRCh38]
Chr6:132185688 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.313+9GT[21] |
microsatellite |
not provided [RCV000952909]|not specified [RCV001726382] |
Chr6:131847856..131847857 [GRCh38]
Chr6:132168996..132168997 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1653T>C (p.Tyr551=) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001151666]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001151667]|not provided [RCV000907273] |
Chr6:131875793 [GRCh38]
Chr6:132196933 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.860C>T (p.Ser287Phe) |
single nucleotide variant |
not provided [RCV000909187]|not specified [RCV004526048] |
Chr6:131860451 [GRCh38]
Chr6:132181591 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.750G>C (p.Pro250=) |
single nucleotide variant |
not provided [RCV000928603] |
Chr6:131858702 [GRCh38]
Chr6:132179842 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.522C>T (p.Gly174=) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001154594]|ENPP1-related disorder [RCV004531000]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001154593]|not provided [RCV000896125] |
Chr6:131851233 [GRCh38]
Chr6:132172373 [GRCh37]
Chr6:6q23.2 |
benign|likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.*4507A>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001158046]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001158045] |
Chr6:131895018 [GRCh38]
Chr6:132216158 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*3602C>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001153661]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001153662] |
Chr6:131894113 [GRCh38]
Chr6:132215253 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2415A>T (p.Gly805=) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001153007]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001151769]|not provided [RCV002557275]|not specified [RCV004587053] |
Chr6:131885034 [GRCh38]
Chr6:132206174 [GRCh37]
Chr6:6q23.2 |
risk factor|likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.*1125G>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001152069]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001152068] |
Chr6:131891636 [GRCh38]
Chr6:132212776 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*3718C>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001156263]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001156264] |
Chr6:131894229 [GRCh38]
Chr6:132215369 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.313+11G>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001156997]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001156998]|not provided [RCV001415167] |
Chr6:131847859 [GRCh38]
Chr6:132168999 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.*1307T>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001157644]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001157645]|not provided [RCV004707562] |
Chr6:131891818 [GRCh38]
Chr6:132212958 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.626C>T (p.Thr209Met) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005005098]|not provided [RCV001225488] |
Chr6:131854934 [GRCh38]
Chr6:132176074 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1699A>G (p.Ile567Val) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV002480823]|not provided [RCV001244168] |
Chr6:131875839 [GRCh38]
Chr6:132196979 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.750G>A (p.Pro250=) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV002501458]|not provided [RCV000890358]|not specified [RCV004689917] |
Chr6:131858702 [GRCh38]
Chr6:132179842 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.915+10T>C |
single nucleotide variant |
not provided [RCV000911302] |
Chr6:131860516 [GRCh38]
Chr6:132181656 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1776C>T (p.Asn592=) |
single nucleotide variant |
not provided [RCV000911784]|not specified [RCV005236430] |
Chr6:131877044 [GRCh38]
Chr6:132198184 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.999C>T (p.Phe333=) |
single nucleotide variant |
not provided [RCV002613475] |
Chr6:131861678 [GRCh38]
Chr6:132182818 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.431-95T>C |
single nucleotide variant |
not provided [RCV001677109] |
Chr6:131851047 [GRCh38]
Chr6:132172187 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.2101-215G>A |
single nucleotide variant |
not provided [RCV001562901] |
Chr6:131882130 [GRCh38]
Chr6:132203270 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2101-286_2101-285insAAAA |
insertion |
not provided [RCV001597908] |
Chr6:131882058..131882059 [GRCh38]
Chr6:132203198..132203199 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1946-325C>A |
single nucleotide variant |
not provided [RCV001595229] |
Chr6:131879555 [GRCh38]
Chr6:132200695 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1893+271C>T |
single nucleotide variant |
not provided [RCV001595369] |
Chr6:131877432 [GRCh38]
Chr6:132198572 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1565+283C>T |
single nucleotide variant |
not provided [RCV001552343] |
Chr6:131873333 [GRCh38]
Chr6:132194473 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.827A>G (p.Asp276Gly) |
single nucleotide variant |
Type 2 diabetes mellitus [RCV001809162]|not provided [RCV005095222] |
Chr6:131860418 [GRCh38]
Chr6:132181558 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.796-219A>T |
single nucleotide variant |
not provided [RCV001658476] |
Chr6:131860168 [GRCh38]
Chr6:132181308 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.2101-313AATA[8] |
microsatellite |
not provided [RCV001620406] |
Chr6:131882031..131882032 [GRCh38]
Chr6:132203171..132203172 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.795+141T>C |
single nucleotide variant |
not provided [RCV001656518] |
Chr6:131858888 [GRCh38]
Chr6:132180028 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1405+236A>G |
single nucleotide variant |
not provided [RCV001654074] |
Chr6:131869725 [GRCh38]
Chr6:132190865 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1894-67G>A |
single nucleotide variant |
not provided [RCV001596780] |
Chr6:131878475 [GRCh38]
Chr6:132199615 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1405+235C>T |
single nucleotide variant |
not provided [RCV001723167] |
Chr6:131869724 [GRCh38]
Chr6:132190864 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1165-103C>G |
single nucleotide variant |
not provided [RCV001589500] |
Chr6:131867915 [GRCh38]
Chr6:132189055 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1565+236C>G |
single nucleotide variant |
not provided [RCV001659406] |
Chr6:131873286 [GRCh38]
Chr6:132194426 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.313+11_313+13del |
deletion |
not provided [RCV001686380] |
Chr6:131847859..131847861 [GRCh38]
Chr6:132168999..132169001 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1894-204C>G |
single nucleotide variant |
not provided [RCV001616899] |
Chr6:131878338 [GRCh38]
Chr6:132199478 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.2231-209C>G |
single nucleotide variant |
not provided [RCV001688768] |
Chr6:131883485 [GRCh38]
Chr6:132204625 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1945+310G>C |
single nucleotide variant |
not provided [RCV001674214] |
Chr6:131878903 [GRCh38]
Chr6:132200043 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1025+71T>C |
single nucleotide variant |
not provided [RCV001673456] |
Chr6:131861775 [GRCh38]
Chr6:132182915 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.556+197T>C |
single nucleotide variant |
not provided [RCV001657206] |
Chr6:131851464 [GRCh38]
Chr6:132172604 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1025+234G>A |
single nucleotide variant |
not provided [RCV001595222] |
Chr6:131861938 [GRCh38]
Chr6:132183078 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.*516T>C |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001155733]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001155732] |
Chr6:131891027 [GRCh38]
Chr6:132212167 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*4471C>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001156376]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001158044] |
Chr6:131894982 [GRCh38]
Chr6:132216122 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*4369C>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001156375]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001156374] |
Chr6:131894880 [GRCh38]
Chr6:132216020 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2380G>A (p.Val794Ile) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001151767]|Arterial calcification, generalized, of infancy, 1 [RCV002480549]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001151768]|Inborn genetic diseases [RCV003259123]|not provided [RCV001858994] |
Chr6:131884999 [GRCh38]
Chr6:132206139 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*120C>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001157323]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001157324] |
Chr6:131890631 [GRCh38]
Chr6:132211771 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.10G>A (p.Asp4Asn) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001154493]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001154494] |
Chr6:131808045 [GRCh38]
Chr6:132129185 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*1525T>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001152178]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001152179] |
Chr6:131892036 [GRCh38]
Chr6:132213176 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2444+10T>C |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001153008]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001153009]|not provided [RCV002557296] |
Chr6:131885073 [GRCh38]
Chr6:132206213 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.*392G>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001153123]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001153124] |
Chr6:131890903 [GRCh38]
Chr6:132212043 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*1618A>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001153460]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001153461] |
Chr6:131892129 [GRCh38]
Chr6:132213269 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.601C>T (p.Pro201Ser) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001154598]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001154597] |
Chr6:131852219 [GRCh38]
Chr6:132173359 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*400C>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001153126]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001153125] |
Chr6:131890911 [GRCh38]
Chr6:132212051 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.*848T>C |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001155825]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001153231] |
Chr6:131891359 [GRCh38]
Chr6:132212499 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*2543T>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001153559]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001153560] |
Chr6:131893054 [GRCh38]
Chr6:132214194 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*4332C>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001156372]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001156373] |
Chr6:131894843 [GRCh38]
Chr6:132215983 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.536A>G (p.Asn179Ser) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001154596]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001154595]|not provided [RCV002557320] |
Chr6:131851247 [GRCh38]
Chr6:132172387 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.214C>T (p.Pro72Ser) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001156996]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001155323] |
Chr6:131808249 [GRCh38]
Chr6:132129389 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1274-94C>T |
single nucleotide variant |
not provided [RCV001614063] |
Chr6:131869264 [GRCh38]
Chr6:132190404 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.*657A>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001151965]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001157437] |
Chr6:131891168 [GRCh38]
Chr6:132212308 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2608-116C>T |
single nucleotide variant |
not provided [RCV001611948] |
Chr6:131890225 [GRCh38]
Chr6:132211365 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.2607+206T>C |
single nucleotide variant |
not provided [RCV001671339] |
Chr6:131886930 [GRCh38]
Chr6:132208070 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.314-124C>G |
single nucleotide variant |
not provided [RCV001585142] |
Chr6:131849866 [GRCh38]
Chr6:132171006 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2608-63A>G |
single nucleotide variant |
not provided [RCV001708531] |
Chr6:131890278 [GRCh38]
Chr6:132211418 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1893+272G>A |
single nucleotide variant |
not provided [RCV001707314] |
Chr6:131877433 [GRCh38]
Chr6:132198573 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1164+222C>G |
single nucleotide variant |
not provided [RCV001691349] |
Chr6:131865160 [GRCh38]
Chr6:132186300 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1165-210T>C |
single nucleotide variant |
not provided [RCV001680132] |
Chr6:131867808 [GRCh38]
Chr6:132188948 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1406-216A>T |
single nucleotide variant |
not provided [RCV001663223] |
Chr6:131871854 [GRCh38]
Chr6:132192994 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.715+146G>A |
single nucleotide variant |
not provided [RCV001645157] |
Chr6:131855169 [GRCh38]
Chr6:132176309 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1769G>A (p.Ser590Asn) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001089983]|not provided [RCV002557943] |
Chr6:131877037 [GRCh38]
Chr6:132198177 [GRCh37]
Chr6:6q23.2 |
likely pathogenic|uncertain significance |
| NC_000006.12:g.131807700C>T |
single nucleotide variant |
not provided [RCV001527882] |
Chr6:131807700 [GRCh38]
Chr6:132128840 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1091+131G>A |
single nucleotide variant |
not provided [RCV001709981] |
