"GeneDx"[submitter] AND "NSD1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 58122	GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3	FAM153A, FAM153B +176 more	Copy number gain	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 59301	GRCh38/hg38 5q35.2-35.3(chr5:176115257-177646633)x1	LOC129995374, LOC129995375 +136 more	Copy number loss	See cases	GPathogenic
Select item 59303	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177646633)x1	ARL10, B4GALT7 +134 more	Copy number loss	See cases	GPathogenic
Select item 59302	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177986213)x1	ARL10, B4GALT7 +140 more	Copy number loss	See cases	GPathogenic
Select item 1239366	NM_022455.5(NSD1):c.-18+160T>C	NSD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218253	NM_022455.5(NSD1):c.-17-340C>T	NSD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190412	NM_022455.5(NSD1):c.-17-106A>G	NSD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1181820	NM_022455.5(NSD1):c.91C>G (p.Pro31Ala)	NSD1 (P31A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1305104	NM_022455.5(NSD1):c.105T>G (p.Gly35=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 859893	NM_022455.5(NSD1):c.145C>T (p.Gln49Ter)	NSD1 (Q49*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GUncertain significance
Select item 2662504	NM_022455.5(NSD1):c.173A>G (p.Gln58Arg)	NSD1 (Q58R)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 391167	NM_022455.5(NSD1):c.198A>G (p.Pro66=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1188678	NM_022455.5(NSD1):c.293A>T (p.Gln98Leu)	NSD1 (Q98L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1215377	NM_022455.5(NSD1):c.334G>T (p.Val112Phe)	NSD1 (V112F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 1697178	NM_022455.5(NSD1):c.383A>G (p.Gln128Arg)	NSD1 (Q128R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2430658	NM_022455.5(NSD1):c.398A>G (p.Asn133Ser)	NSD1 (N133S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1311145	NM_022455.5(NSD1):c.438C>G (p.Ile146Met)	NSD1 (I146M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3343593	NM_022455.5(NSD1):c.484G>A (p.Ala162Thr)	NSD1 (A162T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 507054	NM_022455.5(NSD1):c.507C>T (p.Asp169=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 729465	NM_022455.5(NSD1):c.622G>A (p.Gly208Arg)	NSD1 (G208R)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
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 1507977	NM_022455.5(NSD1):c.649_650del (p.Glu216_Ser217insTer)	NSD1	Microsatellite (frameshift variant +2 more)	Sotos syndrome +1 more	GUncertain significance
Select item 1308477	NM_022455.5(NSD1):c.653G>T (p.Arg218Ile)	NSD1 (R218I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3340658	NM_022455.5(NSD1):c.659G>A (p.Gly220Asp)	NSD1 (G220D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 392271	NM_022455.5(NSD1):c.662C>T (p.Ala221Val)	NSD1 (A221V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 385753	NM_022455.5(NSD1):c.684A>G (p.Pro228=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
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 96076	NM_022455.5(NSD1):c.750AGC[1] (p.Ala252del)	NSD1 (A252del)	Microsatellite (inframe_indel +2 more)	Sotos syndrome +1 more	GConflicting classifications of pathogenicity
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 3369817	NM_022455.5(NSD1):c.796A>G (p.Thr266Ala)	NSD1 (T266A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2497752	NM_022455.5(NSD1):c.817T>C (p.Ser273Pro)	NSD1 (S273P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373758	NM_022455.5(NSD1):c.857C>T (p.Thr286Ile)	NSD1 (T146I +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2136270	NM_022455.5(NSD1):c.872A>G (p.Asn291Ser)	NSD1 (N291S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1703304	NM_022455.5(NSD1):c.887C>A (p.Pro296His)	NSD1 (P27H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577674	NM_022455.5(NSD1):c.927+3A>T	NSD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 261599	NM_022455.5(NSD1):c.927+48A>G	NSD1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1231877	NM_022455.5(NSD1):c.1064-194T>C	NSD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667729	NM_022455.5(NSD1):c.1064-137T>C	NSD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239593	NM_022455.5(NSD1):c.1064-32C>G	NSD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 389959	NM_022455.5(NSD1):c.1064-10C>T	NSD1	Single nucleotide variant (intron variant)	Sotos syndrome +1 more	GLikely benign
