Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NC_000022.10:g.(?_39621728)_(41077932_?)dup | 158 | ADSL | Uncertain significance | -1 | RCV001910122; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 39621728 | 41077932 | na | na | -1 | - | | |
NC_000022.10:g.40741466C>T | 158 | ADSL | Uncertain significance | -1 | RCV001908672; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741466 | 40741466 | C | T | 40741466 | - | | |
NC_000022.10:g.40741476C>T | 158 | ADSL | Uncertain significance | -1 | RCV001912018; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741476 | 40741476 | C | T | 40741476 | - | | |
NC_000022.10:g.40741477G>A | 158 | ADSL | Uncertain significance | -1 | RCV001909183; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741477 | 40741477 | G | A | 40741477 | - | | |
NC_000022.10:g.40741485C>T | 158 | ADSL | Uncertain significance | -1 | RCV001901336; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741485 | 40741485 | C | T | 40741485 | - | | |
NC_000022.10:g.40741488A>C | 158 | ADSL | Uncertain significance | -1 | RCV001999475; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741488 | 40741488 | A | C | 40741488 | - | | |
NC_000022.10:g.40741499T>C | 158 | ADSL | Uncertain significance | -1 | RCV001945369; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741499 | 40741499 | T | C | 40741499 | - | | |
NC_000022.10:g.40741502_40741503insA | 158 | ADSL | Benign | -1 | RCV001518384; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741502 | 40741503 | T | TA | 40741502 | - | | |
NC_000022.10:g.40741506G>A | 158 | ADSL | Uncertain significance | -1 | RCV002026897; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741506 | 40741506 | G | A | 40741506 | - | | |
NC_000022.10:g.40741511A>T | 158 | ADSL | Uncertain significance | -1 | RCV001994914; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741511 | 40741511 | A | T | 40741511 | - | | |
NC_000022.10:g.40741517A>C | 158 | ADSL | Uncertain significance | -1 | RCV001891674; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741517 | 40741517 | A | C | 40741517 | - | | |
NC_000022.10:g.40741520C>T | 158 | ADSL | Benign | -1 | RCV001515756; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741520 | 40741520 | C | T | 40741520 | - | | |
NC_000022.10:g.40741534C>T | 158 | ADSL | Uncertain significance | -1 | RCV002018567; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741534 | 40741534 | C | T | 40741534 | - | | |
NC_000022.10:g.40741548T>C | 158 | ADSL | Uncertain significance | -1 | RCV001995005; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741548 | 40741548 | T | C | 40741548 | - | | |
NC_000022.10:g.40741564T>C | 158 | ADSL | Uncertain significance | -1 | RCV001911031; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741564 | 40741564 | T | C | 40741564 | - | | |
NC_000022.10:g.40741567C>T | 158 | ADSL | Uncertain significance | -1 | RCV001914936; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741567 | 40741567 | C | T | 40741567 | - | | |
NC_000022.10:g.40741570G>T | 158 | ADSL | Uncertain significance | -1 | RCV001988502; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741570 | 40741570 | G | T | 40741570 | - | | |
NC_000022.10:g.40741572C>A | 158 | ADSL | Uncertain significance | -1 | RCV002004322; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741572 | 40741572 | C | A | 40741572 | - | | |
NC_000022.10:g.40741591A>G | 158 | ADSL | Uncertain significance | -1 | RCV002027468; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741591 | 40741591 | A | G | 40741591 | - | | |
NC_000022.10:g.40741592A>G | 158 | ADSL | Benign | -1 | RCV001516263; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741592 | 40741592 | A | G | 40741592 | - | | |
NC_000022.10:g.40741592_40741593insAAAAG | 158 | ADSL | Benign | -1 | RCV001523319; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741592 | 40741593 | A | AAAAAG | 40741592 | - | | |
NC_000022.10:g.40741592_40741593insGG | 158 | ADSL | Benign | -1 | RCV001512314; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741592 | 40741593 | A | AGG | 40741592 | - | | |
NC_000022.10:g.40741592_40741593insAAAAAAAGG | 158 | ADSL | Benign | -1 | RCV002215174; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741592 | 40741593 | A | AAAAAAAAGG | 40741592 | - | | |
NC_000022.10:g.40741592_40741593insAG | 158 | ADSL | Benign | -1 | RCV002204990; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741592 | 40741593 | A | AAG | 40741592 | - | | |
NC_000022.10:g.40741593G>A | 158 | ADSL | Benign | -1 | RCV001523322; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741593 | 40741593 | G | A | 40741593 | - | | |
NC_000022.10:g.40741593del | 158 | ADSL | Benign | -1 | RCV002117904; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741593 | 40741593 | AG | A | 40741592 | - | | |
NC_000022.10:g.40741594G>T | 158 | ADSL | Uncertain significance | -1 | RCV001971139; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741594 | 40741594 | G | T | 40741594 | - | | |
NC_000022.10:g.40741594G>A | 158 | ADSL | Uncertain significance | -1 | RCV001886568; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741594 | 40741594 | G | A | 40741594 | - | | |
NC_000022.10:g.40741594G>C | 158 | ADSL | Likely benign | -1 | RCV002114644; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741594 | 40741594 | G | C | 40741594 | - | | |
NC_000022.10:g.40741596G>A | 158 | ADSL | Uncertain significance | -1 | RCV002023447; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741596 | 40741596 | G | A | 40741596 | - | | |
NC_000022.10:g.40741599G>T | 158 | ADSL | Uncertain significance | -1 | RCV001966498; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741599 | 40741599 | G | T | 40741599 | - | | |
NC_000022.10:g.40741601G>A | 158 | ADSL | Uncertain significance | -1 | RCV002049097; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741601 | 40741601 | G | A | 40741601 | - | | |
NC_000022.10:g.40741601G>T | 158 | ADSL | Uncertain significance | -1 | RCV001969399; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741601 | 40741601 | G | T | 40741601 | - | | |
NC_000022.10:g.40741602C>G | 158 | ADSL | Uncertain significance | -1 | RCV002030322; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741602 | 40741602 | C | G | 40741602 | - | | |
NC_000022.10:g.40741608G>A | 158 | ADSL | Uncertain significance | -1 | RCV002004239; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741608 | 40741608 | G | A | 40741608 | - | | |
NC_000022.10:g.40741617_40741618del | 158 | ADSL | Benign | -1 | RCV001523323; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741617 | 40741618 | CTA | C | 40741616 | - | | |
NC_000022.10:g.40741623_40741626del | 158 | ADSL | Uncertain significance | -1 | RCV002047241; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741623 | 40741626 | CTATT | C | 40741622 | - | | |
NC_000022.10:g.40741628A>C | 158 | ADSL | Uncertain significance | -1 | RCV002006207; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741628 | 40741628 | A | C | 40741628 | - | | |
NC_000022.10:g.40741635T>C | 158 | ADSL | Uncertain significance | -1 | RCV001996201; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741635 | 40741635 | T | C | 40741635 | - | | |
NC_000022.10:g.40741637_40741638insT | 158 | ADSL | Uncertain significance | -1 | RCV002013646; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741637 | 40741638 | A | AT | 40741637 | - | | |
NC_000022.10:g.40741638_40741641del | 158 | ADSL | Uncertain significance | -1 | RCV002050710; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741638 | 40741641 | ATTCT | A | 40741637 | - | | |
NC_000022.10:g.40741638T>C | 158 | ADSL | Uncertain significance | -1 | RCV002016755; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741638 | 40741638 | T | C | 40741638 | - | | |
NC_000022.10:g.40741639T>C | 158 | ADSL | Uncertain significance | -1 | RCV001949103; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741639 | 40741639 | T | C | 40741639 | - | | |
NC_000022.10:g.40741640C>T | 158 | ADSL | Benign | -1 | RCV001522299; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741640 | 40741640 | C | T | 40741640 | - | | |
NC_000022.10:g.40741643T>C | 158 | ADSL | Uncertain significance | -1 | RCV001894373; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741643 | 40741643 | T | C | 40741643 | - | | |
NC_000022.10:g.40741645_40741646insT | 158 | ADSL | Uncertain significance | -1 | RCV002042531; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741645 | 40741646 | A | AT | 40741645 | - | | |
NC_000022.10:g.40741647T>C | 158 | ADSL | Uncertain significance | -1 | RCV002019323; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741647 | 40741647 | T | C | 40741647 | - | | |
NC_000022.10:g.40741665C>T | 158 | ADSL | Uncertain significance | -1 | RCV002002658; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741665 | 40741665 | C | T | 40741665 | - | | |
NC_000022.10:g.40741673C>T | 158 | ADSL | Uncertain significance | -1 | RCV001878450; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741673 | 40741673 | C | T | 40741673 | - | | |
NC_000022.10:g.40741680G>A | 158 | ADSL | Uncertain significance | -1 | RCV001864202; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741680 | 40741680 | G | A | 40741680 | - | | |
NC_000022.10:g.40741687T>G | 158 | ADSL | Uncertain significance | -1 | RCV001918146; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741687 | 40741687 | T | G | 40741687 | - | | |
NC_000022.10:g.40741690A>G | 158 | ADSL | Uncertain significance | -1 | RCV002017739; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741690 | 40741690 | A | G | 40741690 | - | | |
NC_000022.10:g.40741698G>A | 158 | ADSL | Uncertain significance | -1 | RCV002014338; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741698 | 40741698 | G | A | 40741698 | - | | |
NC_000022.10:g.40741701C>T | 158 | ADSL | Uncertain significance | -1 | RCV001947449; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741701 | 40741701 | C | T | 40741701 | - | | |
NC_000022.10:g.40741702del | 158 | ADSL | Uncertain significance | -1 | RCV001964450; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741702 | 40741702 | CT | C | 40741701 | - | | |
NC_000022.10:g.40741709A>T | 158 | ADSL | Uncertain significance | -1 | RCV001913254; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741709 | 40741709 | A | T | 40741709 | - | | |
NC_000022.10:g.40741713C>A | 158 | ADSL | Uncertain significance | -1 | RCV001979799; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741713 | 40741713 | C | A | 40741713 | - | | |
NC_000022.10:g.40741720C>T | 158 | ADSL | Uncertain significance | -1 | RCV001975798; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741720 | 40741720 | C | T | 40741720 | - | | |
NC_000022.10:g.40741746T>A | 158 | ADSL | Uncertain significance | -1 | RCV001970795; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741746 | 40741746 | T | A | 40741746 | - | | |
NC_000022.10:g.40741768G>A | 158 | ADSL | Uncertain significance | -1 | RCV002023854; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741768 | 40741768 | G | A | 40741768 | - | | |
NC_000022.10:g.40741774A>G | 158 | ADSL | Uncertain significance | -1 | RCV001894164; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741774 | 40741774 | A | G | 40741774 | - | | |
NC_000022.10:g.40741801_40741802insT | 158 | ADSL | Uncertain significance | -1 | RCV002035137; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741801 | 40741802 | A | AT | 40741801 | - | | |
NC_000022.10:g.40741809T>C | 158 | ADSL | Uncertain significance | -1 | RCV001976238; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741809 | 40741809 | T | C | 40741809 | - | | |
NC_000022.10:g.40741821G>C | 158 | ADSL | Benign | -1 | RCV001512252; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741821 | 40741821 | G | C | 40741821 | - | | |
NC_000022.10:g.40741824del | 158 | ADSL | Uncertain significance | -1 | RCV001870749; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741824 | 40741824 | CA | C | 40741823 | - | | |
NC_000022.10:g.40741834G>C | 158 | ADSL | Uncertain significance | -1 | RCV001875498; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741834 | 40741834 | G | C | 40741834 | - | | |
NC_000022.10:g.40741859C>G | 158 | ADSL | Uncertain significance | -1 | RCV002047653; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741859 | 40741859 | C | G | 40741859 | - | | |
NC_000022.10:g.40741877G>C | 158 | ADSL | Uncertain significance | -1 | RCV002011403; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741877 | 40741877 | G | C | 40741877 | - | | |
NC_000022.10:g.40741889C>G | 158 | ADSL | Uncertain significance | -1 | RCV001931141; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741889 | 40741889 | C | G | 40741889 | - | | |
NC_000022.10:g.40741891C>T | 158 | ADSL | Uncertain significance | -1 | RCV001373493; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741891 | 40741891 | C | T | 40741891 | - | | |
NC_000022.10:g.40741893C>T | 158 | ADSL | Benign | -1 | RCV002124697; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741893 | 40741893 | C | T | 40741893 | - | | |
NC_000022.10:g.40741909C>T | 158 | ADSL | Uncertain significance | -1 | RCV002022998; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741909 | 40741909 | C | T | 40741909 | - | | |
NC_000022.10:g.40741923C>T | 158 | ADSL | Uncertain significance | -1 | RCV002019368; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741923 | 40741923 | C | T | 40741923 | - | | |
NC_000022.10:g.40741931G>A | 158 | ADSL | Uncertain significance | -1 | RCV002001120; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741931 | 40741931 | G | A | 40741931 | - | | |
NC_000022.10:g.40741935A>G | 158 | ADSL | Uncertain significance | -1 | RCV001867461; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741935 | 40741935 | A | G | 40741935 | - | | |
NC_000022.10:g.40741937T>C | 158 | ADSL | Uncertain significance | -1 | RCV001913349; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741937 | 40741937 | T | C | 40741937 | - | | |
NC_000022.10:g.40741938G>A | 158 | ADSL | Uncertain significance | -1 | RCV001373666; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741938 | 40741938 | G | A | 40741938 | - | | |