Chr6:131864702 [GRCh38]
Chr6:132185842 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1946-94A>G |
single nucleotide variant |
not provided [RCV001613618] |
Chr6:131879786 [GRCh38]
Chr6:132200926 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.2101-53A>G |
single nucleotide variant |
not provided [RCV001614793] |
Chr6:131882292 [GRCh38]
Chr6:132203432 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1438-110A>G |
single nucleotide variant |
not provided [RCV001671579] |
Chr6:131872813 [GRCh38]
Chr6:132193953 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1437+1G>T |
single nucleotide variant |
not provided [RCV001233250] |
Chr6:131872102 [GRCh38]
Chr6:132193242 [GRCh37]
Chr6:6q23.2 |
pathogenic|likely pathogenic |
| NM_006208.3(ENPP1):c.1437+3_1437+6del |
deletion |
Arterial calcification, generalized, of infancy, 1 [RCV002481948]|not provided [RCV001049351] |
Chr6:131872102..131872105 [GRCh38]
Chr6:132193242..132193245 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*3919C>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001152473]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001152474] |
Chr6:131894430 [GRCh38]
Chr6:132215570 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*4014C>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001152478]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001152477] |
Chr6:131894525 [GRCh38]
Chr6:132215665 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.157A>G (p.Met53Val) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001155322]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001155321] |
Chr6:131808192 [GRCh38]
Chr6:132129332 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.313+13G>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001151582]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001156999]|not provided [RCV001506544] |
Chr6:131847861 [GRCh38]
Chr6:132169001 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.313+15G>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001151584]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001151583]|not provided [RCV002070837] |
Chr6:131847863 [GRCh38]
Chr6:132169003 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.1724-5T>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001151668]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001151669] |
Chr6:131876987 [GRCh38]
Chr6:132198127 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*1716G>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001153462]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001153463] |
Chr6:131892227 [GRCh38]
Chr6:132213367 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*3600G>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001153660]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001153659] |
Chr6:131894111 [GRCh38]
Chr6:132215251 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.313+11_313+15del |
deletion |
Arterial calcification, generalized, of infancy, 1 [RCV002504223]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001195975] |
Chr6:131847859..131847863 [GRCh38]
Chr6:132168999..132169003 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.*3879A>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001157940]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001157939] |
Chr6:131894390 [GRCh38]
Chr6:132215530 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.544T>G (p.Ser182Ala) |
single nucleotide variant |
not provided [RCV001036086] |
Chr6:131851255 [GRCh38]
Chr6:132172395 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*4047C>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001153748]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001153749] |
Chr6:131894558 [GRCh38]
Chr6:132215698 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*4064T>C |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001153751]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001153750] |
Chr6:131894575 [GRCh38]
Chr6:132215715 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.2376T>A (p.Asn792Lys) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001089998]|Arterial calcification, generalized, of infancy, 1 [RCV005047300]|not provided [RCV001862668]|not specified [RCV004587043] |
Chr6:131884995 [GRCh38]
Chr6:132206135 [GRCh37]
Chr6:6q23.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006208.3(ENPP1):c.*902G>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001155827]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001155826] |
Chr6:131891413 [GRCh38]
Chr6:132212553 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*1239T>C |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001155946]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001155945] |
Chr6:131891750 [GRCh38]
Chr6:132212890 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*477A>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001155731]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001155730] |
Chr6:131890988 [GRCh38]
Chr6:132212128 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1889C>A (p.Pro630His) |
single nucleotide variant |
not provided [RCV001214031] |
Chr6:131877157 [GRCh38]
Chr6:132198297 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*2564A>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001153561]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001156179] |
Chr6:131893075 [GRCh38]
Chr6:132214215 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*4287G>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001156371]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001153752] |
Chr6:131894798 [GRCh38]
Chr6:132215938 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*577G>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001157436]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001157435] |
Chr6:131891088 [GRCh38]
Chr6:132212228 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.614C>A (p.Ala205Glu) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001155432]|Arterial calcification, generalized, of infancy, 1 [RCV005005056]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001154599]|Inborn genetic diseases [RCV002559488]|not provided [RCV002032425] |
Chr6:131852232 [GRCh38]
Chr6:132173372 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1893+57T>C |
single nucleotide variant |
not provided [RCV001641375] |
Chr6:131877218 [GRCh38]
Chr6:132198358 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1391A>G (p.Asp464Gly) |
single nucleotide variant |
Hypopigmentation-punctate palmoplantar keratoderma syndrome [RCV001262160] |
Chr6:131869475 [GRCh38]
Chr6:132190615 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2344C>T (p.Arg782Ter) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001536097]|ENPP1-related disorder [RCV003388023]|not provided [RCV003558835] |
Chr6:131884963 [GRCh38]
Chr6:132206103 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.556G>C (p.Gly186Arg) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001270246] |
Chr6:131851267 [GRCh38]
Chr6:132172407 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.1274-191G>A |
single nucleotide variant |
not provided [RCV001565154] |
Chr6:131869167 [GRCh38]
Chr6:132190307 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1006del (p.Ile336fs) |
deletion |
not provided [RCV005137211] |
Chr6:131861685 [GRCh38]
Chr6:132182825 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.845C>T (p.Pro282Leu) |
single nucleotide variant |
not provided [RCV001296910] |
Chr6:131860436 [GRCh38]
Chr6:132181576 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NC_000006.11:g.(?_131894423)_(132211651_?)dup |
duplication |
Arginase deficiency [RCV001294718] |
Chr6:131894423..132211651 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1438-26T>C |
single nucleotide variant |
not provided [RCV001787504] |
Chr6:131872897 [GRCh38]
Chr6:132194037 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.484A>G (p.Ser162Gly) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001336927]|ENPP1-related disorder [RCV004531126] |
Chr6:131851195 [GRCh38]
Chr6:132172335 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1909G>C (p.Asp637His) |
single nucleotide variant |
not provided [RCV001360206] |
Chr6:131878557 [GRCh38]
Chr6:132199697 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.761del (p.Thr254fs) |
deletion |
not provided [RCV001781036] |
Chr6:131858713 [GRCh38]
Chr6:132179853 [GRCh37]
Chr6:6q23.2 |
likely pathogenic |
| NM_006208.3(ENPP1):c.749C>T (p.Pro250Leu) |
single nucleotide variant |
ENPP1-related disorder [RCV003336411]|not provided [RCV001390419] |
Chr6:131858701 [GRCh38]
Chr6:132179841 [GRCh37]
Chr6:6q23.2 |
pathogenic|likely pathogenic |
| NM_006208.3(ENPP1):c.313+9GT[15] |
microsatellite |
not provided [RCV001442174] |
Chr6:131847857..131847864 [GRCh38]
Chr6:132168997..132169004 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.618-20T>G |
single nucleotide variant |
not provided [RCV001512929] |
Chr6:131854906 [GRCh38]
Chr6:132176046 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.313+8_313+9insTTGT |
insertion |
ENPP1-related disorder [RCV004540274]|not provided [RCV001410384] |
Chr6:131847856..131847857 [GRCh38]
Chr6:132168996..132168997 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1636-254dup |
duplication |
not provided [RCV001655404] |
Chr6:131875513..131875514 [GRCh38]
Chr6:132196653..132196654 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1894-123A>G |
single nucleotide variant |
not provided [RCV001709355] |
Chr6:131878419 [GRCh38]
Chr6:132199559 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1437+154A>C |
single nucleotide variant |
not provided [RCV001684562] |
Chr6:131872255 [GRCh38]
Chr6:132193395 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1165-76del |
deletion |
not provided [RCV001618971] |
Chr6:131867928 [GRCh38]
Chr6:132189068 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.2608-291T>C |
single nucleotide variant |
not provided [RCV001713666] |
Chr6:131890050 [GRCh38]
Chr6:132211190 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.314-346C>T |
single nucleotide variant |
not provided [RCV001675216] |
Chr6:131849644 [GRCh38]
Chr6:132170784 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1164+234A>G |
single nucleotide variant |
not provided [RCV001715362] |
Chr6:131865172 [GRCh38]
Chr6:132186312 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1945+246C>T |
single nucleotide variant |
not provided [RCV001713939] |
Chr6:131878839 [GRCh38]
Chr6:132199979 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.2607+199_2607+200insCATT |
insertion |
not provided [RCV001710522] |
Chr6:131886921..131886922 [GRCh38]
Chr6:132208061..132208062 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.2607+222del |
deletion |
not provided [RCV001692548] |
Chr6:131886927 [GRCh38]
Chr6:132208067 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.2230+28C>A |
single nucleotide variant |
not provided [RCV001590226] |
Chr6:131882502 [GRCh38]
Chr6:132203642 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.273T>G (p.Leu91=) |
single nucleotide variant |
not provided [RCV001473419] |
Chr6:131847808 [GRCh38]
Chr6:132168948 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1274-8dup |
duplication |
not provided [RCV001523104] |
Chr6:131869340..131869341 [GRCh38]
Chr6:132190480..132190481 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.313+8_313+9dup |
duplication |
Arterial calcification, generalized, of infancy, 1 [RCV002501833]|ENPP1-related disorder [RCV004533944]|not provided [RCV001521186] |
Chr6:131847855..131847856 [GRCh38]
Chr6:132168995..132168996 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.313+17G>T |
single nucleotide variant |
not provided [RCV001415619] |
Chr6:131847865 [GRCh38]
Chr6:132169005 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.990C>T (p.Asn330=) |
single nucleotide variant |
not provided [RCV001432533] |
Chr6:131861669 [GRCh38]
Chr6:132182809 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2445-5T>C |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV002501501]|ENPP1-related disorder [RCV004531288]|not provided [RCV001424485] |
Chr6:131886557 [GRCh38]
Chr6:132207697 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1366C>T (p.Arg456Ter) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005042758]|Type 2 diabetes mellitus [RCV002249936] |
Chr6:131869450 [GRCh38]
Chr6:132190590 [GRCh37]
Chr6:6q23.2 |
pathogenic|likely pathogenic |
| NM_006208.3(ENPP1):c.2607+208T>C |
single nucleotide variant |
not provided [RCV001759022] |
Chr6:131886932 [GRCh38]
Chr6:132208072 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.511A>T (p.Lys171Ter) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV002273882] |
Chr6:131851222 [GRCh38]
Chr6:132172362 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.570G>T (p.Trp190Cys) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV002273883] |
Chr6:131852188 [GRCh38]
Chr6:132173328 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.574del (p.Glu192fs) |
deletion |
Arterial calcification, generalized, of infancy, 1 [RCV002273884] |
Chr6:131852192 [GRCh38]
Chr6:132173332 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.26dup (p.Gly10fs) |
duplication |
Arterial calcification, generalized, of infancy, 1 [RCV002273889] |
Chr6:131808055..131808056 [GRCh38]
Chr6:132129195..132129196 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.208A>T (p.Lys70Ter) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV002273894] |
Chr6:131808243 [GRCh38]
Chr6:132129383 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3:c.(1091+1_1092-1)_(1164+1_1165-1)del |
deletion |
Arterial calcification, generalized, of infancy, 1 [RCV002273911] |
|
pathogenic |
| NC_000006.12:g.131807976G>A |
single nucleotide variant |
not provided [RCV001779624] |
Chr6:131807976 [GRCh38]
Chr6:132129116 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2413G>A (p.Gly805Arg) |
single nucleotide variant |
not provided [RCV001988710] |
Chr6:131885032 [GRCh38]
Chr6:132206172 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1273+70A>T |
single nucleotide variant |
not provided [RCV001837679] |
Chr6:131868196 [GRCh38]
Chr6:132189336 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.236C>T (p.Ser79Leu) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005032069]|not provided [RCV001983645] |
