C0175695[trait identifier] AND "Genetic Services Laboratory, Universit - 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 +2 more	GConflicting classifications of pathogenicity
Select item 159259	NM_022455.5(NSD1):c.108A>G (p.Gln36=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	Sotos syndrome	GUncertain significance
Select item 159265	NM_022455.5(NSD1):c.142A>G (p.Met48Val)	NSD1 (M48V)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GConflicting classifications of pathogenicity
Select item 159308	NM_022455.5(NSD1):c.339C>T (p.Cys113=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	Sotos syndrome +2 more	GBenign/Likely benign
Select item 159309	NM_022455.5(NSD1):c.352C>G (p.Pro118Ala)	NSD1 (P118A)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 159317	NM_022455.5(NSD1):c.395G>C (p.Cys132Ser)	NSD1 (C132S)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome +2 more	GBenign/Likely benign
Select item 159441	NM_022455.5(NSD1):c.760C>T (p.Leu254Phe)	NSD1	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 159258	NM_022455.5(NSD1):c.1077del (p.Arg359fs)	NSD1 (R359fs +1 more)	Deletion (frameshift variant)	Sotos syndrome	GPathogenic
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 159261	NM_022455.5(NSD1):c.1224A>G (p.Gly408=)	NSD1	Single nucleotide variant (synonymous variant)	NSD1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 159262	NM_022455.5(NSD1):c.1237-10T>C	NSD1	Single nucleotide variant (intron variant)	Sotos syndrome	GUncertain significance
Select item 211717	NM_022455.5(NSD1):c.1264dup (p.Glu422fs)	NSD1 (E422fs +1 more)	Duplication (frameshift variant)	Sotos syndrome	GPathogenic
Select item 159263	NM_022455.5(NSD1):c.1262G>A (p.Trp421Ter)	NSD1 (W421* +4 more)	Single nucleotide variant (nonsense)	Sotos syndrome	GPathogenic
Select item 159264	NM_022455.5(NSD1):c.1428G>A (p.Leu476=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome	GUncertain significance
Select item 159266	NM_022455.5(NSD1):c.1456del (p.Ser486fs)	NSD1 (S217fs +1 more)	Deletion (frameshift variant)	Sotos syndrome	GPathogenic
Select item 159267	NM_022455.5(NSD1):c.1471G>A (p.Glu491Lys)	NSD1 (E491K +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
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 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)	Sotos syndrome +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)	Sotos syndrome +3 more	GBenign/Likely benign
Select item 96038	NM_022455.5(NSD1):c.1749G>A (p.Glu583=)	NSD1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1338666	NM_022455.5(NSD1):c.1768_1769del (p.Leu590fs)	NSD1 (L321fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 96040	NM_022455.5(NSD1):c.1792T>C (p.Leu598=)	NSD1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 211718	NM_022455.5(NSD1):c.1802dup (p.Cys602fs)	NSD1 (C602fs +1 more)	Duplication (frameshift variant)	Sotos syndrome	GPathogenic
Select item 159271	NM_022455.5(NSD1):c.1810C>T (p.Arg604Ter)	NSD1 (R604* +4 more)	Single nucleotide variant (nonsense)	Sotos syndrome +1 more	GPathogenic
Select item 159272	NM_022455.5(NSD1):c.1811G>T (p.Arg604Leu)	NSD1 (R604L +4 more)	Single nucleotide variant (missense variant)	not specified +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 specified +3 more	GBenign
Select item 159274	NM_022455.5(NSD1):c.1980C>T (p.Asn660=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome +3 more	GBenign/Likely benign
Select item 159275	NM_022455.5(NSD1):c.2014_2018del (p.Thr672fs)	NSD1 (T672fs +1 more)	Deletion (frameshift variant)	Sotos syndrome	GPathogenic
Select item 159276	NM_022455.5(NSD1):c.2048del (p.Lys683fs)	NSD1 (K414fs +1 more)	Deletion (frameshift variant)	Sotos syndrome	GPathogenic
Select item 159277	NM_022455.5(NSD1):c.2049_2053del (p.Ile684fs)	NSD1 (I415fs +1 more)	Deletion (frameshift variant)	Sotos syndrome	GPathogenic
