Related gene-specific medical variations for Gene (Select 64324) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376857	NM_022455.5(NSD1):c.5456A>G (p.Asp1819Gly)	LOC126807619, NSD1 (D1528G +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely pathogenic
Select item 3367604	NM_022455.5(NSD1):c.5423A>T (p.His1808Leu)	LOC126807619, NSD1 (H1517L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362556	NM_022455.5(NSD1):c.1893del (p.Lys631fs)	NSD1 (K340fs +3 more)	Deletion (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 3362553	NM_022455.5(NSD1):c.7959del (p.Ser2654fs)	NSD1 (S2280fs +5 more)	Deletion (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 3361350	NM_022455.5(NSD1):c.3374A>G (p.Lys1125Arg)	NSD1 (K1125R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361170	NM_022455.5(NSD1):c.6350G>C (p.Arg2117Pro)	NSD1 (R1743P +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360399	NM_022455.5(NSD1):c.4213C>G (p.Gln1405Glu)	NSD1 (Q1114E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359880	NM_022455.5(NSD1):c.7492G>A (p.Gly2498Arg)	NSD1 (G2124R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359690	NM_022455.5(NSD1):c.1508C>T (p.Ser503Phe)	NSD1 (S212F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359265	NM_022455.5(NSD1):c.692C>T (p.Pro231Leu)	NSD1 (P231L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3237461	NM_022455.5(NSD1):c.4096_4097dup (p.Glu1367fs)	NSD1 (E1076fs +3 more)	Duplication (frameshift variant)	Sotos syndrome	GPathogenic
Select item 3202272	NM_022455.5(NSD1):c.5465G>A (p.Ser1822Asn)	LOC126807619, NSD1 (S1571N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067829	NM_022455.5(NSD1):c.5503A>G (p.Lys1835Glu)	LOC126807619, NSD1 (K1544E +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3065835	NM_022455.5(NSD1):c.1925C>A (p.Ser642Tyr)	NSD1 (S351Y +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3065271	NM_022455.5(NSD1):c.3815A>T (p.Lys1272Ile)	NSD1 (K1021I +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely benign
Select item 3065221	NM_022455.5(NSD1):c.2466_2467del (p.Pro823fs)	NSD1 (P532fs +3 more)	Microsatellite (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 3064436	NM_022455.5(NSD1):c.1286A>G (p.Glu429Gly)	NSD1 (E138G +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3064159	NM_022455.5(NSD1):c.2323C>T (p.Gln775Ter)	NSD1 (Q484* +3 more)	Single nucleotide variant (nonsense)	Sotos syndrome	GPathogenic
Select item 3062836	GRCh37/hg19 5q35.3(chr5:176693044-176709760)x1	NSD1	Copy number loss	not specified	GPathogenic
Select item 3062273	NM_022455.5(NSD1):c.4139_4140dup (p.Val1381fs)	NSD1 (V1090fs +3 more)	Duplication (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 2689617	NM_022455.5(NSD1):c.3578G>A (p.Ser1193Asn)	NSD1 (S1053N +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 2689616	NM_022455.5(NSD1):c.2308G>A (p.Gly770Ser)	NSD1 (G479S +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 2689615	NM_022455.5(NSD1):c.2800G>A (p.Val934Ile)	NSD1 (V643I +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 2637907	NM_022455.5(NSD1):c.4823dup (p.Pro1609fs)	NSD1 (P1318fs +4 more)	Duplication (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 2627905	NM_022455.5(NSD1):c.5304-2A>G	LOC126807619, NSD1	Single nucleotide variant (splice acceptor variant)	Sotos syndrome	GPathogenic
Select item 2584511	NM_022455.5(NSD1):c.5374G>A (p.Gly1792Arg)	LOC126807619, NSD1 (G1501R +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely pathogenic
Select item 2584337	NM_022455.5(NSD1):c.5359A>G (p.Met1787Val)	LOC126807619, NSD1 (M1496V +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GPathogenic
Select item 2582645	NM_022455.5(NSD1):c.5710C>T (p.Pro1904Ser)	NSD1 (P1613S +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely pathogenic
Select item 2582330	NM_022455.5(NSD1):c.5907_5908insA (p.Glu1970fs)	NSD1 (E1679fs +4 more)	Insertion (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 2579146	NM_022455.5(NSD1):c.4766-2A>C	NSD1	Single nucleotide variant (splice acceptor variant)	Sotos syndrome	GUncertain significance
Select item 2574132	NM_022455.5(NSD1):c.5390_5397dup (p.Gly1800fs)	LOC126807619, NSD1 (G1509fs +4 more)	Duplication (frameshift variant)	Sotos syndrome	GPathogenic