Chr6:131808271 [GRCh38]
Chr6:132129411 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2741T>G (p.Leu914Trp) |
single nucleotide variant |
not provided [RCV001874374] |
Chr6:131890474 [GRCh38]
Chr6:132211614 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1564T>C (p.Leu522=) |
single nucleotide variant |
not provided [RCV001895786] |
Chr6:131873049 [GRCh38]
Chr6:132194189 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1376C>T (p.Pro459Leu) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005032111]|not provided [RCV002043267] |
Chr6:131869460 [GRCh38]
Chr6:132190600 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.580C>A (p.Pro194Thr) |
single nucleotide variant |
not provided [RCV002005591] |
Chr6:131852198 [GRCh38]
Chr6:132173338 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| GRCh37/hg19 6q23.2(chr6:131958038-132444269)x3 |
copy number gain |
not provided [RCV001834442] |
Chr6:131958038..132444269 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| GRCh37/hg19 6q23.1-23.3(chr6:130769034-136009217)x1 |
copy number loss |
not provided [RCV001829086] |
Chr6:130769034..136009217 [GRCh37]
Chr6:6q23.1-23.3 |
pathogenic |
| NM_006208.3(ENPP1):c.313+9GT[23] |
microsatellite |
not provided [RCV001908981] |
Chr6:131847856..131847857 [GRCh38]
Chr6:132168996..132168997 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.595A>G (p.Asn199Asp) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV002484451]|not provided [RCV001913611] |
Chr6:131852213 [GRCh38]
Chr6:132173353 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| GRCh37/hg19 6q23.2(chr6:131624204-132219490) |
copy number gain |
not specified [RCV002053623] |
Chr6:131624204..132219490 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.370G>A (p.Ala124Thr) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005032029]|Inborn genetic diseases [RCV002564408]|not provided [RCV001983155] |
Chr6:131850046 [GRCh38]
Chr6:132171186 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2252G>A (p.Gly751Glu) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005002698]|not provided [RCV001968099] |
Chr6:131883715 [GRCh38]
Chr6:132204855 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1352A>G (p.Tyr451Cys) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV002503525]|not provided [RCV001920169] |
Chr6:131869436 [GRCh38]
Chr6:132190576 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.199C>G (p.Arg67Gly) |
single nucleotide variant |
ENPP1-related disorder [RCV004538719]|not provided [RCV001980800] |
Chr6:131808234 [GRCh38]
Chr6:132129374 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2114C>T (p.Thr705Met) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005031924]|Inborn genetic diseases [RCV002562038]|not provided [RCV001981871]|not specified [RCV005057801] |
Chr6:131882358 [GRCh38]
Chr6:132203498 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.2379C>T (p.Val793=) |
single nucleotide variant |
not provided [RCV002112210] |
Chr6:131884998 [GRCh38]
Chr6:132206138 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2608-20_2608-18del |
deletion |
not provided [RCV002130522] |
Chr6:131890320..131890322 [GRCh38]
Chr6:132211460..132211462 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.210G>A (p.Lys70=) |
single nucleotide variant |
not provided [RCV002190482] |
Chr6:131808245 [GRCh38]
Chr6:132129385 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.313+9_313+11del |
deletion |
not provided [RCV002172978] |
Chr6:131847856..131847858 [GRCh38]
Chr6:132168996..132168998 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2311+8A>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV002498090]|not provided [RCV002080091] |
Chr6:131883782 [GRCh38]
Chr6:132204922 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.313+19G>T |
single nucleotide variant |
not provided [RCV002130756] |
Chr6:131847867 [GRCh38]
Chr6:132169007 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2733T>C (p.Ile911=) |
single nucleotide variant |
not provided [RCV002214760] |
Chr6:131890466 [GRCh38]
Chr6:132211606 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.716-15T>C |
single nucleotide variant |
not provided [RCV002154213] |
Chr6:131858653 [GRCh38]
Chr6:132179793 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.617+62T>C |
single nucleotide variant |
not provided [RCV002222810] |
Chr6:131852297 [GRCh38]
Chr6:132173437 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.796-40G>A |
single nucleotide variant |
not provided [RCV002222811] |
Chr6:131860347 [GRCh38]
Chr6:132181487 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.795+12A>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV002500444]|not provided [RCV002204347] |
Chr6:131858759 [GRCh38]
Chr6:132179899 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1724-19C>T |
single nucleotide variant |
not provided [RCV002143262] |
Chr6:131876973 [GRCh38]
Chr6:132198113 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.313+8_313+9insTTGTGTGT |
insertion |
Arterial calcification, generalized, of infancy, 1 [RCV002500428]|not provided [RCV002201153] |
Chr6:131847856..131847857 [GRCh38]
Chr6:132168996..132168997 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2490C>T (p.His830=) |
single nucleotide variant |
not provided [RCV002219977] |
Chr6:131886607 [GRCh38]
Chr6:132207747 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.373G>A (p.Ala125Thr) |
single nucleotide variant |
not provided [RCV003113035] |
Chr6:131850049 [GRCh38]
Chr6:132171189 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.118C>A (p.Pro40Thr) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005036663]|not provided [RCV003121293] |
Chr6:131808153 [GRCh38]
Chr6:132129293 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.796G>A (p.Gly266Arg) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV002273885] |
Chr6:131860387 [GRCh38]
Chr6:132181527 [GRCh37]
Chr6:6q23.2 |
likely pathogenic |
| NC_000006.12:g.131688637_132215008del |
deletion |
Arterial calcification, generalized, of infancy, 1 [RCV002273892] |
Chr6:131688637..132215008 [GRCh38]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.2300del (p.Gln767fs) |
deletion |
Arterial calcification, generalized, of infancy, 1 [RCV002273896] |
Chr6:131883763 [GRCh38]
Chr6:132204903 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.1273+1G>A |
single nucleotide variant |
Hypophosphatemic rickets, autosomal recessive, 2 [RCV002273913] |
Chr6:131868127 [GRCh38]
Chr6:132189267 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.1026-59_1026-10del |
deletion |
Arterial calcification, generalized, of infancy, 1 [RCV002273886] |
Chr6:131864445..131864494 [GRCh38]
Chr6:132185585..132185634 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2664del (p.Ile889fs) |
deletion |
Arterial calcification, generalized, of infancy, 1 [RCV002273897] |
Chr6:131890396 [GRCh38]
Chr6:132211536 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.1565+1G>T |
single nucleotide variant |
Type 2 diabetes mellitus [RCV002249041] |
Chr6:131873051 [GRCh38]
Chr6:132194191 [GRCh37]
Chr6:6q23.2 |
likely pathogenic |
| NM_006208.3(ENPP1):c.2741T>A (p.Leu914Ter) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV002273881] |
Chr6:131890474 [GRCh38]
Chr6:132211614 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.2230C>T (p.Gln744Ter) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV002273887]|Arterial calcification, generalized, of infancy, 1 [RCV002273888] |
Chr6:131882474 [GRCh38]
Chr6:132203614 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.196_197del (p.Ala66fs) |
microsatellite |
Arterial calcification, generalized, of infancy, 1 [RCV002273914]|Arterial calcification, generalized, of infancy, 1 [RCV002273915] |
Chr6:131808225..131808226 [GRCh38]
Chr6:132129365..132129366 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.1499A>C (p.His500Pro) |
single nucleotide variant |
not provided [RCV002286584] |
Chr6:131872984 [GRCh38]
Chr6:132194124 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.915+1G>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV002273880] |
Chr6:131860507 [GRCh38]
Chr6:132181647 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.1094del (p.Pro365fs) |
deletion |
Arterial calcification, generalized, of infancy, 1 [RCV002273912] |
Chr6:131864867 [GRCh38]
Chr6:132186007 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.419G>T (p.Cys140Phe) |
single nucleotide variant |
not provided [RCV002286581] |
Chr6:131850095 [GRCh38]
Chr6:132171235 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.497G>A (p.Cys166Tyr) |
single nucleotide variant |
not provided [RCV002286582] |
Chr6:131851208 [GRCh38]
Chr6:132172348 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1604A>G (p.His535Arg) |
single nucleotide variant |
not provided [RCV002286585] |
Chr6:131874306 [GRCh38]
Chr6:132195446 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1028C>A (p.Ser343Ter) |
single nucleotide variant |
not provided [RCV002292447] |
Chr6:131864508 [GRCh38]
Chr6:132185648 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.2317T>C (p.Trp773Arg) |
single nucleotide variant |
not provided [RCV002292070] |
Chr6:131884936 [GRCh38]
Chr6:132206076 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.796-2A>G |
single nucleotide variant |
not provided [RCV002292446] |
Chr6:131860385 [GRCh38]
Chr6:132181525 [GRCh37]
Chr6:6q23.2 |
likely pathogenic |
| NM_006208.3(ENPP1):c.787A>T (p.Ile263Phe) |
single nucleotide variant |
not provided [RCV002286583] |
Chr6:131858739 [GRCh38]
Chr6:132179879 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1025+192G>A |
single nucleotide variant |
not provided [RCV002293943] |
Chr6:131861896 [GRCh38]
Chr6:132183036 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.359G>C (p.Cys120Ser) |
single nucleotide variant |
not provided [RCV003129279] |
Chr6:131850035 [GRCh38]
Chr6:132171175 [GRCh37]
Chr6:6q23.2 |
likely pathogenic |
| NM_006208.3(ENPP1):c.383A>T (p.Glu128Val) |
single nucleotide variant |
not provided [RCV002295684] |
Chr6:131850059 [GRCh38]
Chr6:132171199 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1753A>G (p.Asn585Asp) |
single nucleotide variant |
not provided [RCV002296001] |
Chr6:131877021 [GRCh38]
Chr6:132198161 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.898T>A (p.Trp300Arg) |
single nucleotide variant |
ENPP1-related disorder [RCV004529126]|not provided [RCV002300249] |
Chr6:131860489 [GRCh38]
Chr6:132181629 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1576G>C (p.Glu526Gln) |
single nucleotide variant |
not provided [RCV002303069] |
Chr6:131874278 [GRCh38]
Chr6:132195418 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.916A>T (p.Ile306Phe) |
single nucleotide variant |
not provided [RCV002295149] |
Chr6:131861595 [GRCh38]
Chr6:132182735 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1802C>T (p.Thr601Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002994681]|not provided [RCV003011116] |
Chr6:131877070 [GRCh38]
Chr6:132198210 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2427C>G (p.Ser809=) |
single nucleotide variant |
not provided [RCV003095718] |
Chr6:131885046 [GRCh38]
Chr6:132206186 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2740T>C (p.Leu914=) |
single nucleotide variant |
ENPP1-related disorder [RCV004545390]|not provided [RCV002775392] |
Chr6:131890473 [GRCh38]
Chr6:132211613 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2086A>G (p.Thr696Ala) |
single nucleotide variant |
not provided [RCV002685927] |
Chr6:131880020 [GRCh38]
Chr6:132201160 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2778A>G (p.Ter926Trp) |
single nucleotide variant |
not provided [RCV003034213] |
Chr6:131890511 [GRCh38]
Chr6:132211651 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2643G>A (p.Leu881=) |
single nucleotide variant |
ENPP1-related disorder [RCV004538812]|not provided [RCV002615523] |
Chr6:131890376 [GRCh38]
Chr6:132211516 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2047T>C (p.Tyr683His) |
single nucleotide variant |
Inborn genetic diseases [RCV004617095]|not provided [RCV002776092] |
Chr6:131879981 [GRCh38]
Chr6:132201121 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.155C>T (p.Pro52Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002864528] |
Chr6:131808190 [GRCh38]
Chr6:132129330 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2655C>T (p.His885=) |
single nucleotide variant |
not provided [RCV002795118] |
Chr6:131890388 [GRCh38]
Chr6:132211528 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1636-9G>A |
single nucleotide variant |
ENPP1-related disorder [RCV004545400]|not provided [RCV002843417] |
Chr6:131875767 [GRCh38]
Chr6:132196907 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.26G>A (p.Gly9Asp) |
single nucleotide variant |
not provided [RCV002771194] |
Chr6:131808061 [GRCh38]
Chr6:132129201 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2113A>C (p.Thr705Pro) |
single nucleotide variant |
not provided [RCV002908827] |
Chr6:131882357 [GRCh38]
Chr6:132203497 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2117A>G (p.Glu706Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002860613] |
Chr6:131882361 [GRCh38]
Chr6:132203501 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2429dup (p.Leu810fs) |
duplication |
not provided [RCV002614449] |
Chr6:131885046..131885047 [GRCh38]
Chr6:132206186..132206187 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.2078C>T (p.Thr693Ile) |
single nucleotide variant |
not provided [RCV002750453] |
Chr6:131880012 [GRCh38]
Chr6:132201152 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1983A>T (p.Arg661Ser) |
single nucleotide variant |
not provided [RCV002861678] |
Chr6:131879917 [GRCh38]
Chr6:132201057 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.600G>T (p.Glu200Asp) |
single nucleotide variant |
not provided [RCV002837640] |
Chr6:131852218 [GRCh38]
Chr6:132173358 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2292A>G (p.Pro764=) |
single nucleotide variant |
not provided [RCV002871225] |
Chr6:131883755 [GRCh38]
Chr6:132204895 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1722T>C (p.Cys574=) |
single nucleotide variant |
not provided [RCV002889869] |
Chr6:131875862 [GRCh38]
