"Genome-Nilou Lab"[submitter] AND "NSD1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 211715	NM_022455.5(NSD1):c.-8G>A	NSD1	Single nucleotide variant (5 prime UTR variant)	Sotos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 379167	NM_022455.5(NSD1):c.34T>C (p.Cys12Arg)	NSD1 (C12R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 252792	NM_022455.5(NSD1):c.72C>T (p.Ala24=)	NSD1 (P2L)	Single nucleotide variant (5 prime UTR variant +1 more)	Sotos syndrome +3 more	GConflicting classifications of pathogenicity
Select item 454045	NM_022455.5(NSD1):c.241A>G (p.Met81Val)	NSD1 (M81V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 159308	NM_022455.5(NSD1):c.339C>T (p.Cys113=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 589178	NM_022455.5(NSD1):c.436A>G (p.Ile146Val)	NSD1 (I146V)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome +1 more	GBenign/Likely benign
Select item 261588	NM_022455.5(NSD1):c.480C>T (p.Asp160=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	Sotos syndrome +3 more	GBenign/Likely benign
Select item 524742	NM_022455.5(NSD1):c.639C>T (p.Ser213=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 587866	NM_022455.5(NSD1):c.682C>G (p.Pro228Ala)	NSD1 (P228A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 235296	NM_022455.5(NSD1):c.708G>C (p.Gln236His)	NSD1 (Q236H)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome +1 more	GBenign/Likely benign
Select item 159441	NM_022455.5(NSD1):c.760C>T (p.Leu254Phe)	NSD1	Single nucleotide variant (missense variant +1 more)	Sotos syndrome +3 more	GBenign/Likely benign
Select item 452876	NM_022455.5(NSD1):c.805G>A (p.Glu269Lys)	NSD1 (E269K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 524694	NM_022455.5(NSD1):c.816C>A (p.Asn272Lys)	NSD1 (N272K)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GConflicting classifications of pathogenicity
Select item 588408	NM_022455.5(NSD1):c.1064-5C>A	NSD1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 159260	NM_022455.5(NSD1):c.1149C>T (p.Ile383=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome +3 more	GConflicting classifications of pathogenicity
Select item 261581	NM_022455.5(NSD1):c.1317C>T (p.Asn439=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome +2 more	GBenign
Select item 96034	NM_022455.5(NSD1):c.1364T>C (p.Met455Thr)	NSD1 (M186T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 454042	NM_022455.5(NSD1):c.1477C>G (p.Pro493Ala)	NSD1 (P493A +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 524708	NM_022455.5(NSD1):c.1478C>T (p.Pro493Leu)	NSD1 (P493L +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 96035	NM_022455.5(NSD1):c.1482C>T (p.Cys494=)	NSD1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 454043	NM_022455.5(NSD1):c.1483G>A (p.Ala495Thr)	NSD1 (A495T +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely benign
Select item 646362	NM_022455.5(NSD1):c.1492C>T (p.Arg498Ter)	NSD1 (R498* +4 more)	Single nucleotide variant (nonsense)	Sotos syndrome +1 more	GPathogenic
Select item 159268	NM_022455.5(NSD1):c.1495G>A (p.Ala499Thr)	NSD1 (A499T +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome +3 more	GBenign/Likely benign
Select item 96036	NM_022455.5(NSD1):c.1515T>C (p.Asn505=)	NSD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 159269	NM_022455.5(NSD1):c.1558G>A (p.Ala520Thr)	NSD1 (A520T +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 516289	NM_022455.5(NSD1):c.1574G>A (p.Arg525Gln)	NSD1 (R525Q +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 96037	NM_022455.5(NSD1):c.1666A>G (p.Asn556Asp)	NSD1 (N287D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 159270	NM_022455.5(NSD1):c.1690G>T (p.Ala564Ser)	NSD1 (A564S +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 96038	NM_022455.5(NSD1):c.1749G>A (p.Glu583=)	NSD1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 96040	NM_022455.5(NSD1):c.1792T>C (p.Leu598=)	NSD1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 159271	NM_022455.5(NSD1):c.1810C>T (p.Arg604Ter)	NSD1 (R604* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 159272	NM_022455.5(NSD1):c.1811G>T (p.Arg604Leu)	NSD1 (R604L +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome +2 more	GBenign
Select item 159273	NM_022455.5(NSD1):c.1831C>T (p.Arg611Ter)	NSD1 (R611* +4 more)	Single nucleotide variant (nonsense)	Sotos syndrome +1 more	GPathogenic
