ClinVar Miner

Variants in gene ALMS1 with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
1012 171 0 46 44 0 4 86

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 4 0 0 0
likely pathogenic 4 0 3 1 0
uncertain significance 0 3 0 43 9
likely benign 0 1 43 0 42
benign 0 0 9 42 0

All variants with conflicting interpretations #

Total variants: 86
Download table as spreadsheet
HGVS dbSNP
NM_015120.4(ALMS1):c.10241A>G (p.Glu3414Gly) rs184779459
NM_015120.4(ALMS1):c.10275G>C (p.Lys3425Asn) rs34398445
NM_015120.4(ALMS1):c.10306A>G (p.Lys3436Glu) rs34071195
NM_015120.4(ALMS1):c.103_108dupGCGGCG (p.Ala36_Asn37insAlaAla) rs746896173
NM_015120.4(ALMS1):c.10467A>G (p.Val3489=) rs28730858
NM_015120.4(ALMS1):c.10631C>G (p.Thr3544Ser) rs45501594
NM_015120.4(ALMS1):c.10754A>T (p.Gln3585Leu) rs144486524
NM_015120.4(ALMS1):c.11086delA (p.Ser3696Alafs) rs1412574975
NM_015120.4(ALMS1):c.11331C>T (p.His3777=) rs45596541
NM_015120.4(ALMS1):c.11604C>T (p.Phe3868=) rs80009262
NM_015120.4(ALMS1):c.11748C>T (p.Ser3916=) rs147831309
NM_015120.4(ALMS1):c.11751G>A (p.Glu3917=) rs373364340
NM_015120.4(ALMS1):c.11768A>G (p.Asn3923Ser) rs199874928
NM_015120.4(ALMS1):c.11824G>A (p.Gly3942Ser) rs61741524
NM_015120.4(ALMS1):c.1185T>C (p.Tyr395=) rs139512700
NM_015120.4(ALMS1):c.11875+18G>A rs139647347
NM_015120.4(ALMS1):c.12441G>T (p.Arg4147=) rs35902379
NM_015120.4(ALMS1):c.1270G>A (p.Val424Ile) rs45630557
NM_015120.4(ALMS1):c.1456A>G (p.Ile486Val) rs73945001
NM_015120.4(ALMS1):c.1577_1579delCTC (p.Pro526del) rs34628045
NM_015120.4(ALMS1):c.1868A>G (p.Tyr623Cys) rs193922693
NM_015120.4(ALMS1):c.1874A>G (p.His625Arg) rs41291187
NM_015120.4(ALMS1):c.2041C>G (p.Arg681Gly) rs115444326
NM_015120.4(ALMS1):c.210C>T (p.Asp70=) rs752874408
NM_015120.4(ALMS1):c.2419G>C (p.Val807Leu) rs138921247
NM_015120.4(ALMS1):c.2661A>G (p.Lys887=) rs80133984
NM_015120.4(ALMS1):c.2733C>T (p.His911=) rs189923349
NM_015120.4(ALMS1):c.2767C>T (p.Leu923=) rs143885319
NM_015120.4(ALMS1):c.3095C>G (p.Thr1032Ser) rs199922877
NM_015120.4(ALMS1):c.3196T>C (p.Ser1066Pro) rs28730852
NM_015120.4(ALMS1):c.3378A>G (p.Val1126=) rs189914793
NM_015120.4(ALMS1):c.3575delT (p.Phe1192Serfs)
NM_015120.4(ALMS1):c.358C>T (p.Gln120Ter) rs751804613
NM_015120.4(ALMS1):c.3735G>A (p.Lys1245=) rs140670994
NM_015120.4(ALMS1):c.4137T>C (p.Ser1379=) rs200491758
NM_015120.4(ALMS1):c.4166C>T (p.Pro1389Leu) rs377354387
NM_015120.4(ALMS1):c.4332G>T (p.Leu1444Phe) rs192499639
NM_015120.4(ALMS1):c.4347A>G (p.Leu1449=) rs200459890
NM_015120.4(ALMS1):c.4403G>T (p.Gly1468Val) rs78102263
NM_015120.4(ALMS1):c.454-5T>G rs774098604
NM_015120.4(ALMS1):c.4608A>G (p.Gln1536=) rs144720929