Chr6:132197002 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2111C>T (p.Ser704Phe) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005045166]|not provided [RCV003022072] |
Chr6:131882355 [GRCh38]
Chr6:132203495 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.293A>G (p.Lys98Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002708115] |
Chr6:131847828 [GRCh38]
Chr6:132168968 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1172A>G (p.Lys391Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002888250] |
Chr6:131868025 [GRCh38]
Chr6:132189165 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1505C>T (p.Ala502Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002757739] |
Chr6:131872990 [GRCh38]
Chr6:132194130 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1325G>A (p.Gly442Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002694680] |
Chr6:131869409 [GRCh38]
Chr6:132190549 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1438T>C (p.Cys480Arg) |
single nucleotide variant |
not provided [RCV003079071] |
Chr6:131872923 [GRCh38]
Chr6:132194063 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2414G>T (p.Gly805Val) |
single nucleotide variant |
not provided [RCV003079072] |
Chr6:131885033 [GRCh38]
Chr6:132206173 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.432A>T (p.Glu144Asp) |
single nucleotide variant |
not provided [RCV003036412] |
Chr6:131851143 [GRCh38]
Chr6:132172283 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1274-8del |
deletion |
not provided [RCV002590678] |
Chr6:131869341 [GRCh38]
Chr6:132190481 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.2066T>C (p.Met689Thr) |
single nucleotide variant |
not provided [RCV002658608] |
Chr6:131880000 [GRCh38]
Chr6:132201140 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.719A>G (p.Lys240Arg) |
single nucleotide variant |
not provided [RCV003019205] |
Chr6:131858671 [GRCh38]
Chr6:132179811 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.942C>A (p.Gly314=) |
single nucleotide variant |
not provided [RCV002592262] |
Chr6:131861621 [GRCh38]
Chr6:132182761 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2321G>A (p.Arg774His) |
single nucleotide variant |
ENPP1-related disorder [RCV004538804]|Inborn genetic diseases [RCV004978646]|not provided [RCV002619255] |
Chr6:131884940 [GRCh38]
Chr6:132206080 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.889A>C (p.Asn297His) |
single nucleotide variant |
not provided [RCV002923893] |
Chr6:131860480 [GRCh38]
Chr6:132181620 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.430+3A>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005034351]|not provided [RCV002662522] |
Chr6:131850109 [GRCh38]
Chr6:132171249 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.556+11C>T |
single nucleotide variant |
not provided [RCV002795531] |
Chr6:131851278 [GRCh38]
Chr6:132172418 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1051T>C (p.Leu351=) |
single nucleotide variant |
not provided [RCV002591274] |
Chr6:131864531 [GRCh38]
Chr6:132185671 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2301G>C (p.Gln767His) |
single nucleotide variant |
not provided [RCV002866206] |
Chr6:131883764 [GRCh38]
Chr6:132204904 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.314-17T>C |
single nucleotide variant |
not provided [RCV003020539] |
Chr6:131849973 [GRCh38]
Chr6:132171113 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2461C>T (p.Arg821Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003162054]|not provided [RCV002637921] |
Chr6:131886578 [GRCh38]
Chr6:132207718 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.197C>T (p.Ala66Val) |
single nucleotide variant |
not provided [RCV002659142] |
Chr6:131808232 [GRCh38]
Chr6:132129372 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.716-10dup |
duplication |
not provided [RCV002999876] |
Chr6:131858651..131858652 [GRCh38]
Chr6:132179791..132179792 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.2451A>G (p.Arg817=) |
single nucleotide variant |
not provided [RCV002621971] |
Chr6:131886568 [GRCh38]
Chr6:132207708 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1724-5T>C |
single nucleotide variant |
not provided [RCV002780502] |
Chr6:131876987 [GRCh38]
Chr6:132198127 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2634T>G (p.Val878=) |
single nucleotide variant |
not provided [RCV003055030] |
Chr6:131890367 [GRCh38]
Chr6:132211507 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2712A>G (p.Arg904=) |
single nucleotide variant |
not provided [RCV002662459] |
Chr6:131890445 [GRCh38]
Chr6:132211585 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.282A>G (p.Ile94Met) |
single nucleotide variant |
not provided [RCV002590591] |
Chr6:131847817 [GRCh38]
Chr6:132168957 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1803G>A (p.Thr601=) |
single nucleotide variant |
not provided [RCV003005242] |
Chr6:131877071 [GRCh38]
Chr6:132198211 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1635A>G (p.Gln545=) |
single nucleotide variant |
not provided [RCV003008113] |
Chr6:131874337 [GRCh38]
Chr6:132195477 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.716-10del |
deletion |
not provided [RCV002666952] |
Chr6:131858652 [GRCh38]
Chr6:132179792 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.313+16T>G |
single nucleotide variant |
not provided [RCV002790899] |
Chr6:131847864 [GRCh38]
Chr6:132169004 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.615A>C (p.Ala205=) |
single nucleotide variant |
not provided [RCV002805321] |
Chr6:131852233 [GRCh38]
Chr6:132173373 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2345G>A (p.Arg782Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004973634]|not provided [RCV002790504] |
Chr6:131884964 [GRCh38]
Chr6:132206104 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.1700T>C (p.Ile567Thr) |
single nucleotide variant |
not provided [RCV002745403] |
Chr6:131875840 [GRCh38]
Chr6:132196980 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1107T>C (p.Thr369=) |
single nucleotide variant |
not provided [RCV002597269] |
Chr6:131864881 [GRCh38]
Chr6:132186021 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2475T>G (p.Ile825Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004973644]|not provided [RCV002800618] |
Chr6:131886592 [GRCh38]
Chr6:132207732 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.556+18C>G |
single nucleotide variant |
not provided [RCV002663353] |
Chr6:131851285 [GRCh38]
Chr6:132172425 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1026-9T>G |
single nucleotide variant |
not provided [RCV003041800] |
Chr6:131864497 [GRCh38]
Chr6:132185637 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.165G>T (p.Val55=) |
single nucleotide variant |
not provided [RCV002741913] |
Chr6:131808200 [GRCh38]
Chr6:132129340 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1902G>A (p.Pro634=) |
single nucleotide variant |
not provided [RCV002642818] |
Chr6:131878550 [GRCh38]
Chr6:132199690 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.491G>A (p.Cys164Tyr) |
single nucleotide variant |
not provided [RCV003024585] |
Chr6:131851202 [GRCh38]
Chr6:132172342 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1026-3T>A |
single nucleotide variant |
not provided [RCV002663269] |
Chr6:131864503 [GRCh38]
Chr6:132185643 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1635+16A>G |
single nucleotide variant |
not provided [RCV002594296]|not specified [RCV003388122] |
Chr6:131874353 [GRCh38]
Chr6:132195493 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.895G>C (p.Glu299Gln) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005034573]|not provided [RCV003005389] |
Chr6:131860486 [GRCh38]
Chr6:132181626 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2699T>C (p.Phe900Ser) |
single nucleotide variant |
not provided [RCV002700874] |
Chr6:131890432 [GRCh38]
Chr6:132211572 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2444+20C>G |
single nucleotide variant |
not provided [RCV003059626] |
Chr6:131885083 [GRCh38]
Chr6:132206223 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2156C>T (p.Pro719Leu) |
single nucleotide variant |
not provided [RCV002663722] |
Chr6:131882400 [GRCh38]
Chr6:132203540 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1406-6C>T |
single nucleotide variant |
not provided [RCV002917419] |
Chr6:131872064 [GRCh38]
Chr6:132193204 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.716-4C>A |
single nucleotide variant |
not provided [RCV002596739] |
Chr6:131858664 [GRCh38]
Chr6:132179804 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2161A>G (p.Ser721Gly) |
single nucleotide variant |
not provided [RCV002626070] |
Chr6:131882405 [GRCh38]
Chr6:132203545 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2253A>G (p.Gly751=) |
single nucleotide variant |
not provided [RCV002828639] |
Chr6:131883716 [GRCh38]
Chr6:132204856 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.716-6T>C |
single nucleotide variant |
Inborn genetic diseases [RCV002873797] |
Chr6:131858662 [GRCh38]
Chr6:132179802 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1092-9T>A |
single nucleotide variant |
not provided [RCV002850905] |
Chr6:131864857 [GRCh38]
Chr6:132185997 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2185T>C (p.Tyr729His) |
single nucleotide variant |
not provided [RCV002700070] |
Chr6:131882429 [GRCh38]
Chr6:132203569 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.240+8C>T |
single nucleotide variant |
not provided [RCV002625771] |
Chr6:131808283 [GRCh38]
Chr6:132129423 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2211C>T (p.Tyr737=) |
single nucleotide variant |
not provided [RCV002626193] |
Chr6:131882455 [GRCh38]
Chr6:132203595 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.219C>A (p.Asn73Lys) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005036576]|Inborn genetic diseases [RCV002891437]|not provided [RCV005059335] |
Chr6:131808254 [GRCh38]
Chr6:132129394 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.145T>A (p.Leu49Met) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005045304]|Inborn genetic diseases [RCV004068750]|not provided [RCV002582065] |
Chr6:131808180 [GRCh38]
Chr6:132129320 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.413A>G (p.Glu138Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV005333319]|not provided [RCV002716006] |
Chr6:131850089 [GRCh38]
Chr6:132171229 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1465C>T (p.Pro489Ser) |
single nucleotide variant |
not provided [RCV002770542] |
Chr6:131872950 [GRCh38]
Chr6:132194090 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2663G>A (p.Arg888Gln) |
single nucleotide variant |
not provided [RCV002676330] |
Chr6:131890396 [GRCh38]
Chr6:132211536 [GRCh37]
Chr6:6q23.2 |
likely pathogenic|uncertain significance |
| NM_006208.3(ENPP1):c.1438-3C>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005034448]|not provided [RCV002877407] |
Chr6:131872920 [GRCh38]
Chr6:132194060 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1290T>C (p.Ser430=) |
single nucleotide variant |
not provided [RCV002811204] |
Chr6:131869374 [GRCh38]
Chr6:132190514 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2466C>G (p.Asn822Lys) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005036546]|Inborn genetic diseases [RCV002747573] |
Chr6:131886583 [GRCh38]
Chr6:132207723 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2101-9G>A |
single nucleotide variant |
not provided [RCV003063297]|not specified [RCV004690357] |
Chr6:131882336 [GRCh38]
Chr6:132203476 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1538A>G (p.Tyr513Cys) |
single nucleotide variant |
not provided [RCV003060083] |
Chr6:131873023 [GRCh38]
Chr6:132194163 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1792C>G (p.Pro598Ala) |
single nucleotide variant |
not provided [RCV003086406] |
Chr6:131877060 [GRCh38]
Chr6:132198200 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1266A>T (p.Ser422=) |
single nucleotide variant |
not provided [RCV002578884] |
Chr6:131868119 [GRCh38]
Chr6:132189259 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.55G>A (p.Ala19Thr) |
single nucleotide variant |
not provided [RCV002746670] |
Chr6:131808090 [GRCh38]
Chr6:132129230 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.502G>C (p.Asp168His) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005034538]|not provided [RCV002963235] |
Chr6:131851213 [GRCh38]
Chr6:132172353 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2531C>T (p.Thr844Met) |
single nucleotide variant |
not provided [RCV002922171]|not specified [RCV004782972] |
Chr6:131886648 [GRCh38]
Chr6:132207788 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1438-3C>T |
single nucleotide variant |
not provided [RCV003088772] |
Chr6:131872920 [GRCh38]
Chr6:132194060 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.556+12G>A |
single nucleotide variant |
not provided [RCV002630178] |
Chr6:131851279 [GRCh38]
Chr6:132172419 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2471A>G (p.Glu824Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002719139]|not provided [RCV003777704] |
Chr6:131886588 [GRCh38]
Chr6:132207728 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1412A>G (p.Tyr471Cys) |
single nucleotide variant |
not provided [RCV003060082] |
Chr6:131872076 [GRCh38]
Chr6:132193216 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.1846T>C (p.Phe616Leu) |
single nucleotide variant |
not provided [RCV002746277] |
Chr6:131877114 [GRCh38]
Chr6:132198254 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2713_2717del (p.Lys905fs) |
microsatellite |
not provided [RCV003060084] |
Chr6:131890441..131890445 [GRCh38]
Chr6:132211581..132211585 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.523G>A (p.Asp175Asn) |
single nucleotide variant |
ENPP1-related disorder [RCV004538872]|Inborn genetic diseases [RCV002940248]|not provided [RCV003108196] |
Chr6:131851234 [GRCh38]
Chr6:132172374 [GRCh37]
Chr6:6q23.2 |
benign|uncertain significance |
| NM_006208.3(ENPP1):c.1503T>C (p.Phe501=) |
single nucleotide variant |
not provided [RCV003047877] |
Chr6:131872988 [GRCh38]
Chr6:132194128 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2212G>A (p.Gly738Arg) |
single nucleotide variant |
not provided [RCV002649277] |
Chr6:131882456 [GRCh38]
