ClinVar Miner

Variants with conflicting interpretations studied for Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia

Coded as:
Minimum review status of the submission for Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia: Y axis collection method of the submission for Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
161 67 0 77 47 0 2 105

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.

All conditions
Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 0 1 0 9 1
likely benign 0 0 14 0 6
benign 0 0 23 69 0

Condition to condition summary #

Total conditions: 10
Download table as spreadsheet
Condition 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
not specified 0 51 0 57 16 0 0 71
not provided 0 42 0 11 23 0 2 32
Cardiovascular phenotype 0 46 0 23 6 0 0 29
Connective tissue disorder 0 4 0 20 0 0 0 20
History of neurodevelopmental disorder 0 39 0 17 3 0 0 20
Periventricular nodular heterotopia 1 0 1 0 1 4 0 0 5
Aortic aneurysm, familial thoracic 2 0 0 0 0 1 0 0 1
Aortic dilatation 0 0 0 0 1 0 0 1
Oto-palato-digital syndrome, type I 0 0 0 1 0 0 0 1
Oto-palato-digital syndrome, type II 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 105
Download table as spreadsheet
HGVS dbSNP
NM_001110556.1(FLNA):c.1176G>A (p.Glu392=) rs201173693
NM_001110556.1(FLNA):c.1286C>T (p.Thr429Met) rs36051194
NM_001110556.1(FLNA):c.1429+8C>T rs202181557
NM_001110556.1(FLNA):c.2023-4C>G rs368719012
NM_001110556.1(FLNA):c.2023-6C>T rs372021340
NM_001110556.1(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204
NM_001110556.1(FLNA):c.3557C>T (p.Ser1186Leu) rs137853312
NM_001110556.1(FLNA):c.3690C>T (p.Thr1230=) rs35015603
NM_001110556.1(FLNA):c.4060G>A (p.Asp1354Asn) rs377390031
NM_001110556.1(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110556.1(FLNA):c.4866C>T (p.Tyr1622=) rs200835571
NM_001110556.1(FLNA):c.4920G>A (p.Gly1640=) rs61741041
NM_001110556.1(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893
NM_001110556.1(FLNA):c.543G>A (p.Pro181=) rs201486643
NM_001110556.1(FLNA):c.586C>T (p.Arg196Trp) rs137853317
NM_001110556.1(FLNA):c.663C>T (p.Pro221=) rs2073470
NM_001110556.1(FLNA):c.6742C>T (p.Leu2248=) rs113510895
NM_001456.3(FLNA):c.1029C>T (p.Ser343=) rs199853721
NM_001456.3(FLNA):c.1030G>A (p.Val344Ile) rs782007408
NM_001456.3(FLNA):c.1191C>T (p.Ile397=) rs200048692
NM_001456.3(FLNA):c.1239G>A (p.Thr413=) rs200278701
NM_001456.3(FLNA):c.1291G>C (p.Glu431Gln) rs781915319
NM_001456.3(FLNA):c.1439C>T (p.Pro480Leu) rs782168634
NM_001456.3(FLNA):c.1450C>T (p.Arg484Trp) rs61730768
NM_001456.3(FLNA):c.1579C>T (p.Arg527Cys) rs202029322
NM_001456.3(FLNA):c.1582G>A (p.Val528Met) rs143873938
NM_001456.3(FLNA):c.1587G>A (p.Lys529=) rs782615607
NM_001456.3(FLNA):c.1621G>A (p.Glu541Lys) rs743546
NM_001456.3(FLNA):c.1691+7C>A rs199565118
NM_001456.3(FLNA):c.1813G>A (p.Asp605Asn) rs201093148
NM_001456.3(FLNA):c.1828+3A>G rs368041880
NM_001456.3(FLNA):c.1875C>T (p.Asp625=) rs200660642
NM_001456.3(FLNA):c.1900C>G (p.Arg634Gly) rs111516546
NM_001456.3(FLNA):c.1968C>T (p.Leu656=) rs73638274
NM_001456.3(FLNA):c.1997C>T (p.Ala666Val) rs374295965
NM_001456.3(FLNA):c.2103C>T (p.His701=) rs200227077
NM_001456.3(FLNA):c.2178C>T (p.Asn726=) rs371501734
NM_001456.3(FLNA):c.2205C>T (p.Tyr735=) rs782551055
NM_001456.3(FLNA):c.2313G>A (p.Lys771=) rs782741007
NM_001456.3(FLNA):c.2389G>A (p.Ala797Thr) rs201073998
NM_001456.3(FLNA):c.2405-4G>A rs368187218