Select item 2503421	NM_022455.5(NSD1):c.3774delinsCAGCTCACC (p.Gln1259fs)	NSD1 (Q1008fs +3 more)	Indel (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 2441643	NM_022455.5(NSD1):c.6029G>T (p.Gly2010Val)	NSD1 (G1719V +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely pathogenic
Select item 2434443	NM_022455.5(NSD1):c.1843T>G (p.Cys615Gly)	NSD1 (C324G +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 2434442	NM_022455.5(NSD1):c.7675G>A (p.Ala2559Thr)	NSD1 (A2185T +6 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 2434441	NM_022455.5(NSD1):c.1249A>T (p.Ile417Phe)	NSD1 (I126F +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 2434440	NM_022455.5(NSD1):c.1760G>C (p.Gly587Ala)	NSD1 (G296A +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 2434439	NM_022455.5(NSD1):c.6733G>A (p.Ala2245Thr)	NSD1 (A1871T +6 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 2429385	NM_022455.5(NSD1):c.3383del (p.Ser1128fs)	NSD1 (S1128fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2081125	NM_022455.5(NSD1):c.5502T>C (p.Tyr1834=)	LOC126807619, NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome	GLikely benign
Select item 1992312	NM_022455.5(NSD1):c.6179T>A (p.Leu2060Gln)	NSD1 (L1809Q +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely pathogenic
Select item 1809719	NM_022455.5(NSD1):c.3541_3544del (p.Glu1181fs)	NSD1 (E1181fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1747121	NM_022455.5(NSD1):c.5376A>G (p.Gly1792=)	LOC126807619, NSD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1746717	NM_022455.5(NSD1):c.5304-5C>T	LOC126807619, NSD1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1708352	NM_022455.5(NSD1):c.5307G>A (p.Trp1769Ter)	LOC126807619, NSD1 (W1478* +5 more)	Single nucleotide variant (nonsense)	See cases	GPathogenic
Select item 1706120	NM_022455.5(NSD1):c.5312C>A (p.Pro1771Gln)	LOC126807619, NSD1 (P1480Q +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700924	NM_022455.5(NSD1):c.5422C>T (p.His1808Tyr)	LOC126807619, NSD1 (H1539Y +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700226	NM_022455.5(NSD1):c.5758T>C (p.Cys1920Arg)	NSD1 (C1651R +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely pathogenic
Select item 1696638	NM_022455.5(NSD1):c.3438T>G (p.Asp1146Glu)	NSD1 (D1146E +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 1696474	NM_022455.4:c.928-10312_3797-10414del	NSD1	Deletion	Sotos syndrome	GLikely pathogenic
Select item 1679637	NM_022455.5(NSD1):c.2267A>T (p.Asn756Ile)	NSD1 (N487I +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 1508690	NM_022455.5(NSD1):c.5420C>T (p.Thr1807Ile)	LOC126807619, NSD1 (T1807I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1459954	NM_022455.5(NSD1):c.5321T>A (p.Ile1774Asn)	LOC126807619, NSD1 (I1505N +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GPathogenic
Select item 1371530	NM_022455.5(NSD1):c.5408A>G (p.Asp1803Gly)	LOC126807619, NSD1 (D1803G +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 1342600	NM_022455.5(NSD1):c.1921A>G (p.Thr641Ala)	NSD1 (T372A +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 1342529	NM_022455.5(NSD1):c.1579G>A (p.Gly527Arg)	NSD1 (G258R +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 1342360	NM_022455.5(NSD1):c.2363G>A (p.Arg788Gln)	NSD1 (R519Q +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 1331530	NM_022455.5(NSD1):c.5506_5509del (p.Lys1836fs)	LOC126807619, NSD1 (K1567fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1327097	NM_022455.5(NSD1):c.6632A>G (p.Asn2211Ser)	NSD1 (N1942S +6 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 1327095	NM_022455.5(NSD1):c.3418G>A (p.Val1140Ile)	NSD1 (V1140I +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 1324822	NM_022455.5(NSD1):c.7227dup (p.Pro2410fs)	NSD1 (P2141fs +1 more)	Duplication (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 1323377	NM_022455.5(NSD1):c.6258+1G>T	NSD1	Single nucleotide variant (splice donor variant +1 more)	Sotos syndrome	GPathogenic