NC_000022.10:g.40741956G>T | 158 | ADSL | Uncertain significance | -1 | RCV002019479; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741956 | 40741956 | G | T | 40741956 | - | | |
NC_000022.10:g.40741962C>T | 158 | ADSL | Uncertain significance | -1 | RCV002049971; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741962 | 40741962 | C | T | 40741962 | - | | |
NC_000022.10:g.40741972C>G | 158 | ADSL | Uncertain significance | -1 | RCV001874608; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741972 | 40741972 | C | G | 40741972 | - | | |
NC_000022.10:g.40741973_40741974del | 158 | ADSL | Uncertain significance | -1 | RCV001994451; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741973 | 40741974 | CTT | C | 40741972 | - | | |
NC_000022.10:g.40741975C>T | 158 | ADSL | Uncertain significance | -1 | RCV001958142; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741975 | 40741975 | C | T | 40741975 | - | | |
NC_000022.10:g.40741976A>G | 158 | ADSL | Uncertain significance | -1 | RCV001925013; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741976 | 40741976 | A | G | 40741976 | - | | |
NC_000022.10:g.40741992G>C | 158 | ADSL | Benign | -1 | RCV002087883; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741992 | 40741992 | G | C | 40741992 | - | | |
NC_000022.10:g.40741997C>T | 158 | ADSL | Uncertain significance | -1 | RCV002050292; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741997 | 40741997 | C | T | 40741997 | - | | |
NC_000022.10:g.40741998G>C | 158 | ADSL | Uncertain significance | -1 | RCV001866379; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40741998 | 40741998 | G | C | 40741998 | - | | |
NC_000022.10:g.40742001G>A | 158 | ADSL | Uncertain significance | -1 | RCV002014349; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742001 | 40742001 | G | A | 40742001 | - | | |
NC_000022.10:g.40742003G>C | 158 | ADSL | Uncertain significance | -1 | RCV002017383; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742003 | 40742003 | G | C | 40742003 | - | | |
NC_000022.10:g.40742008G>A | 158 | ADSL | Uncertain significance | -1 | RCV001957502; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742008 | 40742008 | G | A | 40742008 | - | | |
NC_000022.10:g.40742020G>A | 158 | ADSL | Uncertain significance | -1 | RCV001920279; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742020 | 40742020 | G | A | 40742020 | - | | |
NC_000022.10:g.40742023G>A | 158 | ADSL | Uncertain significance | -1 | RCV002035990; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742023 | 40742023 | G | A | 40742023 | - | | |
NC_000022.10:g.40742026C>A | 158 | ADSL | Uncertain significance | -1 | RCV002051028; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742026 | 40742026 | C | A | 40742026 | - | | |
NC_000022.10:g.40742036_40742037del | 158 | ADSL | Uncertain significance | -1 | RCV001983791; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742036 | 40742037 | TAA | T | 40742035 | - | | |
NC_000022.10:g.40742041_40742042insA | 158 | ADSL | Uncertain significance | -1 | RCV002001696; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742041 | 40742042 | T | TA | 40742041 | - | | |
NC_000022.10:g.40742053T>C | 158 | ADSL | Uncertain significance | -1 | RCV001899822; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742053 | 40742053 | T | C | 40742053 | - | | |
NC_000022.10:g.40742062C>A | 158 | ADSL | Uncertain significance | -1 | RCV001873980; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742062 | 40742062 | C | A | 40742062 | - | | |
NC_000022.10:g.40742062C>T | 158 | ADSL | Benign | -1 | RCV002194677; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742062 | 40742062 | C | T | 40742062 | - | | |
NC_000022.10:g.40742064T>C | 158 | ADSL | Uncertain significance | rs998527385 | RCV001352625; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742064 | 40742064 | T | C | 40742064 | - | | |
NC_000022.10:g.40742067C>T | 158 | ADSL | Uncertain significance | -1 | RCV001943065; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742067 | 40742067 | C | T | 40742067 | - | | |
NC_000022.10:g.40742069_40742071del | 158 | ADSL | Uncertain significance | -1 | RCV002013105; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742069 | 40742071 | AAGT | A | 40742068 | - | | |
NC_000022.10:g.40742093C>T | 158 | ADSL | Uncertain significance | -1 | RCV001954074; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742093 | 40742093 | C | T | 40742093 | - | | |
NC_000022.10:g.40742108C>G | 158 | ADSL | Uncertain significance | -1 | RCV001905632; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742108 | 40742108 | C | G | 40742108 | - | | |
NC_000022.10:g.40742120C>A | 158 | ADSL | Uncertain significance | -1 | RCV001971806; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742120 | 40742120 | C | A | 40742120 | - | | |
NC_000022.10:g.40742145T>A | 158 | ADSL | Uncertain significance | -1 | RCV001954637; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742145 | 40742145 | T | A | 40742145 | - | | |
NC_000022.10:g.40742147T>C | 158 | ADSL | Uncertain significance | -1 | RCV001984702; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742147 | 40742147 | T | C | 40742147 | - | | |
NC_000022.10:g.40742162C>T | 158 | ADSL | Uncertain significance | -1 | RCV001979427; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742162 | 40742162 | C | T | 40742162 | - | | |
NC_000022.10:g.40742162del | 158 | ADSL | Uncertain significance | -1 | RCV001985180; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742162 | 40742162 | AC | A | 40742161 | - | | |
NC_000022.10:g.40742169G>T | 158 | ADSL | Uncertain significance | -1 | RCV002008120; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742169 | 40742169 | G | T | 40742169 | - | | |
NC_000022.10:g.40742171C>T | 158 | ADSL | Likely benign | -1 | RCV002182427; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742171 | 40742171 | C | T | 40742171 | - | | |
NC_000022.10:g.40742192G>C | 158 | ADSL | Uncertain significance | -1 | RCV001894131; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742192 | 40742192 | G | C | 40742192 | - | | |
NC_000022.10:g.40742193T>G | 158 | ADSL | Uncertain significance | -1 | RCV001908478; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742193 | 40742193 | T | G | 40742193 | - | | |
NC_000022.10:g.40742232C>G | 158 | ADSL | Uncertain significance | -1 | RCV001971678; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742232 | 40742232 | C | G | 40742232 | - | | |
NC_000022.10:g.40742234C>G | 158 | ADSL | Uncertain significance | -1 | RCV001983328; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742234 | 40742234 | C | G | 40742234 | - | | |
NC_000022.10:g.40742244T>C | 158 | ADSL | Uncertain significance | -1 | RCV001959424; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742244 | 40742244 | T | C | 40742244 | - | | |
NC_000022.10:g.40742251A>G | 158 | ADSL | Uncertain significance | -1 | RCV001910393; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742251 | 40742251 | A | G | 40742251 | - | | |
NC_000022.10:g.40742257G>A | 158 | ADSL | Likely benign | -1 | RCV002074669; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742257 | 40742257 | G | A | 40742257 | - | | |
NC_000022.10:g.40742273G>A | 158 | ADSL | Uncertain significance | -1 | RCV001955209; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742273 | 40742273 | G | A | 40742273 | - | | |
NC_000022.10:g.40742280G>A | 158 | ADSL | Uncertain significance | -1 | RCV001915551; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742280 | 40742280 | G | A | 40742280 | - | | |
NC_000022.10:g.40742284T>A | 158 | ADSL | Uncertain significance | -1 | RCV002027383; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742284 | 40742284 | T | A | 40742284 | - | | |
NC_000022.10:g.40742293A>G | 158 | ADSL | Uncertain significance | -1 | RCV001910234; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742293 | 40742293 | A | G | 40742293 | - | | |
NC_000022.10:g.40742309G>A | 158 | ADSL | Uncertain significance | -1 | RCV001927523; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742309 | 40742309 | G | A | 40742309 | - | | |
NC_000022.10:g.40742317A>C | 158 | ADSL | Uncertain significance | -1 | RCV001990611; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742317 | 40742317 | A | C | 40742317 | - | | |
NC_000022.10:g.40742327C>A | 158 | ADSL | Uncertain significance | -1 | RCV001918883; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742327 | 40742327 | C | A | 40742327 | - | | |
NC_000022.10:g.40742328G>A | 158 | ADSL | Uncertain significance | -1 | RCV001903330; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742328 | 40742328 | G | A | 40742328 | - | | |
NC_000022.10:g.40742333A>C | 158 | ADSL | Uncertain significance | -1 | RCV001928900; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742333 | 40742333 | A | C | 40742333 | - | | |
NC_000022.10:g.40742343G>A | 158 | ADSL | Uncertain significance | -1 | RCV001867577; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742343 | 40742343 | G | A | 40742343 | - | | |
NC_000022.10:g.40742357G>A | 158 | ADSL | Uncertain significance | -1 | RCV002005113; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742357 | 40742357 | G | A | 40742357 | - | | |
NC_000022.10:g.40742361C>A | 158 | ADSL | Uncertain significance | -1 | RCV002037107; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742361 | 40742361 | C | A | 40742361 | - | | |
NC_000022.10:g.40742362T>C | 158 | ADSL | Uncertain significance | -1 | RCV001894169; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742362 | 40742362 | T | C | 40742362 | - | | |
NC_000022.10:g.40742364G>A | 158 | ADSL | Uncertain significance | -1 | RCV001919554; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742364 | 40742364 | G | A | 40742364 | - | | |
NC_000022.10:g.40742375G>C | 158 | ADSL | Uncertain significance | -1 | RCV001992719; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742375 | 40742375 | G | C | 40742375 | - | | |
NC_000022.10:g.40742375G>T | 158 | ADSL | Uncertain significance | -1 | RCV002005948; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742375 | 40742375 | G | T | 40742375 | - | | |
NC_000022.10:g.40742378C>G | 158 | ADSL | Uncertain significance | -1 | RCV002011504; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742378 | 40742378 | C | G | 40742378 | - | | |
NC_000022.10:g.40742381A>C | 158 | ADSL | Uncertain significance | -1 | RCV001953233; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742381 | 40742381 | A | C | 40742381 | - | | |
NC_000022.10:g.40742381A>T | 158 | ADSL | Uncertain significance | -1 | RCV002019828; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742381 | 40742381 | A | T | 40742381 | - | | |
NC_000022.10:g.40742385A>C | 158 | ADSL | Uncertain significance | -1 | RCV001886299; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742385 | 40742385 | A | C | 40742385 | - | | |
NC_000022.10:g.40742390T>A | 158 | ADSL | Uncertain significance | -1 | RCV001949043; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742390 | 40742390 | T | A | 40742390 | - | | |
NC_000022.10:g.40742404C>A | 158 | ADSL | Uncertain significance | -1 | RCV001923961; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742404 | 40742404 | C | A | 40742404 | - | | |
NC_000022.10:g.40742405G>T | 158 | ADSL | Uncertain significance | -1 | RCV002024310; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742405 | 40742405 | G | T | 40742405 | - | | |
NC_000022.10:g.40742406G>C | 158 | ADSL | Uncertain significance | -1 | RCV001953140; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742406 | 40742406 | G | C | 40742406 | - | | |
NC_000022.10:g.40742406G>A | 158 | ADSL | Uncertain significance | -1 | RCV001943686; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742406 | 40742406 | G | A | 40742406 | - | | |
NC_000022.10:g.40742412C>A | 158 | ADSL | Uncertain significance | -1 | RCV001923948; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742412 | 40742412 | C | A | 40742412 | - | | |
NC_000022.10:g.40742413T>C | 158 | ADSL | Uncertain significance | -1 | RCV001876371; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742413 | 40742413 | T | C | 40742413 | - | | |
NC_000022.10:g.40742416G>C | 158 | ADSL | Uncertain significance | -1 | RCV001955323; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742416 | 40742416 | G | C | 40742416 | - | | |
NC_000022.11:g.40346413C>T | 158 | ADSL | Benign | rs909669 | RCV000829785|RCV001517151; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742417 | 40742417 | C | T | 22:g.40742417C>T | - | | |
NC_000022.10:g.40742421C>T | 158 | ADSL | Uncertain significance | -1 | RCV001920729; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742421 | 40742421 | C | T | 40742421 | - | | |
NC_000022.10:g.40742422G>C | 158 | ADSL | Uncertain significance | -1 | RCV001939722; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742422 | 40742422 | G | C | 40742422 | - | | |
NC_000022.10:g.40742426G>C | 158 | ADSL | Uncertain significance | -1 | RCV001974105; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742426 | 40742426 | G | C | 40742426 | - | | |
NC_000022.10:g.40742428G>A | 158 | ADSL | Uncertain significance | -1 | RCV002020243; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742428 | 40742428 | G | A | 40742428 | - | | |
NC_000022.10:g.40742431C>G | 158 | ADSL | Uncertain significance | -1 | RCV001969717; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742431 | 40742431 | C | G | 40742431 | - | | |
NC_000022.10:g.40742436C>A | 158 | ADSL | Uncertain significance | -1 | RCV002043713; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742436 | 40742436 | C | A | 40742436 | - | | |
NC_000022.10:g.40742436C>G | 158 | ADSL | Uncertain significance | -1 | RCV001900239; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742436 | 40742436 | C | G | 40742436 | - | | |
NC_000022.10:g.40742436C>T | 158 | ADSL | Likely benign | -1 | RCV002105032; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742436 | 40742436 | C | T | 40742436 | - | | |
NC_000022.10:g.40742437G>A | 158 | ADSL | Uncertain significance | -1 | RCV001902221; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742437 | 40742437 | G | A | 40742437 | - | | |
NC_000022.10:g.40742442G>C | 158 | ADSL | Uncertain significance | -1 | RCV002028864; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742442 | 40742442 | G | C | 40742442 | - | | |