Chr6:132203596 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1427G>A (p.Arg476Gln) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005034708]|Inborn genetic diseases [RCV002598807]|not provided [RCV002584954] |
Chr6:131872091 [GRCh38]
Chr6:132193231 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.934T>C (p.Tyr312His) |
single nucleotide variant |
not provided [RCV002631866] |
Chr6:131861613 [GRCh38]
Chr6:132182753 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1857C>T (p.Asn619=) |
single nucleotide variant |
not provided [RCV002857158] |
Chr6:131877125 [GRCh38]
Chr6:132198265 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2760C>T (p.Thr920=) |
single nucleotide variant |
not provided [RCV002856856] |
Chr6:131890493 [GRCh38]
Chr6:132211633 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2676T>G (p.Val892=) |
single nucleotide variant |
not provided [RCV002811148] |
Chr6:131890409 [GRCh38]
Chr6:132211549 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2591A>T (p.Asn864Ile) |
single nucleotide variant |
not provided [RCV003045266] |
Chr6:131886708 [GRCh38]
Chr6:132207848 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2311+6T>A |
single nucleotide variant |
Inborn genetic diseases [RCV002831381] |
Chr6:131883780 [GRCh38]
Chr6:132204920 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.314-16C>T |
single nucleotide variant |
not provided [RCV002580558] |
Chr6:131849974 [GRCh38]
Chr6:132171114 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2496T>C (p.Phe832=) |
single nucleotide variant |
not provided [RCV003087123] |
Chr6:131886613 [GRCh38]
Chr6:132207753 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.1367G>T (p.Arg456Leu) |
single nucleotide variant |
not provided [RCV002900197] |
Chr6:131869451 [GRCh38]
Chr6:132190591 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2286A>T (p.Ile762=) |
single nucleotide variant |
not provided [RCV003087472] |
Chr6:131883749 [GRCh38]
Chr6:132204889 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.314-4dup |
duplication |
not provided [RCV002770825] |
Chr6:131849980..131849981 [GRCh38]
Chr6:132171120..132171121 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.715+1G>C |
single nucleotide variant |
not provided [RCV003060523] |
Chr6:131855024 [GRCh38]
Chr6:132176164 [GRCh37]
Chr6:6q23.2 |
pathogenic|likely pathogenic |
| NM_006208.3(ENPP1):c.2231-17C>T |
single nucleotide variant |
not provided [RCV002576996] |
Chr6:131883677 [GRCh38]
Chr6:132204817 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2100+8T>A |
single nucleotide variant |
not provided [RCV003050020] |
Chr6:131880042 [GRCh38]
Chr6:132201182 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1405T>C (p.Phe469Leu) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005045258]|not provided [RCV003069815] |
Chr6:131869489 [GRCh38]
Chr6:132190629 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2024C>G (p.Ser675Cys) |
single nucleotide variant |
not provided [RCV003069820] |
Chr6:131879958 [GRCh38]
Chr6:132201098 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1423G>A (p.Ala475Thr) |
single nucleotide variant |
not provided [RCV002814692] |
Chr6:131872087 [GRCh38]
Chr6:132193227 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1893+10G>A |
single nucleotide variant |
not provided [RCV002658403] |
Chr6:131877171 [GRCh38]
Chr6:132198311 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1444G>C (p.Glu482Gln) |
single nucleotide variant |
not provided [RCV003069100] |
Chr6:131872929 [GRCh38]
Chr6:132194069 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2191A>C (p.Asn731His) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005045390]|Inborn genetic diseases [RCV002722273]|not provided [RCV003561078] |
Chr6:131882435 [GRCh38]
Chr6:132203575 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.430+13A>C |
single nucleotide variant |
not provided [RCV002587776] |
Chr6:131850119 [GRCh38]
Chr6:132171259 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.87C>G (p.Arg29=) |
single nucleotide variant |
not provided [RCV002603943] |
Chr6:131808122 [GRCh38]
Chr6:132129262 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1893+9C>T |
single nucleotide variant |
not provided [RCV002585348] |
Chr6:131877170 [GRCh38]
Chr6:132198310 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1A>G (p.Met1Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002590244]|not provided [RCV002590243] |
Chr6:131808036 [GRCh38]
Chr6:132129176 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.229G>A (p.Val77Ile) |
single nucleotide variant |
not provided [RCV002658131] |
Chr6:131808264 [GRCh38]
Chr6:132129404 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.556+17G>T |
single nucleotide variant |
not provided [RCV002608984] |
Chr6:131851284 [GRCh38]
Chr6:132172424 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1894-19G>C |
single nucleotide variant |
not provided [RCV002634892] |
Chr6:131878523 [GRCh38]
Chr6:132199663 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.136G>T (p.Ala46Ser) |
single nucleotide variant |
not provided [RCV002606598] |
Chr6:131808171 [GRCh38]
Chr6:132129311 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.732T>C (p.Tyr244=) |
single nucleotide variant |
not provided [RCV002721443] |
Chr6:131858684 [GRCh38]
Chr6:132179824 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.713T>C (p.Leu238Pro) |
single nucleotide variant |
not provided [RCV003147053] |
Chr6:131855021 [GRCh38]
Chr6:132176161 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2416C>T (p.Arg806Cys) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005036678]|not provided [RCV003147054] |
Chr6:131885035 [GRCh38]
Chr6:132206175 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1092-42A>G |
single nucleotide variant |
not provided [RCV003147052] |
Chr6:131864824 [GRCh38]
Chr6:132185964 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2746del (p.Thr916fs) |
deletion |
Arterial calcification, generalized, of infancy, 1 [RCV003320394] |
Chr6:131890476 [GRCh38]
Chr6:132211616 [GRCh37]
Chr6:6q23.2 |
likely pathogenic |
| NM_006208.3(ENPP1):c.583T>C (p.Cys195Arg) |
single nucleotide variant |
ENPP1-related disorder [RCV004540644]|not provided [RCV003329825] |
Chr6:131852201 [GRCh38]
Chr6:132173341 [GRCh37]
Chr6:6q23.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_006208.3(ENPP1):c.1827C>G (p.His609Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003341461]|not provided [RCV003777525] |
Chr6:131877095 [GRCh38]
Chr6:132198235 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.203C>A (p.Thr68Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003376957]|not provided [RCV005104165] |
Chr6:131808238 [GRCh38]
Chr6:132129378 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.439T>C (p.Trp147Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003378017] |
Chr6:131851150 [GRCh38]
Chr6:132172290 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1931T>G (p.Leu644Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003371188] |
Chr6:131878579 [GRCh38]
Chr6:132199719 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1332del (p.Asn446fs) |
deletion |
not provided [RCV003569606] |
Chr6:131869415 [GRCh38]
Chr6:132190555 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.61C>T (p.Arg21Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004981119]|not provided [RCV003873644] |
Chr6:131808096 [GRCh38]
Chr6:132129236 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.58C>T (p.Pro20Ser) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005036955]|not provided [RCV003712555] |
Chr6:131808093 [GRCh38]
Chr6:132129233 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.617+19G>A |
single nucleotide variant |
not provided [RCV003872770] |
Chr6:131852254 [GRCh38]
Chr6:132173394 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2091G>A (p.Val697=) |
single nucleotide variant |
not provided [RCV003569142] |
Chr6:131880025 [GRCh38]
Chr6:132201165 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| GRCh37/hg19 6q23.2(chr6:131624205-132219490)x3 |
copy number gain |
not provided [RCV003484651] |
Chr6:131624205..132219490 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1 |
copy number loss |
not provided [RCV003482930] |
Chr6:120218852..137160850 [GRCh37]
Chr6:6q22.31-23.3 |
pathogenic |
| NM_006208.3(ENPP1):c.1724-1G>T |
single nucleotide variant |
Hypophosphatemic rickets, autosomal recessive, 2 [RCV004545899] |
Chr6:131876991 [GRCh38]
Chr6:132198131 [GRCh37]
Chr6:6q23.2 |
likely pathogenic|benign |
| NM_006208.3(ENPP1):c.195_197delinsAA (p.Ala66fs) |
indel |
Hypophosphatemic rickets, autosomal recessive, 2 [RCV004545898] |
Chr6:131808230..131808232 [GRCh38]
Chr6:132129370..132129372 [GRCh37]
Chr6:6q23.2 |
likely pathogenic|benign |
| NM_006208.3(ENPP1):c.2230+5G>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV003482924] |
Chr6:131882479 [GRCh38]
Chr6:132203619 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.2230+18C>G |
single nucleotide variant |
not specified [RCV003405103] |
Chr6:131882492 [GRCh38]
Chr6:132203632 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.556+2T>G |
single nucleotide variant |
ENPP1-related disorder [RCV004534333] |
Chr6:131851269 [GRCh38]
Chr6:132172409 [GRCh37]
Chr6:6q23.2 |
likely pathogenic |
| NM_006208.3(ENPP1):c.88G>T (p.Asp30Tyr) |
single nucleotide variant |
ENPP1-related disorder [RCV004534316]|not provided [RCV003679206] |
Chr6:131808123 [GRCh38]
Chr6:132129263 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1855A>G (p.Asn619Asp) |
single nucleotide variant |
not provided [RCV003739042] |
Chr6:131877123 [GRCh38]
Chr6:132198263 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.612A>G (p.Pro204=) |
single nucleotide variant |
not provided [RCV003576964] |
Chr6:131852230 [GRCh38]
Chr6:132173370 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1506T>C (p.Ala502=) |
single nucleotide variant |
not provided [RCV003849173] |
Chr6:131872991 [GRCh38]
Chr6:132194131 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2556C>T (p.Asp852=) |
single nucleotide variant |
not provided [RCV003739957] |
Chr6:131886673 [GRCh38]
Chr6:132207813 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.331C>T (p.Arg111Cys) |
single nucleotide variant |
not provided [RCV003831479] |
Chr6:131850007 [GRCh38]
Chr6:132171147 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.193C>G (p.Arg65Gly) |
single nucleotide variant |
not provided [RCV003877250] |
Chr6:131808228 [GRCh38]
Chr6:132129368 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2330A>C (p.His777Pro) |
single nucleotide variant |
not provided [RCV003545369] |
Chr6:131884949 [GRCh38]
Chr6:132206089 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.617+10T>C |
single nucleotide variant |
not provided [RCV003694833] |
Chr6:131852245 [GRCh38]
Chr6:132173385 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2373C>G (p.Val791=) |
single nucleotide variant |
not provided [RCV003688455] |
Chr6:131884992 [GRCh38]
Chr6:132206132 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2312-12A>G |
single nucleotide variant |
not provided [RCV003712798] |
Chr6:131884919 [GRCh38]
Chr6:132206059 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1159A>C (p.Ser387Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004621836]|not provided [RCV003576231] |
Chr6:131864933 [GRCh38]
Chr6:132186073 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1870C>T (p.Leu624Phe) |
single nucleotide variant |
not provided [RCV003692956] |
Chr6:131877138 [GRCh38]
Chr6:132198278 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.531C>T (p.Cys177=) |
single nucleotide variant |
not provided [RCV003827409] |
Chr6:131851242 [GRCh38]
Chr6:132172382 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2252del (p.Gly751fs) |
deletion |
not provided [RCV003694616] |
Chr6:131883714 [GRCh38]
Chr6:132204854 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.378T>A (p.Cys126Ter) |
single nucleotide variant |
not provided [RCV003489361] |
Chr6:131850054 [GRCh38]
Chr6:132171194 [GRCh37]
Chr6:6q23.2 |
likely pathogenic |
| NM_006208.3(ENPP1):c.501A>T (p.Ser167=) |
single nucleotide variant |
not provided [RCV003689185] |
Chr6:131851212 [GRCh38]
Chr6:132172352 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.250G>A (p.Val84Ile) |
single nucleotide variant |
not provided [RCV003574285] |
Chr6:131847785 [GRCh38]
Chr6:132168925 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1882T>A (p.Cys628Ser) |
single nucleotide variant |
not provided [RCV003547436] |
Chr6:131877150 [GRCh38]
Chr6:132198290 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2445-5T>A |
single nucleotide variant |
not provided [RCV003688655] |
Chr6:131886557 [GRCh38]
Chr6:132207697 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.516_517delinsGC (p.Asp172_Lys173delinsGluGln) |
indel |
not provided [RCV003686705] |
Chr6:131851227..131851228 [GRCh38]
Chr6:132172367..132172368 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1144T>A (p.Tyr382Asn) |
single nucleotide variant |
not provided [RCV003690205] |
Chr6:131864918 [GRCh38]
Chr6:132186058 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1804C>T (p.Pro602Ser) |
single nucleotide variant |
not provided [RCV003717708] |
Chr6:131877072 [GRCh38]
Chr6:132198212 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.428C>G (p.Pro143Arg) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005038552]|not provided [RCV003835342] |
Chr6:131850104 [GRCh38]
Chr6:132171244 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1321T>C (p.Leu441=) |
single nucleotide variant |
not provided [RCV003811180] |
Chr6:131869405 [GRCh38]
Chr6:132190545 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2100+15C>T |
single nucleotide variant |
not provided [RCV003811321] |
Chr6:131880049 [GRCh38]
Chr6:132201189 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1565T>G (p.Leu522Trp) |
single nucleotide variant |
not provided [RCV003549143] |
Chr6:131873050 [GRCh38]
Chr6:132194190 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1164+7A>C |
single nucleotide variant |
not provided [RCV003832219] |
Chr6:131864945 [GRCh38]
Chr6:132186085 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1406-8C>T |
single nucleotide variant |
not provided [RCV003699158] |
Chr6:131872062 [GRCh38]
Chr6:132193202 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2405A>G (p.Asp802Gly) |
