ClinVar Miner

Variants in gene NSD1 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
583 151 0 50 33 1 5 77

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 association drug response
pathogenic 0 11 2 1 1 1 1
likely pathogenic 10 0 3 1 0 0 0
uncertain significance 1 3 0 31 11 0 0
likely benign 0 1 31 0 39 0 0
benign 0 0 11 39 0 0 0

All variants with conflicting interpretations #

Total variants: 77
Download table as spreadsheet
NM_022455.4(NSD1):c.-8G>A rs199639292
NM_022455.4(NSD1):c.1064-5C>A rs961502921
NM_022455.4(NSD1):c.1149C>T (p.Ile383=) rs34921128
NM_022455.4(NSD1):c.1317C>T (p.Asn439=) rs150421873
NM_022455.4(NSD1):c.1364T>C (p.Met455Thr) rs143585233
NM_022455.4(NSD1):c.1495G>A (p.Ala499Thr) rs587784075
NM_022455.4(NSD1):c.1558G>A (p.Ala520Thr) rs559617787
NM_022455.4(NSD1):c.1690G>T (p.Ala564Ser) rs116520623
NM_022455.4(NSD1):c.1792T>C (p.Leu598=) rs28932176
NM_022455.4(NSD1):c.1980C>T (p.Asn660=) rs140072393
NM_022455.4(NSD1):c.2031T>G (p.Ser677=) rs143705256
NM_022455.4(NSD1):c.2071G>A (p.Ala691Thr) rs28932177
NM_022455.4(NSD1):c.2169C>T (p.Thr723=) rs11948062
NM_022455.4(NSD1):c.2295C>T (p.Asn765=) rs146767413
NM_022455.4(NSD1):c.2339C>T (p.Ser780Leu) rs201327209
NM_022455.4(NSD1):c.2450C>T (p.Ser817Phe) rs115722008
NM_022455.4(NSD1):c.2465C>G (p.Ser822Cys) rs377684553
NM_022455.4(NSD1):c.2601C>A (p.Leu867=) rs368078696
NM_022455.4(NSD1):c.2835T>C (p.Ser945=) rs145987330
NM_022455.4(NSD1):c.3000C>T (p.Ser1000=) rs150854966
NM_022455.4(NSD1):c.3088T>C (p.Leu1030=) rs61756006
NM_022455.4(NSD1):c.3089T>C (p.Leu1030Ser) rs200856103
NM_022455.4(NSD1):c.3106G>C (p.Ala1036Pro) rs28932179
NM_022455.4(NSD1):c.3150C>T (p.Thr1050=) rs144257298
NM_022455.4(NSD1):c.3187A>G (p.Thr1063Ala) rs193290006
NM_022455.4(NSD1):c.3215G>A (p.Arg1072Gln) rs28932180
NM_022455.4(NSD1):c.3389A>G (p.Glu1130Gly) rs113856002
NM_022455.4(NSD1):c.3393C>T (p.Asn1131=) rs150296373
NM_022455.4(NSD1):c.3394G>A (p.Gly1132Arg) rs570278983
NM_022455.4(NSD1):c.339C>T (p.Cys113=) rs77093936
NM_022455.4(NSD1):c.3564G>C (p.Arg1188Ser) rs199814669
NM_022455.4(NSD1):c.3803G>A (p.Arg1268Gln) rs368706736
NM_022455.4(NSD1):c.4303-4A>G rs775759198
NM_022455.4(NSD1):c.4307A>G (p.Tyr1436Cys) rs574641900
NM_022455.4(NSD1):c.4378+1G>A rs587784115
NM_022455.4(NSD1):c.4473G>T (p.Ser1491=) rs150920473
NM_022455.4(NSD1):c.4498-10del rs200890017
NM_022455.4(NSD1):c.4564G>A (p.Asp1522Asn) rs201483724
NM_022455.4(NSD1):c.4564G>T (p.Asp1522Tyr) rs201483724
NM_022455.4(NSD1):c.4605C>T (p.Arg1535=) rs140229717
NM_022455.4(NSD1):c.4642-7T>C rs183928380
NM_022455.4(NSD1):c.480C>T (p.Asp160=) rs79427433
NM_022455.4(NSD1):c.4817G>A (p.Cys1606Tyr) rs587784127
NM_022455.4(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437
NM_022455.4(NSD1):c.4966+15T>C rs587784130
NM_022455.4(NSD1):c.5007C>T (p.His1669=) rs146414176
NM_022455.4(NSD1):c.5303+1G>C rs587784141
NM_022455.4(NSD1):c.5304-1G>C rs863224905
NM_022455.4(NSD1):c.5520A>G (p.Glu1840=) rs140815139
NM_022455.4(NSD1):c.5712C>T (p.Pro1904=) rs756321444
NM_022455.4(NSD1):c.5740C>T (p.Arg1914Cys) rs587784154
NM_022455.4(NSD1):c.5781C>G (p.Ala1927=) rs61749654
NM_022455.4(NSD1):c.5885T>C (p.Ile1962Thr) rs587784162
NM_022455.4(NSD1):c.5927T>C (p.Ile1976Thr) rs587784167
NM_022455.4(NSD1):c.5989T>C (p.Tyr1997His) rs587784171
NM_022455.4(NSD1):c.6001C>T (p.Leu2001=) rs587784172
NM_022455.4(NSD1):c.6014G>A (p.Arg2005Gln) rs587784174
NM_022455.4(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_022455.4(NSD1):c.6173A>G (p.Tyr2058Cys) rs398124380
NM_022455.4(NSD1):c.6259-8A>T rs370529039
NM_022455.4(NSD1):c.6356A>G (p.Asp2119Gly) rs587784191
NM_022455.4(NSD1):c.6444T>C (p.Asn2148=) rs146601031
NM_022455.4(NSD1):c.6464-5T>C rs545039997
NM_022455.4(NSD1):c.6464-8G>T rs577262396
NM_022455.4(NSD1):c.6829T>C (p.Leu2277=) rs28580074
NM_022455.4(NSD1):c.7025C>T (p.Ser2342Leu) rs201609442
NM_022455.4(NSD1):c.7275A>G (p.Leu2425=) rs139879749
NM_022455.4(NSD1):c.72C>T (p.Ala24=) rs147146776
NM_022455.4(NSD1):c.7350T>C (p.Asn2450=) rs200241618
NM_022455.4(NSD1):c.7575C>T (p.Asp2525=) rs148891711
NM_022455.4(NSD1):c.7597C>G (p.Leu2533Val) rs398124386
NM_022455.4(NSD1):c.760C>T (p.Leu254Phe) rs149334244
NM_022455.4(NSD1):c.7636G>A (p.Ala2546Thr) rs78247455
NM_022455.4(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751
NM_022455.4(NSD1):c.7908C>T (p.Leu2636=) rs143159630
NM_172349.2(NSD1):c.5714_5716del (p.Phe1905del) rs587784206
Single allele

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