ClinVar for MedGen (Select 61232) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4294519	NM_022455.5(NSD1):c.6463+1G>C	NSD1	Single nucleotide variant (splice donor variant)	Sotos syndrome	GLikely pathogenic
Select item 4294497	NM_022455.5(NSD1):c.2609_2610del (p.Arg870fs)	NSD1 (R619fs +3 more)	Deletion (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 4293795	NM_022455.5(NSD1):c.3551_3554del (p.Glu1184fs)	NSD1 (E1044fs +3 more)	Deletion (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 4293402	NM_022455.5(NSD1):c.4478_4479del (p.Lys1493fs)	NSD1 (K1202fs +3 more)	Deletion (frameshift variant)	Sotos syndrome	GPathogenic
Select item 4292886	NM_022455.5(NSD1):c.5177C>T (p.Pro1726Leu)	NSD1 (P1435L +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely pathogenic
Select item 4292824	NM_022455.5(NSD1):c.5480del (p.Gly1827fs)	LOC126807619, NSD1 (G1536fs +4 more)	Deletion (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 4292709	NM_022455.5(NSD1):c.2385dup (p.Glu796fs)	NSD1 (E505fs +3 more)	Duplication (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 4292446	NM_022455.5(NSD1):c.4378+549A>G	NSD1	Single nucleotide variant (intron variant)	Sotos syndrome	GUncertain significance
Select item 4292276	NM_022455.5(NSD1):c.3921+5G>C	NSD1	Single nucleotide variant (intron variant)	Sotos syndrome	GUncertain significance
Select item 4292161	NM_022455.5(NSD1):c.4931A>C (p.His1644Pro)	NSD1 (H1353P +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 4292121	NM_022455.5(NSD1):c.4379-12_4387del	NSD1	Deletion (splice acceptor variant)	Sotos syndrome	GLikely pathogenic
Select item 4280620	NM_022455.5(NSD1):c.3593del (p.Glu1198fs)	NSD1 (E1058fs +3 more)	Deletion (frameshift variant)	Sotos syndrome	GPathogenic
Select item 4279852	NM_022455.5(NSD1):c.2903del (p.Lys968fs)	NSD1 (K677fs +3 more)	Deletion (frameshift variant)	Sotos syndrome	GPathogenic
Select item 4278215	NM_022455.5(NSD1):c.8084A>C (p.Gln2695Pro)	NSD1 (Q2321P +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 4277251	NM_022455.5(NSD1):c.7710del (p.Ser2571fs)	NSD1 (S2197fs +5 more)	Deletion (frameshift variant)	Sotos syndrome	GUncertain significance
Select item 4082024	NM_022455.5(NSD1):c.1310C>A (p.Ser437Ter)	NSD1 (S146* +3 more)	Single nucleotide variant (nonsense)	Sotos syndrome	GPathogenic
Select item 4081867	NM_022455.5(NSD1):c.4672del (p.Cys1558fs)	NSD1 (C1267fs +3 more)	Deletion (frameshift variant)	Sotos syndrome	GPathogenic
Select item 4079461	NM_022455.5(NSD1):c.3545A>G (p.Asn1182Ser)	NSD1 (N1042S +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 4079460	NM_022455.5(NSD1):c.5455G>A (p.Asp1819Asn)	LOC126807619, NSD1 (D1528N +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 4079459	NM_022455.5(NSD1):c.1493G>A (p.Arg498Gln)	NSD1 (R207Q +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 4079458	NM_022455.5(NSD1):c.1015T>C (p.Cys339Arg)	NSD1 (C199R +2 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 4056683	NM_022455.5(NSD1):c.7157T>C (p.Leu2386Pro)	NSD1 (L2012P +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 4056682	NM_022455.5(NSD1):c.5580C>A (p.Asp1860Glu)	NSD1 (D1569E +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 4056681	NM_022455.5(NSD1):c.4882dup (p.Met1628fs)	NSD1 (M1337fs +4 more)	Duplication (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 4056680	NM_022455.5(NSD1):c.3151G>T (p.Glu1051Ter)	NSD1 (E1051* +3 more)	Single nucleotide variant (nonsense)	Sotos syndrome	GLikely pathogenic
Select item 4056678	NM_022455.5(NSD1):c.1237G>T (p.Val413Phe)	NSD1 (V122F +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3897793	NM_022455.5(NSD1):c.5792_5806del (p.Cys1931_Cys1935del)	NSD1	Deletion	Sotos syndrome	GLikely pathogenic
Select item 3897788	NM_022455.5(NSD1):c.4903T>G (p.Cys1635Gly)	NSD1 (C1344G +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely pathogenic
Select item 3897767	NM_022455.5(NSD1):c.5896G>T (p.Glu1966Ter)	NSD1 (E1675* +4 more)	Single nucleotide variant (nonsense)	Sotos syndrome	GLikely pathogenic
Select item 3897601	NM_022455.5(NSD1):c.248del (p.Asn83fs)	NSD1 (N83fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3891861	NM_022455.5(NSD1):c.4493C>T (p.Ser1498Leu)	NSD1 (S1247L +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3777146	NM_022455.5(NSD1):c.5026del (p.Ala1676fs)	NSD1 (A1385fs +4 more)	Deletion (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 3776023	NM_022455.5(NSD1):c.6332_6341del (p.Gly2111fs)	NSD1 (G1737fs +5 more)	Deletion (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 3775543	NM_022455.5(NSD1):c.3141del (p.Ala1047_Leu1048insTer)	NSD1	Deletion (frameshift variant)	Sotos syndrome	GPathogenic
