ClinVar for Gene (Select 54904) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3301141	NM_023034.2(NSD3):c.1381G>A (p.Glu461Lys)	NSD3 (E461K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301140	NM_023034.2(NSD3):c.700G>C (p.Val234Leu)	LOC107133509, NSD3 (V234L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301139	NM_023034.2(NSD3):c.315C>A (p.Asn105Lys)	NSD3 (N105K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301138	NM_023034.2(NSD3):c.976C>T (p.Arg326Trp)	NSD3 (R326W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3238622	NM_023034.2(NSD3):c.3237C>G (p.Asn1079Lys)	NSD3 (N1079K)	Single nucleotide variant (missense variant)	Nut midline carcinoma	GUncertain significance
Select item 3202341	NM_023034.2(NSD3):c.779C>T (p.Thr260Met)	LOC107133509, NSD3 (T260M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202340	NM_023034.2(NSD3):c.779C>A (p.Thr260Lys)	LOC107133509, NSD3 (T260K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202339	NM_023034.2(NSD3):c.767C>G (p.Ser256Cys)	LOC107133509, NSD3 (S256C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202338	NM_023034.2(NSD3):c.676A>G (p.Arg226Gly)	LOC107133509, NSD3 (R226G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202337	NM_023034.2(NSD3):c.506A>C (p.Glu169Ala)	NSD3 (E169A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202336	NM_023034.2(NSD3):c.440A>C (p.Lys147Thr)	NSD3 (K147T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202335	NM_023034.2(NSD3):c.4205G>A (p.Arg1402His)	NSD3 (R1402H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202334	NM_023034.2(NSD3):c.4102G>C (p.Asp1368His)	NSD3 (D1368H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202333	NM_023034.2(NSD3):c.4070A>G (p.Tyr1357Cys)	NSD3 (Y1357C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202332	NM_023034.2(NSD3):c.3812C>T (p.Thr1271Met)	NSD3 (T1271M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202331	NM_023034.2(NSD3):c.365A>C (p.His122Pro)	NSD3 (H122P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202330	NM_023034.2(NSD3):c.3440C>G (p.Ala1147Gly)	NSD3 (A1147G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202329	NM_023034.2(NSD3):c.3376C>A (p.Gln1126Lys)	NSD3 (Q1126K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202328	NM_023034.2(NSD3):c.3184G>C (p.Glu1062Gln)	NSD3 (E1062Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202327	NM_023034.2(NSD3):c.2980G>T (p.Asp994Tyr)	NSD3 (D994Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202326	NM_023034.2(NSD3):c.2783C>T (p.Ser928Leu)	NSD3 (S928L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202325	NM_023034.2(NSD3):c.263C>T (p.Ser88Leu)	NSD3 (S88L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202324	NM_023034.2(NSD3):c.2567A>G (p.Asn856Ser)	NSD3 (N856S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202323	NM_023034.2(NSD3):c.2518G>A (p.Val840Ile)	NSD3 (V840I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202322	NM_023034.2(NSD3):c.2444G>T (p.Arg815Leu)	NSD3 (R815L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202321	NM_023034.2(NSD3):c.229A>G (p.Ile77Val)	NSD3 (I77V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202320	NM_023034.2(NSD3):c.1940A>G (p.Tyr647Cys)	NSD3 (Y647C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202318	NM_023034.2(NSD3):c.1906G>A (p.Ala636Thr)	NSD3 (A636T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202317	NM_023034.2(NSD3):c.1834G>A (p.Val612Met)	NSD3 (V612M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202316	NM_023034.2(NSD3):c.178C>T (p.Pro60Ser)	NSD3 (P60S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202315	NM_023034.2(NSD3):c.173A>G (p.Gln58Arg)	NSD3 (Q58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202314	NM_023034.2(NSD3):c.1712C>T (p.Ser571Leu)	NSD3 (S571L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202313	NM_023034.2(NSD3):c.1634T>C (p.Ile545Thr)	NSD3 (I545T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202312	NM_023034.2(NSD3):c.1609G>T (p.Val537Phe)	NSD3 (V537F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202310	NM_023034.2(NSD3):c.1607G>T (p.Ser536Ile)	NSD3 (S536I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202309	NM_023034.2(NSD3):c.1403T>C (p.Ile468Thr)	NSD3 (I468T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202308	NM_023034.2(NSD3):c.1373C>T (p.Ala458Val)	NSD3 (A458V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3202307	NM_023034.2(NSD3):c.1370G>A (p.Ser457Asn)	NSD3 (S457N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202306	NM_023034.2(NSD3):c.1328C>T (p.Ser443Leu)	NSD3 (S443L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202305	NM_023034.2(NSD3):c.1324C>T (p.Leu442Phe)	NSD3 (L442F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202304	NM_023034.2(NSD3):c.1148G>A (p.Arg383Gln)	NSD3 (R383Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202303	NM_023034.2(NSD3):c.1081C>T (p.Pro361Ser)	NSD3 (P361S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063032	GRCh37/hg19 8p11.23-11.1(chr8:37972810-43837099)x3	ADAM18, ADAM2 +44 more	Copy number gain	not specified	GUncertain significance
Select item 3063030	GRCh37/hg19 8p11.23-11.1(chr8:37988714-43780050)x3	ADAM18, ADAM2 +44 more	Copy number gain	not specified	GUncertain significance
Select item 3063029	GRCh37/hg19 8p11.23(chr8:37940338-38244738)x3	ASH2L, BAG4 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3058261	NM_023034.2(NSD3):c.3523G>A (p.Val1175Ile)	NSD3 (V1175I)	Single nucleotide variant (missense variant)	NSD3-related disorder	GLikely benign
Select item 3056359	NM_023034.2(NSD3):c.1959C>T (p.Ser653=)	NSD3	Single nucleotide variant (synonymous variant)	NSD3-related disorder	GLikely benign
Select item 3052725	NM_023034.2(NSD3):c.3798G>C (p.Leu1266=)	NSD3	Single nucleotide variant (synonymous variant)	NSD3-related disorder	GLikely benign
Select item 3044380	NM_023034.2(NSD3):c.1314G>A (p.Val438=)	NSD3	Single nucleotide variant (synonymous variant)	NSD3-related disorder	GLikely benign
Select item 3043083	NM_023034.2(NSD3):c.237G>T (p.Val79=)	NSD3	Single nucleotide variant (synonymous variant)	NSD3-related disorder	GLikely benign
Select item 3042747	NM_023034.2(NSD3):c.2262G>A (p.Ser754=)	NSD3	Single nucleotide variant (synonymous variant)	NSD3-related disorder	GLikely benign
Select item 3039064	NM_023034.2(NSD3):c.1392G>A (p.Pro464=)	NSD3	Single nucleotide variant (synonymous variant)	NSD3-related disorder	GLikely benign
Select item 3035790	NM_023034.2(NSD3):c.1386G>A (p.Glu462=)	NSD3	Single nucleotide variant (synonymous variant)	NSD3-related disorder	GLikely benign
Select item 3034422	NM_023034.2(NSD3):c.771T>C (p.Val257=)	LOC107133509, NSD3	Single nucleotide variant (synonymous variant)	NSD3-related disorder	GLikely benign
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2621870	NM_023034.2(NSD3):c.127G>C (p.Asp43His)	NSD3 (D43H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615411	NM_023034.2(NSD3):c.167G>C (p.Gly56Ala)	NSD3 (G56A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612143	NM_023034.2(NSD3):c.3139C>T (p.Arg1047Cys)	NSD3 (R1047C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611678	NM_023034.2(NSD3):c.1342C>G (p.Arg448Gly)	NSD3 (R448G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611381	NM_023034.2(NSD3):c.3643A>C (p.Lys1215Gln)	NSD3 (K1215Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594597	NM_023034.2(NSD3):c.2339G>A (p.Arg780His)	NSD3 (R780H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593748	NM_023034.2(NSD3):c.1832C>T (p.Thr611Ile)	NSD3 (T611I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580355	GRCh37/hg19 8p11.23-q11.21(chr8:36763176-50929707)x3	NKX6-3, PPDPFL +64 more	Copy number gain	See cases	GPathogenic