single nucleotide variant |
not provided [RCV003699795] |
Chr6:131885024 [GRCh38]
Chr6:132206164 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.958T>C (p.Phe320Leu) |
single nucleotide variant |
not provided [RCV003833091] |
Chr6:131861637 [GRCh38]
Chr6:132182777 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2029C>A (p.His677Asn) |
single nucleotide variant |
not provided [RCV003835349] |
Chr6:131879963 [GRCh38]
Chr6:132201103 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1581G>C (p.Arg527Ser) |
single nucleotide variant |
not provided [RCV003703216] |
Chr6:131874283 [GRCh38]
Chr6:132195423 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.459G>A (p.Arg153=) |
single nucleotide variant |
not provided [RCV003816674] |
Chr6:131851170 [GRCh38]
Chr6:132172310 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.2532G>A (p.Thr844=) |
single nucleotide variant |
not provided [RCV003559012]|not specified [RCV004783073] |
Chr6:131886649 [GRCh38]
Chr6:132207789 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1743G>A (p.Pro581=) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005036972]|not provided [RCV003724840] |
Chr6:131877011 [GRCh38]
Chr6:132198151 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.1407T>C (p.Phe469=) |
single nucleotide variant |
not provided [RCV003703448] |
Chr6:131872071 [GRCh38]
Chr6:132193211 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.200G>A (p.Arg67His) |
single nucleotide variant |
not provided [RCV003702465] |
Chr6:131808235 [GRCh38]
Chr6:132129375 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.494C>T (p.Ala165Val) |
single nucleotide variant |
not provided [RCV003667552] |
Chr6:131851205 [GRCh38]
Chr6:132172345 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.766A>G (p.Thr256Ala) |
single nucleotide variant |
not provided [RCV003673422] |
Chr6:131858718 [GRCh38]
Chr6:132179858 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2187T>C (p.Tyr729=) |
single nucleotide variant |
not provided [RCV003851911] |
Chr6:131882431 [GRCh38]
Chr6:132203571 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1563A>C (p.Ala521=) |
single nucleotide variant |
not provided [RCV003837686] |
Chr6:131873048 [GRCh38]
Chr6:132194188 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.430+20A>G |
single nucleotide variant |
not provided [RCV003702715] |
Chr6:131850126 [GRCh38]
Chr6:132171266 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.125A>C (p.Asp42Ala) |
single nucleotide variant |
not provided [RCV003549733] |
Chr6:131808160 [GRCh38]
Chr6:132129300 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2031C>G (p.His677Gln) |
single nucleotide variant |
not provided [RCV003559026] |
Chr6:131879965 [GRCh38]
Chr6:132201105 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.430+5G>C |
single nucleotide variant |
not provided [RCV003668739] |
Chr6:131850111 [GRCh38]
Chr6:132171251 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1560T>A (p.Leu520=) |
single nucleotide variant |
not provided [RCV003837685] |
Chr6:131873045 [GRCh38]
Chr6:132194185 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.855T>A (p.Asn285Lys) |
single nucleotide variant |
not provided [RCV003816536] |
Chr6:131860446 [GRCh38]
Chr6:132181586 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2631G>A (p.Trp877Ter) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005038577]|not provided [RCV003850053] |
Chr6:131890364 [GRCh38]
Chr6:132211504 [GRCh37]
Chr6:6q23.2 |
pathogenic|likely pathogenic |
| NM_006208.3(ENPP1):c.240+20C>T |
single nucleotide variant |
not provided [RCV003672178] |
Chr6:131808295 [GRCh38]
Chr6:132129435 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1030G>T (p.Val344Leu) |
single nucleotide variant |
not provided [RCV003667771] |
Chr6:131864510 [GRCh38]
Chr6:132185650 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2607+16A>G |
single nucleotide variant |
not provided [RCV003854560] |
Chr6:131886740 [GRCh38]
Chr6:132207880 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2010C>T (p.Thr670=) |
single nucleotide variant |
not provided [RCV003852426] |
Chr6:131879944 [GRCh38]
Chr6:132201084 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2662C>T (p.Arg888Trp) |
single nucleotide variant |
not provided [RCV003559337] |
Chr6:131890395 [GRCh38]
Chr6:132211535 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.2068C>G (p.Pro690Ala) |
single nucleotide variant |
not provided [RCV003854631] |
Chr6:131880002 [GRCh38]
Chr6:132201142 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.448A>C (p.Asn150His) |
single nucleotide variant |
not provided [RCV003666467] |
Chr6:131851159 [GRCh38]
Chr6:132172299 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.314-11A>G |
single nucleotide variant |
not provided [RCV003814850] |
Chr6:131849979 [GRCh38]
Chr6:132171119 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.265A>G (p.Thr89Ala) |
single nucleotide variant |
not provided [RCV003699602] |
Chr6:131847800 [GRCh38]
Chr6:132168940 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1867A>T (p.Asn623Tyr) |
single nucleotide variant |
not provided [RCV003863922] |
Chr6:131877135 [GRCh38]
Chr6:132198275 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2500G>A (p.Val834Met) |
single nucleotide variant |
not provided [RCV003860908] |
Chr6:131886617 [GRCh38]
Chr6:132207757 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.430+19A>G |
single nucleotide variant |
not provided [RCV003840991] |
Chr6:131850125 [GRCh38]
Chr6:132171265 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2312-5_2313del |
deletion |
not provided [RCV003707117] |
Chr6:131884925..131884931 [GRCh38]
Chr6:132206065..132206071 [GRCh37]
Chr6:6q23.2 |
likely pathogenic |
| NM_006208.3(ENPP1):c.328G>A (p.Gly110Ser) |
single nucleotide variant |
not provided [RCV003553223] |
Chr6:131850004 [GRCh38]
Chr6:132171144 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2192A>G (p.Asn731Ser) |
single nucleotide variant |
not provided [RCV003728929] |
Chr6:131882436 [GRCh38]
Chr6:132203576 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.988A>G (p.Asn330Asp) |
single nucleotide variant |
not provided [RCV003706268] |
Chr6:131861667 [GRCh38]
Chr6:132182807 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.776A>G (p.Asn259Ser) |
single nucleotide variant |
not provided [RCV003844580] |
Chr6:131858728 [GRCh38]
Chr6:132179868 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.436A>C (p.Ile146Leu) |
single nucleotide variant |
not provided [RCV003551607] |
Chr6:131851147 [GRCh38]
Chr6:132172287 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1719G>A (p.Met573Ile) |
single nucleotide variant |
not provided [RCV003681697] |
Chr6:131875859 [GRCh38]
Chr6:132196999 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.454T>G (p.Phe152Val) |
single nucleotide variant |
not provided [RCV003820659] |
Chr6:131851165 [GRCh38]
Chr6:132172305 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.826G>A (p.Asp276Asn) |
single nucleotide variant |
not provided [RCV003555309] |
Chr6:131860417 [GRCh38]
Chr6:132181557 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3 |
copy number gain |
not specified [RCV003986663] |
Chr6:131569837..145572239 [GRCh37]
Chr6:6q23.2-24.2 |
pathogenic |
| NM_006208.3(ENPP1):c.2633T>G (p.Val878Gly) |
single nucleotide variant |
not provided [RCV003685826] |
Chr6:131890366 [GRCh38]
Chr6:132211506 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1973C>T (p.Pro658Leu) |
single nucleotide variant |
not provided [RCV003868311] |
Chr6:131879907 [GRCh38]
Chr6:132201047 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3 |
copy number gain |
not specified [RCV003986631] |
Chr6:119840686..156623091 [GRCh37]
Chr6:6q22.31-25.3 |
pathogenic |
| NM_006208.3(ENPP1):c.2756C>T (p.Pro919Leu) |
single nucleotide variant |
not provided [RCV003564338] |
Chr6:131890489 [GRCh38]
Chr6:132211629 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.117G>T (p.Ala39=) |
single nucleotide variant |
not provided [RCV003729114] |
Chr6:131808152 [GRCh38]
Chr6:132129292 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2311+5A>C |
single nucleotide variant |
not provided [RCV003685077] |
Chr6:131883779 [GRCh38]
Chr6:132204919 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.134C>A (p.Ala45Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004374263]|not provided [RCV003732392] |
Chr6:131808169 [GRCh38]
Chr6:132129309 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1062T>C (p.Leu354=) |
single nucleotide variant |
not provided [RCV003542146] |
Chr6:131864542 [GRCh38]
Chr6:132185682 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1442G>A (p.Arg481Gln) |
single nucleotide variant |
not provided [RCV003555310] |
Chr6:131872927 [GRCh38]
Chr6:132194067 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1755C>T (p.Asn585=) |
single nucleotide variant |
not provided [RCV003869534] |
Chr6:131877023 [GRCh38]
Chr6:132198163 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1300T>C (p.Tyr434His) |
single nucleotide variant |
not provided [RCV003822686] |
Chr6:131869384 [GRCh38]
Chr6:132190524 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.98G>A (p.Arg33His) |
single nucleotide variant |
not provided [RCV003566914] |
Chr6:131808133 [GRCh38]
Chr6:132129273 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1039G>A (p.Glu347Lys) |
single nucleotide variant |
not provided [RCV003862011] |
Chr6:131864519 [GRCh38]
Chr6:132185659 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1892C>T (p.Ser631Leu) |
single nucleotide variant |
not provided [RCV003728834] |
Chr6:131877160 [GRCh38]
Chr6:132198300 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.34C>G (p.Arg12Gly) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005038568]|not provided [RCV003847916] |
Chr6:131808069 [GRCh38]
Chr6:132129209 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.149T>C (p.Leu50Pro) |
single nucleotide variant |
not provided [RCV003556750] |
Chr6:131808184 [GRCh38]
Chr6:132129324 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.430+17A>G |
single nucleotide variant |
not provided [RCV003820197] |
Chr6:131850123 [GRCh38]
Chr6:132171263 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.105C>T (p.His35=) |
single nucleotide variant |
not provided [RCV003733448] |
Chr6:131808140 [GRCh38]
Chr6:132129280 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.897G>A (p.Glu299=) |
single nucleotide variant |
not provided [RCV003728141] |
Chr6:131860488 [GRCh38]
Chr6:132181628 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.6G>A (p.Glu2=) |
single nucleotide variant |
not provided [RCV003567472] |
Chr6:131808041 [GRCh38]
Chr6:132129181 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.664G>A (p.Ala222Thr) |
single nucleotide variant |
not provided [RCV003681327] |
Chr6:131854972 [GRCh38]
Chr6:132176112 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.546T>C (p.Ser182=) |
single nucleotide variant |
not provided [RCV003842074] |
Chr6:131851257 [GRCh38]
Chr6:132172397 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.416C>T (p.Thr139Met) |
single nucleotide variant |
not provided [RCV003824034] |
Chr6:131850092 [GRCh38]
Chr6:132171232 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1997A>G (p.Gln666Arg) |
single nucleotide variant |
not provided [RCV003677186] |
Chr6:131879931 [GRCh38]
Chr6:132201071 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.249A>G (p.Ser83=) |
single nucleotide variant |
not provided [RCV003709652] |
Chr6:131847784 [GRCh38]
Chr6:132168924 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2371G>A (p.Val791Ile) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005038589]|not provided [RCV003859844] |
Chr6:131884990 [GRCh38]
Chr6:132206130 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2236A>T (p.Asn746Tyr) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005038538]|not provided [RCV003823015] |
Chr6:131883699 [GRCh38]
Chr6:132204839 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1945+19T>C |
single nucleotide variant |
not provided [RCV003677524] |
Chr6:131878612 [GRCh38]
Chr6:132199752 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2625C>T (p.Ser875=) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005038529]|not provided [RCV003818721] |
Chr6:131890358 [GRCh38]
Chr6:132211498 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.2478G>C (p.Leu826Phe) |
single nucleotide variant |
not provided [RCV003550930] |
Chr6:131886595 [GRCh38]
Chr6:132207735 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2T>C (p.Met1Thr) |
single nucleotide variant |
not provided [RCV003732291] |
Chr6:131808037 [GRCh38]
Chr6:132129177 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1742C>T (p.Pro581Leu) |
single nucleotide variant |
Hypophosphatemic rickets [RCV004801443]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV004555385] |
Chr6:131877010 [GRCh38]
Chr6:132198150 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*6T>C |
single nucleotide variant |
ENPP1-related disorder [RCV004542537] |
Chr6:131890517 [GRCh38]
Chr6:132211657 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.301T>C (p.Cys101Arg) |
single nucleotide variant |
not provided [RCV003887638] |
Chr6:131847836 [GRCh38]
Chr6:132168976 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1701del (p.Ile567fs) |
deletion |
ENPP1-related disorder [RCV004542628] |
Chr6:131875840 [GRCh38]
Chr6:132196980 [GRCh37]
Chr6:6q23.2 |
likely pathogenic |
| NM_006208.3(ENPP1):c.2230+1G>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV003989094] |
Chr6:131882475 [GRCh38]
Chr6:132203615 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.1066T>A (p.Trp356Arg) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV003990491] |
Chr6:131864546 [GRCh38]
Chr6:132185686 [GRCh37]
Chr6:6q23.2 |
likely pathogenic |
| NM_006208.3(ENPP1):c.1825C>T (p.His609Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004382861] |
Chr6:131877093 [GRCh38]
Chr6:132198233 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.13G>C (p.Gly5Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004382856] |
Chr6:131808048 [GRCh38]
Chr6:132129188 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1477C>T (p.His493Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004382858] |
Chr6:131872962 [GRCh38]