Select item 1187636	NM_022455.5(NSD1):c.1095C>T (p.Tyr365=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome +1 more	GBenign/Likely benign
Select item 451652	NM_022455.5(NSD1):c.1096G>A (p.Val366Met)	NSD1 (V366M +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1035119	NM_022455.5(NSD1):c.1129T>C (p.Trp377Arg)	NSD1 (W377R +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome +1 more	GUncertain significance
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 1304734	NM_022455.5(NSD1):c.1204G>C (p.Gly402Arg)	NSD1 (G133R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1214278	NM_022455.5(NSD1):c.1216_1219del (p.Glu406fs)	NSD1 (E137fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 279856	NM_022455.5(NSD1):c.1212_1213del (p.Lys405fs)	NSD1 (K136fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 667730	NM_022455.5(NSD1):c.1237-246G>A	NSD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227518	NM_022455.5(NSD1):c.1237-92dup	NSD1	Duplication (intron variant)	not provided	GBenign
Select item 1208332	NM_022455.5(NSD1):c.1237-108C>A	NSD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202084	NM_022455.5(NSD1):c.1237-92del	NSD1	Deletion (intron variant)	not provided	GLikely benign
Select item 802180	NM_022455.5(NSD1):c.1237-90del	NSD1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1186136	NM_022455.5(NSD1):c.1237-87dup	NSD1	Duplication (intron variant)	not provided	GLikely benign
Select item 280938	NM_022455.5(NSD1):c.1288C>T (p.Gln430Ter)	NSD1 (Q430* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 4135	NM_022455.5(NSD1):c.1310C>G (p.Ser437Ter)	NSD1 (S437* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 1202491	NM_022455.5(NSD1):c.1318C>T (p.Arg440Ter)	NSD1 (R171* +4 more)	Single nucleotide variant (nonsense)	Sotos syndrome +1 more	GPathogenic
Select item 1311124	NM_022455.5(NSD1):c.1325G>A (p.Cys442Tyr)	NSD1 (C173Y +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome +1 more	GUncertain significance
Select item 817196	NM_022455.5(NSD1):c.1327_1328del (p.Ile443fs)	NSD1 (I174fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 2661949	NM_022455.5(NSD1):c.1372G>A (p.Glu458Lys)	NSD1 (E167K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695756	NM_022455.5(NSD1):c.1372G>C (p.Glu458Gln)	NSD1 (E189Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 379349	NM_022455.5(NSD1):c.1397C>G (p.Ser466Ter)	NSD1 (S466* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3340989	NM_022455.5(NSD1):c.1399G>C (p.Glu467Gln)	NSD1 (E176Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2502542	NM_022455.5(NSD1):c.1554T>G (p.Phe518Leu)	NSD1 (F227L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1706997	NM_022455.5(NSD1):c.1562A>G (p.His521Arg)	NSD1 (H230R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 512369	NM_022455.5(NSD1):c.1596C>T (p.Asn532=)	NSD1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2663197	NM_022455.5(NSD1):c.1621G>A (p.Asp541Asn)	NSD1 (D250N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304978	NM_022455.5(NSD1):c.1646A>C (p.Asn549Thr)	NSD1 (N280T +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1712797	NM_022455.5(NSD1):c.1676C>T (p.Thr559Ile)	NSD1 (T268I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 423091	NM_022455.5(NSD1):c.1739_1740del (p.Lys580fs)	NSD1 (K311fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 1210693	NM_022455.5(NSD1):c.1763A>G (p.Asp588Gly)	NSD1 (D319G +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome +1 more	GLikely benign
Select item 1702766	NM_022455.5(NSD1):c.1769T>C (p.Leu590Ser)	NSD1 (L321S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576745	NM_022455.5(NSD1):c.1775G>A (p.Gly592Asp)	NSD1 (G301D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1266042	NM_022455.5(NSD1):c.1782T>C (p.Pro594=)	NSD1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3252152	NM_022455.5(NSD1):c.1787G>A (p.Gly596Asp)	NSD1 (G305D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 702743	NM_022455.5(NSD1):c.1830A>G (p.Gln610=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome +1 more	GLikely benign
Select item 3372721	NM_022455.5(NSD1):c.1831C>G (p.Arg611Gly)	NSD1 (R320G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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

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