Select item 1319645	NM_022455.5(NSD1):c.2174C>T (p.Thr725Met)	NSD1 (T456M +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1319644	NM_022455.5(NSD1):c.2225C>G (p.Pro742Arg)	NSD1 (P473R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319643	NM_022455.5(NSD1):c.2816C>T (p.Pro939Leu)	NSD1 (P670L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319641	NM_022455.5(NSD1):c.4890C>G (p.Asn1630Lys)	NSD1 (N1361K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319640	NM_022455.5(NSD1):c.626G>A (p.Ser209Asn)	NSD1 (S209N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1319639	NM_022455.5(NSD1):c.6767C>G (p.Ala2256Gly)	NSD1 (A1987G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319638	NM_022455.5(NSD1):c.7072G>C (p.Asp2358His)	NSD1 (D2089H +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319637	NM_022455.5(NSD1):c.7511T>C (p.Val2504Ala)	NSD1 (V2235A +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254638	NM_022455.5(NSD1):c.5304-48G>T	LOC126807619, NSD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213787	NM_022455.5(NSD1):c.5549C>T (p.Ala1850Val)	NSD1 (A1581V +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 1184338	NM_022455.5(NSD1):c.2963C>T (p.Ser988Phe)	NSD1 (S719F +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 1184305	NM_022455.5(NSD1):c.2077A>G (p.Asn693Asp)	NSD1 (N424D +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 1070888	NM_022455.5(NSD1):c.5445C>G (p.Tyr1815Ter)	LOC126807619, NSD1 (Y1546* +5 more)	Single nucleotide variant (nonsense)	Sotos syndrome	GPathogenic
Select item 1066832	NM_022455.5(NSD1):c.5398G>C (p.Gly1800Arg)	LOC126807619, NSD1 (G1531R +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely pathogenic
Select item 998028	NM_022455.5(NSD1):c.5509+1G>A	LOC126807619, NSD1	Single nucleotide variant (splice donor variant)	Sotos syndrome	GPathogenic
Select item 996882	NM_022455.5(NSD1):c.1028C>G (p.Ser343Cys)	NSD1 (S343C +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 988719	NM_022455.4:c.5623-?_c.8091+?del	NSD1	Deletion	Sotos syndrome	GLikely pathogenic
Select item 987447	NM_022455.5(NSD1):c.3496del (p.Arg1166fs)	NSD1 (R1166fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 986948	NM_022455.5(NSD1):c.4303-1G>C	NSD1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 978026	NM_022455.5(NSD1):c.5474dup (p.Met1826fs)	LOC126807619, NSD1 (M1557fs +1 more)	Duplication (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 975313	NM_022455.5(NSD1):c.3271dup (p.Leu1091fs)	NSD1 (L1091fs +1 more)	Duplication (frameshift variant)	Sotos syndrome	GPathogenic
Select item 975312	NM_022455.5(NSD1):c.6651G>T (p.Glu2217Asp)	NSD1 (E1948D +6 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GPathogenic
Select item 975310	NM_022455.5(NSD1):c.2029T>C (p.Ser677Pro)	NSD1 (S408P +4 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975309	NM_022455.5(NSD1):c.4921A>G (p.Ile1641Val)	NSD1 (I1372V +5 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 948872	NM_022455.5(NSD1):c.5462G>A (p.Ser1821Asn)	LOC126807619, NSD1 (S1552N +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 931215	NM_022455.5(NSD1):c.7022C>T (p.Ser2341Phe)	NSD1 (S2341F +6 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 931084	NM_022455.5(NSD1):c.2834C>A (p.Ser945Tyr)	NSD1 (S676Y +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 930994	NM_022455.5(NSD1):c.3172C>T (p.Gln1058Ter)	NSD1 (Q789* +4 more)	Single nucleotide variant (nonsense)	Sotos syndrome	GPathogenic
Select item 930846	NM_022455.5(NSD1):c.1105T>C (p.Phe369Leu)	NSD1 (F100L +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 930466	NM_022455.5(NSD1):c.709A>G (p.Lys237Glu)	NSD1 (K237E)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GUncertain significance
Select item 930415	NM_022455.5(NSD1):c.4055dup (p.Leu1352fs)	NSD1 (L1083fs +1 more)	Duplication (frameshift variant)	Sotos syndrome	GPathogenic
Select item 871930	NM_022455.5(NSD1):c.5768_5769del (p.Thr1923fs)	NSD1 (T1923fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 871928	NM_022455.5(NSD1):c.985G>A (p.Ala329Thr)	NSD1 (A329T +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 856456	NM_022455.5(NSD1):c.5509+2T>G	LOC126807619, NSD1	Single nucleotide variant (splice donor variant)	Sotos syndrome	GPathogenic
Select item 817623	NM_022455.5(NSD1):c.5342del (p.Pro1781fs)	LOC126807619, NSD1 (P1512fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 813661	NM_022455.5(NSD1):c.7669G>C (p.Gly2557Arg)	NSD1 (G2288R +6 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 802179	NM_172349.5(NSD1):c.-151+112_-151+113del	LOC121740633, NSD1	Deletion (intron variant)	Sotos syndrome	GUncertain significance
Select item 800738	Single allele	NSD1	Insertion	not provided	GPathogenic

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