NC_000022.10:g.40742447C>G | 158 | ADSL | Uncertain significance | -1 | RCV001922773; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742447 | 40742447 | C | G | 40742447 | - | | |
NC_000022.10:g.40742453G>C | 158 | ADSL | Uncertain significance | -1 | RCV002051327; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742453 | 40742453 | G | C | 40742453 | - | | |
NC_000022.10:g.40742460C>G | 158 | ADSL | Uncertain significance | -1 | RCV001955426; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742460 | 40742460 | C | G | 40742460 | - | | |
NC_000022.10:g.40742460C>A | 158 | ADSL | Uncertain significance | -1 | RCV001938068; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742460 | 40742460 | C | A | 40742460 | - | | |
NC_000022.10:g.40742473_40742474insCCCGC | 158 | ADSL | Benign | -1 | RCV002114507; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742473 | 40742474 | T | TCCCGC | 40742473 | - | | |
NC_000022.10:g.40742478C>A | 158 | ADSL | Uncertain significance | -1 | RCV001932915; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742478 | 40742478 | C | A | 40742478 | - | | |
NC_000022.10:g.40742481_40742482insGCCCCGTCCT | 158 | ADSL | Uncertain significance | -1 | RCV001933546; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742481 | 40742482 | C | CGCCCCGTCCT | 40742481 | - | | |
NC_000022.10:g.40742482G>C | 158 | ADSL | Uncertain significance | -1 | RCV001879033; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742482 | 40742482 | G | C | 40742482 | - | | |
NC_000022.10:g.40742487_40742496del | 158 | ADSL | Uncertain significance | -1 | RCV001897792; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742487 | 40742496 | CGTCCTGCCCT | C | 40742486 | - | | |
NC_000022.10:g.40742487G>A | 158 | ADSL | Uncertain significance | -1 | RCV001963612; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742487 | 40742487 | G | A | 40742487 | - | | |
NC_000022.10:g.40742492G>A | 158 | ADSL | Uncertain significance | -1 | RCV002042069; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742492 | 40742492 | G | A | 40742492 | - | | |
NC_000022.10:g.40742493C>G | 158 | ADSL | Uncertain significance | -1 | RCV001972934; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742493 | 40742493 | C | G | 40742493 | - | | |
NC_000022.10:g.40742493C>T | 158 | ADSL | Uncertain significance | -1 | RCV001863574; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742493 | 40742493 | C | T | 40742493 | - | | |
NC_000022.10:g.40742497G>A | 158 | ADSL | Uncertain significance | -1 | RCV001892467; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742497 | 40742497 | G | A | 40742497 | - | | |
NC_000022.11:g.40346495C>A | 158 | ADSL | Uncertain significance | rs576843830 | RCV001146692; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742499 | 40742499 | C | A | 22:g.40742499C>A | - | | |
NM_000026.4(ADSL):c.-56T>A | 158 | ADSL | Uncertain significance | -1 | RCV001913565; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742507 | 40742507 | T | A | 40742507 | - | | |
NC_000022.10:g.(?_40742514)_(40762546_?)dup | 158 | ADSL | Uncertain significance | -1 | RCV000536272; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742514 | 40762546 | na | na | | - | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NC_000022.11:g.(?_40346510)_(40353137_?)dup | 158 | ADSL | Uncertain significance | -1 | RCV001031566; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742514 | 40749141 | na | na | -1 | - | | |
NC_000022.11:g.(?_40346510)_(40366542_?)del | 158 | ADSL | Pathogenic | -1 | RCV001032158; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742514 | 40762546 | na | na | -1 | - | | |
NM_000026.4(ADSL):c.-49T>C | 158 | ADSL | Likely pathogenic | rs1272053459 | RCV001266879|RCV002221270; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742514 | 40742514 | T | C | 22:g.40742514T>C | OMIM:608222.0007 | | |
NC_000022.10:g.(?_40742514)_(40762526_?)del | 158 | ADSL | Pathogenic | -1 | RCV001380702; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742514 | 40762526 | na | na | -1 | - | | |
NM_000026.4(ADSL):c.-44C>G | 158 | ADSL | Uncertain significance | -1 | RCV001911814; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742519 | 40742519 | C | G | 40742519 | - | | |
NM_000026.4(ADSL):c.-37C>G | 158 | ADSL | Conflicting interpretations of pathogenicity | rs372357778 | RCV000425428|RCV001861602; | N | MedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742526 | 40742526 | C | G | 22:g.40742526C>G | ClinGen:CA10247561 | CN169374 not specified; | |
NM_000026.4(ADSL):c.-35G>T | 158 | ADSL | Uncertain significance | rs750649096 | RCV000277016; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742528 | 40742528 | G | T | NC_000022.10:g.40742528G>T | ClinGen:CA10247562 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.-35G>C | 158 | ADSL | Uncertain significance | -1 | RCV001911041; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742528 | 40742528 | G | C | 40742528 | - | | |
NM_000026.4(ADSL):c.-32C>T | 158 | ADSL | Uncertain significance | -1 | RCV002017170; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742531 | 40742531 | C | T | 40742531 | - | | |
NM_000026.4(ADSL):c.-31C>T | 158 | ADSL | Uncertain significance | -1 | RCV001986150; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742532 | 40742532 | C | T | 40742532 | - | | |
NM_000026.4(ADSL):c.-29G>C | 158 | ADSL | Uncertain significance | rs2044143205 | RCV001146693; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742534 | 40742534 | G | C | 22:g.40742534G>C | - | | |
NM_000026.4(ADSL):c.-27C>A | 158 | ADSL | Uncertain significance | -1 | RCV001911033; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742536 | 40742536 | C | A | 40742536 | - | | |
NM_000026.4(ADSL):c.-23C>T | 158 | ADSL | Benign | -1 | RCV002178175; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742540 | 40742540 | C | T | 40742540 | - | | |
NM_000026.4(ADSL):c.-20G>T | 158 | ADSL | Uncertain significance | -1 | RCV001947971; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742543 | 40742543 | G | T | 40742543 | - | | |
NM_000026.4(ADSL):c.-18C>A | 158 | ADSL | Uncertain significance | -1 | RCV001981766; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742545 | 40742545 | C | A | 40742545 | - | | |
NM_000026.4(ADSL):c.-12C>T | 158 | ADSL | Uncertain significance | rs775388314 | RCV001323269; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742551 | 40742551 | C | T | 40742551 | - | | |
NM_000026.4(ADSL):c.-11G>T | 158 | ADSL | Uncertain significance | -1 | RCV002021896; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742552 | 40742552 | G | T | 40742552 | - | | |
NM_000026.4(ADSL):c.5C>T (p.Ala2Val) | 158 | ADSL | Conflicting interpretations of pathogenicity | rs143083947 | RCV000186704|RCV001363283; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742567 | 40742567 | C | T | NC_000022.10:g.40742567C>T | ClinGen:CA313131,UniProtKB:P30566#VAR_016930 | | |
NM_000026.4(ADSL):c.7G>A (p.Ala3Thr) | 158 | ADSL | Uncertain significance | -1 | RCV001920953; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742569 | 40742569 | G | A | 40742569 | - | | |
NM_000026.4(ADSL):c.8C>G (p.Ala3Gly) | 158 | ADSL | Uncertain significance | rs2044145822 | RCV001060867; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742570 | 40742570 | C | G | 22:g.40742570C>G | - | | |
NM_000026.4(ADSL):c.9T>C (p.Ala3=) | 158 | ADSL | Likely benign | rs758676257 | RCV000605501|RCV001448851; | N | MedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742571 | 40742571 | T | C | 22:g.40742571T>C | ClinGen:CA10247577 | CN169374 not specified; | |
NM_000026.4(ADSL):c.10G>A (p.Gly4Arg) | 158 | ADSL | Uncertain significance | -1 | RCV002045005; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742572 | 40742572 | G | A | 40742572 | - | | |
NM_000026.4(ADSL):c.11G>T (p.Gly4Val) | 158 | ADSL | Uncertain significance | rs766546584 | RCV000728371|RCV001363640; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742573 | 40742573 | G | T | NC_000022.10:g.40742573G>T | - | | |
NM_000026.4(ADSL):c.11G>C (p.Gly4Ala) | 158 | ADSL | Uncertain significance | -1 | RCV002038035; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742573 | 40742573 | G | C | 40742573 | - | | |
NM_000026.4(ADSL):c.15C>T (p.Gly5=) | 158 | ADSL | Uncertain significance | rs751781160 | RCV001046467; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742577 | 40742577 | C | T | 22:g.40742577C>T | - | | |
NM_000026.4(ADSL):c.15C>A (p.Gly5=) | 158 | ADSL | Likely benign | -1 | RCV002075513; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742577 | 40742577 | C | A | 40742577 | - | | |
NM_000026.4(ADSL):c.16G>C (p.Asp6His) | 158 | ADSL | Uncertain significance | rs140064577 | RCV000327088|RCV000551429; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742578 | 40742578 | G | C | 22:g.40742578G>C | ClinGen:CA10247581 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.17A>T (p.Asp6Val) | 158 | ADSL | Uncertain significance | rs1314470860 | RCV001338365; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742579 | 40742579 | A | T | 40742579 | - | | |
NM_000026.4(ADSL):c.19C>G (p.His7Asp) | 158 | ADSL | Uncertain significance | -1 | RCV001898042; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742581 | 40742581 | C | G | 40742581 | - | | |
NM_000026.4(ADSL):c.20A>G (p.His7Arg) | 158 | ADSL | Uncertain significance | rs377248090 | RCV000436772|RCV001202411; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742582 | 40742582 | A | G | NC_000022.10:g.40742582A>G | ClinGen:CA10247585 | | |
NM_000026.4(ADSL):c.27G>T (p.Ser9=) | 158 | ADSL | Benign/Likely benign | rs146873132 | RCV000123549|RCV000868944; | N | MedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742589 | 40742589 | G | T | 22:g.40742589G>T | ClinGen:CA289318 | CN169374 not specified; | |
NM_000026.4(ADSL):c.28C>G (p.Pro10Ala) | 158 | ADSL | Uncertain significance | -1 | RCV002006925; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742590 | 40742590 | C | G | 40742590 | - | | |
NM_000026.4(ADSL):c.31G>C (p.Asp11His) | 158 | ADSL | Uncertain significance | -1 | RCV002022422; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742593 | 40742593 | G | C | 40742593 | - | | |
NM_000026.4(ADSL):c.32A>T (p.Asp11Val) | 158 | ADSL | Uncertain significance | rs368501116 | RCV000439143|RCV001044398; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742594 | 40742594 | A | T | NC_000022.10:g.40742594A>T | ClinGen:CA10247591 | | |
NM_000026.4(ADSL):c.36C>A (p.Ser12Arg) | 158 | ADSL | Uncertain significance | rs773098808 | RCV000697335; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742598 | 40742598 | C | A | NC_000022.10:g.40742598C>A | - | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.40C>T (p.Arg14Cys) | 158 | ADSL | Uncertain significance | rs766465184 | RCV000727459|RCV001228393; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742602 | 40742602 | C | T | NC_000022.10:g.40742602C>T | ClinGen:CA313132 | | |
NM_000026.4(ADSL):c.41G>T (p.Arg14Leu) | 158 | ADSL | Uncertain significance | rs371824098 | RCV000812500; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742603 | 40742603 | G | T | 22:g.40742603G>T | - | | |
NM_000026.4(ADSL):c.46C>T (p.Pro16Ser) | 158 | ADSL | Uncertain significance | -1 | RCV001365148; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742608 | 40742608 | C | T | 40742608 | - | | |
NM_000026.4(ADSL):c.47C>T (p.Pro16Leu) | 158 | ADSL | Uncertain significance | rs541051390 | RCV001317495; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742609 | 40742609 | C | T | 40742609 | - | | |
NM_000026.4(ADSL):c.49C>T (p.Leu17Phe) | 158 | ADSL | Uncertain significance | rs1262658484 | RCV001238846; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742611 | 40742611 | C | T | 22:g.40742611C>T | - | | |
NM_000026.4(ADSL):c.51T>A (p.Leu17=) | 158 | ADSL | Uncertain significance | -1 | RCV001912736; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742613 | 40742613 | T | A | 40742613 | - | | |
NM_000026.4(ADSL):c.71C>T (p.Pro24Leu) | 158 | ADSL | Uncertain significance | rs1257907226 | RCV000634534; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742633 | 40742633 | C | T | NC_000022.10:g.40742633C>T | ClinGen:CA411632693 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.72G>A (p.Pro24=) | 158 | ADSL | Likely benign | rs1279175740 | RCV000526907|RCV001441240; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742634 | 40742634 | G | A | NC_000022.10:g.40742634G>A | ClinGen:CA514611941 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.78G>A (p.Met26Ile) | 158 | ADSL | Uncertain significance | -1 | RCV001918325; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742640 | 40742640 | G | A | 40742640 | - | | |
NM_000026.4(ADSL):c.100T>C (p.Tyr34His) | 158 | ADSL | Uncertain significance | rs1434292876 | RCV001325958; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742662 | 40742662 | T | C | 40742662 | - | | |
NM_000026.4(ADSL):c.114A>G (p.Thr38=) | 158 | ADSL | Likely benign | rs377588571 | RCV000440282|RCV000864978|RCV001505307; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742676 | 40742676 | A | G | 22:g.40742676A>G | ClinGen:CA10247607 | CN169374 not specified; | |
NM_000026.4(ADSL):c.124C>T (p.Leu42=) | 158 | ADSL | Benign | rs2228415 | RCV000116237|RCV000226786; | N | MedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742686 | 40742686 | C | T | 22:g.40742686C>T | ClinGen:CA288666 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.129G>C (p.Trp43Cys) | 158 | ADSL | Uncertain significance | -1 | RCV002034225; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742691 | 40742691 | G | C | 40742691 | - | | |
NM_000026.4(ADSL):c.135G>A (p.Trp45Ter) | 158 | ADSL | Pathogenic | rs774435749 | RCV001220597; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742697 | 40742697 | G | A | 22:g.40742697G>A | - | | |
NM_000026.4(ADSL):c.140C>T (p.Ala47Val) | 158 | ADSL | Uncertain significance | rs759704594 | RCV001225588; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742702 | 40742702 | C | T | 22:g.40742702C>T | - | | |
NM_000026.4(ADSL):c.146C>T (p.Ala49Val) | 158 | ADSL | Uncertain significance | -1 | RCV001917527; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742708 | 40742708 | C | T | 40742708 | - | | |