Chr6:132194102 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1655G>A (p.Gly552Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004382860] |
Chr6:131875795 [GRCh38]
Chr6:132196935 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.46G>A (p.Gly16Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004382863] |
Chr6:131808081 [GRCh38]
Chr6:132129221 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1510A>C (p.Ser504Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004382859] |
Chr6:131872995 [GRCh38]
Chr6:132194135 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| GRCh37/hg19 6q22.33-23.2(chr6:129969121-132499298)x1 |
copy number loss |
not provided [RCV004577479] |
Chr6:129969121..132499298 [GRCh37]
Chr6:6q22.33-23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2754G>T (p.Leu918Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004625072] |
Chr6:131890487 [GRCh38]
Chr6:132211627 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.260T>C (p.Leu87Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004625073] |
Chr6:131847795 [GRCh38]
Chr6:132168935 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.280A>G (p.Ile94Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004625074] |
Chr6:131847815 [GRCh38]
Chr6:132168955 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1962T>A (p.His654Gln) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005038745]|Inborn genetic diseases [RCV004625070] |
Chr6:131879896 [GRCh38]
Chr6:132201036 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.2627C>T (p.Ser876Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004625071]|not provided [RCV005102177] |
Chr6:131890360 [GRCh38]
Chr6:132211500 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NC_000006.11:g.(?_131894423)_(133849943_?)del |
deletion |
not provided [RCV004578838] |
Chr6:131894423..133849943 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NC_000006.11:g.(?_132129176)_(132211651_?)dup |
duplication |
not provided [RCV004578839] |
Chr6:132129176..132211651 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1334A>C (p.Lys445Thr) |
single nucleotide variant |
not provided [RCV004727260] |
Chr6:131869418 [GRCh38]
Chr6:132190558 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2427C>T (p.Ser809=) |
single nucleotide variant |
ENPP1-related disorder [RCV004736101]|not provided [RCV005059894] |
Chr6:131885046 [GRCh38]
Chr6:132206186 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.602C>G (p.Pro201Arg) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005045554] |
Chr6:131852220 [GRCh38]
Chr6:132173360 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1025+14A>T |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005045555] |
Chr6:131861718 [GRCh38]
Chr6:132182858 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1418G>A (p.Gly473Asp) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005045557]|Inborn genetic diseases [RCV005325956] |
Chr6:131872082 [GRCh38]
Chr6:132193222 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2638G>A (p.Glu880Lys) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005045564] |
Chr6:131890371 [GRCh38]
Chr6:132211511 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1952T>C (p.Ile651Thr) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005045562] |
Chr6:131879886 [GRCh38]
Chr6:132201026 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2478G>T (p.Leu826Phe) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005045563] |
Chr6:131886595 [GRCh38]
Chr6:132207735 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.102C>G (p.Ser34Arg) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005040845]|Inborn genetic diseases [RCV004979808] |
Chr6:131808137 [GRCh38]
Chr6:132129277 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2417G>A (p.Arg806His) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005040844]|Inborn genetic diseases [RCV004979806] |
Chr6:131885036 [GRCh38]
Chr6:132206176 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.464G>A (p.Gly155Asp) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005045552] |
Chr6:131851175 [GRCh38]
Chr6:132172315 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.597T>A (p.Asn199Lys) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005045553] |
Chr6:131852215 [GRCh38]
Chr6:132173355 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1566-15A>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005045559]|not provided [RCV005063314] |
Chr6:131874253 [GRCh38]
Chr6:132195393 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.1777C>G (p.His593Asp) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005045560] |
Chr6:131877045 [GRCh38]
Chr6:132198185 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.167G>A (p.Gly56Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004979807] |
Chr6:131808202 [GRCh38]
Chr6:132129342 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.169G>C (p.Glu57Gln) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005045550]|not provided [RCV005105260] |
Chr6:131808204 [GRCh38]
Chr6:132129344 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.191C>T (p.Ala64Val) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005045551] |
Chr6:131808226 [GRCh38]
Chr6:132129366 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1120G>A (p.Glu374Lys) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005045556] |
Chr6:131864894 [GRCh38]
Chr6:132186034 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1811A>G (p.His604Arg) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005045561] |
Chr6:131877079 [GRCh38]
Chr6:132198219 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1991T>C (p.Val664Ala) |
single nucleotide variant |
not provided [RCV004823576] |
Chr6:131879925 [GRCh38]
Chr6:132201065 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1660G>A (p.Gly554Arg) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005038895]|Inborn genetic diseases [RCV004979805] |
Chr6:131875800 [GRCh38]
Chr6:132196940 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1678G>C (p.Glu560Gln) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005038896]|Inborn genetic diseases [RCV004979809] |
Chr6:131875818 [GRCh38]
Chr6:132196958 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| GRCh37/hg19 6q23.2(chr6:131624205-132219490)x1 |
copy number loss |
not provided [RCV004819799] |
Chr6:131624205..132219490 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.501A>G (p.Ser167=) |
single nucleotide variant |
not provided [RCV005067053] |
Chr6:131851212 [GRCh38]
Chr6:132172352 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.240+10C>G |
single nucleotide variant |
not provided [RCV005136336] |
Chr6:131808285 [GRCh38]
Chr6:132129425 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1492C>T (p.Arg498Cys) |
single nucleotide variant |
not provided [RCV005067680] |
Chr6:131872977 [GRCh38]
Chr6:132194117 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.529T>C (p.Cys177Arg) |
single nucleotide variant |
not provided [RCV005126798] |
Chr6:131851240 [GRCh38]
Chr6:132172380 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.2445-20A>G |
single nucleotide variant |
not provided [RCV005060250] |
Chr6:131886542 [GRCh38]
Chr6:132207682 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.644T>A (p.Phe215Tyr) |
single nucleotide variant |
not provided [RCV005129237] |
Chr6:131854952 [GRCh38]
Chr6:132176092 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.313+1G>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037863] |
Chr6:131847849 [GRCh38]
Chr6:132168989 [GRCh37]
Chr6:6q23.2 |
likely pathogenic |
| NM_006208.3(ENPP1):c.314-10A>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037864] |
Chr6:131849980 [GRCh38]
Chr6:132171120 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.340G>A (p.Glu114Lys) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037865] |
Chr6:131850016 [GRCh38]
Chr6:132171156 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.362G>T (p.Arg121Leu) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037866] |
Chr6:131850038 [GRCh38]
Chr6:132171178 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.590G>A (p.Ser197Asn) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037868] |
Chr6:131852208 [GRCh38]
Chr6:132173348 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.659T>A (p.Phe220Tyr) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037869] |
Chr6:131854967 [GRCh38]
Chr6:132176107 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1780C>T (p.Leu594Phe) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037882] |
Chr6:131877048 [GRCh38]
Chr6:132198188 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1880C>T (p.Ser627Leu) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037883] |
Chr6:131877148 [GRCh38]
Chr6:132198288 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2008A>G (p.Thr670Ala) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037884] |
Chr6:131879942 [GRCh38]
Chr6:132201082 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2052C>G (p.Ser684Arg) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037885] |
Chr6:131879986 [GRCh38]
Chr6:132201126 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2554G>C (p.Asp852His) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037900] |
Chr6:131886671 [GRCh38]
Chr6:132207811 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2596G>A (p.Glu866Lys) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037901]|not provided [RCV005063315] |
Chr6:131886713 [GRCh38]
Chr6:132207853 [GRCh37]
Chr6:6q23.2 |
likely pathogenic |
| NM_006208.3(ENPP1):c.2611G>A (p.Gly871Arg) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037902] |
Chr6:131890344 [GRCh38]
Chr6:132211484 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2774A>G (p.Asp925Gly) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037903] |
Chr6:131890507 [GRCh38]
Chr6:132211647 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1025+5G>A |
single nucleotide variant |
not provided [RCV005141425] |
Chr6:131861709 [GRCh38]
Chr6:132182849 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.556+6G>C |
single nucleotide variant |
not provided [RCV005141433] |
Chr6:131851273 [GRCh38]
Chr6:132172413 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1438-20T>C |
single nucleotide variant |
not provided [RCV005143021] |
Chr6:131872903 [GRCh38]
Chr6:132194043 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2200A>G (p.Lys734Glu) |
single nucleotide variant |
not provided [RCV005136072] |
Chr6:131882444 [GRCh38]
Chr6:132203584 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1989A>C (p.Arg663Ser) |
single nucleotide variant |
not provided [RCV005123216] |
Chr6:131879923 [GRCh38]
Chr6:132201063 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1809G>A (p.Lys603=) |
single nucleotide variant |
not provided [RCV005117159] |
Chr6:131877077 [GRCh38]
Chr6:132198217 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2T>G (p.Met1Arg) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037852] |
Chr6:131808037 [GRCh38]
Chr6:132129177 [GRCh37]
Chr6:6q23.2 |
likely pathogenic |
| NM_006208.3(ENPP1):c.742A>G (p.Met248Val) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037870] |
Chr6:131858694 [GRCh38]
Chr6:132179834 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.744G>A (p.Met248Ile) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037871] |
Chr6:131858696 [GRCh38]
Chr6:132179836 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1026-15T>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037874] |
Chr6:131864491 [GRCh38]
Chr6:132185631 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1723+5G>A |
single nucleotide variant |
not provided [RCV005124424] |
Chr6:131875868 [GRCh38]
Chr6:132197008 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2314A>C (p.Ile772Leu) |
single nucleotide variant |
not provided [RCV005064320] |
Chr6:131884933 [GRCh38]
Chr6:132206073 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1522G>A (p.Glu508Lys) |
single nucleotide variant |
not provided [RCV005116757] |
Chr6:131873007 [GRCh38]
Chr6:132194147 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1587T>C (p.Tyr529=) |
single nucleotide variant |
not provided [RCV005065465]|not specified [RCV005241081] |
Chr6:131874289 [GRCh38]
Chr6:132195429 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2426C>T (p.Ser809Phe) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037895]|not provided [RCV005105263] |
Chr6:131885045 [GRCh38]
Chr6:132206185 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1026T>A (p.Gly342=) |
single nucleotide variant |
not provided [RCV005123282] |
Chr6:131864506 [GRCh38]
Chr6:132185646 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.6del (p.Glu2fs) |
deletion |
Arterial calcification, generalized, of infancy, 1 [RCV005037853] |
Chr6:131808041 [GRCh38]
Chr6:132129181 [GRCh37]
Chr6:6q23.2 |
likely pathogenic |
| NM_006208.3(ENPP1):c.73G>C (p.Ala25Pro) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037854] |
Chr6:131808108 [GRCh38]
Chr6:132129248 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.82G>C (p.Gly28Arg) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037856]|not provided [RCV005105258] |
Chr6:131808117 [GRCh38]
Chr6:132129257 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.124del (p.Asp42fs) |
deletion |
Arterial calcification, generalized, of infancy, 1 [RCV005037857] |
Chr6:131808156 [GRCh38]
Chr6:132129296 [GRCh37]
Chr6:6q23.2 |
likely pathogenic |
| NM_006208.3(ENPP1):c.168G>T (p.Gly56=) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037858]|not provided [RCV005105259] |
Chr6:131808203 [GRCh38]
Chr6:132129343 [GRCh37]
Chr6:6q23.2 |
likely benign|uncertain significance |
| NM_006208.3(ENPP1):c.219C>G (p.Asn73Lys) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037860] |
Chr6:131808254 [GRCh38]
Chr6:132129394 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.274G>T (p.Gly92Cys) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037861] |
Chr6:131847809 [GRCh38]
Chr6:132168949 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.769_770del (p.Phe257fs) |
deletion |
Arterial calcification, generalized, of infancy, 1 [RCV005037872] |
Chr6:131858720..131858721 [GRCh38]
Chr6:132179860..132179861 [GRCh37]
Chr6:6q23.2 |
likely pathogenic |
| NM_006208.3(ENPP1):c.820A>T (p.Ile274Leu) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037873] |