NM_001456.3(FLNA):c.2433C>T (p.Ala811=) rs35986650
NM_001456.3(FLNA):c.2449C>T (p.Pro817Ser) rs200053635
NM_001456.3(FLNA):c.2516C>T (p.Thr839Met) rs201603843
NM_001456.3(FLNA):c.2613C>T (p.Asp871=) rs188212919
NM_001456.3(FLNA):c.2725G>A (p.Val909Ile) rs199911951
NM_001456.3(FLNA):c.2845G>A (p.Val949Ile) rs201656372
NM_001456.3(FLNA):c.3036G>A (p.Ser1012=) rs373908435
NM_001456.3(FLNA):c.3045G>A (p.Ala1015=) rs370868704
NM_001456.3(FLNA):c.3147C>T (p.Gly1049=) rs398123615
NM_001456.3(FLNA):c.3270C>T (p.Ile1090=) rs79391751
NM_001456.3(FLNA):c.3285C>T (p.Ala1095=) rs199530601
NM_001456.3(FLNA):c.3330G>A (p.Ala1110=) rs781917512
NM_001456.3(FLNA):c.3379G>A (p.Val1127Met) rs398123617
NM_001456.3(FLNA):c.3420C>T (p.Phe1140=) rs782219300
NM_001456.3(FLNA):c.3421G>A (p.Ala1141Thr) rs201908251
NM_001456.3(FLNA):c.3429C>G (p.Thr1143=) rs183899917
NM_001456.3(FLNA):c.3522C>T (p.Thr1174=) rs373625856
NM_001456.3(FLNA):c.3678C>T (p.Pro1226=) rs377579695
NM_001456.3(FLNA):c.3708C>T (p.Gly1236=) rs200363918
NM_001456.3(FLNA):c.3756G>A (p.Ala1252=) rs186619828
NM_001456.3(FLNA):c.3876C>T (p.His1292=) rs199917719
NM_001456.3(FLNA):c.3915G>A (p.Thr1305=) rs201488545
NM_001456.3(FLNA):c.3995A>G (p.Asp1332Gly) rs200615848
NM_001456.3(FLNA):c.4106C>T (p.Thr1369Ile) rs376774130
NM_001456.3(FLNA):c.4179G>A (p.Glu1393=) rs182074603
NM_001456.3(FLNA):c.4233G>A (p.Ser1411=) rs34439033
NM_001456.3(FLNA):c.4263C>T (p.Thr1421=) rs398123618
NM_001456.3(FLNA):c.4420G>A (p.Asp1474Asn) rs782129236
NM_001456.3(FLNA):c.4475-4C>T rs199652065
NM_001456.3(FLNA):c.4551G>C (p.Gly1517=) rs370476531
NM_001456.3(FLNA):c.4737G>C (p.Leu1579=) rs201904661
NM_001456.3(FLNA):c.4908C>T (p.Ala1636=) rs367979917
NM_001456.3(FLNA):c.5169G>A (p.Val1723=) rs201458268
NM_001456.3(FLNA):c.5194-4G>A rs370196495
NM_001456.3(FLNA):c.5227C>T (p.Pro1743Ser) rs56102764
NM_001456.3(FLNA):c.5289+4C>T rs377330443
NM_001456.3(FLNA):c.5318A>G (p.Asn1773Ser) rs373089783
NM_001456.3(FLNA):c.5592G>C (p.Gly1864=) rs782204300
NM_001456.3(FLNA):c.5634C>T (p.Phe1878=) rs182894587
NM_001456.3(FLNA):c.5948C>T (p.Ser1983Leu) rs187029309
NM_001456.3(FLNA):c.5999-10C>G rs72616474
NM_001456.3(FLNA):c.62_64dupTCG (p.Val21_Asp22insVal) rs782721874
NM_001456.3(FLNA):c.6326A>G (p.Asn2109Ser) rs375205247
NM_001456.3(FLNA):c.6479-9A>G rs781919390
NM_001456.3(FLNA):c.65A>G (p.Asp22Gly) rs782598729
NM_001456.3(FLNA):c.6618G>C (p.Val2206=) rs1064822
NM_001456.3(FLNA):c.6969C>T (p.Asp2323=) rs201153928
NM_001456.3(FLNA):c.7068C>A (p.Ile2356=) rs782591917
NM_001456.3(FLNA):c.7197C>T (p.Asn2399=) rs782129907
NM_001456.3(FLNA):c.7198G>A (p.Gly2400Ser) rs201168500
NM_001456.3(FLNA):c.7200C>T (p.Gly2400=) rs12008807
NM_001456.3(FLNA):c.7243C>T (p.Pro2415Ser) rs200198847
NM_001456.3(FLNA):c.732C>T (p.Pro244=) rs371092631
NM_001456.3(FLNA):c.7338G>A (p.Thr2446=) rs369179210
NM_001456.3(FLNA):c.7365G>A (p.Ser2455=) rs373103712
NM_001456.3(FLNA):c.7426C>T (p.Arg2476Cys) rs782557713
NM_001456.3(FLNA):c.7482C>T (p.Gly2494=) rs200195310
NM_001456.3(FLNA):c.753C>T (p.Asn251=) rs377507152
NM_001456.3(FLNA):c.759C>T (p.Asp253=) rs782701643
NM_001456.3(FLNA):c.7625C>T (p.Pro2542Leu) rs371724771
NM_001456.3(FLNA):c.7732+8A>G rs201663443
NM_001456.3(FLNA):c.7755_7756insTTCGGGG (p.Val2586Phefs) rs1557175195
NM_001456.3(FLNA):c.861C>T (p.Tyr287=) rs375503410
NM_001456.3(FLNA):c.942A>G (p.Gly314=) rs200763980

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