Select item 3768593	NM_022455.5(NSD1):c.5918G>A (p.Gly1973Asp)	NSD1 (G1682D +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely pathogenic
Select item 3766834	NM_022455.5(NSD1):c.5510-13T>A	NSD1	Single nucleotide variant (intron variant)	Sotos syndrome	GLikely benign
Select item 3766576	NM_022455.5(NSD1):c.3345_3348del (p.Lys1115fs)	NSD1 (K1115fs +3 more)	Deletion (frameshift variant)	Sotos syndrome	GPathogenic
Select item 3765495	NM_022455.5(NSD1):c.5823T>A (p.Tyr1941Ter)	NSD1 (Y1650* +4 more)	Single nucleotide variant (nonsense)	Sotos syndrome	GPathogenic
Select item 3764571	NM_022455.5(NSD1):c.2362del (p.Arg788fs)	NSD1 (R497fs +3 more)	Deletion (frameshift variant)	Sotos syndrome	GPathogenic
Select item 3637592	NM_022455.5(NSD1):c.20T>C (p.Leu7Pro)	NSD1 (L7P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3602586	NM_022455.5(NSD1):c.6058A>C (p.Asn2020His)	NSD1 (N1729H +4 more)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GLikely pathogenic
Select item 3602185	NM_022455.5(NSD1):c.5126G>A (p.Trp1709Ter)	NSD1 (W1418* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 3601979	NM_022455.5(NSD1):c.6014G>C (p.Arg2005Pro)	NSD1 (R1714P +4 more)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GPathogenic
Select item 3600343	NM_022455.5(NSD1):c.4358dup (p.Tyr1453Ter)	NSD1 (Y1162* +3 more)	Duplication (nonsense)	Sotos syndrome	GLikely pathogenic
Select item 3592090	NM_022455.5(NSD1):c.8066A>G (p.Lys2689Arg)	NSD1 (K2398R +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3592089	NM_022455.5(NSD1):c.7949G>C (p.Trp2650Ser)	NSD1 (W2276S +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3592087	NM_022455.5(NSD1):c.7942T>A (p.Ser2648Thr)	NSD1 (S2397T +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3592086	NM_022455.5(NSD1):c.7933_7971del (p.Ser2648_Gln2660del)	NSD1	Deletion	Sotos syndrome	GUncertain significance
Select item 3592085	NM_022455.5(NSD1):c.7925G>C (p.Gly2642Ala)	NSD1 (G2388A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3592084	NM_022455.5(NSD1):c.7904G>A (p.Gly2635Glu)	NSD1 (G2381E +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3592083	NM_022455.5(NSD1):c.7885A>G (p.Lys2629Glu)	NSD1 (K2338E +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3592082	NM_022455.5(NSD1):c.7808_7809del (p.Leu2603fs)	NSD1 (L2352fs +5 more)	Microsatellite (frameshift variant)	Sotos syndrome +1 more	GUncertain significance
Select item 3592081	NM_022455.5(NSD1):c.7802G>A (p.Arg2601Lys)	NSD1 (R2227K +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3592080	NM_022455.5(NSD1):c.7720C>G (p.Pro2574Ala)	NSD1 (P2574A +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3592079	NM_022455.5(NSD1):c.7712G>A (p.Ser2571Asn)	NSD1 (S2317N +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3592078	NM_022455.5(NSD1):c.7611A>T (p.Arg2537Ser)	NSD1 (R2537S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 3592077	NM_022455.5(NSD1):c.7585G>C (p.Ala2529Pro)	NSD1 (A2529P +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3592076	NM_022455.5(NSD1):c.7570G>A (p.Glu2524Lys)	NSD1 (E2384K +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3592075	NM_022455.5(NSD1):c.7546T>C (p.Ser2516Pro)	NSD1 (S2142P +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3592074	NM_022455.5(NSD1):c.7373T>C (p.Leu2458Pro)	NSD1 (L2084P +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3592072	NM_022455.5(NSD1):c.7300G>A (p.Ala2434Thr)	NSD1 (A2180T +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3592071	NM_022455.5(NSD1):c.7249A>G (p.Arg2417Gly)	NSD1 (R2277G +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3592070	NM_022455.5(NSD1):c.7023C>T (p.Ser2341=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome	GUncertain significance
Select item 3592069	NM_022455.5(NSD1):c.6927G>A (p.Leu2309=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome	GUncertain significance