Select item 159278	NM_022455.5(NSD1):c.2064del (p.Arg688fs)	NSD1 (R419fs +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 159280	NM_022455.5(NSD1):c.2124_2127del (p.His708fs)	NSD1 (H439fs +1 more)	Deletion (frameshift variant)	Sotos syndrome	GPathogenic
Select item 211720	NM_022455.5(NSD1):c.2167dup (p.Thr723fs)	NSD1 (T723fs +1 more)	Duplication (frameshift variant)	Sotos syndrome	GPathogenic
Select item 159281	NM_022455.5(NSD1):c.2169C>T (p.Thr723=)	NSD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +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)	not provided +3 more	GBenign
Select item 211721	NM_022455.5(NSD1):c.2190_2191delinsG (p.Ser731fs)	NSD1 (S462fs +1 more)	Indel (frameshift variant)	Sotos syndrome	GPathogenic
Select item 159283	NM_022455.5(NSD1):c.2276C>G (p.Ser759Ter)	NSD1 (S759* +4 more)	Single nucleotide variant (nonsense)	Sotos syndrome	GPathogenic
Select item 159285	NM_022455.5(NSD1):c.2295del (p.Ser766fs)	NSD1 (S497fs +1 more)	Deletion (frameshift variant)	Sotos syndrome	GPathogenic
Select item 159284	NM_022455.5(NSD1):c.2295C>T (p.Asn765=)	NSD1	Single nucleotide variant (synonymous variant)	not specified +4 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)	Sotos syndrome +4 more	GBenign/Likely benign
Select item 159286	NM_022455.5(NSD1):c.2339C>A (p.Ser780Ter)	NSD1 (S780* +4 more)	Single nucleotide variant (nonsense)	Sotos syndrome	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 specified +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)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 159288	NM_022455.5(NSD1):c.2639del (p.Gly880fs)	NSD1 (G880fs +1 more)	Deletion (frameshift variant)	Sotos syndrome	GPathogenic
Select item 159289	NM_022455.5(NSD1):c.2654C>A (p.Ser885Ter)	NSD1 (S885* +4 more)	Single nucleotide variant (nonsense)	Sotos syndrome	GPathogenic
Select item 159290	NM_022455.5(NSD1):c.2696T>C (p.Ile899Thr)	NSD1 (I899T +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1338653	NM_022455.5(NSD1):c.2808C>A (p.Tyr936Ter)	NSD1 (Y667* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 159291	NM_022455.5(NSD1):c.2827del (p.Asp943fs)	NSD1 (D943fs +1 more)	Deletion (frameshift variant)	Sotos syndrome	GPathogenic
Select item 96049	NM_022455.5(NSD1):c.2835T>C (p.Ser945=)	NSD1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 211722	NM_022455.5(NSD1):c.2859dup (p.Lys954Ter)	NSD1 (K685* +1 more)	Duplication (frameshift variant +1 more)	Sotos syndrome	GPathogenic
Select item 159292	NM_022455.5(NSD1):c.2925C>T (p.Ser975=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome	GUncertain significance
Select item 159294	NM_022455.5(NSD1):c.2954_2955del (p.Ser985fs)	NSD1 (S716fs +1 more)	Microsatellite (frameshift variant)	Sotos syndrome +3 more	GPathogenic
Select item 159295	NM_022455.5(NSD1):c.2956del (p.Ala986fs)	NSD1 (A986fs +1 more)	Deletion (frameshift variant)	Sotos syndrome	GPathogenic
Select item 159296	NM_022455.5(NSD1):c.3000C>T (p.Ser1000=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome +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 159297	NM_022455.5(NSD1):c.3046_3047del (p.Val1016fs)	NSD1 (V1016fs +1 more)	Microsatellite (frameshift variant)	Sotos syndrome	GPathogenic
Select item 159298	NM_022455.5(NSD1):c.3067C>T (p.Arg1023Ter)	NSD1 (R1023* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 159299	NM_022455.5(NSD1):c.3089T>C (p.Leu1030Ser)	NSD1 (L1030S +4 more)	Single nucleotide variant (missense variant)	not specified +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)	not specified +3 more	GBenign
Select item 211723	NM_022455.5(NSD1):c.3146dup (p.Thr1050fs)	NSD1 (T1050fs +1 more)	Duplication (frameshift variant)	Sotos syndrome	GPathogenic
Select item 159302	NM_022455.5(NSD1):c.3185_3186del (p.Val1062fs)	NSD1 (V793fs +1 more)	Microsatellite (frameshift variant)	Sotos syndrome	GPathogenic