Chr6:131860411 [GRCh38]
Chr6:132181551 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2100T>C (p.Asn700=) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037886] |
Chr6:131880034 [GRCh38]
Chr6:132201174 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2171A>G (p.His724Arg) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037888] |
Chr6:131882415 [GRCh38]
Chr6:132203555 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2183T>C (p.Phe728Ser) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037889] |
Chr6:131882427 [GRCh38]
Chr6:132203567 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2280A>T (p.Thr760=) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037890] |
Chr6:131883743 [GRCh38]
Chr6:132204883 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2297A>G (p.Tyr766Cys) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037891] |
Chr6:131883760 [GRCh38]
Chr6:132204900 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2312-1G>A |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037892] |
Chr6:131884930 [GRCh38]
Chr6:132206070 [GRCh37]
Chr6:6q23.2 |
likely pathogenic |
| NM_006208.3(ENPP1):c.2316A>G (p.Ile772Met) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037893] |
Chr6:131884935 [GRCh38]
Chr6:132206075 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2375A>G (p.Asn792Ser) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037894]|not provided [RCV005105262] |
Chr6:131884994 [GRCh38]
Chr6:132206134 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.304G>T (p.Ala102Ser) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037862] |
Chr6:131847839 [GRCh38]
Chr6:132168979 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1133C>T (p.Ser378Leu) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037876] |
Chr6:131864907 [GRCh38]
Chr6:132186047 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1303A>G (p.Ile435Val) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037877] |
Chr6:131869387 [GRCh38]
Chr6:132190527 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1379C>G (p.Ser460Cys) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037878] |
Chr6:131869463 [GRCh38]
Chr6:132190603 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1426C>T (p.Arg476Ter) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037879]|not provided [RCV005105261] |
Chr6:131872090 [GRCh38]
Chr6:132193230 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.1709A>G (p.Tyr570Cys) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037880] |
Chr6:131875849 [GRCh38]
Chr6:132196989 [GRCh37]
Chr6:6q23.2 |
likely pathogenic |
| NM_006208.3(ENPP1):c.837G>A (p.Met279Ile) |
single nucleotide variant |
not provided [RCV005069854] |
Chr6:131860428 [GRCh38]
Chr6:132181568 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1714_1715del (p.Leu572fs) |
deletion |
not provided [RCV005207786] |
Chr6:131875854..131875855 [GRCh38]
Chr6:132196994..132196995 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.1737G>T (p.Leu579Phe) |
single nucleotide variant |
not provided [RCV005163725] |
Chr6:131877005 [GRCh38]
Chr6:132198145 [GRCh37]
Chr6:6q23.2 |
likely pathogenic |
| NM_006208.3(ENPP1):c.1495T>C (p.Leu499=) |
single nucleotide variant |
not provided [RCV005172136] |
Chr6:131872980 [GRCh38]
Chr6:132194120 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.153C>T (p.Ala51=) |
single nucleotide variant |
not provided [RCV005172275] |
Chr6:131808188 [GRCh38]
Chr6:132129328 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.710A>G (p.Lys237Arg) |
single nucleotide variant |
not provided [RCV005190148] |
Chr6:131855018 [GRCh38]
Chr6:132176158 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2231-6_2231-5del |
deletion |
not provided [RCV005151757] |
Chr6:131883687..131883688 [GRCh38]
Chr6:132204827..132204828 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.323G>A (p.Cys108Tyr) |
single nucleotide variant |
not provided [RCV005166433] |
Chr6:131849999 [GRCh38]
Chr6:132171139 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2112T>C (p.Ser704=) |
single nucleotide variant |
not provided [RCV005192966] |
Chr6:131882356 [GRCh38]
Chr6:132203496 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2199C>G (p.Thr733=) |
single nucleotide variant |
not provided [RCV005169040] |
Chr6:131882443 [GRCh38]
Chr6:132203583 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.392A>G (p.Asn131Ser) |
single nucleotide variant |
not provided [RCV005072901] |
Chr6:131850068 [GRCh38]
Chr6:132171208 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1935T>C (p.Thr645=) |
single nucleotide variant |
not provided [RCV005072001] |
Chr6:131878583 [GRCh38]
Chr6:132199723 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.39C>T (p.Gly13=) |
single nucleotide variant |
not provided [RCV005155449] |
Chr6:131808074 [GRCh38]
Chr6:132129214 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1437+1G>C |
single nucleotide variant |
not provided [RCV005203116] |
Chr6:131872102 [GRCh38]
Chr6:132193242 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.132G>A (p.Gln44=) |
single nucleotide variant |
not provided [RCV005148862] |
Chr6:131808167 [GRCh38]
Chr6:132129307 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.298del (p.Ser100fs) |
deletion |
ENPP1-related disorder [RCV005250499] |
Chr6:131847832 [GRCh38]
Chr6:132168972 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.61C>A (p.Arg21=) |
single nucleotide variant |
not provided [RCV005184712] |
Chr6:131808096 [GRCh38]
Chr6:132129236 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.825C>T (p.Ile275=) |
single nucleotide variant |
not provided [RCV005191692] |
Chr6:131860416 [GRCh38]
Chr6:132181556 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2230+6T>C |
single nucleotide variant |
not provided [RCV005079089] |
Chr6:131882480 [GRCh38]
Chr6:132203620 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2100+13C>T |
single nucleotide variant |
not provided [RCV005167394] |
Chr6:131880047 [GRCh38]
Chr6:132201187 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2724T>G (p.Val908=) |
single nucleotide variant |
not provided [RCV005071356] |
Chr6:131890457 [GRCh38]
Chr6:132211597 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.994A>C (p.Ile332Leu) |
single nucleotide variant |
not provided [RCV005153290] |
Chr6:131861673 [GRCh38]
Chr6:132182813 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.134C>T (p.Ala45Val) |
single nucleotide variant |
not provided [RCV005079527] |
Chr6:131808169 [GRCh38]
Chr6:132129309 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1154T>A (p.Val385Asp) |
single nucleotide variant |
not provided [RCV005073416] |
Chr6:131864928 [GRCh38]
Chr6:132186068 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.431-16T>C |
single nucleotide variant |
not provided [RCV005080557] |
Chr6:131851126 [GRCh38]
Chr6:132172266 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.2120A>C (p.Asp707Ala) |
single nucleotide variant |
not provided [RCV005175508] |
Chr6:131882364 [GRCh38]
Chr6:132203504 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.5A>G (p.Glu2Gly) |
single nucleotide variant |
not provided [RCV005183208] |
Chr6:131808040 [GRCh38]
Chr6:132129180 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.91C>A (p.Arg31=) |
single nucleotide variant |
not provided [RCV005148972] |
Chr6:131808126 [GRCh38]
Chr6:132129266 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1893G>A (p.Ser631=) |
single nucleotide variant |
not provided [RCV005146518] |
Chr6:131877161 [GRCh38]
Chr6:132198301 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1893G>C (p.Ser631=) |
single nucleotide variant |
not provided [RCV005183862] |
Chr6:131877161 [GRCh38]
Chr6:132198301 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1636-12C>G |
single nucleotide variant |
not provided [RCV005169394] |
Chr6:131875764 [GRCh38]
Chr6:132196904 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1989A>G (p.Arg663=) |
single nucleotide variant |
not provided [RCV005169240] |
Chr6:131879923 [GRCh38]
Chr6:132201063 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.84C>A (p.Gly28=) |
single nucleotide variant |
not provided [RCV005147709] |
Chr6:131808119 [GRCh38]
Chr6:132129259 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.1165-16T>A |
single nucleotide variant |
not provided [RCV005151949] |
Chr6:131868002 [GRCh38]
Chr6:132189142 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.982G>A (p.Glu328Lys) |
single nucleotide variant |
not provided [RCV005193452] |
Chr6:131861661 [GRCh38]
Chr6:132182801 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.617+6A>G |
single nucleotide variant |
not provided [RCV005186272] |
Chr6:131852241 [GRCh38]
Chr6:132173381 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1092-2A>C |
single nucleotide variant |
not provided [RCV005199048] |
Chr6:131864864 [GRCh38]
Chr6:132186004 [GRCh37]
Chr6:6q23.2 |
likely pathogenic |
| NM_006208.3(ENPP1):c.1567A>T (p.Asn523Tyr) |
single nucleotide variant |
not provided [RCV005164783] |
Chr6:131874269 [GRCh38]
Chr6:132195409 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.129G>C (p.Pro43=) |
single nucleotide variant |
not provided [RCV005180372] |
Chr6:131808164 [GRCh38]
Chr6:132129304 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.976G>A (p.Asp326Asn) |
single nucleotide variant |
not provided [RCV005165605] |
Chr6:131861655 [GRCh38]
Chr6:132182795 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2778AT[1] (p.Ter926=) |
microsatellite |
not provided [RCV005151044] |
Chr6:131890511..131890512 [GRCh38]
Chr6:132211651..132211652 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1515T>C (p.Asp505=) |
single nucleotide variant |
not provided [RCV005071110] |
Chr6:131873000 [GRCh38]
Chr6:132194140 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.852G>T (p.Met284Ile) |
single nucleotide variant |
not provided [RCV005068651] |
Chr6:131860443 [GRCh38]
Chr6:132181583 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1186del (p.Val396fs) |
deletion |
Arterial calcification, generalized, of infancy, 1 [RCV005360438] |
Chr6:131868037 [GRCh38]
Chr6:132189177 [GRCh37]
Chr6:6q23.2 |
likely pathogenic |
| NM_006208.3(ENPP1):c.1189G>A (p.Asp397Asn) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005393834] |
Chr6:131868042 [GRCh38]
Chr6:132189182 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2026C>T (p.Gln676Ter) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005360439] |
Chr6:131879960 [GRCh38]
Chr6:132201100 [GRCh37]
Chr6:6q23.2 |
likely pathogenic |
| NM_006208.3(ENPP1):c.1330G>C (p.Val444Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV005327386] |
Chr6:131869414 [GRCh38]
Chr6:132190554 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.80A>C (p.Asn27Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV005327387] |
Chr6:131808115 [GRCh38]
Chr6:132129255 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2479_2482dup (p.Pro828fs) |
duplication |
Arterial calcification, generalized, of infancy, 1 [RCV005037899] |
Chr6:131886595..131886596 [GRCh38]
Chr6:132207735..132207736 [GRCh37]
Chr6:6q23.2 |
likely pathogenic |
| NM_006208.3(ENPP1):c.2335A>C (p.Thr779Pro) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV000367937]|ENPP1-related disorder [RCV004535335]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV000273426]|not provided [RCV000892095]|not specified [RCV000308699] |
Chr6:131884954 [GRCh38]
Chr6:132206094 [GRCh37]
Chr6:6q23.2 |
benign|likely benign |
| NM_006208.3(ENPP1):c.2230+177_2230+178del |
deletion |
not provided [RCV001597805] |
Chr6:131882649..131882650 [GRCh38]
Chr6:132203789..132203790 [GRCh37]
Chr6:6q23.2 |
benign |
| NM_006208.3(ENPP1):c.*1858C>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001156047]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001156046] |
Chr6:131892369 [GRCh38]
Chr6:132213509 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.*1940T>G |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV001156050]|Hypophosphatemic rickets, autosomal recessive, 2 [RCV001156051] |
Chr6:131892451 [GRCh38]
Chr6:132213591 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.665C>A (p.Ala222Glu) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV002273890] |
Chr6:131854973 [GRCh38]
Chr6:132176113 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1106C>T (p.Thr369Ile) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV002273891] |
Chr6:131864880 [GRCh38]
Chr6:132186020 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1273+2T>C |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV002273893] |
Chr6:131868128 [GRCh38]
Chr6:132189268 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.2192del (p.Asn731fs) |
deletion |
Arterial calcification, generalized, of infancy, 1 [RCV002273895]|not provided [RCV005095982] |
Chr6:131882432 [GRCh38]
Chr6:132203572 [GRCh37]
Chr6:6q23.2 |
pathogenic |
| NM_006208.3(ENPP1):c.1348A>T (p.Ile450Phe) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005034381]|Inborn genetic diseases [RCV004617084]|not provided [RCV002720602] |
Chr6:131869432 [GRCh38]
Chr6:132190572 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.430+15G>A |
single nucleotide variant |
not provided [RCV002635995] |
Chr6:131850121 [GRCh38]
Chr6:132171261 [GRCh37]
Chr6:6q23.2 |
likely benign |
| NM_006208.3(ENPP1):c.103C>T (p.His35Tyr) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005036760]|Inborn genetic diseases [RCV003343285] |
Chr6:131808138 [GRCh38]
Chr6:132129278 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.1835T>C (p.Val612Ala) |
single nucleotide variant |
not provided [RCV003562606] |
Chr6:131877103 [GRCh38]
Chr6:132198243 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.52C>G (p.Arg18Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV005325968]|not provided [RCV005065839] |
Chr6:131808087 [GRCh38]
Chr6:132129227 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2429T>C (p.Leu810Ser) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037896] |
Chr6:131885048 [GRCh38]
Chr6:132206188 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
| NM_006208.3(ENPP1):c.2430A>C (p.Leu810Phe) |
single nucleotide variant |
Arterial calcification, generalized, of infancy, 1 [RCV005037897] |
Chr6:131885049 [GRCh38]
Chr6:132206189 [GRCh37]
Chr6:6q23.2 |
uncertain significance |