Select item 3592068	NM_022455.5(NSD1):c.6895C>G (p.Leu2299Val)	NSD1 (L2159V +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3592067	NM_022455.5(NSD1):c.6803C>T (p.Ala2268Val)	NSD1 (A1977V +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3592066	NM_022455.5(NSD1):c.6796A>G (p.Lys2266Glu)	NSD1 (K2266E +6 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3592065	NM_022455.5(NSD1):c.6766G>T (p.Ala2256Ser)	NSD1 (A1965S +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3592064	NM_022455.5(NSD1):c.6744C>T (p.Pro2248=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome	GLikely benign
Select item 3592063	NM_022455.5(NSD1):c.6697A>G (p.Ser2233Gly)	NSD1 (S1942G +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3592062	NM_022455.5(NSD1):c.6528G>A (p.Glu2176=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome	GUncertain significance
Select item 3592061	NM_022455.5(NSD1):c.6391G>A (p.Val2131Ile)	NSD1 (V1877I +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3592060	NM_022455.5(NSD1):c.6390C>T (p.Leu2130=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3592059	NM_022455.5(NSD1):c.6268A>G (p.Ile2090Val)	NSD1 (I1836V +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3592058	NM_022455.5(NSD1):c.6259-6C>A	NSD1	Single nucleotide variant (intron variant)	Sotos syndrome	GUncertain significance
Select item 3592056	NM_022455.5(NSD1):c.6139G>T (p.Asp2047Tyr)	NSD1 (D1756Y +4 more)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GUncertain significance
Select item 3592055	NM_022455.5(NSD1):c.5782G>A (p.Gly1928Arg)	NSD1 (G1637R +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3592054	NM_022455.5(NSD1):c.5732_5733delinsAA (p.Cys1911Ter)	NSD1 (C1657* +4 more)	Indel (nonsense)	Sotos syndrome	GLikely pathogenic
Select item 3592053	NM_022455.5(NSD1):c.5622+20G>C	NSD1	Single nucleotide variant (intron variant)	Sotos syndrome	GUncertain significance
Select item 3592052	NM_022455.5(NSD1):c.5521G>A (p.Ala1841Thr)	NSD1 (A1590T +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3592051	NM_022455.5(NSD1):c.5357A>G (p.Lys1786Arg)	LOC126807619, NSD1 (K1532R +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3592050	NM_022455.5(NSD1):c.5038A>G (p.Lys1680Glu)	NSD1 (K1426E +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3592049	NM_022455.5(NSD1):c.4882A>G (p.Met1628Val)	NSD1 (M1337V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3592048	NM_022455.5(NSD1):c.4853A>C (p.Glu1618Ala)	NSD1 (E1364A +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3592047	NM_022455.5(NSD1):c.4846C>G (p.His1616Asp)	NSD1 (H1362D +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3592046	NM_022455.5(NSD1):c.4801G>A (p.Glu1601Lys)	NSD1 (E1601K +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3592045	NM_022455.5(NSD1):c.4570G>A (p.Gly1524Arg)	NSD1 (G1233R +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3592044	NM_022455.5(NSD1):c.4557A>G (p.Val1519=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome	GUncertain significance
Select item 3592042	NM_022455.5(NSD1):c.4487C>G (p.Pro1496Arg)	NSD1 (P1496R +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3592041	NM_022455.5(NSD1):c.4450A>G (p.Lys1484Glu)	NSD1 (K1193E +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3592040	NM_022455.5(NSD1):c.4424G>A (p.Arg1475Lys)	NSD1 (R1224K +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3592039	NM_022455.5(NSD1):c.4418G>A (p.Arg1473Gln)	NSD1 (R1222Q +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely benign
Select item 3592038	NM_022455.5(NSD1):c.4394T>C (p.Phe1465Ser)	NSD1 (F1465S +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3592037	NM_022455.5(NSD1):c.4346G>C (p.Cys1449Ser)	NSD1 (C1158S +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3592036	NM_022455.5(NSD1):c.4343C>A (p.Ser1448Tyr)	NSD1 (S1157Y +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome +1 more	GUncertain significance
Select item 3592035	NM_022455.5(NSD1):c.4119G>T (p.Leu1373Phe)	NSD1 (L1082F +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3592034	NM_022455.5(NSD1):c.3932G>T (p.Arg1311Leu)	NSD1 (R1171L +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3592033	NM_022455.5(NSD1):c.3865G>A (p.Asp1289Asn)	NSD1 (D998N +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3592032	NM_022455.5(NSD1):c.3802C>T (p.Arg1268Trp)	NSD1 (R1268W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3592031	NM_022455.5(NSD1):c.3722G>T (p.Ser1241Ile)	NSD1 (S950I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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