NM_000026.4(ADSL):c.151C>T (p.Gln51Ter) | 158 | ADSL | Pathogenic | -1 | RCV001956156; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742713 | 40742713 | C | T | 40742713 | - | | |
NM_000026.4(ADSL):c.153G>A (p.Gln51=) | 158 | ADSL | Uncertain significance | rs1214023402 | RCV001223265; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742715 | 40742715 | G | A | 22:g.40742715G>A | - | | |
NM_000026.4(ADSL):c.153+7G>A | 158 | ADSL | Likely benign | rs376477242 | RCV000443684|RCV002060063; | N | MedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742722 | 40742722 | G | A | 22:g.40742722G>A | ClinGen:CA10247618 | CN169374 not specified; | |
NM_000026.4(ADSL):c.153+10C>A | 158 | ADSL | Likely benign | -1 | RCV002135010; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742725 | 40742725 | C | A | 40742725 | - | | |
NM_000026.4(ADSL):c.153+12C>T | 158 | ADSL | Likely benign | -1 | RCV002149725; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742727 | 40742727 | C | T | 40742727 | - | | |
NM_000026.4(ADSL):c.153+17T>C | 158 | ADSL | Likely benign | -1 | RCV002108168; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742732 | 40742732 | T | C | 40742732 | - | | |
NM_000026.4(ADSL):c.153+19A>G | 158 | ADSL | Likely benign | -1 | RCV002111830; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40742734 | 40742734 | A | G | 40742734 | - | | |
NM_000026.4(ADSL):c.154-9A>G | 158 | ADSL | Likely benign | rs762257005 | RCV000879521; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40745827 | 40745827 | A | G | 22:g.40745827A>G | - | | |
NM_000026.4(ADSL):c.154-7del | 158 | ADSL | Uncertain significance | rs1452778583 | RCV000534398; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40745828 | 40745828 | AT | A | NC_000022.10:g.40745829del | ClinGen:CA658658923 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.155C>A (p.Thr52Lys) | 158 | ADSL | Uncertain significance | rs1380095056 | RCV000692090; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40745837 | 40745837 | C | A | 22:g.40745837C>A | - | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.161G>A (p.Gly54Asp) | 158 | ADSL | Uncertain significance | rs765813625 | RCV001061282; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40745843 | 40745843 | G | A | 22:g.40745843G>A | - | | |
NM_000026.4(ADSL):c.173C>G (p.Thr58Arg) | 158 | ADSL | Uncertain significance | -1 | RCV001968996; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40745855 | 40745855 | C | G | 40745855 | - | | |
NM_000026.4(ADSL):c.183A>C (p.Gln61His) | 158 | ADSL | Uncertain significance | rs1601551862 | RCV000798632; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40745865 | 40745865 | A | C | 22:g.40745865A>C | - | | |
NM_000026.4(ADSL):c.187del (p.Gln63fs) | 158 | ADSL | Pathogenic | -1 | RCV001923611; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40745868 | 40745868 | TC | T | 40745867 | - | | |
NM_000026.4(ADSL):c.205C>G (p.Leu69Val) | 158 | ADSL | Uncertain significance | rs200169254 | RCV000804581; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40745887 | 40745887 | C | G | 22:g.40745887C>G | - | | |
NM_000026.4(ADSL):c.216C>T (p.Ile72=) | 158 | ADSL | Benign | rs145786986 | RCV000175509|RCV000229565; | N | MedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40745898 | 40745898 | C | T | 22:g.40745898C>T | ClinGen:CA302794 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.216C>G (p.Ile72Met) | 158 | ADSL | Uncertain significance | -1 | RCV001870821; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40745898 | 40745898 | C | G | 40745898 | - | | |
NM_000026.4(ADSL):c.224A>G (p.Lys75Arg) | 158 | ADSL | Uncertain significance | -1 | RCV001997416; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40745906 | 40745906 | A | G | 40745906 | - | | |
NM_000026.4(ADSL):c.226A>C (p.Met76Leu) | 158 | ADSL | Uncertain significance | rs145306334 | RCV001318656; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40745908 | 40745908 | A | C | 40745908 | - | | |
NM_000026.4(ADSL):c.244A>C (p.Lys82Gln) | 158 | ADSL | Uncertain significance | -1 | RCV002003989; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40745926 | 40745926 | A | C | 40745926 | - | | |
NM_000026.4(ADSL):c.245A>G (p.Lys82Arg) | 158 | ADSL | Uncertain significance | -1 | RCV001892871; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40745927 | 40745927 | A | G | 40745927 | - | | |
NM_000026.4(ADSL):c.247C>T (p.Arg83Cys) | 158 | ADSL | Uncertain significance | rs780425464 | RCV000527728|RCV000723817; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202 | 22 | 40745929 | 40745929 | C | T | NC_000022.10:g.40745929C>T | ClinGen:CA241261 | | |
NM_000026.4(ADSL):c.253C>T (p.Arg85Ter) | 158 | ADSL | Pathogenic/Likely pathogenic | rs1036185928 | RCV000434653|RCV000679862; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40745935 | 40745935 | C | T | 22:g.40745935C>T | ClinGen:CA16608180 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.255A>G (p.Arg85=) | 158 | ADSL | Likely benign | -1 | RCV002142201; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40745937 | 40745937 | A | G | 40745937 | - | | |
NM_000026.4(ADSL):c.257A>G (p.His86Arg) | 158 | ADSL | Uncertain significance | rs2044280567 | RCV001224951; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40745939 | 40745939 | A | G | 22:g.40745939A>G | - | | |
NM_000026.4(ADSL):c.258T>G (p.His86Gln) | 158 | ADSL | Uncertain significance | rs1327764464 | RCV001312757; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40745940 | 40745940 | T | G | 40745940 | - | | |
NM_000026.4(ADSL):c.262G>T (p.Val88Leu) | 158 | ADSL | Uncertain significance | -1 | RCV001367571; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40745944 | 40745944 | G | T | 40745944 | - | | |
NM_000026.4(ADSL):c.263T>C (p.Val88Ala) | 158 | ADSL | Uncertain significance | rs149165656 | RCV000186702|RCV001207291; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40745945 | 40745945 | T | C | NC_000022.10:g.40745945T>C | ClinGen:CA313129 | | |
NM_000026.4(ADSL):c.268G>A (p.Ala90Thr) | 158 | ADSL | Pathogenic | rs1601552154 | RCV000995690; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40745950 | 40745950 | G | A | 22:g.40745950G>A | - | | |
NM_000026.4(ADSL):c.270T>C (p.Ala90=) | 158 | ADSL | Conflicting interpretations of pathogenicity | rs143275316 | RCV000253583|RCV000731094|RCV001088635; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40745952 | 40745952 | T | C | 22:g.40745952T>C | ClinGen:CA10247657 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.271C>T (p.His91Tyr) | 158 | ADSL | Uncertain significance | rs755518176 | RCV000419456|RCV000764386; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40745953 | 40745953 | C | T | NC_000022.10:g.40745953C>T | ClinGen:CA10247658 | | |
NM_000026.4(ADSL):c.271C>G (p.His91Asp) | 158 | ADSL | Uncertain significance | rs755518176 | RCV001244507; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40745953 | 40745953 | C | G | 22:g.40745953C>G | - | | |
NM_000026.4(ADSL):c.273C>T (p.His91=) | 158 | ADSL | Likely benign | rs148303726 | RCV000862323; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40745955 | 40745955 | C | T | 22:g.40745955C>T | - | | |
NM_000026.4(ADSL):c.274G>T (p.Val92Leu) | 158 | ADSL | Uncertain significance | -1 | RCV001976019; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40745956 | 40745956 | G | T | 40745956 | - | | |
NM_000026.4(ADSL):c.274G>A (p.Val92Met) | 158 | ADSL | Uncertain significance | -1 | RCV001884986; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40745956 | 40745956 | G | A | 40745956 | - | | |
NM_000026.4(ADSL):c.298C>G (p.Pro100Ala) | 158 | ADSL | Pathogenic | rs119450942 | RCV000002567; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40745980 | 40745980 | C | G | 22:g.40745980C>G | ClinGen:CA115566,UniProtKB:P30566#VAR_017079,OMIM:608222.0003 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.319C>T (p.His107Tyr) | 158 | ADSL | Uncertain significance | -1 | RCV001373726; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40746001 | 40746001 | C | T | 40746001 | - | | |
NM_000026.4(ADSL):c.340T>C (p.Tyr114His) | 158 | ADSL | Pathogenic | rs374259530 | RCV000186703|RCV000193076|RCV000415212; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|Human Phenotype Ontology:HP:0002344,MedGen:C1854838; Human Phenotype Ontology:HP:0002540,MedGen:C0560046; Human Phenotype Ontology:HP:0003698,MedGen:C0241237; Human Phenotype Ontol | 22 | 40746022 | 40746022 | T | C | NC_000022.10:g.40746022T>C | ClinGen:CA206321,UniProtKB:P30566#VAR_017080 | | |
NM_000026.4(ADSL):c.341A>C (p.Tyr114Ser) | 158 | ADSL | Uncertain significance | -1 | RCV001366584; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40746023 | 40746023 | A | C | 40746023 | - | | |
NM_000026.4(ADSL):c.342T>C (p.Tyr114=) | 158 | ADSL | Likely benign | -1 | RCV001460125; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40746024 | 40746024 | T | C | 40746024 | - | | |
NM_000026.4(ADSL):c.347G>A (p.Gly116Glu) | 158 | ADSL | Uncertain significance | rs768596079 | RCV001058729; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40746029 | 40746029 | G | A | 22:g.40746029G>A | - | | |
NM_000026.4(ADSL):c.357T>C (p.Thr119=) | 158 | ADSL | Uncertain significance | -1 | RCV001871168; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40746039 | 40746039 | T | C | 40746039 | - | | |
NM_000026.4(ADSL):c.357+1G>A | 158 | ADSL | Likely pathogenic | -1 | RCV002017498; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40746040 | 40746040 | G | A | 40746040 | - | | |
NM_000026.4(ADSL):c.357+4G>A | 158 | ADSL | Uncertain significance | rs1230823834 | RCV001339567; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40746043 | 40746043 | G | A | 40746043 | - | | |
NM_000026.4(ADSL):c.357+6C>T | 158 | ADSL | Conflicting interpretations of pathogenicity | rs181628906 | RCV000123547|RCV000289803|RCV000710482; | N | MedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202 | 22 | 40746045 | 40746045 | C | T | 22:g.40746045C>T | ClinGen:CA289316 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.357+7G>A | 158 | ADSL | Conflicting interpretations of pathogenicity | rs199993991 | RCV000123548|RCV000347351|RCV000726640; | N | MedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202 | 22 | 40746046 | 40746046 | G | A | 22:g.40746046G>A | ClinGen:CA289317 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.357+7G>T | 158 | ADSL | Likely benign | -1 | RCV001730224|RCV002073416; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40746046 | 40746046 | G | T | 40746046 | - | | |
NM_000026.4(ADSL):c.357+10T>G | 158 | ADSL | Likely benign | -1 | RCV001922050; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40746049 | 40746049 | T | G | 40746049 | - | | |
NC_000022.10:g.(?_40749057)_(40750351_?)del | 158 | ADSL | Pathogenic | -1 | RCV001941833; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40749057 | 40750351 | na | na | -1 | - | | |
NM_000026.4(ADSL):c.358-5C>T | 158 | ADSL | Likely benign | rs769856337 | RCV000442525|RCV002062641; | N | MedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40749072 | 40749072 | C | T | 22:g.40749072C>T | ClinGen:CA10247687 | CN169374 not specified; | |
NM_000026.4(ADSL):c.358-4G>A | 158 | ADSL | Benign | rs113199851 | RCV000116238|RCV000233479|RCV000710483; | N | MedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202 | 22 | 40749073 | 40749073 | G | A | 22:g.40749073G>A | ClinGen:CA288668 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.358-1G>C | 158 | ADSL | Likely pathogenic | -1 | RCV001785896; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40749076 | 40749076 | G | C | 40749076 | - | | |
NM_000026.4(ADSL):c.363G>A (p.Leu121=) | 158 | ADSL | Conflicting interpretations of pathogenicity | rs138203195 | RCV000123552|RCV000864071; | N | MedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40749082 | 40749082 | G | A | 22:g.40749082G>A | ClinGen:CA289320 | CN169374 not specified; | |
NM_000026.4(ADSL):c.366T>G (p.Ile122Met) | 158 | ADSL | Uncertain significance | rs2044410316 | RCV001228244; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40749085 | 40749085 | T | G | 22:g.40749085T>G | - | | |
NM_000026.4(ADSL):c.370C>A (p.Leu124Ile) | 158 | ADSL | Uncertain significance | rs2044410415 | RCV001228245; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40749089 | 40749089 | C | A | 22:g.40749089C>A | - | | |
NM_000026.4(ADSL):c.377A>G (p.Asn126Ser) | 158 | ADSL | Uncertain significance | rs771267221 | RCV000186707|RCV001035904; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40749096 | 40749096 | A | G | NC_000022.10:g.40749096A>G | ClinGen:CA313136 | | |
NM_000026.4(ADSL):c.402+1G>T | 158 | ADSL | Likely pathogenic | rs761551284 | RCV000810236; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40749122 | 40749122 | G | T | 22:g.40749122G>T | - | | |
NM_000026.4(ADSL):c.402+6G>A | 158 | ADSL | Uncertain significance | -1 | RCV001948178; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40749127 | 40749127 | G | A | 40749127 | - | | |
NM_000026.4(ADSL):c.402+18G>A | 158 | ADSL | Likely benign | -1 | RCV002202860; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40749139 | 40749139 | G | A | 40749139 | - | | |
NM_000026.4(ADSL):c.403-7C>A | 158 | ADSL | Likely benign | rs1601565699 | RCV000926331|RCV001410890; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40750245 | 40750245 | C | A | 22:g.40750245C>A | - | | |
NM_000026.4(ADSL):c.403-7C>T | 158 | ADSL | Likely benign | -1 | RCV002107028; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40750245 | 40750245 | C | T | 40750245 | - | | |
NM_000026.4(ADSL):c.403-4G>A | 158 | ADSL | Conflicting interpretations of pathogenicity | rs373652667 | RCV000227251|RCV000428118|RCV000710484; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN169374|MedGen:CN517202 | 22 | 40750248 | 40750248 | G | A | NC_000022.10:g.40750248G>A | ClinGen:CA10247715 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.403-3T>C | 158 | ADSL | Uncertain significance | rs766286760 | RCV001246622; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40750249 | 40750249 | T | C | 22:g.40750249T>C | - | | |
