ClinVar Miner

List of variants in gene NSD1 reported as likely benign for Weaver syndrome

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Gene type:
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Total variants: 51
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HGVS dbSNP
NM_022455.4(NSD1):c.*1053C>A rs139257248
NM_022455.4(NSD1):c.*1116G>A rs75224805
NM_022455.4(NSD1):c.*1542A>G rs551304965
NM_022455.4(NSD1):c.*1870G>A rs566513882
NM_022455.4(NSD1):c.*209G>T rs371876700
NM_022455.4(NSD1):c.*2160A>C rs144806239
NM_022455.4(NSD1):c.*2395T>C rs113322699
NM_022455.4(NSD1):c.*3098dupA rs145155077
NM_022455.4(NSD1):c.*3141G>A rs75981583
NM_022455.4(NSD1):c.*3279G>T rs78749307
NM_022455.4(NSD1):c.*3291A>G rs142054758
NM_022455.4(NSD1):c.*3495A>G rs80330628
NM_022455.4(NSD1):c.*3827T>C rs118177896
NM_022455.4(NSD1):c.*4027T>C rs114048132
NM_022455.4(NSD1):c.*407G>A rs140990285
NM_022455.4(NSD1):c.*4199T>G rs78991579
NM_022455.4(NSD1):c.*4331C>G rs187514085
NM_022455.4(NSD1):c.*4344C>T rs531214385
NM_022455.4(NSD1):c.*4360T>G rs536849961
NM_022455.4(NSD1):c.*4459G>T rs551390187
NM_022455.4(NSD1):c.*4541dupA rs199804578
NM_022455.4(NSD1):c.*800G>A rs116094681
NM_022455.4(NSD1):c.-8G>A rs199639292
NM_022455.4(NSD1):c.1317C>T (p.Asn439=) rs150421873
NM_022455.4(NSD1):c.1558G>A (p.Ala520Thr) rs559617787
NM_022455.4(NSD1):c.1792T>C (p.Leu598=) rs28932176
NM_022455.4(NSD1):c.2071G>A (p.Ala691Thr) rs28932177
NM_022455.4(NSD1):c.2170G>A (p.Glu724Lys) rs771456995
NM_022455.4(NSD1):c.2339C>T (p.Ser780Leu) rs201327209
NM_022455.4(NSD1):c.2601C>A (p.Leu867=) rs368078696
NM_022455.4(NSD1):c.2696T>C (p.Ile899Thr) rs142703625
NM_022455.4(NSD1):c.2835T>C (p.Ser945=) rs145987330
NM_022455.4(NSD1):c.3106G>C (p.Ala1036Pro) rs28932179
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.3540A>G (p.Lys1180=) rs776683728
NM_022455.4(NSD1):c.3564G>C (p.Arg1188Ser) rs199814669
NM_022455.4(NSD1):c.3649C>T (p.Pro1217Ser) rs372004424
NM_022455.4(NSD1):c.3722G>C (p.Ser1241Thr) rs138641637
NM_022455.4(NSD1):c.4307A>G (p.Tyr1436Cys) rs574641900
NM_022455.4(NSD1):c.4498-10delT rs200890017
NM_022455.4(NSD1):c.4564G>A (p.Asp1522Asn) rs201483724
NM_022455.4(NSD1):c.4642-7T>C rs183928380
NM_022455.4(NSD1):c.480C>T (p.Asp160=) rs79427433
NM_022455.4(NSD1):c.5712C>T (p.Pro1904=) rs756321444
NM_022455.4(NSD1):c.5781C>G (p.Ala1927=) rs61749654
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.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

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