NM_015120.4(ALMS1):c.4888C>T (p.Arg1630Trp) rs201874722
NM_015120.4(ALMS1):c.4991C>T (p.Thr1664Ile) rs188807564
NM_015120.4(ALMS1):c.5145T>G (p.Tyr1715Ter) rs772136379
NM_015120.4(ALMS1):c.5179dup (p.Leu1727Profs) rs1553404020
NM_015120.4(ALMS1):c.5192A>G (p.Glu1731Gly) rs201390755
NM_015120.4(ALMS1):c.5200C>T (p.Gln1734Ter) rs750136202
NM_015120.4(ALMS1):c.5436G>C (p.Lys1812Asn) rs78039319
NM_015120.4(ALMS1):c.5460G>A (p.Glu1820=) rs886038613
NM_015120.4(ALMS1):c.6010A>G (p.Ile2004Val) rs7587103
NM_015120.4(ALMS1):c.60_77del18 (p.Glu24_Glu29del) rs55889738
NM_015120.4(ALMS1):c.614A>C (p.Glu205Ala) rs200054604
NM_015120.4(ALMS1):c.6364G>C (p.Val2122Leu) rs200368564
NM_015120.4(ALMS1):c.63_77delGGAGGAGGAGGAGGA (p.Glu25_Glu29del) rs55889738
NM_015120.4(ALMS1):c.63_77dup (p.Glu29_Ala30insGluGluGluGluGlu) rs55889738
NM_015120.4(ALMS1):c.6467A>G (p.Asp2156Gly) rs58093963
NM_015120.4(ALMS1):c.6540C>T (p.Thr2180=) rs371511963
NM_015120.4(ALMS1):c.6556C>T (p.Pro2186Ser) rs77555300
NM_015120.4(ALMS1):c.6618A>T (p.Leu2206=) rs375011895
NM_015120.4(ALMS1):c.66_77delGGAGGAGGAGGA (p.Glu26_Glu29del) rs55889738
NM_015120.4(ALMS1):c.671C>A (p.Ser224Tyr) rs886038615
NM_015120.4(ALMS1):c.6755A>G (p.Asp2252Gly) rs28730855
NM_015120.4(ALMS1):c.69_77dupGGAGGAGGA (p.Glu29_Ala30insGluGluGlu) rs55889738
NM_015120.4(ALMS1):c.7271A>G (p.Asn2424Ser) rs75145370
NM_015120.4(ALMS1):c.72_77delGGAGGA (p.Glu28_Glu29del) rs55889738
NM_015120.4(ALMS1):c.72_77dupGGAGGA (p.Glu29_Ala30insGluGlu) rs55889738
NM_015120.4(ALMS1):c.75_77delGGA (p.Glu29del) rs55889738
NM_015120.4(ALMS1):c.75_77dupGGA (p.Glu29_Ala30insGlu) rs55889738
NM_015120.4(ALMS1):c.762T>A (p.Pro254=) rs201478438
NM_015120.4(ALMS1):c.825T>C (p.Ser275=) rs145009331
NM_015120.4(ALMS1):c.8260C>A (p.His2754Asn) rs200718841
NM_015120.4(ALMS1):c.8442A>G (p.Glu2814=) rs886038617
NM_015120.4(ALMS1):c.8448A>G (p.Ser2816=) rs137932254
NM_015120.4(ALMS1):c.864C>T (p.Asp288=) rs377281121
NM_015120.4(ALMS1):c.8745A>G (p.Val2915=) rs142611294
NM_015120.4(ALMS1):c.8793dup (p.Glu2932Terfs) rs1553409778
NM_015120.4(ALMS1):c.8838C>G (p.Asn2946Lys) rs35062203
NM_015120.4(ALMS1):c.8886G>A (p.Pro2962=) rs367862140
NM_015120.4(ALMS1):c.8922G>A (p.Ala2974=) rs116854981
NM_015120.4(ALMS1):c.9392C>G (p.Pro3131Arg) rs200586877
NM_015120.4(ALMS1):c.9620C>T (p.Thr3207Ile) rs201624771
NM_015120.4(ALMS1):c.9789G>A (p.Gln3263=) rs757139660
NM_015120.4(ALMS1):c.9825C>G (p.Thr3275=) rs201446579
NM_015120.4(ALMS1):c.9870G>A (p.Pro3290=) rs773900415
NM_015120.4(ALMS1):c.9883G>C (p.Asp3295His) rs200441305
NM_015120.4(ALMS1):c.9889A>G (p.Thr3297Ala) rs58806616

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.