NM_000026.4(ADSL):c.407C>T (p.Ala136Val) | 158 | ADSL | Uncertain significance | rs1569091418 | RCV000696779; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40750256 | 40750256 | C | T | NC_000022.10:g.40750256C>T | - | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.408C>T (p.Ala136=) | 158 | ADSL | Conflicting interpretations of pathogenicity | rs368166273 | RCV000596859|RCV001476772; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40750257 | 40750257 | C | T | 22:g.40750257C>T | ClinGen:CA10247718 | CN169374 not specified; | |
NM_000026.4(ADSL):c.417C>T (p.Ile139=) | 158 | ADSL | Likely benign | -1 | RCV002071105; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40750266 | 40750266 | C | T | 40750266 | - | | |
NM_000026.4(ADSL):c.422G>C (p.Arg141Pro) | 158 | ADSL | Uncertain significance | rs563054392 | RCV001300027; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40750271 | 40750271 | G | C | 40750271 | - | | |
NM_000026.4(ADSL):c.429C>T (p.Ala143=) | 158 | ADSL | Likely benign | rs754065119 | RCV000931902|RCV001394484; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40750278 | 40750278 | C | T | 22:g.40750278C>T | - | | |
NM_000026.4(ADSL):c.430G>A (p.Asp144Asn) | 158 | ADSL | Uncertain significance | -1 | RCV001919331; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40750279 | 40750279 | G | A | 40750279 | - | | |
NM_000026.4(ADSL):c.435T>C (p.Phe145=) | 158 | ADSL | Likely benign | -1 | RCV001453919; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40750284 | 40750284 | T | C | 40750284 | - | | |
NM_000026.4(ADSL):c.438T>C (p.Ala146=) | 158 | ADSL | Likely benign | -1 | RCV001459078; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40750287 | 40750287 | T | C | 40750287 | - | | |
NM_000026.4(ADSL):c.439A>G (p.Lys147Glu) | 158 | ADSL | Conflicting interpretations of pathogenicity | rs746180694 | RCV001330906; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40750288 | 40750288 | A | G | 40750288 | - | | |
NM_000026.4(ADSL):c.440A>T (p.Lys147Met) | 158 | ADSL | Benign | rs11089991 | RCV000116239|RCV000284062|RCV000441107; | N | MedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202 | 22 | 40750289 | 40750289 | A | T | 22:g.40750289A>T | ClinGen:CA288669,UniProtKB:P30566#VAR_037884 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.446G>A (p.Arg149Gln) | 158 | ADSL | Uncertain significance | rs747546394 | RCV001220104; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40750295 | 40750295 | G | A | 22:g.40750295G>A | - | | |
NM_000026.4(ADSL):c.451A>G (p.Ser151Gly) | 158 | ADSL | Uncertain significance | rs147194356 | RCV000799764; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40750300 | 40750300 | A | G | 22:g.40750300A>G | - | | |
NM_000026.4(ADSL):c.462A>G (p.Thr154=) | 158 | ADSL | Likely benign | -1 | RCV002169316; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40750311 | 40750311 | A | G | 40750311 | - | | |
NM_000026.4(ADSL):c.464T>C (p.Leu155Ser) | 158 | ADSL | Uncertain significance | rs2044467047 | RCV001323574; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40750313 | 40750313 | T | C | 40750313 | - | | |
NM_000026.4(ADSL):c.465A>G (p.Leu155=) | 158 | ADSL | Likely benign | rs139543370 | RCV000930436|RCV001442662; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40750314 | 40750314 | A | G | 22:g.40750314A>G | - | | |
NM_000026.4(ADSL):c.475C>T (p.His159Tyr) | 158 | ADSL | Uncertain significance | rs1310213333 | RCV001207292; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40750324 | 40750324 | C | T | 22:g.40750324C>T | - | | |
NM_000026.4(ADSL):c.482A>G (p.Gln161Arg) | 158 | ADSL | Uncertain significance | rs8192457 | RCV000186708|RCV001308467; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40750331 | 40750331 | A | G | NC_000022.10:g.40750331A>G | ClinGen:CA313138 | | |
NM_000026.4(ADSL):c.482+8A>G | 158 | ADSL | Uncertain significance | rs886042606 | RCV000356986|RCV000459291; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40750339 | 40750339 | A | G | 22:g.40750339A>G | ClinGen:CA10604469 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.482+9T>C | 158 | ADSL | Likely benign | -1 | RCV001504050; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40750340 | 40750340 | T | C | 40750340 | - | | |
NM_000026.4(ADSL):c.482+16A>C | 158 | ADSL | Likely benign | -1 | RCV002118702; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40750347 | 40750347 | A | C | 40750347 | - | | |
NC_000022.11:g.(?_40358844)_(40366542_?)del | 158 | ADSL | Likely pathogenic | -1 | RCV001031709; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40754848 | 40762546 | na | na | -1 | - | | |
NM_000026.4(ADSL):c.502G>A (p.Val168Ile) | 158 | ADSL | Uncertain significance | rs1385675650 | RCV001330907|RCV001509099; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202 | 22 | 40754887 | 40754887 | G | A | 40754887 | - | | |
NM_000026.4(ADSL):c.528T>C (p.Ile176=) | 158 | ADSL | Likely benign | -1 | RCV001463128; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40754913 | 40754913 | T | C | 40754913 | - | | |
NM_000026.4(ADSL):c.541A>T (p.Met181Leu) | 158 | ADSL | Uncertain significance | rs768542145 | RCV000634532; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40754926 | 40754926 | A | T | NC_000022.10:g.40754926A>T | ClinGen:CA411640767 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.541A>G (p.Met181Val) | 158 | ADSL | Uncertain significance | rs768542145 | RCV000700498; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40754926 | 40754926 | A | G | 22:g.40754926A>G | - | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.550C>T (p.Gln184Ter) | 158 | ADSL | Pathogenic | rs1569096551 | RCV000707388; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40754935 | 40754935 | C | T | 22:g.40754935C>T | - | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.563G>A (p.Arg188His) | 158 | ADSL | Conflicting interpretations of pathogenicity | rs761937276 | RCV000432475|RCV000473273; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40754948 | 40754948 | G | A | NC_000022.10:g.40754948G>A | ClinGen:CA10247756 | | |
NM_000026.4(ADSL):c.567C>T (p.Val189=) | 158 | ADSL | Benign/Likely benign | rs765353500 | RCV000439679|RCV000867063; | N | MedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40754952 | 40754952 | C | T | 22:g.40754952C>T | ClinGen:CA10247757 | CN169374 not specified; | |
NM_000026.4(ADSL):c.568C>T (p.Arg190Ter) | 158 | ADSL | Pathogenic | rs750614500 | RCV000186710|RCV000763484; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40754953 | 40754953 | C | T | 22:g.40754953C>T | ClinGen:CA313142 | CN517202 not provided; | |
NM_000026.4(ADSL):c.569G>A (p.Arg190Gln) | 158 | ADSL | Conflicting interpretations of pathogenicity | rs28941471 | RCV000002569|RCV000186674; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202 | 22 | 40754954 | 40754954 | G | A | NC_000022.10:g.40754954G>A | OMIM:608222.0005,ClinGen:CA115568,UniProtKB:P30566#VAR_007974 | | |
NM_000026.4(ADSL):c.578T>C (p.Leu193Pro) | 158 | ADSL | Uncertain significance | rs2044667301 | RCV001150920; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40754963 | 40754963 | T | C | 22:g.40754963T>C | - | | |
NM_000026.4(ADSL):c.579G>C (p.Leu193=) | 158 | ADSL | Conflicting interpretations of pathogenicity | rs751928831 | RCV000349838|RCV001150921; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40754964 | 40754964 | G | C | 22:g.40754964G>C | ClinGen:CA10247759 | CN169374 not specified; | |
NM_000026.4(ADSL):c.580C>T (p.Arg194Cys) | 158 | ADSL | Likely pathogenic | -1 | RCV002010959; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40754965 | 40754965 | C | T | 40754965 | - | | |
NM_000026.4(ADSL):c.581G>A (p.Arg194His) | 158 | ADSL | Conflicting interpretations of pathogenicity | rs755359802 | RCV000634539|RCV001269550; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202 | 22 | 40754966 | 40754966 | G | A | 22:g.40754966G>A | ClinGen:CA10247760 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.586C>T (p.Arg196Trp) | 158 | ADSL | Uncertain significance | rs376533106 | RCV000704389; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40754971 | 40754971 | C | T | 22:g.40754971C>T | - | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.587G>A (p.Arg196Gln) | 158 | ADSL | Uncertain significance | rs753245184 | RCV000442215|RCV001330908; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40754972 | 40754972 | G | A | NC_000022.10:g.40754972G>A | ClinGen:CA10247762 | | |
NM_000026.4(ADSL):c.590G>A (p.Gly197Glu) | 158 | ADSL | Uncertain significance | -1 | RCV001888192; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40754975 | 40754975 | G | A | 40754975 | - | | |
NM_000026.4(ADSL):c.608G>A (p.Gly203Asp) | 158 | ADSL | Uncertain significance | rs2044668344 | RCV001055322; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40754993 | 40754993 | G | A | 22:g.40754993G>A | - | | |
NM_000026.4(ADSL):c.611C>G (p.Thr204Ser) | 158 | ADSL | Uncertain significance | rs745524617 | RCV000804178; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40754996 | 40754996 | C | G | 22:g.40754996C>G | - | | |
NM_000026.4(ADSL):c.611C>T (p.Thr204Ile) | 158 | ADSL | Uncertain significance | -1 | RCV001986185; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40754996 | 40754996 | C | T | 40754996 | - | | |
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser) | 158 | ADSL | Conflicting interpretations of pathogenicity | rs148411623 | RCV000186675|RCV000766357|RCV001082607; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40755001 | 40755001 | G | T | NC_000022.10:g.40755001G>T | ClinGen:CA313090 | | |
NM_000026.4(ADSL):c.617C>G (p.Ala206Gly) | 158 | ADSL | Uncertain significance | rs746848060 | RCV001336062; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40755002 | 40755002 | C | G | 40755002 | - | | |
NM_000026.4(ADSL):c.623T>A (p.Phe208Tyr) | 158 | ADSL | Uncertain significance | rs776615568 | RCV000824613; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40755008 | 40755008 | T | A | 22:g.40755008T>A | - | | |
NM_000026.4(ADSL):c.628C>T (p.Gln210Ter) | 158 | ADSL | Pathogenic | -1 | RCV002037760; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40755013 | 40755013 | C | T | 40755013 | - | | |
NM_000026.4(ADSL):c.632T>A (p.Leu211His) | 158 | ADSL | Uncertain significance | rs2044669605 | RCV001237538; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40755017 | 40755017 | T | A | 22:g.40755017T>A | - | | |
NM_000026.4(ADSL):c.644A>G (p.Asp215Gly) | 158 | ADSL | Uncertain significance | -1 | RCV001368288; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40755029 | 40755029 | A | G | 40755029 | - | | |
NM_000026.4(ADSL):c.649C>G (p.His217Asp) | 158 | ADSL | Benign/Likely benign | rs199761158 | RCV000186672|RCV000230022|RCV001080646; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40755034 | 40755034 | C | G | 22:g.40755034C>G | ClinGen:CA245884 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.649C>T (p.His217Tyr) | 158 | ADSL | Uncertain significance | rs199761158 | RCV000797767; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40755034 | 40755034 | C | T | 22:g.40755034C>T | - | | |
NM_000026.4(ADSL):c.655-42_655-8del | 158 | ADSL | Uncertain significance | -1 | RCV002041321; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40755220 | 40755254 | ACTGGACACATGGATTATTATAAGGATGTGTCTTTT | A | 40755219 | - | | |
NM_000026.4(ADSL):c.655-11T>G | 158 | ADSL | Likely benign | -1 | RCV002185599; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40755253 | 40755253 | T | G | 40755253 | - | | |
NM_000026.4(ADSL):c.655-9C>G | 158 | ADSL | Likely benign | -1 | RCV002203411; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40755255 | 40755255 | C | G | 40755255 | - | | |
NM_000026.4(ADSL):c.655G>A (p.Val219Ile) | 158 | ADSL | Uncertain significance | rs1555907605 | RCV000552936; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40755264 | 40755264 | G | A | 22:g.40755264G>A | ClinGen:CA411641687 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.655G>T (p.Val219Leu) | 158 | ADSL | Uncertain significance | rs1555907605 | RCV001303310; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40755264 | 40755264 | G | T | 40755264 | - | | |
NM_000026.4(ADSL):c.666del (p.Asp223fs) | 158 | ADSL | Pathogenic | -1 | RCV001383241; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40755274 | 40755274 | CT | C | 40755273 | - | | |
NM_000026.4(ADSL):c.674T>C (p.Met225Thr) | 158 | ADSL | Pathogenic | rs119450945 | RCV000002572; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40755283 | 40755283 | T | C | 22:g.40755283T>C | ClinGen:CA115570,OMIM:608222.0008 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.684A>G (p.Glu228=) | 158 | ADSL | Likely benign | -1 | RCV001480293; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40755293 | 40755293 | A | G | 40755293 | - | | |
NM_000026.4(ADSL):c.701+1G>A | 158 | ADSL | Likely pathogenic | rs546878201 | RCV001202658; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40755311 | 40755311 | G | A | 22:g.40755311G>A | - | | |
NM_000026.4(ADSL):c.702-19C>G | 158 | ADSL | Likely benign | -1 | RCV002169732; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40756387 | 40756387 | C | G | 40756387 | - | | |
NM_000026.4(ADSL):c.702-15T>C | 158 | ADSL | Likely benign | -1 | RCV002166841; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40756391 | 40756391 | T | C | 40756391 | - | | |
NM_000026.4(ADSL):c.702-7T>C | 158 | ADSL | Conflicting interpretations of pathogenicity | rs201509960 | RCV000186673|RCV000723924|RCV001081511; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40756399 | 40756399 | T | C | 22:g.40756399T>C | ClinGen:CA233448 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.702-7T>A | 158 | ADSL | Likely benign | -1 | RCV002141471; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40756399 | 40756399 | T | A | 40756399 | - | | |
NM_000026.4(ADSL):c.702-3T>A | 158 | ADSL | Uncertain significance | rs1229114572 | RCV001150922; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40756403 | 40756403 | T | A | 22:g.40756403T>A | - | | |
NM_000026.4(ADSL):c.702-2A>G | 158 | ADSL | Likely pathogenic | -1 | RCV002030152; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40756404 | 40756404 | A | G | 40756404 | - | | |
NM_000026.4(ADSL):c.708C>T (p.Phe236=) | 158 | ADSL | Likely benign | -1 | RCV002190158; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40756412 | 40756412 | C | T | 40756412 | - | | |
