ClinVar Miner

List of variants in gene NSD1 reported as pathogenic by GeneDx

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Gene type:
ClinVar version:
Total variants: 81
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HGVS dbSNP
GRCh38/hg38 5q35.3(chr5:177228604-177246556)x1
GRCh38/hg38 5q35.3(chr5:177239706-177291908)x1
NM_022455.4(NSD1):c.1212_1213del (p.Lys405fs) rs886041217
NM_022455.4(NSD1):c.1288C>T (p.Gln430Ter) rs367809750
NM_022455.4(NSD1):c.1397C>G (p.Ser466Ter) rs1057520581
NM_022455.4(NSD1):c.1739_1740del (p.Lys580fs) rs1064796222
NM_022455.4(NSD1):c.1810C>T (p.Arg604Ter) rs587784076
NM_022455.4(NSD1):c.1831C>T (p.Arg611Ter) rs587784077
NM_022455.4(NSD1):c.2054dup (p.Tyr686fs) rs1554189269
NM_022455.4(NSD1):c.2108del (p.Leu703fs) rs886041550
NM_022455.4(NSD1):c.2150_2151AG[1] (p.Ser718fs) rs1064796161
NM_022455.4(NSD1):c.2163_2169del (p.Gly722fs) rs886041832
NM_022455.4(NSD1):c.2276C>A (p.Ser759Ter) rs587784084
NM_022455.4(NSD1):c.2362C>T (p.Arg788Ter) rs1057520339
NM_022455.4(NSD1):c.2386_2389del (p.Glu796fs) rs587784086
NM_022455.4(NSD1):c.2494A>T (p.Lys832Ter) rs1562209222
NM_022455.4(NSD1):c.2634_2635CT[1] (p.Ser879fs) rs1554189720
NM_022455.4(NSD1):c.2672_2676del (p.Ser891fs) rs1131691754
NM_022455.4(NSD1):c.2760_2763del (p.Ser920fs) rs1064794051
NM_022455.4(NSD1):c.2892_2914dup (p.Thr972fs) rs1554189871
NM_022455.4(NSD1):c.2952_2953CT[1] (p.Ser985fs) rs587784092
NM_022455.4(NSD1):c.2996_2997insTTAA (p.Ser1000_Asp1001insTer) rs1064793616
NM_022455.4(NSD1):c.3004_3005del (p.Lys1002fs) rs1554189941
NM_022455.4(NSD1):c.3091C>T (p.Arg1031Ter) rs587784096
NM_022455.4(NSD1):c.3230C>G (p.Ser1077Ter) rs1064793843
NM_022455.4(NSD1):c.3274C>T (p.Gln1092Ter) rs1562212423
NM_022455.4(NSD1):c.3290T>A (p.Leu1097Ter) rs1562212484
NM_022455.4(NSD1):c.3387_3389delinsGG (p.Phe1129fs) rs886039717
NM_022455.4(NSD1):c.3423_3424insCC (p.Asn1142fs) rs1064796081
NM_022455.4(NSD1):c.3457C>T (p.Gln1153Ter) rs1554190269
NM_022455.4(NSD1):c.3481C>T (p.Gln1161Ter) rs1554190292
NM_022455.4(NSD1):c.3546_3547CT[1] (p.Asn1182_Ser1183insTer) rs886039578
NM_022455.4(NSD1):c.3548_3549insG (p.Ser1183_Glu1184insTer) rs878855075
NM_022455.4(NSD1):c.3549dup (p.Glu1184Ter) rs797045813
NM_022455.4(NSD1):c.3575del (p.Pro1192fs) rs1064796114
NM_022455.4(NSD1):c.3581_3582delinsG (p.Asp1194fs) rs886041512
NM_022455.4(NSD1):c.3631_3632delinsA (p.Ala1211fs) rs886042047
NM_022455.4(NSD1):c.3958C>T (p.Arg1320Ter) rs121908070
NM_022455.4(NSD1):c.3964C>T (p.Arg1322Ter) rs587784107
NM_022455.4(NSD1):c.4217_4220del (p.Arg1406fs) rs794727930
NM_022455.4(NSD1):c.4301del (p.Lys1434fs) rs587784112
NM_022455.4(NSD1):c.4378+5G>C rs1064793218
NM_022455.4(NSD1):c.4417C>T (p.Arg1473Ter) rs587784117
NM_022455.4(NSD1):c.4632_4635TGTC[1] (p.Cys1546fs) rs1554197794
NM_022455.4(NSD1):c.4658del (p.Gly1553fs) rs886041615
NM_022455.4(NSD1):c.4753G>T (p.Glu1585Ter) rs587784126
NM_022455.4(NSD1):c.4765+1G>A rs1057520671
NM_022455.4(NSD1):c.4801del (p.Glu1601fs) rs1064793336
NM_022455.4(NSD1):c.4819_4820dup (p.Leu1608fs) rs1554199392
NM_022455.4(NSD1):c.4825delinsGA (p.Pro1609fs) rs1057518184
NM_022455.4(NSD1):c.5036C>G (p.Ser1679Ter) rs1064796184
NM_022455.4(NSD1):c.5110dup (p.His1704fs) rs1554200214
NM_022455.4(NSD1):c.5182G>C (p.Ala1728Pro) rs1057520710
NM_022455.4(NSD1):c.5229G>A (p.Trp1743Ter) rs1554201740
NM_022455.4(NSD1):c.5309G>A (p.Trp1770Ter) rs587784142
NM_022455.4(NSD1):c.5502T>A (p.Tyr1834Ter) rs369086894
NM_022455.4(NSD1):c.5581C>T (p.Arg1861Ter) rs886041218
NM_022455.4(NSD1):c.5616_5617TA[1] (p.Ile1873fs) rs587784152
NM_022455.4(NSD1):c.5699del (p.Thr1900fs) rs1064793705
NM_022455.4(NSD1):c.5842C>T (p.Arg1948Cys) rs886041941
NM_022455.4(NSD1):c.5851C>T (p.Gln1951Ter) rs1554204165
NM_022455.4(NSD1):c.5854C>T (p.Arg1952Trp) rs886041219
NM_022455.4(NSD1):c.5862G>A (p.Trp1954Ter) rs587784160
NM_022455.4(NSD1):c.5892+1G>T rs886039579
NM_022455.4(NSD1):c.5892+1delG rs1064793361
NM_022455.4(NSD1):c.5898_5899insG (p.Phe1967fs) rs1554204587
NM_022455.4(NSD1):c.5943del (p.Glu1980_Cys1981insTer) rs886041734
NM_022455.4(NSD1):c.5951G>A (p.Arg1984Gln) rs587784169
NM_022455.4(NSD1):c.5951G>C (p.Arg1984Pro) rs587784169
NM_022455.4(NSD1):c.6010-14_6016del21insC rs1554204905
NM_022455.4(NSD1):c.6010-1G>A rs1057520620
NM_022455.4(NSD1):c.6013C>T (p.Arg2005Ter) rs587784173
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.6070C>T (p.Gln2024Ter) rs587784179
NM_022455.4(NSD1):c.6170A>G (p.Asn2057Ser) rs1554205939
NM_022455.4(NSD1):c.6349C>T (p.Arg2117Ter) rs587784190
NM_022455.4(NSD1):c.6421del (p.Val2141fs) rs587784197
NM_022455.4(NSD1):c.6454C>T (p.Arg2152Ter) rs587784199
NM_022455.4(NSD1):c.6463+5G>C rs1057518175
NM_022455.4(NSD1):c.8034del (p.Pro2679fs) rs1064794033

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