Select item 96042	NM_022455.5(NSD1):c.1840G>T (p.Val614Leu)	NSD1 (V345L +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 159274	NM_022455.5(NSD1):c.1980C>T (p.Asn660=)	NSD1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 524683	NM_022455.5(NSD1):c.2008G>A (p.Asp670Asn)	NSD1 (D670N +4 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +1 more	GUncertain significance
Select item 378303	NM_022455.5(NSD1):c.2031T>G (p.Ser677=)	NSD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 963233	NM_022455.5(NSD1):c.2032A>G (p.Met678Val)	NSD1 (M409V +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 159277	NM_022455.5(NSD1):c.2049_2053del (p.Ile684fs)	NSD1 (I415fs +1 more)	Deletion (frameshift variant)	Sotos syndrome	GPathogenic
Select item 159279	NM_022455.5(NSD1):c.2071G>A (p.Ala691Thr)	NSD1 (A691T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign
Select item 159281	NM_022455.5(NSD1):c.2169C>T (p.Thr723=)	NSD1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 96043	NM_022455.5(NSD1):c.2176T>C (p.Ser726Pro)	NSD1 (S457P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign
Select item 159284	NM_022455.5(NSD1):c.2295C>T (p.Asn765=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome +3 more	GBenign/Likely benign
Select item 241432	NM_022455.5(NSD1):c.2339C>T (p.Ser780Leu)	NSD1 (S780L +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 96045	NM_022455.5(NSD1):c.2350C>G (p.Gln784Glu)	NSD1 (Q515E +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 378304	NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter)	NSD1 (R788* +4 more)	Single nucleotide variant (nonsense)	Sotos syndrome +2 more	GPathogenic
Select item 159287	NM_022455.5(NSD1):c.2386_2389del (p.Glu796fs)	NSD1 (E527fs)	Deletion (frameshift variant)	Sotos syndrome +1 more	GPathogenic
Select item 96046	NM_022455.5(NSD1):c.2399T>C (p.Met800Thr)	NSD1 (M531T +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 96047	NM_022455.5(NSD1):c.2450C>T (p.Ser817Phe)	NSD1 (S548F +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 436060	NM_022455.5(NSD1):c.2465C>G (p.Ser822Cys)	NSD1 (S822C +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 430048	NM_022455.5(NSD1):c.2672_2676del (p.Ser891fs)	NSD1 (S891fs +1 more)	Deletion (frameshift variant)	Sotos syndrome +2 more	GPathogenic
Select item 159290	NM_022455.5(NSD1):c.2696T>C (p.Ile899Thr)	NSD1 (I899T +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 419698	NM_022455.5(NSD1):c.2760_2763del (p.Ser920fs)	NSD1 (S651fs +1 more)	Deletion (frameshift variant)	Sotos syndrome +2 more	GPathogenic
Select item 96049	NM_022455.5(NSD1):c.2835T>C (p.Ser945=)	NSD1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 159294	NM_022455.5(NSD1):c.2954_2955del (p.Ser985fs)	NSD1 (S716fs +1 more)	Microsatellite (frameshift variant)	not provided +3 more	GPathogenic
Select item 588555	NM_022455.5(NSD1):c.2968G>A (p.Glu990Lys)	NSD1 (E990K +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 159296	NM_022455.5(NSD1):c.3000C>T (p.Ser1000=)	NSD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 436061	NM_022455.5(NSD1):c.3004_3005del (p.Lys1002fs)	NSD1 (K733fs)	Deletion (frameshift variant)	Sotos syndrome +1 more	GPathogenic
Select item 1167208	NM_022455.5(NSD1):c.3021T>C (p.Ala1007=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome +2 more	GBenign/Likely benign
Select item 1199073	NM_022455.5(NSD1):c.3056G>A (p.Arg1019His)	NSD1 (R1019H +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 159298	NM_022455.5(NSD1):c.3067C>T (p.Arg1023Ter)	NSD1 (R1023* +4 more)	Single nucleotide variant (nonsense)	Sotos syndrome +1 more	GPathogenic
Select item 96051	NM_022455.5(NSD1):c.3088T>C (p.Leu1030=)	NSD1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 159299	NM_022455.5(NSD1):c.3089T>C (p.Leu1030Ser)	NSD1 (L1030S +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 159300	NM_022455.5(NSD1):c.3091C>T (p.Arg1031Ter)	NSD1 (R1031* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 159301	NM_022455.5(NSD1):c.3106G>C (p.Ala1036Pro)	NSD1 (A767P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign
Select item 96052	NM_022455.5(NSD1):c.3150C>T (p.Thr1050=)	NSD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 96053	NM_022455.5(NSD1):c.3187A>G (p.Thr1063Ala)	NSD1 (T794A +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 159303	NM_022455.5(NSD1):c.3214C>T (p.Arg1072Ter)	NSD1 (R1072* +4 more)	Single nucleotide variant (nonsense)	Sotos syndrome +1 more	GPathogenic