NM_000026.4(ADSL):c.712A>G (p.Ile238Val) | 158 | ADSL | Uncertain significance | -1 | RCV001971176; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40756416 | 40756416 | A | G | 40756416 | - | | |
NM_000026.4(ADSL):c.725C>T (p.Thr242Ile) | 158 | ADSL | Pathogenic | rs1601586359 | RCV000990446; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40756429 | 40756429 | C | T | 22:g.40756429C>T | - | | |
NM_000026.4(ADSL):c.733C>T (p.Arg245Ter) | 158 | ADSL | Pathogenic | -1 | RCV001942110; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40756437 | 40756437 | C | T | 40756437 | - | | |
NM_000026.4(ADSL):c.734G>A (p.Arg245Gln) | 158 | ADSL | Uncertain significance | rs374047157 | RCV000767889; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40756438 | 40756438 | G | A | NC_000022.10:g.40756438G>A | - | | |
NM_000026.4(ADSL):c.735A>T (p.Arg245=) | 158 | ADSL | Conflicting interpretations of pathogenicity | rs143977255 | RCV000186609|RCV000723714|RCV001079876; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40756439 | 40756439 | A | T | 22:g.40756439A>T | ClinGen:CA220244 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.736A>G (p.Lys246Glu) | 158 | ADSL | Likely pathogenic | rs119450944 | RCV000002570; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40756440 | 40756440 | A | G | 22:g.40756440A>G | ClinGen:CA115569,UniProtKB:P30566#VAR_007975,OMIM:608222.0006 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.753_761del (p.Ser253_Leu255del) | 158 | ADSL | Uncertain significance | -1 | RCV002009819; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40756455 | 40756463 | AGTACTGTCT | A | 40756454 | - | | |
NM_000026.4(ADSL):c.754C>T (p.Leu252=) | 158 | ADSL | Likely benign | -1 | RCV002081361; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40756458 | 40756458 | C | T | 40756458 | - | | |
NM_000026.4(ADSL):c.763C>T (p.Leu255=) | 158 | ADSL | Conflicting interpretations of pathogenicity | rs771049726 | RCV000341448; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40756467 | 40756467 | C | T | NC_000022.10:g.40756467C>T | ClinGen:CA10247805 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.769A>G (p.Ser257Gly) | 158 | ADSL | Uncertain significance | rs775115015 | RCV000552133; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40756473 | 40756473 | A | G | 22:g.40756473A>G | ClinGen:CA10247806 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.779C>T (p.Ala260Val) | 158 | ADSL | Uncertain significance | rs1601586537 | RCV000797966; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40756483 | 40756483 | C | T | 22:g.40756483C>T | - | | |
NM_000026.4(ADSL):c.785T>C (p.Val262Ala) | 158 | ADSL | Uncertain significance | rs2044740915 | RCV001206286; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40756489 | 40756489 | T | C | 22:g.40756489T>C | - | | |
NM_000026.4(ADSL):c.789C>T (p.His263=) | 158 | ADSL | Likely benign | -1 | RCV002163229; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40756493 | 40756493 | C | T | 40756493 | - | | |
NM_000026.4(ADSL):c.792+5G>C | 158 | ADSL | Uncertain significance | -1 | RCV001916584; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40756501 | 40756501 | G | C | 40756501 | - | | |
NM_000026.4(ADSL):c.792+6T>C | 158 | ADSL | Uncertain significance | rs768892416 | RCV001305891; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40756502 | 40756502 | T | C | 40756502 | - | | |
NM_000026.4(ADSL):c.793-4C>T | 158 | ADSL | Likely benign | -1 | RCV002093682; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757273 | 40757273 | C | T | 40757273 | - | | |
NM_000026.4(ADSL):c.793-3C>T | 158 | ADSL | Uncertain significance | rs2044774129 | RCV001046900; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757274 | 40757274 | C | T | 22:g.40757274C>T | - | | |
NM_000026.4(ADSL):c.801C>T (p.Thr267=) | 158 | ADSL | Likely benign | rs369069575 | RCV000634541; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757285 | 40757285 | C | T | NC_000022.10:g.40757285C>T | ClinGen:CA10247834 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.802G>A (p.Asp268Asn) | 158 | ADSL | Pathogenic | -1 | RCV001382689; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757286 | 40757286 | G | A | 40757286 | - | | |
NM_000026.4(ADSL):c.805A>G (p.Ile269Val) | 158 | ADSL | Uncertain significance | rs759104126 | RCV000498307|RCV000706115; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757289 | 40757289 | A | G | NC_000022.10:g.40757289A>G | ClinGen:CA10247836 | | |
NM_000026.4(ADSL):c.808C>T (p.Arg270Cys) | 158 | ADSL | Uncertain significance | rs181252862 | RCV000402231; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757292 | 40757292 | C | T | NC_000022.10:g.40757292C>T | ClinGen:CA10247839 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.809G>A (p.Arg270His) | 158 | ADSL | Uncertain significance | rs760189192 | RCV001225335; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757293 | 40757293 | G | A | 22:g.40757293G>A | - | | |
NM_000026.4(ADSL):c.818C>T (p.Ala273Val) | 158 | ADSL | Uncertain significance | rs962521087 | RCV001338123; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757302 | 40757302 | C | T | 40757302 | - | | |
NM_000026.4(ADSL):c.820A>G (p.Asn274Asp) | 158 | ADSL | Uncertain significance | -1 | RCV001941136; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757304 | 40757304 | A | G | 40757304 | - | | |
NM_000026.4(ADSL):c.829G>T (p.Glu277Ter) | 158 | ADSL | Pathogenic | -1 | RCV001384334; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757313 | 40757313 | G | T | 40757313 | - | | |
NM_000026.4(ADSL):c.832A>G (p.Met278Val) | 158 | ADSL | Uncertain significance | rs2044778052 | RCV001219514; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757316 | 40757316 | A | G | 22:g.40757316A>G | - | | |
NM_000026.4(ADSL):c.842C>G (p.Pro281Arg) | 158 | ADSL | Uncertain significance | rs371529148 | RCV000818257; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757326 | 40757326 | C | G | 22:g.40757326C>G | - | | |
NM_000026.4(ADSL):c.842C>T (p.Pro281Leu) | 158 | ADSL | Uncertain significance | rs371529148 | RCV001062284; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757326 | 40757326 | C | T | 22:g.40757326C>T | - | | |
NM_000026.4(ADSL):c.843C>T (p.Pro281=) | 158 | ADSL | Likely benign | rs1555908183 | RCV000532703; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757327 | 40757327 | C | T | NC_000022.10:g.40757327C>T | ClinGen:CA514615261 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.845T>C (p.Phe282Ser) | 158 | ADSL | Uncertain significance | -1 | RCV001891766; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757329 | 40757329 | T | C | 40757329 | - | | |
NM_000026.4(ADSL):c.853C>G (p.Gln285Glu) | 158 | ADSL | Uncertain significance | rs796052246 | RCV001062077; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757337 | 40757337 | C | G | 22:g.40757337C>G | - | | |
NM_000026.4(ADSL):c.854A>G (p.Gln285Arg) | 158 | ADSL | Uncertain significance | rs2044779637 | RCV001340795; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757338 | 40757338 | A | G | 40757338 | - | | |
NM_000026.4(ADSL):c.856C>G (p.Gln286Glu) | 158 | ADSL | Uncertain significance | rs376912453 | RCV000521719|RCV001853643; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757340 | 40757340 | C | G | NC_000022.10:g.40757340C>G | ClinGen:CA10247845 | | |
NM_000026.4(ADSL):c.859A>G (p.Ile287Val) | 158 | ADSL | Uncertain significance | -1 | RCV001934126; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757343 | 40757343 | A | G | 40757343 | - | | |
NM_000026.4(ADSL):c.862+10G>A | 158 | ADSL | Likely benign | rs747275092 | RCV000981625; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757356 | 40757356 | G | A | 22:g.40757356G>A | - | | |
NM_000026.4(ADSL):c.862+13T>C | 158 | ADSL | Likely benign | -1 | RCV002118959; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757359 | 40757359 | T | C | 40757359 | - | | |
NM_000026.4(ADSL):c.863-20T>G | 158 | ADSL | Likely benign | rs760407114 | RCV000607072|RCV002066609; | N | MedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757472 | 40757472 | T | G | 22:g.40757472T>G | ClinGen:CA10247857 | CN169374 not specified; | |
NM_000026.4(ADSL):c.863-18C>T | 158 | ADSL | Likely benign | -1 | RCV002214981; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757474 | 40757474 | C | T | 40757474 | - | | |
NM_000026.4(ADSL):c.863-11T>C | 158 | ADSL | Likely benign | rs375532126 | RCV000828825|RCV002062226; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757481 | 40757481 | T | C | 22:g.40757481T>C | - | | |
NM_000026.4(ADSL):c.863G>C (p.Gly288Ala) | 158 | ADSL | Uncertain significance | -1 | RCV001918127; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757492 | 40757492 | G | C | 40757492 | - | | |
NM_000026.4(ADSL):c.869G>A (p.Ser290Asn) | 158 | ADSL | Uncertain significance | rs2044788172 | RCV001220741; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757498 | 40757498 | G | A | 22:g.40757498G>A | - | | |
NM_000026.4(ADSL):c.870T>C (p.Ser290=) | 158 | ADSL | Likely benign | rs146890981 | RCV000634542; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757499 | 40757499 | T | C | 22:g.40757499T>C | ClinGen:CA10247861 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.872C>T (p.Ala291Val) | 158 | ADSL | Uncertain significance | rs2044788378 | RCV001150923; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757501 | 40757501 | C | T | 22:g.40757501C>T | - | | |
NM_000026.4(ADSL):c.873G>A (p.Ala291=) | 158 | ADSL | Likely benign | rs765122847 | RCV000928991|RCV001422082; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757502 | 40757502 | G | A | 22:g.40757502G>A | - | | |
NM_000026.4(ADSL):c.879A>G (p.Pro293=) | 158 | ADSL | Likely benign | -1 | RCV001394381; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757508 | 40757508 | A | G | 40757508 | - | | |
NM_000026.4(ADSL):c.880T>C (p.Tyr294His) | 158 | ADSL | Benign | rs8192461 | RCV000540883|RCV001721189; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202 | 22 | 40757509 | 40757509 | T | C | NC_000022.10:g.40757509T>C | ClinGen:CA313101 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.886C>T (p.Arg296Trp) | 158 | ADSL | Uncertain significance | rs536254357 | RCV000521643|RCV001350739|RCV001814999; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN169374 | 22 | 40757515 | 40757515 | C | T | NC_000022.10:g.40757515C>T | ClinGen:CA10247865 | | |
NM_000026.4(ADSL):c.887G>A (p.Arg296Gln) | 158 | ADSL | Uncertain significance | rs755059672 | RCV000553354|RCV000728589; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202 | 22 | 40757516 | 40757516 | G | A | NC_000022.10:g.40757516G>A | ClinGen:CA10247866 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.891T>A (p.Asn297Lys) | 158 | ADSL | Uncertain significance | -1 | RCV001914563; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757520 | 40757520 | T | A | 40757520 | - | | |
NM_000026.4(ADSL):c.894C>T (p.Pro298=) | 158 | ADSL | Likely benign | -1 | RCV001493234; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757523 | 40757523 | C | T | 40757523 | - | | |
NM_000026.4(ADSL):c.895A>G (p.Met299Val) | 158 | ADSL | Conflicting interpretations of pathogenicity | rs34396910 | RCV000710485|RCV001087090; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757524 | 40757524 | A | G | NC_000022.10:g.40757524A>G | ClinGen:CA247928 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.896T>C (p.Met299Thr) | 158 | ADSL | Uncertain significance | rs1364564756 | RCV000808407; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757525 | 40757525 | T | C | 22:g.40757525T>C | - | | |
NM_000026.4(ADSL):c.898C>A (p.Arg300Ser) | 158 | ADSL | Uncertain significance | rs369617680 | RCV000498255|RCV001857014; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757527 | 40757527 | C | A | NC_000022.10:g.40757527C>A | ClinGen:CA324458491 | | |
NM_000026.4(ADSL):c.898C>T (p.Arg300Cys) | 158 | ADSL | Uncertain significance | rs369617680 | RCV000634537; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757527 | 40757527 | C | T | 22:g.40757527C>T | ClinGen:CA411643943 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.899G>A (p.Arg300His) | 158 | ADSL | Uncertain significance | rs864309550 | RCV000202823|RCV001220450; | N | MedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757528 | 40757528 | G | A | 22:g.40757528G>A | ClinGen:CA249024 | CN169374 not specified; | |
NM_000026.4(ADSL):c.907C>T (p.Arg303Cys) | 158 | ADSL | Pathogenic | rs373458753 | RCV000293106|RCV000727198; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202 | 22 | 40757536 | 40757536 | C | T | 22:g.40757536C>T | ClinGen:CA10247868,UniProtKB:P30566#VAR_007976 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.913T>G (p.Cys305Gly) | 158 | ADSL | Uncertain significance | -1 | RCV001910276; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757542 | 40757542 | T | G | 40757542 | - | | |
NM_000026.4(ADSL):c.916A>G (p.Ser306Gly) | 158 | ADSL | Uncertain significance | rs1006262492 | RCV000473217; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757545 | 40757545 | A | G | NC_000022.10:g.40757545A>G | ClinGen:CA16616389 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.919C>T (p.Leu307Phe) | 158 | ADSL | Uncertain significance | rs2044790556 | RCV001208135; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757548 | 40757548 | C | T | 22:g.40757548C>T | - | | |
NM_000026.4(ADSL):c.925C>T (p.Arg309Cys) | 158 | ADSL | Uncertain significance | rs376357524 | RCV000186683|RCV000764387; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757554 | 40757554 | C | T | NC_000022.10:g.40757554C>T | ClinGen:CA313103 | | |
NM_000026.4(ADSL):c.926G>A (p.Arg309His) | 158 | ADSL | Uncertain significance | rs749817666 | RCV000465601|RCV000443295; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202 | 22 | 40757555 | 40757555 | G | A | NC_000022.10:g.40757555G>A | ClinGen:CA10247869 | | |
NM_000026.4(ADSL):c.946A>G (p.Met316Val) | 158 | ADSL | Uncertain significance | rs2044791557 | RCV001262431; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757575 | 40757575 | A | G | 22:g.40757575A>G | - | | |