Select item 2579179	GRCh38/hg38 8p11.23-11.22(chr8:37814644-38528889)x1	ADGRA2, ADRB3 +53 more	Copy number loss	Hypogonadotropic hypogonadism 2 with or without anosmia	GPathogenic
Select item 2547708	NM_023034.2(NSD3):c.4202G>A (p.Gly1401Asp)	NSD3 (G1401D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540074	NM_023034.2(NSD3):c.1902T>G (p.Ser634Arg)	NSD3 (S634R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531507	NM_023034.2(NSD3):c.3268G>A (p.Ala1090Thr)	NSD3 (A1090T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517965	NM_023034.2(NSD3):c.2444G>A (p.Arg815His)	NSD3 (R815H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491720	NM_023034.2(NSD3):c.3025T>C (p.Tyr1009His)	NSD3 (Y1009H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491367	NM_023034.2(NSD3):c.3316A>C (p.Asn1106His)	NSD3 (N1106H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489344	NM_023034.2(NSD3):c.1147C>G (p.Arg383Gly)	NSD3 (R383G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478712	NM_023034.2(NSD3):c.3242T>C (p.Val1081Ala)	NSD3 (V1081A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470973	NM_023034.2(NSD3):c.3146A>G (p.Gln1049Arg)	NSD3 (Q1049R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426105	NC_000008.10:g.(?_38117538)_(38961219_?)dup	ADAM9, DDHD2 +9 more	Duplication	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2425692	NC_000008.10:g.(?_37595441)_(38961219_?)dup	ADAM9, ADGRA2 +21 more	Duplication	Spastic paraplegia +3 more	GUncertain significance
Select item 1807790	GRCh37/hg19 8p21.2-11.22(chr8:26808969-38346383)x1	ADGRA2, ADRB3 +59 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527425	GRCh37/hg19 8p11.23-11.22(chr8:37566388-38802788)	ADGRA2, ADRB3 +18 more	Copy number loss	not specified	GLikely pathogenic
Select item 1455925	NC_000008.10:g.(?_37595441)_(38961219_?)del	ADAM9, ADGRA2 +21 more	Deletion	not provided	GPathogenic
Select item 1331507	NM_023034.2(NSD3):c.388C>G (p.Pro130Ala)	NSD3 (P130A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 815120	GRCh37/hg19 8p11.23-11.22(chr8:38045946-38348258)x3	PLPP5, FGFR1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 784641	NM_023034.2(NSD3):c.2261C>T (p.Ser754Leu)	NSD3 (S754L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783839	NM_023034.2(NSD3):c.3636C>T (p.Ala1212=)	NSD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781138	NM_023034.2(NSD3):c.557C>T (p.Thr186Met)	NSD3 (T186M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776321	NM_023034.2(NSD3):c.3760+3A>G	NSD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 756999	NM_023034.2(NSD3):c.819T>C (p.Leu273=)	LOC107133509, NSD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 752924	NM_023034.2(NSD3):c.760C>T (p.Leu254=)	LOC107133509, NSD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 743861	NM_023034.2(NSD3):c.1667C>T (p.Thr556Met)	NSD3 (T556M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 733352	NM_023034.2(NSD3):c.2563A>G (p.Ser855Gly)	NSD3 (S855G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 716914	NM_023034.2(NSD3):c.1148G>C (p.Arg383Pro)	NSD3 (R383P)	Single nucleotide variant (missense variant)	not provided	GBenign

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