Select item 96053	NM_022455.5(NSD1):c.3187A>G (p.Thr1063Ala)	NSD1 (T794A +3 more)	Single nucleotide variant (missense variant)	not provided +4 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 211724	NM_022455.5(NSD1):c.3260_3266del (p.Lys1087fs)	NSD1 (K1087fs +1 more)	Deletion (frameshift variant)	Sotos syndrome	GPathogenic
Select item 436062	NM_022455.5(NSD1):c.3267T>A (p.Asp1089Glu)	NSD1 (D1089E +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome +1 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 159305	NM_022455.5(NSD1):c.3293del (p.Thr1098fs)	NSD1 (T1098fs +1 more)	Deletion (frameshift variant)	Sotos syndrome	GPathogenic
Select item 159306	NM_022455.5(NSD1):c.3295del (p.Ser1099fs)	NSD1 (S1099fs +1 more)	Deletion (frameshift variant)	Sotos syndrome	GPathogenic
Select item 211725	NM_022455.5(NSD1):c.3316dup (p.Ser1106fs)	NSD1 (S837fs +1 more)	Duplication (frameshift variant)	Sotos syndrome	GPathogenic
Select item 159307	NM_022455.5(NSD1):c.3383_3384del (p.Ser1128fs)	NSD1 (S1128fs +1 more)	Microsatellite (frameshift variant)	Sotos syndrome	GPathogenic
Select item 96055	NM_022455.5(NSD1):c.3393C>T (p.Asn1131=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome +3 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 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 211727	NM_022455.5(NSD1):c.3578dup (p.Ser1193fs)	NSD1 (S924fs +1 more)	Duplication (frameshift variant)	Sotos syndrome	GPathogenic
Select item 159311	NM_022455.5(NSD1):c.3578_3582del (p.Ser1193fs)	NSD1 (S1193fs +1 more)	Deletion (frameshift variant)	Sotos syndrome	GPathogenic
Select item 159312	NM_022455.5(NSD1):c.3659_3660del (p.Glu1220fs)	NSD1 (E951fs +1 more)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic
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 159313	NM_022455.5(NSD1):c.3722G>C (p.Ser1241Thr)	NSD1 (S1241T +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign
Select item 159314	NM_022455.5(NSD1):c.3803G>A (p.Arg1268Gln)	NSD1 (R1268Q +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome +2 more	GBenign/Likely benign
Select item 159315	NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter)	NSD1 (W1280* +4 more)	Single nucleotide variant (nonsense)	Sotos syndrome +19 more	GPathogenic
Select item 436066	NM_022455.5(NSD1):c.3922-2_3925delinsG	NSD1	Indel (splice acceptor variant)	Sotos syndrome	GPathogenic
Select item 211728	NM_022455.5(NSD1):c.3939dup (p.Glu1314fs)	NSD1 (E1045fs +1 more)	Duplication (frameshift variant)	Sotos syndrome	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 159319	NM_022455.5(NSD1):c.3992A>G (p.Asp1331Gly)	NSD1 (D1331G +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 211729	NM_022455.5(NSD1):c.4020del (p.Glu1341fs)	NSD1 (E1072fs +1 more)	Deletion (frameshift variant)	Sotos syndrome	GPathogenic
Select item 159320	NM_022455.5(NSD1):c.4057G>T (p.Glu1353Ter)	NSD1 (E1353* +4 more)	Single nucleotide variant (nonsense)	Sotos syndrome	GPathogenic
Select item 159322	NM_022455.5(NSD1):c.4076C>G (p.Ser1359Ter)	NSD1 (S1359* +4 more)	Single nucleotide variant (nonsense)	Sotos syndrome	GPathogenic
Select item 159323	NM_022455.5(NSD1):c.4192+2T>G	NSD1	Single nucleotide variant (splice donor variant)	Sotos syndrome +1 more	GPathogenic
Select item 211730	NM_022455.5(NSD1):c.4282dup (p.Asp1428fs)	NSD1 (D1159fs +1 more)	Duplication (frameshift variant)	Sotos syndrome	GPathogenic
Select item 211731	NM_022455.5(NSD1):c.4301dup (p.Cys1435fs)	NSD1 (C1435fs +1 more)	Duplication (frameshift variant)	Sotos syndrome	GPathogenic
Select item 159324	NM_022455.5(NSD1):c.4301del (p.Lys1434fs)	NSD1 (K1165fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 159325	NM_022455.5(NSD1):c.4328A>G (p.Asn1443Ser)	NSD1 (N1443S +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome +1 more	GConflicting classifications of pathogenicity

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