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu) | 158 | ADSL | Conflicting interpretations of pathogenicity | rs202064195 | RCV000278336|RCV000186684; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202 | 22 | 40757582 | 40757582 | C | T | NC_000022.10:g.40757582C>T | ClinGen:CA313105,UniProtKB:P30566#VAR_017084 | | |
NM_000026.4(ADSL):c.955del (p.Leu319fs) | 158 | ADSL | Pathogenic | -1 | RCV001387368; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757584 | 40757584 | GC | G | 40757583 | - | | |
NM_000026.4(ADSL):c.962C>T (p.Thr321Ile) | 158 | ADSL | Uncertain significance | rs1243449413 | RCV001043302; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757591 | 40757591 | C | T | 22:g.40757591C>T | - | | |
NM_000026.4(ADSL):c.974A>G (p.Gln325Arg) | 158 | ADSL | Uncertain significance | -1 | RCV001911829; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757603 | 40757603 | A | G | 40757603 | - | | |
NM_000026.4(ADSL):c.977G>A (p.Trp326Ter) | 158 | ADSL | Pathogenic | rs2044792794 | RCV001050339; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757606 | 40757606 | G | A | 22:g.40757606G>A | - | | |
NM_000026.4(ADSL):c.978G>T (p.Trp326Cys) | 158 | ADSL | Uncertain significance | rs1224557562 | RCV001304564; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757607 | 40757607 | G | T | 40757607 | - | | |
NM_000026.4(ADSL):c.985C>T (p.Arg329Cys) | 158 | ADSL | Uncertain significance | rs370221257 | RCV001312484; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757614 | 40757614 | C | T | 40757614 | - | | |
NM_000026.4(ADSL):c.986G>A (p.Arg329His) | 158 | ADSL | Uncertain significance | rs768203123 | RCV000726396|RCV001042231; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757615 | 40757615 | G | A | NC_000022.10:g.40757615G>A | ClinGen:CA10247872 | | |
NM_000026.4(ADSL):c.994G>C (p.Asp332His) | 158 | ADSL | Likely pathogenic | rs776496275 | RCV000990447; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757623 | 40757623 | G | C | 22:g.40757623G>C | ClinVar:208488 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.999T>C (p.Asp333=) | 158 | ADSL | Likely benign | -1 | RCV001496871; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757628 | 40757628 | T | C | 40757628 | - | | |
NM_000026.4(ADSL):c.1008C>G (p.Asn336Lys) | 158 | ADSL | Uncertain significance | -1 | RCV001941106; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757637 | 40757637 | C | G | 40757637 | - | | |
NM_000026.4(ADSL):c.1009C>T (p.Arg337Ter) | 158 | ADSL | Pathogenic | rs761493155 | RCV000186680|RCV001209833; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757638 | 40757638 | C | T | NC_000022.10:g.40757638C>T | ClinGen:CA313099 | | |
NM_000026.4(ADSL):c.1010+18A>G | 158 | ADSL | Benign | rs201019280 | RCV000123545|RCV001699040|RCV002055395; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40757657 | 40757657 | A | G | 22:g.40757657A>G | ClinGen:CA289315 | CN169374 not specified; | |
NM_000026.4(ADSL):c.1011-18T>C | 158 | ADSL | Likely benign | -1 | RCV002207835; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40758967 | 40758967 | T | C | 40758967 | - | | |
NM_000026.4(ADSL):c.1011-13A>G | 158 | ADSL | Likely benign | -1 | RCV002106145; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40758972 | 40758972 | A | G | 40758972 | - | | |
NM_000026.4(ADSL):c.1011-9G>C | 158 | ADSL | Conflicting interpretations of pathogenicity | rs780794164 | RCV001150924; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40758976 | 40758976 | G | C | 22:g.40758976G>C | - | | |
NM_000026.4(ADSL):c.1011-5del | 158 | ADSL | Benign | -1 | RCV001511240; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40758977 | 40758977 | GT | G | 40758976 | - | | |
NM_000026.4(ADSL):c.1011-3T>C | 158 | ADSL | Uncertain significance | rs1376448837 | RCV000822000; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40758982 | 40758982 | T | C | 22:g.40758982T>C | - | | |
NM_000026.4(ADSL):c.1016T>A (p.Ile339Asn) | 158 | ADSL | Uncertain significance | rs772974251 | RCV000484518|RCV001302302; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40758990 | 40758990 | T | A | NC_000022.10:g.40758990T>A | ClinGen:CA10247891 | | |
NM_000026.4(ADSL):c.1026del (p.Glu343fs) | 158 | ADSL | Pathogenic | -1 | RCV001382329; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40758999 | 40758999 | GC | G | 40758998 | - | | |
NM_000026.4(ADSL):c.1027G>A (p.Glu343Lys) | 158 | ADSL | Uncertain significance | rs774159147 | RCV000810822; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40759001 | 40759001 | G | A | 22:g.40759001G>A | - | | |
NM_000026.4(ADSL):c.1041C>T (p.Thr347=) | 158 | ADSL | Likely benign | -1 | RCV002095878; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40759015 | 40759015 | C | T | 40759015 | - | | |
NM_000026.4(ADSL):c.1042G>A (p.Ala348Thr) | 158 | ADSL | Uncertain significance | rs752735865 | RCV001201984; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40759016 | 40759016 | G | A | 22:g.40759016G>A | - | | |
NM_000026.4(ADSL):c.1051A>G (p.Ile351Val) | 158 | ADSL | Uncertain significance | -1 | RCV001362139; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40759025 | 40759025 | A | G | 40759025 | - | | |
NM_000026.4(ADSL):c.1053A>G (p.Ile351Met) | 158 | ADSL | Uncertain significance | rs151095874 | RCV001294247; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40759027 | 40759027 | A | G | 40759027 | - | | |
NM_000026.4(ADSL):c.1060A>G (p.Thr354Ala) | 158 | ADSL | Uncertain significance | rs75953451 | RCV000432959|RCV000634536; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40759034 | 40759034 | A | G | NC_000022.10:g.40759034A>G | ClinGen:CA239081 | | |
NM_000026.4(ADSL):c.1061C>T (p.Thr354Met) | 158 | ADSL | Uncertain significance | rs752238667 | RCV000186686|RCV001857600; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40759035 | 40759035 | C | T | NC_000022.10:g.40759035C>T | ClinGen:CA313106 | | |
NM_000026.4(ADSL):c.1071C>T (p.Asn357=) | 158 | ADSL | Likely benign | -1 | RCV002218541; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40759045 | 40759045 | C | T | 40759045 | - | | |
NM_000026.4(ADSL):c.1089C>T (p.Val363=) | 158 | ADSL | Likely benign | rs368373129 | RCV001427748|RCV001703619; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202 | 22 | 40759063 | 40759063 | C | T | 22:g.40759063C>T | ClinGen:CA10247904 | CN169374 not specified; | |
NM_000026.4(ADSL):c.1090G>A (p.Val364Met) | 158 | ADSL | Likely pathogenic | -1 | RCV001971171; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40759064 | 40759064 | G | A | 40759064 | - | | |
NM_000026.4(ADSL):c.1092G>A (p.Val364=) | 158 | ADSL | Likely benign | -1 | RCV002133705; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40759066 | 40759066 | G | A | 40759066 | - | | |
NM_000026.4(ADSL):c.1093T>C (p.Tyr365His) | 158 | ADSL | Uncertain significance | -1 | RCV001979832; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40759067 | 40759067 | T | C | 40759067 | - | | |
NM_000026.4(ADSL):c.1101+6_1101+8del | 158 | ADSL | Uncertain significance | -1 | RCV001365221; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40759078 | 40759080 | TAAG | T | 40759077 | - | | |
NM_000026.4(ADSL):c.1101+10C>T | 158 | ADSL | Likely benign | -1 | RCV002196366; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40759085 | 40759085 | C | T | 40759085 | - | | |
NC_000022.11:g.(?_40364256)_(40366542_?)dup | 158 | ADSL | Uncertain significance | -1 | RCV001032082; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760260 | 40762546 | na | na | -1 | - | | |
NC_000022.10:g.(?_40760260)_(40762546_?)del | 158 | ADSL | Likely pathogenic | -1 | RCV001377197; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760260 | 40762546 | na | na | -1 | - | | |
NM_000026.4(ADSL):c.1102-18C>G | 158 | ADSL | Conflicting interpretations of pathogenicity | -1 | RCV001613498|RCV001866258; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760262 | 40760262 | C | G | 40760262 | - | | |
NM_000026.4(ADSL):c.1102-17C>T | 158 | ADSL | Likely benign | -1 | RCV002178925; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760263 | 40760263 | C | T | 40760263 | - | | |
NM_000026.4(ADSL):c.1102-16G>A | 158 | ADSL | Likely benign | rs200428249 | RCV000614052|RCV002063132; | N | MedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760264 | 40760264 | G | A | 22:g.40760264G>A | ClinGen:CA10247918 | CN169374 not specified; | |
NM_000026.4(ADSL):c.1102-15dup | 158 | ADSL | Likely benign | -1 | RCV002134102; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760264 | 40760265 | G | GT | 40760264 | - | | |
NM_000026.4(ADSL):c.1102-16G>T | 158 | ADSL | Likely benign | -1 | RCV002094972; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760264 | 40760264 | G | T | 40760264 | - | | |
NM_000026.4(ADSL):c.1102-7C>T | 158 | ADSL | Likely benign | -1 | RCV001396334; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760273 | 40760273 | C | T | 40760273 | - | | |
NM_000026.4(ADSL):c.1102-6C>G | 158 | ADSL | Uncertain significance | rs758666194 | RCV001064875; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760274 | 40760274 | C | G | 22:g.40760274C>G | - | | |
NM_000026.4(ADSL):c.1102-4A>G | 158 | ADSL | Uncertain significance | rs371780382 | RCV001326174; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760276 | 40760276 | A | G | 40760276 | - | | |
NM_000026.4(ADSL):c.1105A>C (p.Ile369Leu) | 158 | ADSL | Conflicting interpretations of pathogenicity | -1 | RCV001786850|RCV002034624; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760283 | 40760283 | A | C | 40760283 | - | | |
NM_000026.4(ADSL):c.1106T>C (p.Ile369Thr) | 158 | ADSL | Uncertain significance | rs755688868 | RCV000335846; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760284 | 40760284 | T | C | NC_000022.10:g.40760284T>C | ClinGen:CA10247923 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.1111C>T (p.Arg371Trp) | 158 | ADSL | Uncertain significance | rs777359946 | RCV000544204; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760289 | 40760289 | C | T | NC_000022.10:g.40760289C>T | ClinGen:CA324460176 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.1112G>A (p.Arg371Gln) | 158 | ADSL | Uncertain significance | rs192303222 | RCV000697137|RCV000723724; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202 | 22 | 40760290 | 40760290 | G | A | NC_000022.10:g.40760290G>A | ClinGen:CA220242 | | |
NM_000026.4(ADSL):c.1114C>A (p.Arg372Ser) | 158 | ADSL | Uncertain significance | rs778401578 | RCV000696185; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760292 | 40760292 | C | A | 22:g.40760292C>A | - | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.1115G>A (p.Arg372His) | 158 | ADSL | Uncertain significance | rs150228971 | RCV000186688|RCV000467182; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760293 | 40760293 | G | A | NC_000022.10:g.40760293G>A | ClinGen:CA313108 | | |
NM_000026.4(ADSL):c.1120C>T (p.Arg374Trp) | 158 | ADSL | Uncertain significance | rs376533026 | RCV000427780|RCV000821230; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760298 | 40760298 | C | T | NC_000022.10:g.40760298C>T | ClinGen:CA10247929 | | |
NM_000026.4(ADSL):c.1121G>A (p.Arg374Gln) | 158 | ADSL | Uncertain significance | rs568567422 | RCV000483104|RCV000634533; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760299 | 40760299 | G | A | NC_000022.10:g.40760299G>A | ClinGen:CA10247930 | | |
NM_000026.4(ADSL):c.1122G>T (p.Arg374=) | 158 | ADSL | Likely benign | -1 | RCV001436627; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760300 | 40760300 | G | T | 40760300 | - | | |
NM_000026.4(ADSL):c.1128G>C (p.Glu376Asp) | 158 | ADSL | Conflicting interpretations of pathogenicity | rs796052247 | RCV000186689|RCV001852436; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760306 | 40760306 | G | C | NC_000022.10:g.40760306G>C | ClinGen:CA313110 | | |
NM_000026.4(ADSL):c.1128G>A (p.Glu376=) | 158 | ADSL | Likely benign | -1 | RCV002181391; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760306 | 40760306 | G | A | 40760306 | - | | |
NM_000026.4(ADSL):c.1138A>G (p.Met380Val) | 158 | ADSL | Uncertain significance | -1 | RCV002005733; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760316 | 40760316 | A | G | 40760316 | - | | |
NM_000026.4(ADSL):c.1145C>T (p.Thr382Ile) | 158 | ADSL | Uncertain significance | -1 | RCV001990163; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760323 | 40760323 | C | T | 40760323 | - | | |
NM_000026.4(ADSL):c.1152CAT[2] (p.Ile386del) | 158 | ADSL | Likely pathogenic | rs1601596522 | RCV000990448; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760330 | 40760332 | ACAT | A | 22:g.40760330_40760332del | - | | |
NM_000026.4(ADSL):c.1159A>G (p.Met387Val) | 158 | ADSL | Uncertain significance | -1 | RCV001988172; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760337 | 40760337 | A | G | 40760337 | - | | |
NM_000026.4(ADSL):c.1167G>A (p.Met389Ile) | 158 | ADSL | Uncertain significance | rs766782678 | RCV000412930|RCV001351733; | N | MedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760345 | 40760345 | G | A | 22:g.40760345G>A | ClinGen:CA10247936 | CN169374 not specified; | |
NM_000026.4(ADSL):c.1186C>T (p.Arg396Cys) | 158 | ADSL | Conflicting interpretations of pathogenicity | rs755492501 | RCV001039703|RCV001268745; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202 | 22 | 40760364 | 40760364 | C | T | 22:g.40760364C>T | - | | |
NM_000026.4(ADSL):c.1187G>A (p.Arg396His) | 158 | ADSL | Pathogenic/Likely pathogenic | rs763542069 | RCV000186690|RCV000779373; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760365 | 40760365 | G | A | NC_000022.10:g.40760365G>A | ClinGen:CA313112,UniProtKB:P30566#VAR_017088 | | |
NM_000026.4(ADSL):c.1187del (p.Arg396fs) | 158 | ADSL | Pathogenic | rs2044916556 | RCV001203918; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760365 | 40760365 | CG | C | 22:g.40760365_40760365del | - | | |
NM_000026.4(ADSL):c.1191+12dup | 158 | ADSL | Likely benign | -1 | RCV001451543; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760377 | 40760378 | A | AC | 40760377 | - | | |
NM_000026.4(ADSL):c.1191+8A>T | 158 | ADSL | Likely benign | -1 | RCV002166393; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760377 | 40760377 | A | T | 40760377 | - | | |