Select item 449587	NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln)	NSD1 (R1072Q +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 159304	NM_022455.5(NSD1):c.3271C>A (p.Leu1091Ile)	NSD1 (L1091I +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome +1 more	GBenign/Likely benign
Select item 454046	NM_022455.5(NSD1):c.3286C>T (p.His1096Tyr)	NSD1 (H1096Y +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 261584	NM_022455.5(NSD1):c.3330C>T (p.Phe1110=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome +3 more	GBenign/Likely benign
Select item 454047	NM_022455.5(NSD1):c.3352G>A (p.Asp1118Asn)	NSD1 (D1118N +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome +1 more	GUncertain significance
Select item 159307	NM_022455.5(NSD1):c.3383_3384del (p.Ser1128fs)	NSD1 (S1128fs +1 more)	Microsatellite (frameshift variant)	Sotos syndrome	GPathogenic
Select item 96054	NM_022455.5(NSD1):c.3389A>G (p.Glu1130Gly)	NSD1 (E861G +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome +3 more	GConflicting classifications of pathogenicity
Select item 96055	NM_022455.5(NSD1):c.3393C>T (p.Asn1131=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 197851	NM_022455.5(NSD1):c.3394G>A (p.Gly1132Arg)	NSD1 (G1132R +4 more)	Single nucleotide variant (missense variant)	Weaver syndrome +2 more	GConflicting classifications of pathogenicity
Select item 703196	NM_022455.5(NSD1):c.3500G>A (p.Arg1167His)	NSD1 (R1167H +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 383012	NM_022455.5(NSD1):c.3512G>A (p.Arg1171His)	NSD1 (R1171H +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 211726	NM_022455.5(NSD1):c.3549dup (p.Glu1184Ter)	NSD1 (E1184* +1 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 197855	NM_022455.5(NSD1):c.3556_3557delinsAT (p.Ala1186Ile)	NSD1 (A1186I +4 more)	Indel (missense variant)	Beckwith-Wiedemann syndrome +2 more	GUncertain significance
Select item 159310	NM_022455.5(NSD1):c.3564G>C (p.Arg1188Ser)	NSD1 (R1188S +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome +3 more	GBenign/Likely benign
Select item 159312	NM_022455.5(NSD1):c.3659_3660del (p.Glu1220fs)	NSD1 (E951fs +1 more)	Microsatellite (frameshift variant)	Sotos syndrome +2 more	GPathogenic
Select item 871929	NM_022455.5(NSD1):c.3692G>A (p.Gly1231Glu)	NSD1 (G1231E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 289217	NM_022455.5(NSD1):c.3697C>T (p.Arg1233Trp)	NSD1 (R1233W +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome +1 more	GUncertain significance
Select item 96057	NM_022455.5(NSD1):c.3705T>C (p.Asn1235=)	NSD1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 159314	NM_022455.5(NSD1):c.3803G>A (p.Arg1268Gln)	NSD1 (R1268Q +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome +1 more	GBenign/Likely benign
Select item 159315	NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter)	NSD1 (W1280* +4 more)	Single nucleotide variant (nonsense)	Autism +19 more	GPathogenic
Select item 4143	NM_022455.5(NSD1):c.3958C>T (p.Arg1320Ter)	NSD1 (R1320* +4 more)	Single nucleotide variant (nonsense)	Sotos syndrome +1 more	GPathogenic
Select item 159318	NM_022455.5(NSD1):c.3964C>T (p.Arg1322Ter)	NSD1 (R1322* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1033596	NM_022455.5(NSD1):c.3965G>C (p.Arg1322Pro)	NSD1 (R1322P +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GConflicting classifications of pathogenicity
Select item 352887	NM_022455.5(NSD1):c.4187C>T (p.Thr1396Met)	NSD1 (T1396M +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 159323	NM_022455.5(NSD1):c.4192+2T>G	NSD1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 198903	NM_022455.5(NSD1):c.4217_4220del (p.Arg1406fs)	NSD1 (R1137fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 159324	NM_022455.5(NSD1):c.4301del (p.Lys1434fs)	NSD1 (K1165fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 199166	NM_022455.5(NSD1):c.4303-4A>G	NSD1	Single nucleotide variant (intron variant)	Sotos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 352888	NM_022455.5(NSD1):c.4307A>G (p.Tyr1436Cys)	NSD1 (Y1436C +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 565696	NM_022455.5(NSD1):c.4378+3_4378+6del	NSD1	Deletion (splice donor variant)	Sotos syndrome +1 more	GPathogenic/Likely pathogenic
Select item 159328	NM_022455.5(NSD1):c.4378+1G>A	NSD1	Single nucleotide variant (splice donor variant)	Sotos syndrome +1 more	GPathogenic/Likely pathogenic
Select item 261587	NM_022455.5(NSD1):c.4378+26C>T	NSD1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign

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