ClinVar Miner

Variants in gene MCPH1 with conflicting interpretations

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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 per condition Variants with at least 2 submissions on the same condition 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 conflict
188 31 3 19 15 0 0 35

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 uncertain significance likely benign benign
pathogenic 3 0 0 0
uncertain significance 0 0 10 7
likely benign 0 10 0 19
benign 0 7 19 0

All variants with conflicting interpretations #

Total variants: 35
Download table as spreadsheet
HGVS dbSNP
NC_000008.10:g.(?_6264113)_(6296618_6299587)del
NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly) rs2515569
NM_024596.5(MCPH1):c.1193C>T (p.Ala398Val) rs202241113
NM_024596.5(MCPH1):c.1233A>G (p.Ser411=) rs201026769
NM_024596.5(MCPH1):c.1236T>C (p.Tyr412=) rs142858644
NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr) rs77959215
NM_024596.5(MCPH1):c.1351G>A (p.Glu451Lys) rs202004426
NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn) rs548329168
NM_024596.5(MCPH1):c.1458A>G (p.Lys486=) rs192003514
NM_024596.5(MCPH1):c.1480G>A (p.Ala494Thr) rs183880522
NM_024596.5(MCPH1):c.1495G>A (p.Val499Met) rs146586991
NM_024596.5(MCPH1):c.1716C>T (p.Asn572=) rs141218500
NM_024596.5(MCPH1):c.1738A>G (p.Ser580Gly) rs17076894
NM_024596.5(MCPH1):c.1752A>G (p.Pro584=) rs372450763
NM_024596.5(MCPH1):c.1785T>C (p.Ser595=) rs146744659
NM_024596.5(MCPH1):c.182A>G (p.Asp61Gly) rs61749465
NM_024596.5(MCPH1):c.1845A>C (p.Thr615=) rs186547090
NM_024596.5(MCPH1):c.2215-19A>G rs2936531
NM_024596.5(MCPH1):c.2250G>T (p.Pro750=) rs370202384
NM_024596.5(MCPH1):c.2256C>T (p.Arg752=) rs35999761
NM_024596.5(MCPH1):c.2274C>T (p.Asp758=) rs186136373
NM_024596.5(MCPH1):c.228G>T (p.Val76=) rs2305022
NM_024596.5(MCPH1):c.23-15A>G rs146351889
NM_024596.5(MCPH1):c.2401A>G (p.Ser801Gly) rs45540031
NM_024596.5(MCPH1):c.2453-14C>T rs17077744
NM_024596.5(MCPH1):c.297C>T (p.His99=) rs727504012
NM_024596.5(MCPH1):c.427dup (p.Thr143fs) rs199422125
NM_024596.5(MCPH1):c.433C>T (p.Leu145=) rs139607465
NM_024596.5(MCPH1):c.477A>T (p.Ser159=) rs41313948
NM_024596.5(MCPH1):c.647T>C (p.Ile216Thr) rs75741316
NM_024596.5(MCPH1):c.664T>C (p.Cys222Arg) rs41313952
NM_024596.5(MCPH1):c.74C>G (p.Ser25Ter) rs121434305
NM_024596.5(MCPH1):c.90A>G (p.Thr30=) rs139678787
NM_024596.5(MCPH1):c.940G>C (p.Asp314His) rs930557
NM_024596.5(MCPH1):c.989A>G (p.Tyr330Cys) rs115088000

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