NM_000026.4(ADSL):c.1191+9C>T | 158 | ADSL | Likely benign | rs371706528 | RCV000865875|RCV001704325; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202 | 22 | 40760378 | 40760378 | C | T | 22:g.40760378C>T | ClinGen:CA10247942 | CN169374 not specified; | |
NM_000026.4(ADSL):c.1191+10C>G | 158 | ADSL | Likely benign | -1 | RCV002192206; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760379 | 40760379 | C | G | 40760379 | - | | |
NM_000026.4(ADSL):c.1191+11C>A | 158 | ADSL | Likely benign | rs1057523739 | RCV000440784|RCV002063532; | N | MedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760380 | 40760380 | C | A | 22:g.40760380C>A | ClinGen:CA16608673 | CN169374 not specified; | |
NM_000026.4(ADSL):c.1191+17G>A | 158 | ADSL | Likely benign | -1 | RCV002207690; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760386 | 40760386 | G | A | 40760386 | - | | |
NM_000026.4(ADSL):c.1192-5C>T | 158 | ADSL | Likely benign | -1 | RCV001610053|RCV002072914; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760879 | 40760879 | C | T | 40760879 | - | | |
NM_000026.4(ADSL):c.1200T>C (p.His400=) | 158 | ADSL | Conflicting interpretations of pathogenicity | rs751401941 | RCV000407816; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760892 | 40760892 | T | C | NC_000022.10:g.40760892T>C | ClinGen:CA10247962 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.1207A>C (p.Ile403Leu) | 158 | ADSL | Uncertain significance | rs754714101 | RCV000174209|RCV001363767; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760899 | 40760899 | A | C | 22:g.40760899A>C | ClinGen:CA239717 | CN169374 not specified; | |
NM_000026.4(ADSL):c.1212A>C (p.Arg404Ser) | 158 | ADSL | Uncertain significance | rs781253590 | RCV000556894; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760904 | 40760904 | A | C | 22:g.40760904A>C | ClinGen:CA10247964 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.1222C>T (p.Gln408Ter) | 158 | ADSL | Pathogenic | -1 | RCV001950883; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760914 | 40760914 | C | T | 40760914 | - | | |
NM_000026.4(ADSL):c.1231G>A (p.Ala411Thr) | 158 | ADSL | Uncertain significance | rs1196254689 | RCV000795626; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760923 | 40760923 | G | A | 22:g.40760923G>A | - | | |
NM_000026.4(ADSL):c.1235C>T (p.Ser412Phe) | 158 | ADSL | Uncertain significance | rs571597579 | RCV001039736; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760927 | 40760927 | C | T | 22:g.40760927C>T | - | | |
NM_000026.4(ADSL):c.1240G>T (p.Val414Phe) | 158 | ADSL | Uncertain significance | -1 | RCV001952002; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760932 | 40760932 | G | T | 40760932 | - | | |
NM_000026.4(ADSL):c.1252G>C (p.Gly418Arg) | 158 | ADSL | Uncertain significance | rs372650859 | RCV001338975; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760944 | 40760944 | G | C | 40760944 | - | | |
NM_000026.4(ADSL):c.1253G>A (p.Gly418Glu) | 158 | ADSL | Uncertain significance | rs774693972 | RCV001144829; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760945 | 40760945 | G | A | 22:g.40760945G>A | - | | |
NM_000026.4(ADSL):c.1256G>T (p.Gly419Val) | 158 | ADSL | Uncertain significance | rs886057505 | RCV000300825; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760948 | 40760948 | G | T | NC_000022.10:g.40760948G>T | ClinGen:CA10651311 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.1258G>A (p.Asp420Asn) | 158 | ADSL | Uncertain significance | rs2044942817 | RCV001309060; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760950 | 40760950 | G | A | 40760950 | - | | |
NM_000026.4(ADSL):c.1261_1263del (p.Asn421del) | 158 | ADSL | Uncertain significance | -1 | RCV001928209; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760953 | 40760955 | CAAT | C | 40760952 | - | | |
NM_000026.4(ADSL):c.1262A>G (p.Asn421Ser) | 158 | ADSL | Uncertain significance | rs145750778 | RCV000186691|RCV000537481; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760954 | 40760954 | A | G | NC_000022.10:g.40760954A>G | ClinGen:CA313113 | | |
NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr) | 158 | ADSL | Uncertain significance | rs119450943 | RCV000002568; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760956 | 40760956 | G | T | 22:g.40760956G>T | ClinGen:CA115567,UniProtKB:P30566#VAR_017089,OMIM:608222.0004 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.1269C>A (p.Leu423=) | 158 | ADSL | Likely benign | -1 | RCV002188373; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760961 | 40760961 | C | A | 40760961 | - | | |
NM_000026.4(ADSL):c.1276C>T (p.Arg426Cys) | 158 | ADSL | Pathogenic | rs796052248 | RCV000186692|RCV001253786; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760968 | 40760968 | C | T | NC_000022.10:g.40760968C>T | ClinGen:CA313115 | | |
NM_000026.4(ADSL):c.1277G>A (p.Arg426His) | 158 | ADSL | Pathogenic | rs119450941 | RCV000002566|RCV000186693; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202 | 22 | 40760969 | 40760969 | G | A | 22:g.40760969G>A | ClinGen:CA115565,UniProtKB:P30566#VAR_007978,OMIM:608222.0002,ClinVar:208488 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.1279A>G (p.Ile427Val) | 158 | ADSL | Uncertain significance | rs758241731 | RCV000435716|RCV000696181; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760971 | 40760971 | A | G | NC_000022.10:g.40760971A>G | ClinGen:CA10247974 | | |
NM_000026.4(ADSL):c.1288G>A (p.Asp430Asn) | 158 | ADSL | Uncertain significance | rs554254383 | RCV001971049; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760980 | 40760980 | G | A | 40760980 | UniProtKB:P30566#VAR_017091 | | |
NM_000026.4(ADSL):c.1291G>A (p.Ala431Thr) | 158 | ADSL | Conflicting interpretations of pathogenicity | rs200814886 | RCV000186695|RCV000725224|RCV001489163; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40760983 | 40760983 | G | A | NC_000022.10:g.40760983G>A | ClinGen:CA313118 | | |
NM_000026.4(ADSL):c.1312T>C (p.Ser438Pro) | 158 | ADSL | Pathogenic | rs119450940 | RCV000002565; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40761004 | 40761004 | T | C | 22:g.40761004T>C | ClinGen:CA115564,UniProtKB:P30566#VAR_000680,OMIM:608222.0001 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.1314C>G (p.Ser438=) | 158 | ADSL | Likely benign | -1 | RCV001451269; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40761006 | 40761006 | C | G | 40761006 | - | | |
NM_000026.4(ADSL):c.1318T>C (p.Leu440=) | 158 | ADSL | Likely benign | -1 | RCV002146302; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40761010 | 40761010 | T | C | 40761010 | - | | |
NM_000026.4(ADSL):c.1337CTT[2] (p.Ser448del) | 158 | ADSL | Uncertain significance | rs796052252 | RCV000186709|RCV001036968; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40761029 | 40761031 | CCTT | C | NC_000022.10:g.40761029CTT[2] | ClinGen:CA313140 | | |
NM_000026.4(ADSL):c.1337C>A (p.Pro446His) | 158 | ADSL | Uncertain significance | rs755964863 | RCV000785042|RCV000726681; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46|MedGen:CN517202 | 22 | 40761029 | 40761029 | C | A | NC_000022.10:g.40761029C>A | ClinGen:CA10247979 | | |
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro) | 158 | ADSL | Conflicting interpretations of pathogenicity | rs777821034 | RCV000186696|RCV000763485; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40761031 | 40761031 | T | C | NC_000022.10:g.40761031T>C | ClinGen:CA313120,UniProtKB:P30566#VAR_017092 | | |
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro) | 158 | ADSL | Conflicting interpretations of pathogenicity | rs771121666 | RCV000224729|RCV000526230; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40761034 | 40761034 | T | C | NC_000022.10:g.40761034T>C | ClinGen:CA10247981 | | |
NM_000026.4(ADSL):c.1343C>G (p.Ser448Cys) | 158 | ADSL | Uncertain significance | rs1265053994 | RCV000822391; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40761035 | 40761035 | C | G | 22:g.40761035C>G | - | | |
NM_000026.4(ADSL):c.1349C>G (p.Thr450Ser) | 158 | ADSL | Likely pathogenic | rs372895468 | RCV000186712|RCV001781543; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40761041 | 40761041 | C | G | NC_000022.10:g.40761041C>G | ClinGen:CA313145,UniProtKB:P30566#VAR_016932 | | |
NM_000026.4(ADSL):c.1349C>T (p.Thr450Ile) | 158 | ADSL | Uncertain significance | -1 | RCV001369328; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40761041 | 40761041 | C | T | 40761041 | - | | |
NM_000026.4(ADSL):c.1350T>C (p.Thr450=) | 158 | ADSL | Likely benign | rs200300396 | RCV000634545; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40761042 | 40761042 | T | C | NC_000022.10:g.40761042T>C | ClinGen:CA10247982 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.1354C>T (p.Arg452Cys) | 158 | ADSL | Uncertain significance | rs572438339 | RCV001144830; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40761046 | 40761046 | C | T | 22:g.40761046C>T | - | | |
NM_000026.4(ADSL):c.1355G>A (p.Arg452His) | 158 | ADSL | Uncertain significance | rs775671027 | RCV000634538; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40761047 | 40761047 | G | A | NC_000022.10:g.40761047G>A | ClinGen:CA10247984 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.1355G>C (p.Arg452Pro) | 158 | ADSL | Likely pathogenic | -1 | RCV002010963; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40761047 | 40761047 | G | C | 40761047 | - | | |
NM_000026.4(ADSL):c.1358C>A (p.Ala453Asp) | 158 | ADSL | Uncertain significance | rs2044948939 | RCV001313022; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40761050 | 40761050 | C | A | 40761050 | - | | |
NM_000026.4(ADSL):c.1359C>T (p.Ala453=) | 158 | ADSL | Likely benign | rs1601598300 | RCV000938289|RCV001414468; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40761051 | 40761051 | C | T | 22:g.40761051C>T | - | | |
NM_000026.4(ADSL):c.1365G>T (p.Gln455His) | 158 | ADSL | Uncertain significance | rs1011687452 | RCV001048058; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40761057 | 40761057 | G | T | 22:g.40761057G>T | - | | |
NM_000026.4(ADSL):c.1368+4A>C | 158 | ADSL | Uncertain significance | -1 | RCV002002918; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40761064 | 40761064 | A | C | 40761064 | - | | |
NM_000026.4(ADSL):c.1368+8del | 158 | ADSL | Likely benign | rs758319423 | RCV000478334|RCV000873236; | N | MedGen:CN169374|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40761067 | 40761067 | CT | C | 22:g.40761067_40761067del | ClinGen:CA10247986 | CN169374 not specified; | |
NM_000026.4(ADSL):c.1368+10C>T | 158 | ADSL | Likely benign | rs1330219053 | RCV000869657|RCV001479043; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40761070 | 40761070 | C | T | 22:g.40761070C>T | - | | |
NM_000026.4(ADSL):c.1369G>T (p.Val457Leu) | 158 | ADSL | Uncertain significance | -1 | RCV002010606; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40762440 | 40762440 | G | T | 40762440 | - | | |
NM_000026.4(ADSL):c.1380C>T (p.Phe460=) | 158 | ADSL | Likely benign | -1 | RCV002182218; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40762451 | 40762451 | C | T | 40762451 | - | | |
NM_000026.4(ADSL):c.1393G>C (p.Val465Leu) | 158 | ADSL | Uncertain significance | rs1569104977 | RCV000767890; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40762464 | 40762464 | G | C | NC_000022.10:g.40762464G>C | - | | |
NM_000026.4(ADSL):c.1400C>G (p.Pro467Arg) | 158 | ADSL | Conflicting interpretations of pathogenicity | rs1057521071 | RCV000438014|RCV000688125; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40762471 | 40762471 | C | G | NC_000022.10:g.40762471C>G | ClinGen:CA16609100 | | |
NM_000026.4(ADSL):c.1405T>A (p.Leu469Ile) | 158 | ADSL | Uncertain significance | rs768999974 | RCV000634535; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40762476 | 40762476 | T | A | NC_000022.10:g.40762476T>A | ClinGen:CA411649238 | C0268126 103050 Adenylosuccinate lyase deficiency; | |
NM_000026.4(ADSL):c.1413A>G (p.Pro471=) | 158 | ADSL | Uncertain significance | rs796674225 | RCV000796829; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40762484 | 40762484 | A | G | 22:g.40762484A>G | - | | |
NM_000026.4(ADSL):c.1416T>C (p.Tyr472=) | 158 | ADSL | Likely benign | -1 | RCV001451067; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40762487 | 40762487 | T | C | 40762487 | - | | |
NM_000026.4(ADSL):c.1422C>T (p.Ser474=) | 158 | ADSL | Likely benign | rs748593655 | RCV000924781|RCV001430088; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40762493 | 40762493 | C | T | 22:g.40762493C>T | - | | |
NM_000026.4(ADSL):c.1422C>G (p.Ser474Arg) | 158 | ADSL | Uncertain significance | -1 | RCV001973296; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40762493 | 40762493 | C | G | 40762493 | - | | |
NM_000026.4(ADSL):c.1423G>A (p.Val475Met) | 158 | ADSL | Uncertain significance | -1 | RCV001927594; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40762494 | 40762494 | G | A | 40762494 | - | | |
NM_000026.4(ADSL):c.1428G>A (p.Met476Ile) | 158 | ADSL | Uncertain significance | -1 | RCV001878718; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40762499 | 40762499 | G | A | 40762499 | - | | |
NM_000026.4(ADSL):c.1439C>G (p.Ala480Gly) | 158 | ADSL | Uncertain significance | rs796052250 | RCV000727388|RCV001313688; | N | MedGen:CN517202|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40762510 | 40762510 | C | G | NC_000022.10:g.40762510C>G | ClinGen:CA313123 | | |
NM_000026.4(ADSL):c.1443A>C (p.Glu481Asp) | 158 | ADSL | Uncertain significance | -1 | RCV001365973; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40762514 | 40762514 | A | C | 40762514 | - | | |
NM_000026.4(ADSL):c.1444T>C (p.Leu482=) | 158 | ADSL | Likely benign | -1 | RCV001942040; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40762515 | 40762515 | T | C | 40762515 | - | | |
NM_000026.4(ADSL):c.1448G>A (p.Cys483Tyr) | 158 | ADSL | Uncertain significance | -1 | RCV001898164; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40762519 | 40762519 | G | A | 40762519 | - | | |
NM_000026.4(ADSL):c.*45A>T | 158 | ADSL | Uncertain significance | rs180726920 | RCV000362664; | N | MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46 | 22 | 40762571 | 40762571 | A | T | NC_000022.10:g.40762571A>T | ClinGen:CA10248020 | C0268126 103050 Adenylosuccinate lyase deficiency; | |